ECSIT

ECSIT signaling integrator Q9BQ95 ECSIT_HUMAN
Protein Coding Chr 19 19p13.2 Swiss-Prot reviewed Entrez 51295
Mutations
755
CL 102 · Tissue 645
Samples
217
CL 38 · Tissue 175
Peptides
233
unique mutant peptides
Transcripts
6
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
Mutations755102645
Samples21738175
Peptides23331209

Function

ECSIT · ECSIT signaling integrator

Predicted to enable DNA-binding transcription factor activity and chromatin binding activity. Involved in regulation of oxidoreductase activity and regulation of protein complex stability. Located in cytosol; mitochondrion; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

6 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
ENST00000270517 Q9BQ95 215 150
ENST00000591104 Q9BQ95-4 167 115
ENST00000252440 Q9BQ95-2 154 109
ENST00000592312 K7EN32* 120 87
ENST00000417981 Q9BQ95-3 72 59
ENST00000588998 K7ESM8* 27 22

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19p13.2
Entrez ID
Aliases
SITPEC

Recurrent Mutations

All 150 amino-acid changes on canonical ENST00000270517 · 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 ECSIT · 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 ECSIT – 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
5/40 12%
0/0 0%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
Endometrial Carcinoma
2/42 5%
9/612 1%
Melanoma
3/210 1%
28/1899 1%
Colorectal Carcinoma
7/143 5%
31/3239 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Cervical Carcinoma
0/35 0%
5/422 1%
Burkitts Lymphoma
0/32 0%
2/196 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Other Solid Cancers
0/94 0%
12/1515 1%
Gastric Carcinoma
2/74 3%
11/1809 1%
Ovarian Carcinoma
3/109 3%
4/998 0%
Biliary Tract Carcinoma
2/54 4%
3/950 0%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Glioma
0/52 0%
10/2127 0%
Neuroendocrine Tumour
0/154 0%
3/577 1%
Meningioma
0/3 0%
1/252 0%
Esophageal Carcinoma
0/23 0%
3/769 0%
Thyroid Gland Carcinoma
0/45 0%
5/1592 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Bladder Carcinoma
0/58 0%
3/956 0%
Non-Small Cell Lung Carcinoma
3/304 1%
2/1390 0%
Esophageal Squamous Cell Carcinoma
3/51 6%
4/2550 0%
Other Sarcomas
0/69 0%
2/699 0%
Kidney Carcinoma
2/85 2%
3/1862 0%
Prostate Carcinoma
2/13 15%
3/2105 0%
Head and Neck Carcinoma
0/85 0%
4/1574 0%
Breast Carcinoma
1/144 1%
7/3264 0%
Medulloblastoma
0/0 0%
1/450 0%
Other Blood Cancers
0/61 0%
5/2725 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in ECSIT 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 755 mutations in ECSIT

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