WDR5 (WD repeat domain 5)

Gene

• Entrez ID: 11091
• Gene name: WD repeat domain 5
• Gene symbol: WDR5
• Synonyms (NCBI Gene): BIG-3, BIG3, CFAP89, SWD3
• Chromosome: 9
• Chromosome location: 9q34.2
• Summary: This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047941	hsa-miR-30c-5p	CLASH	23622248
MIRT042008	hsa-miR-484	CLASH	23622248
MIRT039870	hsa-miR-615-3p	CLASH	23622248
MIRT643671	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT643669	hsa-miR-5699-5p	HITS-CLIP	23824327
MIRT643670	hsa-miR-4758-3p	HITS-CLIP	23824327
MIRT643668	hsa-miR-3189-5p	HITS-CLIP	23824327
MIRT643671	hsa-miR-6865-3p	HITS-CLIP	23824327
MIRT643669	hsa-miR-5699-5p	HITS-CLIP	23824327
MIRT643670	hsa-miR-4758-3p	HITS-CLIP	23824327
MIRT643668	hsa-miR-3189-5p	HITS-CLIP	23824327
MIRT1490901	hsa-miR-1184	CLIP-seq
MIRT1490902	hsa-miR-1205	CLIP-seq
MIRT1490903	hsa-miR-1286	CLIP-seq
MIRT1490904	hsa-miR-1289	CLIP-seq
MIRT1490905	hsa-miR-1291	CLIP-seq
MIRT1490906	hsa-miR-193a-3p	CLIP-seq
MIRT1490907	hsa-miR-193b	CLIP-seq
MIRT1490908	hsa-miR-1972	CLIP-seq
MIRT1490909	hsa-miR-2467-5p	CLIP-seq
MIRT1490910	hsa-miR-299-3p	CLIP-seq
MIRT1490911	hsa-miR-3064-5p	CLIP-seq
MIRT1490912	hsa-miR-3141	CLIP-seq
MIRT1490913	hsa-miR-3156-3p	CLIP-seq
MIRT1490914	hsa-miR-3157-5p	CLIP-seq
MIRT1490915	hsa-miR-3173-5p	CLIP-seq
MIRT1490916	hsa-miR-3184	CLIP-seq
MIRT1490917	hsa-miR-328	CLIP-seq
MIRT1490918	hsa-miR-3607-5p	CLIP-seq
MIRT1490919	hsa-miR-3664-5p	CLIP-seq
MIRT1490920	hsa-miR-3670	CLIP-seq
MIRT1490921	hsa-miR-3714	CLIP-seq
MIRT1490922	hsa-miR-3919	CLIP-seq
MIRT1490923	hsa-miR-423-5p	CLIP-seq
MIRT1490924	hsa-miR-4301	CLIP-seq
MIRT1490925	hsa-miR-4304	CLIP-seq
MIRT1490926	hsa-miR-4487	CLIP-seq
MIRT1490927	hsa-miR-4522	CLIP-seq
MIRT1490928	hsa-miR-4640-3p	CLIP-seq
MIRT1490929	hsa-miR-4642	CLIP-seq
MIRT1490930	hsa-miR-4650-5p	CLIP-seq
MIRT1490931	hsa-miR-4663	CLIP-seq
MIRT1490932	hsa-miR-4687-5p	CLIP-seq
MIRT1490933	hsa-miR-4688	CLIP-seq
MIRT1490934	hsa-miR-4695-5p	CLIP-seq
MIRT1490935	hsa-miR-4707-5p	CLIP-seq
MIRT1490936	hsa-miR-4720-5p	CLIP-seq
MIRT1490937	hsa-miR-4722-5p	CLIP-seq
MIRT1490938	hsa-miR-4736	CLIP-seq
MIRT1490939	hsa-miR-4756-3p	CLIP-seq
MIRT1490940	hsa-miR-4762-5p	CLIP-seq
MIRT1490941	hsa-miR-4799-3p	CLIP-seq
MIRT1490942	hsa-miR-486-3p	CLIP-seq
MIRT1490943	hsa-miR-548ac	CLIP-seq
MIRT1490944	hsa-miR-548ae	CLIP-seq
MIRT1490945	hsa-miR-548aj	CLIP-seq
MIRT1490946	hsa-miR-548am	CLIP-seq
MIRT1490947	hsa-miR-548an	CLIP-seq
MIRT1490948	hsa-miR-548d-3p	CLIP-seq
MIRT1490949	hsa-miR-548x	CLIP-seq
MIRT1490950	hsa-miR-548z	CLIP-seq
MIRT1490951	hsa-miR-653	CLIP-seq
MIRT1490952	hsa-miR-657	CLIP-seq
MIRT1490953	hsa-miR-1208	CLIP-seq
MIRT1490954	hsa-miR-1237	CLIP-seq
MIRT1490905	hsa-miR-1291	CLIP-seq
MIRT1490955	hsa-miR-146b-3p	CLIP-seq
MIRT1490956	hsa-miR-147	CLIP-seq
MIRT1490908	hsa-miR-1972	CLIP-seq
MIRT1490957	hsa-miR-2054	CLIP-seq
MIRT1490909	hsa-miR-2467-5p	CLIP-seq
MIRT1490958	hsa-miR-3064-3p	CLIP-seq
MIRT1490959	hsa-miR-3123	CLIP-seq
MIRT1490960	hsa-miR-3180	CLIP-seq
MIRT1490961	hsa-miR-3180-3p	CLIP-seq
MIRT1490962	hsa-miR-3182	CLIP-seq
MIRT1490963	hsa-miR-3196	CLIP-seq
MIRT1490964	hsa-miR-339-5p	CLIP-seq
MIRT1490965	hsa-miR-3607-3p	CLIP-seq
MIRT1490966	hsa-miR-3620	CLIP-seq
MIRT1490967	hsa-miR-3657	CLIP-seq
MIRT1490968	hsa-miR-3686	CLIP-seq
MIRT1490969	hsa-miR-3911	CLIP-seq
MIRT1490922	hsa-miR-3919	CLIP-seq
MIRT1490970	hsa-miR-3926	CLIP-seq
MIRT1490971	hsa-miR-3934	CLIP-seq
MIRT1490972	hsa-miR-4286	CLIP-seq
MIRT1490973	hsa-miR-4488	CLIP-seq
MIRT1490974	hsa-miR-4511	CLIP-seq
MIRT1490930	hsa-miR-4650-5p	CLIP-seq
MIRT1490934	hsa-miR-4695-5p	CLIP-seq
MIRT1490975	hsa-miR-4697-5p	CLIP-seq
MIRT1490939	hsa-miR-4756-3p	CLIP-seq
MIRT1490940	hsa-miR-4762-5p	CLIP-seq
MIRT1490976	hsa-miR-548b-3p	CLIP-seq
MIRT1490977	hsa-miR-552	CLIP-seq
MIRT1490978	hsa-miR-572	CLIP-seq
MIRT1490979	hsa-miR-644	CLIP-seq
MIRT1490980	hsa-miR-892a	CLIP-seq
MIRT1490981	hsa-miR-922	CLIP-seq
MIRT2147973	hsa-miR-1207-3p	CLIP-seq
MIRT2147974	hsa-miR-1224-3p	CLIP-seq
MIRT2147975	hsa-miR-1226	CLIP-seq
MIRT2147976	hsa-miR-130a	CLIP-seq
MIRT2147977	hsa-miR-130b	CLIP-seq
MIRT2147978	hsa-miR-182	CLIP-seq
MIRT2147979	hsa-miR-187	CLIP-seq
MIRT2147980	hsa-miR-1908	CLIP-seq
MIRT1490906	hsa-miR-193a-3p	CLIP-seq
MIRT1490907	hsa-miR-193b	CLIP-seq
MIRT2147981	hsa-miR-301a	CLIP-seq
MIRT2147982	hsa-miR-301b	CLIP-seq
MIRT2147983	hsa-miR-31	CLIP-seq
MIRT2147984	hsa-miR-3152-3p	CLIP-seq
MIRT2147985	hsa-miR-3180-5p	CLIP-seq
MIRT2147986	hsa-miR-3186-3p	CLIP-seq
MIRT2147987	hsa-miR-3653	CLIP-seq
MIRT2147988	hsa-miR-3658	CLIP-seq
MIRT2147989	hsa-miR-3665	CLIP-seq
MIRT2147990	hsa-miR-3666	CLIP-seq
MIRT2147991	hsa-miR-3678-5p	CLIP-seq
MIRT2147992	hsa-miR-3688-5p	CLIP-seq
MIRT2147993	hsa-miR-3914	CLIP-seq
MIRT2147994	hsa-miR-3918	CLIP-seq
MIRT1490970	hsa-miR-3926	CLIP-seq
MIRT2147995	hsa-miR-3941	CLIP-seq
MIRT2147996	hsa-miR-4295	CLIP-seq
MIRT2147997	hsa-miR-4318	CLIP-seq
MIRT2147998	hsa-miR-4473	CLIP-seq
MIRT2147999	hsa-miR-454	CLIP-seq
MIRT2148000	hsa-miR-4640-5p	CLIP-seq
MIRT2148001	hsa-miR-466	CLIP-seq
MIRT2148002	hsa-miR-4671-3p	CLIP-seq
MIRT2148003	hsa-miR-4672	CLIP-seq
MIRT2148004	hsa-miR-4685-5p	CLIP-seq
MIRT2148005	hsa-miR-4704-5p	CLIP-seq
MIRT2148006	hsa-miR-4726-5p	CLIP-seq
MIRT2148007	hsa-miR-4733-3p	CLIP-seq
MIRT2148008	hsa-miR-520a-5p	CLIP-seq
MIRT2148009	hsa-miR-525-5p	CLIP-seq
MIRT2148010	hsa-miR-564	CLIP-seq
MIRT2148011	hsa-miR-570	CLIP-seq
MIRT2148012	hsa-miR-634	CLIP-seq
MIRT1490952	hsa-miR-657	CLIP-seq
MIRT2148013	hsa-miR-663	CLIP-seq
MIRT2148014	hsa-miR-668	CLIP-seq
MIRT2148015	hsa-miR-744	CLIP-seq
MIRT2148016	hsa-miR-892b	CLIP-seq
MIRT2368410	hsa-miR-105	CLIP-seq
MIRT1490901	hsa-miR-1184	CLIP-seq
MIRT2368411	hsa-miR-1207-5p	CLIP-seq
MIRT2147975	hsa-miR-1226	CLIP-seq
MIRT2368412	hsa-miR-1250	CLIP-seq
MIRT2368413	hsa-miR-125a-3p	CLIP-seq
MIRT2368414	hsa-miR-125a-5p	CLIP-seq
MIRT2368415	hsa-miR-125b	CLIP-seq
MIRT2368416	hsa-miR-1273d	CLIP-seq
MIRT1490904	hsa-miR-1289	CLIP-seq
MIRT1490905	hsa-miR-1291	CLIP-seq
MIRT2147976	hsa-miR-130a	CLIP-seq
MIRT2147977	hsa-miR-130b	CLIP-seq
MIRT2368417	hsa-miR-140-3p	CLIP-seq
MIRT2368418	hsa-miR-151-5p	CLIP-seq
MIRT2368419	hsa-miR-151b	CLIP-seq
MIRT2147979	hsa-miR-187	CLIP-seq
MIRT2147980	hsa-miR-1908	CLIP-seq
MIRT2368420	hsa-miR-1909	CLIP-seq
MIRT1490906	hsa-miR-193a-3p	CLIP-seq
MIRT1490907	hsa-miR-193b	CLIP-seq
MIRT1490908	hsa-miR-1972	CLIP-seq
MIRT2368421	hsa-miR-214	CLIP-seq
MIRT1490910	hsa-miR-299-3p	CLIP-seq
MIRT2147981	hsa-miR-301a	CLIP-seq
MIRT2147982	hsa-miR-301b	CLIP-seq
MIRT1490958	hsa-miR-3064-3p	CLIP-seq
MIRT2368422	hsa-miR-3065-3p	CLIP-seq
MIRT1490959	hsa-miR-3123	CLIP-seq
MIRT2368423	hsa-miR-3127-5p	CLIP-seq
MIRT2368424	hsa-miR-3131	CLIP-seq
MIRT1490912	hsa-miR-3141	CLIP-seq
MIRT1490913	hsa-miR-3156-3p	CLIP-seq
MIRT1490915	hsa-miR-3173-5p	CLIP-seq
MIRT1490916	hsa-miR-3184	CLIP-seq
MIRT2147986	hsa-miR-3186-3p	CLIP-seq
MIRT2368425	hsa-miR-3197	CLIP-seq
MIRT1490917	hsa-miR-328	CLIP-seq
MIRT2368426	hsa-miR-3545-3p	CLIP-seq
MIRT1490918	hsa-miR-3607-5p	CLIP-seq
MIRT2368427	hsa-miR-361-3p	CLIP-seq
MIRT2368428	hsa-miR-3615	CLIP-seq
MIRT2368429	hsa-miR-3619-5p	CLIP-seq
MIRT1490966	hsa-miR-3620	CLIP-seq
MIRT2368430	hsa-miR-3663-3p	CLIP-seq
MIRT2147989	hsa-miR-3665	CLIP-seq
MIRT2147990	hsa-miR-3666	CLIP-seq
MIRT2147991	hsa-miR-3678-5p	CLIP-seq
MIRT2368431	hsa-miR-3680	CLIP-seq
MIRT2147993	hsa-miR-3914	CLIP-seq
MIRT2147994	hsa-miR-3918	CLIP-seq
MIRT1490922	hsa-miR-3919	CLIP-seq
MIRT2368432	hsa-miR-3925-3p	CLIP-seq
MIRT2368433	hsa-miR-3944-5p	CLIP-seq
MIRT1490923	hsa-miR-423-5p	CLIP-seq
MIRT2368434	hsa-miR-4261	CLIP-seq
MIRT2368435	hsa-miR-4265	CLIP-seq
MIRT2368436	hsa-miR-4292	CLIP-seq
MIRT2147996	hsa-miR-4295	CLIP-seq
MIRT2368437	hsa-miR-4296	CLIP-seq
MIRT1490924	hsa-miR-4301	CLIP-seq
MIRT1490925	hsa-miR-4304	CLIP-seq
MIRT2368438	hsa-miR-4319	CLIP-seq
MIRT2368439	hsa-miR-4322	CLIP-seq
MIRT2368440	hsa-miR-4417	CLIP-seq
MIRT2368441	hsa-miR-4436b-3p	CLIP-seq
MIRT2368442	hsa-miR-4438	CLIP-seq
MIRT2368443	hsa-miR-4457	CLIP-seq
MIRT2147998	hsa-miR-4473	CLIP-seq
MIRT2368444	hsa-miR-4475	CLIP-seq
MIRT2368445	hsa-miR-4481	CLIP-seq
MIRT2368446	hsa-miR-4494	CLIP-seq
MIRT2147999	hsa-miR-454	CLIP-seq
MIRT1490928	hsa-miR-4640-3p	CLIP-seq
MIRT2148000	hsa-miR-4640-5p	CLIP-seq
MIRT1490929	hsa-miR-4642	CLIP-seq
MIRT2148002	hsa-miR-4671-3p	CLIP-seq
MIRT2368447	hsa-miR-4684-3p	CLIP-seq
MIRT2148004	hsa-miR-4685-5p	CLIP-seq
MIRT1490932	hsa-miR-4687-5p	CLIP-seq
MIRT1490933	hsa-miR-4688	CLIP-seq
MIRT2368448	hsa-miR-4691-3p	CLIP-seq
MIRT2148005	hsa-miR-4704-5p	CLIP-seq
MIRT1490935	hsa-miR-4707-5p	CLIP-seq
MIRT2368449	hsa-miR-4715-3p	CLIP-seq
MIRT2368450	hsa-miR-4717-3p	CLIP-seq
MIRT2368451	hsa-miR-4717-5p	CLIP-seq
MIRT1490936	hsa-miR-4720-5p	CLIP-seq
MIRT2368452	hsa-miR-4725-5p	CLIP-seq
MIRT2148006	hsa-miR-4726-5p	CLIP-seq
MIRT2148007	hsa-miR-4733-3p	CLIP-seq
MIRT2368453	hsa-miR-4734	CLIP-seq
MIRT2368454	hsa-miR-4737	CLIP-seq
MIRT2368455	hsa-miR-4745-5p	CLIP-seq
MIRT2368456	hsa-miR-4746-3p	CLIP-seq
MIRT2368457	hsa-miR-4761-3p	CLIP-seq
MIRT2368458	hsa-miR-4763-3p	CLIP-seq
MIRT1490941	hsa-miR-4799-3p	CLIP-seq
MIRT2368459	hsa-miR-4802-3p	CLIP-seq
MIRT2368460	hsa-miR-4802-5p	CLIP-seq
MIRT1490942	hsa-miR-486-3p	CLIP-seq
MIRT2368461	hsa-miR-504	CLIP-seq
MIRT2368462	hsa-miR-513b	CLIP-seq
MIRT2368463	hsa-miR-515-5p	CLIP-seq
MIRT2368464	hsa-miR-521	CLIP-seq
MIRT2368465	hsa-miR-542-3p	CLIP-seq
MIRT2368466	hsa-miR-548aa	CLIP-seq
MIRT1490943	hsa-miR-548ac	CLIP-seq
MIRT1490948	hsa-miR-548d-3p	CLIP-seq
MIRT1490950	hsa-miR-548z	CLIP-seq
MIRT2368467	hsa-miR-556-3p	CLIP-seq
MIRT2148010	hsa-miR-564	CLIP-seq
MIRT2368468	hsa-miR-578	CLIP-seq
MIRT2368469	hsa-miR-582-5p	CLIP-seq
MIRT2368470	hsa-miR-611	CLIP-seq
MIRT2368471	hsa-miR-622	CLIP-seq
MIRT2148012	hsa-miR-634	CLIP-seq
MIRT1490952	hsa-miR-657	CLIP-seq
MIRT2368472	hsa-miR-660	CLIP-seq
MIRT2148013	hsa-miR-663	CLIP-seq
MIRT2148014	hsa-miR-668	CLIP-seq
MIRT2368473	hsa-miR-761	CLIP-seq
MIRT2368474	hsa-miR-765	CLIP-seq
MIRT2368475	hsa-miR-766	CLIP-seq
MIRT2148016	hsa-miR-892b	CLIP-seq
MIRT1490981	hsa-miR-922	CLIP-seq
MIRT2368427	hsa-miR-361-3p	CLIP-seq
MIRT2368436	hsa-miR-4292	CLIP-seq
MIRT2695216	hsa-miR-4308	CLIP-seq
MIRT2695217	hsa-miR-4691-5p	CLIP-seq
MIRT2695218	hsa-miR-516a-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SRY	Activation	22523547

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	18838386
GO:0000123	Component	Histone acetyltransferase complex	IDA	20018852
GO:0001501	Process	Skeletal system development	IEA
GO:0005515	Function	Protein binding	IPI	12670868, 15960975, 16189514, 16713569, 16946699, 17021013, 17041588, 17178841, 17500065, 17925232, 17998332, 18378692, 18840606, 19047629, 19433796, 19556245, 20080758, 20085832, 20581860, 20818375, 21044950, 21220120, 22266653, 22665483, 23555304, 23870121, 23995757, 24788516, 249
GO:0005634	Component	Nucleus	IDA	17500065
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	19936620
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	22055187
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0035097	Component	Histone methyltransferase complex	IDA	17355966, 17500065, 19556245
GO:0042393	Function	Histone binding	IBA
GO:0042800	Function	Histone H3K4 methyltransferase activity	IEA
GO:0044545	Component	NSL complex	IDA	20018852
GO:0044665	Component	MLL1/2 complex	IPI	23508102
GO:0044666	Component	MLL3/4 complex	IDA	17500065
GO:0044666	Component	MLL3/4 complex	IPI	23508102
GO:0045722	Process	Positive regulation of gluconeogenesis	IEA
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IDA	19556245
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	24842875
GO:0045995	Process	Regulation of embryonic development	IEA
GO:0045995	Process	Regulation of embryonic development	ISO
GO:0045995	Process	Regulation of embryonic development	ISS
GO:0048188	Component	Set1C/COMPASS complex	IBA
GO:0048188	Component	Set1C/COMPASS complex	IDA	17998332, 18838538
GO:0048188	Component	Set1C/COMPASS complex	IPI	23508102
GO:0051302	Process	Regulation of cell division	IDA	20562830
GO:0051302	Process	Regulation of cell division	IEA
GO:0051302	Process	Regulation of cell division	ISS
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	IMP	19103755
GO:0051726	Process	Regulation of cell cycle	ISS
GO:0071339	Component	MLL1 complex	IDA	15960975
GO:0071339	Component	MLL1 complex	IPI	23508102
GO:0072686	Component	Mitotic spindle	NAS	20562830
GO:0140004	Function	Histone H3Q5ser reader activity	IDA	16600877
GO:0140109	Function	Histone H3K4me1 reader activity	IDA	18840606
GO:0140672	Component	ATAC complex	IDA	18838386, 19936620
GO:0140672	Component	ATAC complex	IEA
GO:0140672	Component	ATAC complex	ISO

Other IDs

• MIM: 609012
• HGNC: 12757
• e!Ensembl: ENSG00000196363

Protein

• UniProt ID: P61964
• Protein name: WD repeat-containing protein 5 (BMP2-induced 3-kb gene protein)
• Protein function: Contributes to histone modification (PubMed:16600877, PubMed:16829960, PubMed:19103755, PubMed:19131338, PubMed:19556245, PubMed:20018852). May position the N-terminus of histone H3 for efficient trimethylation at 'Lys-4' (PubMed:16829960). As p
• PDB: 2CNX, 2CO0, 2G99, 2G9A, 2GNQ, 2H13, 2H14, 2H68, 2H6K, 2H6N, 2H6Q, 2H9L, 2H9M, 2H9N, 2H9P, 2O9K, 3EG6, 3EMH, 3MXX, 3N0D, 3N0E, 3P4F, 3PSL, 3SMR, 3UR4, 3UVK, 3UVL, 3UVM, 3UVN, 3UVO, 4A7J, 4CY1, 4CY2, 4ERQ, 4ERY, 4ERZ, 4ES0, 4ESG, 4EWR, 4GM3, 4GM8, 4GM9, 4GMB, 4IA9, 4O45, 4QL1, 4Y7R, 5EAL, 5EAM, 5EAP, 5EAR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	35 → 72	WD domain, G-beta repeat	Repeat
  PF00400	WD40	77 → 115	WD domain, G-beta repeat	Repeat
  PF00400	WD40	119 → 157	WD domain, G-beta repeat	Repeat
  PF00400	WD40	161 → 199	WD domain, G-beta repeat	Repeat
  PF00400	WD40	203 → 242	WD domain, G-beta repeat	Repeat
  PF00400	WD40	246 → 287	WD domain, G-beta repeat	Repeat
  PF00400	WD40	291 → 331	WD domain, G-beta repeat	Repeat

• Sequence:

  MATEEKKPETEAARAQPTPSSSATQSKPTPVKPNYALKFTLAGHTKAVSSVKFSPNGEWL
  ASSSADKLIKIWGAYDGKFEKTISGHKLGISDVAWSSDSNLLVSASDDKTLKIWDVSSGK
  CLKTLKGHSNYVFCCNFNPQSNLIVSGSFDESVRIWDVKTGKCLKTLPAHSDPVSAVHFN
  RDGSLIVSSSYDGLCRIWDTASGQCLKTLIDDDNPPVSFVKFSPNGKYILAATLDNTLKL
  WDYSKGKCLKTYTGHKNEKYCIFANFSVTGGKWIVSGSEDNLVYIWNLQTKEIVQKLQGH
  TDVVISTACHPTENIIASAALENDKTIKLWKSDC

• Sequence length: 334

Pathways

KEGG:

Polycomb repressive complex
Cushing syndrome

Reactome:

PKMTs methylate histone lysines
HATs acetylate histones
RMTs methylate histone arginines
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
Neddylation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Congenital heart disease	Uncertain significance	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurodevelopmental disorder	Uncertain significance	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Apraxias	Associate	29463886	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Associate	36523143	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	24051437, 24120871, 26355959, 36043466	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	27192115, 35525905	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Stimulate	29925347	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Stimulate	28300833	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	29925347	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	36732025	★☆☆☆☆ Found in Text Mining only
Glioma	Associate	36732025, 36961398	★☆☆☆☆ Found in Text Mining only
Leukemia	Stimulate	27192115	★☆☆☆☆ Found in Text Mining only
Leukemia	Associate	35525905	★☆☆☆☆ Found in Text Mining only
Leukemia Biphenotypic Acute	Associate	27563068, 28633016, 36395886	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	23210835	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Stimulate	31107859	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Associate	35434944	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Associate	37021550	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Stimulate	34154613	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	36043466	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	26355959, 28182322, 29925347, 31107859, 35115608, 36081287, 36469134, 36732025	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Associate	36207403, 37741985	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Associate	36813848	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	24793694, 26355959, 27268279, 28487115	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms Castration Resistant	Associate	28487115	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	29489064, 30274785, 35280682	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Associate	31107859	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Associate	35524313, 36043466	★☆☆☆☆ Found in Text Mining only
Tuberculosis Multidrug Resistant	Inhibit	36081287	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Stimulate	34154613	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	35434944	★☆☆☆☆ Found in Text Mining only