AutismKB 2.0

Annotation Detail for GABRP


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Basic Information Top
Gene Symbol:GABRP ( MGC126386,MGC126387 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, pi
Band: 5q35.1
Quick LinksEntrez ID:2568; OMIM: 602729; Uniprot ID:GBRP_HUMAN; ENSEMBL ID: ENSG00000094755; HGNC ID: 4089
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
43N-linked (GlcNAc...) (Potential).
102N-linked (GlcNAc...) (Potential).
145N-linked (GlcNAc...) (Potential).
196N-linked (GlcNAc...) (Potential).
228N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
43N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
102N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
145N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
196N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
228N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
43N-linkedHMM predict
49N-linkedHMM predict
74Phosphoserine(CK1)HMM predict
102N-linkedHMM predict
106Phosphothreonine(PKC)HMM predict
145N-linkedHMM predict
183Phosphotyrosine(INSR)HMM predict
196N-linkedHMM predict
217Phosphothreonine(PKC)HMM predict
222Phosphoserine(ATM)HMM predict
228N-linkedHMM predict
295Phosphoserine(IKK)HMM predict
342Phosphothreonine(PKC)HMM predict
356N-linkedHMM predict
361Phosphoserine(PKC)HMM predict
367Phosphoserine(PKG)HMM predict
410N-linkedHMM predict
413N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014211
  • Location:chr5 170143342-170173625
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 170130299 170130481 182 12953
CTCF G2GSE9613 170132087 170132818 731 10890
CTCF G2GSE9613 170134533 170134802 269 8675
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 170146946 170147159 213 0
CTCF G2GSE9613 170150967 170151140 173 0
CTCF G2GSE9613 170154867 170155010 143 0
CTCF G2GSE9613 170169102 170169526 424 0
Myc hESGSE17917 170149767 170150116 349 0
hScc1 BcellGSE12603 170150780 170151345 565 0
hScc1 CdLSGSE12603 170150868 170151345 477 0
hScc1 G2GSE9613 170150522 170151345 823 0
hScc1 G2GSE9613 170168958 170169712 754 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