DHRS1

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

Basic information

Region (hg38): 14:24290598-24299780

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.

• not_specified (46 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. These statistics are base on transcript: NM_001136050.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			3			3
missense			47	2		49
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	50	2	0

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