CHCHD7 Coiled-coil-helix-coiled-coil-helix domain containing 7 Q9BUK0 CHCH7_HUMAN
Protein Coding Chr 8 8q12.1 Swiss-Prot reviewed Entrez 79145
Mutations
313
CL 35 · Tissue 272
Samples
59
CL 12 · Tissue 46
Peptides
86
unique mutant peptides
Transcripts
10
isoforms mutated

Stats by Source

Global, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Global = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Global can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

GlobalCell lineTissue
Mutations31335272
Samples591246
Peptides861472

Function

CHCHD7 · Coiled-coil-helix-coiled-coil-helix domain containing 7

Predicted to be located in mitochondrial intermembrane space. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

10 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.

The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.

Counts are mutations and unique mutant peptides on each transcript.

TranscriptUniProtMutationsPeptides
ENST00000355315 Q9BUK0 49 39
ENST00000303759 Q9BUK0-4 45 39
ENST00000396723 J3KPV1* 43 37
ENST00000523975 Q9BUK0-2 43 37
ENST00000517933 E5RFN2* 25 21
ENST00000518801 Q9BUK0-3 22 21
ENST00000521524 Q9BUK0-3 22 21
ENST00000523061 E5RHM5* 22 19
ENST00000519367 Q9BUK0-5 21 20
ENST00000521831 Q9BUK0-5 21 20

Gene Properties

Type
Protein Coding
Chromosome
8
Cytoband
8q12.1
Entrez ID
Aliases
COX23

Recurrent Mutations

Top recurrent amino-acid changes along the protein · needle height = number of mutations

What this lollipop shows
Recurrent Mutations

A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).

X-axis = amino-acid position in the protein.

Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.

The most recurrent changes are labelled; hover any needle for the change, position and counts.

Mutation Distribution

Where CHCHD7 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CHCHD7 were found in each tissue, across the whole database.

Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.

This shows the cancer-context where this gene is recurrently altered.

GTEx Expression

Median TPM across 54 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.

Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.

Scroll or drag the mini-axis below the chart to browse all tissues.

Mutations

All 313 mutations in CHCHD7

About the mutation list
Mutations

Every mutation record for this gene, across all samples and sources.

The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).

Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.

IDSampleTranscriptAA Change CDSTypeSourcePeptide