AutismKB 2.0

Evidence Details for CLDN3


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Basic Information Top
Gene Symbol:CLDN3 ( C7orf1,CPE-R2,CPETR2,HRVP1,RVP1 )
Gene Full Name: claudin 3
Band: 7q11.23
Quick LinksEntrez ID:1365; OMIM: 602910; Uniprot ID:CLD3_HUMAN; ENSEMBL ID: ENSG00000165215; HGNC ID: 2045
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CLDN3|1365|nucleotide
ATGTCCATGGGCCTGGAGATCACGGGCACCGCGCTGGCCGTGCTGGGCTGGCTGGGCACCATCGTGTGCTGCGCGTTGCCCATGTGGCGCGTGTCGGCCTTCATC
GGCAGCAACATCATCACGTCGCAGAACATCTGGGAGGGCCTGTGGATGAACTGCGTGGTGCAGAGCACCGGCCAGATGCAGTGCAAGGTGTACGACTCGCTGCTG
GCACTGCCACAGGACCTTCAGGCGGCCCGCGCCCTCATCGTGGTGGCCATCCTGCTGGCCGCCTTCGGGCTGCTAGTGGCGCTGGTGGGCGCCCAGTGCACCAAC
TGCGTGCAGGACGACACGGCCAAGGCCAAGATCACCATCGTGGCAGGCGTGCTGTTCCTTCTCGCCGCCCTGCTCACCCTCGTGCCGGTGTCCTGGTCGGCCAAC
ACCATTATCCGGGACTTCTACAACCCCGTGGTGCCCGAGGCGCAGAAGCGCGAGATGGGCGCGGGCCTGTACGTGGGCTGGGCGGCCGCGGCGCTGCAGCTGCTG
GGGGGCGCGCTGCTCTGCTGCTCGTGTCCCCCACGCGAGAAGAAGTACACGGCCACCAAGGTCGTCTACTCCGCGCCGCGCTCCACCGGCCCGGGAGCCAGCCTG
GGCACAGGCTACGACCGCAAGGACTACGTCTAA




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>CLDN3|1365|protein
MSMGLEITGTALAVLGWLGTIVCCALPMWRVSAFIGSNIITSQNIWEGLWMNCVVQSTGQMQCKVYDSLLALPQDLQAARALIVVAILLAAFGLLVALVGAQCTN
CVQDDTAKAKITIVAGVLFLLAALLTLVPVSWSANTIIRDFYNPVVPEAQKREMGAGLYVGWAAAALQLLGGALLCCSCPPREKKYTATKVVYSAPRSTGPGASL
GTGYDRKDYV


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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (4)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top