AutismKB 2.0

Annotation Detail for GABRA4


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Basic Information Top
Gene Symbol:GABRA4 ( - )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 4
Band: 4p12
Quick LinksEntrez ID:2557; OMIM: 137141; Uniprot ID:GBRA4_HUMAN; ENSEMBL ID: ENSG00000109158; HGNC ID: 4078
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
47N-linked (GlcNAc...) (Potential).
140Phosphoserine.
142Phosphoserine.
144N-linked (GlcNAc...) (Potential).
157N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
47N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
144N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
157N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
25S-palmitoylHMM predict
47N-linkedHMM predict
144N-linkedHMM predict
149N-linkedHMM predict
157N-linkedHMM predict
202Phosphotyrosine(SRC)HMM predict
219Phosphoserine(CK1)HMM predict
220Phosphoserine(CK1)HMM predict
243Phosphotyrosine(Jak)HMM predict
274Phosphoserine(ATM)HMM predict
298O-linkedHMM predict
355Phosphothreonine(PKC)HMM predict
356Phosphoserine(PKA)HMM predict
356Phosphoserine(PKG)HMM predict
390Phosphothreonine(PKA)HMM predict
402N-linkedHMM predict
408N-linkedHMM predict
413Phosphoserine(CK1)HMM predict
446O-linkedHMM predict
453O-linkedHMM predict
453O-linkedHMM predict
455Phosphoserine(CDC2)HMM predict
455Phosphoserine(CDK)HMM predict
458O-linkedHMM predict
469Phosphoserine(PKG)HMM predict
500Phosphoserine(PKG)HMM predict
502PhosphothreonineHMM predict
502Phosphothreonine(MAPK)HMM predict
502O-linkedHMM predict
502O-linkedHMM predict
506O-linkedHMM predict
511O-linkedHMM predict
511O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000809
  • Location:chr4 46615675-46690336
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 46693468 46693500 32 3148
ER E2-MCF7GSE14664 46705130 46705161 31 14809
ER Fulvestrant-MCF7GSE14664 46693468 46693500 32 3148
H3K27me3 colorectalcancer 46690798 46691758 960 942
Oct1 H2O2-HelaGSE14283 46691375 46691407 32 1055
Oct1 HelaGSE14283 46691363 46691430 67 1060
hScc1 BcellGSE12603 46690570 46691012 442 455
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 46612968 46613009 41 2687
ER E2-MCF7GSE14664 46614529 46614561 32 1131
Oct1 H2O2-HelaGSE14283 46612968 46613010 42 2687
Oct1 HelaGSE14283 46612968 46613009 41 2687
Oct1 HelaGSE14283 46614531 46614561 30 1130
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 46628638 46629170 532 0
CTCF G2GSE9613 46647110 46647295 185 0
CTCF G2GSE9613 46689934 46690439 505 0
ER Fulvestrant-MCF7GSE14664 46653976 46654024 48 0
H3K27me3 colorectalcancer 46688950 46689852 902 0
Oct1 H2O2-HelaGSE14283 46620713 46620742 29 0
Oct1 H2O2-HelaGSE14283 46659655 46659684 29 0
Oct1 HelaGSE14283 46653981 46654022 41 0
Oct1 HelaGSE14283 46659646 46659684 38 0
Oct1 HelaGSE14283 46659807 46659834 27 0
hScc1 BcellGSE12603 46628706 46629170 464 0
hScc1 CdLSGSE12603 46628638 46629170 532 0
hScc1 G2GSE9613 46628638 46629170 532 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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