AutismKB 2.0

Evidence Details for SC4MOL


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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






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>SC4MOL|6307|protein
MPRWYFLLARCFGCAVIEDTWHYFLHRLLHHKRIYKYIHKVHHEFQAPFGMEAEYAHPLETLILGTGFFIGIVLLCDHVILLWAWVTIRLLETIDVHSGYDIPLN
PLNLIPFYAGSRHHDFHHMNFIGNYASTFTWWDRIFGTDSQYNAYNEKRKKFEKKTE



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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 (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