SF1 (splicing factor 1)

Gene

• Entrez ID: 7536
• Gene name: Splicing factor 1
• Gene symbol: SF1
• Synonyms (NCBI Gene): BBP, D11S636, MBBP, ZCCHC25, ZFM1, ZNF162
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: This gene encodes a nuclear pre-mRNA splicing factor. The encoded protein specifically recognizes the intron branch point sequence at the 3` splice site, together with the large subunit of U2 auxiliary factor (U2AF), and is required for the early stages o

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021119	hsa-miR-186-5p	Sequencing	20371350
MIRT046884	hsa-miR-221-3p	CLASH	23622248
MIRT044484	hsa-miR-320a	CLASH	23622248
MIRT036661	hsa-miR-935	CLASH	23622248
MIRT267768	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT267764	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT267766	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT571654	hsa-miR-21-3p	PAR-CLIP	20371350
MIRT571653	hsa-miR-3591-3p	PAR-CLIP	20371350
MIRT571652	hsa-miR-3919	PAR-CLIP	20371350
MIRT333872	hsa-miR-3158-5p	PAR-CLIP	20371350
MIRT571651	hsa-miR-1184	PAR-CLIP	20371350
MIRT571650	hsa-miR-1205	PAR-CLIP	20371350
MIRT571649	hsa-miR-17-3p	PAR-CLIP	20371350
MIRT571648	hsa-miR-539-5p	PAR-CLIP	20371350
MIRT246745	hsa-miR-544a	PAR-CLIP	20371350
MIRT246751	hsa-miR-6738-3p	PAR-CLIP	20371350
MIRT560276	hsa-miR-3133	PAR-CLIP	20371350
MIRT021119	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT560275	hsa-miR-495-3p	PAR-CLIP	20371350
MIRT560274	hsa-miR-5688	PAR-CLIP	20371350
MIRT560273	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT560272	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT560271	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT560270	hsa-miR-577	PAR-CLIP	20371350
MIRT560269	hsa-miR-802	PAR-CLIP	20371350
MIRT560268	hsa-miR-3185	PAR-CLIP	20371350
MIRT560267	hsa-miR-548ao-5p	PAR-CLIP	20371350
MIRT560266	hsa-miR-548ax	PAR-CLIP	20371350
MIRT560265	hsa-miR-6124	PAR-CLIP	20371350
MIRT560264	hsa-miR-4294	PAR-CLIP	20371350
MIRT497366	hsa-miR-548ac	PAR-CLIP	22291592
MIRT497365	hsa-miR-548bb-3p	PAR-CLIP	22291592
MIRT497364	hsa-miR-548d-3p	PAR-CLIP	22291592
MIRT497363	hsa-miR-548h-3p	PAR-CLIP	22291592
MIRT497362	hsa-miR-548z	PAR-CLIP	22291592
MIRT497361	hsa-miR-548as-3p	PAR-CLIP	22291592
MIRT497360	hsa-miR-489-3p	PAR-CLIP	22291592
MIRT442736	hsa-miR-4258	PAR-CLIP	22100165
MIRT442735	hsa-miR-6859-3p	PAR-CLIP	22100165
MIRT442736	hsa-miR-4258	PAR-CLIP	22100165
MIRT442735	hsa-miR-6859-3p	PAR-CLIP	22100165
MIRT267768	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT267764	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT267766	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT571654	hsa-miR-21-3p	PAR-CLIP	20371350
MIRT571653	hsa-miR-3591-3p	PAR-CLIP	20371350
MIRT571652	hsa-miR-3919	PAR-CLIP	20371350
MIRT333872	hsa-miR-3158-5p	PAR-CLIP	20371350
MIRT571651	hsa-miR-1184	PAR-CLIP	20371350
MIRT571650	hsa-miR-1205	PAR-CLIP	20371350
MIRT571649	hsa-miR-17-3p	PAR-CLIP	20371350
MIRT571648	hsa-miR-539-5p	PAR-CLIP	20371350
MIRT246745	hsa-miR-544a	PAR-CLIP	20371350
MIRT246751	hsa-miR-6738-3p	PAR-CLIP	20371350
MIRT560276	hsa-miR-3133	PAR-CLIP	20371350
MIRT021119	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT560275	hsa-miR-495-3p	PAR-CLIP	20371350
MIRT560274	hsa-miR-5688	PAR-CLIP	20371350
MIRT560273	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT560272	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT560271	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT560270	hsa-miR-577	PAR-CLIP	20371350
MIRT560269	hsa-miR-802	PAR-CLIP	20371350
MIRT560268	hsa-miR-3185	PAR-CLIP	20371350
MIRT560267	hsa-miR-548ao-5p	PAR-CLIP	20371350
MIRT560266	hsa-miR-548ax	PAR-CLIP	20371350
MIRT560265	hsa-miR-6124	PAR-CLIP	20371350
MIRT560264	hsa-miR-4294	PAR-CLIP	20371350
MIRT497366	hsa-miR-548ac	PAR-CLIP	22291592
MIRT497365	hsa-miR-548bb-3p	PAR-CLIP	22291592
MIRT497364	hsa-miR-548d-3p	PAR-CLIP	22291592
MIRT497363	hsa-miR-548h-3p	PAR-CLIP	22291592
MIRT497362	hsa-miR-548z	PAR-CLIP	22291592
MIRT497361	hsa-miR-548as-3p	PAR-CLIP	22291592
MIRT497360	hsa-miR-489-3p	PAR-CLIP	22291592
MIRT442736	hsa-miR-4258	PAR-CLIP	22100165
MIRT442735	hsa-miR-6859-3p	PAR-CLIP	22100165
MIRT442736	hsa-miR-4258	PAR-CLIP	22100165
MIRT442735	hsa-miR-6859-3p	PAR-CLIP	22100165
MIRT1341008	hsa-miR-1207-5p	CLIP-seq
MIRT1341009	hsa-miR-3148	CLIP-seq
MIRT1341010	hsa-miR-323-3p	CLIP-seq
MIRT1341011	hsa-miR-371-5p	CLIP-seq
MIRT1341012	hsa-miR-3939	CLIP-seq
MIRT1341013	hsa-miR-421	CLIP-seq
MIRT1341014	hsa-miR-4476	CLIP-seq
MIRT1341015	hsa-miR-4533	CLIP-seq
MIRT1341016	hsa-miR-4645-5p	CLIP-seq
MIRT1341017	hsa-miR-4673	CLIP-seq
MIRT1341018	hsa-miR-4709-5p	CLIP-seq
MIRT1341019	hsa-miR-4736	CLIP-seq
MIRT1341020	hsa-miR-4763-3p	CLIP-seq
MIRT1341021	hsa-miR-505	CLIP-seq
MIRT1341022	hsa-miR-508-5p	CLIP-seq
MIRT1341023	hsa-miR-523	CLIP-seq
MIRT1341024	hsa-miR-1294	CLIP-seq
MIRT1341025	hsa-miR-1324	CLIP-seq
MIRT1341026	hsa-miR-1469	CLIP-seq
MIRT1341027	hsa-miR-181a	CLIP-seq
MIRT1341028	hsa-miR-181b	CLIP-seq
MIRT1341029	hsa-miR-181c	CLIP-seq
MIRT1341030	hsa-miR-181d	CLIP-seq
MIRT1341031	hsa-miR-1825	CLIP-seq
MIRT1341032	hsa-miR-184	CLIP-seq
MIRT1341033	hsa-miR-185	CLIP-seq
MIRT1341034	hsa-miR-3122	CLIP-seq
MIRT1341009	hsa-miR-3148	CLIP-seq
MIRT1341035	hsa-miR-3189-3p	CLIP-seq
MIRT1341036	hsa-miR-329	CLIP-seq
MIRT1341037	hsa-miR-3676	CLIP-seq
MIRT1341038	hsa-miR-3913-5p	CLIP-seq
MIRT1341039	hsa-miR-4262	CLIP-seq
MIRT1341014	hsa-miR-4476	CLIP-seq
MIRT1341040	hsa-miR-450b-3p	CLIP-seq
MIRT1341015	hsa-miR-4533	CLIP-seq
MIRT1341041	hsa-miR-4643	CLIP-seq
MIRT1341042	hsa-miR-4690-3p	CLIP-seq
MIRT1341043	hsa-miR-4768-5p	CLIP-seq
MIRT1341044	hsa-miR-4786-5p	CLIP-seq
MIRT1341045	hsa-miR-4792	CLIP-seq
MIRT1341046	hsa-miR-4803	CLIP-seq
MIRT1341047	hsa-miR-4804-5p	CLIP-seq
MIRT1341048	hsa-miR-543	CLIP-seq
MIRT1341049	hsa-miR-769-3p	CLIP-seq
MIRT1341032	hsa-miR-184	CLIP-seq
MIRT1341050	hsa-miR-3175	CLIP-seq
MIRT1341035	hsa-miR-3189-3p	CLIP-seq
MIRT1341047	hsa-miR-4804-5p	CLIP-seq
MIRT1341051	hsa-miR-103a	CLIP-seq
MIRT1341052	hsa-miR-107	CLIP-seq
MIRT1341053	hsa-miR-1301	CLIP-seq
MIRT1341032	hsa-miR-184	CLIP-seq
MIRT1341033	hsa-miR-185	CLIP-seq
MIRT1341054	hsa-miR-298	CLIP-seq
MIRT1341009	hsa-miR-3148	CLIP-seq
MIRT1341050	hsa-miR-3175	CLIP-seq
MIRT1341035	hsa-miR-3189-3p	CLIP-seq
MIRT1341055	hsa-miR-34b	CLIP-seq
MIRT1341056	hsa-miR-4655-5p	CLIP-seq
MIRT1341057	hsa-miR-4799-5p	CLIP-seq
MIRT1341047	hsa-miR-4804-5p	CLIP-seq
MIRT1341058	hsa-miR-490-5p	CLIP-seq
MIRT1341059	hsa-miR-5047	CLIP-seq
MIRT1341060	hsa-miR-922	CLIP-seq
MIRT2100901	hsa-miR-183	CLIP-seq
MIRT1341032	hsa-miR-184	CLIP-seq
MIRT1341014	hsa-miR-4476	CLIP-seq
MIRT1341015	hsa-miR-4533	CLIP-seq
MIRT1341016	hsa-miR-4645-5p	CLIP-seq
MIRT1341017	hsa-miR-4673	CLIP-seq
MIRT2100902	hsa-miR-548aa	CLIP-seq
MIRT1341051	hsa-miR-103a	CLIP-seq
MIRT1341052	hsa-miR-107	CLIP-seq
MIRT2325427	hsa-miR-125a-3p	CLIP-seq
MIRT2325428	hsa-miR-129-3p	CLIP-seq
MIRT1341024	hsa-miR-1294	CLIP-seq
MIRT1341053	hsa-miR-1301	CLIP-seq
MIRT1341025	hsa-miR-1324	CLIP-seq
MIRT1341026	hsa-miR-1469	CLIP-seq
MIRT1341027	hsa-miR-181a	CLIP-seq
MIRT1341028	hsa-miR-181b	CLIP-seq
MIRT1341029	hsa-miR-181c	CLIP-seq
MIRT1341030	hsa-miR-181d	CLIP-seq
MIRT2325429	hsa-miR-1827	CLIP-seq
MIRT1341032	hsa-miR-184	CLIP-seq
MIRT1341033	hsa-miR-185	CLIP-seq
MIRT1341054	hsa-miR-298	CLIP-seq
MIRT1341034	hsa-miR-3122	CLIP-seq
MIRT1341009	hsa-miR-3148	CLIP-seq
MIRT2325430	hsa-miR-3153	CLIP-seq
MIRT2325431	hsa-miR-3154	CLIP-seq
MIRT1341050	hsa-miR-3175	CLIP-seq
MIRT1341035	hsa-miR-3189-3p	CLIP-seq
MIRT2325432	hsa-miR-3200-5p	CLIP-seq
MIRT1341036	hsa-miR-329	CLIP-seq
MIRT1341055	hsa-miR-34b	CLIP-seq
MIRT1341037	hsa-miR-3676	CLIP-seq
MIRT1341011	hsa-miR-371-5p	CLIP-seq
MIRT1341038	hsa-miR-3913-5p	CLIP-seq
MIRT2325433	hsa-miR-3925-5p	CLIP-seq
MIRT2325434	hsa-miR-3926	CLIP-seq
MIRT2325435	hsa-miR-3934	CLIP-seq
MIRT1341012	hsa-miR-3939	CLIP-seq
MIRT1341039	hsa-miR-4262	CLIP-seq
MIRT1341014	hsa-miR-4476	CLIP-seq
MIRT1341040	hsa-miR-450b-3p	CLIP-seq
MIRT1341015	hsa-miR-4533	CLIP-seq
MIRT1341041	hsa-miR-4643	CLIP-seq
MIRT2325436	hsa-miR-4649-3p	CLIP-seq
MIRT1341056	hsa-miR-4655-5p	CLIP-seq
MIRT2325437	hsa-miR-4660	CLIP-seq
MIRT2325438	hsa-miR-4694-3p	CLIP-seq
MIRT2325439	hsa-miR-4709-3p	CLIP-seq
MIRT1341044	hsa-miR-4786-5p	CLIP-seq
MIRT2325440	hsa-miR-4790-3p	CLIP-seq
MIRT1341045	hsa-miR-4792	CLIP-seq
MIRT1341057	hsa-miR-4799-5p	CLIP-seq
MIRT1341046	hsa-miR-4803	CLIP-seq
MIRT1341047	hsa-miR-4804-5p	CLIP-seq
MIRT2325441	hsa-miR-489	CLIP-seq
MIRT1341058	hsa-miR-490-5p	CLIP-seq
MIRT1341059	hsa-miR-5047	CLIP-seq
MIRT1341023	hsa-miR-523	CLIP-seq
MIRT1341048	hsa-miR-543	CLIP-seq
MIRT2325442	hsa-miR-548s	CLIP-seq
MIRT2325443	hsa-miR-764	CLIP-seq
MIRT1341049	hsa-miR-769-3p	CLIP-seq
MIRT1341060	hsa-miR-922	CLIP-seq
MIRT1341033	hsa-miR-185	CLIP-seq
MIRT1341051	hsa-miR-103a	CLIP-seq
MIRT1341052	hsa-miR-107	CLIP-seq
MIRT2325428	hsa-miR-129-3p	CLIP-seq
MIRT1341053	hsa-miR-1301	CLIP-seq
MIRT2621109	hsa-miR-146a	CLIP-seq
MIRT2621110	hsa-miR-146b-5p	CLIP-seq
MIRT1341033	hsa-miR-185	CLIP-seq
MIRT1341009	hsa-miR-3148	CLIP-seq
MIRT2325430	hsa-miR-3153	CLIP-seq
MIRT2325431	hsa-miR-3154	CLIP-seq
MIRT1341035	hsa-miR-3189-3p	CLIP-seq
MIRT1341010	hsa-miR-323-3p	CLIP-seq
MIRT1341055	hsa-miR-34b	CLIP-seq
MIRT2325433	hsa-miR-3925-5p	CLIP-seq
MIRT2325434	hsa-miR-3926	CLIP-seq
MIRT1341012	hsa-miR-3939	CLIP-seq
MIRT1341013	hsa-miR-421	CLIP-seq
MIRT2621111	hsa-miR-4475	CLIP-seq
MIRT1341014	hsa-miR-4476	CLIP-seq
MIRT1341015	hsa-miR-4533	CLIP-seq
MIRT2325439	hsa-miR-4709-3p	CLIP-seq
MIRT1341018	hsa-miR-4709-5p	CLIP-seq
MIRT2621112	hsa-miR-4747-5p	CLIP-seq
MIRT2325440	hsa-miR-4790-3p	CLIP-seq
MIRT1341057	hsa-miR-4799-5p	CLIP-seq
MIRT1341058	hsa-miR-490-5p	CLIP-seq
MIRT1341059	hsa-miR-5047	CLIP-seq
MIRT1341021	hsa-miR-505	CLIP-seq
MIRT1341023	hsa-miR-523	CLIP-seq
MIRT2621113	hsa-miR-539	CLIP-seq
MIRT2621114	hsa-miR-544	CLIP-seq
MIRT2100902	hsa-miR-548aa	CLIP-seq
MIRT2325442	hsa-miR-548s	CLIP-seq
MIRT1341060	hsa-miR-922	CLIP-seq
MIRT1341051	hsa-miR-103a	CLIP-seq
MIRT1341052	hsa-miR-107	CLIP-seq
MIRT2325428	hsa-miR-129-3p	CLIP-seq
MIRT1341053	hsa-miR-1301	CLIP-seq
MIRT2621109	hsa-miR-146a	CLIP-seq
MIRT2621110	hsa-miR-146b-5p	CLIP-seq
MIRT1341033	hsa-miR-185	CLIP-seq
MIRT1341054	hsa-miR-298	CLIP-seq
MIRT1341009	hsa-miR-3148	CLIP-seq
MIRT2325430	hsa-miR-3153	CLIP-seq
MIRT2325431	hsa-miR-3154	CLIP-seq
MIRT1341035	hsa-miR-3189-3p	CLIP-seq
MIRT1341010	hsa-miR-323-3p	CLIP-seq
MIRT1341055	hsa-miR-34b	CLIP-seq
MIRT2325433	hsa-miR-3925-5p	CLIP-seq
MIRT2325434	hsa-miR-3926	CLIP-seq
MIRT1341012	hsa-miR-3939	CLIP-seq
MIRT1341013	hsa-miR-421	CLIP-seq
MIRT2621111	hsa-miR-4475	CLIP-seq
MIRT1341015	hsa-miR-4533	CLIP-seq
MIRT2325439	hsa-miR-4709-3p	CLIP-seq
MIRT1341018	hsa-miR-4709-5p	CLIP-seq
MIRT2621112	hsa-miR-4747-5p	CLIP-seq
MIRT1341057	hsa-miR-4799-5p	CLIP-seq
MIRT1341058	hsa-miR-490-5p	CLIP-seq
MIRT1341059	hsa-miR-5047	CLIP-seq
MIRT1341021	hsa-miR-505	CLIP-seq
MIRT1341023	hsa-miR-523	CLIP-seq
MIRT2621113	hsa-miR-539	CLIP-seq
MIRT2621114	hsa-miR-544	CLIP-seq
MIRT2100902	hsa-miR-548aa	CLIP-seq
MIRT2325442	hsa-miR-548s	CLIP-seq
MIRT1341060	hsa-miR-922	CLIP-seq
MIRT1341035	hsa-miR-3189-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SOX9	Unknown	12837698
USF1	Unknown	18165439
USF2	Unknown	18165439

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000245	Process	Spliceosomal complex assembly	NAS	8752089
GO:0000389	Process	MRNA 3'-splice site recognition	TAS	15647371
GO:0000398	Process	MRNA splicing, via spliceosome	IC	9731529
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	17024186
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003714	Function	Transcription corepressor activity	TAS	9660765
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	TAS	8752089
GO:0003729	Function	MRNA binding	IBA
GO:0005515	Function	Protein binding	IPI	10449420, 12718882, 16189514, 17332742, 17589525, 22365833, 23273425, 25416956, 26420826, 31515488, 32296183, 32814053, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	7912130, 17024186
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IDA	9731529
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	IPI	23273425
GO:0005840	Component	Ribosome	NAS	8752089
GO:0006397	Process	MRNA processing	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0042802	Function	Identical protein binding	IPI	22365833, 26420826
GO:0045292	Process	MRNA cis splicing, via spliceosome	IBA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048662	Process	Negative regulation of smooth muscle cell proliferation	IEA
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0089701	Component	U2AF complex	IPI	23273425

Other IDs

• MIM: 601516
• HGNC: 12950
• e!Ensembl: ENSG00000168066

Protein

• UniProt ID: Q15637
• Protein name: Splicing factor 1 (Mammalian branch point-binding protein) (BBP) (mBBP) (Transcription factor ZFM1) (Zinc finger gene in MEN1 locus) (Zinc finger protein 162)
• Protein function: Necessary for the ATP-dependent first step of spliceosome assembly. Binds to the intron branch point sequence (BPS) 5'-UACUAAC-3' of the pre-mRNA. May act as transcription repressor. {ECO:0000269|PubMed:10449420, ECO:0000269|PubMed:8752089, ECO:
• PDB: 1K1G, 1O0P, 1OPI, 2M09, 2M0G, 4FXW, 4FXX, 7VH9, 7VPX, 8PXX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16275	SF1-HH	18 → 130	Splicing factor 1 helix-hairpin domain	Domain
  PF00013	KH_1	137 → 224	KH domain	Domain
  PF00098	zf-CCHC	278 → 293	Zinc knuckle	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in lung, ovary, adrenal gland, colon, kidney, muscle, pancreas, thyroid, placenta, brain, liver and heart. {ECO:0000269|PubMed:7912130}.
• Sequence:

  MATGANATPLDFPSKKRKRSRWNQDTMEQKTVIPGMPTVIPPGLTREQERAYIVQLQIED
  LTRKLRTGDLGIPPNPEDRSPSPEPIYNSEGKRLNTREFRTRKKLEEERHNLITEMVALN
  PDFKPPADYKPPATRVSDKVMIPQDEYPEINFVGLLIGPRGNTLKNIEKECNAKIMIRGK
  GSVKEGKVGRKDGQMLPGEDEPLHALVTANTMENVKKAVEQIRNILKQGIETPEDQNDLR
  KMQLRELARLNGTLREDDNRILRPWQSSETRSITNTTVCTKCGGAGHIASDCKFQRPGDP
  QSAQDKARMDKEYLSLMAELGEAPVPASVGSTSGPATTPLASAPRPAAPANNPPPPSLMS
  TTQSRPPWMNSGPSESRPYHGMHGGGPGGPGGGPHSFPHPLPSLTGGHGGHPMQHNPNGP
  PPPWMQPPPPPMNQGPHPPGHHGPPPMDQYLGSTPVGSGVYRLHQGKGMMPPPPMGMMPP
  PPPPPSGQPPPPPSGPLPPWQQQQQQPPPPPPPSSSMASSTPLPWQQNTTTTTTSAGTGS
  IPPWQQQQAAAAASPGAPQMQGNPTMVPLPPGVQPPLPPGAPPPPPPPPPGSAGMMYAPP
  PPPPPPMDPSNFVTMMGMGVAGMPPFGMPPAPPPPPPQN

• Sequence length: 639

Pathways

Reactome:

mRNA Splicing - Major Pathway

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Neurodevelopmental disorder	Likely pathogenic	rs1430022410	RCV001780022	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
46 XX Testicular Disorders of Sex Development	Associate	14689056	★☆☆☆☆ Found in Text Mining only
46 XY female	Associate	19439508, 21654157	★☆☆☆☆ Found in Text Mining only
Acromegaly	Associate	36497102, 40421250	★☆☆☆☆ Found in Text Mining only
ACTH Secreting Pituitary Adenoma	Associate	21467194	★☆☆☆☆ Found in Text Mining only
Addison Disease	Associate	11038323, 28624161	★☆☆☆☆ Found in Text Mining only
Adrenal Gland Diseases	Associate	21239516, 37432935	★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Associate	21239516	★☆☆☆☆ Found in Text Mining only
Adrenal Insufficiency	Associate	11038323, 17694559, 19318730, 22100173, 25122490, 28624161	★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Associate	22427816, 23866946, 23907384, 26772981, 27402544, 28658440, 37129912	★☆☆☆☆ Found in Text Mining only
Allanson Pantzar McLeod syndrome	Associate	21163476	★☆☆☆☆ Found in Text Mining only
Amenorrhea	Associate	20302644, 36617173	★☆☆☆☆ Found in Text Mining only
Anorchia	Associate	17940071	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	34895237	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	21163858	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Stimulate	26772981	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Associate	23390377	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Associate	26527083	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	25890613	★☆☆☆☆ Found in Text Mining only
Coronary Disease	Associate	25890613	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Associate	19439508, 37432935	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Associate	21163858	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	25617895	★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	Associate	11038323, 17694559, 19318730, 19439508, 20302644, 21163476, 22474171, 25122490, 36617173, 37432935	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Associate	17694559, 19318730, 19439508, 21163476, 21654157, 22100173, 22474171, 22549935, 25122490, 27855412, 29027299, 29891883, 39337600	★☆☆☆☆ Found in Text Mining only
Endodermal Sinus Tumor	Associate	26076062	★☆☆☆☆ Found in Text Mining only
Endometriosis	Associate	20430378, 26453052	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Associate	25890613	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	29687002	★☆☆☆☆ Found in Text Mining only
Gonadal Disorders	Associate	16684822	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Associate	17694559, 17940071, 19318730, 21163476, 24056159	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis 46 XY	Associate	17694559	★☆☆☆☆ Found in Text Mining only
Granulosa Cell Tumor	Associate	26076062	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Associate	24531914	★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Associate	32938406	★☆☆☆☆ Found in Text Mining only
Hypospadias	Associate	19439508, 37432935	★☆☆☆☆ Found in Text Mining only
Infertility	Associate	26453052	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathies	Associate	17940071	★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Associate	9506990	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	20717480, 22427816, 33128255, 36335378, 36497102, 36813116, 40421250	★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	22301800, 23390377	★☆☆☆☆ Found in Text Mining only
Neoplasms Cystic Mucinous and Serous	Associate	32880620	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Associate	34758873	★☆☆☆☆ Found in Text Mining only
Obesity	Associate	25122490	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Associate	23291911, 28624161	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Inhibit	23291911	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	23390377, 28624161	★☆☆☆☆ Found in Text Mining only
Ovotesticular Disorders of Sex Development	Associate	27855412	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Associate	16127213, 17940071	★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Associate	36631635, 39982832	★☆☆☆☆ Found in Text Mining only
Plaque Atherosclerotic	Associate	32938406	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	28245838	★☆☆☆☆ Found in Text Mining only
Primary Ovarian Insufficiency	Associate	22100173	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Associate	11038323, 16684822, 17694559, 19318730	★☆☆☆☆ Found in Text Mining only
Rupture	Associate	32938406	★☆☆☆☆ Found in Text Mining only
Sertoli Cell Tumor	Associate	21163476	★☆☆☆☆ Found in Text Mining only