AutismKB 2.0

Annotation Detail for SLC7A8


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Basic Information Top
Gene Symbol:SLC7A8 ( LAT2,LPI-PC1 )
Gene Full Name: solute carrier family 7 (amino acid transporter, L-type), member 8
Band: 14q11.2
Quick LinksEntrez ID:23428; OMIM: 604235; Uniprot ID:LAT2_HUMAN; ENSEMBL ID: ENSG00000092068; HGNC ID: 11066
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
9N-linkedHMM predict
10N-linkedHMM predict
24Phosphoserine(ATM)HMM predict
61Phosphoserine(CDC2)HMM predict
176N-linkedHMM predict
253Phosphotyrosine(INSR)HMM predict
331N-linkedHMM predict
385Phosphotyrosine(Jak)HMM predict
519Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012244
  • Location:chr14 22664345-22722688
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 22726177 22726404 227 3602
CTCF CD4SISSRdata 22726177 22726404 227 3602
CTCF G2GSE9613 22725940 22726647 707 3605
Oct1 HelaGSE14283 22737718 22737758 40 15050
Oct1 HelaGSE14283 22741266 22741299 33 18594
hScc1 BcellGSE12603 22725905 22726647 742 3588
hScc1 CdLSGSE12603 22725713 22726602 889 3469
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 22693272 22693628 356 0
CTCF G2GSE9613 22700376 22700661 285 0
FOXA1 MCF7GSE15244 22713130 22713556 426 0
FoxA1 MCF7MACSdata 22710663 22711029 366 0
FoxA1 MCF7MACSdata 22712964 22713270 306 0
H3K4me3 colorectalcancer 22721926 22722603 677 0
Myc K562GSE19551 22703202 22703692 490 0
Nanog hESGSE18292 22713843 22714270 427 0
RARA MCF7GSE15244 22710150 22711400 1250 0
RARA MCF7GSE15244 22713130 22713343 213 0
RARG MCF7GSE15244 22710079 22711538 1459 0
RARG MCF7GSE15244 22713130 22713520 390 0
RARG MCF7GSE15244 22714574 22714757 183 0
TFAP2C MCF7GSE21234 22710657 22711135 478 0
hScc1 BcellGSE12603 22694626 22694996 370 0
p130 QuiescentGSE19898 22694163 22694401 238 0
p130 SenescentGSE19898 22694067 22694427 360 0
p130 shRbQuiescentGSE19898 22694208 22694728 520 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