AutismKB 2.0

Evidence Details for NUP205


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Basic Information Top
Gene Symbol:NUP205 ( C7orf14 )
Gene Full Name: nucleoporin 205kDa
Band: 7q33
Quick LinksEntrez ID:23165; OMIM: NA; Uniprot ID:NU205_HUMAN; ENSEMBL ID: ENSG00000155561; HGNC ID: 18658
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NUP205|23165|nucleotide
ATGGCGACGCCTTTGGCGGTAAATTCGGCTGCTAGTCTATGGGGTCCTTACAAAGACATTTGGCATAAAGTGGGAAATGCTCTTTGGAGAAGACAACCTGAAGCT
GTTCACCTTCTTGATAAGATTTTGAAGAAACACAAACCTGACTTCATCTCATTGTTCAAAAATCCGCCAAAAAATGTTCAACAGCATGAGAAGGTTCAGAAAGCC
AGTACAGAGGGAGTCGCCATTCAGGGTCAACAGGGAACTCGACTTCTTCCTGAACAGCTCATTAAAGAAGCCTTTATTCTCAGTGACCTTTTTGATATTGGAGAA
TTGGCAGCTGTTGAGCTTCTTCTTGCTGGAGAGCATCAACAGCCACATTTTCCTGGCCTTACCAGAGGATTAGTAGCTGTTCTTCTGTACTGGGATGGAAAGCGA
TGCATTGCGAATTCCTTGAAAGCCTTGATACAGTCTAGACGGGGAAAGACATGGACCCTAGAACTCAGTCCAGAGCTGGCTTCCATGACAACACGCTTTACAGAT
GAGCTGATGGAGCAAGGATTGACTTATAAAGTTCTTACGCTGGTGTCACAGATTGATGTGAATAATGAGTTTGAGAAACTACAGCGAGAGAGAGGTTTGGGCAGT
GAAAAACATCGCAAAGAGGTTTCTGATCTCATTAAGGAGTGCAGGCAGTCTCTTGCAGAAAGCCTTTTTGCCTGGGCTTGCCAGTCACCTTTAGGCAAAGAAGAC
ACTCTCCTCCTCATTGGACATTTGGAAAGAGTGACAGTTGAGGCTAATGGCTCACTGGATGCAGTGAATCTGGCTCTTCTTATGGCGCTTCTATACTGTTTTGAT
ATCAGTTTTATAGAGCAAAGCACAGAGGAACGAGATGATATGATTCATCAACTTCCACTGTTGACAGAAAAACAGTACATTGCAACAATTCACTCTCGTCTTCAG
GACTCACAGCTTTGGAAACTGCCTGGGCTCCAAGCCACTGTTAGACTTGCCTGGGCGCTGGCATTGAGGGGAATATCCCAGCTACCTGATGTGACAGCTCTGGCA
GAATTCACAGAGGCAGATGAAGCAATGGCAGAACTCGCAATTGCTGACAACGTTTTCCTGTTCCTCATGGAATCTGTAGTGGTATCAGAATACTTTTATCAGGAA
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>NUP205|23165|protein
MATPLAVNSAASLWGPYKDIWHKVGNALWRRQPEAVHLLDKILKKHKPDFISLFKNPPKNVQQHEKVQKASTEGVAIQGQQGTRLLPEQLIKEAFILSDLFDIGE
LAAVELLLAGEHQQPHFPGLTRGLVAVLLYWDGKRCIANSLKALIQSRRGKTWTLELSPELASMTTRFTDELMEQGLTYKVLTLVSQIDVNNEFEKLQRERGLGS
EKHRKEVSDLIKECRQSLAESLFAWACQSPLGKEDTLLLIGHLERVTVEANGSLDAVNLALLMALLYCFDISFIEQSTEERDDMIHQLPLLTEKQYIATIHSRLQ
DSQLWKLPGLQATVRLAWALALRGISQLPDVTALAEFTEADEAMAELAIADNVFLFLMESVVVSEYFYQEEFYIRRVHNLITDFLALMPMKVKQLRNRADEDARM
IHMSMQMGNEPPISLRRDLEHLMLLIGELYKKNPFHLELALEYWCPTEPLQTPTIMGSYLGVAHQRPPQRQVVLSKFVRQMGDLLPPTIYIPYLKMLQGLANGPQ
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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