FANK1

Fibronectin type III and ankyrin repeat domains 1 Q8TC84 FANK1_HUMAN
Protein Coding Chr 10 10q26.2 Swiss-Prot reviewed Entrez 92565
Mutations
281
CL 41 · Tissue 235
Samples
185
CL 33 · Tissue 149
Peptides
174
unique mutant peptides
Transcripts
2
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
Mutations28141235
Samples18533149
Peptides17422157

Function

FANK1 · Fibronectin type III and ankyrin repeat domains 1

Involved in regulation of apoptotic process and regulation of transcription, DNA-templated. Located in cytosol and nucleoplasm. Colocalizes with chromatin. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

2 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
ENST00000368693 Q8TC84 215 148
ENST00000368689 A6NKD7* 66 46

Gene Properties

Type
Protein Coding
Chromosome
10
Cytoband
10q26.2
Entrez ID
Aliases
HSD13

Recurrent Mutations

All 148 amino-acid changes on canonical ENST00000368693 · 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 FANK1 · 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 FANK1 – 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
Oral Cavity Carcinoma
3/54 6%
0/0 0%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Non-Small Cell Lung Carcinoma
16/304 5%
10/1390 1%
Endometrial Carcinoma
0/42 0%
10/612 2%
Melanoma
1/210 0%
23/1899 1%
Bladder Carcinoma
0/58 0%
8/956 1%
Squamous Cell Lung Carcinoma
1/57 2%
5/810 1%
Gastric Carcinoma
0/74 0%
13/1809 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Hepatocellular Carcinoma
0/46 0%
13/2210 1%
Other Solid Cancers
0/94 0%
9/1515 1%
Colorectal Carcinoma
1/143 1%
18/3239 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Head and Neck Carcinoma
2/85 2%
5/1574 0%
Breast Carcinoma
3/144 2%
9/3264 0%
Glioma
0/52 0%
6/2127 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Prostate Carcinoma
0/13 0%
3/2105 0%
Other Sarcomas
0/69 0%
1/699 0%
Thyroid Gland Carcinoma
0/45 0%
2/1592 0%
B-Lymphoblastic Leukemia
2/55 4%
1/2640 0%
Ovarian Carcinoma
1/109 1%
0/998 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
2/2550 0%
Neuroblastoma
1/87 1%
0/1331 0%
Other Blood Cancers
1/61 2%
1/2725 0%
Pancreatic Carcinoma
0/89 0%
1/1611 0%
Kidney Carcinoma
0/85 0%
1/1862 0%

Mutation Distribution

Where FANK1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FANK1 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 281 mutations in FANK1

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