CTBS

chitobiase, the group of Chitinases

Basic information

Region (hg38): 1:84549611-84574480

Previous symbols: [ "CTB" ]

Links

ENSG00000117151 ∙ NCBI:1486 ∙ OMIM:600873 ∙ HGNC:2496 ∙ Uniprot:Q01459 ∙ 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 CTBS gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTBS 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	2
missense			32	4	1	37
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	4	3

Variants in CTBS

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

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

Position	Type	Phenotype	Significance	ClinVar
1-84555066-T-C		not specified	Uncertain significance (Jan 10, 2023)
1-84555086-G-A			Benign (Sep 12, 2017)
1-84555111-C-T		not specified	Uncertain significance (Feb 14, 2025)
1-84555112-G-A			Benign (Nov 27, 2017)
1-84555159-G-C		not specified	Uncertain significance (Apr 09, 2024)
1-84563336-G-A		not specified	Likely benign (Feb 07, 2025)
1-84563349-C-T		not specified	Uncertain significance (May 18, 2022)
1-84563354-C-T		not specified	Likely benign (Oct 29, 2024)
1-84563355-G-A		not specified	Uncertain significance (Apr 07, 2023)
1-84563364-C-T		not specified	Uncertain significance (Feb 18, 2025)
1-84563384-C-T		not specified	Uncertain significance (Nov 07, 2024)
1-84563387-A-G		not specified	Uncertain significance (Nov 03, 2022)
1-84563402-A-G			Likely benign (Nov 01, 2022)
1-84563412-C-T		not specified	Uncertain significance (Oct 01, 2024)
1-84563415-G-C		not specified	Uncertain significance (Apr 13, 2023)
1-84563754-G-T		not specified	Uncertain significance (Apr 22, 2022)
1-84563791-G-A		not specified	Uncertain significance (Jan 03, 2024)
1-84563810-C-T		not specified	Likely benign (Nov 10, 2024)
1-84563814-T-C		not specified	Uncertain significance (May 26, 2022)
1-84565843-G-A		not specified	Uncertain significance (Sep 30, 2024)
1-84565843-G-T		not specified	Uncertain significance (Jan 23, 2024)
1-84565921-A-G		not specified	Uncertain significance (Mar 20, 2024)
1-84565973-T-C		not specified	Uncertain significance (Dec 11, 2024)
1-84565993-C-G		not specified	Uncertain significance (Nov 12, 2024)
1-84566002-T-A		not specified	Uncertain significance (Jan 19, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CTBS	protein_coding	protein_coding	ENST00000370630	7	24875

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.08e-7	0.557	125717	0	25	125742	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.659	180	207	0.871	0.0000101	2473
Missense in Polyphen		40	51.364	0.77876		653
Synonymous	2.21	49	73.0	0.671	0.00000348	714
Loss of Function	1.00	13	17.5	0.741	7.40e-7	228

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000338	0.000337
Ashkenazi Jewish	0.00	0.00
East Asian	0.000169	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000888	0.0000879
Middle Eastern	0.000169	0.000163
South Asian	0.000197	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the degradation of asparagine-linked glycoproteins. Hydrolyze of N-acetyl-beta-D-glucosamine (1-4)N- acetylglucosamine chitobiose core from the reducing end of the bond, it requires prior cleavage by glycosylasparaginase.

Recessive Scores

• pRec: 0.342

Intolerance Scores

• loftool: 0.905
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.22

Haploinsufficiency Scores

• pHI: 0.0908
• hipred: N
• hipred_score: 0.170
• ghis: 0.490

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.982

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ctbs
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; liver/biliary system phenotype; renal/urinary system phenotype; immune system phenotype; cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: chitin catabolic process;oligosaccharide catabolic process
• Cellular component: extracellular space;lysosome
• Molecular function: chitinase activity;chitin binding