AutismKB 2.0

Evidence Details for XPO7


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Basic Information Top
Gene Symbol:XPO7 ( EXP7,KIAA0745,RANBP16 )
Gene Full Name: exportin 7
Band: 8p21.3
Quick LinksEntrez ID:23039; OMIM: 606140; Uniprot ID:XPO7_HUMAN; ENSEMBL ID: ENSG00000130227; HGNC ID: 14108
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>XPO7|23039|nucleotide
ATGGCGGATCATGTGCAGAGCCTGGCCCAACTAGAGAATCTGTGCAAACAGCTGTATGAAACCACAGACACAACCACTCGACTCCAGGCAGAGAAAGCCTTGGTT
GAATTTACCAACAGCCCTGATTGCCTGAGCAAGTGCCAGCTACTCCTCGAAAGAGGAAGTTCCTCTTACTCCCAGTTACTGGCAGCTACATGCCTTACCAAGCTT
GTATCACGCACAAACAACCCCCTACCATTGGAACAGCGAATAGATATTCGGAACTATGTGCTCAACTACCTTGCCACTCGGCCGAAGTTGGCTACTTTCGTGACA
CAAGCACTTATTCAGTTATATGCCAGAATCACAAAACTGGGCTGGTTTGACTGTCAGAAGGATGACTATGTCTTCAGAAATGCAATCACAGACGTCACAAGGTTT
TTACAGGATAGTGTTGAATACTGCATCATTGGTGTCACAATTTTATCTCAGCTAACCAATGAAATTAATCAAGCAGACACCACCCATCCTTTAACCAAGCACAGA
AAAATAGCCTCTTCTTTTCGCGATTCATCATTATTTGATATCTTCACACTTTCCTGCAATTTACTAAAACAGGCTTCAGGAAAGAATCTAAACTTGAATGATGAA
AGTCAGCATGGCTTGCTCATGCAACTGCTCAAGCTCACTCATAACTGCCTCAACTTTGACTTCATCGGCACTTCCACTGATGAGTCCTCAGACGACCTGTGTACA
GTGCAGATTCCCACCAGCTGGAGATCAGCCTTCTTAGATTCTTCAACCTTGCAGCTGTTTTTTGACCTGTATCATTCCATCCCTCCTTCATTTTCACCTCTGGTA
TTATCCTGCTTGGTACAGATCGCTTCAGTCAGAAGATCCCTGTTTAACAATGCAGAGAGGGCCAAGTTTCTCTCTCATCTTGTTGATGGTGTTAAACGAATACTG
GAAAACCCACAGAGTTTATCAGACCCAAACAATTACCATGAGTTTTGCAGACTACTGGCCCGATTGAAGAGTAACTATCAACTGGGAGAATTGGTAAAGGTGGAA
AACTACCCTGAGGTCATCCGATTGATAGCCAACTTCACAGTGACCAGCCTACAGCACTGGGAATTTGCTCCAAATAGTGTGCACTATCTTCTGAGCCTGTGGCAG
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>XPO7|23039|protein
MADHVQSLAQLENLCKQLYETTDTTTRLQAEKALVEFTNSPDCLSKCQLLLERGSSSYSQLLAATCLTKLVSRTNNPLPLEQRIDIRNYVLNYLATRPKLATFVT
QALIQLYARITKLGWFDCQKDDYVFRNAITDVTRFLQDSVEYCIIGVTILSQLTNEINQADTTHPLTKHRKIASSFRDSSLFDIFTLSCNLLKQASGKNLNLNDE
SQHGLLMQLLKLTHNCLNFDFIGTSTDESSDDLCTVQIPTSWRSAFLDSSTLQLFFDLYHSIPPSFSPLVLSCLVQIASVRRSLFNNAERAKFLSHLVDGVKRIL
ENPQSLSDPNNYHEFCRLLARLKSNYQLGELVKVENYPEVIRLIANFTVTSLQHWEFAPNSVHYLLSLWQRLAASVPYVKATEPHMLETYTPEVTKAYITSRLES
VHIILRDGLEDPLEDTGLVQQQLDQLSTIGRCEYEKTCALLVQLFDQSAQSYQELLQSASASPMDIAVQEGRLTWLVYIIGAVIGGRVSFASTDEQDAMDGELVC
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top