CYB5B

cytochrome b5 type B

Basic information

Region (hg38): 16:69398402-69466264

Links

ENSG00000103018 ∙ NCBI:80777 ∙ OMIM:611964 ∙ HGNC:24374 ∙ Uniprot:O43169 ∙ 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 CYB5B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYB5B 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in CYB5B

This is a list of pathogenic ClinVar variants found in the CYB5B region.

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

Position	Type	Phenotype	Significance	ClinVar
16-69424687-T-G		not specified	Uncertain significance (Aug 14, 2023)
16-69424696-A-G		not specified	Uncertain significance (Nov 21, 2022)
16-69424696-A-T		not specified	Uncertain significance (May 13, 2024)
16-69424785-G-C		not specified	Uncertain significance (May 30, 2024)
16-69424787-G-T		not specified	Uncertain significance (Dec 21, 2023)
16-69424793-C-G		not specified	Uncertain significance (Mar 31, 2024)
16-69424813-G-C		not specified	Uncertain significance (Feb 27, 2024)
16-69447277-C-T		not specified	Uncertain significance (Aug 12, 2021)
16-69448115-A-G		not specified	Uncertain significance (Mar 24, 2023)
16-69448119-A-G		not specified	Uncertain significance (Mar 16, 2022)
16-69462467-G-C		not specified	Uncertain significance (Dec 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYB5B	protein_coding	protein_coding	ENST00000307892	5	41742

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0935	0.872	124785	0	6	124791	0.0000240

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.208	85	79.8	1.07	0.00000383	963
Missense in Polyphen		6	14.108	0.42529		192
Synonymous	0.669	26	30.7	0.846	0.00000152	282
Loss of Function	1.81	3	8.81	0.341	3.71e-7	108

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000124	0.000124
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000182	0.0000177
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cytochrome b5 is a membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases. {ECO:0000250}.
• Pathway: Oxidation by Cytochrome P450;Phase I - Functionalization of compounds;Biological oxidations;Metabolism (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.277
• rvis_EVS: -0.21
• rvis_percentile_EVS: 38.28

Haploinsufficiency Scores

• pHI: 0.237
• hipred: N
• hipred_score: 0.242
• ghis: 0.654

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• gene_indispensability_pred: E
• gene_indispensability_score: 0.992

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cyb5b

Gene ontology

• Biological process: oxidation-reduction process
• Cellular component: mitochondrial outer membrane;membrane;integral component of membrane
• Molecular function: protein binding;heme binding;metal ion binding