AutismKB 2.0

Evidence Details for SLC17A7


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Basic Information Top
Gene Symbol:SLC17A7 ( BNPI,VGLUT1 )
Gene Full Name: solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7
Band: 19q13.33
Quick LinksEntrez ID:57030; OMIM: 605208; Uniprot ID:VGLU1_HUMAN; ENSEMBL ID: ENSG00000104888; HGNC ID: 16704
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC17A7|57030|nucleotide
ATGGAGTTCCGCCAGGAGGAGTTTCGGAAGCTAGCGGGTCGTGCTCTCGGGAAGCTGCACCGCCTTCTGGAGAAGCGGCAGGAAGGCGCGGAGACGCTGGAGCTG
AGTGCGGATGGGCGCCCGGTGACCACGCAGACCCGGGACCCGCCGGTGGTGGACTGCACCTGCTTCGGCCTCCCTCGCCGCTACATTATCGCCATCATGAGTGGT
CTGGGCTTCTGCATCAGCTTTGGCATCCGCTGCAACCTGGGCGTGGCCATCGTCTCCATGGTCAATAACAGCACGACCCACCGCGGGGGCCACGTGGTGGTGCAG
AAAGCCCAGTTCAGCTGGGATCCAGAGACTGTCGGCCTCATACACGGCTCCTTTTTCTGGGGCTACATTGTCACTCAGATTCCAGGAGGATTTATCTGTCAAAAA
TTTGCAGCCAACAGAGTTTTCGGCTTTGCTATTGTGGCAACATCCACTCTAAACATGCTGATCCCCTCAGCTGCCCGCGTCCACTATGGCTGTGTCATCTTCGTG
AGGATCCTGCAGGGGTTGGTAGAGGGGGTCACATACCCCGCCTGCCATGGGATCTGGAGCAAATGGGCCCCACCCTTAGAACGGAGTCGCCTGGCGACGACAGCC
TTTTGTGGTTCCTATGCTGGGGCGGTGGTCGCGATGCCCCTCGCCGGGGTCCTTGTGCAGTACTCAGGATGGAGCTCTGTTTTCTACGTCTACGGCAGCTTCGGG
ATCTTCTGGTACCTGTTCTGGCTGCTCGTCTCCTACGAGTCCCCCGCGCTGCACCCCAGCATCTCGGAGGAGGAGCGCAAGTACATCGAGGACGCCATCGGAGAG
AGCGCGAAACTCATGAACCCCCTCACGAAGTTTAGCACTCCCTGGCGGCGCTTCTTCACGTCTATGCCAGTCTATGCCATCATCGTGGCCAACTTCTGCCGCAGC
TGGACGTTCTACCTGCTGCTCATCTCCCAGCCCGCCTACTTCGAAGAAGTGTTCGGCTTCGAGATCAGCAAGGTAGGCCTGGTGTCCGCGCTGCCCCACCTGGTC
ATGACCATCATCGTGCCCATCGGCGGCCAGATCGCGGACTTCCTGCGGAGCCGCCGCATCATGTCCACCACCAACGTGCGCAAGTTGATGAACTGCGGAGGCTTC
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>SLC17A7|57030|protein
MEFRQEEFRKLAGRALGKLHRLLEKRQEGAETLELSADGRPVTTQTRDPPVVDCTCFGLPRRYIIAIMSGLGFCISFGIRCNLGVAIVSMVNNSTTHRGGHVVVQ
KAQFSWDPETVGLIHGSFFWGYIVTQIPGGFICQKFAANRVFGFAIVATSTLNMLIPSAARVHYGCVIFVRILQGLVEGVTYPACHGIWSKWAPPLERSRLATTA
FCGSYAGAVVAMPLAGVLVQYSGWSSVFYVYGSFGIFWYLFWLLVSYESPALHPSISEEERKYIEDAIGESAKLMNPLTKFSTPWRRFFTSMPVYAIIVANFCRS
WTFYLLLISQPAYFEEVFGFEISKVGLVSALPHLVMTIIVPIGGQIADFLRSRRIMSTTNVRKLMNCGGFGMEATLLLVVGYSHSKGVAISFLVLAVGFSGFAIS
GFNVNHLDIAPRYASILMGISNGVGTLSGMVCPIIVGAMTKHKTREEWQYVFLIASLVHYGGVIFYGVFASGEKQPWAEPEEMSEEKCGFVGHDQLAGSDDSEME
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top