AutismKB 2.0

Evidence Details for NCKAP5


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Basic Information Top
Gene Symbol:NCKAP5 ( ERIH1,ERIH2,FLJ34870,NAP5 )
Gene Full Name: NCK-associated protein 5
Band: 2q21.2
Quick LinksEntrez ID:344148; OMIM: 608789; Uniprot ID:NCKP5_HUMAN; ENSEMBL ID: ENSG00000176771; HGNC ID: 29847
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NCKAP5|344148|nucleotide
ATGGAGGGAAAGAGACAGCTTGAGAAAAGGGACTTTGGAAAAAGGCTGTCTCTAGACAGCAGTCTTGTGGAATACATGGACTCCAATAAATACATTGAGCATCTG
CTGACTCAGCTTGAGGAGCAACACAGGAGTCTCTGGAGGGAGAAGTTGGCAGTGGCCCGACTACAGCGAGAAGTTGCCCAAAGAACAAGTGAGGGGGCCATGCAT
GAGAAGCTGATACATGAACTGGAAGAGGAGAGACACTTACGTCTTCAAAGCGAGAAGCGGTTGCAGGAGGTGACCCTAGAGTCTGAACGCAACAGAATTCAGATG
CGTAGCTTGCAGCAGCAGTTCTCCAGGATGGAAGAAACAGTACGAAATCTATTGCAGAGTCAAGGATCTCCAGAGCAGAAAAAAGAAGAAACTGTTAATATAATG
GTCTATCAGGAAAAGCTGTCAGAGGAAGAGAGAAAACATAAGGAAGCTTTGGAAGATCTTCACATGGTGGTTGATGAGGATTCGAGGAGTGAAAGCAGCAGTACA
GATGAGGGAAAAGAAAAGACCAAATTGCTATTAGAGAGATTGAAAGCTCTAGAGGCAGAGAATTCAGCGTTGGCTTTGGAGAATGAAAATCAAAGGGAACAATAT
GAGCGATGTCTTGATGAGGTAGCCAACCAAGTTGTTCAAGCTCTGCTTACTCAAAAGGATCTAAGAGAGGAATGTGTGAAGTTGAAAACAAGAGTGTTTGATTTG
GAACAGCAGAATCGAACACTAAGCATCCTATTCCAACAGCGAGTCAGACCCACTTCTGATCTGCTCCTCCAGAAACTTCACTCACGTCTCTTGGATCTTTCATCT
GGAGATTTGCTTTCAGAGGTGGAAAGAAACCGAAGTCTGACACAGTCACGAACTGATGCTGAGGTGCACGAACACCAACTAAATACAAAATCGGCCTTGAAATGC
CCTGGCTTGGGGGCTGTCATCCCTGGTCATCTCTGTCCTCGAAACAGCTACAGTAGCAGCAGTGAACTGTCTCTTTCAAGCACCTGCAGCGAGTACTCCAGTGGC
TCCTCCTACACGTGGCACGATGGGAAGAACCTCAGGAAAAGGCAATCATCACAAAACTGGGATAAAAGGCTAAGTATTGATTCTTCGCTCCCAAGTGGCTTTGCT
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>NCKAP5|344148|protein
MEGKRQLEKRDFGKRLSLDSSLVEYMDSNKYIEHLLTQLEEQHRSLWREKLAVARLQREVAQRTSEGAMHEKLIHELEEERHLRLQSEKRLQEVTLESERNRIQM
RSLQQQFSRMEETVRNLLQSQGSPEQKKEETVNIMVYQEKLSEEERKHKEALEDLHMVVDEDSRSESSSTDEGKEKTKLLLERLKALEAENSALALENENQREQY
ERCLDEVANQVVQALLTQKDLREECVKLKTRVFDLEQQNRTLSILFQQRVRPTSDLLLQKLHSRLLDLSSGDLLSEVERNRSLTQSRTDAEVHEHQLNTKSALKC
PGLGAVIPGHLCPRNSYSSSSELSLSSTCSEYSSGSSYTWHDGKNLRKRQSSQNWDKRLSIDSSLPSGFASPTNELPPTRIKESHILEGLRKLQKRKVLLEPPSV
ITKWGYKDCMNSNEGIYSPGIKSSSLKEYPPCKTADLGSPCKEPHKTFVYDLDSHVDADDDPSTLALLQAVPNQSCRPHGSKLTHSVSDSLFGWETNRKHFLEGT
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top