Gene Expression Nebulas
A data portal of transcriptomic profiles analyzed by a unified pipeline across multiple species

Gene Expression Nebulas

A data portal of transcriptome profiles across multiple species
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Homo sapiens: ENSG00000112378

Homo sapiens: ENSG00000112378

Gene Summary Genome Browser Expression Level Differential Expression
Basic Information Transcripts Gene Ontology Disease Ontology
Accession ID: ENSG00000112378
Source: Ensembl
Gene Symbol: PERP
Related IDs:
Entrez ID: 64065
HGNC ID: HGNC:1607
Refseq ID: NM_022121; NP_071404; XM_024446520; XP_024302288;
Location: 6:138088505-138107419(-)
Description: PERP, TP53 apoptosis effector
Gene Biotype: protein_coding
Band: q24.2
GC Content: 43.55
HK/TS: NA
Phenotype: Mutilating palmoplantar keratoderma with periorificial keratotic plaques
GeneCard:
Accession Transcript Symbol Chr Start End Strand Transcript Biotype
GO Term ID GO Term Name GO Domain GO Term Definition
GO:0016021 integral component of membrane cellular_component The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
GO:0016020 membrane cellular_component A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
GO:0007155 cell adhesion biological_process The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
GO:0005886 plasma membrane cellular_component The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
GO:0006915 apoptotic process biological_process A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died.
GO:0030054 cell junction cellular_component A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
GO:0042981 regulation of apoptotic process biological_process Any process that modulates the occurrence or rate of cell death by apoptotic process.
GO:0070268 cornification biological_process A type of programmed cell death that occurs in the epidermis, morphologically and biochemically distinct from apoptosis. It leads to the formation of corneocytes, i.e. dead keratinocytes containing an amalgam of specific proteins (e.g., keratin, loricrin, SPR and involucrin) and lipids (e.g., fatty acids and ceramides), which are necessary for the function of the cornified skin layer (mechanical resistance, elasticity, water repellence and structural stability).
GO:0030057 desmosome cellular_component A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism.
GO:0045862 positive regulation of proteolysis biological_process Any process that activates or increases the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein.
GO:0097202 activation of cysteine-type endopeptidase activity biological_process Any process that initiates the activity of the inactive enzyme cysteine-type endopeptidase.
GO:0002934 desmosome organization biological_process A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a desmosome. A desmosome is a patch-like intercellular junction found in vertebrate tissues, consisting of parallel zones of two cell membranes, separated by an space of 25-35 nm, and having dense fibrillar plaques in the subjacent cytoplasm.
GO:0007219 Notch signaling pathway biological_process A series of molecular signals initiated by the binding of an extracellular ligand to the receptor Notch on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription.
GO:0034113 heterotypic cell-cell adhesion biological_process The attachment of a cell to a cell of a different type via adhesion molecules.
GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediator biological_process A series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway is induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, and ends when the execution phase of apoptosis is triggered.
GO:0097186 amelogenesis biological_process The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage.
GO:0005739 mitochondrion cellular_component A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
GO:0005794 Golgi apparatus cellular_component A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
GO:0005887 integral component of plasma membrane cellular_component The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
DOID Parent DOID Disease Name Synonyms Disease Definition

Expression Level in GEN

Expression Level in GTEx

Average TPM Median TPM Maximum TPM Minimum TPM CV τ-Value Tissue Breadth GTEx REDIportal
145.35 27.72 2033.00 1.04 2.86 0.95 53

Coverage level, editing level, editing site visualization with JBrowse

Dataset ID Up / Down log FC P-value Adj-value AveExpr Comparison Disease Tissue Cell Type Cell Line GEN Sample Name