AutismKB 2.0

Evidence Details for NUP50


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Basic Information Top
Gene Symbol:NUP50 ( MGC39961,NPAP60,NPAP60L )
Gene Full Name: nucleoporin 50kDa
Band: 22q13.31
Quick LinksEntrez ID:10762; OMIM: 604646; Uniprot ID:NUP50_HUMAN; ENSEMBL ID: ENSG00000093000; HGNC ID: 8065
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NUP50|10762|nucleotide
ATGGCCAAAAGAAATGCCGAGAAGGAACTGACAGATAGGAATTGGGATCAAGAAGATGAAGCTGAAGAGGTGGGAACATTCTCCATGGCCAGTGAGGAAGTCTTG
AAGAATAGAGCCATAAAGAAAGCAAAGCGCAGAAATGTTGGATTTGAATCTGACACTGGAGGAGCCTTTAAAGGTTTTAAAGGTTTGGTGGTACCTTCTGGAGGA
GGACGCTTTTCTGGATTTGGTAGTGGCGCTGGAGGGAAGCCTTTGGAAGGACTGTCGAATGGAAACAACATAACCAGTGCCCCTCCCTTCGCCAGTGCAAAGGCA
GCGGCAGATCCCAAGGTAGCCTTTGGTTCTCTTGCTGCAAATGGCCCTACCACCTTGGTTGATAAAGTTTCAAATCCCAAAACTAATGGGGACAGTCAGCAGCCC
TCCTCCTCTGGCCTTGCTTCCAGTAAAGCTTGTGTCGGAAATGCCTATCACAAGCAGTTGGCCGCCTTGAACTGCTCCGTGCGGGATTGGATAGTGAAGCACGTG
AATACAAACCCCCTCTGTGATCTGACACCTATCTTTAAAGACTATGAGAAATATTTAGCAAACATTGAACAGCAACACGGGAACAGTGGCAGGAATTCTGAAAGT
GAATCTAACAAAGTGGCAGCTGAAACACAGTCTCCTTCCCTTTTTGGCTCAACAAAATTACAGCAAGAGTCAACGTTTTTGTTTCATGGCAACAAAACTGAAGAT
ACACCTGACAAGAAGATGGAGGTGGCATCTGAAAAGAAAACGGACCCATCATCACTAGGAGCGACAAGTGCCTCATTTAATTTCGGCAAGAAAGTTGATAGCTCT
GTTTTGGGCTCATTAAGCTCTGTCCCCCTGACTGGATTTTCTTTCTCCCCTGGAAACTCCAGTTTATTTGGCAAAGATACTACCCAGAGTAAACCAGTCTCTTCA
CCATTTCCCACTAAACCATTGGAGGGCCAAGCAGAAGGTGACAGTGGTGAATGCAAAGGTGGAGATGAAGAAGAGAATGATGAGCCACCCAAAGTAGTAGTTACC
GAAGTAAAAGAAGAAGATGCTTTTTACTCCAAAAAGTGTAAACTGTTTTACAAGAAAGACAATGAGTTTAAAGAGAAAGGCATAGGTACTCTGCATTTAAAACCT
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>NUP50|10762|protein
MAKRNAEKELTDRNWDQEDEAEEVGTFSMASEEVLKNRAIKKAKRRNVGFESDTGGAFKGFKGLVVPSGGGRFSGFGSGAGGKPLEGLSNGNNITSAPPFASAKA
AADPKVAFGSLAANGPTTLVDKVSNPKTNGDSQQPSSSGLASSKACVGNAYHKQLAALNCSVRDWIVKHVNTNPLCDLTPIFKDYEKYLANIEQQHGNSGRNSES
ESNKVAAETQSPSLFGSTKLQQESTFLFHGNKTEDTPDKKMEVASEKKTDPSSLGATSASFNFGKKVDSSVLGSLSSVPLTGFSFSPGNSSLFGKDTTQSKPVSS
PFPTKPLEGQAEGDSGECKGGDEEENDEPPKVVVTEVKEEDAFYSKKCKLFYKKDNEFKEKGIGTLHLKPTANQKTQLLVRADTNLGNILLNVLIPPNMPCTRTG
KNNVLIVCVPNPPIDEKNATMPVTMLIRVKTSEDADELHKILLEKKDA
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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) 1 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (4)
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
Prasad, 2000 - FISHautism - - - - 1 - 1
Goizet, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Linkage Studies Top