SLAMF8

SLAM family member 8, the group of Immunoglobulin like domain containing|CD molecules

Basic information

Region (hg38): 1:159826811-159837492

Links

ENSG00000158714

∙ NCBI:56833 ∙ OMIM:606620 ∙ HGNC:21391 ∙ Uniprot:Q9P0V8 ∙ 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 SLAMF8 gene.

not_specified (43 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLAMF8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020125.3. 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						0
missense			39 clinvar	4 clinvar		43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	4	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLAMF8	protein_coding	protein_coding	ENST00000289707	5	10500

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000534	0.680	124763	24	961	125748	0.00392

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.289	172	162	1.06	0.00000880	1825
Missense in Polyphen		21	30.078	0.69819		370
Synonymous	0.309	66	69.3	0.953	0.00000404	609
Loss of Function	1.04	10	14.2	0.704	8.66e-7	120

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00108	0.00108
Ashkenazi Jewish	0.00238	0.00228
East Asian	0.0443	0.0439
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000853	0.000853
Middle Eastern	0.0443	0.0439
South Asian	0.000690	0.000686
Other	0.00293	0.00294

dbNSFP

Source: dbNSFP

Function: FUNCTION: May play a role in B-lineage commitment and/or modulation of signaling through the B-cell receptor. {ECO:0000269|PubMed:11313408}.;

Recessive Scores

pRec: 0.106

Intolerance Scores

loftool: 0.932
rvis_EVS: 0
rvis_percentile_EVS: 53.85

Haploinsufficiency Scores

pHI: 0.148
hipred: N
hipred_score: 0.123
ghis: 0.428

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.185

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Slamf8
Phenotype: immune system phenotype; hematopoietic system phenotype;

Gene ontology

Biological process: leukocyte chemotaxis involved in inflammatory response;B-1 B cell lineage commitment;negative regulation of macrophage chemotaxis;regulation of NAD(P)H oxidase activity;cellular response to drug;defense response to bacterium;regulation of kinase activity;regulation of B cell differentiation;negative regulation of respiratory burst involved in inflammatory response;negative regulation of monocyte chemotaxis;phagosome acidification;negative regulation of neutrophil migration;negative regulation of dendritic cell chemotaxis
Cellular component: cell surface;integral component of membrane
Molecular function: signaling receptor activity;identical protein binding