Evidence Details for DHRS3
Basic Information Top
| Gene Symbol: | DHRS3 ( RDH17,Rsdr1,SDR1,SDR16C1,retSDR1 ) |
|---|---|
| Gene Full Name: | dehydrogenase/reductase (SDR family) member 3 |
| Band: | 1p36.21 |
| Quick Links | Entrez ID:9249; OMIM: 612830; Uniprot ID:DHRS3_HUMAN; ENSEMBL ID: ENSG00000162496; HGNC ID: 17693 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>DHRS3|9249|nucleotide
ATGGTGTGGAAACGGCTGGGCGCGCTGGTGATGTTCCCTCTACAGATGATCTATCTGGTGGTGAAAGCAGCCGTCGGACTGGTGCTGCCCGCCAAGCTGCGGGAC
CTGTCGCGGGAGAACGTCCTCATCACCGGCGGCGGGAGAGGCATCGGGCGTCAGCTCGCCCGCGAGTTCGCGGAGCGCGGCGCCAGAAAGATTGTTCTCTGGGGC
CGGACTGAGAAATGCCTGAAGGAGACGACGGAGGAGATCCGGCAGATGGGCACTGAGTGCCATTACTTCATCTGTGATGTGGGCAACCGGGAGGAGGTGTACCAG
ACGGCCAAGGCCGTCCGGGAGAAGGTGGGTGACATCACCATCCTGGTGAACAATGCCGCCGTGGTCCATGGGAAGAGCCTAATGGACAGTGATGATGATGCCCTC
CTCAAGTCCCAACACATCAACACCCTGGGCCAGTTCTGGACCACCAAGGCCTTCCTGCCACGTATGCTGGAGCTGCAGAATGGCCACATCGTGTGCCTCAACTCC
GTGCTGGCACTGTCTGCCATCCCCGGTGCCATCGACTACTGCACATCCAAAGCGTCAGCCTTCGCCTTCATGGAGAGCCTGACCCTGGGGCTGCTGGACTGTCCG
GGAGTCAGCGCCACCACAGTGCTGCCCTTCCACACCAGCACCGAGATGTTCCAGGGCATGAGAGTCAGGTTTCCCAACCTCTTTCCCCCACTGAAGCCGGAGACG
GTGGCCCGGAGGACAGTGGAAGCTGTGCAGCTCAACCAGGCCCTCCTCCTCCTCCCATGGACAATGCATGCCCTCGTTATCTTGAAAAGCATACTTCCACAGGCT
GCACTCGAGGAGATCCACAAATTCTCAGGAACCTACACCTGCATGAACACTTTCAAAGGGCGGACATAG
Show »
ATGGTGTGGAAACGGCTGGGCGCGCTGGTGATGTTCCCTCTACAGATGATCTATCTGGTGGTGAAAGCAGCCGTCGGACTGGTGCTGCCCGCCAAGCTGCGGGAC
CTGTCGCGGGAGAACGTCCTCATCACCGGCGGCGGGAGAGGCATCGGGCGTCAGCTCGCCCGCGAGTTCGCGGAGCGCGGCGCCAGAAAGATTGTTCTCTGGGGC
CGGACTGAGAAATGCCTGAAGGAGACGACGGAGGAGATCCGGCAGATGGGCACTGAGTGCCATTACTTCATCTGTGATGTGGGCAACCGGGAGGAGGTGTACCAG
ACGGCCAAGGCCGTCCGGGAGAAGGTGGGTGACATCACCATCCTGGTGAACAATGCCGCCGTGGTCCATGGGAAGAGCCTAATGGACAGTGATGATGATGCCCTC
CTCAAGTCCCAACACATCAACACCCTGGGCCAGTTCTGGACCACCAAGGCCTTCCTGCCACGTATGCTGGAGCTGCAGAATGGCCACATCGTGTGCCTCAACTCC
GTGCTGGCACTGTCTGCCATCCCCGGTGCCATCGACTACTGCACATCCAAAGCGTCAGCCTTCGCCTTCATGGAGAGCCTGACCCTGGGGCTGCTGGACTGTCCG
GGAGTCAGCGCCACCACAGTGCTGCCCTTCCACACCAGCACCGAGATGTTCCAGGGCATGAGAGTCAGGTTTCCCAACCTCTTTCCCCCACTGAAGCCGGAGACG
GTGGCCCGGAGGACAGTGGAAGCTGTGCAGCTCAACCAGGCCCTCCTCCTCCTCCCATGGACAATGCATGCCCTCGTTATCTTGAAAAGCATACTTCCACAGGCT
GCACTCGAGGAGATCCACAAATTCTCAGGAACCTACACCTGCATGAACACTTTCAAAGGGCGGACATAG
Show »
>DHRS3|9249|protein
MVWKRLGALVMFPLQMIYLVVKAAVGLVLPAKLRDLSRENVLITGGGRGIGRQLAREFAERGARKIVLWGRTEKCLKETTEEIRQMGTECHYFICDVGNREEVYQ
TAKAVREKVGDITILVNNAAVVHGKSLMDSDDDALLKSQHINTLGQFWTTKAFLPRMLELQNGHIVCLNSVLALSAIPGAIDYCTSKASAFAFMESLTLGLLDCP
GVSATTVLPFHTSTEMFQGMRVRFPNLFPPLKPETVARRTVEAVQLNQALLLLPWTMHALVILKSILPQAALEEIHKFSGTYTCMNTFKGRT
Show »
MVWKRLGALVMFPLQMIYLVVKAAVGLVLPAKLRDLSRENVLITGGGRGIGRQLAREFAERGARKIVLWGRTEKCLKETTEEIRQMGTECHYFICDVGNREEVYQ
TAKAVREKVGDITILVNNAAVVHGKSLMDSDDDALLKSQHINTLGQFWTTKAFLPRMLELQNGHIVCLNSVLALSAIPGAIDYCTSKASAFAFMESLTLGLLDCP
GVSATTVLPFHTSTEMFQGMRVRFPNLFPPLKPETVARRTVEAVQLNQALLLLPWTMHALVILKSILPQAALEEIHKFSGTYTCMNTFKGRT
Show »
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) | No | 1 (2) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 4 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 2
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Ma, 2009_1 | Discovery | Illumina's Human 1M v1 Beadchip | 438 | - (-) |  |  | ASD | - - |
- - | ||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | | | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Levy, 2011 | Simons Simplex Collection | aCGH | - | - | ASD | 915 | 915 | - | - | - | - | - |
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 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.