CYBC1 Cytochrome b-245 chaperone 1 Q9BQA9 CYBC1_HUMAN
Protein Coding Chr 17 17q25.3 Swiss-Prot reviewed Entrez 79415
Mutations
767
CL 67 · Tissue 636
Samples
86
CL 13 · Tissue 67
Peptides
96
unique mutant peptides
Transcripts
14
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
Mutations76767636
Samples861367
Peptides961180

Function

CYBC1 · Cytochrome b-245 chaperone 1

Involved in innate immune response and respiratory burst after phagocytosis. Located in endoplasmic reticulum. Implicated in chronic granulomatous disease. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

14 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
ENST00000306645 Q9BQA9 73 56
ENST00000583617 J3KSJ5* 70 51
ENST00000437807 Q9BQA9 67 53
ENST00000577732 Q9BQA9 67 53
ENST00000578919 Q9BQA9 67 53
ENST00000585064 Q9BQA9 67 53
ENST00000585080 Q9BQA9 67 53
ENST00000434650 Q9BQA9-2 62 50
ENST00000577436 Q9BQA9-2 62 50
ENST00000578913 J3QRG5* 57 44
ENST00000342572 H0Y2X1* 27 22
ENST00000580560 H0Y2X1* 27 22
ENST00000581196 H0Y2X1* 27 22
ENST00000584503 H0Y2X1* 27 22

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17q25.3
Entrez ID
79415
Aliases
C17orf62CGD5Eros

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 CYBC1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CYBC1 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.

Mutations

All 767 mutations in CYBC1

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