AutismKB 2.0

Annotation Detail for SF3B1


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Basic Information Top
Gene Symbol:SF3B1 ( Hsh155,PRP10,PRPF10,SAP155,SF3b155 )
Gene Full Name: splicing factor 3b, subunit 1, 155kDa
Band: 2q33.1
Quick LinksEntrez ID:23451; OMIM: 605590; Uniprot ID:SF3B1_HUMAN; ENSEMBL ID: ENSG00000115524; HGNC ID: 10768
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
129Phosphoserine.
141N6-acetyllysine.
142Phosphothreonine.
194Phosphoserine.
207Phosphothreonine.
211Phosphothreonine.
223Phosphothreonine.
227Phosphothreonine.
235Phosphothreonine.
244Phosphothreonine.
248Phosphothreonine (Probable).
257Phosphothreonine.
261Phosphothreonine.
267Phosphothreonine.
273Phosphothreonine.
278Phosphothreonine (By similarity).
296Phosphothreonine.
299Phosphothreonine.
313Phosphothreonine (Probable).
316Phosphothreonine.
322Phosphoserine.
326Phosphothreonine.
328Phosphothreonine.
332Phosphoserine.
341Phosphothreonine.
344Phosphoserine.
349Phosphoserine.
350Phosphothreonine.
354Phosphothreonine.
400Phosphoserine.
432Phosphothreonine.
434Phosphothreonine.
436Phosphothreonine.
488Phosphoserine.
554N6-acetyllysine.
562N6-acetyllysine.
Location(AA) Modifications Resource
129PhosphoserinePhospho.ELM 6.0
142Phosphothreonine (By similarity).Swiss-Prot 53.0
207Phosphothreonine.Swiss-Prot 53.0
207PhosphothreoninePhospho.ELM 6.0
211Phosphothreonine.Swiss-Prot 53.0
211PhosphothreoninePhospho.ELM 6.0
217PhosphoserinePhospho.ELM 6.0
223PhosphothreoninePhospho.ELM 6.0
223Phosphothreonine.Swiss-Prot 53.0
227PhosphothreoninePhospho.ELM 6.0
227Phosphothreonine (By similarity).Swiss-Prot 53.0
235PhosphothreoninePhospho.ELM 6.0
244Phosphothreonine (CDK2)Phospho.ELM 6.0
244Phosphothreonine (Probable).Swiss-Prot 53.0
248Phosphothreonine (Probable).Swiss-Prot 53.0
248Phosphothreonine (CDK2)Phospho.ELM 6.0
267Phosphothreonine (By similarity).Swiss-Prot 53.0
296Phosphothreonine.Swiss-Prot 53.0
296PhosphothreoninePhospho.ELM 6.0
299PhosphothreoninePhospho.ELM 6.0
299Phosphothreonine.Swiss-Prot 53.0
303PhosphothreoninePhospho.ELM 6.0
313Phosphothreonine (CDK2)Phospho.ELM 6.0
313Phosphothreonine (Probable).Swiss-Prot 53.0
316PhosphothreoninePhospho.ELM 6.0
316Phosphothreonine.Swiss-Prot 53.0
326PhosphothreoninePhospho.ELM 6.0
326Phosphothreonine.Swiss-Prot 53.0
328Phosphothreonine.Swiss-Prot 53.0
344PhosphoserinePhospho.ELM 6.0
344Phosphoserine.Swiss-Prot 53.0
349PhosphoserinePhospho.ELM 6.0
350Phosphothreonine.Swiss-Prot 53.0
350PhosphothreoninePhospho.ELM 6.0
354Phosphothreonine.Swiss-Prot 53.0
354PhosphothreoninePhospho.ELM 6.0
434PhosphothreoninePhospho.ELM 6.0
436PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
38Phosphotyrosine(Syk)HMM predict
39SulfotyrosineHMM predict
70Phosphotyrosine(Syk)HMM predict
70Phosphotyrosine(Jak)HMM predict
70Phosphotyrosine(EGFR)HMM predict
70SulfotyrosineHMM predict
70Phosphotyrosine(INSR)HMM predict
71Phosphoserine(CK1)HMM predict
75Phosphoserine(IKK)HMM predict
75Phosphoserine(CK1)HMM predict
101Phosphotyrosine(Syk)HMM predict
101SulfotyrosineHMM predict
101Phosphotyrosine(SRC)HMM predict
119Phosphotyrosine(Jak)HMM predict
119Phosphotyrosine(EGFR)HMM predict
125Phosphothreonine(PKA)HMM predict
142PhosphothreonineHMM predict
142Phosphothreonine(CDC2)HMM predict
142Phosphothreonine(MAPK)HMM predict
190Phosphoserine(ATM)HMM predict
207Phosphothreonine(MAPK)HMM predict
211Phosphothreonine(MAPK)HMM predict
223Phosphothreonine(CDK)HMM predict
223Phosphothreonine(MAPK)HMM predict
227Phosphothreonine(CDK)HMM predict
227Phosphothreonine(MAPK)HMM predict
235Phosphothreonine(CDC2)HMM predict
242O-linkedHMM predict
244Phosphothreonine(MAPK)HMM predict
248Phosphothreonine(MAPK)HMM predict
251O-linkedHMM predict
257Phosphothreonine(CDC2)HMM predict
257Phosphothreonine(CDK)HMM predict
257Phosphothreonine(MAPK)HMM predict
259Phosphoserine(MAPK)HMM predict
261O-linkedHMM predict
267Phosphothreonine(MAPK)HMM predict
267Phosphothreonine(CDC2)HMM predict
273Phosphothreonine(MAPK)HMM predict
278Phosphothreonine(MAPK)HMM predict
303Phosphothreonine(MAPK)HMM predict
313Phosphothreonine(CDK)HMM predict
313Phosphothreonine(CDC2)HMM predict
328Phosphothreonine(MAPK)HMM predict
354Phosphothreonine(MAPK)HMM predict
354Phosphothreonine(CDK)HMM predict
358O-linkedHMM predict
371Phosphothreonine(MAPK)HMM predict
400Phosphoserine(CK2)HMM predict
426Phosphothreonine(CDK)HMM predict
426Phosphothreonine(MAPK)HMM predict
432O-linkedHMM predict
434Phosphothreonine(MAPK)HMM predict
436Phosphothreonine(CDK)HMM predict
436Phosphothreonine(MAPK)HMM predict
488Phosphoserine(MAPK)HMM predict
488Phosphoserine(CDC2)HMM predict
488Phosphoserine(IKK)HMM predict
488Phosphoserine(CK1)HMM predict
506N-linkedHMM predict
508Phosphothreonine(CDC2)HMM predict
541Phosphoserine(MAPK)HMM predict
588Phosphotyrosine(Syk)HMM predict
588Phosphotyrosine(EGFR)HMM predict
626N-linkedHMM predict
779Phosphoserine(CK2)HMM predict
805Phosphotyrosine(EGFR)HMM predict
905Phosphothreonine(CK2)HMM predict
1010Phosphothreonine(PKA)HMM predict
1187Phosphothreonine(PKA)HMM predict
1288SulfotyrosineHMM predict
1295Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001005526
  • Location:chr2 197991767-198008015
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me2 HCT116GSE10453 198007893 198009279 1386 571
NFkBII GM15510GSE19485 198007327 198009367 2040 332
P300 T30-glioblastomaGSE21026 198007417 198008916 1499 151
PHF8 293TGSE20725 198007365 198008781 1416 58
PHF8 Hs68minusFBSGSE20725 198007460 198008684 1224 57
TFAP2C MCF7GSE21234 198007836 198008554 718 180
USF2 HepG2E 198006800 198009279 2479 24
p130 SenescentGSE19898 198007793 198008424 631 93
p130 shRbQuiescentGSE19898 198007559 198008482 923 5
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 198007711 198008151 440 0
GABP k562GSE8489 198005865 198008151 2286 0
H3K4me2 HCT116GSE10453 198006591 198007413 822 0
H3K4me3 colorectalcancer 198005865 198009201 3336 0
H3ac HepG2E 198005865 198009279 3414 0
HIF1 NormHepG2 198007675 198008259 584 0
NFkBII GM10847GSE19485 198006625 198009273 2648 0
NFkBII GM12878GSE19485 198006345 198009201 2856 0
PHF8 Hs68plusFBSGSE20725 198007182 198008837 1655 0
TAF HelaGSE8489 198006518 198008151 1633 0
TAF k562GSE8489 198005865 198009232 3367 0
USF1 HepG2E 198006660 198009279 2619 0
p130 QuiescentGSE19898 198007602 198008171 569 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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