DHRS7C

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

Basic information

Region (hg38): 17:9771434-9791592

Links

ENSG00000184544 ∙ NCBI:201140 ∙ OMIM:616161 ∙ HGNC:32423 ∙ Uniprot:A6NNS2 ∙ 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 DHRS7C gene.

• not_specified (40 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHRS7C gene is commonly pathogenic or not. These statistics are base on transcript: NM_001105571.3. 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						0
missense			40			40
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHRS7C	protein_coding	protein_coding	ENST00000330255	6	19864

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.27e-8	0.184	124880	0	187	125067	0.000748

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.351	163	176	0.925	0.0000102	2011
Missense in Polyphen		64	68.556	0.93355		745
Synonymous	-0.0593	78	77.3	1.01	0.00000505	624
Loss of Function	0.233	12	12.9	0.930	6.32e-7	156

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000629	0.000622
Ashkenazi Jewish	0.00	0.00
East Asian	0.000727	0.000723
Finnish	0.00469	0.00465
European (Non-Finnish)	0.000434	0.000433
Middle Eastern	0.000727	0.000723
South Asian	0.0000981	0.0000980
Other	0.000658	0.000656

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative oxidoreductase. {ECO:0000305}.

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.548
• rvis_EVS: 0.2
• rvis_percentile_EVS: 67.19

Haploinsufficiency Scores

• pHI: 0.125
• hipred: N
• hipred_score: 0.238
• ghis: 0.479

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.351

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dhrs7c

Gene ontology

• Biological process: regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;oxidation-reduction process
• Cellular component: extracellular region;longitudinal sarcoplasmic reticulum;sarcoplasmic reticulum membrane
• Molecular function: retinol dehydrogenase activity