AutismKB 2.0

Evidence Details for NUP210


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NUP210 ( FLJ22389,GP210,KIAA0906,POM210 )
Gene Full Name: nucleoporin 210kDa
Band: 3p25.1
Quick LinksEntrez ID:23225; OMIM: 607703; Uniprot ID:PO210_HUMAN; ENSEMBL ID: ENSG00000132182; HGNC ID: 30052
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NUP210|23225|nucleotide
ATGGCGGCGCGGGGCCGGGGGCTGCTGCTGCTGACGCTGTCGGTGCTGTTGGCGGCGGGCCCCTCCGCCGCTGCGGCCAAGCTCAACATCCCCAAAGTGCTGCTG
CCCTTCACGCGGGCCACGCGCGTTAACTTCACGCTGGAGGCCTCGGAGGGCTGCTACCGCTGGTTGTCCACCCGGCCGGAGGTGGCCAGCATCGAGCCGCTGGGC
CTGGACGAGCAGCAGTGCTCCCAGAAGGCAGTGGTGCAGGCCCGCCTGACCCAGCCTGCCCGCCTCACCAGCATCATCTTCGCAGAGGACATCACCACAGGCCAG
GTCCTGCGCTGTGATGCCATTGTGGACCTCATCCATGACATCCAGATCGTCTCCACCACCCGCGAGCTCTACCTGGAGGACTCCCCCCTGGAGCTGAAGATCCAG
GCCCTGGACTCCGAAGGGAACACCTTCAGCACTCTGGCTGGACTGGTCTTCGAGTGGACGATTGTGAAGGACTCCGAGGCGGACAGGTTCTCAGACTCCCACAAT
GCGCTGCGAATCCTCACTTTCTTGGAGTCTACGTACATCCCTCCTTCTTACATCTCAGAGATGGAGAAGGCTGCCAAGCAAGGGGACACCATCCTGGTGTCTGGG
ATGAAGACCGGGAGCTCCAAGCTCAAGGCTCGCATCCAGGAGGCTGTCTACAAGAATGTACGCCCTGCAGAAGTCAGGCTGCTGATTTTGGAAAACATCCTTCTG
AACCCGGCCTATGACGTCTACCTGATGGTGGGAACCTCCATTCACTACAAGGTGCAGAAGATCAGGCAAGGGAAAATTACAGAACTCTCCATGCCTTCCGATCAG
TACGAGTTGCAGCTTCAGAACAGCATCCCGGGCCCCGAAGGAGACCCAGCCCGGCCGGTGGCTGTCTTGGCCCAGGACACGTCGATGGTCACTGCACTGCAGCTG
GGACAGAGCAGCCTCGTCCTTGGCCACAGGAGTATTCGCATGCAAGGTGCTTCTAGGTTACCCAACAGCACTATCTACGTGGTCGAACCTGGATACCTAGGGTTC
ACTGTTCACCCTGGTGACAGGTGGGTGCTGGAGACCGGCCGCCTGTATGAAATCACCATCGAAGTTTTTGACAAGTTCAGCAACAAGGTCTATGTATCTGACAAC
Show »

>NUP210|23225|protein
MAARGRGLLLLTLSVLLAAGPSAAAAKLNIPKVLLPFTRATRVNFTLEASEGCYRWLSTRPEVASIEPLGLDEQQCSQKAVVQARLTQPARLTSIIFAEDITTGQ
VLRCDAIVDLIHDIQIVSTTRELYLEDSPLELKIQALDSEGNTFSTLAGLVFEWTIVKDSEADRFSDSHNALRILTFLESTYIPPSYISEMEKAAKQGDTILVSG
MKTGSSKLKARIQEAVYKNVRPAEVRLLILENILLNPAYDVYLMVGTSIHYKVQKIRQGKITELSMPSDQYELQLQNSIPGPEGDPARPVAVLAQDTSMVTALQL
GQSSLVLGHRSIRMQGASRLPNSTIYVVEPGYLGFTVHPGDRWVLETGRLYEITIEVFDKFSNKVYVSDNIRIETVLPAEFFEVLSSSQNGSYHRIRALKRGQTA
IDAALTSVVDQDGGVHILQVPVWNQQEVEIHIPITLYPSILTFPWQPKTGAYQYTIRAHGGSGNFSWSSSSHLVATVTVKGVMTTGSDIGFSVIQAHDVQNPLHF
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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (2)
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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Linkage Studies Top