AutismKB 2.0

Evidence Details for C9orf86


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Basic Information Top
Gene Symbol:C9orf86 ( FLJ10101,FLJ13045,Parf,RBEL1,bA216L13.9,pp8875 )
Gene Full Name: chromosome 9 open reading frame 86
Band: 9q34.3
Quick LinksEntrez ID:55684; OMIM: 610615; Uniprot ID:PARF_HUMAN; ENSEMBL ID: ENSG00000196642; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C9orf86|55684|nucleotide
ATGTTTTCCGCCCTGAAGAAGCTGGTGGGGTCGGACCAGGCCCCGGGCCGGGACAAGAACATCCCCGCCGGGCTGCAGTCCATGAACCAGGCGTTGCAGAGGCGC
TTCGCCAAGGGGGTGCAGTACAACATGAAGATAGTGATCCGGGGAGACAGGAACACGGGCAAGACAGCGCTGTGGCACCGCCTGCAGGGCCGGCCGTTCGTGGAG
GAGTACATCCCCACACAGGAGATCCAGGTCACCAGCATCCACTGGAGCTACAAGACCACGGATGACATCGTGAAGGTTGAAGTCTGGGATGTAGTAGACAAAGGA
AAATGCAAAAAGCGAGGCGACGGCTTAAAGATGGAGAACGACCCCCAGGAGGCGGAGTCTGAAATGGCCCTGGATGCTGAGTTCCTGGACGTGTACAAGAACTGC
AACGGGGTGGTCATGATGTTCGACATTACCAAGCAGTGGACCTTCAATTACATTCTCCGGGAGCTTCCAAAAGTGCCCACCCACGTGCCAGTGTGCGTGCTGGGA
AACTACCGGGACATGGGCGAGCACCGAGTCATCCTGCCGGACGACGTGCGTGACTTCATCGACAACCTGGACAGCAGACCTCCAGGTTCCTCCTACTTCCGCTAT
GCTGAGTCTTCCATGAAGAACAGCTTCGGCCTAAAGTACCTTCATAAGTTCTTCAATATCCCATTTTTGCAGCTTCAGAGGGAGACGCTGTTGCGGCAGCTGGAG
ACGAACCAGCTGGACATGGACGCCACGCTGGAGGAGCTGTCGGTGCAGCAGGAGACGGAGGACCAGAACTACGGCATCTTCCTGGAGATGATGGAGGCTCGCAGC
CGTGGCCATGCGTCCCCACTGGCGGCCAACGGGCAGAGCCCATCCCCGGGCTCCCAGTCACCAGTGGTGCCTGCAGGCGCTGTGTCCACGGGGAGCTCCAGCCCC
GGCACACCCCAGCCCGCCCCACAGCTGCCCCTCAATGCCGCCCCACCATCCTCTGTGCCCCCTGTACCACCCTCAGAGGCCCTGCCCCCACCTGCGTGCCCCTCA
GCCCCCGCCCCACGGCGCAGCATCATCTCTAGGCTGTTTGGGACGTCACCTGCCACCGAGGCAGCCCCTCCACCTCCAGAGCCAGTCCCGGCCGCAGAGGGCCCA
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>C9orf86|55684|protein
MFSALKKLVGSDQAPGRDKNIPAGLQSMNQALQRRFAKGVQYNMKIVIRGDRNTGKTALWHRLQGRPFVEEYIPTQEIQVTSIHWSYKTTDDIVKVEVWDVVDKG
KCKKRGDGLKMENDPQEAESEMALDAEFLDVYKNCNGVVMMFDITKQWTFNYILRELPKVPTHVPVCVLGNYRDMGEHRVILPDDVRDFIDNLDSRPPGSSYFRY
AESSMKNSFGLKYLHKFFNIPFLQLQRETLLRQLETNQLDMDATLEELSVQQETEDQNYGIFLEMMEARSRGHASPLAANGQSPSPGSQSPVVPAGAVSTGSSSP
GTPQPAPQLPLNAAPPSSVPPVPPSEALPPPACPSAPAPRRSIISRLFGTSPATEAAPPPPEPVPAAEGPATVQSVEDFVPDDRLDRSFLEDTTPARDEKKVGAK
AAQQDSDSDGEALGGNPMVAGFQDDVDLEDQPRGSPPLPAGPVPSQDITLSSEEEAEVAAPTKGPAPAPQQCSEPETKWSSIPASKPRRGTAPTRTAAPPWPGGV
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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 (2) 1 (3) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (6)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top