AutismKB 2.0

Annotation Detail for GABRA1


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Basic Information Top
Gene Symbol:GABRA1 ( ECA4,EJM,EJM5 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, alpha 1
Band: 5q34
Quick LinksEntrez ID:2554; OMIM: 137160; Uniprot ID:GBRA1_HUMAN; ENSEMBL ID: ENSG00000022355; HGNC ID: 4075
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
38N-linked (GlcNAc...) (Potential).
138N-linked (GlcNAc...) (Potential).
368Phosphotyrosine (By similarity).
375Phosphotyrosine (By similarity).
Location(AA) Modifications Resource
38N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
138N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
375Phosphotyrosine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
26Phosphotyrosine(Abl)HMM predict
38N-linkedHMM predict
66Phosphothreonine(PKC)HMM predict
138N-linkedHMM predict
143N-linkedHMM predict
161Phosphothreonine(PKC)HMM predict
196Phosphotyrosine(SRC)HMM predict
237Phosphotyrosine(SRC)HMM predict
237Phosphotyrosine(INSR)HMM predict
237Phosphotyrosine(Jak)HMM predict
268Phosphoserine(ATM)HMM predict
292O-linkedHMM predict
303Phosphoserine(PKG)HMM predict
365N-linkedHMM predict
366N-linkedHMM predict
368Phosphotyrosine(INSR)HMM predict
373O-linkedHMM predict
376Phosphothreonine(CDK)HMM predict
394Phosphothreonine(PKC)HMM predict
441ThreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000806
  • Location:chr5 161206982-161258989
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 161206211 161206985 774 385
NRSF JurkatSISSRdata 161206446 161206782 336 369
NRSF mAbJurkat 161205369 161205763 394 1417
NRSF-mono JurkatQuESTdata 161206235 161206903 668 414
NRSF pAbJurkat 161206163 161207718 1555 42
NRSF-poly JurkatQuESTdata 161206317 161206893 576 378
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF JurkatGSE12889 161211387 161211537 150 0
H3K27me3 colorectalcancer 161206466 161207860 1394 0
NRSF JurkatGSE13047 161249515 161250043 528 0
NRSF mAbJurkat 161206023 161210436 4413 0
NRSF mAbJurkat 161248726 161249810 1084 0
NRSF-mono JurkatQuESTdata 161249514 161249961 447 0
NRSF-poly JurkatQuESTdata 161249515 161249875 360 0
Nanog hESGSE18292 161250438 161250900 462 0
Oct4 ESGSE20650 161250383 161250786 403 0
Oct4 hESGSE17917 161207921 161208192 271 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