SELPLG

selectin P ligand, the group of Receptor ligands|CD molecules

Basic information

Region (hg38): 12:108620413-108633894

Links

ENSG00000110876 ∙ NCBI:6404 ∙ OMIM:600738 ∙ HGNC:10722 ∙ Uniprot:Q14242 ∙ 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 SELPLG gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SELPLG 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				4	1	5
missense			22	5	2	29
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	9	4

Variants in SELPLG

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

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

Position	Type	Phenotype	Significance	ClinVar
12-108623095-G-A		not specified	Uncertain significance (Jan 24, 2024)
12-108623139-G-A		not specified	Uncertain significance (Dec 13, 2021)
12-108623152-T-C		not specified	Uncertain significance (Jul 05, 2023)
12-108623164-C-T		not specified	Uncertain significance (Mar 28, 2024)
12-108623227-C-G		not specified	Uncertain significance (Sep 20, 2023)
12-108623244-C-T		not specified	Uncertain significance (Nov 21, 2022)
12-108623245-G-A		not specified	Uncertain significance (Mar 12, 2024)
12-108623269-G-A		not specified	Uncertain significance (Jan 02, 2024)
12-108623303-G-A		SELPLG-related disorder	Likely benign (Dec 23, 2019)
12-108623359-C-T		not specified	Uncertain significance (Oct 26, 2021)
12-108623395-C-T		SELPLG-related disorder	Likely benign (Jan 11, 2021)
12-108623396-G-A		SELPLG-related disorder	Likely benign (Jul 31, 2018)
12-108623443-A-G		not specified	Likely benign (Nov 18, 2023)
12-108623518-T-C		not specified	Uncertain significance (Mar 21, 2023)
12-108623547-G-A		not specified	Uncertain significance (Jan 30, 2024)
12-108623591-C-T			Benign (Apr 25, 2018)
12-108623614-G-C		not specified	Uncertain significance (Jan 07, 2022)
12-108623772-G-A		not specified	Uncertain significance (Jun 06, 2023)
12-108623782-G-A		not specified	Uncertain significance (Apr 09, 2024)
12-108623793-T-G		not specified	Uncertain significance (Oct 12, 2021)
12-108623832-G-A		not specified	Uncertain significance (Apr 01, 2024)
12-108623838-G-A			Benign (Jul 17, 2018)
12-108623874-GGAGTGGTCTGTGCCTCCGTGGGCACTGGTT-G			Benign (Aug 22, 2018)
12-108623892-G-A		not specified	Likely benign (Apr 05, 2023)
12-108623982-A-T		not specified	Uncertain significance (Jan 31, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SELPLG	protein_coding	protein_coding	ENST00000228463	2	12050

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.177	0.656	124325	0	2	124327	0.00000804

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0975	246	242	1.02	0.0000136	2700
Missense in Polyphen		41	48.311	0.84868		519
Synonymous	-1.06	116	102	1.13	0.00000622	1005
Loss of Function	0.860	1	2.45	0.408	1.04e-7	33

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000179	0.0000179
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: A SLe(x)-type proteoglycan, which through high affinity, calcium-dependent interactions with E-, P- and L-selectins, mediates rapid rolling of leukocytes over vascular surfaces during the initial steps in inflammation. Critical for the initial leukocyte capture. {ECO:0000269|PubMed:11566773, ECO:0000269|PubMed:12403782}.
• Pathway: Cell adhesion molecules (CAMs) - Homo sapiens (human);Staphylococcus aureus infection - Homo sapiens (human);Human Complement System;Cell surface interactions at the vascular wall;Hemostasis;amb2 Integrin signaling (Consensus)

Recessive Scores

• pRec: 0.132

Intolerance Scores

• loftool: 0.784
• rvis_EVS: 1.22
• rvis_percentile_EVS: 93.19

Haploinsufficiency Scores

• pHI: 0.0250
• hipred: N
• hipred_score: 0.310
• ghis: 0.417

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.859

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Selplg
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); renal/urinary system phenotype; immune system phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: cell adhesion;viral entry into host cell;leukocyte migration;leukocyte tethering or rolling;leukocyte adhesive activation;cellular response to interleukin-6
• Cellular component: uropod;plasma membrane;integral component of plasma membrane;membrane;integral component of membrane;plasma membrane raft
• Molecular function: virus receptor activity;signaling receptor binding;protein binding