AutismKB 2.0

Evidence Details for SLC34A3


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Basic Information Top
Gene Symbol:SLC34A3 ( FLJ38680,HHRH,NPTIIc )
Gene Full Name: solute carrier family 34 (sodium phosphate), member 3
Band: 9q34.3
Quick LinksEntrez ID:142680; OMIM: 609826; Uniprot ID:NPT2C_HUMAN; ENSEMBL ID: ENSG00000198569; HGNC ID: 20305
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SLC34A3|142680|nucleotide
ATGCCGAGTTCCCTTCCCGGCAGCCAGGTCCCCCACCCCACTCTGGACGCGGTTGACCTAGTGGAAAAGACTCTGAGGAATGAAGGGACCTCCAGTTCTGCTCCA
GTCTTGGAGGAAGGGGACACAGACCCCTGGACCCTCCCTCAGCTGAAGGACACAAGCCAGCCCTGGAAAGAGCTCCGCGTGGCCGGCAGGCTGCGCCGCGTGGCC
GGCAGCGTCCTCAAGGCCTGCGGGCTCCTCGGCAGCCTGTACTTCTTCATCTGCTCTCTGGACGTCCTCAGCTCCGCCTTCCAGCTGCTGGGCAGCAAAGTGGCC
GGAGACATCTTCAAGGACAACGTGGTGCTGTCCAACCCTGTGGCTGGACTGGTCATTGGCGTGCTGGTCACAGCCCTGGTGCAGAGTTCCAGCACGTCCTCCTCC
ATCGTGGTCAGCATGGTGGCTGCTAAGCTGCTGACTGTCCGGGTGTCTGTGCCCATCATCATGGGTGTCAACGTAGGCACATCCATCACCAGCACCCTGGTCTCA
ATGGCGCAGTCAGGGGACCGGGATGAATTTCAGAGGGCTTTCAGCGGCTCGGCGGTGCACGGGATCTTCAACTGGCTCACAGTGCTGGTCCTGCTGCCACTGGAG
AGCGCCACGGCCCTGCTGGAGAGGCTAAGTGAGCTAGCCCTGGGTGCCGCCAGCCTGACACCCAGGGCGCAGGCGCCCGACATCCTCAAGGTGCTGACGAAGCCG
CTCACACACCTCATCGTGCAGTTGGACTCCGACATGATCATGAGCAGTGCCACAGGCAACGCCACTAACAGCAGTCTCATTAAGCACTGGTGCGGCACCACGGGG
CAGCCGACCCAGGAGAACAGCAGCTGTGGCGCCTTCGGCCCGTGCACAGAGAAGAACAGCACAGCCCCGGCGGACAGGCTGCCCTGCCGCCACCTGTTTGCGGGC
ACGGAGCTCACGGACCTGGCCGTGGGCTGCATCCTGCTGGCCGGCTCCCTGCTGGTGCTCTGCGGCTGCCTGGTCCTCATAGTCAAGCTGCTCAACTCTGTGCTG
CGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGCGGACTTCCCCTTCCCGCTGGGCTGGCTCGGCGGCTACCTGGCCGTCCTCGCGGGCGCCGGCCTG
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>SLC34A3|142680|protein
MPSSLPGSQVPHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDTDPWTLPQLKDTSQPWKELRVAGRLRRVAGSVLKACGLLGSLYFFICSLDVLSSAFQLLGSKVA
GDIFKDNVVLSNPVAGLVIGVLVTALVQSSSTSSSIVVSMVAAKLLTVRVSVPIIMGVNVGTSITSTLVSMAQSGDRDEFQRAFSGSAVHGIFNWLTVLVLLPLE
SATALLERLSELALGAASLTPRAQAPDILKVLTKPLTHLIVQLDSDMIMSSATGNATNSSLIKHWCGTTGQPTQENSSCGAFGPCTEKNSTAPADRLPCRHLFAG
TELTDLAVGCILLAGSLLVLCGCLVLIVKLLNSVLRGRVAQVVRTVINADFPFPLGWLGGYLAVLAGAGLTFALQSSSVFTAAVVPLMGVGVISLDRAYPLLLGS
NIGTTTTALLAALASPADRMLSALQVALIHFFFNLAGILLWYLVPALRLPIPLARHFGVVTARYRWVAGVYLLLGFLLLPLAAFGLSLAGGMVLAAVGGPLVGLV
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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 (2) 1 (3) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (6)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top