AutismKB 2.0

Evidence Details for SNX14


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Basic Information Top
Gene Symbol:SNX14 ( MGC13217,RGS-PX2 )
Gene Full Name: sorting nexin 14
Band: 6q14.3
Quick LinksEntrez ID:57231; OMIM: NA; Uniprot ID:SNX14_HUMAN; ENSEMBL ID: ENSG00000135317; HGNC ID: 14977
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SNX14|57231|nucleotide
ATGGTGCCCTGGGTGCGGACGATGGGGCAGAAGCTGAAGCAGCGGCTGCGACTGGACGTGGGACGCGAGATCTGCCGCCAGTACCCGCTGTTCTGCTTCCTGCTG
CTCTGTCTCAGCGCCGCCTCCCTGCTTCTTAACAGGTATATTCATATTTTAATGATCTTCTGGTCATTTGTTGCTGGAGTTGTCACATTCTACTGCTCACTAGGA
CCTGATTCTCTCTTACCAAATATATTCTTCACAATAAAATACAAACCCAAGCAGTTAGGACTTCAGGAATTATTTCCTCAAGGTCATAGCTGTGCTGTTTGTGGT
AAAGTGAAATGTAAACGACATAGGCCTTCTTTGCTACTTGAAAACTACCAGCCATGGCTAGACCTGAAAATTTCTTCCAAGGTTGATGCATCTCTCTCAGAGGTG
GATATTCCATCTATTATAACCAAGAAACTATTAAAAGCAGCAATGAAGCATATAGAAGTGATAGTTAAAGCCAGACAGAAAGTAAAAAATACAGAGTTTTTACAG
CAAGCTGCTTTAGAAGAATATGGTCCAGAGCTTCATGTTGCTTTGAGAAGTCGAAGAGATGAATTGCACTATTTAAGGAAACTTACTGAACTGCTTTTTCCTTAT
ATTTTGCCTCCTAAAGCAACAGACTGCAGATCTCTGACCTTACTTATAAGAGAGATTCTGTCTGGCTCTGTGTTCCTTCCTTCTTTGGATTTCCTAGCTGATCCA
GATACTGTGAATCATTTGCTTATCATCTTCATAGATGACAGTCCACCTGAAAAAGCAACTGAACCGGCTTCTCCTTTGGTTCCATTCTTGCAGAAATTTGCAGAA
CCTAGAAATAAAAAGCCATCTGTGCTGAAGTTAGAATTGAAGCAAATCAGAGAGCAACAAGATCTTTTATTTCGTTTTATGAACTTTCTGAAACAAGAAGGCGCA
GTGCACGTGTTGCAGTTTTGTTTGACTGTGGAGGAATTTAATGATAGAATTTTACGACCAGAATTATCAAATGATGAAATGCTGTCTCTTCATGAAGAATTGCAG
AAGATTTATAAAACATACTGTTTGGATGAAAGTATTGACAAAATTAGATTTGATCCCTTCATTGTAGAAGAGATTCAAAGAATTGCTGAAGGCCCATACATAGAT
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>SNX14|57231|protein
MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLLLNRYIHILMIFWSFVAGVVTFYCSLGPDSLLPNIFFTIKYKPKQLGLQELFPQGHSCAVCG
KVKCKRHRPSLLLENYQPWLDLKISSKVDASLSEVDIPSIITKKLLKAAMKHIEVIVKARQKVKNTEFLQQAALEEYGPELHVALRSRRDELHYLRKLTELLFPY
ILPPKATDCRSLTLLIREILSGSVFLPSLDFLADPDTVNHLLIIFIDDSPPEKATEPASPLVPFLQKFAEPRNKKPSVLKLELKQIREQQDLLFRFMNFLKQEGA
VHVLQFCLTVEEFNDRILRPELSNDEMLSLHEELQKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYIDVVKLQTMRCLFEAYEHVLSLLENVFTPMFCHSDEY
FRQLLRGAESPTRNSKLNRNTQKRGESFGISRIGSKIKGVFKSTTMEGAMLPNYGVAEGEDDFIEEGIVVMEDDSPVEAVSTPNTPRNLAAWKISIPYVDFFEDP
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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 (1) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 14 (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
Quintela I, 2015 - ---autistic disorder - - - - 1 - 1
Linkage Studies Top