AutismKB 2.0

Evidence Details for NCKAP5L


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Basic Information Top
Gene Symbol:NCKAP5L ( FLJ36581,KIAA1602,MGC129863 )
Gene Full Name: NCK-associated protein 5-like
Band: 12q13.12
Quick LinksEntrez ID:57701; OMIM: NA; Uniprot ID:NCK5L_HUMAN; ENSEMBL ID: ENSG00000167566; HGNC ID: 29321
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NCKAP5L|57701|nucleotide
ATGTCAGAGGCCATGGACCAGCCAGCTGGGGGTCCTGGAAACCCAAGGCCAGGAGAGGGTGATGATGGCAGCATGGAGCCAGGCACCTGCCAGGAGCTTCTGCAC
CGACTGCGGGAGCTGGAGGCAGAGAACTCGGCACTTGCCCAGGCCAACGAAAACCAGCGGGAGACTTATGAGCGCTGTCTGGACGAGGTTGCCAACCATGTGGTA
CAGGCGTTGCTGAACCAGAAGGACCTGCGAGAGGAGTGCATCAAGCTGAAGAAGAGAGTGTTTGACCTGGAACGGCAGAACCAGATGCTGAGTGCCCTGTTTCAG
CAGAAACTCCAGCTCACGACAGGCTCGCTCCCTCAGATCCCACTCACTCCACTCCAGCCACCATCAGAGCCACCAGCCTCCCCCTCCCTGAGCTCCACTGAGGGA
CCGGCTGCCCCGCTGCCTCTGGGGCACTGTGCTGGGCAGAGAGAGGTATGTTGGGAGCAGCAGCTGAGGCCAGGAGGCCCAGGCCCCCCAGCCGCCCCACCCCCA
GCGCTGGATGCCCTATCCCCGTTCCTTCGGAAGAAGGCCCAGATTCTGGAGGTGCTGAGAGCCCTGGAAGAGACTGACCCCTTGCTTCTCTGCTCACCTGCCACC
CCCTGGCGGCCTCCAGGCCAGGGGCCTGGCTCCCCAGAGCCCATCAACGGCGAGCTGTGTGGCCCGCCTCAGCCTGAACCCTCACCCTGGGCGCCCTGCCTGCTG
CTAGGCCCTGGCAACCTGGGAGGCCTGCTGCACTGGGAGCGCCTCTTGGGGGGTCTGGGAGGGGAAGAGGACACTGGGCGGCCCTGGGGTCCTAGCAGGGGACCT
CCTCAGGCCCAGGGCACCAGCTCTGGCCCAAACTGTGCCCCAGGCAGCAGCTCCTCCTCCTCTTCTGATGAGGCAGGTGACCCCAATGAGGCACCCAGCCCCGAC
ACCCTGCTCGGTGCCCTGGCCCGCAGACAGTTGAACCTGGGCCAGCTCCTTGAGGACACAGAGTCTTACCTACAGGCCTTCCTGGCCGGGGCTGCAGGCCCACTC
AATGGGGACCACCCAGGTCCTGGGCAGTCATCCTCCCCAGACCAGGCGCCCCCACAGCTGTCTAAGTCCAAAGGCCTCCCCAAGTCAGCTTGGGGTGGGGGTACC
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>NCKAP5L|57701|protein
MSEAMDQPAGGPGNPRPGEGDDGSMEPGTCQELLHRLRELEAENSALAQANENQRETYERCLDEVANHVVQALLNQKDLREECIKLKKRVFDLERQNQMLSALFQ
QKLQLTTGSLPQIPLTPLQPPSEPPASPSLSSTEGPAAPLPLGHCAGQREVCWEQQLRPGGPGPPAAPPPALDALSPFLRKKAQILEVLRALEETDPLLLCSPAT
PWRPPGQGPGSPEPINGELCGPPQPEPSPWAPCLLLGPGNLGGLLHWERLLGGLGGEEDTGRPWGPSRGPPQAQGTSSGPNCAPGSSSSSSSDEAGDPNEAPSPD
TLLGALARRQLNLGQLLEDTESYLQAFLAGAAGPLNGDHPGPGQSSSPDQAPPQLSKSKGLPKSAWGGGTPEAHRPGFGATSEGQGPLPFLSMFMGAGDAPLGSR
PGHPHSSSQVKSKLQIGPPSPGEAQGPLLPSPARGLKFLKLPPTSEKSPSPGGPQLSPQLPRNSRIPCRNSGSDGSPSPLLARRGLGGGELSPEGAQGLPTSPSP
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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 (1) 1 (1) 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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top