AutismKB 2.0

Evidence Details for NCKAP1


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Basic Information Top
Gene Symbol:NCKAP1 ( FLJ11291,HEM2,KIAA0587,MGC8981,NAP1,NAP125 )
Gene Full Name: NCK-associated protein 1
Band: 2q32.1
Quick LinksEntrez ID:10787; OMIM: 604891; Uniprot ID:NCKP1_HUMAN; ENSEMBL ID: ENSG00000061676; HGNC ID: 7666
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NCKAP1|10787|nucleotide
ATGTCGCGCTCAGTGCTGCAGCCCAGTCAGCAGAAGCTGGCGGAGAAGCTCACCATCCTCAACGACCGGGGCGTCGGCATGCTCACCCGCCTCTACAACATCAAG
AAGGCATGTGGAGACCCCAAGGCAAAACCATCCTATCTTATCGACAAAAACCTGGAATCTGCTGTGAAATTCATAGTCAGAAAATTCCCTGCTGTAGAAACCCGC
AACAACAATCAACAGCTTGCACAACTACAGAAAGAAAAATCAGAGATTCTGAAAAATCTGGCATTATATTACTTCACATTTGTAGATGTTATGGAATTTAAGGAC
CATGTTTGTGAATTGCTGAATACTATTGACGTTTGCCAAGTCTTCTTTGATATTACTGTAAACTTTGATTTAACAAAGAACTACTTAGATTTAATTATAACCTAT
ACAACACTAATGATACTGCTGTCTCGAATTGAAGAAAGGAAGGCAATCATTGGATTATACAACTATGCCCATGAAATGACTCATGGAGCAAGTGACAGAGAATAC
CCACGCCTTGGCCAGATGATTGTGGATTATGAAAACCCTTTAAAGAAGATGATGGAAGAATTTGTACCCCATAGCAAGTCTCTTTCAGATGCACTAATTTCTCTT
CAAATGGTATATCCTCGAAGGAATCTTTCAGCTGACCAGTGGAGAAATGCCCAGTTATTGAGCCTCATCAGTGCACCTAGTACAATGCTTAATCCAGCACAGTCC
GACACTATGCCTTGTGAATACCTCTCTTTGGATGCAATGGAAAAGTGGATTATCTTTGGCTTTATTTTGTGCCATGGGATCCTAAATACTGACGCTACAGCACTG
AACCTTTGGAAACTAGCTCTTCAAAGTAGCTCTTGCCTCTCTCTCTTTCGGGATGAAGTTTTCCACATTCACAAAGCTGCAGAAGACTTATTTGTAAACATACGA
GGCTATAATAAACGTATTAATGACATAAGAGAATGCAAGGAGGCAGCCGTGTCACATGCTGGTTCAATGCACAGAGAAAGACGCAAGTTTTTAAGATCTGCACTG
AAGGAATTGGCTACTGTCCTCTCTGATCAACCTGGATTGCTAGGTCCCAAGGCACTTTTTGTTTTTATGGCATTATCCTTTGCCCGTGATGAAATCATCTGGCTA
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>NCKAP1|10787|protein
MSRSVLQPSQQKLAEKLTILNDRGVGMLTRLYNIKKACGDPKAKPSYLIDKNLESAVKFIVRKFPAVETRNNNQQLAQLQKEKSEILKNLALYYFTFVDVMEFKD
HVCELLNTIDVCQVFFDITVNFDLTKNYLDLIITYTTLMILLSRIEERKAIIGLYNYAHEMTHGASDREYPRLGQMIVDYENPLKKMMEEFVPHSKSLSDALISL
QMVYPRRNLSADQWRNAQLLSLISAPSTMLNPAQSDTMPCEYLSLDAMEKWIIFGFILCHGILNTDATALNLWKLALQSSSCLSLFRDEVFHIHKAAEDLFVNIR
GYNKRINDIRECKEAAVSHAGSMHRERRKFLRSALKELATVLSDQPGLLGPKALFVFMALSFARDEIIWLLRHADNMPKKSADDFIDKHIAELIFYMEELRAHVR
KYGPVMQRYYVQYLSGFDAVVLNELVQNLSVCPEDESIIMSSFVNTMTSLSVKQVEDGEVFDFRGMRLDWFRLQAYTSVSKASLGLADHRELGKMMNTIIFHTKM
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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) 1 (1) 0 (0) 0 (0) 0 (3) 0 (0) 1 (1) 0 (0) 12 (7)
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
Gallagher, 2003 - Chromosomal analysis of G-bandautism - - - - 1 - 1
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top