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

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acute myeloid leukemia	Likely pathogenic	rs377023736	RCV000420231
Myelodysplastic syndrome	Likely pathogenic; Pathogenic	rs377023736	RCV000431140 RCV005252885
Myelodysplastic syndrome progressed to acute myeloid leukemia	Likely pathogenic; Pathogenic	rs377023736	RCV000203465
See cases	Likely pathogenic	rs1057519961	RCV004584382

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acral lentiginous melanoma	-	rs775623976	RCV006254435
Cervical cancer	Likely benign	rs3764989	RCV005938908
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	rs3764989	RCV005938919
Chronic myelogenous leukemia, BCR-ABL1 positive	Conflicting classifications of pathogenicity	rs559063155	RCV002291501
Familial cancer of breast	Likely benign	rs3764989	RCV005938904
Familial pancreatic carcinoma	Likely benign	rs3764989	RCV005938910
Gastric cancer	Likely benign	rs3764989	RCV005938912
Germ cell tumor of testis	Likely benign	rs3764989	RCV005938916
Lung cancer	Likely benign	rs3764989	RCV005938917
Lymphoma	Likely benign	rs3764989	RCV005938913
Malignant tumor of esophagus	Likely benign	rs3764989	RCV005938906
Neoplasm	Conflicting classifications of pathogenicity; -	rs559063155, rs775623976	RCV005230291 RCV005231536
Neurodevelopmental disorder	Uncertain significance	rs760147216	RCV004586491
Nonpapillary renal cell carcinoma	Likely benign	rs3764989	RCV005938907
Ovarian cancer	Likely benign	rs3764989	RCV005938909
Ovarian serous cystadenocarcinoma	Likely benign	rs3764989	RCV005938914
Sarcoma	Likely benign	rs3764989	RCV005938911
SF3B1-related disorder	Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	rs788018, rs4685, rs788023, rs2469932160, rs34532346, rs13012433, rs199700456, rs202052494, rs3764989, rs559063155, rs35493573, rs71422649	RCV003980782 RCV003975807 RCV003976184 RCV003420919 RCV003911974 RCV003912190 RCV003924556 RCV003924742 RCV003932271 RCV003401412 RCV003930764 RCV003923122
Uterine carcinosarcoma	Likely benign	rs3764989	RCV005938915
Uterine corpus endometrial carcinoma	Likely benign	rs3764989	RCV005938918

Show/Hide Text Mining Associations (92)

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

SF3B1 (splicing factor 3b subunit 1)