ABCG1

ATP binding cassette subfamily G member 1 P45844 ABCG1_HUMAN
Protein Coding Chr 21 21q22.3 Swiss-Prot reviewed Entrez 9619
Mutations
2,095
CL 285 · Tissue 1,761
Samples
399
CL 86 · Tissue 301
Peptides
319
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
Mutations2,0952851,761
Samples39986301
Peptides31965260

Function

ABCG1 · ATP binding cassette subfamily G member 1

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. It is involved in macrophage cholesterol and phospholipids transport, and may regulate cellular lipid homeostasis in other cell types. Six alternative splice variants have been identified. [provided by RefSeq, Jul 2008].

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
ENST00000398449 P45844-4 386 265
ENST00000361802 P45844 347 254
ENST00000398457 P45844-3 346 254
ENST00000343687 P45844-2 343 252
ENST00000347800 P45844-5 339 248
ENST00000398437 E9PGV9* 334 249

Gene Properties

Type
Protein Coding
Chromosome
21
Cytoband
21q22.3
Entrez ID
Aliases
ABC8WHITE1

Recurrent Mutations

All 265 amino-acid changes on canonical ENST00000398449 · 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 ABCG1 · 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 ABCG1 – 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
10/40 25%
0/0 0%
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
Endometrial Carcinoma
9/42 21%
19/612 3%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Melanoma
9/210 4%
48/1899 3%
Glioblastoma
2/98 2%
0/0 0%
Gastric Carcinoma
1/74 1%
30/1809 2%
Non-Small Cell Lung Carcinoma
14/304 5%
14/1390 1%
Colorectal Carcinoma
9/143 6%
45/3239 1%
Other Solid Cancers
1/94 1%
23/1515 2%
Biliary Tract Carcinoma
0/54 0%
13/950 1%
Ewings Sarcoma
4/63 6%
0/262 0%
Chondrosarcoma
0/14 0%
1/75 1%
Cervical Carcinoma
2/35 6%
3/422 1%
Germ Cell Tumour
0/25 0%
2/169 1%
Bladder Carcinoma
0/58 0%
10/956 1%
Neuroendocrine Tumour
4/154 3%
3/577 1%
Small Cell Lung Carcinoma
0/9 0%
7/752 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Other Sarcomas
1/69 1%
4/699 1%
Esophageal Carcinoma
0/23 0%
5/769 1%
Squamous Cell Lung Carcinoma
3/57 5%
2/810 0%
Hepatocellular Carcinoma
1/46 2%
11/2210 0%
Thyroid Gland Carcinoma
0/45 0%
8/1592 0%
Osteosarcoma
0/45 0%
1/166 1%
Kidney Carcinoma
0/85 0%
9/1862 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Medulloblastoma
0/0 0%
2/450 0%
Head and Neck Carcinoma
1/85 1%
6/1574 0%
Ovarian Carcinoma
1/109 1%
3/998 0%

Mutation Distribution

Where ABCG1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ABCG1 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 2,095 mutations in ABCG1

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