AutismKB 2.0

Evidence Details for PCDHGB1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PCDHGB1 ( MGC119466,MGC119467,MGC119469,PCDH-GAMMA-B1 )
Gene Full Name: protocadherin gamma subfamily B, 1
Band: 5q31
Quick LinksEntrez ID:56104; OMIM: 606299; Uniprot ID:PCDGD_HUMAN; ENSEMBL ID: ENSG00000081853,ENSG00000240184,ENSG00000240764,EN; HGNC ID: 8708
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCDHGB1|56104|nucleotide
ATGCAGAGAGCCAGAGAAGCCGAAATGATGAAAAGTCAGGTACTGTTTCCCTTCCTGCTGTCTTTGTTCTGCGGGGCCATCTCCCAGCAGATCCGATACACGATT
CCAGAGGAGCTAGCCAACGGCTCACGGGTGGGGAAACTTGCCAAGGATCTGGGGCTCAGTGTCCGGGAGTTGCCAACTCGAAAACTGCGGGTTAGTGCAGAGGAT
TATTTCAACGTTAGTTTGGAGAGCGGGGATTTGTTAGTGAACGGTAGGATAGATCGAGAGAAGATTTGCGGAAGGAAACTTGAGTGTGCACTAGAATTCGAAACG
GTCGCTGAAAACCCAATGAATGTTTTCCACGTGGTTGTTGTAATCCAAGATATTAATGACAATGCACCACGTTTCGTTGCAAAAGGCATTGACTTAGAAATTTGT
GAGTCAGCCTTACCCGGGGTAAAATTCTCTCTGGATTCTGCTCAAGATGCAGATGTGGAAGGCAATTCACTGAAGTTATACACCATCAACCCCAATCAATACTTC
TCTCTGTCAACGAAGGAAAGTCCTGATGGAAGTAAATATCCGGTATTACTGCTGGAAAAACCTCTAGACAGGGAACATCAGAGCTCTCATCGCTTAATCCTGACT
GCCATGGATGGCGGGGACCCGCCTCTAAGCGGCACCACCCATATCTGGATCCGAGTTACGGATGCCAATGATAATGCTCCCGTGTTTAGCCAGGAGGTATACAGG
GTTAGCCTCCAAGAAAACGTACCGTGGGGAACCTCCGTGCTGCGGGTGATGGCCACAGACCAGGATGAGGGCATTAATGCAGAGATCACCTATGCCTTCCTCAAT
TCCCCAATAAGTACCAGCCTCTTCAATCTCAATCCAAATACTGGCGACATCACAACCAATGGCACATTGGATTTTGAAGAGACAAGTAGATATGTGTTGAGTGTG
GAAGCTAAGGATGGAGGAGTACACACAGCTCACTGTAATGTTCAAATAGAAATTGTTGACGAGAATGACAATGCCCCAGAGGTGACATTCATGTCCTTCTCTAAC
CAGATTCCAGAGGATTCAGACCTTGGAACTGTAATAGCCCTCATAAAAGTGCGAGACAAGGATTCTGGGCAAAATGGCATGGTGACATGCTATACTCAGGAAGAA
Show »

>PCDHGB1|56104|protein
MQRAREAEMMKSQVLFPFLLSLFCGAISQQIRYTIPEELANGSRVGKLAKDLGLSVRELPTRKLRVSAEDYFNVSLESGDLLVNGRIDREKICGRKLECALEFET
VAENPMNVFHVVVVIQDINDNAPRFVAKGIDLEICESALPGVKFSLDSAQDADVEGNSLKLYTINPNQYFSLSTKESPDGSKYPVLLLEKPLDREHQSSHRLILT
AMDGGDPPLSGTTHIWIRVTDANDNAPVFSQEVYRVSLQENVPWGTSVLRVMATDQDEGINAEITYAFLNSPISTSLFNLNPNTGDITTNGTLDFEETSRYVLSV
EAKDGGVHTAHCNVQIEIVDENDNAPEVTFMSFSNQIPEDSDLGTVIALIKVRDKDSGQNGMVTCYTQEEVPFKLESTSKNYYKLVIAGALNREQTADYNVTIIA
TDKGKPALSSRTSITLHISDINDNAPVFHQASYVVHVSENNPPGASIAQVSASDPDLGPNGRVSYSILASDLEPRELLSYVSVSPQSGVVFAQRAFDHEQLRAFE
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (2) 0 (0) 0 (0) 0 (0) 0 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top