AutismKB 2.0

Annotation Detail for GABRA6


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Basic Information Top
Gene Symbol:GABRA6 ( MGC116903,MGC116904 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 6
Band: 5q34
Quick LinksEntrez ID:2559; OMIM: 137143; Uniprot ID:GBRA6_HUMAN; ENSEMBL ID: ENSG00000145863; HGNC ID: 4080
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
31N-linked (GlcNAc...) (Potential).
128N-linked (GlcNAc...) (Potential).
141N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
31N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
128N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
141N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
128N-linkedHMM predict
133N-linkedHMM predict
141N-linkedHMM predict
194Phosphotyrosine(INSR)HMM predict
203Phosphoserine(CK1)HMM predict
204Phosphoserine(CK1)HMM predict
258Phosphoserine(ATM)HMM predict
282O-linkedHMM predict
332Phosphothreonine(PKC)HMM predict
348O-linkedHMM predict
375Phosphothreonine(PKA)HMM predict
400O-linkedHMM predict
400O-linkedHMM predict
403Phosphothreonine(MAPK)HMM predict
403Phosphothreonine(CDK)HMM predict
408O-linkedHMM predict
408Phosphoserine(CDC2)HMM predict
414O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000811
  • Location:chr5 161045547-161061688
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 161035682 161036069 387 9672
hScc1 BcellGSE12603 161035670 161036032 362 9697
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog ESGSE20650 161072646 161073059 413 11164
Nanog hESGSE18292 161072732 161073200 468 11278
No data
Validated miRNA targets Top
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
21778 mRNA GABRA6 chr5 161045547 161061697 77 EST chr5 161046930 161048983Sense/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