AutismKB 2.0

Evidence Details for NCKAP1L


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Basic Information Top
Gene Symbol:NCKAP1L ( HEM1 )
Gene Full Name: NCK-associated protein 1-like
Band: 12q13.13-q13.2
Quick LinksEntrez ID:3071; OMIM: 141180; Uniprot ID:NCKPL_HUMAN; ENSEMBL ID: ENSG00000123338; HGNC ID: 4862
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NCKAP1L|3071|nucleotide
ATGGAACCATCTCTCAAGTATATCAACAAGAAATTTCCCAACATAGATGTCCGAAACAGCACGCAACATTTAGGACCAGTACATCGTGAAAAAGCCGAGATAATT
AGATTCCTCACCAACTACTACCAGTCATTTGTGGATGTCATGGAATTTCGGGATCATGTATATGAACTTCTCAACACCATTGATGCCTGCCAGTGCCATTTTGAT
ATCAATCTCAACTTTGATTTCACTCGGAGTTACCTGGACTTGATTGTAACTTACACCTCAGTCATTTTACTTCTGTCACGGATTGAAGATCGGCGGATACTCATT
GGCATGTACAATTGTGCCCATGAGATGCTGCATGGGCATGGTGACCCCAGTTTTGCCCGTCTGGGTCAGATGGTCTTGGAGTATGACCACCCTCTGAAGAAGCTG
ACAGAAGAGTTTGGGCCTCACACAAAGGCTGTGAGTGGAGCCCTCCTCTCTTTGCATTTCCTCTTTGTCCGAAGAAACCAGGGGGCTGAGCAGTGGCGCAGTGCC
CAACTTCTAAGCCTCATCAGCAACCCCCCAGCCATGATTAACCCTGCTAATTCAGATACAATGGCCTGTGAGTATCTGTCTGTGGAAGTAATGGAGCGCTGGATT
ATCATTGGGTTTCTTCTTTGTCATGGGTGCCTCAACTCCAATAGCCAGTGCCAGAAGCTGTGGAAGCTGTGTCTGCAGGGCTCCCTCTACATCACCCTTATCCGT
GAGGATGTGCTGCAGGTGCACAAAGTCACCGAGGACCTGTTTAGCAGTTTGAAAGGGTATGGCAAGAGAGTGGCAGACATAAAGGAGAGCAAGGAACATGTAATT
GCAAACAGTGGCCAGTTTCATTGTCAACGGCGGCAATTTCTGCGGATGGCAGTGAAGGAGCTGGAGACTGTGTTGGCTGATGAACCGGGACTACTGGGTCCTAAG
GCTCTTTTTGCTTTCATGGCCCTGTCCTTCATTCGTGATGAGGTCACCTGGCTGGTTCGCCACACAGAGAATGTCACCAAGACAAAGACACCTGAGGACTATGCT
GACTCGAGCATTGCAGAGCTACTTTTCTTGTTGGAGGGGATTAGGTCTCTGGTCCGAAGACACATCAAAGTGATACAGCAATACCACCTTCAGTACTTGGCAAGA
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>NCKAP1L|3071|protein
MEPSLKYINKKFPNIDVRNSTQHLGPVHREKAEIIRFLTNYYQSFVDVMEFRDHVYELLNTIDACQCHFDINLNFDFTRSYLDLIVTYTSVILLLSRIEDRRILI
GMYNCAHEMLHGHGDPSFARLGQMVLEYDHPLKKLTEEFGPHTKAVSGALLSLHFLFVRRNQGAEQWRSAQLLSLISNPPAMINPANSDTMACEYLSVEVMERWI
IIGFLLCHGCLNSNSQCQKLWKLCLQGSLYITLIREDVLQVHKVTEDLFSSLKGYGKRVADIKESKEHVIANSGQFHCQRRQFLRMAVKELETVLADEPGLLGPK
ALFAFMALSFIRDEVTWLVRHTENVTKTKTPEDYADSSIAELLFLLEGIRSLVRRHIKVIQQYHLQYLARFDALVLSDIIQNLSVCPEEESIIMSSFVSILSSLN
LKQVDNGEKFEFSGLRLDWFRLQAYTSVAKAPLHLHENPDLAKVMNLIVFHSRMLDSVEKLLVETSDLSTFCFHLRIFEKMFAMTLEESAMLRYAIAFPLICAHF
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (2)
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