AutismKB 2.0

Evidence Details for C21orf58


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Basic Information Top
Gene Symbol:C21orf58 ( - )
Gene Full Name: chromosome 21 open reading frame 58
Band: 21q22.3
Quick LinksEntrez ID:54058; OMIM: NA; Uniprot ID:CU058_HUMAN; ENSEMBL ID: ENSG00000160298; HGNC ID: 1300
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C21orf58|54058|nucleotide
ATGGCGCGATCTCGGCTCCCTGCAACCTCCCTCAGGAAGCCGTGGAAGCTCGACCGCCAGAAACTTCCTTCTCCTGACTCAGGCCACAGTCTTCTGTGTGGCTGG
TCTCCAGGAGGTAAGGCCCGCCCTGCAGGCAACACCGGTGCTTGGGCTCCTGCTGAGCAGTTCTTTCCTGCGAGTAACAGAACCAGGGAGGGAGGTGGGCTGTGG
CCTCCCCTGCCCCTACAGTCGTCTCCTGCAGCTCCCACCATGCTGGACTCATCAGCAGCAGAGCAAGTGACCCGACTGACGCTGAAGCTCTTGGGACAGAAGCTG
GAGCAAGAACGGCAGAACGTGGAAGGGGGACCTGAGGGCCTCCACCTCGAGCCAGGAAATGAGGACCGGCCGGACGATGCCCTGCAGACTGCTCTGAAGAGAAGG
AGGGACCTTCTGCAGAGACTCCGGGAACAACACCTCCTGGACGAGCTCTCTCGGGCCCAGGCCTGGAGCGGGCCAAGCAGAGGAGCCCTCGGGTCAGCCCTGCCC
CCAGAGCTGCCCCCCACGGGCATCCTACCCACTGCCTCCCCATCCCCGCTGGCCCCAGACCCGCCAAGGATCATCCTGCCTACGGTCCCCCAGCCTCCTGCCACC
ATCATTCAGCAGCTCCCTCAGCAGCCACTCATAGCACAGATTCCTCCTCCCCAGGCCTTCCCTACTCAACGGTCAGGAAGTATTAAGGAAGACATGGTGGAGCTG
CTGCTGCTGCAGAACGCACAGGTGCACCAGTTGGTCCTGCAGAACTGGATGCTCAAGGCCCTGCCCCCAGCCCTGCAGGACCCGCCACATGTGCCCCCGAGGGTC
CCACGAGCTGCCAGGCCAAGGCTGCCTGCCGTGCACCACCACCACCACCACCACCATGCTGTGTGGCCACCTGGGGCTGCCACTGTCCTCCAGCCCGCCCCCAGC
CTGTGGACGCCTGGCCCACCCTGA

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>C21orf58|54058|protein
MARSRLPATSLRKPWKLDRQKLPSPDSGHSLLCGWSPGGKARPAGNTGAWAPAEQFFPASNRTREGGGLWPPLPLQSSPAAPTMLDSSAAEQVTRLTLKLLGQKL
EQERQNVEGGPEGLHLEPGNEDRPDDALQTALKRRRDLLQRLREQHLLDELSRAQAWSGPSRGALGSALPPELPPTGILPTASPSPLAPDPPRIILPTVPQPPAT
IIQQLPQQPLIAQIPPPQAFPTQRSGSIKEDMVELLLLQNAQVHQLVLQNWMLKALPPALQDPPHVPPRVPRAARPRLPAVHHHHHHHHAVWPPGAATVLQPAPS
LWTPGPP

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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) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Kuwano, 2011_1 Japan ASD 21
(19.05%)
-autism 21
(-)
2.25 Up 0.00419
  • Platform: Agilent
  • ProbeSet: -
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE26415
  • Statistic Method: unpaired t test with Benjamini-Hochberg corrrection for multiple comparisons at the 0.05 FDR
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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