SELE

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

Basic information

Region (hg38): 1:169722639-169764705

Previous symbols: [ "ELAM1", "ELAM" ]

Links

ENSG00000007908 ∙ NCBI:6401 ∙ OMIM:131210 ∙ HGNC:10718 ∙ Uniprot:P16581 ∙ 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 SELE gene.

• Inborn genetic diseases (23 variants)
• not provided (11 variants)
• Coronary artery disorder (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SELE 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	3	4
missense			25	2	3	30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1		1	2
Total	0	0	26	3	7

Variants in SELE

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

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

Position	Type	Phenotype	Significance	ClinVar
1-169725794-G-C		not specified	Uncertain significance (Mar 11, 2022)
1-169726717-G-A		not specified	Uncertain significance (Dec 21, 2023)
1-169726729-G-A		Coronary artery disorder	Benign (May 12, 2022)
1-169726764-G-C		not specified	Uncertain significance (Jun 01, 2023)
1-169726804-G-A			Uncertain significance (Mar 30, 2021)
1-169727411-C-T		not specified	Uncertain significance (Dec 13, 2023)
1-169727504-G-A		not specified	Uncertain significance (Dec 18, 2023)
1-169727805-G-A		IgA nephropathy, susceptibility to	Uncertain significance (Jan 01, 2006)
1-169727817-C-G		not specified	Uncertain significance (Sep 16, 2021)
1-169727828-C-G		not specified	Uncertain significance (Jan 26, 2022)
1-169727892-C-T		not specified	Uncertain significance (Jul 26, 2021)
1-169727912-G-C		not specified	Uncertain significance (Feb 26, 2024)
1-169728076-C-G			Benign (Dec 31, 2019)
1-169728077-G-A			Benign (Jun 29, 2018)
1-169728090-C-G		not specified	Uncertain significance (Jan 18, 2022)
1-169728109-G-A		not specified	Uncertain significance (Nov 18, 2022)
1-169728127-A-G			Benign (Apr 10, 2018)
1-169728213-C-T		not specified	Uncertain significance (Dec 15, 2023)
1-169729245-G-T		not specified	Uncertain significance (Feb 27, 2023)
1-169729301-G-T			Uncertain significance (Mar 30, 2021)
1-169729309-C-T		not specified	Uncertain significance (Mar 27, 2023)
1-169729344-T-C		not specified	Uncertain significance (Jan 17, 2024)
1-169729479-C-A			Uncertain significance (Mar 30, 2021)
1-169729502-T-G			Likely benign (Aug 15, 2018)
1-169729506-C-T			Benign (May 31, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SELE	protein_coding	protein_coding	ENST00000333360	12	42066

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.91e-10	0.972	125676	0	62	125738	0.000247

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.125	333	327	1.02	0.0000160	4004
Missense in Polyphen		80	104.34	0.7667		1349
Synonymous	0.188	118	121	0.978	0.00000642	1123
Loss of Function	2.20	20	33.8	0.592	0.00000152	409

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000330	0.000329
Ashkenazi Jewish	0.000112	0.0000992
East Asian	0.000934	0.000925
Finnish	0.0000465	0.0000462
European (Non-Finnish)	0.000248	0.000246
Middle Eastern	0.000934	0.000925
South Asian	0.000196	0.000196
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cell-surface glycoprotein having a role in immunoadhesion. Mediates in the adhesion of blood neutrophils in cytokine-activated endothelium through interaction with SELPLG/PSGL1. May have a role in capillary morphogenesis. {ECO:0000269|PubMed:1689848, ECO:0000269|PubMed:28011641}.
• Pathway: Cell adhesion molecules (CAMs) - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);African trypanosomiasis - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);Malaria - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);TNF alpha Signaling Pathway;Human Complement System;Photodynamic therapy-induced NF-kB survival signaling;VEGFA-VEGFR2 Signaling Pathway;ATF-2 transcription factor network;Glucocorticoid receptor regulatory network;Cell surface interactions at the vascular wall;Hemostasis;Thromboxane A2 receptor signaling (Consensus)

Recessive Scores

• pRec: 0.535

Intolerance Scores

• loftool: 0.837
• rvis_EVS: 1.33
• rvis_percentile_EVS: 94.22

Haploinsufficiency Scores

• pHI: 0.0818
• hipred: N
• hipred_score: 0.147

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.691

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sele
• Phenotype: vision/eye phenotype; immune system phenotype; liver/biliary system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); normal 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); 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); hematopoietic system phenotype; growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: positive regulation of receptor internalization;leukocyte migration involved in inflammatory response;inflammatory response;heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules;leukocyte cell-cell adhesion;activation of phospholipase C activity;calcium-mediated signaling;actin filament-based process;response to lipopolysaccharide;response to tumor necrosis factor;regulation of inflammatory response;leukocyte migration;leukocyte tethering or rolling;response to interleukin-1
• Cellular component: extracellular space;plasma membrane;integral component of plasma membrane;caveola;clathrin-coated pit;cortical cytoskeleton;membrane raft;perinuclear region of cytoplasm
• Molecular function: transmembrane signaling receptor activity;protein binding;sialic acid binding;phospholipase binding;metal ion binding;oligosaccharide binding