CELA3B

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

Basic information

Region (hg38): 1:21977022-21998642

Previous symbols: [ "ELA3B" ]

Links

ENSG00000219073 ∙ NCBI:23436 ∙ OMIM:618694 ∙ HGNC:15945 ∙ Uniprot:P08861 ∙ 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 CELA3B gene.

• not_specified (44 variants)
• not_provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CELA3B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007352.4. 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				1	3	4
missense			41	6	1	48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)				1		1
Total	0	0	41	8	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CELA3B	protein_coding	protein_coding	ENST00000337107	8	21622

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.44e-12	0.0195	125438	0	309	125747	0.00123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.809	208	178	1.17	0.0000112	1730
Missense in Polyphen		83	68.16	1.2177		724
Synonymous	-0.737	80	72.0	1.11	0.00000508	542
Loss of Function	-0.342	17	15.5	1.09	7.62e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000933	0.000933
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00471	0.00472
European (Non-Finnish)	0.00141	0.00141
Middle Eastern	0.00	0.00
South Asian	0.000360	0.000327
Other	0.00114	0.00114

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)

Intolerance Scores

• loftool: 0.276
• rvis_EVS: 1.73
• rvis_percentile_EVS: 96.6

Haploinsufficiency Scores

• pHI: 0.263
• hipred: N
• hipred_score: 0.148

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.401

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;peptidase activity