AutismKB 2.0

Evidence Details for CDH5


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Basic Information Top
Gene Symbol:CDH5 ( 7B4,CD144,FLJ17376 )
Gene Full Name: cadherin 5, type 2 (vascular endothelium)
Band: 16q21
Quick LinksEntrez ID:1003; OMIM: 601120; Uniprot ID:CADH5_HUMAN; ENSEMBL ID: ENSG00000179776; HGNC ID: 1764
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CDH5|1003|nucleotide
ATGCAGAGGCTCATGATGCTCCTCGCCACATCGGGCGCCTGCCTGGGCCTGCTGGCAGTGGCAGCAGTGGCAGCAGCAGGTGCTAACCCTGCCCAACGGGACACC
CACAGCCTGCTGCCCACCCACCGGCGCCAAAAGAGAGATTGGATTTGGAACCAGATGCACATTGATGAAGAGAAAAACACCTCACTTCCCCATCATGTAGGCAAG
ATCAAGTCAAGCGTGAGTCGCAAGAATGCCAAGTACCTGCTCAAAGGAGAATATGTGGGCAAGGTCTTCCGGGTCGATGCAGAGACAGGAGACGTGTTCGCCATT
GAGAGGCTGGACCGGGAGAATATCTCAGAGTACCACCTCACTGCTGTCATTGTGGACAAGGACACTGGCGAAAACCTGGAGACTCCTTCCAGCTTCACCATCAAA
GTTCATGACGTGAACGACAACTGGCCTGTGTTCACGCATCGGTTGTTCAATGCGTCCGTGCCTGAGTCGTCGGCTGTGGGGACCTCAGTCATCTCTGTGACAGCA
GTGGATGCAGACGACCCCACTGTGGGAGACCACGCCTCTGTCATGTACCAAATCCTGAAGGGGAAAGAGTATTTTGCCATCGATAATTCTGGACGTATTATCACA
ATAACGAAAAGCTTGGACCGAGAGAAGCAGGCCAGGTATGAGATCGTGGTGGAAGCGCGAGATGCCCAGGGCCTCCGGGGGGACTCGGGCACGGCCACCGTGCTG
GTCACTCTGCAAGACATCAATGACAACTTCCCCTTCTTCACCCAGACCAAGTACACATTTGTCGTGCCTGAAGACACCCGTGTGGGCACCTCTGTGGGCTCTCTG
TTTGTTGAGGACCCAGATGAGCCCCAGAACCGGATGACCAAGTACAGCATCTTGCGGGGCGACTACCAGGACGCTTTCACCATTGAGACAAACCCCGCCCACAAC
GAGGGCATCATCAAGCCCATGAAGCCTCTGGATTATGAATACATCCAGCAATACAGCTTCATCGTCGAGGCCACAGACCCCACCATCGACCTCCGATACATGAGC
CCTCCCGCGGGAAACAGAGCCCAGGTCATTATCAACATCACAGATGTGGACGAGCCCCCCATTTTCCAGCAGCCTTTCTACCACTTCCAGCTGAAGGAAAACCAG
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>CDH5|1003|protein
MQRLMMLLATSGACLGLLAVAAVAAAGANPAQRDTHSLLPTHRRQKRDWIWNQMHIDEEKNTSLPHHVGKIKSSVSRKNAKYLLKGEYVGKVFRVDAETGDVFAI
ERLDRENISEYHLTAVIVDKDTGENLETPSSFTIKVHDVNDNWPVFTHRLFNASVPESSAVGTSVISVTAVDADDPTVGDHASVMYQILKGKEYFAIDNSGRIIT
ITKSLDREKQARYEIVVEARDAQGLRGDSGTATVLVTLQDINDNFPFFTQTKYTFVVPEDTRVGTSVGSLFVEDPDEPQNRMTKYSILRGDYQDAFTIETNPAHN
EGIIKPMKPLDYEYIQQYSFIVEATDPTIDLRYMSPPAGNRAQVIINITDVDEPPIFQQPFYHFQLKENQKKPLIGTVLAMDPDAARHSIGYSIRRTSDKGQFFR
VTKKGDIYNEKELDREVYPWYNLTVEAKELDSTGTPTGKESIVQVHIEVLDENDNAPEFAKPYQPKVCENAVHGQLVLQISAIDKDITPRNVKFKFILNTENNFT
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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 (1) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top