ANKRD33

Ankyrin repeat domain 33 Q7Z3H0 PANKY_HUMAN
Protein Coding Chr 12 12q13.13 Swiss-Prot reviewed Entrez 341405
Mutations
487
CL 41 · Tissue 442
Samples
289
CL 28 · Tissue 258
Peptides
242
unique mutant peptides
Transcripts
3
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
Mutations48741442
Samples28928258
Peptides24225224

Function

ANKRD33 · Ankyrin repeat domain 33

Predicted to be involved in negative regulation of transcription by RNA polymerase II and negative regulation of transcription regulatory region DNA binding activity. Predicted to act upstream of or within skeletal muscle cell differentiation. Predicted to be located in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

3 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
ENST00000301190 Q7Z3H0 281 192
ENST00000340970 Q7Z3H0-1 205 117
ENST00000549751 F8VTQ6* 1 1

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q13.13
Entrez ID
Aliases
C12orf7PANKY

Recurrent Mutations

All 192 amino-acid changes on canonical ENST00000301190 · 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 ANKRD33 · 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 ANKRD33 – 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
2/40 5%
0/0 0%
Endometrial Carcinoma
1/42 2%
15/612 2%
Melanoma
3/210 1%
45/1899 2%
Gastrointestinal Stromal Tumour
0/0 0%
3/133 2%
Non-Small Cell Lung Carcinoma
2/304 1%
22/1390 2%
Other Solid Cancers
1/94 1%
19/1515 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Colorectal Carcinoma
5/143 4%
32/3239 1%
Squamous Cell Lung Carcinoma
0/57 0%
8/810 1%
Gastric Carcinoma
2/74 3%
15/1809 1%
Small Cell Lung Carcinoma
0/9 0%
6/752 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Bladder Carcinoma
0/58 0%
6/956 1%
Glioma
0/52 0%
12/2127 1%
Non-Cancerous
0/104 0%
5/830 1%
Other Sarcomas
0/69 0%
4/699 1%
Head and Neck Carcinoma
3/85 4%
5/1574 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
11/2550 0%
Hepatocellular Carcinoma
0/46 0%
10/2210 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
11/2534 0%
Other Blood Cancers
2/61 3%
6/2725 0%
Neuroendocrine Tumour
0/154 0%
2/577 0%
Kidney Carcinoma
1/85 1%
4/1862 0%
Pancreatic Carcinoma
1/89 1%
3/1611 0%
Thyroid Gland Carcinoma
1/45 2%
3/1592 0%
Medulloblastoma
0/0 0%
1/450 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Breast Carcinoma
0/144 0%
5/3264 0%
Neuroblastoma
2/87 2%
0/1331 0%
Esophageal Carcinoma
0/23 0%
1/769 0%

Mutation Distribution

Where ANKRD33 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ANKRD33 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 51 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 487 mutations in ANKRD33

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