AutismKB 2.0

Annotation Detail for GABRG3


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Basic Information Top
Gene Symbol:GABRG3 ( - )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, gamma 3
Band: 15q12
Quick LinksEntrez ID:2567; OMIM: 600233; Uniprot ID:GBRG3_HUMAN; ENSEMBL ID: ENSG00000182256; HGNC ID: 4088
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
110N-linked (GlcNAc...) (Potential).
228N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
110N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
228N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
27SulfotyrosineHMM predict
27Phosphotyrosine(EGFR)HMM predict
27Phosphotyrosine(INSR)HMM predict
27Phosphotyrosine(SRC)HMM predict
27Phosphotyrosine(Syk)HMM predict
27PhosphotyrosineHMM predict
30Phosphoserine(CK1)HMM predict
42Phosphoserine(ATM)HMM predict
110N-linkedHMM predict
146Phosphothreonine(CDK)HMM predict
207Phosphoserine(PKA)HMM predict
207Phosphoserine(PKG)HMM predict
228N-linkedHMM predict
234O-linkedHMM predict
235O-linkedHMM predict
240Phosphotyrosine(INSR)HMM predict
240Phosphotyrosine(Jak)HMM predict
282Phosphothreonine(MAPK)HMM predict
295O-linkedHMM predict
347Phosphothreonine(PKA)HMM predict
392N-linkedHMM predict
393N-linkedHMM predict
406Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_033223
  • Location:chr15 24799262-25451728
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 25460225 25460666 441 8717
TFAP2C MCF7GSE21234 25469449 25469827 378 17910
hScc1 BcellGSE12603 25460187 25460666 479 8698
p63 keratinocytesGSE17611 25454210 25455139 929 2946
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 24845077 24845420 343 0
CTCF JurkatGSE12889 25277654 25277874 220 0
CTCF G2GSE9613 24799062 24799545 483 0
CTCF G2GSE9613 24845224 24845394 170 0
CTCF G2GSE9613 24867219 24867366 147 0
CTCF G2GSE9613 24870324 24870647 323 0
CTCF G2GSE9613 24887483 24887737 254 0
CTCF G2GSE9613 25053970 25054233 263 0
CTCF G2GSE9613 25065259 25065593 334 0
CTCF G2GSE9613 25076737 25077124 387 0
CTCF G2GSE9613 25077918 25078157 239 0
CTCF G2GSE9613 25081024 25081170 146 0
CTCF G2GSE9613 25099229 25099443 214 0
CTCF G2GSE9613 25375495 25375845 350 0
CTCF G2GSE9613 25446134 25446555 421 0
ER E2-MCF7GSE14664 25309561 25309635 74 0
Fos K562GSE19551 25372968 25373622 654 0
Gata1 K562GSE18868 24955424 24956159 735 0
Gata2 K562GSE18868 24955319 24956419 1100 0
Myc K562GSE19551 24845165 24845457 292 0
Myc K562GSE19551 24955538 24956273 735 0
Myc K562GSE19551 25386951 25387252 301 0
NRSF JurkatSISSRdata 25277578 25277795 217 0
NRSF mAbJurkat 24845224 24845394 170 0
Nanog ESGSE20650 25331201 25331664 463 0
Nanog ESGSE20650 25431275 25431849 574 0
Nanog hESGSE18292 24887632 24888014 382 0
Nanog hESGSE18292 25003338 25004190 852 0
Nanog hESGSE18292 25431389 25431843 454 0
Oct1 H2O2-HelaGSE14283 25037277 25037305 28 0
Oct1 H2O2-HelaGSE14283 25138564 25138603 39 0
Oct1 H2O2-HelaGSE14283 25148117 25148144 27 0
Oct1 H2O2-HelaGSE14283 25155211 25155238 27 0
Oct1 H2O2-HelaGSE14283 25182259 25182290 31 0
Oct1 HelaGSE14283 24888962 24888996 34 0
Oct1 HelaGSE14283 25035965 25035994 29 0
Oct1 HelaGSE14283 25138565 25138618 53 0
Oct1 HelaGSE14283 25168913 25168945 32 0
Oct4 hESGSE17917 24845052 24845395 343 0
Oct4 hESGSE21916 25331117 25331546 429 0
P300 T30-glioblastomaGSE21026 25372988 25373719 731 0
RNAII Tamoxifen-MCF7GSE14664 25356944 25357026 82 0
Sox2 hESGSE18292 24887630 24887931 301 0
hScc1 BcellGSE12603 24799279 24799650 371 0
hScc1 BcellGSE12603 24845224 24845394 170 0
hScc1 BcellGSE12603 24850485 24850731 246 0
hScc1 BcellGSE12603 24870142 24870576 434 0
hScc1 BcellGSE12603 24882867 24883266 399 0
hScc1 BcellGSE12603 24891599 24891743 144 0
hScc1 BcellGSE12603 25076882 25077201 319 0
hScc1 BcellGSE12603 25082817 25083072 255 0
hScc1 BcellGSE12603 25360753 25361155 402 0
hScc1 BcellGSE12603 25374544 25374908 364 0
hScc1 BcellGSE12603 25375458 25375882 424 0
p63 keratinocytesGSE17611 25367730 25368293 563 0
p63 keratinocytesGSE17611 25392376 25393039 663 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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