AutismKB 2.0

Annotation Detail for GABRQ


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Basic Information Top
Gene Symbol:GABRQ ( MGC129629,MGC129630,THETA )
Gene Full Name: gamma-aminobutyric acid (GABA) receptor, theta
Band: Xq28
Quick LinksEntrez ID:55879; OMIM: 300349; Uniprot ID:GBRT_HUMAN; ENSEMBL ID: ENSG00000147402; HGNC ID: 14454
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
127N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
127N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
25Phosphotyrosine(EGFR)HMM predict
27Phosphoserine(CDC2)HMM predict
27Phosphoserine(CDK)HMM predict
104SulfotyrosineHMM predict
127N-linkedHMM predict
179O-linkedHMM predict
206Phosphotyrosine(INSR)HMM predict
241Phosphothreonine(CK2)HMM predict
280O-linkedHMM predict
410Phosphoserine(CDK)HMM predict
410Phosphoserine(MAPK)HMM predict
416Phosphoserine(IKK)HMM predict
416Phosphoserine(CK1)HMM predict
421Phosphoserine(CK2)HMM predict
433Phosphoserine(ATM)HMM predict
433Phosphoserine(IKK)HMM predict
433Phosphoserine(CDC2)HMM predict
437Phosphoserine(CK1)HMM predict
451O-linkedHMM predict
451Phosphoserine(ATM)HMM predict
455Phosphoserine(CK1)HMM predict
500Phosphoserine(CK1)HMM predict
501N-linkedHMM predict
503Phosphoserine(CK1)HMM predict
505Phosphoserine(CK2)HMM predict
506Phosphoserine(CK1)HMM predict
555N-linkedHMM predict
561N-linkedHMM predict
574Phosphoserine(CK1)HMM predict
575Phosphoserine(CK1)HMM predict
575Phosphoserine(CK2)HMM predict
576Phosphoserine(CK1)HMM predict
576Phosphoserine(CK2)HMM predict
578Phosphoserine(IKK)HMM predict
581O-linkedHMM predict
581Phosphoserine(IKK)HMM predict
585Phosphoserine(MAPK)HMM predict
585Phosphoserine(CDC2)HMM predict
614PhenylalanineHMM predict
615PhenylalanineHMM predict
616PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018558
  • Location:chrX 151557292-151572480
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 151551373 151551887 514 5663
CTCF G2GSE9613 151554878 151555444 566 2132
CTCF G2GSE9613 151556364 151557343 979 439
hScc1 G2GSE9613 151551373 151552208 835 5502
hScc1 G2GSE9613 151554770 151555444 674 2186
hScc1 G2GSE9613 151556580 151557368 788 319
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 151577186 151577358 172 4792
FOXA1 MCF7GSE15244 151573019 151574369 1350 1214
Oct1 HelaGSE14283 151586343 151586409 66 13896
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 151559429 151559683 254 0
CTCF G2GSE9613 151561286 151561509 223 0
CTCF G2GSE9613 151561968 151562353 385 0
CTCF G2GSE9613 151566588 151566810 222 0
CTCF G2GSE9613 151571157 151571412 255 0
Myc K562GSE19551 151567096 151567501 405 0
Nanog hESGSE18292 151560386 151560662 276 0
Oct1 H2O2-HelaGSE14283 151572146 151572181 35 0
Oct4 hESGSE21916 151560379 151560880 501 0
RARG MCF7GSE15244 151560640 151561324 684 0
Sox2 hESGSE18292 151560426 151560663 237 0
hScc1 G2GSE9613 151560711 151561509 798 0
hScc1 G2GSE9613 151566511 151566955 444 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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