DHRS7

dehydrogenase/reductase 7, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 14:60144119-60169856

Links

ENSG00000100612 ∙ NCBI:51635 ∙ OMIM:612833 ∙ HGNC:21524 ∙ Uniprot:Q9Y394 ∙ 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 DHRS7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHRS7 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			21			21
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	0	0

Variants in DHRS7

This is a list of pathogenic ClinVar variants found in the DHRS7 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-60149363-T-C		not specified	Uncertain significance (Mar 31, 2024)
14-60149513-C-T		not specified	Uncertain significance (Sep 14, 2021)
14-60149514-G-A		not specified	Uncertain significance (Dec 14, 2023)
14-60149522-C-T		not specified	Uncertain significance (Dec 21, 2022)
14-60149556-T-C		not specified	Uncertain significance (Oct 17, 2023)
14-60150075-T-G		not specified	Uncertain significance (Dec 21, 2022)
14-60150084-A-G		not specified	Uncertain significance (Jul 20, 2021)
14-60150088-A-G		not specified	Uncertain significance (Jan 02, 2024)
14-60150172-G-A		not specified	Uncertain significance (Apr 11, 2023)
14-60150179-A-T		not specified	Uncertain significance (Mar 29, 2023)
14-60152940-C-T		not specified	Uncertain significance (May 11, 2022)
14-60152941-G-A		not specified	Uncertain significance (Jul 09, 2021)
14-60153037-C-T		not specified	Uncertain significance (Jul 06, 2021)
14-60153070-A-T		not specified	Uncertain significance (Apr 12, 2022)
14-60153075-G-A		not specified	Uncertain significance (Oct 03, 2022)
14-60153981-G-A		not specified	Uncertain significance (Oct 05, 2023)
14-60153996-T-C		not specified	Uncertain significance (Sep 16, 2021)
14-60154021-C-T		not specified	Uncertain significance (Aug 02, 2023)
14-60154026-G-A		not specified	Uncertain significance (Mar 14, 2024)
14-60156093-C-G		not specified	Uncertain significance (Apr 12, 2022)
14-60156110-G-A		not specified	Uncertain significance (Jan 03, 2024)
14-60156134-A-G		not specified	Uncertain significance (Dec 14, 2023)
14-60165179-G-A		not specified	Uncertain significance (Dec 11, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHRS7	protein_coding	protein_coding	ENST00000216500	7	25737

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.86e-12	0.0439	125631	0	117	125748	0.000465

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0762	177	180	0.984	0.00000877	2184
Missense in Polyphen		57	57.698	0.9879		696
Synonymous	-0.268	72	69.2	1.04	0.00000340	678
Loss of Function	0.0239	17	17.1	0.994	7.98e-7	196

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00131	0.00131
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000330	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.000425	0.000422
Middle Eastern	0.000330	0.000326
South Asian	0.000676	0.000653
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0932

Intolerance Scores

• loftool: 0.463
• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.37

Haploinsufficiency Scores

• pHI: 0.123
• hipred: N
• hipred_score: 0.197
• ghis: 0.448

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.741

Mouse Genome Informatics

• Gene name: Dhrs7

Gene ontology

• Biological process: oxidation-reduction process
• Cellular component: membrane
• Molecular function: oxidoreductase activity