AutismKB 2.0

Evidence Details for CDH18


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Basic Information Top
Gene Symbol:CDH18 ( CDH14,CDH14L,CDH24 )
Gene Full Name: cadherin 18, type 2
Band: 5p14.3
Quick LinksEntrez ID:1016; OMIM: 603019; Uniprot ID:CAD18_HUMAN; ENSEMBL ID: ENSG00000145526; HGNC ID: 1757
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CDH18|1016|nucleotide
ATGAAAATTACTAGCACATCTTGCATCTGTCCAGTCCTAGTGTGTCTCTGTTTTGTGCAGAGGTGTTATGGAACTGCTCACCACAGCTCCATCAAGGTGATGAGA
AACCAAACCAAACACATTGAAGGTGAAACCGAAGTCCATCATCGTCCCAAAAGGGGATGGGTATGGAATCAGTTCTTTGTTTTAGAAGAACATATGGGACCAGAT
CCTCAGTATGTTGGAAAGCTGCACTCCAATTCTGACAAAGGTGATGGATCTGTCAAGTACATCCTTACTGGAGAGGGTGCTGGGACTATATTTATCATTGACGAT
ACCACGGGTGATATCCACTCAACAAAAAGCCTAGACAGAGAGCAGAAGACCCACTATGTGCTTCATGCTCAAGCTATTGATAGACGTACAAACAAACCTCTTGAG
CCTGAATCCGAGTTCATCATCAAAGTGCAAGACATCAATGACAACGCTCCAAAATTCACAGATGGACCATACATTGTTACTGTGCCTGAAATGTCAGATATGGGT
ACCTCTGTTCTACAGGTGACAGCTACTGATGCAGATGACCCTACCTATGGAAACAGCGCTCGGGTGGTTTACAGCATTCTCCAAGGACAACCCTACTTCTCCGTC
GACCCTAAAACAGGAGTTATTAGAACGGCCTTACATAACATGGACAGAGAAGCCAGAGAACATTACTCCGTAGTCATTCAAGCCAAAGACATGGCTGGGCAAGTT
GGAGGGCTTTCAGGATCTACAACAGTCAACATCACCTTAACCGATGTCAATGACAACCCACCACGCTTTCCTCAAAAACACTATCAGCTATATGTTCCTGAGTCA
GCTCAAGTTGGTTCAGCTGTTGGGAAAATCAAGGCAAATGATGCTGACACTGGCTCAAATGCTGACATGACCTACTCCATCATAAATGGTGATGGCATGGGAATA
TTCTCAATCTCCACTGACAAAGAGACCAGAGAAGGAATCCTTTCTTTAAAGAAGCCACTGAACTATGAGAAAAAGAAGTCATATACCCTCAACATAGAAGGAGCA
AATACACATCTTGATTTTCGCTTTTCTCACTTGGGTCCTTTTAAAGATGCTACTATGCTGAAGATCATTGTTGGGGATGTAGATGAACCACCACTATTTTCCATG
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>CDH18|1016|protein
MKITSTSCICPVLVCLCFVQRCYGTAHHSSIKVMRNQTKHIEGETEVHHRPKRGWVWNQFFVLEEHMGPDPQYVGKLHSNSDKGDGSVKYILTGEGAGTIFIIDD
TTGDIHSTKSLDREQKTHYVLHAQAIDRRTNKPLEPESEFIIKVQDINDNAPKFTDGPYIVTVPEMSDMGTSVLQVTATDADDPTYGNSARVVYSILQGQPYFSV
DPKTGVIRTALHNMDREAREHYSVVIQAKDMAGQVGGLSGSTTVNITLTDVNDNPPRFPQKHYQLYVPESAQVGSAVGKIKANDADTGSNADMTYSIINGDGMGI
FSISTDKETREGILSLKKPLNYEKKKSYTLNIEGANTHLDFRFSHLGPFKDATMLKIIVGDVDEPPLFSMPSYLMEVYENAKIGTVVGTVLAQDPDSTNSLVRYF
INYNVEDDRFFNIDANTGTIRTTKVLDREETPWYNITVTASEIDNPDLLSHVTVGIRVLDVNDNPPELAREYDIIVCENSKPGQVIHTISATDKDDFANGPRFNF
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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 (3) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 4 (6)
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
Keller, 2003 USA FISHASD - - - - 2 - 2
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top