AutismKB 2.0

Evidence Details for NOP14


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Basic Information Top
Gene Symbol:NOP14 ( C4orf9,NOL14,RES425 )
Gene Full Name: NOP14 nucleolar protein homolog (yeast)
Band: 4p16.3
Quick LinksEntrez ID:8602; OMIM: 611526; Uniprot ID:NOP14_HUMAN; ENSEMBL ID: ENSG00000087269; HGNC ID: 16821
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NOP14|8602|nucleotide
ATGGCGAAGGCGAAGAAGGTCGGGGCGCGAAGGAAGGCCTCCGGGGCGCCGGCGGGAGCGCGAGGGGGCCCGGCGAAGGCCAACTCCAATCCGTTCGAGGTGAAA
GTTAACAGGCAGAAGTTCCAGATCCTGGGCCGGAAGACGCGCCACGACGTGGGACTGCCCGGGGTGTCTCGCGCACGGGCCCTCAGGAAGCGTACACAGACTTTA
CTAAAAGAGTACAAAGAAAGGGATAAATCCAATGTATTCAGAGATAAACGCTTCGGAGAATACAACAGCAACATGAGCCCCGAGGAGAAGATGATGAAGAGGTTT
GCTCTGGAACAGCAGCGACATCATGAGAAAAAAAGCATCTACAATCTAAATGAAGATGAAGAATTGACTCATTATGGCCAGTCTTTGGCAGACATCGAGAAGCAT
AATGACATTGTGGACAGTGACAGCGATGCTGAGGATCGAGGAACGTTGTCTGCTGAGCTGACTGCTGCCCACTTTGGAGGAGGCGGTGGGCTCCTTCACAAGAAG
ACTCAACAGGAAGGCGAGGAGCGGGAGAAACCGAAGTCCCGGAAAGAGCTGATTGAAGAGCTCATTGCCAAGTCAAAACAAGAGAAGAGGGAGAGACAAGCTCAA
CGAGAAGATGCCCTCGAGCTCACGGAGAAGCTAGACCAAGACTGGAAAGAAATTCAGACTCTCCTGTCCCACAAAACTCCCAAGTCAGAGAACAGAGACAAAAAG
GAAAAACCCAAGCCCGATGCATATGACATGATGGTTCGCGAGCTTGGCTTTGAAATGAAGGCGCAGCCCTCTAACAGGATGAAGACGGAGGCAGAATTGGCAAAG
GAAGAGCAGGAGCACCTCAGGAAGCTGGAGGCTGAGAGACTTCGAAGAATGCTTGGAAAGGATGAGGATGAAAATGTTAAGAAACCAAAACATATGTCAGCAGAT
GATCTGAATGATGGCTTCGTGCTAGATAAAGATGACAGGCGTTTGCTTTCCTACAAAGATGGAAAGATGAATGTCGAGGAAGATGTCCAGGAAGAGCAAAGCAAG
GAAGCCAGTGACCCTGAGAGCAACGAGGAAGAAGGTGACAGTTCAGGCGGGGAGGACACAGAGGAGAGCGACAGCCCAGATAGCCACTTGGACCTGGAATCCAAC
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>NOP14|8602|protein
MAKAKKVGARRKASGAPAGARGGPAKANSNPFEVKVNRQKFQILGRKTRHDVGLPGVSRARALRKRTQTLLKEYKERDKSNVFRDKRFGEYNSNMSPEEKMMKRF
ALEQQRHHEKKSIYNLNEDEELTHYGQSLADIEKHNDIVDSDSDAEDRGTLSAELTAAHFGGGGGLLHKKTQQEGEEREKPKSRKELIEELIAKSKQEKRERQAQ
REDALELTEKLDQDWKEIQTLLSHKTPKSENRDKKEKPKPDAYDMMVRELGFEMKAQPSNRMKTEAELAKEEQEHLRKLEAERLRRMLGKDEDENVKKPKHMSAD
DLNDGFVLDKDDRRLLSYKDGKMNVEEDVQEEQSKEASDPESNEEEGDSSGGEDTEESDSPDSHLDLESNVESEEENEKPAKEQRQTPGKGLISGKERAGKATRD
ELPYTFAAPESYEELRSLLLGRSMEEQLLVVERIQKCNHPSLAEGNKAKLEKLFGFLLEYVGDLATDDPPDLTVIDKLVVHLYHLCQMFPESASDAIKFVLRDAM
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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 (3) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (5)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top