AutismKB 2.0

Annotation Detail for GABRA5


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Basic Information Top
Gene Symbol:GABRA5 ( MGC138184 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 5
Band: 15q12
Quick LinksEntrez ID:2558; OMIM: 137142; Uniprot ID:GBRA5_HUMAN; ENSEMBL ID: ENSG00000186297; HGNC ID: 4079
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
45N-linked (GlcNAc...) (Potential).
145N-linked (GlcNAc...) (Potential).
207N-linked (GlcNAc...) (Potential).
236N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
45N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
145N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
207N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
236N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
23N-linkedHMM predict
45N-linkedHMM predict
145N-linkedHMM predict
150N-linkedHMM predict
203Phosphotyrosine(SRC)HMM predict
207N-linkedHMM predict
244Phosphotyrosine(SRC)HMM predict
245O-linkedHMM predict
275Phosphoserine(ATM)HMM predict
299O-linkedHMM predict
310Phosphoserine(PKG)HMM predict
393PhosphothreonineHMM predict
393Phosphothreonine(MAPK)HMM predict
398Phosphoserine(IKK)HMM predict
399N-linkedHMM predict
400O-linkedHMM predict
401O-linkedHMM predict
402O-linkedHMM predict
412Phosphothreonine(CK2)HMM predict
413O-linkedHMM predict
419Phosphotyrosine(INSR)HMM predict
447ThreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000810
  • Location:chr15 24663150-24776748
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 24660931 24661242 311 2064
hScc1 BcellGSE12603 24660931 24661214 283 2078
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 24782982 24783009 27 6247
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 24663253 24664110 857 0
ER E2-MCF7GSE14664 24731250 24731306 56 0
Oct1 H2O2-HelaGSE14283 24744178 24744221 43 0
Oct1 HelaGSE14283 24744179 24744221 42 0
Oct4 hESGSE21916 24664440 24665105 665 0
TAF HelaGSE8489 24759485 24759778 293 0
hScc1 BcellGSE12603 24663253 24664326 1073 0
hScc1 BcellGSE12603 24757332 24757650 318 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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