AutismKB 2.0

Evidence Details for C8orf80


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C8orf80 ( FLJ26413,SLIP-GC )
Gene Full Name: chromosome 8 open reading frame 80
Band: 8p21.1
Quick LinksEntrez ID:389643; OMIM: NA; Uniprot ID:SLIP_HUMAN; ENSEMBL ID: ENSG00000189233; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C8orf80|389643|nucleotide
ATGGCAGAAACGAAGGATGTTTTTGGCCAGGAACCGCATCCAGTTGAAGATGATTTATATAAAGAACGAACGAGAAAAAGAAGGAAATCAGATCGAGACCAGCGG
TTCCGAGCATTTCCCTCCATGGAGCAGAGTGCTCTTAAGGAATATGAAAAATTGGAATCACGGACCAGAAGGGTTTTGAGCAACACTTATCAGAAACTTATTCAG
TCTGTCTTCCTGGATGACAGCATCCCTAATGGAGTCAAGTATCTCATAAATAGGCTTCTTGCCTTGATTGAAAAGCCGACAGTGGACCCAATCTACATTGCATTA
TTTGGAAGCACTGGGGCTGGGAAGAGCTCCCTGATCAATGCCATCATCCAGCAAGCAATGTTTCTACCAGTGTCTGGAGAAAGCATATGTACTTCCTGCATTGTA
CAAGTGAGCTCTGGCTGCTGTGTGCAGTATGAGGCCAAAATCCACCTTCTGTCTGACCAGGAGTGGAGGGAGGAGCTGAAGAACCTGACCAAACTCCTGCATAGG
ACGGAGGAGCTGAGCAGAGAAGAGGCAGATGCGTGGAACAGGGATGAGGCAGTGGAGGAAGCCACCTGGAAGCTACAAATGATTTATGGAAATGGGGCAGAGAGT
AAGAACTATGAGGAGTTACTGAGGGCGAAGCCCAAAAGGAAGATCCCCACCTCCAGAGTCATCACCCTCAAGGCGGAAGAGGCAGAAGAGCTGTCCATCAAGCTG
GACCCCTACATCCGCACACAGAGGAGAGATTGGGATGGAGAGGCCGCTGAGATGCGCATCTGGCCCTTGATCAAACATGTGGAAGTGACACTTCCCAAATCCGAC
CTGATCCCAGAAGGGGTCGTGCTGGTGGACATCCCAGGCACAGGCGACTTCAACAGCAAGAGGGACGAGATGTGGAAAAAGACCATTGACAAGTGCTCAGTGATC
TGGGTGATCAGCGACATAGAGCGAGTTTCTGGGGGGCAAGCCCACGAAGACCTTCTGAATGAGAGCATCAAAGCCTGCCAGCGGGGCTTCTGTAGGGACGTGGCC
CTGGTGGTCACCAAGATGGACAAACTCCACTTGCCAGAATACCTAAGGGAAAGAAAGGCAGGAAATCAAGCTATTCAGAGTCAGCGAGAGGCTGTTTTAGAAAGA
Show »

>C8orf80|389643|protein
MAETKDVFGQEPHPVEDDLYKERTRKRRKSDRDQRFRAFPSMEQSALKEYEKLESRTRRVLSNTYQKLIQSVFLDDSIPNGVKYLINRLLALIEKPTVDPIYIAL
FGSTGAGKSSLINAIIQQAMFLPVSGESICTSCIVQVSSGCCVQYEAKIHLLSDQEWREELKNLTKLLHRTEELSREEADAWNRDEAVEEATWKLQMIYGNGAES
KNYEELLRAKPKRKIPTSRVITLKAEEAEELSIKLDPYIRTQRRDWDGEAAEMRIWPLIKHVEVTLPKSDLIPEGVVLVDIPGTGDFNSKRDEMWKKTIDKCSVI
WVISDIERVSGGQAHEDLLNESIKACQRGFCRDVALVVTKMDKLHLPEYLRERKAGNQAIQSQREAVLERNEMIKLQRTRILKEKLKRKLPADFKVLEASDLVYT
VSAQEYWQQALLTEEETEIPKLREYIRKSLLDKKKRTVTKYVTEAFGLLLLTDSFNSTQNLPNEHLHMSVLRRFAEEKVELLEKAIAQCFACMEQPLQEGVRTAR
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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top