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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23451
Gene name	Splicing factor 3b subunit 1
Gene symbol	SF3B1
Synonyms (NCBI Gene)	Hsh155MDSPRP10PRPF10SAP155SF3b155
Chromosome	2
Chromosome location	2q33.1
Summary	This gene encodes subunit 1 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-m

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SNP ID	Visualize variation	Clinical significance	Consequence
rs374250186	T>A,C,G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs377023736	C>A,G	Not-provided, likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs559063155	T>A,C,G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, stop gained, non coding transcript variant
rs754688962	T>C,G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs755415626	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs775623976	G>A,C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1057519755	T>A,G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1057519756	T>A,C,G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant
rs1057519961	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, genic downstream transcript variant

215

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miRTarBase ID	miRNA	Experiments	Reference
MIRT052156	hsa-let-7b-5p	CLASH	23622248
MIRT042496	hsa-miR-423-3p	CLASH	23622248
MIRT041092	hsa-miR-504-5p	CLASH	23622248
MIRT040227	hsa-miR-615-3p	CLASH	23622248
MIRT052776	hsa-miR-1260b	CLASH	23622248
MIRT631736	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT631735	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT631734	hsa-miR-4532	HITS-CLIP	23824327
MIRT631733	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT631732	hsa-miR-1281	HITS-CLIP	23824327
MIRT666447	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT631731	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT666446	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT666445	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT631730	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT631729	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT666444	hsa-miR-4284	HITS-CLIP	23824327
MIRT631728	hsa-miR-498	HITS-CLIP	23824327
MIRT631736	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT631735	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT631734	hsa-miR-4532	HITS-CLIP	23824327
MIRT631733	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT631732	hsa-miR-1281	HITS-CLIP	23824327
MIRT631731	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT631730	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT631729	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT631728	hsa-miR-498	HITS-CLIP	23824327
MIRT627622	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT627621	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT627620	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT627619	hsa-miR-325	HITS-CLIP	23824327
MIRT627618	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT627617	hsa-miR-3199	HITS-CLIP	23824327
MIRT627616	hsa-miR-8052	HITS-CLIP	23824327
MIRT627615	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT627614	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT529768	hsa-miR-495-5p	PAR-CLIP	22012620
MIRT529767	hsa-miR-382-5p	PAR-CLIP	22012620
MIRT529766	hsa-miR-3529-5p	PAR-CLIP	22012620
MIRT529765	hsa-miR-379-5p	PAR-CLIP	22012620
MIRT529764	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT439662	hsa-miR-493-5p	HITS-CLIP	24374217
MIRT439660	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT439661	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT439662	hsa-miR-493-5p	HITS-CLIP	24374217
MIRT439660	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT439661	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT631736	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT631735	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT631734	hsa-miR-4532	HITS-CLIP	23824327
MIRT631733	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT631732	hsa-miR-1281	HITS-CLIP	23824327
MIRT666447	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT631731	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT666446	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT666445	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT631730	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT631729	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT666444	hsa-miR-4284	HITS-CLIP	23824327
MIRT631728	hsa-miR-498	HITS-CLIP	23824327
MIRT631736	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT631735	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT631734	hsa-miR-4532	HITS-CLIP	23824327
MIRT631733	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT631732	hsa-miR-1281	HITS-CLIP	23824327
MIRT631731	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT631730	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT631729	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT631728	hsa-miR-498	HITS-CLIP	23824327
MIRT627622	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT627621	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT627620	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT627619	hsa-miR-325	HITS-CLIP	23824327
MIRT627618	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT627617	hsa-miR-3199	HITS-CLIP	23824327
MIRT627616	hsa-miR-8052	HITS-CLIP	23824327
MIRT627615	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT627614	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT529768	hsa-miR-495-5p	PAR-CLIP	22012620
MIRT529767	hsa-miR-382-5p	PAR-CLIP	22012620
MIRT529766	hsa-miR-3529-5p	PAR-CLIP	22012620
MIRT529765	hsa-miR-379-5p	PAR-CLIP	22012620
MIRT529764	hsa-miR-4639-5p	PAR-CLIP	22012620
MIRT1341177	hsa-miR-1208	CLIP-seq
MIRT1341178	hsa-miR-1236	CLIP-seq
MIRT1341179	hsa-miR-1243	CLIP-seq
MIRT1341180	hsa-miR-1256	CLIP-seq
MIRT1341181	hsa-miR-1290	CLIP-seq
MIRT1341182	hsa-miR-18a	CLIP-seq
MIRT1341183	hsa-miR-18b	CLIP-seq
MIRT1341184	hsa-miR-193a-3p	CLIP-seq
MIRT1341185	hsa-miR-193b	CLIP-seq
MIRT1341186	hsa-miR-2116	CLIP-seq
MIRT1341187	hsa-miR-3143	CLIP-seq
MIRT1341188	hsa-miR-3167	CLIP-seq
MIRT1341189	hsa-miR-3168	CLIP-seq
MIRT1341190	hsa-miR-330-3p	CLIP-seq
MIRT1341191	hsa-miR-34b	CLIP-seq
MIRT1341192	hsa-miR-3654	CLIP-seq
MIRT1341193	hsa-miR-3925-3p	CLIP-seq
MIRT1341194	hsa-miR-410	CLIP-seq
MIRT1341195	hsa-miR-4277	CLIP-seq
MIRT1341196	hsa-miR-4280	CLIP-seq
MIRT1341197	hsa-miR-4477b	CLIP-seq
MIRT1341198	hsa-miR-452	CLIP-seq
MIRT1341199	hsa-miR-4676-3p	CLIP-seq
MIRT1341200	hsa-miR-4677-5p	CLIP-seq
MIRT1341201	hsa-miR-4693-5p	CLIP-seq
MIRT1341202	hsa-miR-4699-3p	CLIP-seq
MIRT1341203	hsa-miR-4712-5p	CLIP-seq
MIRT1341204	hsa-miR-4720-5p	CLIP-seq
MIRT1341205	hsa-miR-4735-3p	CLIP-seq
MIRT1341206	hsa-miR-4799-3p	CLIP-seq
MIRT1341207	hsa-miR-4799-5p	CLIP-seq
MIRT1341208	hsa-miR-499-3p	CLIP-seq
MIRT1341209	hsa-miR-499a-3p	CLIP-seq
MIRT1341210	hsa-miR-561	CLIP-seq
MIRT1341211	hsa-miR-770-5p	CLIP-seq
MIRT1341212	hsa-miR-876-5p	CLIP-seq
MIRT1341213	hsa-miR-892a	CLIP-seq
MIRT1341214	hsa-miR-892b	CLIP-seq
MIRT1341177	hsa-miR-1208	CLIP-seq
MIRT1341180	hsa-miR-1256	CLIP-seq
MIRT2100986	hsa-miR-1470	CLIP-seq
MIRT1341182	hsa-miR-18a	CLIP-seq
MIRT1341183	hsa-miR-18b	CLIP-seq
MIRT1341184	hsa-miR-193a-3p	CLIP-seq
MIRT1341185	hsa-miR-193b	CLIP-seq
MIRT1341186	hsa-miR-2116	CLIP-seq
MIRT1341187	hsa-miR-3143	CLIP-seq
MIRT1341190	hsa-miR-330-3p	CLIP-seq
MIRT1341191	hsa-miR-34b	CLIP-seq
MIRT1341193	hsa-miR-3925-3p	CLIP-seq
MIRT1341194	hsa-miR-410	CLIP-seq
MIRT1341196	hsa-miR-4280	CLIP-seq
MIRT1341197	hsa-miR-4477b	CLIP-seq
MIRT1341198	hsa-miR-452	CLIP-seq
MIRT2100987	hsa-miR-4667-3p	CLIP-seq
MIRT1341199	hsa-miR-4676-3p	CLIP-seq
MIRT1341200	hsa-miR-4677-5p	CLIP-seq
MIRT1341201	hsa-miR-4693-5p	CLIP-seq
MIRT1341202	hsa-miR-4699-3p	CLIP-seq
MIRT1341203	hsa-miR-4712-5p	CLIP-seq
MIRT1341204	hsa-miR-4720-5p	CLIP-seq
MIRT2100988	hsa-miR-4731-3p	CLIP-seq
MIRT1341205	hsa-miR-4735-3p	CLIP-seq
MIRT1341206	hsa-miR-4799-3p	CLIP-seq
MIRT2100989	hsa-miR-4801	CLIP-seq
MIRT2100990	hsa-miR-548c-3p	CLIP-seq
MIRT2100991	hsa-miR-605	CLIP-seq
MIRT1341211	hsa-miR-770-5p	CLIP-seq
MIRT1341213	hsa-miR-892a	CLIP-seq
MIRT1341214	hsa-miR-892b	CLIP-seq
MIRT2325498	hsa-miR-136	CLIP-seq
MIRT2325499	hsa-miR-214	CLIP-seq
MIRT2325500	hsa-miR-3619-5p	CLIP-seq
MIRT1341195	hsa-miR-4277	CLIP-seq
MIRT2325501	hsa-miR-4291	CLIP-seq
MIRT2325502	hsa-miR-761	CLIP-seq
MIRT2325503	hsa-miR-922	CLIP-seq
MIRT2394283	hsa-miR-204	CLIP-seq
MIRT2394284	hsa-miR-211	CLIP-seq
MIRT2394285	hsa-miR-3938	CLIP-seq
MIRT2394286	hsa-miR-4457	CLIP-seq
MIRT2100988	hsa-miR-4731-3p	CLIP-seq
MIRT2394287	hsa-miR-4755-5p	CLIP-seq
MIRT2100989	hsa-miR-4801	CLIP-seq
MIRT2394288	hsa-miR-543	CLIP-seq
MIRT2394289	hsa-miR-623	CLIP-seq
MIRT1341180	hsa-miR-1256	CLIP-seq
MIRT2433051	hsa-miR-154	CLIP-seq
MIRT1341187	hsa-miR-3143	CLIP-seq
MIRT1341190	hsa-miR-330-3p	CLIP-seq
MIRT2433052	hsa-miR-3613-3p	CLIP-seq
MIRT1341197	hsa-miR-4477b	CLIP-seq
MIRT1341198	hsa-miR-452	CLIP-seq
MIRT1341199	hsa-miR-4676-3p	CLIP-seq
MIRT1341201	hsa-miR-4693-5p	CLIP-seq
MIRT1341202	hsa-miR-4699-3p	CLIP-seq
MIRT1341187	hsa-miR-3143	CLIP-seq
MIRT2433052	hsa-miR-3613-3p	CLIP-seq
MIRT1341178	hsa-miR-1236	CLIP-seq
MIRT1341179	hsa-miR-1243	CLIP-seq
MIRT1341180	hsa-miR-1256	CLIP-seq
MIRT1341181	hsa-miR-1290	CLIP-seq
MIRT2433051	hsa-miR-154	CLIP-seq
MIRT1341187	hsa-miR-3143	CLIP-seq
MIRT1341188	hsa-miR-3167	CLIP-seq
MIRT1341189	hsa-miR-3168	CLIP-seq
MIRT2433052	hsa-miR-3613-3p	CLIP-seq
MIRT1341192	hsa-miR-3654	CLIP-seq
MIRT1341195	hsa-miR-4277	CLIP-seq
MIRT1341198	hsa-miR-452	CLIP-seq
MIRT1341199	hsa-miR-4676-3p	CLIP-seq
MIRT1341201	hsa-miR-4693-5p	CLIP-seq
MIRT1341202	hsa-miR-4699-3p	CLIP-seq
MIRT2100990	hsa-miR-548c-3p	CLIP-seq
MIRT1341212	hsa-miR-876-5p	CLIP-seq
MIRT1341178	hsa-miR-1236	CLIP-seq
MIRT1341179	hsa-miR-1243	CLIP-seq
MIRT1341180	hsa-miR-1256	CLIP-seq
MIRT1341181	hsa-miR-1290	CLIP-seq
MIRT2433051	hsa-miR-154	CLIP-seq
MIRT1341187	hsa-miR-3143	CLIP-seq
MIRT1341188	hsa-miR-3167	CLIP-seq
MIRT1341189	hsa-miR-3168	CLIP-seq
MIRT2433052	hsa-miR-3613-3p	CLIP-seq
MIRT1341192	hsa-miR-3654	CLIP-seq
MIRT1341195	hsa-miR-4277	CLIP-seq
MIRT1341198	hsa-miR-452	CLIP-seq
MIRT1341199	hsa-miR-4676-3p	CLIP-seq
MIRT1341201	hsa-miR-4693-5p	CLIP-seq
MIRT1341202	hsa-miR-4699-3p	CLIP-seq
MIRT2100990	hsa-miR-548c-3p	CLIP-seq
MIRT1341212	hsa-miR-876-5p	CLIP-seq

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Transcription factor	Regulation	Reference
SF1	Unknown	16376933

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000245	Process	Spliceosomal complex assembly	IBA
GO:0000245	Process	Spliceosomal complex assembly	IEA
GO:0000375	Process	RNA splicing, via transesterification reactions	NAS	9585501
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	11252167
GO:0000398	Process	MRNA splicing, via spliceosome	IDA	27720643, 28781166, 29360106, 32494006, 34822310, 36797247
GO:0000398	Process	MRNA splicing, via spliceosome	IEA
GO:0000398	Process	MRNA splicing, via spliceosome	NAS	9585501, 31744343
GO:0000785	Component	Chromatin	IEA
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IDA	27720643
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IBA
GO:0003729	Function	MRNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16432215, 17332742, 17589525, 19515850, 21062891, 22365833, 26575292, 27720643, 28514442, 30567737, 33961781, 35271311, 37207277, 37219487
GO:0005634	Component	Nucleus	IDA	18559850, 27720643, 28541300, 28781166, 29360106
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	31744343
GO:0005654	Component	Nucleoplasm	TAS
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005681	Component	Spliceosomal complex	NAS	9585501, 31744343
GO:0005684	Component	U2-type spliceosomal complex	IDA	32494006, 34822310, 36797247
GO:0005684	Component	U2-type spliceosomal complex	IPI	27720643
GO:0005686	Component	U2 snRNP	IBA
GO:0005686	Component	U2 snRNP	IDA	11252167
GO:0005686	Component	U2 snRNP	IEA
GO:0005686	Component	U2 snRNP	NAS	31744343
GO:0005689	Component	U12-type spliceosomal complex	IBA
GO:0005689	Component	U12-type spliceosomal complex	IDA	15146077
GO:0005730	Component	Nucleolus	NAS	23555303
GO:0006338	Process	Chromatin remodeling	NAS	12769854
GO:0006397	Process	MRNA processing	IEA
GO:0008380	Process	RNA splicing	IC	27720643
GO:0008380	Process	RNA splicing	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0031981	Component	Nuclear lumen	IEA
GO:0034693	Component	U11/U12 snRNP	IDA	11252167
GO:0045943	Process	Positive regulation of transcription by RNA polymerase I	NAS	23555303
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	NAS	26044184
GO:0045945	Process	Positive regulation of transcription by RNA polymerase III	IDA	16603771
GO:0071004	Component	U2-type prespliceosome	IBA
GO:0071005	Component	U2-type precatalytic spliceosome	IDA	28781166, 29360106
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638
GO:0110016	Component	B-WICH complex	IDA	16603771
GO:1903241	Process	U2-type prespliceosome assembly	NAS	31744343
GO:1990935	Function	Splicing factor binding	IDA	27720643
GO:1990935	Function	Splicing factor binding	IPI	16376933

MIM	HGNC	e!Ensembl
605590	10768	ENSG00000115524

O75533

Protein name

Splicing factor 3B subunit 1 (Pre-mRNA-splicing factor SF3b 155 kDa subunit) (SF3b155) (Spliceosome-associated protein 155) (SAP 155)

Protein function

Component of the 17S U2 SnRNP complex of the spliceosome, a large ribonucleoprotein complex that removes introns from transcribed pre-mRNAs (PubMed:12234937, PubMed:27720643, PubMed:32494006, PubMed:34822310). The 17S U2 SnRNP complex (1) direct

PDB

2F9D , 2F9J , 2FHO , 2PEH , 3LQV , 4OZ1 , 5IFE , 5O9Z , 5Z56 , 5Z57 , 5Z58 , 5ZYA , 6AH0 , 6AHD , 6EN4 , 6FF4 , 6FF7 , 6N3E , 6QX9 , 6Y50 , 6Y53 , 6Y5Q , 7ABG , 7ABH , 7ABI , 7B0I , 7B91 , 7B92 , 7B9C , 7DVQ , 7EVN , 7EVO , 7OMF , 7ONB , 7OPI , 7Q3L , 7Q4O , 7Q4P , 7QTT , 7SN6 , 7VPX , 8CH6 , 8H6E , 8H6J , 8H6K , 8H6L , 8HK1 , 8I0P , 8I0R , 8I0S , 8I0T

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08920	SF3b1	329 → 452	Splicing factor 3B subunit 1	Domain

Sequence

MAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAA
TELEDDDDDYSSSTSLLGQKKPGYHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYK
KHRRTMIISPERLDPFADGGKTPDPKMNARTYMDVMREQHLTKEEREIRQQLAEKAKAGE
LKVVNGAAASQPPSKRKRRWDQTADQTPGATPKKLSSWDQAETPGHTPSLRWDETPGRAK
GSETPGATPGSKIWDPTPSHTPAGAATPGRGDTPGHATPGHGGATSSARKNRWDETPKTE
RDTPGHGSGWAETPRTDRGGDSIGETPTPGASKRKSRWDETPASQMGGSTPVLTPGKTPI
GTPAMNMATPTPGHIMSMTPEQLQAWRWEREIDERNRPLSDEELDAMFPEGYKVLPPPAG
YVPIRTPARKLTATPTPLGGMTGFHMQTEDRTMKSVNDQPSGNLPFLKPDDIQYFDKLLV
DVDESTLSPEEQKERKIMKLLLKIKNGTPPMRKAALRQITDKAREFGAGPLFNQILPLLM
SPTLEDQERHLLVKVIDRILYKLDDLVRPYVHKILVVIEPLLIDEDYYARVEGREIISNL
AKAAGLATMISTMRPDIDNMDEYVRNTTARAFAVVASALGIPSLLPFLKAVCKSKKSWQA
RHTGIKIVQQIAILMGCAILPHLRSLVEIIEHGLVDEQQKVRTISALAIAALAEAATPYG
IESFDSVLKPLWKGIRQHRGKGLAAFLKAIGYLIPLMDAEYANYYTREVMLILIREFQSP
DEEMKKIVLKVVKQCCGTDGVEANYIKTEILPPFFKHFWQHRMALDRRNYRQLVDTTVEL
ANKVGAAEIISRIVDDLKDEAEQYRKMVMETIEKIMGNLGAADIDHKLEEQLIDGILYAF
QEQTTEDSVMLNGFGTVVNALGKRVKPYLPQICGTVLWRLNNKSAKVRQQAADLISRTAV
VMKTCQEEKLMGHLGVVLYEYLGEEYPEVLGSILGALKAIVNVIGMHKMTPPIKDLLPRL
TPILKNRHEKVQENCIDLVGRIADRGAEYVSAREWMRICFELLELLKAHKKAIRRATVNT
FGYIAKAIGPHDVLATLLNNLKVQERQNRVCTTVAIAIVAETCSPFTVLPALMNEYRVPE
LNVQNGVLKSLSFLFEYIGEMGKDYIYAVTPLLEDALMDRDLVHRQTASAVVQHMSLGVY
GFGCEDSLNHLLNYVWPNVFETSPHVIQAVMGALEGLRVAIGPCRMLQYCLQGLFHPARK
VRDVYWKIYNSIYIGSQDALIAHYPRIYNDDKNTYIRYELDYIL

Sequence length

1304

Interactions

View interactions

	KEGG		Reactome
	Spliceosome		B-WICH complex positively regulates rRNA expression mRNA Splicing - Major Pathway mRNA Splicing - Minor 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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic	rs377023736	RCV000420231	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplastic syndrome	Likely pathogenic; Pathogenic	rs377023736	RCV000431140 RCV005252885	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplastic syndrome progressed to acute myeloid leukemia	Likely pathogenic; Pathogenic	rs377023736	RCV000203465	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (32)

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.
Acral lentiginous melanoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic myelogenous leukemia, BCR-ABL1 positive	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, LYMPHOCYTIC, CHRONIC, B-CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROMES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Conflicting classifications of pathogenicity; -	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SF3B1-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UVEAL MELANOMA	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (92)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	33057152	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Associate	29433555, 32243522, 34930825	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Associate	34587721	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Associate	26255870	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Associate	22096241, 23070040, 23300182, 24723457, 25428262, 25955609, 25957392, 26874914, 28545085, 29433555	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Refractory with Excess of Blasts	Associate	22096241	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sideroblastic	Associate	34861039, 34930825	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sideroblastic Pyridoxine Refractory Autosomal Recessive	Associate	25957392	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneuploidy	Associate	37463047	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Associate	30726782, 32573691	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bjornstad syndrome	Associate	37558665	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Associate	35427424	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	22722193, 25424858, 25431237, 28198434, 29023197, 36792691, 38003265, 38523186	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Inhibit	25139387	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	32188705, 33932092, 34502260	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	28622513, 32352217, 32552682, 34288818	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Associate	38523186	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	28296343, 33407425, 34299277	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Associate	33932092	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome 12 12p trisomy	Associate	31230372	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome Aberrations	Associate	36411516	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Stimulate	22496461	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	28747380, 29641532	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	22722193	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Associate	39460851	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Associate	29866652, 34963005	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Associate	38305890	★★★★★ ★☆☆☆☆ Found in Text Mining only
Drug Related Side Effects and Adverse Reactions	Associate	34645977	★★★★★ ★☆☆☆☆ Found in Text Mining only
Drug Resistant Epilepsy	Associate	22096241, 24550227	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Associate	32320410	★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Tremor	Associate	31945802	★★★★★ ★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Associate	37103105	★★★★★ ★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Associate	32143579	★★★★★ ★☆☆☆☆ Found in Text Mining only
Genomic Instability	Associate	32397113, 35014928	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Associate	21995386, 31350794, 37463047	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Associate	30577887, 31640290, 32320410, 32332164, 33155727, 34570179, 35478057, 36792691, 40158006	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomagnesemia primary	Associate	25381062, 35470277	★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	36040792, 39235452	★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Associate	23300182	★★★★★ ★☆☆☆☆ Found in Text Mining only
Isodicentric Chromosome 15 Syndrome	Associate	25381062	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kotzot Richter syndrome	Associate	30508305	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Associate	22096241, 25326804, 28076841, 35061527, 35478057	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia B Cell	Associate	37523714	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Lymphocytic Chronic B Cell	Associate	22039264, 22150006, 23086750, 23243274, 23637131, 24030933, 24047479, 24550227, 24652989, 25377784, 25480502, 25605254, 26053404, 26240275, 26314984 View all (37 more)	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	32694616	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Associate	28545085, 31030497, 33978189, 34681880	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	21998214, 22773603, 22912701, 25331116, 25550361, 27983727, 30587503, 32001512, 32112433, 32320410, 32380535, 32699322, 32732356, 33081843, 33539200 View all (16 more)	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Associate	22773603, 23335386, 35236051	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Associate	22773603	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Plasma Cell	Associate	35666668	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Prolymphocytic T Cell	Associate	24032483, 25257310, 30022491, 30924136, 31230372, 31243771, 39794120	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia T Cell	Associate	35061527	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Associate	40269371	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	33407425	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Associate	25326804	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma Large B Cell Diffuse	Associate	36215154	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	27089234, 27739435, 28296713, 29371009, 30558566, 30605742, 31320640, 33724703, 34071371, 34102999, 34571863	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Associate	23694694, 24709888, 29641532	★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningeal Neoplasms	Associate	26769193	★★★★★ ★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Associate	29417633	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Associate	27211273	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	32079689	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Associate	33317029	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Myeloproliferative Diseases	Associate	21998214, 30726782, 32573691, 32694616, 35766510, 39337700	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Associate	21995386, 21998214, 22096241, 22238327, 22323480, 22343920, 22389253, 22968464, 22983749, 23300180, 23300182, 23335386, 24220272, 24723457, 24970933 View all (82 more)	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal Carcinoma	Associate	35562651	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	23793026, 29726589, 33722295	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	22150006, 22323480, 23313955, 23335386, 23485022, 23594796, 23778141, 23793026, 24302718, 24795046, 25326804, 25768983, 26095796, 26565915, 26742993 View all (55 more)	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms Second Primary	Associate	28076841	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Associate	28062854, 30194306, 30587503	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nevus Blue	Associate	28409567	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	33932092	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Associate	31945802	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	32143579	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	35061527	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Associate	27447873, 28185911, 31064751, 31945802	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prolactinoma	Associate	32427851	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	29641532	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Reproductive Tract Infections	Associate	34102999	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Associate	24970933, 25957392, 36588411	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ring Chromosomes	Associate	21995386, 21998214, 22096241, 22323480, 23300182, 23335386, 24970933, 25957392, 26508027, 26514544, 27211273, 30049194, 30587503, 32694616, 34861039, 34889424, 36028755 View all (2 more)	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Associate	37390276	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	31927557	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndrome	Associate	30049194	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Associate	27991718	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Associate	40342275	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Associate	23594705, 32694616	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uniparental Disomy	Associate	23793026	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	21672358, 32320410	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Associate	30963795	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Associate	23313955, 23694694, 23793026, 23861464, 23887304, 24423917, 26683228, 26769193, 26842708, 27123562, 27745836, 28618948, 28810145, 29327717, 30073324 View all (8 more)	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X linked sideroblastic anemia	Associate	23594705, 26255870	★★★★★ ★☆☆☆☆ Found in Text Mining only

SF3B1 (splicing factor 3b subunit 1)