Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
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.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 10,278 | 1,430 | 8,656 |
| Samples | 2,338 | 468 | 1,832 |
| Peptides | 2,489 | 415 | 2,092 |
Function
MACF1 · Microtubule actin crosslinking factor 1
This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013].
Isoforms & Proteins
7 transcripts · UniProt mapping is sequence-verified (AA-safe)
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000564288 | H3BPE1* | 2,966 | 2,205 |
| ENST00000567887 | H3BQK9* | 2,745 | 2,157 |
| ENST00000361689 | Q9UPN3-2 | 2,304 | 1,766 |
| ENST00000372915 | A0A7P0MQR8* | 2,111 | 1,665 |
| ENST00000484793 | B4DQX9* | 75 | 46 |
| ENST00000602421 | B4DQX9* | 74 | 45 |
| ENST00000530275 | A0A0A6YYJ5* | 3 | 3 |
Gene Properties
Recurrent Mutations
All 1793 amino-acid changes on canonical ENST00000361689 · needle height = samples · drag the mini-map to zoom
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 MACF1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in MACF1 – 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 type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 17/40 42% | 0/0 0% |
| Chronic Myelogenous Leukemia | 7/25 28% | 0/0 0% |
| Endometrial Carcinoma | 24/42 57% | 78/612 13% |
| Acute Myeloid Leukemia | 12/90 13% | 0/0 0% |
| Melanoma | 20/210 10% | 216/1899 11% |
| Bladder Carcinoma | 5/58 9% | 99/956 10% |
| Non-Small Cell Lung Carcinoma | 71/304 23% | 93/1390 7% |
| Colorectal Carcinoma | 37/143 26% | 240/3239 7% |
| Squamous Cell Lung Carcinoma | 9/57 16% | 54/810 7% |
| Glioblastoma | 7/98 7% | 0/0 0% |
| Other Solid Cancers | 9/94 10% | 103/1515 7% |
| Gastric Carcinoma | 12/74 16% | 114/1809 6% |
| Cervical Carcinoma | 9/35 26% | 21/422 5% |
| Hodgkins Lymphoma | 4/16 25% | 5/122 4% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Ovarian Carcinoma | 18/109 17% | 42/998 4% |
| Esophageal Squamous Cell Carcinoma | 13/51 25% | 126/2550 5% |
| Osteosarcoma | 8/45 18% | 3/166 2% |
| Chordoma | 1/7 14% | 0/13 0% |
| Neuroendocrine Tumour | 28/154 18% | 8/577 1% |
| Small Cell Lung Carcinoma | 4/9 44% | 31/752 4% |
| Hepatocellular Carcinoma | 6/46 13% | 90/2210 4% |
| Head and Neck Carcinoma | 7/85 8% | 63/1574 4% |
| Biliary Tract Carcinoma | 4/54 7% | 38/950 4% |
| Other Sarcomas | 8/69 12% | 24/699 3% |
| Ewings Sarcoma | 6/63 10% | 7/262 3% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Esophageal Carcinoma | 3/23 13% | 27/769 4% |
| Mesothelioma | 5/62 8% | 2/165 1% |
| Breast Carcinoma | 20/144 14% | 84/3264 3% |
Mutation Distribution
Where MACF1 is mutated · all tissues, split by cell line vs tissue
How many mutations in MACF1 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
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 10,278 mutations in MACF1
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.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|