CYB5R1

cytochrome b5 reductase 1

Basic information

Region (hg38): 1:202961873-202967275

Previous symbols: [ "NQO3A2" ]

Links

ENSG00000159348

∙ NCBI:51706 ∙ OMIM:608341 ∙ HGNC:13397 ∙ Uniprot:Q9UHQ9 ∙ 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 CYB5R1 gene.

not_specified (43 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYB5R1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016243.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			43 clinvar			43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	43	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYB5R1	protein_coding	protein_coding	ENST00000367249	9	5412

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.36e-9	0.206	125690	0	58	125748	0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.510	155	174	0.891	0.00000945	1944
Missense in Polyphen		64	75.374	0.8491		864
Synonymous	-0.696	77	69.6	1.11	0.00000351	644
Loss of Function	0.470	14	16.0	0.873	9.23e-7	173

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000540	0.000539
Ashkenazi Jewish	0.00	0.00
East Asian	0.000217	0.000217
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000264	0.000246
Middle Eastern	0.000217	0.000217
South Asian	0.000196	0.000196
Other	0.000367	0.000326

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);Oxidation by Cytochrome P450;O2/CO2 exchange in erythrocytes;Transport of small molecules;Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis;Erythrocytes take up carbon dioxide and release oxygen (Consensus)

Recessive Scores

pRec: 0.130

Intolerance Scores

loftool: 0.367
rvis_EVS: -0.14
rvis_percentile_EVS: 43.57

Haploinsufficiency Scores

pHI: 0.352
hipred: N
hipred_score: 0.282
ghis: 0.554

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.975

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Cyb5r1
Phenotype

Gene ontology

Biological process: platelet degranulation;bicarbonate transport;sterol biosynthetic process;oxidation-reduction process
Cellular component: mitochondrion;endoplasmic reticulum membrane;plasma membrane;membrane;integral component of membrane;platelet alpha granule membrane;extracellular exosome
Molecular function: cytochrome-b5 reductase activity, acting on NAD(P)H;protein binding;FAD binding