CTRL

chymotrypsin like

Basic information

Region (hg38): 16:67927640-67932365

Links

ENSG00000141086 ∙ NCBI:1506 ∙ OMIM:118888 ∙ HGNC:2524 ∙ Uniprot:P40313 ∙ 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 CTRL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CTRL 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	2
missense			19	2	3	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	3	4

Variants in CTRL

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

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

Position	Type	Phenotype	Significance	ClinVar
16-67930004-C-T		not specified	Uncertain significance (Nov 08, 2024)
16-67930005-G-A		not specified	Uncertain significance (Jul 15, 2024)
16-67930032-A-G		not specified	Uncertain significance (Apr 07, 2022)
16-67930041-C-T		not specified	Uncertain significance (Aug 19, 2024)
16-67930071-A-C		not specified	Uncertain significance (Jul 21, 2024)
16-67930092-C-T		not specified	Uncertain significance (Dec 09, 2023)
16-67930216-C-T		not specified	Uncertain significance (Apr 06, 2023)
16-67930255-C-T		not specified	Likely benign (Jun 07, 2023)
16-67930256-G-A		not specified	Uncertain significance (Feb 26, 2024)
16-67930422-C-T		not specified	Uncertain significance (Jan 25, 2023)
16-67930432-C-T		not specified	Uncertain significance (Dec 20, 2023)
16-67930446-G-A		not specified	Uncertain significance (Jul 02, 2024)
16-67930456-C-G			Benign (Jun 22, 2018)
16-67930530-T-G		not specified	Uncertain significance (Oct 09, 2024)
16-67930543-C-T		not specified	Uncertain significance (May 23, 2023)
16-67930572-C-T		not specified	Uncertain significance (Jan 03, 2024)
16-67930734-C-G		not specified	Uncertain significance (Feb 05, 2024)
16-67930764-A-G		not specified	Uncertain significance (Aug 09, 2021)
16-67930779-C-T		not specified	Uncertain significance (Sep 16, 2021)
16-67930800-G-A		not specified	Uncertain significance (Nov 27, 2024)
16-67930933-G-A			Benign (Aug 01, 2018)
16-67930939-C-T		Long QT syndrome	Likely benign (-)
16-67930946-C-A			Benign (Jul 31, 2018)
16-67930983-T-C		not specified	Uncertain significance (May 26, 2022)
16-67931110-C-G			Likely benign (Jul 18, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CTRL	protein_coding	protein_coding	ENST00000574481	7	4775

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.10e-9	0.0964	125708	0	37	125745	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0908	165	162	1.02	0.00000992	1677
Missense in Polyphen		61	60.385	1.0102		690
Synonymous	-0.693	77	69.6	1.11	0.00000493	558
Loss of Function	0.0916	14	14.4	0.974	7.11e-7	138

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000565	0.000564
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000109	0.000109
Finnish	0.0000939	0.0000924
European (Non-Finnish)	0.0000968	0.0000967
Middle Eastern	0.000109	0.000109
South Asian	0.000196	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Protein digestion and absorption - Homo sapiens (human);Pancreatic secretion - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0990

Intolerance Scores

• loftool: 0.245
• rvis_EVS: 0.6
• rvis_percentile_EVS: 82.66

Haploinsufficiency Scores

• pHI: 0.129
• hipred: N
• hipred_score: 0.216

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0392

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ctrl

Gene ontology

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