CMBL

carboxymethylenebutenolidase homolog

Basic information

Region (hg38): 5:10275875-10307902

Links

ENSG00000164237 ∙ NCBI:134147 ∙ OMIM:613379 ∙ HGNC:25090 ∙ Uniprot:Q96DG6 ∙ 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 CMBL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CMBL 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	2
missense			20	1		21
nonsense					1	1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	2	2

Variants in CMBL

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

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

Position	Type	Phenotype	Significance	ClinVar
5-10280478-A-G		not specified	Uncertain significance (Jan 04, 2024)
5-10280541-C-T		not specified	Uncertain significance (Apr 04, 2023)
5-10280617-G-A			Benign (Jan 19, 2018)
5-10280628-G-A		not specified	Uncertain significance (Nov 08, 2022)
5-10282207-G-A		not specified	Uncertain significance (Nov 23, 2024)
5-10282221-A-G			Benign (Oct 29, 2018)
5-10282225-T-G		not specified	Uncertain significance (Aug 30, 2021)
5-10282247-G-A		not specified	Uncertain significance (Feb 16, 2023)
5-10282266-G-A			Likely benign (Oct 29, 2018)
5-10282283-C-T		not specified	Likely benign (Oct 01, 2024)
5-10286403-A-C		not specified	Uncertain significance (Jul 31, 2024)
5-10286413-G-T		not specified	Uncertain significance (Oct 08, 2024)
5-10286437-A-G		not specified	Uncertain significance (Sep 07, 2022)
5-10286440-C-T		not specified	Uncertain significance (Jun 17, 2024)
5-10286448-C-A		not specified	Uncertain significance (Dec 15, 2022)
5-10286483-T-C		not specified	Likely benign (Jan 09, 2024)
5-10286492-T-A		not specified	Uncertain significance (Dec 19, 2022)
5-10288443-C-A		not specified	Uncertain significance (Nov 08, 2022)
5-10288508-A-C		not specified	Uncertain significance (May 26, 2023)
5-10288522-C-T		not specified	Uncertain significance (Sep 11, 2024)
5-10288527-G-T		not specified	Uncertain significance (Dec 28, 2022)
5-10290557-T-C		not specified	Uncertain significance (Aug 02, 2022)
5-10290568-C-G		not specified	Uncertain significance (Aug 26, 2022)
5-10290576-C-G		not specified	Uncertain significance (May 27, 2022)
5-10290591-T-C		not specified	Uncertain significance (Jul 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CMBL	protein_coding	protein_coding	ENST00000296658	5	32152

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000111	0.836	125525	0	222	125747	0.000883

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.375	149	137	1.09	0.00000708	1620
Missense in Polyphen		50	46.564	1.0738		577
Synonymous	-0.0795	50	49.3	1.01	0.00000286	438
Loss of Function	1.28	8	13.0	0.617	7.47e-7	143

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0109	0.0109
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.000652	0.000653
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000141	0.000141
Middle Eastern	0.000652	0.000653
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cysteine hydrolase. Can convert the prodrug olmesartan medoxomil into its pharmacologically active metabolite olmerstatan, an angiotensin receptor blocker, in liver and intestine. May also activate beta-lactam antibiotics faropenem medoxomil and lenampicillin. {ECO:0000269|PubMed:20177059}.
• Pathway: Phase I - Functionalization of compounds;Biological oxidations;Metabolism (Consensus)

Recessive Scores

• pRec: 0.0862

Intolerance Scores

• loftool: 0.736
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.51

Haploinsufficiency Scores

• pHI: 0.107
• hipred: N
• hipred_score: 0.267
• ghis: 0.534

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.874

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cmbl

Gene ontology

• Biological process: xenobiotic metabolic process
• Cellular component: cytosol;extracellular exosome
• Molecular function: hydrolase activity