AutismKB 2.0

Evidence Details for SNX1


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Basic Information Top
Gene Symbol:SNX1 ( HsT17379,MGC8664,SNX1A,Vps5 )
Gene Full Name: sorting nexin 1
Band: 15q22.31
Quick LinksEntrez ID:6642; OMIM: 601272; Uniprot ID:SNX1_HUMAN; ENSEMBL ID: ENSG00000028528; HGNC ID: 11172
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SNX1|6642|nucleotide
ATGGCGTCGGGTGGTGGTGGCTGTAGCGCTTCGGAGAGACTGCCTCCGCCCTTCCCCGGCCTGGAGCCGGAGTCCGAGGGGGCGGCCGGGGGATCAGAACCCGAG
GCTGGGGACAGCGACACCGAGGGGGAGGACATTTTCACCGGCGCCGCGGTGGTCAGTAAACATCAGTCTCCAAAGATAACTACATCCCTTCTTCCCATCAACAAT
GGCTCCAAAGAAAATGGGATCCATGAAGAACAAGACCAAGAGCCACAGGATCTCTTTGCAGATGCCACAGTGGAGCTATCCTTGGACAGCACACAAAATAATCAG
AAGAAGGTGCTAGCCAAAACACTCATTTCTCTTCCTCCTCAGGAAGCCACAAATTCTTCGAAGCCCCAGCCAACCTATGAGGAGCTAGAGGAAGAAGAACAGGAG
GATCAATTTGATTTGACAGTCGGTATAACTGATCCTGAGAAGATAGGGGATGGTATGAATGCATATGTAGCCTACAAAGTTACAACACAGACAAGCTTACCATTG
TTCAGAAGCAAACAGTTTGCAGTAAAAAGAAGATTTAGTGACTTTCTGGGTCTTTATGAGAAGCTTTCCGAGAAGCACTCTCAGAATGGCTTCATTGTCCCTCCG
CCCCCGGAGAAGAGCCTCATAGGGATGACAAAAGTGAAAGTTGGGAAGGAAGATTCTTCTTCTGCAGAATTTCTTGAAAAACGGAGGGCCGCTTTAGAAAGGTAC
CTTCAGAGGATTGTAAATCATCCTACCATGTTACAGGACCCTGACGTCAGAGAGTTCTTGGAAAAAGAAGAGCTGCCACGTGCCGTGGGTACCCAGACATTGAGT
GGTGCTGGTCTCCTCAAGATGTTCAACAAAGCCACAGATGCCGTCAGCAAAATGACCATCAAGATGAATGAATCAGACATTTGGTTTGAGGAGAAGCTCCAGGAG
GTAGAGTGTGAGGAGCAGCGCTTACGGAAACTGCATGCTGTTGTAGAAACTCTAGTCAACCATAGGAAAGAGCTAGCGCTGAACACAGCCCAGTTTGCAAAGAGT
CTAGCCATGCTTGGGAGCTCTGAGGACAACACGGCATTGTCACGGGCACTCTCCCAGCTGGCTGAGGTGGAAGAAAAAATTGAGCAGCTCCACCAGGAACAGGCC
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>SNX1|6642|protein
MASGGGGCSASERLPPPFPGLEPESEGAAGGSEPEAGDSDTEGEDIFTGAAVVSKHQSPKITTSLLPINNGSKENGIHEEQDQEPQDLFADATVELSLDSTQNNQ
KKVLAKTLISLPPQEATNSSKPQPTYEELEEEEQEDQFDLTVGITDPEKIGDGMNAYVAYKVTTQTSLPLFRSKQFAVKRRFSDFLGLYEKLSEKHSQNGFIVPP
PPEKSLIGMTKVKVGKEDSSSAEFLEKRRAALERYLQRIVNHPTMLQDPDVREFLEKEELPRAVGTQTLSGAGLLKMFNKATDAVSKMTIKMNESDIWFEEKLQE
VECEEQRLRKLHAVVETLVNHRKELALNTAQFAKSLAMLGSSEDNTALSRALSQLAEVEEKIEQLHQEQANNDFFLLAELLSDYIRLLAIVRAAFDQRMKTWQRW
QDAQATLQKKREAEARLLWANKPDKLQQAKDEILEWESRVTQYERDFERISTVVRKEVIRFEKEKSKDFKNHVIKYLETLLYSQQQLAKYWEAFLPEAKAIS
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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) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Smith, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top