CYP8B1

cytochrome P450 family 8 subfamily B member 1, the group of Cytochrome P450 family 8

Basic information

Region (hg38): 3:42856005-42875898

Links

ENSG00000180432 ∙ NCBI:1582 ∙ OMIM:602172 ∙ HGNC:2653 ∙ Uniprot:Q9UNU6 ∙ 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 CYP8B1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP8B1 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				2	3	5
missense			23	1	3	27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			8			8
Total	0	0	31	3	6

Variants in CYP8B1

This is a list of pathogenic ClinVar variants found in the CYP8B1 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-42864668-A-G		not specified	Uncertain significance (Nov 12, 2021)
3-42864678-T-G		not specified	Uncertain significance (Sep 30, 2021)
3-42865008-G-C		not specified	Uncertain significance (Aug 10, 2021)
3-42865017-C-G		not specified	Uncertain significance (Jun 18, 2021)
3-42865076-G-A		not specified	Uncertain significance (Aug 10, 2021)
3-42865244-G-A		not specified	Uncertain significance (Jul 09, 2021)
3-42865449-G-T		not specified	Uncertain significance (Dec 21, 2023)
3-42865451-C-T		not specified	Uncertain significance (Dec 21, 2023)
3-42874490-T-C		not specified	Uncertain significance (Jul 05, 2023)
3-42874509-G-T			Likely benign (Jun 01, 2022)
3-42874524-C-T		not specified	Uncertain significance (Dec 21, 2023)
3-42874543-T-A		not specified	Uncertain significance (Apr 26, 2023)
3-42874572-C-T			Likely benign (Jun 01, 2022)
3-42874613-C-T			Benign (Mar 28, 2018)
3-42874628-G-A		not specified	Uncertain significance (Dec 16, 2023)
3-42874637-G-A		not specified	Uncertain significance (May 10, 2024)
3-42874643-T-C		not specified	Likely benign (Jun 06, 2023)
3-42874654-A-G		not specified	Uncertain significance (Jun 22, 2021)
3-42874688-G-A		not specified	Uncertain significance (Jun 11, 2021)
3-42874746-G-A			Benign (Apr 04, 2018)
3-42874748-G-A			Benign (Jul 31, 2018)
3-42874753-G-T		not specified	Uncertain significance (Aug 10, 2021)
3-42874772-G-A		not specified	Uncertain significance (Jan 29, 2024)
3-42875019-C-A			Benign (Dec 31, 2019)
3-42875038-T-A		not specified	Uncertain significance (May 18, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYP8B1	protein_coding	protein_coding	ENST00000316161	1	20137

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000206	0.730	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0712	278	281	0.988	0.0000162	3297
Missense in Polyphen		111	112.64	0.9854		1378
Synonymous	0.546	104	111	0.934	0.00000608	1006
Loss of Function	1.08	9	13.2	0.681	7.13e-7	149

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in bile acid synthesis and is responsible for the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha-dihydroxy-4-cholesten-3-one. Responsible for the balance between formation of cholic acid and chenodeoxycholic acid. Has a rather broad substrate specificity including a number of 7-alpha- hydroxylated C27 steroids. {ECO:0000250|UniProtKB:O02766}.
• Pathway: Primary bile acid biosynthesis - Homo sapiens (human);PPAR signaling pathway - Homo sapiens (human);27-Hydroxylase Deficiency;Bile Acid Biosynthesis;Congenital Bile Acid Synthesis Defect Type II;Cerebrotendinous Xanthomatosis (CTX);Zellweger Syndrome;Familial Hypercholanemia (FHCA);Congenital Bile Acid Synthesis Defect Type III;PPAR Alpha Pathway;Farnesoid X Receptor Pathway;Nuclear Receptors Meta-Pathway;Nuclear Receptors in Lipid Metabolism and Toxicity;PPAR signaling pathway;Oxidation by Cytochrome P450;Metapathway biotransformation Phase I and II;Phase I - Functionalization of compounds;Metabolism of lipids;Synthesis of Prostaglandins (PG) and Thromboxanes (TX);Arachidonic acid metabolism;Sterols are 12-hydroxylated by CYP8B1;Endogenous sterols;Eicosanoids;Cytochrome P450 - arranged by substrate type;Biological oxidations;Metabolism;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol;Synthesis of bile acids and bile salts;Bile acid and bile salt metabolism;Fatty acid metabolism;Nicotinamide salvaging;Nicotinate metabolism;Metabolism of water-soluble vitamins and cofactors;Metabolism of steroids;Metabolism of vitamins and cofactors;Bile acid biosynthesis;bile acid biosynthesis, neutral pathway (Consensus)

Intolerance Scores

• loftool: 0.609
• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.93

Haploinsufficiency Scores

• pHI: 0.141
• hipred: N
• hipred_score: 0.190
• ghis: 0.410

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00289

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cyp8b1
• Phenotype: homeostasis/metabolism phenotype; digestive/alimentary phenotype; liver/biliary system phenotype

Gene ontology

• Biological process: bile acid biosynthetic process;sterol metabolic process;oxidation-reduction process
• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;integral component of membrane;organelle membrane
• Molecular function: iron ion binding;sterol 12-alpha-hydroxylase activity;oxygen binding;heme binding;7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity