CELA1

chymotrypsin like elastase 1, the group of Chymotrypsin like elastases

Basic information

Region (hg38): 12:51328442-51346679

Previous symbols: [ "ELA1" ]

Links

ENSG00000139610 ∙ NCBI:1990 ∙ OMIM:130120 ∙ HGNC:3308 ∙ Uniprot:Q9UNI1 ∙ 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 CELA1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CELA1 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			18	1		19
nonsense						0
start loss						0
frameshift					2	2
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	1	2

Variants in CELA1

This is a list of pathogenic ClinVar variants found in the CELA1 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-51329713-C-T		not specified	Uncertain significance (Nov 17, 2022)
12-51329728-T-C		not specified	Uncertain significance (Jun 17, 2022)
12-51329753-C-T		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
12-51329781-T-C		not specified	Uncertain significance (Apr 13, 2023)
12-51329800-T-C		not specified	Uncertain significance (Jul 13, 2021)
12-51329830-C-T		not specified	Uncertain significance (Dec 09, 2023)
12-51339870-G-C		not specified	Uncertain significance (Dec 21, 2023)
12-51339873-C-T		not specified	Likely benign (Dec 15, 2022)
12-51339948-G-A		not specified	Uncertain significance (Jun 17, 2024)
12-51339964-G-T		not specified	Uncertain significance (Jul 13, 2021)
12-51340000-C-T		not specified	Uncertain significance (Jul 13, 2021)
12-51341370-C-T		not specified	Uncertain significance (Nov 09, 2022)
12-51342603-A-G		not specified	Uncertain significance (Jan 23, 2024)
12-51342626-A-G		not specified	Uncertain significance (Jun 09, 2022)
12-51342633-C-T		not specified	Uncertain significance (Apr 07, 2023)
12-51342636-A-G		not specified	Uncertain significance (Jul 13, 2021)
12-51342684-C-T		not specified	Uncertain significance (Feb 23, 2023)
12-51342686-C-T		not specified	Uncertain significance (Jul 19, 2023)
12-51342698-T-C		not specified	Uncertain significance (Feb 28, 2023)
12-51343757-C-T		not specified	Uncertain significance (Jun 10, 2022)
12-51343801-G-T		not specified	Uncertain significance (Jan 23, 2024)
12-51346629-G-GC		not specified	Benign (Mar 28, 2016)
12-51346630-GAC-G		not specified	Benign (Apr 25, 2016)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CELA1	protein_coding	protein_coding	ENST00000293636	8	18237

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000239	0.929	77253	7435	41058	125746	0.216

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.704	127	151	0.839	0.00000857	1649
Missense in Polyphen		49	56.082	0.87373		613
Synonymous	-0.202	64	62.0	1.03	0.00000366	518
Loss of Function	1.62	8	14.7	0.543	6.27e-7	165

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.276	0.275
Ashkenazi Jewish	0.268	0.261
East Asian	0.0378	0.0373
Finnish	0.223	0.221
European (Non-Finnish)	0.302	0.296
Middle Eastern	0.0378	0.0373
South Asian	0.172	0.168
Other	0.258	0.252

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts upon elastin.

Recessive Scores

• pRec: 0.564

Intolerance Scores

• loftool: 0.291
• rvis_EVS: 0.49
• rvis_percentile_EVS: 79.38

Haploinsufficiency Scores

• pHI: 0.102
• hipred: N
• hipred_score: 0.218
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0544

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cela1

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;proteolysis;inflammatory response;post-embryonic development;Wnt signaling pathway;exocrine pancreas development;multicellular organism growth;regulation of cell population proliferation;regulation of cell differentiation;positive regulation of angiogenesis;positive regulation of transcription by RNA polymerase II;tissue remodeling;elastin catabolic process;pancreas morphogenesis
• Cellular component: extracellular space
• Molecular function: serine-type endopeptidase activity;metal ion binding