AutismKB 2.0

Annotation Detail for SLC6A12


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Basic Information Top
Gene Symbol:SLC6A12 ( BGT-1,BGT1,FLJ38727 )
Gene Full Name: solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12
Band: 12p13.33
Quick LinksEntrez ID:6539; OMIM: 603080; Uniprot ID:S6A12_HUMAN; ENSEMBL ID: ENSG00000111181; HGNC ID: 11045
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
171N-linked (GlcNAc...) (Potential).
183N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
171N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
183N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
101Phosphoserine(ATM)HMM predict
171N-linkedHMM predict
179O-linkedHMM predict
179Phosphothreonine(CDK)HMM predict
179Phosphothreonine(MAPK)HMM predict
183N-linkedHMM predict
186Phosphoserine(CDK)HMM predict
227S-palmitoylHMM predict
377Phosphoserine(ATM)HMM predict
482Phosphotyrosine(Syk)HMM predict
599Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003044
  • Location:chr12 169512-192752
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF pAbJurkat 192578 193795 1217 434
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 167018 167240 222 2384
CTCF CD4GSE12889 168640 168790 150 798
CTCF CD4SISSRdata 168640 168790 150 798
FOXA1 MCF7GSE15244 169270 169514 244 121
NRSF pAbJurkat 160062 160283 221 9340
NRSF pAbJurkat 161703 162088 385 7617
NRSF pAbJurkat 168859 169306 447 430
RARG MCF7GSE15244 169306 169514 208 103
hScc1 BcellGSE12603 160062 160283 221 9340
hScc1 BcellGSE12603 168593 168985 392 724
hScc1 CdLSGSE12603 168397 168859 462 885
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 181778 182242 464 0
TFAP2C MCF7GSE21234 190142 190696 554 0
hScc1 BcellGSE12603 189172 189788 616 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
5496 mRNA chr12 183071 184519 59 mRNA SLC6A12 chr12 169512 192759Sense/Antisense (SA) pairs

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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