AutismKB 2.0

Evidence Details for CNDP2


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Basic Information Top
Gene Symbol:CNDP2 ( CN2,CPGL,FLJ10830,HsT2298,PEPA )
Gene Full Name: CNDP dipeptidase 2 (metallopeptidase M20 family)
Band: 18q22.3
Quick LinksEntrez ID:55748; OMIM: 169800; Uniprot ID:CNDP2_HUMAN; ENSEMBL ID: ENSG00000133313; HGNC ID: 24437
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CNDP2|55748|nucleotide
ATGGCGGCCCTCACTACCCTGTTTAAGTACATAGATGAAAATCAGGATCGCTACATTAAGAAACTCGCAAAATGGGTGGCTATCCAGAGTGTGTCTGCGTGGCCG
GAGAAGAGAGGCGAAATCAGGAGGATGATGGAAGTTGCTGCTGCAGATGTTAAGCAGTTGGGGGGCTCTGTGGAACTGGTGGATATCGGAAAACAAAAGGAGATT
CCTGTCAACGTCCGATTCTGCCTCGAAGGCATGGAGGAGTCAGGCTCTGAGGGCCTAGACGAGCTGATTTTTGCCCGGAAAGACACATTCTTTAAGGATGTGGAC
TATGTCTGCATTTCTGACAATTACTGGCTGGGAAAGAAGAAGCCCTGCATCACCTACGGCCTCAGGGGCATTTGCTACTTTTTCATCGAGGTGGAGTGCAGCAAC
AAAGACCTCCATTCTGGGGTGTACGGGGGCTCGGTGCATGAGGCCATGACTGATCTCATTTTGCTGATGGGCTCTTTGGTGGACAAGAGGGGGAACATCCTGATC
CCCGGCATTAACGAGGCCGTGGCCGCCGTCACGGAAGAGGAGCACAAGCTGTACGACGACATCGACTTTGACATAGAGGAGTTTGCCAAGGATGTGGGGGCGCAG
ATCCTCCTGCACAGCCACAAGAAAGACATCCTCATGCACCGATGGCGGTACCCGTCTCTGTCCCTCCATGGCATCGAAGGCGCCTTCTCTGGGTCTGGGGCCAAG
ACCGTGATTCCCAGGAAGGTGGTTGGCAAGTTCTCCATCAGGCTCGTGCCGAACATGACTCCTGAAGTCGTCGGCGAGCAGGTCACAAGCTACCTAACTAAGAAG
TTTGCTGAACTACGCAGCCCCAATGAGTTCAAGGTGTACATGGGCCACGGTGGGAAGCCCTGGGTCTCCGACTTCAGTCACCCTCATTACCTGGCTGGGAGAAGA
GCCATGAAGACAGTTTTTGGTGTTGAGCCAGACTTGACCAGGGAAGGCGGCAGTATTCCCGTGACCTTGACCTTTCAGGAGGCCACGGGCAAGAACGTCATGCTG
CTGCCTGTGGGGTCAGCGGATGACGGAGCCCACTCCCAGAATGAAAAGCTCAACAGGTATAACTACATAGAGGGAACCAAGATGCTGGCCGCGTACCTGTATGAG
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>CNDP2|55748|protein
MAALTTLFKYIDENQDRYIKKLAKWVAIQSVSAWPEKRGEIRRMMEVAAADVKQLGGSVELVDIGKQKEIPVNVRFCLEGMEESGSEGLDELIFARKDTFFKDVD
YVCISDNYWLGKKKPCITYGLRGICYFFIEVECSNKDLHSGVYGGSVHEAMTDLILLMGSLVDKRGNILIPGINEAVAAVTEEEHKLYDDIDFDIEEFAKDVGAQ
ILLHSHKKDILMHRWRYPSLSLHGIEGAFSGSGAKTVIPRKVVGKFSIRLVPNMTPEVVGEQVTSYLTKKFAELRSPNEFKVYMGHGGKPWVSDFSHPHYLAGRR
AMKTVFGVEPDLTREGGSIPVTLTFQEATGKNVMLLPVGSADDGAHSQNEKLNRYNYIEGTKMLAAYLYEVSQLKD

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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 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (5)
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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top