CD300LG

CD300 molecule like family member g, the group of V-set domain containing

Basic information

Region (hg38): 17:43847148-43863639

Links

ENSG00000161649 ∙ NCBI:146894 ∙ OMIM:610520 ∙ HGNC:30455 ∙ Uniprot:Q6UXG3 ∙ 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 CD300LG gene.

• not_specified (60 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CD300LG gene is commonly pathogenic or not. These statistics are base on transcript: NM_000145273.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			57	4		61
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	57	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CD300LG	protein_coding	protein_coding	ENST00000317310	7	16482

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000736	0.929	125726	0	22	125748	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.181	199	192	1.04	0.0000112	2091
Missense in Polyphen		51	43.687	1.1674		521
Synonymous	0.0685	84	84.8	0.991	0.00000532	716
Loss of Function	1.61	7	13.3	0.525	5.67e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000455	0.000453
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000930	0.0000924
European (Non-Finnish)	0.0000530	0.0000527
Middle Eastern	0.000163	0.000163
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor which may mediate L-selectin-dependent lymphocyte rollings. Binds SELL in a calcium dependent manner. Binds lymphocyte (By similarity). {ECO:0000250}.
• Pathway: Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System (Consensus)

Intolerance Scores

• loftool: 0.902
• rvis_EVS: -0.29
• rvis_percentile_EVS: 33.34

Haploinsufficiency Scores

• pHI: 0.0600
• hipred: N
• hipred_score: 0.212
• ghis: 0.557

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0406

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cd300lg
• Phenotype: normal phenotype; hematopoietic system phenotype; skeleton phenotype

Gene ontology

• Biological process: immune system process;regulation of immune response
• Cellular component: plasma membrane;integral component of membrane;basolateral plasma membrane;apical plasma membrane;multivesicular body membrane
• Molecular function: protein binding