AutismKB 2.0

Annotation Detail for ABCB8


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Basic Information Top
Gene Symbol:ABCB8 ( EST328128,M-ABC1,MABC1 )
Gene Full Name: ATP-binding cassette, sub-family B (MDR/TAP), member 8
Band: 7q36.1
Quick LinksEntrez ID:11194; OMIM: 605464; Uniprot ID:ABCB8_HUMAN; ENSEMBL ID: ENSG00000197150; HGNC ID: 49
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
50Phosphotyrosine(INSR)HMM predict
54Phosphotyrosine(INSR)HMM predict
122O-linkedHMM predict
123O-linkedHMM predict
123O-linkedHMM predict
191Phosphoserine(ATM)HMM predict
246N-linkedHMM predict
320Phosphoserine(PKG)HMM predict
420Phosphothreonine(PKC)HMM predict
515Phosphothreonine(PKC)HMM predict
577PhosphoserineHMM predict
582Phosphotyrosine(SRC)HMM predict
582Phosphotyrosine(Syk)HMM predict
601Phosphotyrosine(Abl)HMM predict
672Phosphothreonine(PKC)HMM predict
703Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_007188
  • Location:chr7 150356469-150373584
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 Hs68minusFBSGSE20725 150355792 150357077 1285 35
Rb GrowingGSE19898 150356401 150356528 127 5
Rb QuiescentGSE19898 150356328 150356539 211 36
TFAP2C MCF7GSE21234 150355134 150357017 1883 394
p130 SenescentGSE19898 150355972 150356960 988 4
p130 shRbSenescentGSE19898 150355982 150356950 968 4
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 150373671 150374063 392 283
CTCF G2GSE9613 150374673 150375304 631 1404
TFAP2C MCF7GSE21234 150374479 150375653 1174 1482
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 150366917 150367963 1046 0
CTCF CD4GSE12889 150356620 150356922 302 0
CTCF CD4SISSRdata 150356620 150356922 302 0
CTCF G2GSE9613 150356606 150357020 414 0
CTCF G2GSE9613 150361154 150361949 795 0
CTCF G2GSE9613 150364383 150364879 496 0
CTCF G2GSE9613 150367367 150367510 143 0
CTCF G2GSE9613 150368057 150368678 621 0
CTCF G2GSE9613 150371187 150372211 1024 0
ETS1 JurkatGSE17954 150355848 150357114 1266 0
NRSF mAbJurkat 150372211 150372479 268 0
P300 T0-glioblastomaGSE21026 150367179 150367741 562 0
P300 T30-glioblastomaGSE21026 150366980 150368069 1089 0
Rb GrowingGSE19898 150356615 150356785 170 0
TFAP2C MCF7GSE21234 150371017 150371565 548 0
hScc1 CdLSGSE12603 150356797 150357020 223 0
p130 QuiescentGSE19898 150355946 150357061 1115 0
p130 shRbQuiescentGSE19898 150355916 150357054 1138 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