CASP7

caspase 7, the group of Caspases

Basic information

Region (hg38): 10:113679162-113730907

Links

ENSG00000165806 ∙ NCBI:840 ∙ OMIM:601761 ∙ HGNC:1508 ∙ Uniprot:P55210 ∙ 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 CASP7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CASP7 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				2	1	3
missense			16	2	1	19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	16	5	2

Variants in CASP7

This is a list of pathogenic ClinVar variants found in the CASP7 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-113692031-C-T			Likely benign (Jul 01, 2022)
10-113697518-G-A		not specified	Uncertain significance (Jan 10, 2023)
10-113697537-A-T		not specified	Uncertain significance (May 20, 2024)
10-113697576-G-A		not specified	Uncertain significance (Jul 25, 2023)
10-113697594-C-A		not specified	Uncertain significance (Jan 18, 2023)
10-113697596-C-G		not specified	Uncertain significance (Aug 13, 2021)
10-113697602-A-G		not specified	Uncertain significance (Jun 03, 2024)
10-113709362-GAGA-G			Likely benign (Sep 01, 2023)
10-113721106-T-C		not specified	Uncertain significance (May 07, 2024)
10-113721659-G-A		not specified	Uncertain significance (Jan 06, 2023)
10-113721659-G-T		not specified	Uncertain significance (Mar 12, 2024)
10-113721692-C-T		not specified	Uncertain significance (May 24, 2023)
10-113721766-T-G		not specified	Uncertain significance (Jun 17, 2024)
10-113725486-G-A			Benign (Jul 26, 2018)
10-113725497-G-C		not specified	Uncertain significance (Jun 04, 2024)
10-113725526-T-C			Likely benign (Dec 01, 2022)
10-113725536-A-G		not specified	Uncertain significance (Jul 14, 2021)
10-113726320-G-A		not specified	Uncertain significance (Jan 31, 2023)
10-113726348-C-T		not specified	Uncertain significance (Nov 10, 2022)
10-113729369-C-T		not specified	Likely benign (Aug 08, 2023)
10-113729393-C-G			Benign (Feb 23, 2021)
10-113729444-C-G		not specified	Uncertain significance (Mar 04, 2024)
10-113729487-C-G		not specified	Uncertain significance (Aug 13, 2021)
10-113729492-C-G		not specified	Uncertain significance (Dec 07, 2022)
10-113729493-C-T		not specified	Uncertain significance (Mar 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CASP7	protein_coding	protein_coding	ENST00000369321	7	51721

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000536	0.972	125705	0	43	125748	0.000171

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.703	165	192	0.857	0.0000104	2245
Missense in Polyphen		39	55.177	0.70682		665
Synonymous	-0.966	85	74.4	1.14	0.00000463	606
Loss of Function	1.98	10	19.4	0.515	0.00000130	191

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000570	0.000569
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000158	0.000158
Middle Eastern	0.000163	0.000163
South Asian	0.000233	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the activation cascade of caspases responsible for apoptosis execution. Cleaves and activates sterol regulatory element binding proteins (SREBPs). Proteolytically cleaves poly(ADP-ribose) polymerase (PARP) at a '216-Asp-|-Gly- 217' bond. Overexpression promotes programmed cell death.
• Pathway: Pertussis - Homo sapiens (human);Legionellosis - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);Apoptosis - multiple species - Homo sapiens (human);Alzheimer,s disease - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Apoptosis - Homo sapiens (human);Gamma-glutamyl-transpeptidase deficiency;5-oxoprolinase deficiency;Gamma-Glutamyltransferase Deficiency;Glutathione Metabolism;Glutathione Synthetase Deficiency;5-Oxoprolinuria;Nucleotide-binding Oligomerization Domain (NOD) pathway;Apoptosis Modulation and Signaling;TNF related weak inducer of apoptosis (TWEAK) Signaling Pathway;Alzheimers Disease;TNF alpha Signaling Pathway;Allograft Rejection;Parkinsons Disease Pathway;Oncostatin M Signaling Pathway;Nanomaterial induced apoptosis;Apoptosis;Apoptosis-related network due to altered Notch3 in ovarian cancer;Fas Ligand (FasL) pathway and Stress induction of Heat Shock Proteins (HSP) regulation;Rac1-Pak1-p38-MMP-2 pathway;Apoptotic Signaling Pathway;Hepatitis C and Hepatocellular Carcinoma;Apoptosis Modulation by HSP70;ERK Pathway in Huntington,s Disease;apoptotic signaling in response to dna damage;trefoil factors initiate mucosal healing;caspase cascade in apoptosis;induction of apoptosis through dr3 and dr4/5 death receptors;hiv-1 nef: negative effector of fas and tnf;b cell survival pathway;west nile virus;apoptotic dna-fragmentation and tissue homeostasis;regulation of cell cycle progression by plk3;internal ribosome entry pathway;DroToll-like;SMAC-mediated dissociation of IAP:caspase complexes ;SMAC-mediated apoptotic response;Apoptotic factor-mediated response;Intrinsic Pathway for Apoptosis;Caspase-mediated cleavage of cytoskeletal proteins;Apoptotic cleavage of cellular proteins;Apoptotic execution phase;Apoptosis;Programmed Cell Death;Activation of caspases through apoptosome-mediated cleavage;BCR;fas signaling pathway (cd95);AndrogenReceptor;SMAC binds to IAPs ;a6b1 and a6b4 Integrin signaling;TNFalpha;Cytochrome c-mediated apoptotic response;Caspase Cascade in Apoptosis;HIV-1 Nef: Negative effector of Fas and TNF-alpha;E2F transcription factor network (Consensus)

Recessive Scores

• pRec: 0.403

Intolerance Scores

• loftool: 0.897
• rvis_EVS: 0.62
• rvis_percentile_EVS: 83.36

Haploinsufficiency Scores

• pHI: 0.413
• hipred: N
• hipred_score: 0.198
• ghis: 0.467

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.920

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Casp7
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); endocrine/exocrine gland phenotype; cellular phenotype

Gene ontology

• Biological process: proteolysis;apoptotic process;cellular response to staurosporine;execution phase of apoptosis
• Cellular component: nucleus;nucleoplasm;cytoplasm;cytosol
• Molecular function: cysteine-type endopeptidase activity;protein binding;peptidase activity;cysteine-type peptidase activity;cysteine-type endopeptidase activity involved in apoptotic process;cysteine-type endopeptidase activity involved in execution phase of apoptosis