COBL

cordon-bleu WH2 repeat protein

Basic information

Region (hg38): 7:51016212-51316818

Links

ENSG00000106078 ∙ NCBI:23242 ∙ OMIM:610317 ∙ HGNC:22199 ∙ Uniprot:O75128 ∙ 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 COBL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the COBL 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	4	6
missense			81	12	3	96
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding						0
Total	0	0	82	14	7

Variants in COBL

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

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

Position	Type	Phenotype	Significance	ClinVar
7-51025148-G-A			Likely benign (Mar 01, 2023)
7-51025168-C-T		not specified	Uncertain significance (Apr 25, 2023)
7-51025175-G-A			Benign (May 21, 2018)
7-51025249-G-A		not specified	Uncertain significance (Jan 26, 2022)
7-51025255-G-A		not specified	Uncertain significance (Feb 15, 2023)
7-51025279-G-A		not specified	Uncertain significance (Nov 04, 2023)
7-51025327-C-T		not specified	Uncertain significance (Oct 12, 2022)
7-51025333-C-T		not specified	Uncertain significance (Dec 20, 2023)
7-51025372-C-A		not specified	Uncertain significance (Nov 10, 2022)
7-51026617-C-T		not specified	Uncertain significance (Dec 27, 2023)
7-51026650-C-T		not specified	Uncertain significance (Mar 06, 2023)
7-51026662-C-A		not specified	Uncertain significance (Feb 17, 2024)
7-51027891-T-C		not specified	Uncertain significance (Mar 21, 2023)
7-51027897-C-G		not specified	Uncertain significance (Jun 21, 2022)
7-51027957-C-T		not specified	Likely benign (Sep 14, 2023)
7-51027978-A-C		not specified	Uncertain significance (Mar 11, 2024)
7-51027993-C-T		not specified	Uncertain significance (Jan 16, 2024)
7-51028001-C-T		not specified	Uncertain significance (Jan 16, 2024)
7-51028022-T-G		not specified	Uncertain significance (Oct 26, 2022)
7-51028029-G-C		not specified	Uncertain significance (May 18, 2023)
7-51028040-G-A		not specified	Uncertain significance (Aug 11, 2022)
7-51028055-C-T		not specified	Likely benign (May 08, 2023)
7-51028082-T-G		not specified	Uncertain significance (Jun 18, 2024)
7-51028118-C-T		not specified	Uncertain significance (Jan 23, 2023)
7-51028139-C-A		not specified	Uncertain significance (Dec 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
COBL	protein_coding	protein_coding	ENST00000265136	13	300607

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00391	0.996	125717	0	31	125748	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.521	780	740	1.05	0.0000435	8165
Missense in Polyphen		242	259.55	0.9324		2958
Synonymous	-0.158	318	314	1.01	0.0000208	2640
Loss of Function	4.34	13	44.1	0.295	0.00000241	528

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000482	0.000481
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.000107	0.000105
Middle Eastern	0.000164	0.000163
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays an important role in the reorganization of the actin cytoskeleton. Regulates neuron morphogenesis and increases branching of axons and dendrites. Regulates dendrite branching in Purkinje cells (By similarity). Binds to and sequesters actin monomers (G actin). Nucleates actin polymerization by assembling three actin monomers in cross-filament orientation and thereby promotes growth of actin filaments at the barbed end. Can also mediate actin depolymerization at barbed ends and severing of actin filaments. Promotes formation of cell ruffles. {ECO:0000250, ECO:0000269|PubMed:21816349}.

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.417
• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.55

Haploinsufficiency Scores

• pHI: 0.361
• hipred: N
• hipred_score: 0.273
• ghis: 0.479

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.525

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cobl
• Phenotype: normal phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: cobl
• Affected structure: ciliated epithelial cell
• Phenotype tag: abnormal
• Phenotype quality: composition

Gene ontology

• Biological process: embryonic axis specification;somite specification;neural tube closure;liver development;actin filament polymerization;notochord development;floor plate development;digestive tract development;collateral sprouting in absence of injury;actin filament network formation;positive regulation of dendrite development;positive regulation of ruffle assembly
• Cellular component: ruffle;actin filament;plasma membrane;cell cortex;membrane;axon;dendrite;neuronal cell body;dendritic growth cone;axonal growth cone;perinuclear region of cytoplasm
• Molecular function: actin monomer binding