AutismKB 2.0

Annotation Detail for ABCB1


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Basic Information Top
Gene Symbol:ABCB1 ( ABC20,CD243,CLCS,GP170,MDR1,MGC163296,P-GP,PGY1 )
Gene Full Name: ATP-binding cassette, sub-family B (MDR/TAP), member 1
Band: 7q21.12
Quick LinksEntrez ID:5243; OMIM: 171050; Uniprot ID:MDR1_HUMAN; ENSEMBL ID: ENSG00000085563; HGNC ID: 40
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
91N-linked (GlcNAc...) (Potential).
94N-linked (GlcNAc...) (Potential).
99N-linked (GlcNAc...) (Potential).
660Phosphoserine (By similarity).
Location(AA) Modifications Resource
91N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
94N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
99N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
661Phosphoserine (PKC
667Phosphoserine (PKA
671Phosphoserine (PKC
683Phosphoserine (PKA
Location(AA) Modification Resource
91N-linkedHMM predict
94N-linkedHMM predict
99N-linkedHMM predict
379Phosphoserine(CK1)HMM predict
452Phosphoserine(CAMK2)HMM predict
494N-linkedHMM predict
563Phosphothreonine(CK2)HMM predict
591Phosphothreonine(PKC)HMM predict
644Phosphoserine(CK2)HMM predict
654Phosphoserine(CK1)HMM predict
656N-linkedHMM predict
661Phosphoserine(PKC)HMM predict
661Phosphoserine(CK1)HMM predict
668Phosphothreonine(PKC)HMM predict
668Phosphothreonine(PKA)HMM predict
671Phosphoserine(PKC)HMM predict
675Phosphoserine(ATM)HMM predict
675Phosphoserine(IKK)HMM predict
683Phosphoserine(PKG)HMM predict
684Phosphothreonine(PKG)HMM predict
684Phosphothreonine(PKC)HMM predict
704N-linkedHMM predict
809N-linkedHMM predict
810Phosphothreonine(PKC)HMM predict
920Phosphotyrosine(Abl)HMM predict
941O-linkedHMM predict
1034N-linkedHMM predict
1117Phosphoserine(ATM)HMM predict
1208Phosphothreonine(CK2)HMM predict
1267Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000927
  • Location:chr7 86970883-87180499
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 87037195 87038030 835 0
CTCF CD4GSE12889 87031591 87031770 179 0
CTCF CD4SISSRdata 87031591 87031770 179 0
CTCF G2GSE9613 86973525 86973858 333 0
CTCF G2GSE9613 86974717 86975035 318 0
CTCF G2GSE9613 87006128 87006508 380 0
CTCF G2GSE9613 87057735 87057880 145 0
Fos K562GSE19551 87041734 87042235 501 0
H3K4me3 colorectalcancer 87067168 87067388 220 0
Oct1 H2O2-HelaGSE14283 87079063 87079099 36 0
Oct1 HelaGSE14283 87079064 87079099 35 0
Oct4 ESGSE20650 86998027 86998118 91 0
P300 T0-glioblastomaGSE21026 87037207 87038250 1043 0
P300 T30-glioblastomaGSE21026 87037211 87038131 920 0
Stat6 IL-4-hr1GSE17850 87094955 87095673 718 0
TAF HelaGSE8489 87013841 87014235 394 0
USF1 HepG2E 87002905 87003154 249 0
USF1 HepG2E 87015645 87016295 650 0
USF2 HepG2E 87015645 87016259 614 0
hScc1 BcellGSE12603 86973525 86973858 333 0
hScc1 G2GSE9613 86973490 86974160 670 0
hScc1 G2GSE9613 86974717 86975035 318 0
p130 QuiescentGSE19898 87095327 87095678 351 0
p130 SenescentGSE19898 87095356 87095642 286 0
p130 shRbQuiescentGSE19898 87095282 87095698 416 0
p130 shRbSenescentGSE19898 87095337 87095620 283 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-27a hsa-mir-27a 19 18619946
hsa-miR-27a hsa-mir-27a 19 20624637
hsa-miR-27a* hsa-mir-27a 19 18619946
hsa-miR-27a* hsa-mir-27a 19 20624637
hsa-miR-451 hsa-mir-451 17 18619946
No data
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
24267 mRNA RPIB9 chr7 86902379 87104406 84836 mRNA ABCB1 chr7 86777598 86987215 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


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