AutismKB 2.0

Evidence Details for SNX13


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Basic Information Top
Gene Symbol:SNX13 ( KIAA0713,RGS-PX1 )
Gene Full Name: sorting nexin 13
Band: 7p21.1
Quick LinksEntrez ID:23161; OMIM: 606589; Uniprot ID:SNX13_HUMAN; ENSEMBL ID: ENSG00000071189; HGNC ID: 21335
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SNX13|23161|nucleotide
ATGTTAACTGAGGCCAGTCTATCCATATGGGGATGGGGAAGCCTTGGCATTGTCCTTTTTCTGATAACCTTTGGACCCTTTGTAATATTTTATTTGACATTTTAT
ATCCTCTGCTTTGTGGGTGGGGGTTTAGTGGTTACTCTCCTGTTTGGAAAAACAAACTCAGAGAAGTACCTAGAACAGTGTGAACACTCATTTCTTCCTCCAACA
TCACCTGGGGTTCCTAAGTGCTTAGAAGAAATGAAACGGGAAGCCAGGACTATTAAGATTGATAGAAGATTGACGGGTGCCAATATAATTGATGAACCTCTCCAG
CAAGTTATCCAGTTTTCCTTGAGGGATTATGTCCAGTATTGGTATTATACACTAAGCGATGATGAATCTTTTCTTCTTGAAATTAGGCAGACTCTTCAAAACGCA
CTCATTCAGTTTGCTACTAGGTCAAAAGAAATAGACTGGCAACCTTATTTTACTACACGCATTGTAGATGACTTTGGCACACACTTACGAGTATTCAGAAAGGCT
CAACAGAAAATAACAGAGAAAGATGATCAAGTGAAAGGTACAGCAGAAGATCTTGTAGATACCTTCTTTGAAGTTGAAGTTGAAATGGAGAAGGAGGTTTGCCGT
GATCTAGTGTGCACTTCCCCCAAAGATGAAGAAGGATTCCTAAGGGATTTGTGTGAGGTCTTACTATATTTATTGCTACCTCCTGGAGATTTCCAGAACAAGATC
ATGCGATACTTTGTCAGGGAAATCCTTGCACGAGGAATTCTTCTTCCATTAATAAATCAACTCAGTGATCCTGATTATATTAATCAGTATGTCATATGGATGATC
CGTGATTCTAACTGCAACTATGAGGCCTTTATGAACATTATTAAATTGAGTGACAATATTGGAGAGCTAGAAGCAGTCAGAGATAAGGCAGCAGAAGAATTACAG
TATCTTAGATCTCTAGATACAGCTGGTGATGATATCAACACTATCAAAAATCAAATAAATAGCTTACTATTCGTAAAGAAGGTATGTGACTCAAGAATACAGCGA
TTGCAGTCAGGCAAAGAAATAAATACTGTGAAACTTGCAGCAAACTTTGGGAAACTTTGCACAGTCCCCCTGGACAGCATTCTTGTAGACAATGTTGCACTACAA
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>SNX13|23161|protein
MLTEASLSIWGWGSLGIVLFLITFGPFVIFYLTFYILCFVGGGLVVTLLFGKTNSEKYLEQCEHSFLPPTSPGVPKCLEEMKREARTIKIDRRLTGANIIDEPLQ
QVIQFSLRDYVQYWYYTLSDDESFLLEIRQTLQNALIQFATRSKEIDWQPYFTTRIVDDFGTHLRVFRKAQQKITEKDDQVKGTAEDLVDTFFEVEVEMEKEVCR
DLVCTSPKDEEGFLRDLCEVLLYLLLPPGDFQNKIMRYFVREILARGILLPLINQLSDPDYINQYVIWMIRDSNCNYEAFMNIIKLSDNIGELEAVRDKAAEELQ
YLRSLDTAGDDINTIKNQINSLLFVKKVCDSRIQRLQSGKEINTVKLAANFGKLCTVPLDSILVDNVALQFFMDYMQQTGGQAHLFFWMTVEGYRVTAQQQLEVL
LSRQRDGKHQTNQTKGLLRAAAVGIYEQYLSEKASPRVTVDDYLVAKLADTLNHEDPTPEIFDDIQRKVYELMLRDERFYPSFRQNALYVRMLAELDMLKDPSFR
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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) 1 (3) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (4)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top