AutismKB 2.0

Evidence Details for XPO1


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Basic Information Top
Gene Symbol:XPO1 ( CRM1,DKFZp686B1823,emb )
Gene Full Name: exportin 1 (CRM1 homolog, yeast)
Band: 2p15
Quick LinksEntrez ID:7514; OMIM: 602559; Uniprot ID:XPO1_HUMAN; ENSEMBL ID: ENSG00000082898; HGNC ID: 12825
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>XPO1|7514|nucleotide
ATGCCAGCAATTATGACAATGTTAGCAGACCATGCAGCTCGTCAGCTGCTTGATTTCAGCCAAAAACTGGATATCAACTTATTAGATAATGTGGTGAATTGCTTA
TACCATGGAGAAGGAGCCCAGCAAAGAATGGCTCAAGAAGTACTGACACATTTAAAGGAGCATCCTGATGCTTGGACAAGAGTCGACACAATTTTGGAATTTTCT
CAGAATATGAATACGAAATACTATGGACTACAAATTTTGGAAAATGTGATAAAAACAAGGTGGAAGATTCTTCCAAGGAACCAGTGCGAAGGAATAAAAAAATAC
GTTGTTGGCCTCATTATCAAGACGTCATCTGACCCAACTTGTGTAGAGAAAGAAAAGGTGTATATCGGAAAATTAAATATGATCCTTGTTCAGATACTGAAACAA
GAATGGCCCAAACATTGGCCAACTTTTATCAGTGATATTGTTGGAGCAAGTAGGACCAGCGAAAGTCTCTGTCAAAATAATATGGTGATTCTTAAACTCTTGAGT
GAAGAAGTATTTGATTTCTCTAGTGGACAGATAACCCAAGTCAAATCTAAGCATTTAAAAGACAGCATGTGCAATGAATTCTCACAGATATTTCAACTGTGTCAG
TTTGTAATGGAAAATTCTCAAAATGCTCCACTTGTACATGCAACCTTGGAAACATTGCTCAGATTTCTGAACTGGATTCCCCTGGGATATATTTTTGAGACCAAA
TTAATCAGCACATTGATTTATAAGTTCCTGAATGTTCCAATGTTTCGAAATGTCTCTCTGAAGTGCCTCACTGAGATTGCTGGTGTGAGTGTAAGCCAATATGAA
GAACAATTTGTAACACTATTTACTCTGACAATGATGCAACTAAAGCAGATGCTTCCTTTAAATACCAATATTCGACTTGCGTACTCAAATGGAAAAGATGATGAA
CAGAACTTCATTCAAAATCTCAGTTTGTTTCTCTGCACCTTTCTTAAGGAACATGATCAACTTATAGAAAAAAGATTAAATCTCAGGGAAACTCTTATGGAGGCC
CTTCATTATATGTTGTTGGTATCTGAAGTAGAAGAAACTGAAATCTTTAAAATTTGTCTTGAATACTGGAATCATTTGGCTGCTGAACTCTATAGAGAGAGTCCA
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>XPO1|7514|protein
MPAIMTMLADHAARQLLDFSQKLDINLLDNVVNCLYHGEGAQQRMAQEVLTHLKEHPDAWTRVDTILEFSQNMNTKYYGLQILENVIKTRWKILPRNQCEGIKKY
VVGLIIKTSSDPTCVEKEKVYIGKLNMILVQILKQEWPKHWPTFISDIVGASRTSESLCQNNMVILKLLSEEVFDFSSGQITQVKSKHLKDSMCNEFSQIFQLCQ
FVMENSQNAPLVHATLETLLRFLNWIPLGYIFETKLISTLIYKFLNVPMFRNVSLKCLTEIAGVSVSQYEEQFVTLFTLTMMQLKQMLPLNTNIRLAYSNGKDDE
QNFIQNLSLFLCTFLKEHDQLIEKRLNLRETLMEALHYMLLVSEVEETEIFKICLEYWNHLAAELYRESPFSTSASPLLSGSQHFDVPPRRQLYLPMLFKVRLLM
VSRMAKPEEVLVVENDQGEVVREFMKDTDSINLYKNMRETLVYLTHLDYVDTERIMTEKLHNQVNGTEWSWKNLNTLCWAIGSISGAMHEEDEKRFLVTVIKDLL
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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) 0 (3) 0 (0) 3 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 6 (7)
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
Rajcan-Separovic, 2007 - aCGHASD - - - - 1 - 1
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top