AutismKB 2.0

Evidence Details for C8orf79


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C8orf79 ( FLJ36980,KIAA1456,MGC43113 )
Gene Full Name: chromosome 8 open reading frame 79
Band: 8p22
Quick LinksEntrez ID:57604; OMIM: NA; Uniprot ID:K1456_HUMAN; ENSEMBL ID: ENSG00000170941,ENSG00000250305; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C8orf79|57604|nucleotide
ATGGCCAGGGTCTTAGTTCCCGGAGGCCAACTGATGATTTACGTTTGGGCAATGGAACAAAAGAACCGTCACTTTGAGAAGCAAGACGTGCTTGTTCCATGGAAC
AGGGCTCTGTGTTCCCAGCTCTTCTCAGAGTCCAGCCAGTCTGGGAGGAAGAGGCAGTGTGGATACCCAGAAAGAGGCCATCCCTACCATCCTCCTTGCTCTGAG
TGTAGCTGTTCTGTTTGTTTTAAAGAGCAGTGTGGTTCAAAACGGTCCCACAGCGTGGGCTATGAACCTGCTATGGCAAGAACCTGTTTTGCAAATATTTCTAAG
GAAGGCGAGGAAGAATATGGATTTTACAGCACATTAGGAAAATCGTTTCGTTCCTGGTTTTTCTCCAGATCTTTGGATGAATCGACTCTGAGGAAGCAAATTGAA
AGAGTAAGACCCTTGAAAAACACAGAAGTTTGGGCCAGTAGCACTGTAACAGTCCAGCCTTCCAGACACTCTAGTTTAGACTTTGATCACCAAGAGCCATTTTCA
ACAAAAGGGCAAAGTTTAGATGAGGAAGTGTTTGTGGAATCTTCTTCTGGAAAACACTTGGAGTGGCTGAGAGCACCAGGCACTCTGAAACATTTAAATGGAGAC
CATCAAGGGGAAATGAGGAGAAATGGAGGGGGAAATTTTCTGGATAGCACTAATACTGGTGTGAATTGTGTGGATGCAGGCAACATAGAAGATGATAATCCTTCT
GCTAGTAAAATATTGAGAAGGATTTCTGCAGTTGATTCCACAGATTTCAACCCAGATGATACAATGTCTGTCGAAGATCCACAGACTGATGTTTTGGACTCCACA
GCCTTTATGCGCTACTACCATGTGTTTCGAGAAGGGGAGCTCTGCAGTCTGCTCAAGGAGAATGTGTCAGAGCTCCGTATCCTGAGTTCTGGGAATGATCATGGT
AACTGGTGTATCATTGCAGAGAAAAAGAGAGGTTGTGATTGA

Show »

>C8orf79|57604|protein
MARVLVPGGQLMIYVWAMEQKNRHFEKQDVLVPWNRALCSQLFSESSQSGRKRQCGYPERGHPYHPPCSECSCSVCFKEQCGSKRSHSVGYEPAMARTCFANISK
EGEEEYGFYSTLGKSFRSWFFSRSLDESTLRKQIERVRPLKNTEVWASSTVTVQPSRHSSLDFDHQEPFSTKGQSLDEEVFVESSSGKHLEWLRAPGTLKHLNGD
HQGEMRRNGGGNFLDSTNTGVNCVDAGNIEDDNPSASKILRRISAVDSTDFNPDDTMSVEDPQTDVLDSTAFMRYYHVFREGELCSLLKENVSELRILSSGNDHG
NWCIIAEKKRGCD

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) 1 (3) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (4)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top