AutismKB 2.0

Annotation Detail for ABCB6


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Basic Information Top
Gene Symbol:ABCB6 ( ABC,ABC14,EST45597,FLJ22414,MTABC3,PRP,umat )
Gene Full Name: ATP-binding cassette, sub-family B (MDR/TAP), member 6
Band: 2q35
Quick LinksEntrez ID:10058; OMIM: 605452; Uniprot ID:ABCB6_HUMAN; ENSEMBL ID: ENSG00000115657,ENSG00000198925; HGNC ID: 47
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
341Phosphothreonine(PKC)HMM predict
357Phosphoserine(CK1)HMM predict
447N-linkedHMM predict
476Phosphotyrosine(EGFR)HMM predict
498N-linkedHMM predict
502N-linkedHMM predict
655Phosphoserine(ATM)HMM predict
677N-linkedHMM predict
683N-linkedHMM predict
775N-linkedHMM predict
787Phosphothreonine(PKC)HMM predict
832Phosphoserine(CK2)HMM predict
832Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005689
  • Location:chr2 219782737-219791915
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb QuiescentGSE19898 219791975 219792248 273 196
p130 SenescentGSE19898 219791404 219792601 1197 87
p130 shRbSenescentGSE19898 219791595 219792557 962 161
p130 SGSE7516 219791297 219792581 1284 24
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 219784612 219784760 148 0
CTCF CD4SISSRdata 219784612 219784760 148 0
CTCF G2GSE9613 219787970 219788097 127 0
CTCF G2GSE9613 219791044 219791982 938 0
E2F4 G0GSE7516 219791153 219792476 1323 0
HIF1 HypoHepG2 219790631 219792476 1845 0
P300 T0-glioblastomaGSE21026 219790466 219791273 807 0
PHF8 HeLaGSE20725 219790858 219792704 1846 0
Rb GrowingGSE19898 219789557 219789736 179 0
Rb SenescentGSE19898 219790914 219792422 1508 0
TFAP2C MCF7GSE21234 219790692 219791355 663 0
hScc1 BcellGSE12603 219791044 219791914 870 0
hScc1 G2GSE9613 219791190 219791982 792 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