AutismKB 2.0

Evidence Details for PCDHA5


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Basic Information Top
Gene Symbol:PCDHA5 ( CNR6,CNRN6,CNRS6,CRNR6,PCDH-ALPHA5 )
Gene Full Name: protocadherin alpha 5
Band: 5q31.3
Quick LinksEntrez ID:56143; OMIM: 606311; Uniprot ID:PCDA5_HUMAN; ENSEMBL ID: ENSG00000081842,ENSG00000204965,ENSG00000239389,EN; HGNC ID: 8671
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCDHA5|56143|nucleotide
ATGGTATATTCCCGGAGAGGAAGTCTGGGATCCCGGCTCCTGCTGCTCTGGCTTCTCCTTGCCTACTGGAAGGCAGGGAGCGGCCAGCTCCACTACTCGATCCCG
GAGGAAGCCAAACACGGAACCTTCGTTGGCCGCATCGCGCAGGACCTAGGGCTGGAGCTGGCGGAGCTGGTGCCGCGCCTGTTCCGGGTGGCGTCCAAGGGCCGC
GGGGACCTTCTGGAGGTAAATCTGCAGAATGGCATTTTGTTTGTGAATTCTCGGATCGACCGGGAGGAGCTGTGCCGGCGGAGGGCGGAGTGCAGCATCCACCTG
GAGGTGATCGTGGACAGGCCGCTGCAGGTTTTCCATGTGGAGGTGGCAGTGAAGGACATCAATGACAATCCGCCCAGGTTCTCCAGACAAGAACAAAGATTATTC
ATTTTAGAGTCAAGAATGCCAGATTCGCGGTTTCCGCTAGAGGGCGCGTCGGATTTGGATATTGGAGCAAATGCACAATTGAGATACAGGTTAAATCCAAACGAA
TATTTTGACTTAGATGTTAAAACAAATGAAGAAGAAACGAACTTTTTAGAGCTGGTTTTGAGGAAATCCTTAGATAGAGAAGAAACACAAGAACACCGTTTATTA
GTGATTGCAACTGATGGAGGAAAACCCGAACTAACAGGTACAGTTCAGTTGTTGATCAATGTATTGGATGCTAATGATAACGCCCCAGAATTTGATAAATCCATT
TATAATGTCAGATTGTTGGAAAATGCACCAAGTGGGACATTAGTTATTAAACTGAACGCCTCAGATGCAGATGAGGGCATCAATAAGGAAATAGTGTATTTCTTT
AGTAATCTTGTTCTTGACGATGTAAAGTCCAAATTTATAATTAATTCTAATACTGGTGAAATAAAAGTTAACGGGGAACTGGATTATGAAGACTATAACTCATAT
GAAATTAATATTGATGCCATGGATAAAAGTACATTCCCATTATCAGGACACTGTAAAGTAGTAGTGAAACTCCTGGATGTGAATGATAATACCCCAGAGATGGCC
ATAACCACCCTTTTCCTGCCTGTCAAAGAGGACGCTCCACTCAGCACGGTCATTGCTCTGATCAGCGTGTCTGACCGTGACTCAGGTGCCAACGGGCAGGTGACC
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>PCDHA5|56143|protein
MVYSRRGSLGSRLLLLWLLLAYWKAGSGQLHYSIPEEAKHGTFVGRIAQDLGLELAELVPRLFRVASKGRGDLLEVNLQNGILFVNSRIDREELCRRRAECSIHL
EVIVDRPLQVFHVEVAVKDINDNPPRFSRQEQRLFILESRMPDSRFPLEGASDLDIGANAQLRYRLNPNEYFDLDVKTNEEETNFLELVLRKSLDREETQEHRLL
VIATDGGKPELTGTVQLLINVLDANDNAPEFDKSIYNVRLLENAPSGTLVIKLNASDADEGINKEIVYFFSNLVLDDVKSKFIINSNTGEIKVNGELDYEDYNSY
EINIDAMDKSTFPLSGHCKVVVKLLDVNDNTPEMAITTLFLPVKEDAPLSTVIALISVSDRDSGANGQVTCSLMPHVPFKLVSTFKNYYSLVLDSALDRESVSVY
ELVVTARDGGSPSLWATASVSVEVADVNDNAPAFAQPQYTVFVKENNPPGCHIFTVSARDADAQENALVSYSLVERRVGERPLSSYVSVHAESGKVYALQPLDHE
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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 (1) 0 (0) 0 (0) 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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top