AutismKB 2.0

Evidence Details for C16orf62


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Basic Information Top
Gene Symbol:C16orf62 ( DKFZp313M0539,DKFZp434B0212,FLJ21040,MGC16824 )
Gene Full Name: chromosome 16 open reading frame 62
Band: 16p12.3
Quick LinksEntrez ID:57020; OMIM: NA; Uniprot ID:CP062_HUMAN; ENSEMBL ID: ENSG00000103544; HGNC ID: 24641
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C16orf62|57020|nucleotide
ATGGCGCCGGCGGGAGTTGTAACCCGGGCTGTCCGGAGCGGGGAGCTGCCCCTCACAAGCATGGCGTCAGCTGAAAATGAAGCCTGTGCTGTGCGGAGCGTCGCC
TGCCCCTCACAAGCATGGCGTCTGCAGAAGGTGCTGTGCGGCCGCTGCGGGGCGGCCAGCTGCCCTTCACAAACATGGCGGCCGAGGGGTGCGGGGAGTGGCGGG
GTAAGGATGGGAAGCCGAGCAGACGGCCCCAGAACAAGCGGTCATGTGACTGGGAAGATGGCCGTCTTTCCTTGGCACTCCAGGAATAGGAACTACAAAGCTGAA
TTTGCATCATGCCGACTGGAGGCTGTACCATTGGAGTTTGGGGACTATCACCCTCTGAAACCCATAACTGTCACAGAGTCAAAGACAAAGAAAGTGAACCGGAAA
GGAAGCACTTCTTCCACGTCCTCCTCCTCCTCCAGCTCCGTGGTGGACCCGCTGAGCAGCGTCCTCGATGGGACTGACCCCCTCTCCATGTTTGCAGCCACTGCT
GACCCCGCAGCCTTGGCAGCTGCCATGGACAGCTCCAGAAGGAAACGTGATAGAGATGATAACTCCGTTGTAGGATCGGATTTTGAGCCTTGGACCAACAAACGG
GGAGAAATCCTTGCCCGGTACACCACTACCGAAAAGCTGTCTATTAATCTGTTTATGGGATCTGAAAAAGGCAAAGCTGGGACTGCCACATTGGCAATGTCAGAG
AAGGTGCGGACCCGGCTGGAGGAGCTGGATGACTTTGAGGAGGGTTCCCAAAAGGAGCTGTTGAACTTGACTCAGCAGGATTACGTGAACCGCATAGAGGAGCTC
AACCAATCGCTGAAGGATGCCTGGGCCTCAGACCAGAAAGTGAAGGCTCTAAAAATAGTCATCCAGTGTTCAAAGCTTCTTTCAGACACCAGTGTTATTCAGTTC
TACCCAAGCAAATTTGTCCTTATCACCGACATACTTGATACATTTGGAAAGCTCGTGTACGAGCGCATCTTTTCCATGTGTGTGGATAGCCGCAGCGTCTTACCA
GATCACTTTTCTCCAGAGAATGCAAATGACACGGCCAAGGAAACATGCCTAAATTGGTTTTTCAAGATTGCCTCCATCAGGGAACTCATTCCAAGATTTTACGTG
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>C16orf62|57020|protein
MAPAGVVTRAVRSGELPLTSMASAENEACAVRSVACPSQAWRLQKVLCGRCGAASCPSQTWRPRGAGSGGVRMGSRADGPRTSGHVTGKMAVFPWHSRNRNYKAE
FASCRLEAVPLEFGDYHPLKPITVTESKTKKVNRKGSTSSTSSSSSSSVVDPLSSVLDGTDPLSMFAATADPAALAAAMDSSRRKRDRDDNSVVGSDFEPWTNKR
GEILARYTTTEKLSINLFMGSEKGKAGTATLAMSEKVRTRLEELDDFEEGSQKELLNLTQQDYVNRIEELNQSLKDAWASDQKVKALKIVIQCSKLLSDTSVIQF
YPSKFVLITDILDTFGKLVYERIFSMCVDSRSVLPDHFSPENANDTAKETCLNWFFKIASIRELIPRFYVEASILKCNKFLSKTGISECLPRLTCMIRGIGDPLV
SVYARAYLCRVGMEVAPHLKETLNKNFFDFLLTFKQIHGDTVQNQLVVQGVELPSYLPLYPPAMDWIFQCISYHAPEALLTEMMERCKKLGNNALLLNSVMSAFR
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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 (0) 1 (1) 0 (1) 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
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
McCauley, 2005 - microsatellite-based genomic screenautism 158 - 158 - 333 - -
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 1
Case Control Based Association Studies: 0
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018