Evidence Details for SC4MOL
Basic Information Top
Gene Symbol: | SC4MOL ( DESP4,ERG25,MGC104344 ) |
---|---|
Gene Full Name: | sterol-C4-methyl oxidase-like |
Band: | 4q32-q34 |
Quick Links | Entrez 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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ATGCCAAGATGGTATTTTCTTTTGGCAAGATGCTTTGGTTGTGCAGTCATTGAAGATACTTGGCACTATTTTCTGCATAGACTCTTACACCACAAAAGAATATAC
AAGTATATTCATAAAGTTCATCATGAGTTTCAGGCTCCATTTGGAATGGAAGCTGAATATGCACATCCTTTGGAGACTCTAATTCTTGGAACTGGATTTTTCATT
GGAATCGTGCTTTTGTGTGATCATGTAATTCTTCTTTGGGCATGGGTGACCATTCGTTTATTAGAAACTATTGATGTCCATAGTGGTTATGATATTCCTCTCAAC
CCTTTAAATCTGATCCCTTTCTATGCTGGTTCTCGGCATCATGATTTCCACCACATGAACTTCATTGGAAACTATGCTTCAACATTTACATGGTGGGATCGAATT
TTTGGAACAGACTCTCAGTATAATGCCTATAATGAAAAGAGGAAGAAGTTTGAGAAAAAGACTGAATAA
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>SC4MOL|6307|protein
MPRWYFLLARCFGCAVIEDTWHYFLHRLLHHKRIYKYIHKVHHEFQAPFGMEAEYAHPLETLILGTGFFIGIVLLCDHVILLWAWVTIRLLETIDVHSGYDIPLN
PLNLIPFYAGSRHHDFHHMNFIGNYASTFTWWDRIFGTDSQYNAYNEKRKKFEKKTE
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MPRWYFLLARCFGCAVIEDTWHYFLHRLLHHKRIYKYIHKVHHEFQAPFGMEAEYAHPLETLILGTGFFIGIVLLCDHVILLWAWVTIRLLETIDVHSGYDIPLN
PLNLIPFYAGSRHHDFHHMNFIGNYASTFTWWDRIFGTDSQYNAYNEKRKKFEKKTE
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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 mapping | autism | - | - | - | - | 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 screen | ASD | 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 | |||
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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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