COIL

coilin

Basic information

Region (hg38): 17:56938199-56961050

Links

ENSG00000121058 ∙ NCBI:8161 ∙ OMIM:600272 ∙ HGNC:2184 ∙ Uniprot:P38432 ∙ 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 COIL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the COIL 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			24	3	1	28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	24	3	2

Variants in COIL

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

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

Position	Type	Phenotype	Significance	ClinVar
17-56939087-C-T		not specified	Uncertain significance (Nov 06, 2023)
17-56939150-G-A		not specified	Uncertain significance (Jul 05, 2023)
17-56939159-G-A			Likely benign (Feb 25, 2018)
17-56949416-T-C		not specified	Uncertain significance (Aug 12, 2022)
17-56949710-G-T		not specified	Uncertain significance (Mar 21, 2023)
17-56949894-T-A		not specified	Uncertain significance (May 13, 2024)
17-56949897-T-C		not specified	Uncertain significance (Apr 23, 2024)
17-56949906-A-G		not specified	Uncertain significance (Dec 01, 2022)
17-56949918-C-T		not specified	Likely benign (Dec 07, 2021)
17-56950154-C-T		not specified	Uncertain significance (Oct 06, 2021)
17-56950161-T-C		not specified	Uncertain significance (Sep 16, 2021)
17-56950187-C-A		not specified	Uncertain significance (Jun 24, 2022)
17-56950187-C-T		not specified	Uncertain significance (Oct 18, 2021)
17-56950188-G-A		not specified	Likely benign (Apr 25, 2023)
17-56950202-A-G		not specified	Uncertain significance (Aug 02, 2023)
17-56950223-A-T		not specified	Uncertain significance (Jan 16, 2024)
17-56950241-G-A		not specified	Uncertain significance (Feb 21, 2024)
17-56950356-T-C		not specified	Uncertain significance (Dec 17, 2023)
17-56950382-T-C		not specified	Uncertain significance (Apr 04, 2024)
17-56950408-C-T			Benign (Feb 25, 2018)
17-56950473-T-C		not specified	Uncertain significance (Jun 07, 2024)
17-56950505-G-T		not specified	Uncertain significance (Sep 06, 2022)
17-56950537-A-T		not specified	Uncertain significance (Sep 29, 2023)
17-56950587-G-C		not specified	Uncertain significance (Jun 07, 2024)
17-56950604-T-C		not specified	Uncertain significance (Feb 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
COIL	protein_coding	protein_coding	ENST00000240316	7	22868

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00943	0.990	125676	2	70	125748	0.000286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.167	299	307	0.973	0.0000152	3722
Missense in Polyphen		70	93.279	0.75044		1172
Synonymous	-0.558	125	117	1.07	0.00000600	1153
Loss of Function	3.07	8	24.4	0.328	0.00000126	319

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000756	0.000681
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000449	0.000404
Middle Eastern	0.0000544	0.0000544
South Asian	0.000168	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of nuclear coiled bodies, also known as Cajal bodies or CBs, which are involved in the modification and assembly of nucleoplasmic snRNPs. {ECO:0000269|PubMed:7679389}.
• Pathway: miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase (Consensus)

Recessive Scores

• pRec: 0.128

Intolerance Scores

• loftool: 0.299
• rvis_EVS: -0.36
• rvis_percentile_EVS: 29.31

Haploinsufficiency Scores

• pHI: 0.348
• hipred: Y
• hipred_score: 0.545
• ghis: 0.598

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.710

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Coil
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cellular phenotype

Zebrafish Information Network

• Gene name: coil
• Affected structure: cell
• Phenotype tag: abnormal
• Phenotype quality: dispersed

Gene ontology

• Cellular component: fibrillar center;nucleus;nucleoplasm;nucleolus;Cajal body;membrane;nuclear body
• Molecular function: protein binding;protein C-terminus binding;identical protein binding