Stats by Source
Global, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
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.
| Global | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 3,610 | 366 | 3,166 |
| Samples | 309 | 54 | 249 |
| Peptides | 263 | 45 | 225 |
Function
EFHC1 · EF-hand domain containing 1
This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010].
Isoforms & Proteins
13 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 |
|---|---|---|---|
| ENST00000371068 | Q5JVL4 | 320 | 224 |
| ENST00000636702 | A0A1B0GTB1* | 295 | 214 |
| ENST00000538167 | Q5JVL4-3 | 294 | 213 |
| ENST00000636489 | Q5JVL4-3 | 294 | 213 |
| ENST00000636954 | Q5JVL4-3 | 294 | 213 |
| ENST00000635996 | A0A1B0GUV2* | 286 | 209 |
| ENST00000637353 | A0A1B0GVB0* | 286 | 208 |
| ENST00000637089 | A0A1B0GTV6* | 284 | 207 |
| ENST00000636107 | A0A1B0GTF7* | 264 | 191 |
| ENST00000637263 | A0A1B0GTH2* | 264 | 191 |
| ENST00000635760 | A0A1B0GTM7* | 259 | 183 |
| ENST00000636379 | A0A1B0GVR3* | 243 | 182 |
| ENST00000635984 | A0A1B0GU13* | 227 | 159 |
Gene Properties
Recurrent Mutations
Top recurrent amino-acid changes along the protein · needle height = number of 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 EFHC1 is mutated · all tissues, split by cell line vs tissue
How many mutations in EFHC1 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 3,610 mutations in EFHC1
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 | Peptide |
|---|