AutismKB 2.0

Annotation Detail for ABCA6


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Basic Information Top
Gene Symbol:ABCA6 ( EST155051,FLJ43498 )
Gene Full Name: ATP-binding cassette, sub-family A (ABC1), member 6
Band: 17q24.2-q24.3
Quick LinksEntrez ID:23460; OMIM: 612504; Uniprot ID:ABCA6_HUMAN; ENSEMBL ID: ENSG00000154262; HGNC ID: 36
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
84N-linked (GlcNAc...) (Potential).
109N-linked (GlcNAc...) (Potential).
940N-linked (GlcNAc...).
Location(AA) Modifications Resource
84N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
109N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
9Phosphotyrosine(EGFR)HMM predict
71N-linkedHMM predict
84N-linkedHMM predict
91N-linkedHMM predict
109N-linkedHMM predict
130N-linkedHMM predict
145Phosphoserine(CDC2)HMM predict
201Phosphoserine(CK1)HMM predict
241N-linkedHMM predict
249Phosphoserine(PKG)HMM predict
249Phosphoserine(IKK)HMM predict
436N-linkedHMM predict
464SulfotyrosineHMM predict
558Phosphothreonine(PKA)HMM predict
809Phosphoserine(IKK)HMM predict
821Phosphoserine(CK1)HMM predict
821O-linkedHMM predict
852Phosphothreonine(PKA)HMM predict
911N-linkedHMM predict
912N-linkedHMM predict
916N-linkedHMM predict
940N-linkedHMM predict
990N-linkedHMM predict
1028Phosphoserine(CDC2)HMM predict
1127Phosphoserine(PKG)HMM predict
1182Phosphotyrosine(Syk)HMM predict
1182Phosphotyrosine(EGFR)HMM predict
1235Phosphoserine(CDK)HMM predict
1235Phosphoserine(CDC2)HMM predict
1257Phosphothreonine(PKC)HMM predict
1286Phosphotyrosine(Syk)HMM predict
1358Phosphotyrosine(Jak)HMM predict
1575SulfotyrosineHMM predict
1578Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_080284
  • Location:chr17 64586441-64649609
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
KLF4 hESGSE17917 64611180 64611476 296 0
Oct1 H2O2-HelaGSE14283 64613318 64613346 28 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


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