IL17REL

interleukin 17 receptor E like

Basic information

Region (hg38): 22:49991810-50012765

Links

ENSG00000188263 ∙ NCBI:400935 ∙ OMIM:613414 ∙ HGNC:33808 ∙ Uniprot:Q6ZVW7 ∙ 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 IL17REL gene.

• Inborn genetic diseases (21 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL17REL 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	5		6
missense			17	3		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	8	0

Variants in IL17REL

This is a list of pathogenic ClinVar variants found in the IL17REL region.

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

Position	Type	Phenotype	Significance	ClinVar
22-49996755-T-G			Likely benign (Oct 01, 2023)
22-49996768-C-A			Likely benign (Oct 01, 2023)
22-49997357-T-C		not specified	Uncertain significance (Jan 04, 2022)
22-49997383-C-T		not specified	Uncertain significance (Dec 21, 2023)
22-49997401-C-T		not specified	Uncertain significance (Oct 13, 2023)
22-49997407-G-T		not specified	Uncertain significance (Apr 25, 2023)
22-49997413-G-A		not specified	Uncertain significance (Sep 01, 2021)
22-49997703-C-T		not specified	Uncertain significance (Jan 16, 2024)
22-49997714-C-T		not specified	Uncertain significance (Jul 26, 2021)
22-49998060-G-A		not specified	Uncertain significance (Oct 22, 2021)
22-49998181-C-T		not specified	Likely benign (Jan 26, 2022)
22-49998191-C-G			Likely benign (Oct 01, 2023)
22-49998235-C-T		not specified	Likely benign (May 16, 2023)
22-49998301-C-T		not specified	Uncertain significance (Jan 26, 2022)
22-49999298-A-C		not specified	Uncertain significance (Jan 10, 2022)
22-49999318-G-C		not specified	Uncertain significance (Aug 22, 2023)
22-49999447-G-A		not specified	Uncertain significance (May 08, 2023)
22-49999501-A-T		not specified	Uncertain significance (Sep 01, 2021)
22-49999855-G-A			Likely benign (Oct 01, 2023)
22-49999915-T-C			Likely benign (Feb 01, 2023)
22-49999961-T-G		not specified	Uncertain significance (Jan 26, 2022)
22-50000773-C-T		not specified	Likely benign (May 03, 2023)
22-50000812-G-C		not specified	Uncertain significance (Sep 13, 2023)
22-50000854-C-T		not specified	Uncertain significance (May 25, 2022)
22-50000861-G-A		not specified	Uncertain significance (Dec 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL17REL	protein_coding	protein_coding	ENST00000389983	11	18147

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00189	0.994	125666	0	24	125690	0.0000955

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.289	187	198	0.942	0.0000121	2118
Missense in Polyphen		55	58.386	0.94201		697
Synonymous	-0.698	95	86.7	1.10	0.00000551	682
Loss of Function	2.50	8	20.1	0.398	8.62e-7	220

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000443	0.000426
Ashkenazi Jewish	0.00	0.00
East Asian	0.000167	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000905	0.0000880
Middle Eastern	0.000167	0.000163
South Asian	0.0000655	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.375
• rvis_EVS: 0.6
• rvis_percentile_EVS: 82.74

Haploinsufficiency Scores

• pHI: 0.488
• hipred: N
• hipred_score: 0.419

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.313

Gene Damage Prediction

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

Gene ontology

• Biological process: cytokine-mediated signaling pathway
• Molecular function: interleukin-17 receptor activity