AutismKB 2.0

Evidence Details for SLC17A6


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Basic Information Top
Gene Symbol:SLC17A6 ( DNPI,VGLUT2 )
Gene Full Name: solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6
Band: 11p14.3
Quick LinksEntrez ID:57084; OMIM: 607563; Uniprot ID:VGLU2_HUMAN; ENSEMBL ID: ENSG00000091664; HGNC ID: 16703
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC17A6|57084|nucleotide
ATGGAATCCGTAAAACAAAGGATTTTGGCCCCAGGAAAAGAGGGGCTAAAGAATTTTGCTGGAAAATCACTCGGCCAGATCTACAGGGTGCTGGAGAAGAAGCAA
GACACCGGGGAGACAATCGAGCTGACGGAGGATGGGAAGCCCCTAGAGGTGCCCGAGAGGAAGGCGCCGCTGTGCGACTGCACGTGCTTCGGCCTGCCCCGCCGC
TACATTATCGCCATCATGAGCGGCCTGGGCTTCTGCATCTCCTTCGGTATCCGCTGCAACCTGGGCGTGGCCATTGTGGACATGGTCAACAACAGCACCATCCAC
CGCGGGGGCAAGGTCATCAAGGAGAAAGCCAAATTCAACTGGGACCCGGAAACCGTGGGGATGATCCACGGTTCCTTCTTTTGGGGCTACATCATCACTCAGATT
CCGGGAGGCTACATCGCGTCTCGGCTGGCAGCCAACAGGGTTTTCGGAGCTGCCATACTTCTTACCTCTACCCTAAATATGCTAATTCCATCAGCAGCCAGAGTG
CATTATGGATGTGTCATCTTTGTCAGAATACTGCAGGGACTTGTTGAGGGTGTGACCTACCCAGCATGTCATGGGATATGGAGCAAATGGGCCCCACCTCTAGAG
AGGAGTAGACTGGCAACCACCTCCTTTTGTGGTTCCTATGCCGGAGCTGTGATTGCAATGCCTTTAGCTGGCATTCTTGTGCAGTACACTGGCTGGTCTTCAGTG
TTTTATGTCTACGGAAGCTTTGGAATGGTCTGGTACATGTTTTGGCTTTTGGTGTCTTATGAAAGTCCTGCAAAGCATCCTACTATTACAGATGAAGAACGTAGG
TACATAGAAGAAAGCATTGGAGAGAGTGCAAATCTTTTAGGTGCAATGGAAAAATTCAAGACTCCATGGAGGAAGTTTTTTACATCCATGCCAGTCTATGCAATA
ATTGTTGCAAACTTCTGCAGAAGCTGGACTTTTTATTTATTGCTTATTAGTCAGCCAGCATATTTTGAGGAAGTCTTTGGATTTGAAATTAGCAAGGTTGGTATG
CTATCTGCTGTGCCACACTTAGTAATGACAATTATTGTGCCTATTGGGGGACAAATTGCAGATTTTCTAAGAAGCAAGCAGATTCTTTCAACTACGACAGTGAGA
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>SLC17A6|57084|protein
MESVKQRILAPGKEGLKNFAGKSLGQIYRVLEKKQDTGETIELTEDGKPLEVPERKAPLCDCTCFGLPRRYIIAIMSGLGFCISFGIRCNLGVAIVDMVNNSTIH
RGGKVIKEKAKFNWDPETVGMIHGSFFWGYIITQIPGGYIASRLAANRVFGAAILLTSTLNMLIPSAARVHYGCVIFVRILQGLVEGVTYPACHGIWSKWAPPLE
RSRLATTSFCGSYAGAVIAMPLAGILVQYTGWSSVFYVYGSFGMVWYMFWLLVSYESPAKHPTITDEERRYIEESIGESANLLGAMEKFKTPWRKFFTSMPVYAI
IVANFCRSWTFYLLLISQPAYFEEVFGFEISKVGMLSAVPHLVMTIIVPIGGQIADFLRSKQILSTTTVRKIMNCGGFGMEATLLLVVGYSHTRGVAISFLVLAV
GFSGFAISGFNVNHLDIAPRYASILMGISNGVGTLSGMVCPIIVGAMTKNKSREEWQYVFLIAALVHYGGVIFYAIFASGEKQPWADPEETSEEKCGFIHEDELD
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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 (1) 1 (1) 0 (0) 1 (1) 0 (1) 0 (1) 0 (0) 0 (0) 3 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top