AutismKB 2.0

Evidence Details for PCDHB7


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Basic Information Top
Gene Symbol:PCDHB7 ( MGC111391,MGC163205,PCDH-BETA7 )
Gene Full Name: protocadherin beta 7
Band: 5q31.3
Quick LinksEntrez ID:56129; OMIM: 606333; Uniprot ID:PCDB7_HUMAN; ENSEMBL ID: ENSG00000113212; HGNC ID: 8692
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCDHB7|56129|nucleotide
ATGGAGGCCAGAGTGGAGCGTGCTGTGCAGAAAAGGCAAGTCTTATTTCTTTGTGTATTTCTGGGAATGTCTTGGGCTGGCGCCGAACCGCTTCGGTATTTTGTG
GCGGAGGAAACCGAGAGAGGCACCTTTCTTACCAACTTGGCAAAAGACCTAGGGTTAGGGGTAGGGGAACTGAGAGCCCGGGGAACTAGAATTGTTTCAGACCAG
AACATGCAAATTTTACTGCTCAGTTCGCTTACTGGTGATCTACTTCTAAATGAGAAATTGGACCGAGAGGAACTGTGTGGCCCCAGAGAGCCCTGTGTGCTGCCT
TTCCAGTTGTTATTGGAAAAACCTTTTCAGATTTTCCGTGCTGAACTATGGGTCAGAGACATCAATGATCACGCTCCAGTATTTCTAGACAGAGAGATTTCCTTG
AAAATATTAGAAAGTACCACTCCAGGGGCGGCATTTCTCCTAGAGAGTGCACAGGATTCAGATGTTGGAACCAACAGCCTGAGTAACTACACCATCAGCCCCAAT
GCCTATTTCCATATTAATGTCCATGATAGCGGGGAGGGGAATATCTATCCCGAATTGGTGCTGAATCAAGTGCTGGATCGGGAAGAGATACCAGAGTTCAGTTTA
ACCCTCACCGCTTTAGACGGCGGCTCTCCTCCAAGATCAGGGACCGCCCTCGTGCGCATTCTGGTTCTAGACGTAAATGACAACGCCCCTGATTTTGTGCGGTCG
CTCTACAAGGTGCAGGTGCCCGAAAATAGCCCCGTTGGTTCCATGGTTGTCTCCGTGTCAGCCAGAGATTTAGATACCGGAAGTAATGGGGAAATAGCCTATGCA
TTTTCTTACGCCACTGAAAGAATTCTCAAAACGTTTCAAATCAATCCAACATCTGGCAGTCTTCATCTTAAAGCGCAATTGGACTATGAGGCAATTCAAACTTAC
ACATTAACTATTCAGGCCAAAGACGGCGGCGGGCTTTCTGGAAAATGCACTGTAGTGGTTGATGTAACAGATATAAACGATAATCGACCCGAGCTGCTCCTGTCT
TCACTTACTAGCCCAATTGCAGAAAACTCACCCGAGACAGTCGTGGCTGTTTTTAGGATTAGAGACAGAGATTCCGGGAACAATGGAAAGACAGTGTGCTCCATC
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>PCDHB7|56129|protein
MEARVERAVQKRQVLFLCVFLGMSWAGAEPLRYFVAEETERGTFLTNLAKDLGLGVGELRARGTRIVSDQNMQILLLSSLTGDLLLNEKLDREELCGPREPCVLP
FQLLLEKPFQIFRAELWVRDINDHAPVFLDREISLKILESTTPGAAFLLESAQDSDVGTNSLSNYTISPNAYFHINVHDSGEGNIYPELVLNQVLDREEIPEFSL
TLTALDGGSPPRSGTALVRILVLDVNDNAPDFVRSLYKVQVPENSPVGSMVVSVSARDLDTGSNGEIAYAFSYATERILKTFQINPTSGSLHLKAQLDYEAIQTY
TLTIQAKDGGGLSGKCTVVVDVTDINDNRPELLLSSLTSPIAENSPETVVAVFRIRDRDSGNNGKTVCSIQDDVPFILKPSVENFYTLVTEKPLDRERNTEYNIT
ITVTDLGTPRLKTEHNITVLVSDVNDNAPAFTQTSYTLFVRENNSPALPIGSVSATDRDSGTNAQVIYSLLPSQDPHLPLASLVSINADNGHLFALRSLDYEALQ
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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 (1) 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