AutismKB 2.0

Annotation Detail for ABCB9


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Basic Information Top
Gene Symbol:ABCB9 ( EST122234,KIAA1520,TAPL,hABCB9 )
Gene Full Name: ATP-binding cassette, sub-family B (MDR/TAP), member 9
Band: 12q24.31
Quick LinksEntrez ID:23457; OMIM: 605453; Uniprot ID:ABCB9_HUMAN; ENSEMBL ID: ENSG00000150967; HGNC ID: 50
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
530Phosphoserine.
Location(AA) Modifications Resource
530Phosphoserine.Swiss-Prot 53.0
530PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
144Phosphothreonine(PKA)HMM predict
161O-linkedHMM predict
170O-linkedHMM predict
180Phosphotyrosine(INSR)HMM predict
271Phosphoserine(ATM)HMM predict
275Phosphoserine(CK2)HMM predict
280N-linkedHMM predict
301Phosphoserine(ATM)HMM predict
365Phosphoserine(PKG)HMM predict
373O-linkedHMM predict
464Phosphoserine(CK1)HMM predict
488Phosphothreonine(PKA)HMM predict
508N-linkedHMM predict
530Phosphoserine(CDC2)HMM predict
543Phosphoserine(ATM)HMM predict
703Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019624
  • Location:chr12 121979493-122016984
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 121967209 121967658 449 12060
NRSF pAbJurkat 121972365 121972657 292 6983
Oct4 hESGSE17917 121974294 121974533 239 5080
RARG MCF7GSE15244 121967819 121968648 829 11260
TFAP2C MCF7GSE21234 121967839 121968753 914 11198
hScc1 CdLSGSE12603 121974089 121974264 175 5317
No data
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-210 hsa-mir-210 11 19826008
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
6752 mRNA FLJ13491 chr12 121984233 121989468 315 mRNA ABCB9 chr12 121938426 121984632Sense/Antisense (SA) 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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