AutismKB 2.0

Evidence Details for C8orf58


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Basic Information Top
Gene Symbol:C8orf58 ( FLJ34715 )
Gene Full Name: chromosome 8 open reading frame 58
Band: 8p21.3
Quick LinksEntrez ID:541565; OMIM: NA; Uniprot ID:CH058_HUMAN; ENSEMBL ID: ENSG00000120913,ENSG00000241852; HGNC ID: 32233
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C8orf58|541565|nucleotide
ATGATGGGCCGGCGGCGCGCCTTCGCCGTGGACGGCCGGGATGGGGCTGGCGAGGGCCTGGCACGGGGCTGCATAGTGCCTGGAGTCACCAGCACCTACAGACGG
ATCCCCGACGCTGCCCACGGGTGCTCATCCTGGGAGAGAGGTGACAAGTTCAGAGGTGTCGGCAGGGAGGCACTCTTTCTCAAACTGGCCTCCCGGGACTCAGGA
GTGGAGATGGCAGTTGGGGACAGCCCCCTGGCCGCCTTACCGGGCCTTTCTCAGGACTCCCTGGACTTTGAATCCTCAGGGAGTTCTGAGCCCCCCGCCCAGGTA
GGCCGACTCCTGGCCAGCCAGAAGCTGGGGGAGGTGTTGGAGCGGTCCCGCCGGCTCCCAACAGCTCCCACCAGCTTGTCAGGACAACACCGCTCCCTGCGGCTG
GCAAGCAAGCCTGAGCGTGAAGTGCCCCTTGGAGCAGGGCAACAGGAGTCCATGGAGGCAGACACAGACCTAGAGGCAGGCCTGGAAGAAGAGGCGGTGGGGGGC
CTGGGGCCTGGAGCCTGGGCCTGCCTCCCCGGGCAGGGTCTTCGCTATCTGGAACACCTGTGCCTGGTGCTGGAGCAGATGGCAAGGCTCCAGCAGCTCTACCTG
CAGCTGCGGATCCAGAGGCCCCCAGGGGATCCCGGCGAGGAGGAGTCGACCCGAGCCCCTTTACCGTCCCCGTTACACACCCCAGGCAATCGGGGGCAGGGGCCA
TGGGAGCTGCTAAGCCAGACAGAGCACACAGGAGCAAAGGCTGCTTCACCCCCAAAGGTGGAGGTGCCCAGTGCCAACCCTCCCAGGCTGCCAGAAACCCCAGTG
GAGCCAACGTACCACTTGCCATCCTCCCAGGGACACAAGCGGGATATCTCCCACTGGGACAAGGTCAAGGTCCTGCTCAACCGGATCTGCCGGAGAAGCCACCAC
CACCCTGAGCCCCCTGCCCCTCCTGATGGCTCTGACCCCAGGATCGAGTCCAGGGACCTCCCTGAAAGGCCTCAGTGCCGCCCCCACCGGAAGACCTTTATGCCA
TCATTAGTGGTTAAGAAGCAACGAGCAAAAAACCTTTCTGTAGGCTGA
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>C8orf58|541565|protein
MMGRRRAFAVDGRDGAGEGLARGCIVPGVTSTYRRIPDAAHGCSSWERGDKFRGVGREALFLKLASRDSGVEMAVGDSPLAALPGLSQDSLDFESSGSSEPPAQV
GRLLASQKLGEVLERSRRLPTAPTSLSGQHRSLRLASKPEREVPLGAGQQESMEADTDLEAGLEEEAVGGLGPGAWACLPGQGLRYLEHLCLVLEQMARLQQLYL
QLRIQRPPGDPGEEESTRAPLPSPLHTPGNRGQGPWELLSQTEHTGAKAASPPKVEVPSANPPRLPETPVEPTYHLPSSQGHKRDISHWDKVKVLLNRICRRSHH
HPEPPAPPDGSDPRIESRDLPERPQCRPHRKTFMPSLVVKKQRAKNLSVG

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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) 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