AutismKB 2.0

Evidence Details for NUP133


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Basic Information Top
Gene Symbol:NUP133 ( FLJ10814,MGC21133,hNUP133 )
Gene Full Name: nucleoporin 133kDa
Band: 1q42.13
Quick LinksEntrez ID:55746; OMIM: 607613; Uniprot ID:NU133_HUMAN; ENSEMBL ID: ENSG00000069248; HGNC ID: 18016
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NUP133|55746|nucleotide
ATGTTCCCAGCCGCCCCTTCTCCGCGGACCCCGGGTACCGGGTCCCGAAGGGGCCCGCTGGCCGGACTCGGGCCCGGCTCCACGCCCCGGACGGCTAGCAGGAAG
GGTCTGCCCCTGGGGTCTGCAGTCAGCTCCCCAGTGCTCTTCTCGCCGGTCGGCCGGCGTAGCTCGCTAAGCTCGCGGGGAACACCAACACGAATGTTCCCACAC
CACTCCATAACTGAGTCTGTGAACTATGATGTGAAAACGTTTGGATCTTCTCTTCCTGTTAAAGTCATGGAAGCCCTAACATTGGCTGAAGTCGATGACCAGCTG
ACCATTAACATAGATGAAGGTGGATGGGCTTGTCTGGTGTGCAAAGAGAAGCTCATTATTTGGAAGATTGCTCTGTCACCTATTACTAAGTTATCCGTTTGCAAA
GAACTTCAGCTGCCACCTAGTGATTTCCACTGGAGTGCCGACTTAGTGGCTCTTTCTTACTCTTCTCCCTCAGGTGAAGCACATTCTACTCAGGCTGTTGCTGTC
ATGGTTGCCACCAGAGAAGGATCTATCCGCTATTGGCCAAGCCTTGCTGGTGAAGATACCTACACAGAGGCTTTTGTAGATTCGGGAGGTGATAAGACTTACAGT
TTCCTAACAGCAGTGCAGGGAGGAAGTTTTATTTTGTCTTCATCAGGAAGCCAACTAATTCGGTTGATACCTGAGAGCTCAGGAAAGATTCATCAGCATATCCTG
CCTCAGGGGCAAGGCATGCTTTCAGGAATTGGTCGAAAAGTTTCTTCTCTTTTTGGAATTTTATCTCCTAGTAGTGATCTCACACTTTCAAGTGTTCTCTGGGAT
AGAGAGAGATCAAGCTTTTATAGCCTGACGAGTTCAAACATCAGTAAATGGGAATTAGATGATTCTTCAGAAAAGCATGCATACAGTTGGGATATAAATAGAGCC
CTGAAGGAAAACATTACCGATGCTATTTGGGGATCTGAAAGTAACTATGAAGCTATTAAAGAAGGAGTCAACATTCGATATTTGGACTTGAAGCAAAACTGTGAT
GGGCTGGTGATTTTGGCAGCAGCATGGCACTCAGCAGACAATCCATGTCTCATCTATTACTCTCTGATAACAATAGAAGATAATGGTTGCCAAATGTCAGATGCA
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>NUP133|55746|protein
MFPAAPSPRTPGTGSRRGPLAGLGPGSTPRTASRKGLPLGSAVSSPVLFSPVGRRSSLSSRGTPTRMFPHHSITESVNYDVKTFGSSLPVKVMEALTLAEVDDQL
TINIDEGGWACLVCKEKLIIWKIALSPITKLSVCKELQLPPSDFHWSADLVALSYSSPSGEAHSTQAVAVMVATREGSIRYWPSLAGEDTYTEAFVDSGGDKTYS
FLTAVQGGSFILSSSGSQLIRLIPESSGKIHQHILPQGQGMLSGIGRKVSSLFGILSPSSDLTLSSVLWDRERSSFYSLTSSNISKWELDDSSEKHAYSWDINRA
LKENITDAIWGSESNYEAIKEGVNIRYLDLKQNCDGLVILAAAWHSADNPCLIYYSLITIEDNGCQMSDAVTVEVTQYNPPFQSEDLILCQLTVPNFSNQTAYLY
NESAVYVCSTGTGKFSLPQEKIVFNAQGDSVLGAGACGGVPIIFSRNSGLVSITSRENVSILAEDLEGSLASSVAGPNSESMIFETTTKNETIAQEDKIKLLKAA
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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 (0) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top