DHRS12

dehydrogenase/reductase 12, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 13:51767993-51804163

Links

ENSG00000102796 ∙ NCBI:79758 ∙ OMIM:616163 ∙ HGNC:25832 ∙ Uniprot:A0PJE2 ∙ 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 DHRS12 gene.

• not_specified (42 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHRS12 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001377533.1. 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			30	1		31
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	30	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHRS12	protein_coding	protein_coding	ENST00000444610	10	36165

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.04e-8	0.322	125706	0	42	125748	0.000167

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.251	170	179	0.947	0.0000102	2047
Missense in Polyphen		32	36.075	0.88704		475
Synonymous	0.888	64	73.7	0.868	0.00000483	619
Loss of Function	0.706	14	17.2	0.816	9.42e-7	188

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000723	0.000723
Ashkenazi Jewish	0.000103	0.0000992
East Asian	0.0000653	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.0000653	0.0000544
South Asian	0.000337	0.000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative oxidoreductase. {ECO:0000250}.

Intolerance Scores

• loftool: 0.440
• rvis_EVS: 0.62
• rvis_percentile_EVS: 83.36

Haploinsufficiency Scores

• pHI: 0.0460
• hipred: N
• hipred_score: 0.218
• ghis: 0.435

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.270

Gene Damage Prediction

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

Gene ontology

• Biological process: oxidation-reduction process
• Molecular function: oxidoreductase activity