AutismKB 2.0

Evidence Details for NCAPD3


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Basic Information Top
Gene Symbol:NCAPD3 ( CAP-D3,FLJ42888,KIAA0056,MGC104671,hCAP-D3,hHCP-6,hcp-6 )
Gene Full Name: non-SMC condensin II complex, subunit D3
Band: 11q25
Quick LinksEntrez ID:23310; OMIM: 609276; Uniprot ID:CNDD3_HUMAN; ENSEMBL ID: ENSG00000151503; HGNC ID: 28952
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NCAPD3|23310|nucleotide
ATGGTGGCGTTGCGGGGCCTTGGTAGCGGCCTGCAGCCCTGGTGTCCGCTGGATCTTAGACTCGAATGGGTTGACACAGTGTGGGAACTGGATTTCACAGAGACT
GAGCCTTTGGATCCCAGCATAGAAGCAGAGATCATAGAGACTGGATTGGCTGCATTCACAAAACTCTATGAAAGCCTTTTACCCTTTGCTACTGGAGAACATGGA
TCTATGGAGAGTATCTGGACCTTCTTCATTGAGAACAATGTTTCCCATAGTACACTGGTGGCATTGTTCTATCATTTTGTTCAAATAGTTCATAAGAAGAATGTC
AGTGTACAGTATCGAGAATATGGCCTTCATGCCGCTGGGCTTTACTTTTTGCTACTAGAAGTACCAGGCAGTGTAGCCAATCAAGTATTCCACCCAGTGATGTTT
GACAAATGCATTCAGACTCTAAAGAAGAGCTGGCCCCAGGAATCTAACTTGAATCGGAAAAGAAAGAAAGAACAGCCTAAGAGCTCTCAGGCTAACCCCGGGAGG
CATAGAAAAAGGGGAAAGCCACCCAGGAGAGAAGATATTGAGATGGATGAAATTATAGAAGAACAAGAAGATGAGAATATTTGTTTTTCTGCCCGGGACCTTTCT
CAAATTCGAAATGCCATCTTTCACCTTTTAAAGAATTTTTTAAGGCTTCTGCCAAAGTTTTCCTTGAAAGAAAAGCCACAATGTGTACAGAATTGTATAGAGGTC
TTTGTTTCATTAACTAATTTTGAGCCAGTTCTTCATGAATGTCATGTTACACAAGCCAGAGCTCTTAACCAAGCAAAATACATACCAGAACTGGCTTATTATGGA
TTGTATTTGCTGTGCTCTCCCATTCATGGAGAAGGAGATAAGGTCATCAGTTGTGTTTTCCATCAAATGCTCAGTGTAATATTAATGTTAGAAGTTGGTGAAGGA
TCCCATCGTGCCCCCCTTGCTGTTACCTCCCAAGTCATCAACTGTAGAAACCAGGCGGTCCAGTTTATCAGCGCCCTTGTGGATGAATTAAAGGAGAGTATATTC
CCAGTCGTCCGTATCTTACTGCAGCACATCTGTGCCAAGGTGGTAGATAAATCAGAGTATCGTACTTTTGCAGCCCAGTCCCTAGTCCAGCTGCTCAGTAAACTT
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>NCAPD3|23310|protein
MVALRGLGSGLQPWCPLDLRLEWVDTVWELDFTETEPLDPSIEAEIIETGLAAFTKLYESLLPFATGEHGSMESIWTFFIENNVSHSTLVALFYHFVQIVHKKNV
SVQYREYGLHAAGLYFLLLEVPGSVANQVFHPVMFDKCIQTLKKSWPQESNLNRKRKKEQPKSSQANPGRHRKRGKPPRREDIEMDEIIEEQEDENICFSARDLS
QIRNAIFHLLKNFLRLLPKFSLKEKPQCVQNCIEVFVSLTNFEPVLHECHVTQARALNQAKYIPELAYYGLYLLCSPIHGEGDKVISCVFHQMLSVILMLEVGEG
SHRAPLAVTSQVINCRNQAVQFISALVDELKESIFPVVRILLQHICAKVVDKSEYRTFAAQSLVQLLSKLPCGEYAMFIAWLYKYSRSSKIPHRVFTLDVVLALL
ELPEREVDNTLSLEHQKFLKHKFLVQEIMFDRCLDKAPTVRSKALSSFAHCLELTVTSASESILELLINSPTFSVIESHPGTLLRNSSAFSYQRQTSNRSEPSGE
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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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top