ENKUR

enkurin, TRPC channel interacting protein, the group of Cilia and flagella associated

Basic information

Region (hg38): 10:24981978-25062279

Previous symbols: [ "C10orf63" ]

Links

ENSG00000151023 ∙ NCBI:219670 ∙ OMIM:611025 ∙ HGNC:28388 ∙ Uniprot:Q8TC29 ∙ 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 ENKUR gene.

• Inborn genetic diseases (38 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENKUR 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						0
missense			9	2		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding			29	1		30
Total	0	0	38	3	0

Variants in ENKUR

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

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

Position	Type	Phenotype	Significance	ClinVar
10-24984815-T-C			Likely benign (Jul 01, 2022)
10-24984878-G-A		not specified	Uncertain significance (Oct 14, 2023)
10-24990489-C-T		not specified	Uncertain significance (Apr 07, 2022)
10-24990537-G-C		not specified	Uncertain significance (Apr 12, 2023)
10-24990568-C-A		not specified	Uncertain significance (Jan 17, 2023)
10-24990575-C-T		not specified	Uncertain significance (Dec 19, 2023)
10-24990617-G-T			Benign (Nov 09, 2018)
10-24995674-C-T		not specified	Uncertain significance (Feb 06, 2023)
10-24995702-C-T		not specified	Uncertain significance (Nov 23, 2022)
10-24995725-G-A		not specified	Uncertain significance (Oct 17, 2023)
10-24995830-A-C		not specified	Uncertain significance (May 11, 2022)
10-24995849-C-T		not specified	Likely benign (Dec 09, 2023)
10-24995869-TC-T			Uncertain significance (Dec 19, 2019)
10-24999446-T-C		not specified	Uncertain significance (Oct 05, 2023)
10-24999510-G-C		not specified	Uncertain significance (Jul 13, 2021)
10-24999514-T-C		not specified	Uncertain significance (Jun 24, 2022)
10-24999541-A-T			Likely benign (Jul 01, 2022)
10-25015893-G-C		not specified	Uncertain significance (Nov 15, 2021)
10-25023297-C-T		not specified	Uncertain significance (Feb 21, 2024)
10-25023330-C-T		not specified	Uncertain significance (Sep 13, 2023)
10-25023368-A-G		not specified	Uncertain significance (Nov 23, 2021)
10-25023424-G-A			Likely benign (Apr 01, 2022)
10-25023608-A-C		not specified	Uncertain significance (May 08, 2023)
10-25023657-T-C		not specified	Uncertain significance (Sep 17, 2021)
10-25023714-G-A		not specified	Uncertain significance (Jul 28, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENKUR	protein_coding	protein_coding	ENST00000331161	6	34182

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000707	0.754	125668	0	61	125729	0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0221	140	139	1.01	0.00000693	1711
Missense in Polyphen		35	33.886	1.0329		441
Synonymous	-0.419	48	44.4	1.08	0.00000240	443
Loss of Function	1.08	8	12.0	0.665	5.89e-7	165

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000310	0.000307
Ashkenazi Jewish	0.00	0.00
East Asian	0.000221	0.000217
Finnish	0.00148	0.00148
European (Non-Finnish)	0.000124	0.000123
Middle Eastern	0.000221	0.000217
South Asian	0.000168	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Adapter that functions to localize a calcium-sensitive signal transduction machinery in sperm to a calcium-permeable ion channel. {ECO:0000250}.

Intolerance Scores

• loftool: 0.406
• rvis_EVS: 0.77
• rvis_percentile_EVS: 87.01

Haploinsufficiency Scores

• pHI: 0.172
• hipred: N
• hipred_score: 0.197
• ghis: 0.404

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0306

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Enkur
• Phenotype: digestive/alimentary phenotype; immune system phenotype; liver/biliary system phenotype; growth/size/body region 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)

Gene ontology

• Cellular component: acrosomal vesicle;sperm principal piece
• Molecular function: calmodulin binding;SH3 domain binding