AutismKB 2.0

Evidence Details for CDHR1


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Basic Information Top
Gene Symbol:CDHR1 ( DKFZp434A132,KIAA1775,PCDH21,PRCAD )
Gene Full Name: cadherin-related family member 1
Band: 10q23.1
Quick LinksEntrez ID:92211; OMIM: 609502; Uniprot ID:CDHR1_HUMAN; ENSEMBL ID: ENSG00000148600; HGNC ID: 14550
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CDHR1|92211|nucleotide
ATGAGGCGCTGCCGGTGGGCCGCCCTGGCCCTGGGGCTGCTGCGCCTCTGCTTGGCTCAGGCCAACTTCGCCCCGCACTTCTTCGACAACGGGGTCGGCAGCACC
AACGGAAACATGGCTCTGTTCAGCCTCCCAGAGGACACCCCTGTAGGCTCTCACGTATACACCCTGAATGGGACAGACCCTGAGGGAGACCCCATCTCCTACCAC
ATCAGCTTTGACCCCAGCACTAGAAGCGTCTTTTCTGTTGACCCCACTTTTGGAAACATCACCCTGGTTGAAGAGCTGGACAGAGAGAGGGAAGATGAGATTGAA
GCCATCATCAGCATTTCTGATGGCCTGAATCTGGTGGCCGAAAAAGTCGTGATCCTGGTGACCGATGCCAATGATGAGGCGCCCAGGTTCATCCAGGAGCCTTAT
GTTGCCCTGGTTCCCGAGGACATACCTGCTGGGAGCATCATCTTTAAGGTCCATGCAGTGGACAGGGACACAGGCTCTGGAGGGAGTGTCACCTACTTCCTGCAG
AACCTGCACTCCCCATTTGCCGTGGACCGCCACAGCGGTGTGCTGCGCCTCCAGGCTGGGGCCACTCTGGACTACGAGAGGTCCCGGACCCACTACATCACCGTG
GTCGCCAAGGATGGCGGTGGGAGGCTTCATGGGGCTGATGTGGTGTTCTCAGCCACCACCACGGTCACGGTCAATGTGGAGGATGTTCAGGACATGGCCCCTGTC
TTCGTGGGCACACCCTACTATGGCTATGTGTACGAGGACACCCTTCCGGGCTCGGAGGTACTGAAGGTGGTCGCCATGGATGGAGACCGGGGCAAACCCAATCGA
ATTCTCTACAGCCTTGTAAATGGGAACGATGGAGCCTTTGAAATTAATGAGACATCTGGAGCCATCTCCATCACTCAGAGCCCGGCCCAGCTCCAGAGAGAGGTG
TATGAGCTGCATGTACAGGTGACTGAAATGAGCCCTGCGGGGAGCCCAGCTGCCCAGGCCACCGTCCCAGTCACCATCAGGATTGTGGACCTCAACAACCACCCG
CCAACATTCTATGGAGAGAGCGGACCCCAAAACAGGTTTGAGCTGTCCATGAATGAGCACCCACCCCAGGGAGAGATCCTGCGGGGCCTCAAGATCACCGTCAAT
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>CDHR1|92211|protein
MRRCRWAALALGLLRLCLAQANFAPHFFDNGVGSTNGNMALFSLPEDTPVGSHVYTLNGTDPEGDPISYHISFDPSTRSVFSVDPTFGNITLVEELDREREDEIE
AIISISDGLNLVAEKVVILVTDANDEAPRFIQEPYVALVPEDIPAGSIIFKVHAVDRDTGSGGSVTYFLQNLHSPFAVDRHSGVLRLQAGATLDYERSRTHYITV
VAKDGGGRLHGADVVFSATTTVTVNVEDVQDMAPVFVGTPYYGYVYEDTLPGSEVLKVVAMDGDRGKPNRILYSLVNGNDGAFEINETSGAISITQSPAQLQREV
YELHVQVTEMSPAGSPAAQATVPVTIRIVDLNNHPPTFYGESGPQNRFELSMNEHPPQGEILRGLKITVNDSDQGANAKFNLQLVGPRGIFRVVPQTVLNEAQVT
IIVENSAAIDFEKSKVLTFKLLAVEVNTPEKFSSTADVVIQLLDTNDNVPKFDSLYYVARIPENAPGGSSVVAVTAVDPDTGPWGEVKYSTYGTGADLFLIHPST
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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 (0) 0 (1) 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
Balciuniene, 2007 - aCGH, SNP microarrayautism 1 - 1 - - - -
Linkage Studies Top