AutismKB 2.0

Evidence Details 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
Sequences Top
>SLC7A8|23428|nucleotide
ATGGAAGAAGGAGCCAGGCACCGAAACAACACCGAAAAGAAACACCCAGGTGGGGGCGAGTCGGACGCCAGCCCCGAGGCTGGTTCCGGAGGGGGCGGAGTAGCC
CTGAAGAAAGAGATCGGATTGGTCAGTGCCTGTGGTATCATCGTAGGGAACATCATCGGCTCTGGAATCTTTGTCTCGCCAAAGGGAGTGCTGGAGAATGCTGGT
TCTGTGGGCCTTGCTCTCATCGTCTGGATTGTGACGGGCTTCATCACAGTTGTGGGAGCCCTCTGCTATGCTGAACTCGGGGTCACCATCCCCAAATCTGGAGGT
GACTACTCCTATGTCAAGGACATCTTCGGAGGACTGGCTGGGTTCCTGAGGCTGTGGATTGCTGTGCTGGTGATCTACCCCACCAACCAGGCTGTCATCGCCCTC
ACCTTCTCCAACTACGTGCTGCAGCCGCTCTTCCCCACCTGCTTCCCCCCAGAGTCTGGCCTTCGGCTCCTGGCTGCCATCTGCTTATTGCTCCTCACATGGGTC
AACTGTTCCAGTGTGCGGTGGGCCACCCGGGTTCAAGACATCTTCACAGCTGGGAAGCTCCTGGCCTTGGCCCTGATTATCATCATGGGGATTGTACAGATATGC
AAAGGAGAGTACTTCTGGCTGGAGCCAAAGAATGCATTTGAGAATTTCCAGGAACCTGACATCGGCCTCGTCGCACTGGCTTTCCTTCAGGGCTCCTTTGCCTAT
GGAGGCTGGAACTTTCTGAATTACGTGACTGAGGAGCTTGTTGATCCCTACAAGAACCTTCCCAGAGCCATCTTCATCTCCATCCCACTGGTCACATTTGTGTAT
GTCTTTGCCAATGTCGCTTATGTCACTGCAATGTCCCCCCAGGAGCTGCTGGCATCCAACGCCGTCGCTGTGACTTTTGGAGAGAAGCTCCTAGGAGTCATGGCC
TGGATCATGCCCATTTCTGTTGCCCTGTCCACATTTGGAGGAGTTAATGGGTCTCTCTTCACCTCCTCTCGGCTGTTCTTCGCTGGAGCCCGAGAGGGCCACCTT
CCCAGTGTGTTGGCCATGATCCACGTGAAGCGCTGCACCCCAATCCCAGCCCTGCTCTTCACATGCATCTCCACCCTGCTGATGCTGGTCACCAGCGACATGTAC
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>SLC7A8|23428|protein
MEEGARHRNNTEKKHPGGGESDASPEAGSGGGGVALKKEIGLVSACGIIVGNIIGSGIFVSPKGVLENAGSVGLALIVWIVTGFITVVGALCYAELGVTIPKSGG
DYSYVKDIFGGLAGFLRLWIAVLVIYPTNQAVIALTFSNYVLQPLFPTCFPPESGLRLLAAICLLLLTWVNCSSVRWATRVQDIFTAGKLLALALIIIMGIVQIC
KGEYFWLEPKNAFENFQEPDIGLVALAFLQGSFAYGGWNFLNYVTEELVDPYKNLPRAIFISIPLVTFVYVFANVAYVTAMSPQELLASNAVAVTFGEKLLGVMA
WIMPISVALSTFGGVNGSLFTSSRLFFAGAREGHLPSVLAMIHVKRCTPIPALLFTCISTLLMLVTSDMYTLINYVGFINYLFYGVTVAGQIVLRWKKPDIPRPI
KINLLFPIIYLLFWAFLLVFSLWSEPVVCGIGLAIMLTGVPVYFLGVYWQHKPKCFSDFIELLTLVSQKMCVVVYPEVERGSGTEEANEDMEEQQQPMYQPTPTK
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Evidence summary Top

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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 (0) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top