CYB5RL

cytochrome b5 reductase like

Basic information

Region (hg38): 1:54169650-54200036

Links

ENSG00000215883 ∙ NCBI:606495 ∙ ∙ HGNC:32220 ∙ Uniprot:Q6IPT4 ∙ 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 CYB5RL gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYB5RL 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in CYB5RL

This is a list of pathogenic ClinVar variants found in the CYB5RL region.

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

Position	Type	Phenotype	Significance	ClinVar
1-54174681-T-C		not specified	Uncertain significance (Aug 02, 2021)
1-54174695-G-A		not specified	Uncertain significance (Jan 16, 2024)
1-54179172-G-C		not specified	Uncertain significance (Oct 10, 2023)
1-54179246-A-C		not specified	Uncertain significance (Jan 27, 2022)
1-54179265-C-T		not specified	Uncertain significance (Sep 07, 2022)
1-54179319-C-T		not specified	Uncertain significance (May 18, 2023)
1-54184174-T-C		not specified	Uncertain significance (Jul 26, 2022)
1-54184240-C-G		not specified	Uncertain significance (Jan 31, 2022)
1-54187693-T-C		not specified	Uncertain significance (Sep 13, 2023)
1-54190829-G-C		not specified	Uncertain significance (Jan 31, 2022)
1-54195529-C-T		not specified	Uncertain significance (Jul 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYB5RL	protein_coding	protein_coding	ENST00000419823	6	27701

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000337	0.809	124536	1	112	124649	0.000453

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.235	189	180	1.05	0.0000104	2039
Missense in Polyphen		52	51.452	1.0107		586
Synonymous	0.641	65	71.9	0.904	0.00000424	610
Loss of Function	1.34	11	16.9	0.650	9.92e-7	169

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000491	0.000490
Ashkenazi Jewish	0.000895	0.000895
East Asian	0.00178	0.00178
Finnish	0.000705	0.000650
European (Non-Finnish)	0.000302	0.000301
Middle Eastern	0.00178	0.00178
South Asian	0.000232	0.000229
Other	0.000828	0.000826

dbNSFP

Source: dbNSFP

• Function: FUNCTION: NADH-cytochrome b5 reductases are involved in desaturation and elongation of fatty acids, cholesterol biosynthesis, drug metabolism, and, in erythrocyte, methemoglobin reduction. {ECO:0000250}.
• Pathway: Amino sugar and nucleotide sugar metabolism - Homo sapiens (human);O2/CO2 exchange in erythrocytes;Transport of small molecules;Erythrocytes take up carbon dioxide and release oxygen (Consensus)

Intolerance Scores

• loftool: 0.408
• rvis_EVS: 0.8
• rvis_percentile_EVS: 87.54

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.287

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cyb5rl

Gene ontology

• Biological process: bicarbonate transport;oxidation-reduction process
• Cellular component: nucleus;nucleoplasm;endoplasmic reticulum membrane
• Molecular function: cytochrome-b5 reductase activity, acting on NAD(P)H