KEL

Kell metallo-endopeptidase (Kell blood group), the group of Blood group antigens|CD molecules|M13 metallopeptidases

Basic information

Region (hg38): 7:142941114-142962363

Links

ENSG00000197993 ∙ NCBI:3792 ∙ OMIM:613883 ∙ HGNC:6308 ∙ Uniprot:P23276 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Blood group, Kell system	BG	Hematologic	Variants associated with a blood group may be important in specific situations (eg, related to transfusion)	Hematologic	7849312; 11134029; 12842980; 15373667; 16423827

ClinVar

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

• Kell blood group system (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KEL 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				3	4	7
missense			41	4	1	46
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)	1					1
splice region				2	1	3
non coding						0
Total	1	0	41	7	5

Variants in KEL

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

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

Position	Type	Phenotype	Significance	ClinVar
7-142941268-C-A		not specified	Uncertain significance (Apr 28, 2022)
7-142941305-G-A		not specified	Uncertain significance (Sep 22, 2021)
7-142941310-T-A		not specified	Uncertain significance (Sep 14, 2022)
7-142941345-G-A			Likely benign (Apr 01, 2023)
7-142941365-G-A		not specified	Uncertain significance (Oct 06, 2021)
7-142941370-T-C		not specified	Uncertain significance (Oct 01, 2024)
7-142941386-C-A		not specified	Uncertain significance (Apr 09, 2024)
7-142942466-G-T		not specified	Uncertain significance (Dec 05, 2022)
7-142942529-C-T		not specified	Uncertain significance (Sep 27, 2021)
7-142942882-G-A		Kell blood group system	Affects (Jul 01, 2021)
7-142942882-G-T		not specified	Uncertain significance (Jul 26, 2022)
7-142942883-C-A		not specified	Uncertain significance (Apr 28, 2023)
7-142942917-T-C		KEL-related disorder	Benign (Dec 18, 2019)
7-142942981-T-C		not specified	Uncertain significance (Jan 02, 2024)
7-142943026-A-G		Kel6 antigen	Benign (May 04, 2017)
7-142943285-A-G		not specified	Uncertain significance (Dec 20, 2023)
7-142943327-C-T		Kell blood group system • not specified	Uncertain significance (Oct 05, 2023)
7-142943481-C-T		KEL-related disorder	Likely benign (Feb 20, 2019)
7-142943509-T-G		KEL-related disorder	Benign (Nov 25, 2019)
7-142943556-C-A		not specified	Uncertain significance (Nov 15, 2021)
7-142943574-C-T			Likely benign (May 21, 2018)
7-142943589-C-T		not specified	Uncertain significance (Apr 25, 2022)
7-142943600-T-A		KEL-related disorder	Benign (Jun 27, 2019)
7-142943793-G-T		not specified	Uncertain significance (Oct 05, 2023)
7-142943829-G-T			Benign (May 21, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KEL	protein_coding	protein_coding	ENST00000355265	19	21568

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.12e-21	0.0287	125555	2	191	125748	0.000768

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.648	449	412	1.09	0.0000253	4778
Missense in Polyphen		124	117.33	1.0569		1482
Synonymous	-0.0906	164	163	1.01	0.00000989	1444
Loss of Function	1.06	36	43.5	0.827	0.00000265	452

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000629	0.000629
Ashkenazi Jewish	0.00	0.00
East Asian	0.00109	0.00109
Finnish	0.00181	0.00157
European (Non-Finnish)	0.000772	0.000756
Middle Eastern	0.00109	0.00109
South Asian	0.00105	0.00101
Other	0.00103	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Zinc endopeptidase with endothelin-3-converting enzyme activity. Cleaves EDN1, EDN2 and EDN3, with a marked preference for EDN3. {ECO:0000269|PubMed:10438732}.
• Pathway: Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding (Consensus)

Recessive Scores

• pRec: 0.218

Intolerance Scores

• loftool: 0.234
• rvis_EVS: -1.43
• rvis_percentile_EVS: 4

Haploinsufficiency Scores

• pHI: 0.243
• hipred: N
• hipred_score: 0.123
• ghis: 0.452

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.849

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Kel
• Phenotype: muscle phenotype; homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Gene ontology

• Biological process: proteolysis;cellular calcium ion homeostasis;regulation of cell size;cellular magnesium ion homeostasis;regulation of axon diameter;vasoconstriction;myelination;skeletal muscle fiber development;negative regulation of potassium ion transmembrane transport
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: metalloendopeptidase activity;protein binding;metal ion binding