AutismKB 2.0

Evidence Details for SLC7A7


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SLC7A7 ( LAT3,LPI,MOP-2,Y+LAT1,y+LAT-1 )
Gene Full Name: solute carrier family 7 (cationic amino acid transporter, y+ system), member 7
Band: 14q11.2
Quick LinksEntrez ID:9056; OMIM: 603593; Uniprot ID:YLAT1_HUMAN; ENSEMBL ID: ENSG00000155465; HGNC ID: 11065
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC7A7|9056|nucleotide
ATGGTTGACAGCACTGAGTATGAAGTGGCCTCCCAGCCTGAGGTGGAAACCTCCCCTTTGGGTGATGGGGCCAGCCCAGGGCCGGAGCAGGTGAAGCTGAAGAAG
GAGATCTCACTGCTTAACGGCGTGTGCCTGATTGTGGGGAACATGATCGGCTCGGGCATCTTTGTTTCCCCCAAGGGTGTGCTCATATACAGTGCCTCCTTTGGT
CTCTCTCTGGTCATCTGGGCTGTCGGGGGCCTCTTCTCCGTCTTTGGGGCCCTTTGTTATGCGGAACTGGGCACCACCATTAAGAAATCTGGGGCCAGCTATGCC
TATATCCTGGAGGCCTTTGGAGGATTCCTTGCTTTCATCAGACTCTGGACCTCCCTGCTCATCATTGAGCCCACCAGCCAGGCCATCATTGCCATCACCTTTGCC
AACTACATGGTACAGCCTCTCTTCCCGAGCTGCTTCGCCCCTTATGCTGCCAGCCGCCTGCTGGCTGCTGCCTGCATTTGTCTCTTAACCTTCATTAACTGTGCC
TATGTCAAATGGGGAACCCTGGTACAAGATATTTTCACCTATGCTAAAGTATTGGCACTGATCGCGGTCATCGTTGCAGGCATTGTTAGACTTGGCCAGGGAGCC
TCTACTCATTTTGAGAATTCCTTTGAGGGTTCATCATTTGCAGTGGGTGACATTGCCCTGGCACTGTACTCAGCTCTGTTCTCCTACTCAGGCTGGGACACCCTC
AACTATGTCACTGAAGAGATCAAGAATCCTGAGAGGAACCTGCCCCTCTCCATTGGCATCTCCATGCCCATTGTCACCATCATCTATATCTTGACCAATGTGGCC
TATTATACTGTGCTAGACATGAGAGACATCTTGGCCAGTGATGCTGTTGCTGTGACTTTTGCAGATCAGATATTTGGAATATTTAACTGGATAATTCCACTGTCA
GTTGCATTATCCTGTTTTGGTGGCCTCAATGCCTCCATTGTGGCTGCTTCTAGGCTTTTCTTTGTGGGCTCAAGAGAAGGCCATCTCCCTGATGCCATCTGCATG
ATCCATGTTGAGCGGTTCACACCAGTGCCTTCTCTGCTCTTCAATGGTATCATGGCATTGATCTACTTGTGCGTGGAAGACATCTTCCAGCTCATTAACTACTAC
Show »

>SLC7A7|9056|protein
MVDSTEYEVASQPEVETSPLGDGASPGPEQVKLKKEISLLNGVCLIVGNMIGSGIFVSPKGVLIYSASFGLSLVIWAVGGLFSVFGALCYAELGTTIKKSGASYA
YILEAFGGFLAFIRLWTSLLIIEPTSQAIIAITFANYMVQPLFPSCFAPYAASRLLAAACICLLTFINCAYVKWGTLVQDIFTYAKVLALIAVIVAGIVRLGQGA
STHFENSFEGSSFAVGDIALALYSALFSYSGWDTLNYVTEEIKNPERNLPLSIGISMPIVTIIYILTNVAYYTVLDMRDILASDAVAVTFADQIFGIFNWIIPLS
VALSCFGGLNASIVAASRLFFVGSREGHLPDAICMIHVERFTPVPSLLFNGIMALIYLCVEDIFQLINYYSFSYWFFVGLSIVGQLYLRWKEPDRPRPLKLSVFF
PIVFCLCTIFLVAVPLYSDTINSLIGIAIALSGLPFYFLIIRVPEHKRPLYLRRIVGSATRYLQVLCMSVAAEMDLEDGGEMPKQRDPKSN
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (1) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Linkage Studies Top