TAF1 (TATA-box binding protein associated factor 1)

Gene

• Entrez ID: 6872
• Gene name: TATA-box binding protein associated factor 1
• Gene symbol: TAF1
• Synonyms: BA2R, CCG1, CCGS, DYT3, DYT3/TAF1, KAT4, MRXS33, N-TAF1, NSCL2, OF, P250, TAF(II)250, TAF2A, TAFII-250, TAFII250, XDP
• Chromosome: X
• Chromosome location: Xq13.1
• Summary: Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase prope

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144106353	T>C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs148448660	G>A	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs397509359	C>A,T	Pathogenic	Non coding transcript variant, genic downstream transcript variant
rs767354861	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs864321627	T>C	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs864321628	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs864321629	C>T	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
rs864321630	C>T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs864321631	G>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1057518019	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs1064793874	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs1131691982	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs1555980523	C>T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1555980614	T>C	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant
rs1569301036	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs1602481623	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs1602489684	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs1602506017	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs1602520317	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, 3 prime UTR variant, missense variant
rs1602538353	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs1602572645	A>G,T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs1602624914	A>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs1602624950	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018059	hsa-miR-335-5p	Microarray	18185580
MIRT025847	hsa-miR-7-5p	Microarray	17612493
MIRT030916	hsa-miR-21-5p	Microarray	18591254
MIRT673006	hsa-miR-4486	HITS-CLIP	23824327
MIRT673004	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT676841	hsa-miR-3652	HITS-CLIP	23824327
MIRT676840	hsa-miR-4430	HITS-CLIP	23824327
MIRT676839	hsa-miR-4505	HITS-CLIP	23824327
MIRT676838	hsa-miR-5787	HITS-CLIP	23824327
MIRT673003	hsa-miR-3178	HITS-CLIP	23824327
MIRT676837	hsa-miR-647	HITS-CLIP	23824327
MIRT676836	hsa-miR-6842-3p	HITS-CLIP	23824327
MIRT673001	hsa-miR-4508	HITS-CLIP	23824327
MIRT673007	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT673006	hsa-miR-4486	HITS-CLIP	23824327
MIRT673005	hsa-miR-4284	HITS-CLIP	23824327
MIRT673004	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT673003	hsa-miR-3178	HITS-CLIP	23824327
MIRT673002	hsa-miR-7977	HITS-CLIP	23824327
MIRT673001	hsa-miR-4508	HITS-CLIP	23824327
MIRT673006	hsa-miR-4486	HITS-CLIP	23824327
MIRT673004	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT676841	hsa-miR-3652	HITS-CLIP	23824327
MIRT676840	hsa-miR-4430	HITS-CLIP	23824327
MIRT676839	hsa-miR-4505	HITS-CLIP	23824327
MIRT676838	hsa-miR-5787	HITS-CLIP	23824327
MIRT673003	hsa-miR-3178	HITS-CLIP	23824327
MIRT676837	hsa-miR-647	HITS-CLIP	23824327
MIRT676836	hsa-miR-6842-3p	HITS-CLIP	23824327
MIRT673001	hsa-miR-4508	HITS-CLIP	23824327
MIRT673007	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT673006	hsa-miR-4486	HITS-CLIP	23824327
MIRT673005	hsa-miR-4284	HITS-CLIP	23824327
MIRT673004	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT673003	hsa-miR-3178	HITS-CLIP	23824327
MIRT673002	hsa-miR-7977	HITS-CLIP	23824327
MIRT673001	hsa-miR-4508	HITS-CLIP	23824327
MIRT1409002	hsa-miR-101	CLIP-seq
MIRT1409003	hsa-miR-1200	CLIP-seq
MIRT1409004	hsa-miR-122	CLIP-seq
MIRT1409005	hsa-miR-1224-3p	CLIP-seq
MIRT1409006	hsa-miR-1260	CLIP-seq
MIRT1409007	hsa-miR-1260b	CLIP-seq
MIRT1409008	hsa-miR-1272	CLIP-seq
MIRT1409009	hsa-miR-128	CLIP-seq
MIRT1409010	hsa-miR-1280	CLIP-seq
MIRT1409011	hsa-miR-1298	CLIP-seq
MIRT1409012	hsa-miR-1322	CLIP-seq
MIRT1409013	hsa-miR-1324	CLIP-seq
MIRT1409014	hsa-miR-1343	CLIP-seq
MIRT1409015	hsa-miR-151-3p	CLIP-seq
MIRT1409016	hsa-miR-21	CLIP-seq
MIRT1409017	hsa-miR-25	CLIP-seq
MIRT1409018	hsa-miR-27a	CLIP-seq
MIRT1409019	hsa-miR-27b	CLIP-seq
MIRT1409020	hsa-miR-302f	CLIP-seq
MIRT1409021	hsa-miR-3074-5p	CLIP-seq
MIRT1409022	hsa-miR-31	CLIP-seq
MIRT1409023	hsa-miR-3121-5p	CLIP-seq
MIRT1409024	hsa-miR-3124-3p	CLIP-seq
MIRT1409025	hsa-miR-3126-3p	CLIP-seq
MIRT1409026	hsa-miR-3128	CLIP-seq
MIRT1409027	hsa-miR-3135b	CLIP-seq
MIRT1409028	hsa-miR-3150a-3p	CLIP-seq
MIRT1409029	hsa-miR-3157-3p	CLIP-seq
MIRT1409030	hsa-miR-3175	CLIP-seq
MIRT1409031	hsa-miR-3189-5p	CLIP-seq
MIRT1409032	hsa-miR-32	CLIP-seq
MIRT1409033	hsa-miR-320e	CLIP-seq
MIRT1409034	hsa-miR-331-3p	CLIP-seq
MIRT1409035	hsa-miR-338-3p	CLIP-seq
MIRT1409036	hsa-miR-338-5p	CLIP-seq
MIRT1409037	hsa-miR-342-3p	CLIP-seq
MIRT1409038	hsa-miR-3611	CLIP-seq
MIRT1409039	hsa-miR-362-5p	CLIP-seq
MIRT1409040	hsa-miR-363	CLIP-seq
MIRT1409041	hsa-miR-3663-5p	CLIP-seq
MIRT1409042	hsa-miR-367	CLIP-seq
MIRT1409043	hsa-miR-3679-3p	CLIP-seq
MIRT1409044	hsa-miR-3682-3p	CLIP-seq
MIRT1409045	hsa-miR-3685	CLIP-seq
MIRT1409046	hsa-miR-384	CLIP-seq
MIRT1409047	hsa-miR-3914	CLIP-seq
MIRT1409048	hsa-miR-3920	CLIP-seq
MIRT1409049	hsa-miR-3941	CLIP-seq
MIRT1409050	hsa-miR-3942-3p	CLIP-seq
MIRT1409051	hsa-miR-4256	CLIP-seq
MIRT1409052	hsa-miR-4263	CLIP-seq
MIRT1409053	hsa-miR-4266	CLIP-seq
MIRT1409054	hsa-miR-4289	CLIP-seq
MIRT1409055	hsa-miR-4292	CLIP-seq
MIRT1409056	hsa-miR-4305	CLIP-seq
MIRT1409057	hsa-miR-4317	CLIP-seq
MIRT1409058	hsa-miR-4318	CLIP-seq
MIRT1409059	hsa-miR-4325	CLIP-seq
MIRT1409060	hsa-miR-4463	CLIP-seq
MIRT1409061	hsa-miR-4476	CLIP-seq
MIRT1409062	hsa-miR-4477a	CLIP-seq
MIRT1409063	hsa-miR-4494	CLIP-seq
MIRT1409064	hsa-miR-4499	CLIP-seq
MIRT1409065	hsa-miR-4659a-3p	CLIP-seq
MIRT1409066	hsa-miR-4659b-3p	CLIP-seq
MIRT1409067	hsa-miR-466	CLIP-seq
MIRT1409068	hsa-miR-4661-5p	CLIP-seq
MIRT1409069	hsa-miR-4666-5p	CLIP-seq
MIRT1409070	hsa-miR-4667-5p	CLIP-seq
MIRT1409071	hsa-miR-4672	CLIP-seq
MIRT1409072	hsa-miR-4699-5p	CLIP-seq
MIRT1409073	hsa-miR-4700-5p	CLIP-seq
MIRT1409074	hsa-miR-4720-5p	CLIP-seq
MIRT1409075	hsa-miR-4724-3p	CLIP-seq
MIRT1409076	hsa-miR-4727-5p	CLIP-seq
MIRT1409077	hsa-miR-4728-5p	CLIP-seq
MIRT1409078	hsa-miR-4733-5p	CLIP-seq
MIRT1409079	hsa-miR-4758-3p	CLIP-seq
MIRT1409080	hsa-miR-4769-3p	CLIP-seq
MIRT1409081	hsa-miR-4777-3p	CLIP-seq
MIRT1409082	hsa-miR-4777-5p	CLIP-seq
MIRT1409083	hsa-miR-4799-3p	CLIP-seq
MIRT1409084	hsa-miR-4799-5p	CLIP-seq
MIRT1409085	hsa-miR-483-3p	CLIP-seq
MIRT1409086	hsa-miR-499a-5p	CLIP-seq
MIRT1409087	hsa-miR-500b	CLIP-seq
MIRT1409088	hsa-miR-501-5p	CLIP-seq
MIRT1409089	hsa-miR-518d-5p	CLIP-seq
MIRT1409090	hsa-miR-519b-5p	CLIP-seq
MIRT1409091	hsa-miR-519c-5p	CLIP-seq
MIRT1409092	hsa-miR-520c-5p	CLIP-seq
MIRT1409093	hsa-miR-526a	CLIP-seq
MIRT1409094	hsa-miR-548c-3p	CLIP-seq
MIRT1409095	hsa-miR-576-5p	CLIP-seq
MIRT1409096	hsa-miR-587	CLIP-seq
MIRT1409097	hsa-miR-590-5p	CLIP-seq
MIRT1409098	hsa-miR-603	CLIP-seq
MIRT1409099	hsa-miR-637	CLIP-seq
MIRT1409100	hsa-miR-663b	CLIP-seq
MIRT1409101	hsa-miR-664	CLIP-seq
MIRT1409102	hsa-miR-7	CLIP-seq
MIRT1409103	hsa-miR-874	CLIP-seq
MIRT1409104	hsa-miR-92a	CLIP-seq
MIRT1409105	hsa-miR-92b	CLIP-seq
MIRT1409106	hsa-miR-939	CLIP-seq
MIRT1409003	hsa-miR-1200	CLIP-seq
MIRT1409107	hsa-miR-125a-3p	CLIP-seq
MIRT1409108	hsa-miR-1913	CLIP-seq
MIRT1409021	hsa-miR-3074-5p	CLIP-seq
MIRT1409024	hsa-miR-3124-3p	CLIP-seq
MIRT1409033	hsa-miR-320e	CLIP-seq
MIRT1409109	hsa-miR-324-3p	CLIP-seq
MIRT1409110	hsa-miR-361-3p	CLIP-seq
MIRT1409041	hsa-miR-3663-5p	CLIP-seq
MIRT1409111	hsa-miR-3670	CLIP-seq
MIRT1409112	hsa-miR-3934	CLIP-seq
MIRT1409051	hsa-miR-4256	CLIP-seq
MIRT1409061	hsa-miR-4476	CLIP-seq
MIRT1409113	hsa-miR-4707-3p	CLIP-seq
MIRT1409114	hsa-miR-4710	CLIP-seq
MIRT1409081	hsa-miR-4777-3p	CLIP-seq
MIRT1409115	hsa-miR-4792	CLIP-seq
MIRT1409094	hsa-miR-548c-3p	CLIP-seq
MIRT1409102	hsa-miR-7	CLIP-seq
MIRT1409116	hsa-miR-764	CLIP-seq
MIRT1409117	hsa-miR-9	CLIP-seq
MIRT2122700	hsa-miR-1183	CLIP-seq
MIRT2122701	hsa-miR-3143	CLIP-seq
MIRT2122702	hsa-miR-383	CLIP-seq
MIRT1409067	hsa-miR-466	CLIP-seq
MIRT2122703	hsa-miR-4722-3p	CLIP-seq
MIRT1409094	hsa-miR-548c-3p	CLIP-seq
MIRT1409002	hsa-miR-101	CLIP-seq
MIRT2122700	hsa-miR-1183	CLIP-seq
MIRT2345070	hsa-miR-1228	CLIP-seq
MIRT1409008	hsa-miR-1272	CLIP-seq
MIRT1409009	hsa-miR-128	CLIP-seq
MIRT1409011	hsa-miR-1298	CLIP-seq
MIRT1409012	hsa-miR-1322	CLIP-seq
MIRT1409014	hsa-miR-1343	CLIP-seq
MIRT2345071	hsa-miR-153	CLIP-seq
MIRT2345072	hsa-miR-1976	CLIP-seq
MIRT2345073	hsa-miR-2110	CLIP-seq
MIRT2345074	hsa-miR-2681	CLIP-seq
MIRT1409018	hsa-miR-27a	CLIP-seq
MIRT1409019	hsa-miR-27b	CLIP-seq
MIRT1409023	hsa-miR-3121-5p	CLIP-seq
MIRT1409025	hsa-miR-3126-3p	CLIP-seq
MIRT2122701	hsa-miR-3143	CLIP-seq
MIRT1409028	hsa-miR-3150a-3p	CLIP-seq
MIRT2345075	hsa-miR-3153	CLIP-seq
MIRT1409037	hsa-miR-342-3p	CLIP-seq
MIRT1409039	hsa-miR-362-5p	CLIP-seq
MIRT1409043	hsa-miR-3679-3p	CLIP-seq
MIRT1409044	hsa-miR-3682-3p	CLIP-seq
MIRT2345076	hsa-miR-3690	CLIP-seq
MIRT2122702	hsa-miR-383	CLIP-seq
MIRT1409050	hsa-miR-3942-3p	CLIP-seq
MIRT2345077	hsa-miR-410	CLIP-seq
MIRT1409051	hsa-miR-4256	CLIP-seq
MIRT2345078	hsa-miR-4271	CLIP-seq
MIRT2345079	hsa-miR-4279	CLIP-seq
MIRT2345080	hsa-miR-4307	CLIP-seq
MIRT1409059	hsa-miR-4325	CLIP-seq
MIRT2345081	hsa-miR-4446-5p	CLIP-seq
MIRT1409062	hsa-miR-4477a	CLIP-seq
MIRT2345082	hsa-miR-448	CLIP-seq
MIRT1409063	hsa-miR-4494	CLIP-seq
MIRT2345083	hsa-miR-4517	CLIP-seq
MIRT2345084	hsa-miR-4643	CLIP-seq
MIRT1409068	hsa-miR-4661-5p	CLIP-seq
MIRT2345085	hsa-miR-4699-3p	CLIP-seq
MIRT2345086	hsa-miR-4717-3p	CLIP-seq
MIRT2122703	hsa-miR-4722-3p	CLIP-seq
MIRT1409075	hsa-miR-4724-3p	CLIP-seq
MIRT2345087	hsa-miR-4725-3p	CLIP-seq
MIRT2345088	hsa-miR-4731-3p	CLIP-seq
MIRT1409078	hsa-miR-4733-5p	CLIP-seq
MIRT2345089	hsa-miR-4735-5p	CLIP-seq
MIRT2345090	hsa-miR-4755-5p	CLIP-seq
MIRT2345091	hsa-miR-4775	CLIP-seq
MIRT2345092	hsa-miR-4789-3p	CLIP-seq
MIRT2345093	hsa-miR-4794	CLIP-seq
MIRT2345094	hsa-miR-4801	CLIP-seq
MIRT1409086	hsa-miR-499a-5p	CLIP-seq
MIRT1409087	hsa-miR-500b	CLIP-seq
MIRT1409088	hsa-miR-501-5p	CLIP-seq
MIRT2345095	hsa-miR-520f	CLIP-seq
MIRT2345096	hsa-miR-590-3p	CLIP-seq
MIRT2345097	hsa-miR-642a	CLIP-seq
MIRT1409101	hsa-miR-664	CLIP-seq
MIRT1409011	hsa-miR-1298	CLIP-seq
MIRT1409065	hsa-miR-4659a-3p	CLIP-seq
MIRT1409066	hsa-miR-4659b-3p	CLIP-seq
MIRT1409101	hsa-miR-664	CLIP-seq
MIRT2345070	hsa-miR-1228	CLIP-seq
MIRT2692613	hsa-miR-3149	CLIP-seq
MIRT2692614	hsa-miR-411	CLIP-seq
MIRT2692615	hsa-miR-4708-5p	CLIP-seq
MIRT2345089	hsa-miR-4735-5p	CLIP-seq
MIRT2345091	hsa-miR-4775	CLIP-seq
MIRT2345093	hsa-miR-4794	CLIP-seq
MIRT2345096	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	24289924
GO:0000209	Process	Protein polyubiquitination	IDA	20181722
GO:0000785	Component	Chromatin	IDA	20181722, 24289924
GO:0000979	Function	RNA polymerase II core promoter sequence-specific DNA binding	IMP	25412659
GO:0001181	Function	RNA polymerase I general transcription initiation factor activity	IDA	12498690
GO:0002039	Function	P53 binding	IPI	15053879
GO:0004402	Function	Histone acetyltransferase activity	IDA	8980232
GO:0004402	Function	Histone acetyltransferase activity	NAS	24927529
GO:0004672	Function	Protein kinase activity	IDA	24289924
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	15053879
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	8625415, 15053879
GO:0005515	Function	Protein binding	IPI	7565781, 7590250, 7667268, 7680771, 7729427, 7824954, 9603525, 9674425, 9858607, 12498690, 14672934, 17884155, 18391197, 18548200, 20181722
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	12498690
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IDA	12498690
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IPI	25412659
GO:0005669	Component	Transcription factor TFIID complex	IBA	21873635
GO:0005669	Component	Transcription factor TFIID complex	IDA	8625415, 14580349, 24927529, 25412659, 27007846, 29111974
GO:0005669	Component	Transcription factor TFIID complex	TAS	12498690
GO:0005730	Component	Nucleolus	IDA	12498690
GO:0006361	Process	Transcription initiation from RNA polymerase I promoter	IGI	12498690
GO:0006366	Process	Transcription by RNA polymerase II	IGI	9660973
GO:0006366	Process	Transcription by RNA polymerase II	TAS
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	IDA	17996705
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	IGI	25412659
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	ISS
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0006468	Process	Protein phosphorylation	IDA	18548200
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	20181722
GO:0006974	Process	Cellular response to DNA damage stimulus	IDA	24289924
GO:0007049	Process	Cell cycle	IEA
GO:0008134	Function	Transcription factor binding	IPI	8625415
GO:0010629	Process	Negative regulation of gene expression	IMP	17237821
GO:0016032	Process	Viral process	IEA
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IBA	21873635
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IDA	17996705
GO:0016251	Function	RNA polymerase II general transcription initiation factor activity	IGI	25412659
GO:0016301	Function	Kinase activity	IDA	18548200
GO:0016573	Process	Histone acetylation	IEA
GO:0017025	Function	TBP-class protein binding	IBA	21873635
GO:0017025	Function	TBP-class protein binding	IPI	9660973
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	8625415
GO:0018107	Process	Peptidyl-threonine phosphorylation	IDA	15053879, 24289924
GO:0030901	Process	Midbrain development	IGI	26637982
GO:0032092	Process	Positive regulation of protein binding	IDA	17237821
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	15053879
GO:0034644	Process	Cellular response to UV	IDA	24289924
GO:0035257	Function	Nuclear hormone receptor binding	IPI	20181722
GO:0036369	Process	Transcription factor catabolic process	IDA	20181722
GO:0043433	Process	Negative regulation of DNA-binding transcription factor activity	IDA	24289924
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0046777	Process	Protein autophosphorylation	IDA	8625415, 20181722, 24289924
GO:0046777	Process	Protein autophosphorylation	TAS	15053879
GO:0046982	Function	Protein heterodimerization activity	IPI	25412659
GO:0050821	Process	Protein stabilization	IDA	17237821
GO:0051123	Process	RNA polymerase II preinitiation complex assembly	IBA	21873635
GO:0051123	Process	RNA polymerase II preinitiation complex assembly	ISS
GO:0061628	Function	H3K27me3 modified histone binding	IPI	24927529
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	24289924
GO:0061631	Function	Ubiquitin conjugating enzyme activity	IDA	20181722
GO:0070577	Function	Lysine-acetylated histone binding	IDA	17996705
GO:0071318	Process	Cellular response to ATP	IDA	24289924
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA
GO:0140416	Function	Transcription regulator inhibitor activity	IDA	24289924
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1902806	Process	Regulation of cell cycle G1/S phase transition	TAS	12498690
GO:1903026	Process	Negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding	IDA	24289924
GO:1905502	Function	Acetyl-CoA binding	IDA	24927529
GO:1905524	Process	Negative regulation of protein autoubiquitination	IDA	17237821
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IMP	17237821
GO:2000825	Process	Positive regulation of androgen receptor activity	IDA	20181722

Other IDs

• MIM: 313650
• HGNC: 11535
• e!Ensembl: ENSG00000147133

Protein

• UniProt ID: P21675
• Protein name: Transcription initiation factor TFIID subunit 1 (EC 2.3.1.48) (EC 2.7.11.1) (Cell cycle gene 1 protein) (TBP-associated factor 250 kDa) (p250) (Transcription initiation factor TFIID 250 kDa subunit) (TAF(II)250) (TAFII-250) (TAFII250)
• Protein function: The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription (PubMed:33795473). TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TAT
• PDB: 1EQF, 3AAD, 3UV4, 3UV5, 4RGW, 4YYM, 4YYN, 5FUR, 5I1Q, 5I29, 5MG2, 6BQD, 6FIC, 6MZD, 6MZL, 6MZM, 6P38, 6P39, 6P3A, 7EDX, 7EG7, 7EG8, 7EG9, 7EGA, 7EGB, 7EGC, 7EGD, 7EGE, 7EGH, 7EGI, 7EGJ, 7ENA, 7ENC, 7JJG, 7JJH, 7JSP, 7JTC, 7K03, 7K0D, 7K0U, 7K1P, 7K27, 7K3O, 7K42, 7K6F, 7L6X, 7LB0, 7LB1, 7LB2, 7LB3, 7N42
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09247	TBP-binding	24 → 86	TATA box-binding protein binding	Domain
  PF12157	DUF3591	565 → 1028	Protein of unknown function (DUF3591)	Family
  PF15288	zf-CCHC_6	1261 → 1300	Zinc knuckle	Domain
  PF00439	Bromodomain	1389 → 1472	Bromodomain	Domain
  PF00439	Bromodomain	1511 → 1595	Bromodomain	Domain

• Sequence:

  MGPGCDLLLRTAATITAAAIMSDTDSDEDSAGGGPFSLAGFLFGNINGAGQLEGESVLDD
  ECKKHLAGLGALGLGSLITELTANEELTGTDGALVNDEGWVRSTEDAVDYSDINEVAEDE
  SRRYQQTMGSLQPLCHSDYDEDDYDADCEDIDCKLMPPPPPPPGPMKKDKDQDSITGEKV
  DFSSSSDSESEMGPQEATQAESEDGKLTLPLAGIMQHDATKLLPSVTELFPEFRPGKVLR
  FLRLFGPGKNVPSVWRSARRKRKKKHRELIQEEQIQEVECSVESEVSQKSLWNYDYAPPP
  PPEQCLSDDEITMMAPVESKFSQSTGDIDKVTDTKPRVAEWRYGPARLWYDMLGVPEDGS
  GFDYGFKLRKTEHEPVIKSRMIEEFRKLEENNGTDLLADENFLMVTQLHWEDDIIWDGED
  VKHKGTKPQRASLAGWLPSSMTRNAMAYNVQQGFAATLDDDKPWYSIFPIDNEDLVYGRW
  EDNIIWDAQAMPRLLEPPVLTLDPNDENLILEIPDEKEEATSNSPSKESKKESSLKKSRI
  LLGKTGVIKEEPQQNMSQPEVKDPWNLSNDEYYYPKQQGLRGTFGGNIIQHSIPAVELRQ
  PFFPTHMGPIKLRQFHRPPLKKYSFGALSQPGPHSVQPLLKHIKKKAKMREQERQASGGG
  EMFFMRTPQDLTGKDGDLILAEYSEENGPLMMQVGMATKIKNYYKRKPGKDPGAPDCKYG
  ETVYCHTSPFLGSLHPGQLLQAFENNLFRAPIYLHKMPETDFLIIRTRQGYYIRELVDIF
  VVGQQCPLFEVPGPNSKRANTHIRDFLQVFIYRLFWKSKDRPRRIRMEDIKKAFPSHSES
  SIRKRLKLCADFKRTGMDSNWWVLKSDFRLPTEEEIRAMVSPEQCCAYYSMIAAEQRLKD
  AGYGEKSFFAPEEENEEDFQMKIDDEVRTAPWNTTRAFIAAMKGKCLLEVTGVADPTGCG
  EGFSYVKIPNKPTQQKDDKEPQPVKKTVTGTDADLRRLSLKNAKQLLRKFGVPEEEIKKL
  SRWEVIDVVRTMSTEQARSGEGPMSKFARGSRFSVAEHQERYKEECQRIFDLQNKVLSST
  EVLSTDTDSSSAEDSDFEEMGKNIENMLQNKKTSSQLSREREEQERKELQRMLLAAGSAA
  SGNNHRDDDTASVTSLNSSATGRCLKIYRTFRDEEGKEYVRCETVRKPAVIDAYVRIRTT
  KDEEFIRKFALFDEQHREEMRKERRRIQEQLRRLKRNQEKEKLKGPPEKKPKKMKERPDL
  KLKCGACGAIGHMRTNKFCPLYYQTNAPPSNPVAMTEEQEEELEKTVIHNDNEELIKVEG
  TKIVLGKQLIESADEVRRKSLVLKFPKQQLPPKKKRRVGTTVHCDYLNRPHKSIHRRRTD
  PMVTLSSILESIINDMRDLPNTYPFHTPVNAKVVKDYYKIITRPMDLQTLRENVRKRLYP
  SREEFREHLELIVKNSATYNGPKHSLTQISQSMLDLCDEKLKEKEDKLARLEKAINPLLD
  DDDQVAFSFILDNIVTQKMMAVPDSWPFHHPVNKKFVPDYYKVIVNPMDLETIRKNISKH
  KYQSRESFLDDVNLILANSVKYNGPESQYTKTAQEIVNVCYQTLTEYDEHLTQLEKDICT
  AKEAALEEAELESLDPMTPGPYTPQPPDLYDTNTSLSMSRDASVFQDESNMSVLDIPSAT
  PEKQVTQEGEDGDGDLADEEEGTVQQPQASVLYEDLLMSEGEDDEEDAGSDEEGDNPFSA
  IQLSESGSDSDVGSGGIRPKQPRMLQENTRMDMENEESMMSYEGDGGEASHGLEDSNISY
  GSYEEPDPKSNTQDTSFSSIGGYEVSEEEEDEEEEEQRSGPSVLSQVHLSEDEEDSEDFH
  SIAGDSDLDSDE

• Sequence length: 1872

Pathways

KEGG:

Basal transcription factors

Reactome:

RNA Polymerase II Pre-transcription Events
Regulation of TP53 Activity through Phosphorylation
RNA Polymerase II Promoter Escape
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Initiation And Promoter Clearance

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Aplasia cutis congenita	Aplasia Cutis Congenita	rs587777706
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Colorectal cancer	Adenocarcinoma of large intestine	rs137854568, rs137854573, rs137854575, rs387906234, rs1801155, rs121908380, rs121908702, rs267606674, rs4939827, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553149467, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Developmental delay	Global developmental delay, Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074	26350204
Dystonia	Dystonia Musculorum Deformans, Dystonia 3, Torsion, X-Linked	rs1586456293, rs1586456350, rs1586456278, rs267607112, rs137852968, rs80358233, rs121434410, rs730880307, rs104894433, rs104894437, rs2140127822, rs104894438, rs2140074226, rs104894439, rs104894440, rs2140073990, rs104894441, rs104894444, rs80356532, rs80356533, rs80356535, rs80356536, rs80356537, rs267606670, rs104893665, rs121917747, rs121909739, rs80359818, rs387907176, rs387907177, rs387907281, rs387907282, rs398122887, rs387907312, rs587776922, rs1565132917, rs587776923, rs1277790116, rs398122924, rs398122925, rs398122926, rs398122927, rs398122928, rs587776983, rs397515577, rs587777428, rs587777771, rs397515382, rs606231443, rs606231442, rs606231441, rs549006436, rs606231439, rs606231437, rs606231435, rs606231434, rs557052809, rs606231432, rs542652468, rs786205675, rs775863165, rs767517186, rs139260335, rs796053263, rs796053254, rs767399782, rs864309572, rs869320661, rs779204655, rs879253875, rs886039379, rs1555865401, rs587777468, rs886041396, rs1057518117, rs782175860, rs1057518953, rs113371321, rs1057518942, rs1057519278, rs1057519279, rs1057519280, rs1057519281, rs1057519282, rs1057519283, rs1057519284, rs988395114, rs1060500993, rs1064795234, rs1064797245, rs1064797344, rs1131691345, rs1131691307, rs749414480, rs1555358507, rs1555727493, rs1555362835, rs1555859571, rs763183959, rs1555859157, rs1555731819, rs879255368, rs1555731976, rs1554599616, rs1554599983, rs1554599712, rs1555360050, rs760768475, rs1566687487, rs1568379151, rs1563644456, rs1563646198, rs1563644810, rs1568853466, rs1573882268, rs1252185897, rs1586456404, rs1590612392, rs1590658782, rs1599706613, rs1599715341, rs1599719130, rs1590168246, rs1590169710, rs1599689373, rs1599712456, rs1599712523, rs1599719534, rs1586457084, rs1478393931, rs748888652, rs1599679995, rs1599680351, rs1459799356, rs1599687853, rs1599706511, rs1599725621, rs1586459408, rs1596050386, rs1599676503, rs1566687244, rs1586457060, rs1599665134, rs1599668553, rs1670619549, rs1802674870, rs1802756440, rs2075090666, rs1969024891, rs1802672249, rs2039866854	12928496, 23184149, 26879577
Spastic diplegia	Little`s Disease	rs672601336
Mental retardation	Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	26350204
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840

Unknown
Disease name	Disease term	dbSNP ID	References
Blepharospasm	Blepharospasm
Cerebellar atrophy	Cerebellar atrophy
Congenital epicanthus	Congenital Epicanthus
Dystonia-parkinsonism, x-linked	X-linked dystonia-parkinsonism	rs397509359, rs1060499594
Expressive language delay	Severe expressive language delay
High palate	Byzanthine arch palate
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome, x-linked	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
Laryngospasm	Laryngospasm
Lipoma	Lipoma
Macrotia	Macrotia
Metastatic melanoma	Metastatic melanoma
Micrognathism	Micrognathism
Oropharyngeal dysphagia	Oropharyngeal Dysphagia
Osteopenia	Osteopenia
Otitis media	Chronic otitis media	rs601338, rs1047781, rs1800028
Proptosis	Exophthalmos
Strabismus	Strabismus
Syndromic mental retardation, x-linked	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33		26637982, 26350204
Synophrys	Synophrys