KPRP

keratinocyte proline rich protein

Basic information

Region (hg38): 1:152758025-152762056

Previous symbols: [ "C1orf45" ]

Links

ENSG00000203786 ∙ NCBI:448834 ∙ OMIM:613260 ∙ HGNC:31823 ∙ Uniprot:Q5T749 ∙ 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 KPRP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KPRP 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			41	1	1	43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	41	1	1

Variants in KPRP

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

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

Position	Type	Phenotype	Significance	ClinVar
1-152759617-G-T		not specified	Uncertain significance (Jun 06, 2023)
1-152759640-G-T		not specified	Uncertain significance (Nov 08, 2022)
1-152759655-T-G		not specified	Uncertain significance (Sep 21, 2021)
1-152759671-C-G		not specified	Uncertain significance (Jul 20, 2021)
1-152759704-C-T		not specified	Uncertain significance (Aug 04, 2021)
1-152759781-T-C		not specified	Uncertain significance (Feb 23, 2023)
1-152759985-G-A		not specified	Uncertain significance (Oct 20, 2021)
1-152759985-G-C		not specified	Uncertain significance (Apr 28, 2022)
1-152760007-A-T		not specified	Uncertain significance (Jan 03, 2024)
1-152760060-G-C		not specified	Uncertain significance (Feb 28, 2024)
1-152760078-A-G		not specified	Uncertain significance (Jan 03, 2024)
1-152760090-C-T		not specified	Likely benign (Jan 26, 2023)
1-152760097-C-T		not specified	Uncertain significance (Nov 29, 2024)
1-152760172-T-C		not specified	Uncertain significance (Oct 14, 2023)
1-152760274-C-T		not specified	Uncertain significance (Nov 18, 2022)
1-152760285-C-G		not specified	Uncertain significance (Jun 16, 2023)
1-152760289-G-A		not specified	Uncertain significance (Jun 25, 2024)
1-152760306-T-A		not specified	Uncertain significance (Aug 12, 2024)
1-152760331-G-A		Malignant tumor of prostate • not specified	Uncertain significance (May 26, 2023)
1-152760341-C-G		not specified	Uncertain significance (Jul 12, 2022)
1-152760358-C-G		not specified	Uncertain significance (Jul 14, 2024)
1-152760385-C-A		not specified	Uncertain significance (Aug 21, 2023)
1-152760388-G-A		not specified	Uncertain significance (Jun 02, 2023)
1-152760413-T-A		Malignant tumor of prostate	Uncertain significance (-)
1-152760417-C-T		not specified	Uncertain significance (Aug 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
KPRP	protein_coding	protein_coding	ENST00000368773	1	4024

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.08e-12	0.0116	125688	1	59	125748	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.502	375	349	1.08	0.0000221	3690
Missense in Polyphen		111	102.32	1.0849		1012
Synonymous	0.0380	126	127	0.996	0.00000699	1221
Loss of Function	-0.732	16	13.1	1.22	5.82e-7	151

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000904	0.000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000141	0.000141
Middle Eastern	0.0000544	0.0000544
South Asian	0.000425	0.000392
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0739

Intolerance Scores

• loftool: 0.949
• rvis_EVS: 2.49
• rvis_percentile_EVS: 98.64

Haploinsufficiency Scores

• pHI: 0.191
• hipred: N
• hipred_score: 0.123
• ghis: 0.424

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0278

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Kprp

Gene ontology

• Cellular component: cytoplasm;extracellular exosome
• Molecular function: protein binding