Evidence Details for DHCR7
Basic Information Top
| Gene Symbol: | DHCR7 ( SLOS ) |
|---|---|
| Gene Full Name: | 7-dehydrocholesterol reductase |
| Band: | 11q13.4 |
| Quick Links | Entrez ID:1717; OMIM: 602858; Uniprot ID:DHCR7_HUMAN; ENSEMBL ID: ENSG00000172893; HGNC ID: 2860 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>DHCR7|1717|nucleotide
ATGGCTGCAAAATCGCAACCCAACATTCCCAAAGCCAAGAGTCTAGATGGCGTCACCAATGACAGAACCGCATCTCAAGGGCAGTGGGGCCGTGCCTGGGAGGTG
GACTGGTTTTCACTGGCGAGCGTCATCTTCCTACTGCTGTTCGCCCCCTTCATCGTCTACTACTTCATCATGGCTTGTGACCAGTACAGCTGCGCCCTGACTGGC
CCTGTGGTGGACATCGTCACCGGACATGCTCGGCTCTCGGACATCTGGGCCAAGACTCCACCTATAACGAGGAAAGCCGCCCAGCTCTATACCTTGTGGGTCACC
TTCCAGGTGCTTCTGTACACGTCTCTCCCTGACTTCTGCCATAAGTTTCTACCCGGCTACGTAGGAGGCATCCAGGAGGGGGCCGTGACTCCTGCAGGGGTTGTG
AACAAGTATCAGATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCTGGTTTGCAAACGCTCATCTCCTGTCCTGGTTCTCGCCCACCATCATCTTCGAC
AACTGGATCCCACTGCTGTGGTGCGCCAACATCCTTGGCTATGCCGTCTCCACCTTCGCCATGGTCAAGGGCTACTTCTTCCCCACCAGCGCCAGAGACTGCAAA
TTCACAGGCAATTTCTTTTACAACTACATGATGGGCATCGAGTTTAACCCTCGGATCGGGAAGTGGTTTGACTTCAAGCTGTTCTTCAATGGGCGCCCCGGGATC
GTCGCCTGGACCCTCATCAACCTGTCCTTCGCAGCGAAGCAGCGGGAGCTCCACAGCCATGTGACCAATGCCATGGTCCTGGTCAACGTCCTGCAGGCCATCTAC
GTGATTGACTTCTTCTGGAACGAAACCTGGTACCTGAAGACCATTGACATCTGCCATGACCACTTCGGGTGGTACCTGGGCTGGGGCGACTGTGTCTGGCTGCCT
TATCTTTACACGCTGCAGGGTCTGTACTTGGTGTACCACCCCGTGCAGCTGTCCACCCCGCACGCCGTGGGCGTCCTGCTGCTGGGCCTGGTGGGCTACTACATC
TTCCGGGTGGCCAACCACCAGAAGGACCTGTTCCGCCGCACGGATGGGCGCTGCCTCATCTGGGGCAGGAAGCCCAAGGTCATCGAGTGCTCCTACACATCCGCC
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ATGGCTGCAAAATCGCAACCCAACATTCCCAAAGCCAAGAGTCTAGATGGCGTCACCAATGACAGAACCGCATCTCAAGGGCAGTGGGGCCGTGCCTGGGAGGTG
GACTGGTTTTCACTGGCGAGCGTCATCTTCCTACTGCTGTTCGCCCCCTTCATCGTCTACTACTTCATCATGGCTTGTGACCAGTACAGCTGCGCCCTGACTGGC
CCTGTGGTGGACATCGTCACCGGACATGCTCGGCTCTCGGACATCTGGGCCAAGACTCCACCTATAACGAGGAAAGCCGCCCAGCTCTATACCTTGTGGGTCACC
TTCCAGGTGCTTCTGTACACGTCTCTCCCTGACTTCTGCCATAAGTTTCTACCCGGCTACGTAGGAGGCATCCAGGAGGGGGCCGTGACTCCTGCAGGGGTTGTG
AACAAGTATCAGATCAATGGCCTGCAAGCCTGGCTCCTCACGCACCTGCTCTGGTTTGCAAACGCTCATCTCCTGTCCTGGTTCTCGCCCACCATCATCTTCGAC
AACTGGATCCCACTGCTGTGGTGCGCCAACATCCTTGGCTATGCCGTCTCCACCTTCGCCATGGTCAAGGGCTACTTCTTCCCCACCAGCGCCAGAGACTGCAAA
TTCACAGGCAATTTCTTTTACAACTACATGATGGGCATCGAGTTTAACCCTCGGATCGGGAAGTGGTTTGACTTCAAGCTGTTCTTCAATGGGCGCCCCGGGATC
GTCGCCTGGACCCTCATCAACCTGTCCTTCGCAGCGAAGCAGCGGGAGCTCCACAGCCATGTGACCAATGCCATGGTCCTGGTCAACGTCCTGCAGGCCATCTAC
GTGATTGACTTCTTCTGGAACGAAACCTGGTACCTGAAGACCATTGACATCTGCCATGACCACTTCGGGTGGTACCTGGGCTGGGGCGACTGTGTCTGGCTGCCT
TATCTTTACACGCTGCAGGGTCTGTACTTGGTGTACCACCCCGTGCAGCTGTCCACCCCGCACGCCGTGGGCGTCCTGCTGCTGGGCCTGGTGGGCTACTACATC
TTCCGGGTGGCCAACCACCAGAAGGACCTGTTCCGCCGCACGGATGGGCGCTGCCTCATCTGGGGCAGGAAGCCCAAGGTCATCGAGTGCTCCTACACATCCGCC
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>DHCR7|1717|protein
MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVT
FQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCK
FTGNFFYNYMMGIEFNPRIGKWFDFKLFFNGRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLP
YLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCL
ACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF
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MAAKSQPNIPKAKSLDGVTNDRTASQGQWGRAWEVDWFSLASVIFLLLFAPFIVYYFIMACDQYSCALTGPVVDIVTGHARLSDIWAKTPPITRKAAQLYTLWVT
FQVLLYTSLPDFCHKFLPGYVGGIQEGAVTPAGVVNKYQINGLQAWLLTHLLWFANAHLLSWFSPTIIFDNWIPLLWCANILGYAVSTFAMVKGYFFPTSARDCK
FTGNFFYNYMMGIEFNPRIGKWFDFKLFFNGRPGIVAWTLINLSFAAKQRELHSHVTNAMVLVNVLQAIYVIDFFWNETWYLKTIDICHDHFGWYLGWGDCVWLP
YLYTLQGLYLVYHPVQLSTPHAVGVLLLGLVGYYIFRVANHQKDLFRRTDGRCLIWGRKPKVIECSYTSADGQRHHSKLLVSGFWGVARHFNYVGDLMGSLAYCL
ACGGGHLLPYFYIIYMAILLTHRCLRDEHRCASKYGRDWERYTAAVPYRLLPGIF
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Evidence summary TopClick 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) | Yes | 0 (0) | 1 (2) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 2 (3) |
Syndromic Autism Gene TopAbbreviations: AD, autosomal dominant; AR, autosomal recessive; ASD, autism spectrum disorder; ID, intellectual disability; XL, X linked.
| Inheritance | AR |
|---|---|
| OMIM | Smith-Lemli-Opitz syndrome (270400) |
| Description | Smith-Lemli-Opitz syndrome is an inborn error of metabolism affecting cholesterol biosynthesis. The rate of ASD in this syndrome is high: 53% (9/17) meet criteria for autism and 71% (10/14) have ASD, according to two studies |
| Reference(s) | 16761297; 16874769; 11223857; |
| Level | Level 4: The disorder is a generally acknowledged ASD related disorder. |
Genome-Wide Association Studies(By Ethnic Group) TopCNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Berkel, 2010 | Canada | SNP microarray |  | | ASD | - | - | - | - | 396 | 5023 | 5419 |
| Gai, 2011 | AGRE | SNP microarray | - | - | autism | - | - | - | - | 1224 | 3801 | 5025 |
Linkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies TopNGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Kalsner L, 2018 | - | - |  | | ASD | - | - | - | 100 | - |
Low Scale Gene Studies TopContact 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.