Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7536
Gene name	Splicing factor 1
Gene symbol	SF1
Synonyms (NCBI Gene)	BBPD11S636MBBPZCCHC25ZFM1ZNF162
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

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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

Show/Hide all (3)

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

Show/Hide all (31)

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

MIM	HGNC	e!Ensembl
601516	12950	ENSG00000168066

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

Interactions

View interactions

	Reactome
			mRNA Splicing - Major Pathway

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)

Show/Hide Causal Diseases (1)

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

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
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

Show/Hide Text Mining Associations (45)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
46, XY Disorders of Sex Development	46, XY disorder of sex development	BEFREE	20861607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	Pubtator	36497102, 40421250	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25985323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	14689056, 15472171, 31831369		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	22427816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	22427816, 23866946, 23907384, 26772981, 27402544, 28658440, 37129912	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	20660055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	20302644, 36617173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	20660055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34895237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21163858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25985323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26772981	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	23390377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26527083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	25890613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	25890613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	19439508, 37432935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	21163858	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31284541		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	25617895	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16564598		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	11038323, 17694559, 19318730, 19439508, 20302644, 21163476, 22474171, 25122490, 36617173, 37432935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	17694559, 19318730, 19439508, 21163476, 21654157, 22100173, 22474171, 22549935, 25122490, 27855412, 29027299, 29891883, 39337600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	20430378, 26453052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	25890613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29687002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal dysgenesis	Pubtator	17694559, 17940071, 19318730, 21163476, 24056159	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XX	Gonadal Dysgenesis	BEFREE	22907560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	24531914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	32938406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	19439508, 37432935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	23729601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	26453052	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	22535842		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	7912130, 9150722, 9192847, 9573336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20080844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25122490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	BEFREE	10642520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	23291911, 28624161	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23291911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23291911	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23390377, 28624161	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	23729601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	36631635, 39982832	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SF1 (splicing factor 1)