AGAP1

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 Q9UPQ3 AGAP1_HUMAN
Protein Coding Chr 2 2q37.2 Swiss-Prot reviewed Entrez 116987
Mutations
1,892
CL 218 · Tissue 1,611
Samples
567
CL 97 · Tissue 459
Peptides
483
unique mutant peptides
Transcripts
4
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
Mutations1,8922181,611
Samples56797459
Peptides48373396

Function

AGAP1 · ArfGAP with GTPase domain, ankyrin repeat and PH domain 1

This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011].

Isoforms & Proteins

4 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
ENST00000304032 Q9UPQ3 622 413
ENST00000336665 Q9UPQ3-2 521 364
ENST00000409538 E7EUN2* 510 359
ENST00000409457 Q9UPQ3-3 239 164

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2q37.2
Entrez ID
Aliases
AGAP-1CENTG2GGAP1cnt-g2

Recurrent Mutations

All 413 amino-acid changes on canonical ENST00000304032 · 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 AGAP1 · 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 AGAP1 – 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
6/40 15%
0/0 0%
Endometrial Carcinoma
9/42 21%
30/612 5%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
Hodgkins Lymphoma
5/16 31%
0/122 0%
Gastric Carcinoma
3/74 4%
50/1809 3%
Melanoma
1/210 0%
52/1899 3%
Colorectal Carcinoma
15/143 10%
68/3239 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Other Solid Cancers
2/94 2%
29/1515 2%
Non-Small Cell Lung Carcinoma
17/304 6%
15/1390 1%
Germ Cell Tumour
0/25 0%
3/169 2%
Cervical Carcinoma
2/35 6%
5/422 1%
Bladder Carcinoma
1/58 2%
14/956 1%
Rhabdomyosarcoma
0/33 0%
3/171 2%
Squamous Cell Lung Carcinoma
1/57 2%
10/810 1%
Ewings Sarcoma
2/63 3%
2/262 1%
Plasma Cell Myeloma
2/44 5%
2/305 1%
Other Sarcomas
0/69 0%
8/699 1%
Head and Neck Carcinoma
2/85 2%
15/1574 1%
Glioblastoma
1/98 1%
0/0 0%
Osteosarcoma
1/45 2%
1/166 1%
Hepatocellular Carcinoma
2/46 4%
18/2210 1%
Burkitts Lymphoma
2/32 6%
0/196 0%
Esophageal Carcinoma
0/23 0%
7/769 1%
Esophageal Squamous Cell Carcinoma
2/51 4%
20/2550 1%
Neuroendocrine Tumour
3/154 2%
3/577 1%
Ovarian Carcinoma
0/109 0%
9/998 1%
Biliary Tract Carcinoma
1/54 2%
7/950 1%
Small Cell Lung Carcinoma
1/9 11%
5/752 1%

Mutation Distribution

Where AGAP1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in AGAP1 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 1,892 mutations in AGAP1

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