CELA3A

chymotrypsin like elastase 3A, the group of Chymotrypsin like elastases

Basic information

Region (hg38): 1:22001657-22012542

Previous symbols: [ "ELA3A" ]

Links

ENSG00000142789 ∙ NCBI:10136 ∙ OMIM:618693 ∙ HGNC:15944 ∙ Uniprot:P09093 ∙ 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 CELA3A gene.

• not_specified (53 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CELA3A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005747.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			48	6		54
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	8	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CELA3A	protein_coding	protein_coding	ENST00000290122	8	10884

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.05e-9	0.284	125467	2	212	125681	0.000852

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.790	196	167	1.17	0.0000100	1720
Missense in Polyphen		61	62.57	0.97491		672
Synonymous	-1.72	87	68.9	1.26	0.00000458	532
Loss of Function	0.637	14	16.8	0.832	9.15e-7	166

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00509	0.00509
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000328	0.000327
Finnish	0.00	0.00
European (Non-Finnish)	0.000396	0.000396
Middle Eastern	0.000328	0.000327
South Asian	0.0000653	0.0000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Efficient protease with alanine specificity but only little elastolytic activity.
• Pathway: Protein digestion and absorption - Homo sapiens (human);Pancreatic secretion - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.346
• rvis_EVS: -0.36
• rvis_percentile_EVS: 29.31

Haploinsufficiency Scores

• pHI: 0.694
• hipred: N
• hipred_score: 0.112
• ghis: 0.419

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.128

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cela3b

Gene ontology

• Biological process: proteolysis
• Cellular component: extracellular space
• Molecular function: serine-type endopeptidase activity