AutismKB 2.0

Annotation Detail for SF3B2


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Basic Information Top
Gene Symbol:SF3B2 ( Cus1,SAP145,SF3B145,SF3b1,SF3b150 )
Gene Full Name: splicing factor 3b, subunit 2, 145kDa
Band: 11q13.1
Quick LinksEntrez ID:10992; OMIM: 605591; Uniprot ID:SF3B2_HUMAN; ENSEMBL ID: ENSG00000087365; HGNC ID: 10769
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
201Phosphothreonine.
217Phosphothreonine.
275N6-acetyllysine.
289Phosphoserine.
307Phosphoserine.
309Phosphoserine.
311Phosphothreonine.
343Phosphoserine.
360Phosphoserine.
362Phosphoserine.
416Phosphoserine.
431Phosphoserine.
435Phosphoserine.
436Phosphoserine.
778Phosphoserine.
780Phosphothreonine.
Location(AA) Modifications Resource
280PhosphoserinePhospho.ELM 6.0
284Phosphoserine.Swiss-Prot 53.0
284PhosphoserinePhospho.ELM 6.0
286PhosphoserinePhospho.ELM 6.0
286Phosphoserine.Swiss-Prot 53.0
339Phosphoserine.Swiss-Prot 53.0
393Phosphoserine.Swiss-Prot 53.0
408Phosphoserine.Swiss-Prot 53.0
412Phosphoserine.Swiss-Prot 53.0
413Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
38Phosphothreonine(PKA)HMM predict
61O-linkedHMM predict
210Phosphothreonine(MAPK)HMM predict
222MethylarginineHMM predict
266Phosphoserine(ATM)HMM predict
279Phosphoserine(CK1)HMM predict
284Phosphoserine(IKK)HMM predict
324Phosphoserine(CK1)HMM predict
337Phosphoserine(CK2)HMM predict
339Phosphoserine(IKK)HMM predict
348SulfotyrosineHMM predict
356Phosphotyrosine(Syk)HMM predict
408Phosphoserine(CK2)HMM predict
412Phosphoserine(CK2)HMM predict
412Phosphoserine(CK1)HMM predict
413Phosphoserine(CK2)HMM predict
413Phosphoserine(CK1)HMM predict
525Phosphothreonine(PKC)HMM predict
557Phosphothreonine(PKC)HMM predict
569SulfotyrosineHMM predict
632Phosphoserine(CDC2)HMM predict
675Phosphothreonine(CK2)HMM predict
691Phosphoserine(CK1)HMM predict
691Phosphoserine(CK2)HMM predict
691Phosphoserine(ATM)HMM predict
695Phosphoserine(CK2)HMM predict
695Phosphoserine(CK1)HMM predict
696Phosphoserine(CK1)HMM predict
696Phosphoserine(CK2)HMM predict
704Phosphoserine(CK2)HMM predict
704Phosphoserine(ATM)HMM predict
704Phosphoserine(CK1)HMM predict
757Phosphothreonine(MAPK)HMM predict
864Phosphoserine(PKC)HMM predict
867Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006842
  • Location:chr11 65576391-65592957
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 65575503 65576988 1485 146
Fos K562GSE19551 65575886 65576620 734 139
H3ac HepG2E 65575092 65575841 749 925
PHF8 293TGSE20725 65575592 65576945 1353 123
PHF8 HeLaGSE20725 65575537 65577166 1629 40
TFAP2C MCF7GSE21234 65575805 65576587 782 196
p130 QuiescentGSE19898 65575693 65575897 204 597
p130 SenescentGSE19898 65575919 65576273 354 296
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 65593362 65593694 332 571
p130 shRbQuiescentGSE19898 65593208 65593704 496 499
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 65592267 65592552 285 0
CTCF CD4SISSRdata 65592267 65592552 285 0
GABP HelaGSE8489 65576630 65577322 692 0
GABP k562GSE8489 65576368 65577418 1050 0
H3ac HepG2E 65576516 65577418 902 0
H3ac HepG2E 65578557 65578858 301 0
NRSF pAbJurkat 65576302 65576516 214 0
P300 T30-glioblastomaGSE21026 65575609 65577359 1750 0
PHF8 Hs68plusFBSGSE20725 65575527 65577448 1921 0
Rb QuiescentGSE19898 65576199 65576755 556 0
Rb SenescentGSE19898 65576139 65576671 532 0
Rb shRbQuiescentGSE19898 65576347 65576613 266 0
Rb shRbQuiescentGSE19898 65589281 65589553 272 0
TAF HelaGSE8489 65576588 65577322 734 0
TAF k562GSE8489 65576516 65577418 902 0
hScc1 BcellGSE12603 65592470 65592988 518 0
p130 QuiescentGSE19898 65576170 65576879 709 0
p130 SenescentGSE19898 65576294 65576629 335 0
p130 shRbQuiescentGSE19898 65576301 65576986 685 0
p130 shRbSenescentGSE19898 65576262 65576996 734 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
4733 mRNA SF3B2 chr11 65576391 65592958 1635 EST chr11 65591323 65593646 Non-exonic Bidirectional (NOB) pairs

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