DHRSX

dehydrogenase/reductase X-linked, the group of Pseudoautosomal region 1|Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): Y:2219506-2502805

Links

ENSG00000292338 ∙ NCBI:207063 ∙ OMIM:301034 ∙ HGNC:18399 ∙ Uniprot:Q8N5I4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Congenital disorder of glycosylation, type 1DD	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Audiologic/Otolaryngologic; Biochemical; Musculoskeletal; Neurologic	38821050

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DHRSX gene.

Variants pathogenicity by type

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

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DHRSX	protein_coding	protein_coding	ENST00000334651	7	283290

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000261	0.791	125568	0	23	125591	0.0000916

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.243	171	180	0.949	0.0000110	2117
Missense in Polyphen		52	64.249	0.80935		750
Synonymous	-1.19	94	80.4	1.17	0.00000578	680
Loss of Function	1.11	7	11.0	0.637	5.64e-7	140

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000124	0.000123
Middle Eastern	0.000109	0.000109
South Asian	0.0000661	0.0000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the positive regulation of starvation- induced autophagy (PubMed:25076851). {ECO:0000269|PubMed:25076851}.

Intolerance Scores

• loftool: 0.291
• rvis_EVS: 0.46
• rvis_percentile_EVS: 78.69

Haploinsufficiency Scores

• pHI: 0.184
• hipred: N
• hipred_score: 0.177

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.595

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dhrsx

Zebrafish Information Network

• Gene name: dhrsx
• Affected structure: xanthophore
• Phenotype tag: abnormal
• Phenotype quality: quality

Gene ontology

• Biological process: positive regulation of autophagy;oxidation-reduction process
• Cellular component: extracellular region
• Molecular function: oxidoreductase activity