DHRS4L1

dehydrogenase/reductase 4 like 1 (pseudogene), the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 14:24036501-24050968

Links

ENSG00000225766 ∙ NCBI:728635 ∙ OMIM:615195 ∙ HGNC:19732 ∙ Uniprot:P0CG22 ∙ 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 DHRS4L1 gene.

• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DHRS4L1 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	1	0	0

Variants in DHRS4L1

This is a list of pathogenic ClinVar variants found in the DHRS4L1 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-24048724-C-A			Uncertain significance (Feb 20, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative oxidoreductase. {ECO:0000250}.
• Pathway: Retinol metabolism - Homo sapiens (human);Peroxisome - Homo sapiens (human);Signal Transduction;RA biosynthesis pathway;Metabolism of proteins;Leukotriene metabolism;Peroxisomal protein import;Prostaglandin formation from arachidonate;Putative anti-Inflammatory metabolites formation from EPA;retinol biosynthesis;Signaling by Retinoic Acid;Signaling by Nuclear Receptors;the visual cycle I (vertebrates);Arachidonic acid metabolism (Consensus)

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.152

Gene ontology

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