CTRB1

chymotrypsinogen B1

Basic information

Region (hg38): 16:75218988-75226338

Previous symbols: [ "CTRB" ]

Links

ENSG00000168925 ∙ NCBI:1504 ∙ OMIM:118890 ∙ HGNC:2521 ∙ Uniprot:P17538 ∙ 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 CTRB1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTRB1 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				1		1
missense			24	5		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	6	0

Variants in CTRB1

This is a list of pathogenic ClinVar variants found in the CTRB1 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-75219015-C-T		not specified	Likely benign (Jan 03, 2022)
16-75219026-C-T		not specified	Uncertain significance (Oct 26, 2022)
16-75219027-T-C		not specified	Uncertain significance (Jun 10, 2024)
16-75219037-C-G		not specified	Uncertain significance (May 31, 2023)
16-75222788-C-A		not specified	Uncertain significance (Jan 23, 2023)
16-75222803-G-A		not specified	Uncertain significance (Jan 02, 2024)
16-75222813-G-A		not specified	Uncertain significance (Aug 08, 2023)
16-75222836-G-A		not specified	Uncertain significance (Nov 17, 2022)
16-75222837-T-C		not specified	Uncertain significance (Jun 28, 2023)
16-75222978-G-A		not specified	Uncertain significance (Jun 09, 2022)
16-75223010-C-T			Likely benign (Oct 01, 2022)
16-75223041-G-A		not specified	Uncertain significance (Dec 16, 2022)
16-75223157-G-A		not specified	Uncertain significance (Jan 25, 2023)
16-75223173-A-G		not specified	Uncertain significance (Aug 14, 2024)
16-75223187-G-A		not specified	Uncertain significance (Dec 10, 2024)
16-75223193-A-G		not specified	Likely benign (Jan 09, 2024)
16-75223202-G-A		not specified	Uncertain significance (Aug 10, 2024)
16-75223215-C-A		not specified	Uncertain significance (Oct 12, 2021)
16-75223544-G-A		not specified	Uncertain significance (Oct 17, 2024)
16-75223565-G-A		not specified	Uncertain significance (Sep 30, 2024)
16-75223580-G-A		not specified	Likely benign (Feb 28, 2023)
16-75223580-G-T		not specified	Uncertain significance (Apr 13, 2022)
16-75224088-C-T		not specified	Uncertain significance (Sep 06, 2022)
16-75224106-A-G		not specified	Uncertain significance (Oct 08, 2024)
16-75224108-G-A		not specified	Likely benign (Nov 20, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CTRB1	protein_coding	protein_coding	ENST00000361017	7	5925

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000242	0.170	125561	0	14	125575	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.531	131	115	1.14	0.00000677	1671
Missense in Polyphen		30	29.262	1.0252		477
Synonymous	-0.844	61	53.2	1.15	0.00000386	531
Loss of Function	-0.355	8	6.99	1.14	3.01e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000647	0.0000647
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000554	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000291	0.0000264
Middle Eastern	0.0000554	0.0000544
South Asian	0.000308	0.000261
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Protein digestion and absorption - Homo sapiens (human);Pancreatic secretion - Homo sapiens (human);Extracellular matrix organization;Activation of Matrix Metalloproteinases;Degradation of the extracellular matrix (Consensus)

Recessive Scores

• pRec: 0.152

Haploinsufficiency Scores

• pHI: 0.338
• hipred: N
• hipred_score: 0.146
• ghis: 0.400

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.234

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ctrb1

Gene ontology

• Biological process: proteolysis;digestion;cobalamin metabolic process;extracellular matrix disassembly
• Cellular component: extracellular region;extracellular space
• Molecular function: serine-type endopeptidase activity;serine-type peptidase activity