COL8A1

collagen type VIII alpha 1 chain, the group of C1q domain containing|Collagens

Basic information

Region (hg38): 3:99638474-99799226

Previous symbols: [ "C3orf7" ]

Links

ENSG00000144810 ∙ NCBI:1295 ∙ OMIM:120251 ∙ HGNC:2215 ∙ Uniprot:P27658 ∙ 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 COL8A1 gene.

• Inborn genetic diseases (20 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the COL8A1 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			21			21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	0	1

Variants in COL8A1

This is a list of pathogenic ClinVar variants found in the COL8A1 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-99762695-G-T			not provided (-)
3-99790696-C-A		not specified	Uncertain significance (Dec 13, 2023)
3-99790803-C-T		not specified	Uncertain significance (Jan 27, 2022)
3-99790866-C-T		not specified	Uncertain significance (Dec 01, 2023)
3-99790888-C-T		not specified	Uncertain significance (Oct 26, 2022)
3-99790895-C-A		COL8A1-related disorder	Likely benign (Feb 22, 2019)
3-99790956-G-A		not specified	Uncertain significance (Feb 16, 2023)
3-99790966-C-T		not specified	Uncertain significance (Jul 12, 2023)
3-99790969-C-T		COL8A1-related disorder	Likely benign (Jun 21, 2019)
3-99790992-G-A		not specified	Uncertain significance (Sep 06, 2022)
3-99790999-A-G		not specified	Uncertain significance (Sep 17, 2021)
3-99794574-C-G			Uncertain significance (Aug 12, 2019)
3-99794651-G-A		COL8A1-related disorder	Likely benign (Oct 25, 2019)
3-99794761-G-C		not specified	Uncertain significance (Feb 22, 2023)
3-99794802-A-G		not specified	Uncertain significance (Oct 02, 2023)
3-99794974-C-T		not specified	Uncertain significance (Aug 13, 2021)
3-99795129-C-T		COL8A1-related disorder	Benign (Aug 09, 2019)
3-99795357-G-A		not specified	Uncertain significance (Feb 28, 2024)
3-99795463-C-T		not specified	Uncertain significance (Jan 18, 2023)
3-99795504-C-G		not specified	Uncertain significance (Dec 03, 2021)
3-99795506-C-T			Benign (Jun 15, 2018)
3-99795522-C-A		not specified	Uncertain significance (Feb 28, 2024)
3-99795531-C-G		not specified	Uncertain significance (Mar 04, 2024)
3-99795673-G-C		not specified	Uncertain significance (Apr 20, 2023)
3-99795676-T-A		not specified	Uncertain significance (Feb 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
COL8A1	protein_coding	protein_coding	ENST00000261037	2	160752

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.405	0.595	125732	0	16	125748	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.44	337	420	0.802	0.0000214	4636
Missense in Polyphen		76	64.085	1.1859		711
Synonymous	0.480	157	165	0.952	0.00000945	1733
Loss of Function	3.08	4	18.2	0.220	9.22e-7	236

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000245	0.000239
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000807	0.0000791
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis. {ECO:0000269|PubMed:11708810}.
• Pathway: Assembly of collagen fibrils and other multimeric structures;Collagen chain trimerization;Collagen biosynthesis and modifying enzymes;Collagen formation;Extracellular matrix organization;Integrin (Consensus)

Recessive Scores

• pRec: 0.173

Intolerance Scores

• loftool: 0.0623
• rvis_EVS: -1.46
• rvis_percentile_EVS: 3.78

Haploinsufficiency Scores

• pHI: 0.431
• hipred: N
• hipred_score: 0.418
• ghis: 0.643

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.739

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Col8a1
• Phenotype: vision/eye phenotype

Zebrafish Information Network

• Gene name: col8a1a
• Affected structure: notochord outer sheath cell
• Phenotype tag: abnormal
• Phenotype quality: deformed

Gene ontology

• Biological process: angiogenesis;cell adhesion;positive regulation of cell-substrate adhesion;extracellular matrix organization;endodermal cell differentiation;camera-type eye morphogenesis;epithelial cell proliferation
• Cellular component: extracellular region;collagen type VIII trimer;extracellular space;endoplasmic reticulum lumen;extracellular matrix;collagen-containing extracellular matrix
• Molecular function: extracellular matrix structural constituent;protein binding;extracellular matrix structural constituent conferring tensile strength