AutismKB 2.0

Annotation Detail for SLC6A1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SLC6A1 ( GABATHG,GABATR,GAT1 )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, GABA), member 1
Band: 3p25.3
Quick LinksEntrez ID:6529; OMIM: 137165; Uniprot ID:SC6A1_HUMAN; ENSEMBL ID: ENSG00000157103; HGNC ID: 11042
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
176N-linked (GlcNAc...) (Potential).
181N-linked (GlcNAc...) (Potential).
184N-linked (GlcNAc...) (Potential).
599PDZ-binding.
Location(AA) Modifications Resource
107PhosphotyrosinePhospho.ELM 6.0
176N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
181N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
184N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
317PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
107Phosphotyrosine(INSR)HMM predict
176N-linkedHMM predict
181N-linkedHMM predict
184N-linkedHMM predict
280Phosphoserine(PKG)HMM predict
317Phosphotyrosine(EGFR)HMM predict
324S-palmitoylHMM predict
325S-palmitoylHMM predict
378Phosphoserine(ATM)HMM predict
438N-linkedHMM predict
493S-palmitoylHMM predict
593Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003042
  • Location:chr3 11009455-11055933
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 10989661 10990090 429 19580
CTCF G2GSE9613 11000622 11000760 138 8765
CTCF G2GSE9613 11004030 11004202 172 5340
CTCF G2GSE9613 11008830 11009042 212 520
Fos K562GSE19551 10992444 10992940 496 16764
H3K27me3 colorectalcancer 11007759 11008458 699 1347
H3K27me3 colorectalcancer 11008830 11009042 212 520
KLF4 hESGSE17917 11009053 11009450 397 204
Oct1 H2O2-HelaGSE14283 11002585 11002612 27 6857
hScc1 BcellGSE12603 11003364 11003653 289 5947
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 11062358 11062523 165 6507
CTCF G2GSE9613 11064925 11065412 487 9235
CTCF G2GSE9613 11071655 11071799 144 15794
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 11009441 11009798 357 0
CTCF G2GSE9613 11011152 11011597 445 0
CTCF G2GSE9613 11013907 11014277 370 0
CTCF G2GSE9613 11032114 11032281 167 0
CTCF G2GSE9613 11033799 11034109 310 0
CTCF G2GSE9613 11038282 11038712 430 0
CTCF G2GSE9613 11039152 11039886 734 0
CTCF G2GSE9613 11045512 11046039 527 0
CTCF G2GSE9613 11047184 11047365 181 0
CTCF G2GSE9613 11051089 11051370 281 0
CTCF G2GSE9613 11052191 11052358 167 0
CTCF G2GSE9613 11053574 11053931 357 0
FOXA1 MCF7GSE15244 11019042 11019594 552 0
H3K27me3 colorectalcancer 11010365 11011851 1486 0
RARA MCF7GSE15244 11016982 11017459 477 0
hScc1 BcellGSE12603 11009441 11009798 357 0
hScc1 BcellGSE12603 11027489 11028044 555 0
p63 keratinocytesGSE17611 11022187 11023166 979 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