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.

• not_specified (69 variants)
• not_provided (1 variants)

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. These statistics are base on transcript: NM_000144683.4. 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				1		1
missense			70	1		71
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	71	2	0

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