VSIG8

V-set and immunoglobulin domain containing 8, the group of V-set domain containing|IgCAM CXADR-related subfamily

Basic information

Region (hg38): 1:159854316-159862657

Links

ENSG00000243284 ∙ NCBI:391123 ∙ ∙ HGNC:32063 ∙ Uniprot:P0DPA2 ∙ 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 VSIG8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VSIG8 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						0
missense			19	2		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	19	2	0

Variants in VSIG8

This is a list of pathogenic ClinVar variants found in the VSIG8 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-159854838-G-A		not specified	Uncertain significance (Apr 11, 2023)
1-159854860-C-T		not specified	Uncertain significance (Jan 31, 2022)
1-159854898-C-T		not specified	Uncertain significance (Mar 19, 2024)
1-159854907-G-C		not specified	Uncertain significance (Nov 03, 2022)
1-159854920-A-T		not specified	Uncertain significance (Mar 21, 2023)
1-159854925-C-A		not specified	Uncertain significance (Dec 03, 2021)
1-159854956-G-A		not specified	Uncertain significance (Mar 06, 2023)
1-159855938-C-T		not specified	Likely benign (Aug 17, 2022)
1-159855968-C-T		not specified	Uncertain significance (Jun 21, 2023)
1-159856013-C-T		not specified	Uncertain significance (Dec 15, 2022)
1-159856049-C-T		not specified	Likely benign (May 30, 2023)
1-159856063-A-T		not specified	Uncertain significance (Apr 07, 2022)
1-159856072-C-T		not specified	Uncertain significance (Mar 02, 2023)
1-159856628-T-A		not specified	Uncertain significance (Aug 26, 2022)
1-159857825-C-T		not specified	Uncertain significance (Nov 13, 2023)
1-159857841-G-A		not specified	Uncertain significance (May 16, 2024)
1-159857892-C-T		not specified	Uncertain significance (Feb 11, 2022)
1-159857913-C-T		not specified	Uncertain significance (Oct 26, 2022)
1-159858245-T-C		not specified	Uncertain significance (Mar 27, 2023)
1-159858799-G-A		not specified	Uncertain significance (Jan 10, 2023)
1-159858862-G-C		not specified	Uncertain significance (Sep 07, 2022)
1-159858886-C-T		not specified	Uncertain significance (Jun 28, 2023)
1-159858894-C-T		not specified	Uncertain significance (Apr 18, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
VSIG8	protein_coding	protein_coding	ENST00000368100	7	8342

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000202	0.979	125730	0	18	125748	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.855	197	234	0.843	0.0000137	2621
Missense in Polyphen		60	83.983	0.71443		951
Synonymous	-0.872	119	108	1.11	0.00000712	865
Loss of Function	2.05	9	18.5	0.485	0.00000104	191

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000546	0.0000544
Finnish	0.000231	0.000231
European (Non-Finnish)	0.0000704	0.0000703
Middle Eastern	0.0000546	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0940

Intolerance Scores

• loftool: 0.781
• rvis_EVS: 0.11
• rvis_percentile_EVS: 61.73

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.242

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.658

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Vsig8
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: RNA binding