CLEC14A

C-type lectin domain containing 14A, the group of C-type lectin domain containing

Basic information

Region (hg38): 14:38254000-38256093

Previous symbols: [ "C14orf27" ]

Links

ENSG00000176435 ∙ NCBI:161198 ∙ OMIM:616845 ∙ HGNC:19832 ∙ Uniprot:Q86T13 ∙ 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 CLEC14A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLEC14A 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			48		1	49
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	48	0	2

Variants in CLEC14A

This is a list of pathogenic ClinVar variants found in the CLEC14A region.

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

Position	Type	Phenotype	Significance	ClinVar
14-38254585-G-T		not specified	Uncertain significance (Sep 13, 2023)
14-38254599-G-A		not specified	Uncertain significance (Oct 03, 2022)
14-38254621-C-T		not specified	Uncertain significance (Sep 14, 2022)
14-38254627-C-T		not specified	Uncertain significance (Dec 08, 2023)
14-38254831-C-T		not specified	Uncertain significance (Mar 07, 2024)
14-38254838-G-A			Benign (May 31, 2018)
14-38254869-G-A		not specified	Uncertain significance (May 30, 2024)
14-38254888-T-C		not specified	Uncertain significance (Mar 15, 2024)
14-38254909-G-C		not specified	Uncertain significance (Jan 08, 2024)
14-38254962-G-A		not specified	Uncertain significance (May 05, 2023)
14-38254983-G-A		not specified	Uncertain significance (Jan 26, 2023)
14-38254986-A-C		not specified	Uncertain significance (Jun 07, 2023)
14-38254996-T-C		not specified	Uncertain significance (Dec 05, 2024)
14-38254998-G-A		not specified	Uncertain significance (Oct 12, 2022)
14-38255001-G-A		not specified	Uncertain significance (Dec 27, 2023)
14-38255053-C-T		not specified	Uncertain significance (Apr 24, 2024)
14-38255101-C-G		not specified	Uncertain significance (Apr 23, 2024)
14-38255109-C-T		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
14-38255199-G-T		not specified	Uncertain significance (Jun 05, 2023)
14-38255200-T-C			Benign (May 31, 2018)
14-38255254-C-A		not specified	Uncertain significance (Oct 08, 2024)
14-38255301-T-A		not specified	Uncertain significance (Aug 08, 2023)
14-38255325-G-A		not specified	Uncertain significance (Jun 24, 2022)
14-38255329-C-G		not specified	Uncertain significance (Dec 20, 2023)
14-38255340-G-C		not specified	Uncertain significance (Aug 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CLEC14A	protein_coding	protein_coding	ENST00000342213	1	2267

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000143	0.653	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.127	272	278	0.979	0.0000136	3093
Missense in Polyphen		83	87.254	0.95124		1004
Synonymous	-1.78	149	124	1.20	0.00000649	1093
Loss of Function	0.929	9	12.6	0.717	5.90e-7	124

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.439
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.54

Haploinsufficiency Scores

• pHI: 0.168
• hipred: N
• hipred_score: 0.247
• ghis: 0.475

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.113

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Clec14a
• Phenotype: normal phenotype

Zebrafish Information Network

• Gene name: clec14a
• Affected structure: epicardium
• Phenotype tag: abnormal
• Phenotype quality: increased size

Gene ontology

• Biological process: cell migration involved in sprouting angiogenesis;cell migration
• Cellular component: external side of plasma membrane;integral component of membrane;collagen-containing extracellular matrix
• Molecular function: carbohydrate binding;extracellular matrix binding;extracellular matrix protein binding