CORO1B

coronin 1B, the group of Coronins|WD repeat domain containing

Basic information

Region (hg38): 11:67435510-67443821

Links

ENSG00000172725 ∙ NCBI:57175 ∙ OMIM:609849 ∙ HGNC:2253 ∙ Uniprot:Q9BR76 ∙ 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 CORO1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CORO1B 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			59			59
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			15	2		17
Total	0	0	74	3	0

Variants in CORO1B

This is a list of pathogenic ClinVar variants found in the CORO1B region.

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

Position	Type	Phenotype	Significance	ClinVar
11-67435785-T-C		not specified	Uncertain significance (May 15, 2024)
11-67435810-C-A		not specified	Uncertain significance (Jan 19, 2025)
11-67435870-C-T		not specified	Likely benign (Jan 02, 2024)
11-67435885-C-T		not specified	Uncertain significance (Mar 21, 2023)
11-67435917-C-T		not specified	Likely benign (Dec 03, 2021)
11-67435941-G-A		not specified	Uncertain significance (Mar 08, 2024)
11-67435944-G-A		not specified	Uncertain significance (Apr 20, 2024)
11-67435968-T-G		not specified	Uncertain significance (Aug 20, 2024)
11-67436002-C-T		not specified	Uncertain significance (Dec 31, 2024)
11-67436061-C-G		not specified	Uncertain significance (Mar 31, 2023)
11-67436073-C-T		not specified	Uncertain significance (Mar 21, 2024)
11-67436116-G-A		not specified	Uncertain significance (Oct 22, 2024)
11-67436118-C-T		not specified	Uncertain significance (May 18, 2023)
11-67436129-C-A		not specified	Uncertain significance (Jun 26, 2024)
11-67436136-G-A		not specified	Uncertain significance (Jan 17, 2025)
11-67436148-C-T		not specified	Uncertain significance (Jan 18, 2025)
11-67436149-G-A		not specified	Uncertain significance (Jul 13, 2021)
11-67436179-G-A		not specified	Uncertain significance (Mar 07, 2024)
11-67436188-G-A		not specified	Uncertain significance (Feb 22, 2025)
11-67436190-C-T		not specified	Uncertain significance (Dec 06, 2023)
11-67436248-C-T		not specified	Uncertain significance (May 09, 2023)
11-67436326-C-A		not specified	Uncertain significance (Dec 19, 2022)
11-67438387-C-A		not specified	Uncertain significance (Dec 12, 2023)
11-67438398-C-T		not specified	Uncertain significance (Nov 08, 2022)
11-67438399-G-A		not specified	Uncertain significance (Oct 26, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CORO1B	protein_coding	protein_coding	ENST00000393893	10	5774

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000459	0.993	125657	0	47	125704	0.000187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.03	296	350	0.845	0.0000251	3169
Missense in Polyphen		107	137.78	0.77659		1258
Synonymous	-0.0591	151	150	1.01	0.0000112	994
Loss of Function	2.37	11	23.4	0.471	0.00000125	236

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000302	0.000300
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.000130	0.0000924
European (Non-Finnish)	0.000325	0.000273
Middle Eastern	0.000109	0.000109
South Asian	0.000164	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates leading edge dynamics and cell motility in fibroblasts. May be involved in cytokinesis and signal transduction (By similarity). {ECO:0000250, ECO:0000269|PubMed:16027158}.

Recessive Scores

• pRec: 0.168

Intolerance Scores

• loftool: 0.751
• rvis_EVS: -0.84
• rvis_percentile_EVS: 11.28

Haploinsufficiency Scores

• pHI: 0.535
• hipred: Y
• hipred_score: 0.622
• ghis: 0.550

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.146

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Coro1b
• Phenotype: hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: cell migration;actin cytoskeleton organization;ruffle organization;regulation of Arp2/3 complex-mediated actin nucleation;negative regulation of Arp2/3 complex-mediated actin nucleation;endothelial cell chemotaxis;cellular response to platelet-derived growth factor stimulus;wound healing;actin filament bundle assembly;negative regulation of smooth muscle cell chemotaxis;actin filament branching;protein localization to cell leading edge;positive regulation of lamellipodium morphogenesis
• Cellular component: stress fiber;cytoplasm;cytosol;actin filament;plasma membrane;focal adhesion;lamellipodium;cell leading edge;perinuclear region of cytoplasm;extracellular exosome;cell periphery
• Molecular function: protein binding;identical protein binding;cadherin binding;actin filament binding;Arp2/3 complex binding