AutismKB 2.0

Evidence Details for SC4MOL


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SC4MOL ( DESP4,ERG25,MGC104344 )
Gene Full Name: sterol-C4-methyl oxidase-like
Band: 4q32-q34
Quick LinksEntrez ID:6307; OMIM: 607545; Uniprot ID:ERG25_HUMAN; ENSEMBL ID: ENSG00000052802; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SC4MOL|6307|nucleotide
ATGCCAAGATGGTATTTTCTTTTGGCAAGATGCTTTGGTTGTGCAGTCATTGAAGATACTTGGCACTATTTTCTGCATAGACTCTTACACCACAAAAGAATATAC
AAGTATATTCATAAAGTTCATCATGAGTTTCAGGCTCCATTTGGAATGGAAGCTGAATATGCACATCCTTTGGAGACTCTAATTCTTGGAACTGGATTTTTCATT
GGAATCGTGCTTTTGTGTGATCATGTAATTCTTCTTTGGGCATGGGTGACCATTCGTTTATTAGAAACTATTGATGTCCATAGTGGTTATGATATTCCTCTCAAC
CCTTTAAATCTGATCCCTTTCTATGCTGGTTCTCGGCATCATGATTTCCACCACATGAACTTCATTGGAAACTATGCTTCAACATTTACATGGTGGGATCGAATT
TTTGGAACAGACTCTCAGTATAATGCCTATAATGAAAAGAGGAAGAAGTTTGAGAAAAAGACTGAATAA






Show »

>SC4MOL|6307|protein
MPRWYFLLARCFGCAVIEDTWHYFLHRLLHHKRIYKYIHKVHHEFQAPFGMEAEYAHPLETLILGTGFFIGIVLLCDHVILLWAWVTIRLLETIDVHSGYDIPLN
PLNLIPFYAGSRHHDFHHMNFIGNYASTFTWWDRIFGTDSQYNAYNEKRKKFEKKTE



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) 0 (1) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (3)
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
Ramanathan, 2004 - STS mappingautism - - - - 1 - 1
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Spence, 2006 USA microsatellite-based genomic screenASD 133 - 133 - 280 - -
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
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.94983 Down 46.4662
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1720889
  • 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

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