CORO1B

protein-coding

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

Gene summary

Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM, Mar 2008]

MANE transcript

NM_020441.3

Inheritance

—

ClinVar variants

U:101B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.47

Max pathogenic AF

—

Genomic locus

chr11:67,435,510-67,443,821

External References & Databases

Ensembl (ENSG00000172725)

Transcript & Mutation Effects

hg38 • Region Span ~8.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CORO1B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 99

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020441.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			99 clinvar	1 clinvar		100
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	101	2	0	103

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 44 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020441.3	RefSeq	NP_065174.1	10	MANE Select
ENST00000341356.10	Ensembl	ENSP00000340211.5	10	MANE Select
NM_001018070.3	RefSeq	NP_001018080.1	10	Standard
ENST00000393893.5	Ensembl	ENSP00000377471.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

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

Molecular Function

protein binding
identical protein binding
cadherin binding
actin filament binding
Arp2/3 complex binding

Cellular Component

stress fiber
cytoplasm
cytosol
actin filament
plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000393893
Coding exons: 10
Length: 5774
Individuals with no LoFs: 125657
Homozygous LoFs: 0
Heterozygous LoFs: 47
Defined: 125704
p: 0.000187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.03	296	350	0.845	0.0000251	3169
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.00013	0.000092	rare
European (Non-Finnish)	0.00033	0.00027	rare
South Asian	0.00016	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.146

Gene Damage Prediction

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