RETREG3

Reticulophagy regulator family member 3 Q86VR2 RETR3_HUMAN
Protein Coding Chr 17 17q21.2 Swiss-Prot reviewed Entrez 162427
Mutations
370
CL 57 · Tissue 276
Samples
192
CL 40 · Tissue 145
Peptides
162
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
Mutations37057276
Samples19240145
Peptides16228118

Function

RETREG3 · Reticulophagy regulator family member 3

Involved in positive regulation of neuron projection development. Part of protein-containing complex. [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
ENST00000309428 Q86VR2 209 161
ENST00000585894 K7EQI9* 161 134

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17q21.2
Entrez ID
Aliases
FAM134C

Recurrent Mutations

All 161 amino-acid changes on canonical ENST00000309428 · 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 RETREG3 · 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 RETREG3 – 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
4/40 10%
0/0 0%
Hodgkins Lymphoma
1/16 6%
1/122 1%
Endometrial Carcinoma
3/42 7%
6/612 1%
Burkitts Lymphoma
2/32 6%
1/196 1%
Melanoma
3/210 1%
14/1899 1%
Colorectal Carcinoma
10/143 7%
16/3239 0%
Cervical Carcinoma
1/35 3%
2/422 0%
Ewings Sarcoma
0/63 0%
2/262 1%
Thyroid Gland Carcinoma
0/45 0%
10/1592 1%
Gastric Carcinoma
0/74 0%
11/1809 1%
Squamous Cell Lung Carcinoma
1/57 2%
4/810 0%
Esophageal Carcinoma
0/23 0%
4/769 1%
Esophageal Squamous Cell Carcinoma
1/51 2%
12/2550 0%
Other Solid Cancers
1/94 1%
7/1515 0%
Bladder Carcinoma
0/58 0%
5/956 1%
Head and Neck Carcinoma
2/85 2%
6/1574 0%
Non-Cancerous
0/104 0%
4/830 0%
Meningioma
1/3 33%
0/252 0%
Prostate Carcinoma
2/13 15%
6/2105 0%
Ovarian Carcinoma
0/109 0%
4/998 0%
Non-Small Cell Lung Carcinoma
0/304 0%
6/1390 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Hepatocellular Carcinoma
0/46 0%
6/2210 0%
Neuroendocrine Tumour
1/154 1%
1/577 0%
Pancreatic Carcinoma
0/89 0%
4/1611 0%
Glioma
0/52 0%
5/2127 0%
Kidney Carcinoma
0/85 0%
4/1862 0%
Breast Carcinoma
1/144 1%
4/3264 0%
Neuroblastoma
2/87 2%
0/1331 0%

Mutation Distribution

Where RETREG3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in RETREG3 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.

Mutations

All 370 mutations in RETREG3

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