AutismKB 2.0

Evidence Details for IPO8


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:IPO8 ( FLJ21954,FLJ26580,RANBP8 )
Gene Full Name: importin 8
Band: 12p11.21
Quick LinksEntrez ID:10526; OMIM: 605600; Uniprot ID:IPO8_HUMAN; ENSEMBL ID: ENSG00000133704; HGNC ID: 9853
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>IPO8|10526|nucleotide
ATGGAAAGTTTGACCCTCAAAGGGTATGCATTGCCTCTTCAGCTAGTGAATAACCAAACCATGACAACATGGATGGAGATCTTCCGAACTATTATCGACAGGACC
GTTCCTCCTGAGACTCTGCACATTGATGAGGATGATAGACCAGAACTGGTATGGTGGAAGTGTAAGAAGTGGGCACTGCATATTGTAGCTCGGCTCTTTGAACGA
TATGGAAGCCCAGGAAATGTCACAAAAGAATACTTTGAATTTTCTGAATTCTTTTTGAAAACCTATGCAGTGGGCATTCAGCAGGTGCTACTAAAAATTTTAGAT
CAATATAGACAGAAAGAATATGTAGCTCCCCGTGTTCTTCAGCAAGCATTCAACTATCTCAACCAAGGGGTGGTTCATTCTATAACCTGGAAGCAGATGAAGCCA
CACATACAGAATATCTCTGAAGATGTGATTTTTTCTGTGATGTGTTATAAAGATGAGGATGAAGAGCTGTGGCAAGAAGATCCATATGAGTATATAAGGATGAAA
TTTGATATTTTTGAAGATTATGCTTCTCCCACCACAGCAGCCCAGACTCTCTTATATACTGCTGCAAAGAAAAGAAAAGAGGTGTTGCCAAAAATGATGGCATTC
TGTTATCAAATCCTGACAGACCCGAACTTTGACCCTAGGAAGAAAGATGGAGCCCTGCATGTGATTGGTTCCCTAGCTGAGATTTTACTGAAGAAGAGTTTATTC
AAGGACCAAATGGAGCTGTTTCTACAAAATCATGTATTTCCATTATTATTGTCTAACCTGGGATATCTTCGAGCTAGATCTTGCTGGGTACTTCATGCATTTAGT
TCTTTGAAGTTCCATAATGAGCTCAATCTAAGAAATGCCGTTGAATTAGCGAAGAAGAGCCTGATTGAAGATAAAGAGATGCCTGTCAAAGTTGAAGCTGCCCTT
GCTCTTCAGTCTTTAATTTCTAACCAGATACAAGCTAAGGAATATATGAAGCCACATGTGAGGCCTATTATGCAGGAACTGTTGCACATTGTTAGAGAGACAGAA
AATGATGATGTTACTAATGTCATCCAGAAGATGATATGTGAATACAGTCAAGAGGTAGCCTCAATTGCTGTTGATATGACCCAACACTTGGCTGAGATATTTGGC
Show »

>IPO8|10526|protein
MESLTLKGYALPLQLVNNQTMTTWMEIFRTIIDRTVPPETLHIDEDDRPELVWWKCKKWALHIVARLFERYGSPGNVTKEYFEFSEFFLKTYAVGIQQVLLKILD
QYRQKEYVAPRVLQQAFNYLNQGVVHSITWKQMKPHIQNISEDVIFSVMCYKDEDEELWQEDPYEYIRMKFDIFEDYASPTTAAQTLLYTAAKKRKEVLPKMMAF
CYQILTDPNFDPRKKDGALHVIGSLAEILLKKSLFKDQMELFLQNHVFPLLLSNLGYLRARSCWVLHAFSSLKFHNELNLRNAVELAKKSLIEDKEMPVKVEAAL
ALQSLISNQIQAKEYMKPHVRPIMQELLHIVRETENDDVTNVIQKMICEYSQEVASIAVDMTQHLAEIFGKVLQSDEYEEVEDKTVMAMGILHTIDTILTVVEDH
KEITQQLENICLRIIDLVLQKHVIEFYEEILSLAYSLTCHSISPQMWQLLGILYEVFQQDCFEYFTDMMPLLHNYVTIDTDTLLSNAKHLEILFTMCRKVLCGDA
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (0) 0 (0) 0 (0) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Soysal, 2011 - aCGH--ASD - - - - 1 - 1
Chen CP, 2014 - aCGHautism - - - - 1 - 1
Linkage Studies Top