RDH13

retinol dehydrogenase 13, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 19:55039108-55071291

Links

ENSG00000160439 ∙ NCBI:112724 ∙ ∙ HGNC:19978 ∙ Uniprot:Q8NBN7 ∙ 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 RDH13 gene.

• not_specified (72 variants)
• not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RDH13 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001145971.2. 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				3	1	4
missense			74	2		76
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	75	5	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RDH13	protein_coding	protein_coding	ENST00000415061	7	32184

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		124684	0	114	124798	0.000457

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.586	232	208	1.11	0.0000135	2094
Missense in Polyphen		78	79.462	0.98161		751
Synonymous	-0.455	101	95.3	1.06	0.00000689	688
Loss of Function	-0.956	18	14.1	1.27	8.55e-7	149

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000675	0.000673
Ashkenazi Jewish	0.00	0.00
East Asian	0.00184	0.00184
Finnish	0.00	0.00
European (Non-Finnish)	0.000340	0.000327
Middle Eastern	0.00184	0.00184
South Asian	0.000662	0.000654
Other	0.000332	0.000330

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Does not exhibit retinol dehydrogenase (RDH) activity in vitro.
• Pathway: Signal Transduction;RA biosynthesis pathway;Signaling by Retinoic Acid;Signaling by Nuclear Receptors (Consensus)

Intolerance Scores

• loftool: 0.318
• rvis_EVS: -0.04
• rvis_percentile_EVS: 50.45

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.973

Gene Damage Prediction

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

Gene ontology

• Biological process: response to high light intensity;retina layer formation;eye photoreceptor cell development;retinol metabolic process;oxidation-reduction process
• Cellular component: mitochondrial inner membrane
• Molecular function: NADP-retinol dehydrogenase activity