AutismKB 2.0

Evidence Details for C17orf97


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Basic Information Top
Gene Symbol:C17orf97 ( - )
Gene Full Name: chromosome 17 open reading frame 97
Band: 17p13.3
Quick LinksEntrez ID:400566; OMIM: NA; Uniprot ID:CQ097_HUMAN; ENSEMBL ID: ENSG00000187624; HGNC ID: 33800
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>C17orf97|400566|nucleotide
ATGGAGACGCGTGGCCCTGGCCTGGCGGTCCGCGCTGAGAGTCGCCGATTAGTCGGCATCGGGCCTCGGGCGCCCCCGGGGCGGGTTGGGTTGCAGCCCAGCGGG
CGGCTGGACCGCCGCGGTGGGGCGGGGACAATGGGGTACAAGGACAACGACGGCGAGGAGGAGGAGCGGGAGGGCGGCGCCGCGGGCCCGCGGGGGTCTAGACTG
CCCCCCATCACAGGCGGCGCCTCCGAGCTGGCCAAACGGAAGGTGAAGAAGAAAAAAAGGAAGAAGAAGACCAAGGGGTCTGGCAAGGGGGACGATAAACATCAG
AGTCAGAGCCTGAAGAGCCAGCCGCTTTCTTCCTCCTTTCATGACATCTTAAGTCCTTGCAAAGAGCGTGGCCCGAAACCAGAGCACAGACAGAGCAAAGTGGAA
AAGAAGCACCTCCCTTCTGACTCCTCCACCGTCAGCCTCCCCGACTTTGCCGAAATAGAGAACCTTGCGAATCGGATCAACGAAAGTCTGCGTTGGGATGGAATT
CTTGCTGACCCGGAGGCAGAGAAGGAAAGGATTCGCATCTATAAACTGAATCGGAGAAAACGGTACCGGTGCTTGGCCCTCAAGGGCTTCCACCCCGACCCCGAG
GCCCTCAAGGGCTTCCACCCCGACCCCGACGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCATC
CACCCCGACCCCGAGGCTCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCTGAGGCCCTCAAGGGTTTCCACACTGACCCCGAG
GCCCTCAAGGGTTTCCACATTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGTTTC
CACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCGAG
GCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACACTGACCCCAATGCCGAGGAGGCCCCTGAGAACTTACCCTACCTCTCGGACAAAGAT
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>C17orf97|400566|protein
METRGPGLAVRAESRRLVGIGPRAPPGRVGLQPSGRLDRRGGAGTMGYKDNDGEEEEREGGAAGPRGSRLPPITGGASELAKRKVKKKKRKKKTKGSGKGDDKHQ
SQSLKSQPLSSSFHDILSPCKERGPKPEHRQSKVEKKHLPSDSSTVSLPDFAEIENLANRINESLRWDGILADPEAEKERIRIYKLNRRKRYRCLALKGFHPDPE
ALKGFHPDPDALKGFHPDPEALKGFHPDPEALKGIHPDPEALKGFHPDPEALKGFHPDPEALKGFHTDPEALKGFHIDPEALKGFHPDPKALKGFHPDPKALKGF
HTDPEALKGFHPDPKALKGFHPDPEALKGFHPDPEALKGFHPDPEALKGFHTDPNAEEAPENLPYLSDKDGSSSHRQPTSKAECPNLCFEGNLTPKLLHSDLAPT
LLE
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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 (2) 0 (0) 0 (0) 3 (3) 0 (0) 0 (0) 0 (0) 0 (0) 5 (5)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 3
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Ghahramani Seno, 2010_1 Unknown lymphoblastoid cell-line 20
(35.00%)
-AD 22
(13.64%)
0 Down 0.207
  • Platform: Illumina HumanRef-8_V3 gene expression arrays (San Diego, USA)
  • ProbeSet: ILMN_1707137
  • RefSeq_ID/ EST: -
  • GEO_ID: -
  • Statistic Method: Generalized Estimating Equations (GEE)
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.682742 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1707137
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.731733 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1713803
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_2 Unknown frontal, BA44/45 10
(0.00%)
-autism 6
(0.00%)
0.770503 Down 0.0371736
  • Platform: Illumina Ref8 v4 microarrays
  • ProbeSet: ILMN_1707137
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
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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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