DHRS13

dehydrogenase/reductase 13, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 17:28897781-28903079

Links

ENSG00000167536 ∙ NCBI:147015 ∙ OMIM:616157 ∙ HGNC:28326 ∙ Uniprot:Q6UX07 ∙ 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 DHRS13 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHRS13 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			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	26	0	0

Variants in DHRS13

This is a list of pathogenic ClinVar variants found in the DHRS13 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-28898466-A-C		not specified	Uncertain significance (Apr 08, 2024)
17-28898481-C-T		not specified	Uncertain significance (Mar 30, 2024)
17-28898483-G-T		not specified	Uncertain significance (Dec 15, 2023)
17-28898631-G-T		not specified	Uncertain significance (Nov 09, 2024)
17-28898635-C-G		not specified	Uncertain significance (Nov 12, 2024)
17-28898649-C-T		not specified	Likely benign (Jun 07, 2024)
17-28898671-G-A		not specified	Uncertain significance (Jul 26, 2022)
17-28898683-G-A		not specified	Uncertain significance (Jul 31, 2024)
17-28898686-C-T		not specified	Uncertain significance (Oct 26, 2021)
17-28898691-C-T		not specified	Uncertain significance (Nov 09, 2023)
17-28898743-T-C		not specified	Uncertain significance (Jun 30, 2024)
17-28898752-C-T		not specified	Uncertain significance (Mar 16, 2024)
17-28898763-T-C		not specified	Uncertain significance (Mar 27, 2023)
17-28898791-C-G		not specified	Uncertain significance (Jul 09, 2024)
17-28898809-G-A		not specified	Uncertain significance (Jul 27, 2024)
17-28898829-G-A		not specified	Uncertain significance (Oct 12, 2021)
17-28898845-G-A		not specified	Uncertain significance (Apr 15, 2024)
17-28901038-C-T		not specified	Uncertain significance (Nov 21, 2024)
17-28901047-G-A		not specified	Uncertain significance (Jun 30, 2024)
17-28901074-T-C		not specified	Uncertain significance (Aug 16, 2022)
17-28901077-C-G		not specified	Uncertain significance (Feb 22, 2023)
17-28901088-C-T		not specified	Uncertain significance (Jun 18, 2021)
17-28901118-C-T		not specified	Uncertain significance (Sep 18, 2024)
17-28901121-T-C		not specified	Uncertain significance (Oct 16, 2024)
17-28901149-G-A		not specified	Uncertain significance (Aug 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHRS13	protein_coding	protein_coding	ENST00000378895	5	5291

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0256	0.923	125728	0	16	125744	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.554	195	218	0.894	0.0000135	2338
Missense in Polyphen		74	81.691	0.90585		871
Synonymous	1.20	74	88.4	0.837	0.00000460	850
Loss of Function	1.67	4	9.60	0.417	4.93e-7	123

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000163	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000718	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.000165	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0932

Intolerance Scores

• loftool: 0.342
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.6

Haploinsufficiency Scores

• pHI: 0.196
• hipred: N
• hipred_score: 0.178
• ghis: 0.533

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.833

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dhrs13

Gene ontology

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