DHRS7B

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

Basic information

Region (hg38): 17:21123364-21193265

Links

ENSG00000109016 ∙ NCBI:25979 ∙ OMIM:616160 ∙ HGNC:24547 ∙ Uniprot:Q6IAN0 ∙ 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 DHRS7B gene.

• not_specified (46 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHRS7B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015510.5. 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			44	2		46
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	44	3	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHRS7B	protein_coding	protein_coding	ENST00000395511	7	69902

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.77e-9	0.143	125333	0	415	125748	0.00165

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.748	168	198	0.850	0.0000114	2094
Missense in Polyphen		65	78.538	0.82763		836
Synonymous	0.273	78	81.1	0.961	0.00000488	702
Loss of Function	0.193	13	13.8	0.944	8.03e-7	152

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00182	0.00182
Ashkenazi Jewish	0.00417	0.00418
East Asian	0.00	0.00
Finnish	0.00240	0.00241
European (Non-Finnish)	0.00231	0.00230
Middle Eastern	0.00	0.00
South Asian	0.000163	0.000163
Other	0.00130	0.00130

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0895

Intolerance Scores

• loftool: 0.433
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

• pHI: 0.188
• hipred: N
• hipred_score: 0.251
• ghis: 0.450

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.388

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dhrs7b
• Phenotype: endocrine/exocrine gland phenotype; muscle phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); digestive/alimentary phenotype; immune system phenotype

Gene ontology

• Biological process: biological_process;ether lipid biosynthetic process;neutrophil differentiation;macromolecule metabolic process;oxidation-reduction process
• Cellular component: endoplasmic reticulum membrane;membrane;integral component of membrane
• Molecular function: molecular_function;oxidoreductase activity