CRNN

cornulin, the group of S100 fused type protein family|EF-hand domain containing

Basic information

Region (hg38): 1:152409243-152414263

Previous symbols: [ "C1orf10" ]

Links

ENSG00000143536 ∙ NCBI:49860 ∙ OMIM:611312 ∙ HGNC:1230 ∙ Uniprot:Q9UBG3 ∙ 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 CRNN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CRNN 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		1
missense			38	6		44
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	38	7	0

Variants in CRNN

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

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

Position	Type	Phenotype	Significance	ClinVar
1-152409601-T-C		not specified	Uncertain significance (Feb 07, 2023)
1-152409619-G-C		not specified	Uncertain significance (Feb 15, 2023)
1-152409646-C-T		not specified	Likely benign (Dec 26, 2023)
1-152409653-C-T		not specified	Uncertain significance (Dec 09, 2023)
1-152409658-G-A		not specified	Uncertain significance (Nov 11, 2024)
1-152409733-G-C		not specified	Uncertain significance (Aug 27, 2024)
1-152409847-G-A		not specified	Uncertain significance (Feb 27, 2025)
1-152409878-C-T		not specified	Uncertain significance (May 04, 2023)
1-152409892-T-A		not specified	Uncertain significance (Aug 01, 2022)
1-152409925-C-T		not specified	Likely benign (Dec 19, 2023)
1-152409971-C-T		not specified	Uncertain significance (Jan 22, 2024)
1-152409977-C-T		not specified	Uncertain significance (Jan 07, 2025)
1-152409978-G-A			Likely benign (Dec 09, 2017)
1-152410001-C-G		not specified	Uncertain significance (Jan 24, 2025)
1-152410063-T-C		not specified	Uncertain significance (Mar 11, 2025)
1-152410066-C-T		not specified	Uncertain significance (Aug 10, 2021)
1-152410081-C-A		not specified	Uncertain significance (May 13, 2024)
1-152410144-G-A		not specified	Uncertain significance (Dec 08, 2023)
1-152410151-C-G		not specified	Uncertain significance (Jan 09, 2023)
1-152410175-C-T		not specified	Uncertain significance (Jan 23, 2024)
1-152410178-C-T		not specified	Uncertain significance (Sep 11, 2024)
1-152410268-C-T		not specified	Likely benign (Jan 26, 2022)
1-152410304-C-A		not specified	Likely benign (Aug 05, 2024)
1-152410358-C-A		not specified	Uncertain significance (Oct 04, 2022)
1-152410372-C-G		not specified	Uncertain significance (Sep 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CRNN	protein_coding	protein_coding	ENST00000271835	2	5021

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000126	0.642	125714	0	32	125746	0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.497	283	260	1.09	0.0000136	3223
Missense in Polyphen		38	32.278	1.1773		455
Synonymous	-0.639	114	106	1.08	0.00000633	985
Loss of Function	0.775	7	9.59	0.730	5.08e-7	95

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000213	0.000213
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000132	0.000132
Middle Eastern	0.0000544	0.0000544
South Asian	0.000360	0.000359
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Survival factor that participates in the clonogenicity of squamous esophageal epithelium cell lines, attenuates deoxycholic acid (DCA)-induced apoptotic cell death and release of calcium. When overexpressed in oral squamous carcinom cell lines, regulates negatively cell proliferation by the induction of G1 arrest. {ECO:0000269|PubMed:15896671, ECO:0000269|PubMed:16640557}.

Recessive Scores

• pRec: 0.0851

Intolerance Scores

• loftool: 0.752
• rvis_EVS: 0.75
• rvis_percentile_EVS: 86.71

Haploinsufficiency Scores

• pHI: 0.201
• hipred: N
• hipred_score: 0.123
• ghis: 0.388

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0296

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Crnn

Gene ontology

• Biological process: response to heat;cell-cell adhesion
• Cellular component: cytoplasm;membrane;extracellular exosome
• Molecular function: calcium ion binding;transition metal ion binding