AutismKB 2.0

Evidence Details for NUP98


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Basic Information Top
Gene Symbol:NUP98 ( ADIR2,NUP196,NUP96 )
Gene Full Name: nucleoporin 98kDa
Band: 11p15.4
Quick LinksEntrez ID:4928; OMIM: 601021; Uniprot ID:NUP98_HUMAN; ENSEMBL ID: ENSG00000110713; HGNC ID: 8068
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NUP98|4928|nucleotide
ATGTTTAACAAATCATTTGGAACACCCTTTGGGGGTGGCACAGGTGGCTTTGGCACAACTTCAACATTTGGACAGAATACTGGCTTTGGCACTACTAGTGGAGGG
GCATTTGGAACATCTGCATTTGGTTCTAGCAACAATACTGGAGGCCTCTTTGGAAATTCACAGACTAAACCAGGAGGATTGTTTGGAACCAGTTCATTTAGCCAG
CCAGCTACCTCCACAAGCACTGGCTTTGGGTTTGGTACGTCAACAGGAACAGCAAATACCTTGTTTGGAACTGCAAGCACAGGGACCAGTCTCTTCTCATCCCAA
AACAATGCCTTTGCACAAAATAAACCAACTGGCTTTGGCAATTTTGGAACCAGTACTAGCAGTGGAGGACTCTTTGGAACCACAAATACCACCTCTAATCCTTTT
GGCAGCACATCTGGCTCCCTCTTTGGGCCAAGTAGTTTTACAGCTGCTCCTACTGGGACTACTATTAAATTTAACCCTCCAACTGGTACAGATACTATGGTCAAA
GCTGGAGTTAGCACTAACATAAGTACCAAGCACCAGTGTATTACTGCTATGAAAGAATATGAAAGCAAGTCACTAGAGGAACTTCGTTTAGAGGATTATCAGGCT
AACAGGAAGGGCCCACAGAACCAGGTGGGAGCAGGTACCACAACTGGCTTGTTTGGGTCTTCTCCAGCCACTTCCAGCGCAACAGGACTCTTCAGCTCCTCCACC
ACTAATTCAGGCTTTGCATATGGTCAGAACAAAACTGCCTTTGGAACTAGTACAACTGGATTTGGAACAAATCCAGGTGGTCTCTTTGGCCAACAGAATCAGCAG
ACTACCAGCCTCTTCAGCAAACCATTTGGCCAGGCTACAACCACCCAGAACACTGGCTTTTCCTTTGGTAATACCAGCACCATAGGACAGCCAAGCACCAACACC
ATGGGATTATTTGGAGTAACCCAAGCCTCACAGCCTGGAGGTCTTTTTGGGACAGCTACAAACACCAGCACTGGGACAGCATTTGGAACAGGAACAGGTCTCTTT
GGGCAGACCAATACTGGATTTGGTGCTGTTGGTTCGACCCTGTTTGGCAATAACAAGCTTACTACATTTGGAAGCAGCACAACCAGTGCACCTTCATTTGGTACA
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>NUP98|4928|protein
MFNKSFGTPFGGGTGGFGTTSTFGQNTGFGTTSGGAFGTSAFGSSNNTGGLFGNSQTKPGGLFGTSSFSQPATSTSTGFGFGTSTGTANTLFGTASTGTSLFSSQ
NNAFAQNKPTGFGNFGTSTSSGGLFGTTNTTSNPFGSTSGSLFGPSSFTAAPTGTTIKFNPPTGTDTMVKAGVSTNISTKHQCITAMKEYESKSLEELRLEDYQA
NRKGPQNQVGAGTTTGLFGSSPATSSATGLFSSSTTNSGFAYGQNKTAFGTSTTGFGTNPGGLFGQQNQQTTSLFSKPFGQATTTQNTGFSFGNTSTIGQPSTNT
MGLFGVTQASQPGGLFGTATNTSTGTAFGTGTGLFGQTNTGFGAVGSTLFGNNKLTTFGSSTTSAPSFGTTSGGLFGNKPTLTLGTNTNTSNFGFGTNTSGNSIF
GSKPAPGTLGTGLGAGFGTALGAGQASLFGNNQPKIGGPLGTGAFGAPGFNTTTATLGFGAPQAPVALTDPNASAAQQAVLQQHINSLTYSPFGDSPLFRNPMSD
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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 (1) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top