AutismKB 2.0

Evidence Details for XPO6


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Basic Information Top
Gene Symbol:XPO6 ( EXP6,FLJ22519,KIAA0370,RANBP20 )
Gene Full Name: exportin 6
Band: 16p11.2
Quick LinksEntrez ID:23214; OMIM: 608411; Uniprot ID:XPO6_HUMAN; ENSEMBL ID: ENSG00000169180; HGNC ID: 19733
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>XPO6|23214|nucleotide
ATGGCATCTGAAGAAGCCTCTCTCAGGGCATTGGAAAGTCTGATGACAGAATTTTTTCACGATTGTACAACCAATGAAAGAAAACGTGAGATAGAGGAGCTTCTT
AATAACTTTGCCCAGCAAATAGGAGCCTGGAGATTCTGCCTGTACTTTCTCTCCAGCACTAGGAATGACTATGTAATGATGTACAGTTTAACAGTTTTTGAGAAT
CTGATCAATAAAATGTGGCTTGGGGTCCCATCTCAGGATAAGATGGAAATCCGTAGCTGTCTGCCCAAACTCCTTTTGGCTCACCATAAAACCTTACCTTACTTT
ATCCGGAACAAGCTCTGCAAAGTTATTGTTGATATTGGACGTCAGGATTGGCCCATGTTCTACCACGACTTTTTTACTAACATTTTACAGTTGATCCAGTCCCCT
GTGACAACCCCCCTTGGGCTGATCATGTTGAAGACAACTTCAGAAGAGCTGGCTTGTCCCCGTGAGGACCTCAGTGTGGCTCGGAAGGAGGAGTTGCGGAAGCTG
CTACTGGACCAGGTGCAGACAGTGCTTGGGCTACTGACAGGTATCTTGGAGACTGTCTGGGACAAACACAGTGTTACTGCTGCCACTCCACCACCATCCCCGACC
TCAGGAGAAAGTGGTGACTTACTGAGTAACCTGTTGCAGAGTCCCAGTTCAGCCAAACTGTTGAATCAGCCAATTCCCATCCTTGATGTGGAGAGTGAGTATATC
TGTTCCCTGGCTTTGGAGTGCCTGGCCCATCTCTTCAGTTGGATTCCTCTGTCTGCCAGCATCACCCCATCCCTCCTTACCACCATCTTCCACTTTGCACGATTT
GGCTGTGACATCCGGGCCAGAAAGATGGCGTCAGTTAACGGCAGCAGCCAGAACTGTGTCTCGGGTCAGGAGCGCGGCCGGCTGGGGGTCCTGGCCATGTCCTGC
ATCAATGAACTCATGTCCAAGAACTGTGTGCCTATGGAATTTGAGGAGTATTTACTGCGTATGTTCCAGCAGACTTTCTACCTCCTGCAGAAAATCACCAAGGAT
AACAATGCCCACACAGTGAAGAGCAGGCTAGAAGAGCTCGATGAGAGCTATATCGAGAAGTTTACTGACTTTCTTCGGCTCTTTGTGAGTGTTCACCTAAGAAGA
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>XPO6|23214|protein
MASEEASLRALESLMTEFFHDCTTNERKREIEELLNNFAQQIGAWRFCLYFLSSTRNDYVMMYSLTVFENLINKMWLGVPSQDKMEIRSCLPKLLLAHHKTLPYF
IRNKLCKVIVDIGRQDWPMFYHDFFTNILQLIQSPVTTPLGLIMLKTTSEELACPREDLSVARKEELRKLLLDQVQTVLGLLTGILETVWDKHSVTAATPPPSPT
SGESGDLLSNLLQSPSSAKLLNQPIPILDVESEYICSLALECLAHLFSWIPLSASITPSLLTTIFHFARFGCDIRARKMASVNGSSQNCVSGQERGRLGVLAMSC
INELMSKNCVPMEFEEYLLRMFQQTFYLLQKITKDNNAHTVKSRLEELDESYIEKFTDFLRLFVSVHLRRIESYSQFPVVEFLTLLFKYTFHQPTHEGYFSCLDI
WTLFLDYLTSKIKSRLGDKEAVLNRYEDALVLLLTEVLNRIQFRYNQAQLEELDDETLDDDQQTEWQRYLRQSLEVVAKVMELLPTHAFSTLFPVLQDNLEVYLG
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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) 2 (5) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (5)
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
Finelli, 2004 - FISHautistic feature - - - - 2 - 2
Weiss, 2008 USA, Ireland aCGH, SNP microarrayASD 751 - - - 2252 23502 25754
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top