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GeneBe

SELPLG

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

Basic information

Region (hg38): 12:108621894-108633894

Links

ENSG00000110876NCBI:6404OMIM:600738HGNC:10722Uniprot:Q14242AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SELPLG gene.

  • Inborn genetic diseases (17 variants)
  • not provided (4 variants)

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
1
clinvar
1
clinvar
2
missense
14
clinvar
3
clinvar
1
clinvar
18
nonsense
0
start loss
0
frameshift
0
inframe indel
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 14 4 3

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)3159687
12-108623139-G-A not specified Uncertain significance (Dec 13, 2021)2393248
12-108623152-T-C not specified Uncertain significance (Jul 05, 2023)2609507
12-108623227-C-G not specified Uncertain significance (Sep 20, 2023)3159686
12-108623244-C-T not specified Uncertain significance (Nov 21, 2022)2361084
12-108623245-G-A not specified Uncertain significance (Mar 12, 2024)3159685
12-108623269-G-A not specified Uncertain significance (Jan 02, 2024)3159684
12-108623303-G-A SELPLG-related condition Likely benign (Dec 23, 2019)3042773
12-108623359-C-T not specified Uncertain significance (Oct 26, 2021)2257338
12-108623395-C-T SELPLG-related condition Likely benign (Jan 11, 2021)3057867
12-108623396-G-A SELPLG-related condition Likely benign (Feb 20, 2019)756589
12-108623443-A-G not specified Likely benign (Nov 18, 2023)3159694
12-108623518-T-C not specified Uncertain significance (Mar 21, 2023)2509752
12-108623547-G-A not specified Uncertain significance (Jan 30, 2024)3159693
12-108623591-C-T Benign (Apr 25, 2018)718350
12-108623614-G-C not specified Uncertain significance (Jan 07, 2022)2270897
12-108623772-G-A not specified Uncertain significance (Jun 06, 2023)2558277
12-108623793-T-G not specified Uncertain significance (Oct 12, 2021)2254891
12-108623838-G-A Benign (Jul 17, 2018)787930
12-108623874-GGAGTGGTCTGTGCCTCCGTGGGCACTGGTT-G Benign (Aug 22, 2018)768578
12-108623892-G-A not specified Likely benign (Apr 05, 2023)2520905
12-108623982-A-T not specified Uncertain significance (Jan 31, 2022)2348769
12-108623983-T-C not specified Uncertain significance (Aug 12, 2021)2208051
12-108623984-G-A SELPLG-related condition Likely benign (Jul 31, 2019)3035787
12-108623997-G-A not specified Likely benign (Jul 12, 2022)2369024

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SELPLGprotein_codingprotein_codingENST00000228463 212050
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.1770.656124325021243270.00000804
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.09752462421.020.00001362700
Missense in Polyphen4148.3110.84868519
Synonymous-1.061161021.130.000006221005
Loss of Function0.86012.450.4081.04e-733

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00001790.0000179
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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