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.

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.

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			29	3		32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	3	0

Variants in SLAMF8

This is a list of pathogenic ClinVar variants found in the SLAMF8 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-159826921-G-A		not specified	Uncertain significance (Sep 19, 2022)
1-159829881-C-T		not specified	Uncertain significance (Nov 09, 2022)
1-159829898-G-A		not specified	Uncertain significance (Feb 12, 2024)
1-159829916-G-A		not specified	Uncertain significance (Sep 16, 2021)
1-159829917-G-A		not specified	Likely benign (Mar 31, 2023)
1-159829920-C-T		not specified	Uncertain significance (Dec 25, 2024)
1-159829944-C-G		not specified	Uncertain significance (May 31, 2023)
1-159829953-T-C		not specified	Uncertain significance (Feb 23, 2023)
1-159829962-G-A		not specified	Uncertain significance (Jun 02, 2024)
1-159830042-C-T		not specified	Uncertain significance (Feb 28, 2024)
1-159830049-G-A		not specified	Uncertain significance (Aug 21, 2024)
1-159830060-C-G		not specified	Uncertain significance (Mar 27, 2023)
1-159830096-G-A		not specified	Likely benign (Jan 26, 2022)
1-159830099-C-A		not specified	Uncertain significance (Dec 09, 2024)
1-159830123-A-C		not specified	Uncertain significance (Feb 27, 2023)
1-159830185-G-C		not specified	Uncertain significance (Feb 07, 2025)
1-159832914-G-A		not specified	Uncertain significance (Jun 16, 2023)
1-159832921-G-A		not specified	Uncertain significance (Aug 09, 2021)
1-159832944-T-G		not specified	Uncertain significance (Apr 09, 2024)
1-159832983-G-A		not specified	Uncertain significance (Dec 02, 2024)
1-159833002-G-A		not specified	Uncertain significance (Jan 29, 2024)
1-159833004-C-T		not specified	Uncertain significance (Jan 26, 2023)
1-159833005-G-T		not specified	Uncertain significance (Jul 13, 2021)
1-159833021-C-G		not specified	Uncertain significance (Dec 02, 2021)
1-159833037-C-T		not specified	Uncertain significance (May 20, 2024)

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