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GeneBe

SELP

selectin P, the group of CD molecules|Sushi domain containing|Selectins|C-type lectin domain containing

Basic information

Region (hg38): 1:169588848-169630193

Previous symbols: [ "GRMP" ]

Links

ENSG00000174175NCBI:6403OMIM:173610HGNC:10721Uniprot:P16109AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • Inborn genetic diseases (33 variants)
  • not provided (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SELP 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
2
clinvar
2
clinvar
4
missense
35
clinvar
3
clinvar
3
clinvar
41
nonsense
1
clinvar
1
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
0
Total 0 0 36 5 5

Variants in SELP

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

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

Position Type Phenotype Significance ClinVar
1-169590158-G-A not specified Uncertain significance (Dec 13, 2023)2363826
1-169590176-G-A not specified Uncertain significance (Jun 29, 2023)2608363
1-169593647-C-A not specified Uncertain significance (Sep 14, 2022)2371506
1-169593647-C-T not specified Uncertain significance (May 17, 2023)2547566
1-169593660-A-C Likely benign (Jun 23, 2018)755657
1-169593666-C-T SELP-related condition Benign (Oct 21, 2019)3059830
1-169593711-A-G Benign (Jun 26, 2018)775623
1-169594707-C-A not specified Uncertain significance (Feb 05, 2024)3159679
1-169594713-T-G SELECTIN P POLYMORPHISM • SELP-related condition Benign (Nov 15, 2019)13527
1-169594856-T-G not specified Uncertain significance (Apr 25, 2022)2285965
1-169594860-G-C not specified Uncertain significance (Jun 13, 2023)2560013
1-169595955-G-T not specified Uncertain significance (Apr 25, 2022)2376478
1-169595987-C-T not specified Uncertain significance (Jan 04, 2024)3159678
1-169595990-A-G not specified Uncertain significance (Feb 28, 2023)2462811
1-169596006-C-T not specified Uncertain significance (Nov 09, 2021)2409464
1-169596007-G-A Likely benign (Apr 04, 2018)738809
1-169596008-T-C Benign (Jul 13, 2018)782395
1-169596062-C-T not specified Uncertain significance (Sep 14, 2023)2591207
1-169596104-T-C not specified Likely benign (Aug 01, 2022)2355161
1-169596108-C-A SELP-related condition Benign (Nov 06, 2019)3056507
1-169596108-C-G SELECTIN P POLYMORPHISM Benign (Sep 01, 2003)13528
1-169597003-G-T Uncertain significance (Mar 30, 2021)992522
1-169597027-A-C Benign (Jul 13, 2018)777955
1-169597070-G-A SELP-related condition Benign (Nov 06, 2019)3055528
1-169597075-C-T SELP-related condition Benign (Oct 17, 2019)3059039

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SELPprotein_codingprotein_codingENST00000263686 1641345
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
5.04e-320.000017212515645881257480.00236
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.2564744591.030.00002395425
Missense in Polyphen160157.491.0161910
Synonymous-0.6681851741.060.000009891564
Loss of Function-0.2154745.41.030.00000209544

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001650.00165
Ashkenazi Jewish0.00009950.0000992
East Asian0.0004460.000435
Finnish0.01220.0122
European (Non-Finnish)0.001600.00159
Middle Eastern0.0004460.000435
South Asian0.004010.00278
Other0.002630.00245

dbNSFP

Source: dbNSFP

Function
FUNCTION: Ca(2+)-dependent receptor for myeloid cells that binds to carbohydrates on neutrophils and monocytes. Mediates the interaction of activated endothelial cells or platelets with leukocytes. The ligand recognized is sialyl-Lewis X. Mediates rapid rolling of leukocyte rolling over vascular surfaces during the initial steps in inflammation through interaction with SELPLG. {ECO:0000269|PubMed:11081633, ECO:0000269|PubMed:28011641, ECO:0000269|PubMed:7585950}.;
Pathway
Cell adhesion molecules (CAMs) - Homo sapiens (human);Malaria - Homo sapiens (human);Staphylococcus aureus infection - Homo sapiens (human);Spinal Cord Injury;Human Complement System;Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Cell surface interactions at the vascular wall;Hemostasis;amb2 Integrin signaling;IL4-mediated signaling events (Consensus)

Recessive Scores

pRec
0.530

Intolerance Scores

loftool
0.937
rvis_EVS
1.01
rvis_percentile_EVS
90.81

Haploinsufficiency Scores

pHI
0.0586
hipred
N
hipred_score
0.146
ghis
0.423

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.537

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Selp
Phenotype
growth/size/body region 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); homeostasis/metabolism phenotype; cellular phenotype; vision/eye phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); respiratory system phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; skeleton phenotype; renal/urinary system phenotype;

Zebrafish Information Network

Gene name
selp
Affected structure
intermediate cell mass of mesoderm
Phenotype tag
abnormal
Phenotype quality
decreased amount

Gene ontology

Biological process
platelet degranulation;positive regulation of leukocyte migration;inflammatory response;cell adhesion;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;leukocyte cell-cell adhesion;positive regulation of platelet activation;positive regulation of phosphatidylinositol 3-kinase signaling;calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules;response to lipopolysaccharide;regulation of integrin activation;calcium-mediated signaling using intracellular calcium source;defense response to Gram-negative bacterium;leukocyte migration;leukocyte tethering or rolling
Cellular component
extracellular space;plasma membrane;integral component of plasma membrane;external side of plasma membrane;platelet dense granule membrane;platelet alpha granule membrane
Molecular function
lipopolysaccharide binding;calcium ion binding;protein binding;heparin binding;sialic acid binding;fucose binding;glycosphingolipid binding;calcium-dependent protein binding;oligosaccharide binding