CYB561D1

Cytochrome b561 family member D1 Q8N8Q1 C56D1_HUMAN
Protein Coding Chr 1 1p13.3 Swiss-Prot reviewed Entrez 284613
Mutations
476
CL 35 · Tissue 426
Samples
118
CL 16 · Tissue 97
Peptides
133
unique mutant peptides
Transcripts
9
isoforms mutated

Stats by Source

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

How the counts split by source
Stats by Source

Total = all mutations for this gene across every source.

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

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

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

TotalCell lineTissue
Mutations47635426
Samples1181697
Peptides13316112

Function

CYB561D1 · Cytochrome b561 family member D1

Predicted to enable heme binding activity and oxidoreductase activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

9 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
ENST00000369868 Q8N8Q1-3 97 57
ENST00000420578 Q8N8Q1 80 62
ENST00000528785 E9PQU0* 70 56
ENST00000310611 Q8N8Q1-2 64 32
ENST00000430195 Q8N8Q1-4 57 26
ENST00000393709 Q8N8Q1-5 55 44
ENST00000533024 E9PIK3* 21 18
ENST00000496961 E9PIJ2* 20 17
ENST00000527072 E9PM70* 12 11

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1p13.3
Entrez ID

Recurrent Mutations

All 57 amino-acid changes on canonical ENST00000369868 · needle height = samples · drag the mini-map to zoom

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 frequency across cancer types

% of samples with a missense/complex mutation in CYB561D1 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CYB561D1 – counted as distinct samples (a sample counts once no matter how many mutations it has).

Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.

Cancer typeCell linesTissue samples
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Endometrial Carcinoma
1/42 2%
7/612 1%
Melanoma
2/210 1%
14/1899 1%
Colorectal Carcinoma
3/143 2%
17/3239 1%
Esophageal Carcinoma
0/23 0%
4/769 1%
Biliary Tract Carcinoma
0/54 0%
5/950 1%
Bladder Carcinoma
0/58 0%
5/956 1%
Cervical Carcinoma
1/35 3%
1/422 0%
Gastric Carcinoma
0/74 0%
7/1809 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
8/2534 0%
Other Solid Cancers
0/94 0%
5/1515 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Other Sarcomas
0/69 0%
2/699 0%
Non-Small Cell Lung Carcinoma
0/304 0%
4/1390 0%
Breast Carcinoma
2/144 1%
6/3264 0%
Glioma
0/52 0%
5/2127 0%
Medulloblastoma
0/0 0%
1/450 0%
Thyroid Gland Carcinoma
0/45 0%
3/1592 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
3/2550 0%
Non-Cancerous
0/104 0%
1/830 0%
Other Blood Cancers
3/61 5%
0/2725 0%
Prostate Carcinoma
0/13 0%
2/2105 0%
Ovarian Carcinoma
0/109 0%
1/998 0%
Neuroblastoma
1/87 1%
0/1331 0%
Pancreatic Carcinoma
0/89 0%
1/1611 0%
B-Lymphoblastic Leukemia
1/55 2%
0/2640 0%

Mutation Distribution

Where CYB561D1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CYB561D1 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 476 mutations in CYB561D1

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 CDSTypeSourceMutant PeptideWild-type Peptide