AutismKB 2.0

Annotation Detail for SLC1A6


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Basic Information Top
Gene Symbol:SLC1A6 ( EAAT4,MGC33092,MGC43671 )
Gene Full Name: solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6
Band: 19p13.12
Quick LinksEntrez ID:6511; OMIM: 600637; Uniprot ID:EAA4_HUMAN; ENSEMBL ID: ENSG00000105143; HGNC ID: 10944
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
216N-linked (GlcNAc...) (Potential).
232N-linked (GlcNAc...) (Potential).
239N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
216N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
232N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
239N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
118Phosphoserine(CAMK2)HMM predict
216N-linkedHMM predict
232N-linkedHMM predict
239N-linkedHMM predict
388O-linkedHMM predict
389O-linkedHMM predict
390O-linkedHMM predict
393O-linkedHMM predict
457O-linkedHMM predict
459O-linkedHMM predict
462O-linkedHMM predict
523Phosphoserine(ATM)HMM predict
547MethionineHMM predict
554PhosphoserineHMM predict
555MethylarginineHMM predict
557MethylarginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005071
  • Location:chr19 14921990-14944729
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K27me3 colorectalcancer 14950644 14951064 420 6125
hScc1 BcellGSE12603 14951201 14951802 601 6772
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 14924657 14924846 189 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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