DHRS1

dehydrogenase/reductase 1, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 14:24290597-24299780

Links

ENSG00000157379 ∙ NCBI:115817 ∙ OMIM:610410 ∙ HGNC:16445 ∙ Uniprot:Q96LJ7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DHRS1 gene.

• Inborn genetic diseases (13 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHRS1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			12	1		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	1	0

Variants in DHRS1

This is a list of pathogenic ClinVar variants found in the DHRS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-24290887-A-G		not specified	Uncertain significance (Apr 20, 2023)
14-24290896-G-A		not specified	Uncertain significance (Feb 28, 2023)
14-24290902-C-T		not specified	Uncertain significance (Jan 20, 2023)
14-24290951-G-T		not specified	Uncertain significance (Jun 21, 2022)
14-24290973-C-A		not specified	Uncertain significance (Feb 17, 2024)
14-24290993-G-A		not specified	Uncertain significance (Nov 10, 2022)
14-24291159-T-C		not specified	Uncertain significance (Dec 13, 2023)
14-24292186-G-C		not specified	Uncertain significance (Oct 06, 2021)
14-24292231-C-T		not specified	Uncertain significance (Aug 28, 2023)
14-24292275-C-T		not specified	Likely benign (May 16, 2023)
14-24292290-C-T		not specified	Uncertain significance (Dec 15, 2023)
14-24292309-A-G		not specified	Uncertain significance (Dec 21, 2022)
14-24292315-C-G		not specified	Uncertain significance (Jan 18, 2023)
14-24292678-C-T		not specified	Uncertain significance (May 04, 2022)
14-24292680-T-C		not specified	Uncertain significance (Jun 03, 2022)
14-24292698-C-A		not specified	Uncertain significance (May 27, 2022)
14-24296516-C-T		not specified	Uncertain significance (Nov 14, 2023)
14-24296587-G-A		not specified	Uncertain significance (Jan 10, 2022)
14-24299045-C-T		not specified	Uncertain significance (Jan 03, 2024)
14-24299052-T-C		not specified	Uncertain significance (Jan 20, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHRS1	protein_coding	protein_coding	ENST00000288111	8	9236

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.96e-15	0.00318	125538	1	209	125748	0.000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.270	183	194	0.945	0.0000117	2004
Missense in Polyphen		61	62.393	0.97767		653
Synonymous	1.66	58	76.5	0.759	0.00000427	664
Loss of Function	-0.813	20	16.4	1.22	8.53e-7	177

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000503	0.000503
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00778	0.00780
Finnish	0.00	0.00
European (Non-Finnish)	0.000203	0.000202
Middle Eastern	0.00778	0.00780
South Asian	0.000784	0.000752
Other	0.000982	0.000978

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0968

Intolerance Scores

• loftool: 0.209
• rvis_EVS: -0.49
• rvis_percentile_EVS: 22.36

Haploinsufficiency Scores

• pHI: 0.268
• hipred: N
• hipred_score: 0.197
• ghis: 0.552

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.999

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Dhrs1

Gene ontology

• Biological process: oxidation-reduction process
• Cellular component: endoplasmic reticulum
• Molecular function: protein binding;oxidoreductase activity