AutismKB 2.0

Annotation Detail for SLC6A13


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Basic Information Top
Gene Symbol:SLC6A13 ( GAT-2,GAT2 )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, GABA), member 13
Band: 12p13.33
Quick LinksEntrez ID:6540; OMIM: NA; Uniprot ID:S6A13_HUMAN; ENSEMBL ID: ENSG00000010379; HGNC ID: 11046
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
173N-linked (GlcNAc...) (Potential).
269N-linked (GlcNAc...) (Potential).
587Phosphothreonine (By similarity).
591Phosphoserine (By similarity).
Location(AA) Modifications Resource
151N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
155N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
160N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
565Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
6Phosphoserine(CK2)HMM predict
10Phosphoserine(IKK)HMM predict
151N-linkedHMM predict
155N-linkedHMM predict
160N-linkedHMM predict
163Phosphoserine(CDK)HMM predict
163O-linkedHMM predict
163Phosphoserine(CDC2)HMM predict
204S-palmitoylHMM predict
251N-linkedHMM predict
275S-palmitoylHMM predict
528O-linkedHMM predict
532PhosphoserineHMM predict
536Phosphoserine(IKK)HMM predict
538Phosphoserine(CK2)HMM predict
538Phosphoserine(IKK)HMM predict
548O-linkedHMM predict
548Phosphoserine(IKK)HMM predict
564S-farnesylHMM predict
565Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016615
  • Location:chr12 200051-242262
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 199422 199624 202 529
CTCF CD4SISSRdata 199422 199624 202 529
ETS1 JurkatGSE17954 199033 199773 740 649
hScc1 BcellGSE12603 199238 199683 445 591
hScc1 CdLSGSE12603 199102 199758 656 622
hScc1 G2GSE9613 199102 199683 581 659
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GATA3 MCF7GSE15244 236976 238841 1865 0
RARA MCF7GSE15244 238482 238841 359 0
hScc1 BcellGSE12603 236814 237396 582 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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