AutismKB 2.0

Annotation Detail for CBFA2T2


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Basic Information Top
Gene Symbol:CBFA2T2 ( DKFZp313F2116,EHT,MTGR1,ZMYND3,p85 )
Gene Full Name: core-binding factor, runt domain, alpha subunit 2; translocated to, 2
Band: 20q11.21-q11.22
Quick LinksEntrez ID:9139; OMIM: 603672; Uniprot ID:MTG8R_HUMAN; ENSEMBL ID: ENSG00000078699; HGNC ID: 1536
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
33Phosphoserine.
Location(AA) Modifications Resource
33Phosphoserine.Swiss-Prot 53.0
33PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
44Phosphoserine(PKA)HMM predict
44Phosphoserine(CDC2)HMM predict
44Phosphoserine(IKK)HMM predict
44Phosphoserine(ATM)HMM predict
47O-linkedHMM predict
63Phosphoserine(IKK)HMM predict
65Phosphothreonine(MAPK)HMM predict
67O-linkedHMM predict
74N-linkedHMM predict
85Phosphoserine(CDK)HMM predict
85Phosphoserine(CDC2)HMM predict
96O-linkedHMM predict
98O-linkedHMM predict
99Phosphoserine(IKK)HMM predict
99O-linkedHMM predict
100O-linkedHMM predict
100Phosphoserine(IKK)HMM predict
134Phosphoserine(ATM)HMM predict
150N-linkedHMM predict
199Phosphothreonine(MAPK)HMM predict
213N-linkedHMM predict
237Phosphoserine(CDC2)HMM predict
264Phosphoserine(MAPK)HMM predict
264Phosphoserine(CDC2)HMM predict
270O-linkedHMM predict
287O-linkedHMM predict
305Phosphotyrosine(Abl)HMM predict
305Phosphotyrosine(INSR)HMM predict
368Phosphoserine(PKA)HMM predict
378Phosphoserine(CK2)HMM predict
409Phosphoserine(CAMK2)HMM predict
409Phosphoserine(IKK)HMM predict
417Phosphoserine(CK1)HMM predict
417Phosphoserine(IKK)HMM predict
418N-linkedHMM predict
420Phosphoserine(ATM)HMM predict
432Phosphotyrosine(Jak)HMM predict
473Phosphothreonine(PKC)HMM predict
567Phosphoserine(PKB)HMM predict
574Phosphoserine(ATM)HMM predict
583O-linkedHMM predict
587Phosphothreonine(PKC)HMM predict
587O-linkedHMM predict
588O-linkedHMM predict
588Phosphoserine(IKK)HMM predict
588O-linkedHMM predict
588O-linkedHMM predict
591O-linkedHMM predict
591O-linkedHMM predict
595O-linkedHMM predict
597O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001032999
  • Location:chr20 31541588-31701497
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 31534108 31534813 705 7128
Rb SenescentGSE19898 31541313 31541482 169 191
TFAP2C MCF7GSE21234 31528589 31529530 941 12529
TFAP2C MCF7GSE21234 31531389 31531938 549 9925
hScc1 BcellGSE12603 31527157 31527629 472 14196
p130 SenescentGSE19898 31540994 31541648 654 268
p130 shRbQuiescentGSE19898 31541008 31541525 517 322
p130 shRbSenescentGSE19898 31541122 31541480 358 288
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 31613562 31613946 384 0
H3ac HepG2E 31542140 31543149 1009 0
H3ac HepG2E 31582578 31583187 609 0
P300 T30-glioblastomaGSE21026 31606094 31607481 1387 0
PHF8 293TGSE20725 31541006 31542423 1417 0
PHF8 HeLaGSE20725 31540981 31542278 1297 0
PHF8 Hs68minusFBSGSE20725 31540838 31542340 1502 0
PHF8 Hs68plusFBSGSE20725 31540743 31542619 1876 0
Rb SenescentGSE19898 31541781 31542044 263 0
Stat6 IL-4-hr4GSE17850 31558857 31559453 596 0
hScc1 BcellGSE12603 31541352 31542140 788 0
p130 SenescentGSE19898 31613573 31614065 492 0
Validated miRNA targets Top
Cis-Nats regulation Top

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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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