AutismKB 2.0

Evidence Details for PCDHB8


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PCDHB8 ( PCDH-BETA8,PCDH3I )
Gene Full Name: protocadherin beta 8
Band: 5q31.3
Quick LinksEntrez ID:56128; OMIM: 606334; Uniprot ID:PCDB8_HUMAN; ENSEMBL ID: ENSG00000120322; HGNC ID: 8693
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCDHB8|56128|nucleotide
ATGGAGGCCAGCGGGAAGCTCATTTGCAGACAAAGGCAAGTCCTTTTTTCCTTTCTCCTTTTGGGCTTATCTCTGGCGGGCGCGGCGGAACCTAGAAGCTATTCT
GTGGTGGAGGAAACTGAGGGCAGCTCCTTTGTCACCAATTTAGCAAAGGACCTGGGTCTGGAGCAGAGGGAATTCTCCAGGCGGGGGGTTAGGGTTGTTTCCAGA
GGGAACAAACTACATTTGCAGCTCAATCAGGAGACCGCGGATTTGTTGCTAAATGAGAAATTGGACCGTGAGGATCTGTGCGGTCACACAGAGCCCTGTGTGCTA
CGTTTCCAAGTGTTGCTAGAGAGTCCCTTCGAGTTTTTTCAAGCTGAGCTGCAAGTAATAGACATAAACGACCACTCTCCAGTATTTCTGGACAAACAAATGTTG
GTGAAAGTATCAGAGAGCAGTCCTCCTGGGACTGCGTTTCCTCTGAAGAATGCTGAAGACTTAGATATAGGCCAAAACAATATTGAGAACTATATAATCAGCCCC
AACTCCTATTTTCGGGTCCTCACCCGCAAACGCAGTGATGGCAGGAAATACCCAGAGCTGGTGCTGGACAACGCGCTGGACCGAGAGGAAGAAGCTGAGCTCAGG
TTAACACTCACAGCACTGGATGGTGGCTCTCCGCCCAGATCTGGCACTGCTCAGGTCTACATTGAAGTTGTCGATGTCAATGATAATGCCCCTGAATTTCAGCAG
CCTTTCTATAGGGTGCAGATCTCTGAGGACAGTCCAATAAGCTTCCTGGTTGTGAAGGTCTCTGCCACGGATGTAGACACAGGAGTCAACGGAGAGATTTCCTAT
TCACTTTTCCAAGCTTCAGATGAGATAAGCAAAACTTTTAAGGTCGATTTCTTGACAGGAGAAATTCGACTAAAGAAACAACTTGATTTCGAAAAATTTCAGTCC
TATGAAGTCAATATCGAGGCGAGAGATGCTGGAGGCTTTTCTGGAAAATGCACCGTTCTGATTCAAGTGATAGATGTGAACGACCATGCCCCAGAAGTTACCATG
TCTGCATTTACCAGCCCAATACCTGAGAATGCGCCTGAAACTGTGGTTGCACTTTTCAGTGTTTCAGACCTTGATTCAGGAGAAAATGGGAAAATAAGTTGCTCC
Show »

>PCDHB8|56128|protein
MEASGKLICRQRQVLFSFLLLGLSLAGAAEPRSYSVVEETEGSSFVTNLAKDLGLEQREFSRRGVRVVSRGNKLHLQLNQETADLLLNEKLDREDLCGHTEPCVL
RFQVLLESPFEFFQAELQVIDINDHSPVFLDKQMLVKVSESSPPGTAFPLKNAEDLDIGQNNIENYIISPNSYFRVLTRKRSDGRKYPELVLDNALDREEEAELR
LTLTALDGGSPPRSGTAQVYIEVVDVNDNAPEFQQPFYRVQISEDSPISFLVVKVSATDVDTGVNGEISYSLFQASDEISKTFKVDFLTGEIRLKKQLDFEKFQS
YEVNIEARDAGGFSGKCTVLIQVIDVNDHAPEVTMSAFTSPIPENAPETVVALFSVSDLDSGENGKISCSIQEDLPFLLKSSVGNFYTLLTETPLDRESRAEYNV
TITVTDLGTPRLTTHLNMTVLVSDVNDNAPAFTQTSYTLFVRENNSPALHIGSVSATDRDSGTNAQVTYSLLPPQDPHLPLASLVSINTDNGHLFALRSLDYEAL
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 (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