IGSF8

immunoglobulin superfamily member 8, the group of V-set domain containing|CD molecules

Basic information

Region (hg38): 1:160091340-160098943

Links

ENSG00000162729

∙ NCBI:93185 ∙ OMIM:606644 ∙ HGNC:17813 ∙ Uniprot:Q969P0 ∙ 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 IGSF8 gene.

not_specified (92 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IGSF8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000052868.6. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	1 clinvar	2
missense			91 clinvar			91
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	91	1	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IGSF8	protein_coding	protein_coding	ENST00000368086	6	7604

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.63e-11	0.566	125664	1	82	125747	0.000330

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.439	377	402	0.938	0.0000262	3786
Missense in Polyphen		182	198.83	0.91533		1866
Synonymous	0.765	153	166	0.924	0.00000977	1453
Loss of Function	1.35	20	27.6	0.724	0.00000191	235

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000537	0.000536
Ashkenazi Jewish	0.00	0.00
East Asian	0.000661	0.000653
Finnish	0.00	0.00
European (Non-Finnish)	0.000426	0.000413
Middle Eastern	0.000661	0.000653
South Asian	0.000295	0.000294
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: May play a key role in diverse functions ascribed to CD81 and CD9 such as oocytes fertilization or hepatitis C virus function. May regulate proliferation and differentiation of keratinocytes. May be a negative regulator of cell motility: suppresses T-cell mobility coordinately with CD81, associates with CD82 to suppress prostate cancer cell migration, regulates epidermoid cell reaggregation and motility on laminin-5 with CD9 and CD81 as key linkers. May also play a role on integrin- dependent morphology and motility functions. May participate in the regulation of neurite outgrowth and maintenance of the neural network in the adult brain. {ECO:0000269|PubMed:11504738, ECO:0000269|PubMed:12750295, ECO:0000269|PubMed:12752121, ECO:0000269|PubMed:14662754, ECO:0000269|PubMed:15070678}.;
Pathway: Beta1 integrin cell surface interactions;Alpha4 beta1 integrin signaling events (Consensus)

Recessive Scores

pRec: 0.122

Intolerance Scores

loftool: 0.837
rvis_EVS: -1.37
rvis_percentile_EVS: 4.43

Haploinsufficiency Scores

pHI: 0.205
hipred: N
hipred_score: 0.232
ghis: 0.617

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.794

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Igsf8
Phenotype

Gene ontology

Biological process: single fertilization;nervous system development;skeletal muscle tissue development;cell population proliferation;cell motility
Cellular component: plasma membrane;membrane;integral component of membrane;extracellular exosome
Molecular function: protein binding