AutismKB 2.0

Annotation Detail for BCAT1


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Basic Information Top
Gene Symbol:BCAT1 ( BCATC,BCT1,DKFZp686E12175,ECA39,MECA39,PNAS121,PP18 )
Gene Full Name: branched chain amino-acid transaminase 1, cytosolic
Band: 12p12.1
Quick LinksEntrez ID:586; OMIM: 113520; Uniprot ID:BCAT1_HUMAN; ENSEMBL ID: ENSG00000060982; HGNC ID: 976
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
222N6-(pyridoxal phosphate)lysine (By
Location(AA) Modifications Resource
Location(AA) Modification Resource
78N-linkedHMM predict
156Phosphothreonine(PKC)HMM predict
179Phosphothreonine(PKA)HMM predict
188Phosphoserine(CDC2)HMM predict
195O-linkedHMM predict
312Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005504
  • Location:chr12 24855547-24993498
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 25004543 25004690 147 11118
CTCF CD4SISSRdata 25004543 25004690 147 11118
CTCF HelaGSE12889 25004514 25004728 214 11123
CTCF JurkatGSE12889 25004398 25004718 320 11060
CTCF G2GSE9613 24993949 24994164 215 558
CTCF G2GSE9613 25011519 25011704 185 18113
Jun K562GSE19551 25004425 25004864 439 11146
NFkBII GM12878GSE19485 24998972 25000371 1399 6173
NRSF pAbJurkat 25011460 25011704 244 18084
Pol2 GM12878GSE19551 24995639 24996758 1119 2700
p130 QuiescentGSE19898 24993675 24993800 125 239
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 24846189 24846694 505 9106
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 24880685 24880948 263 0
CTCF CD4SISSRdata 24880685 24880948 263 0
CTCF G2GSE9613 24880373 24880952 579 0
CTCF G2GSE9613 24893252 24893554 302 0
CTCF G2GSE9613 24947042 24947394 352 0
CTCF G2GSE9613 24992937 24993485 548 0
FOXA1 DLD1GSE12801 24925347 24926190 843 0
FOXA1 MCF7GSE15244 24981208 24981421 213 0
H3ac HepG2E 24991320 24992047 727 0
H3ac HepG2E 24992583 24993313 730 0
NFkBII GM12878GSE19485 24882089 24885254 3165 0
Oct1 HelaGSE14283 24869047 24869093 46 0
P300 T0-glioblastomaGSE21026 24955333 24956119 786 0
P300 T30-glioblastomaGSE21026 24955298 24956204 906 0
RARG MCF7GSE15244 24981208 24981421 213 0
TAF k562GSE8489 24990933 24995047 4114 0
TFAP2C MCF7GSE21234 24991071 24991650 579 0
hScc1 BcellGSE12603 24880260 24880952 692 0
hScc1 BcellGSE12603 24946314 24946686 372 0
hScc1 BcellGSE12603 24992974 24993520 546 0
hScc1 CdLSGSE12603 24880337 24880952 615 0
hScc1 CdLSGSE12603 24882749 24883831 1082 0
hScc1 CdLSGSE12603 24992513 24993629 1116 0
hScc1 G2GSE9613 24880511 24880916 405 0
p130 SenescentGSE19898 24946814 24947095 281 0
p130 SenescentGSE19898 24992652 24993813 1161 0
p130 shRbQuiescentGSE19898 24992598 24993697 1099 0
p63 keratinocytesGSE17611 24908383 24909016 633 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