AutismKB 2.0

Annotation Detail for SLC7A6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SLC7A6 ( DKFZp686K15246,KIAA0245,LAT-2,LAT3,y+LAT-2 )
Gene Full Name: solute carrier family 7 (cationic amino acid transporter, y+ system), member 6
Band: 16q22.1
Quick LinksEntrez ID:9057; OMIM: 605641; Uniprot ID:YLAT2_HUMAN; ENSEMBL ID: ENSG00000103064; HGNC ID: 11064
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003983
  • Location:chr16 66855923-66893222
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 66855221 66856517 1296 55
hScc1 CdLSGSE12603 66854892 66856552 1660 202
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 66880976 66881385 409 0
NFkBII GM10847GSE19485 66855149 66857258 2109 0
Oct1 H2O2-HelaGSE14283 66860488 66860516 28 0
Oct1 HelaGSE14283 66860488 66860516 28 0
PHF8 HeLaGSE20725 66855233 66856769 1536 0
PHF8 Hs68plusFBSGSE20725 66855201 66857232 2031 0
TAF HelaGSE8489 66856236 66856951 715 0
TFAP2C MCF7GSE21234 66856475 66857005 530 0
TFAP2C MCF7GSE21234 66862815 66863405 590 0
TFAP2C MCF7GSE21234 66871141 66871533 392 0
TFAP2C MCF7GSE21234 66879006 66879727 721 0
hScc1 BcellGSE12603 66855316 66856741 1425 0
p130 shRbQuiescentGSE19898 66856152 66856711 559 0
p63 keratinocytesGSE17611 66867010 66867635 625 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-30a* hsa-mir-30a 6 16239240
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
606 mRNA repression TRUE miR-30a-3p SLC7A6 n_a 16239240
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000103064 n_a n_a n_a "leukocyte, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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