ARFGEF2

ARF guanine nucleotide exchange factor 2 Q9Y6D5 BIG2_HUMAN
Protein Coding Chr 20 20q13.13 Swiss-Prot reviewed Entrez 10564
Mutations
910
CL 186 · Tissue 702
Samples
811
CL 164 · Tissue 632
Peptides
652
unique mutant peptides
Transcripts
1
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
Mutations910186702
Samples811164632
Peptides652114548

Function

ARFGEF2 · ARF guanine nucleotide exchange factor 2

ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

1 transcript · 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
ENST00000371917 Q9Y6D5 910 652

Gene Properties

Type
Protein Coding
Chromosome
20
Cytoband
20q13.13
Entrez ID
Aliases
BIG2PVNH2dJ1164I10.1

Recurrent Mutations

All 653 amino-acid changes on canonical ENST00000371917 · 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 ARFGEF2 · 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 ARFGEF2 – 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
8/40 20%
0/0 0%
Oral Cavity Carcinoma
5/54 9%
0/0 0%
Endometrial Carcinoma
16/42 38%
37/612 6%
Melanoma
12/210 6%
90/1899 5%
Hodgkins Lymphoma
4/16 25%
2/122 2%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Gastric Carcinoma
5/74 7%
62/1809 3%
Non-Small Cell Lung Carcinoma
22/304 7%
33/1390 2%
Colorectal Carcinoma
21/143 15%
84/3239 3%
Cervical Carcinoma
0/35 0%
12/422 3%
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Other Solid Cancers
1/94 1%
39/1515 3%
Bladder Carcinoma
3/58 5%
22/956 2%
Neuroendocrine Tumour
9/154 6%
7/577 1%
Squamous Cell Lung Carcinoma
4/57 7%
15/810 2%
Germ Cell Tumour
0/25 0%
3/169 2%
Rhabdomyosarcoma
2/33 6%
1/171 1%
Ovarian Carcinoma
6/109 6%
10/998 1%
Thyroid Gland Carcinoma
3/45 7%
19/1592 1%
Hepatocellular Carcinoma
4/46 9%
26/2210 1%
Burkitts Lymphoma
1/32 3%
2/196 1%
Esophageal Squamous Cell Carcinoma
4/51 8%
28/2550 1%
Other Sarcomas
2/69 3%
7/699 1%
Glioma
1/52 2%
24/2127 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Glioblastoma
1/98 1%
0/0 0%
Head and Neck Carcinoma
0/85 0%
16/1574 1%
Small Cell Lung Carcinoma
0/9 0%
7/752 1%
Esophageal Carcinoma
0/23 0%
7/769 1%

Mutation Distribution

Where ARFGEF2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ARFGEF2 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 910 mutations in ARFGEF2

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