CELA2B

chymotrypsin like elastase 2B, the group of Chymotrypsin like elastases

Basic information

Region (hg38): 1:15465909-15491395

Links

ENSG00000215704 ∙ NCBI:51032 ∙ OMIM:609444 ∙ HGNC:29995 ∙ Uniprot:P08218 ∙ 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 CELA2B gene.

• not_specified (49 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CELA2B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015849.3. 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	1	2
missense			41	7		48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	41	8	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CELA2B	protein_coding	protein_coding	ENST00000375910	8	25492

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000257	0.759	125532	1	214	125747	0.000855

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.430	183	167	1.09	0.0000101	1739
Missense in Polyphen		72	61.311	1.1743		678
Synonymous	-1.02	89	77.5	1.15	0.00000573	535
Loss of Function	1.23	11	16.4	0.672	8.01e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000937	0.000937
Ashkenazi Jewish	0.00	0.00
East Asian	0.00864	0.00863
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000158	0.000158
Middle Eastern	0.00864	0.00863
South Asian	0.000392	0.000392
Other	0.000978	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts upon elastin.
• Pathway: Protein digestion and absorption - Homo sapiens (human);Pancreatic secretion - Homo sapiens (human) (Consensus)

Intolerance Scores

• loftool: 0.306
• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.38

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0146

Gene Damage Prediction

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

Gene ontology

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