FAM83A

Family with sequence similarity 83 member A Q86UY5 FA83A_HUMAN
Swiss-Prot reviewed
Mutations
984
CL 149 · Tissue 774
Samples
297
CL 77 · Tissue 217
Peptides
238
unique mutant peptides
Transcripts
5
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
Mutations984149774
Samples29777217
Peptides23850184

Isoforms & Proteins

5 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
ENST00000518448 Q86UY5 266 184
ENST00000276699 Q86UY5-3 236 161
ENST00000536633 Q86UY5-3 236 161
ENST00000522648 Q86UY5-2 198 132
ENST00000690554 Q86UY5 48 34

Gene Properties

Recurrent Mutations

All 184 amino-acid changes on canonical ENST00000518448 · 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 FAM83A · 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 FAM83A – 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
3/40 8%
0/0 0%
Glioblastoma
4/98 4%
0/0 0%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Melanoma
7/210 3%
49/1899 3%
Chondrosarcoma
1/14 7%
1/75 1%
Endometrial Carcinoma
7/42 17%
5/612 1%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Cervical Carcinoma
5/35 14%
1/422 0%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Squamous Cell Lung Carcinoma
3/57 5%
6/810 1%
Gastric Carcinoma
3/74 4%
16/1809 1%
Other Solid Cancers
1/94 1%
14/1515 1%
Mesothelioma
1/62 2%
1/165 1%
Non-Cancerous
3/104 3%
5/830 1%
Colorectal Carcinoma
7/143 5%
20/3239 1%
Ovarian Carcinoma
3/109 3%
5/998 0%
Hepatocellular Carcinoma
1/46 2%
13/2210 1%
Bladder Carcinoma
2/58 3%
4/956 0%
Plasma Cell Myeloma
2/44 5%
0/305 0%
Glioma
1/52 2%
11/2127 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Other Sarcomas
3/69 4%
1/699 0%
Germ Cell Tumour
1/25 4%
0/169 0%
Esophageal Carcinoma
1/23 4%
3/769 0%
Non-Small Cell Lung Carcinoma
1/304 0%
7/1390 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
11/2550 0%
Prostate Carcinoma
3/13 23%
5/2105 0%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%

Mutation Distribution

Where FAM83A is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FAM83A 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 984 mutations in FAM83A

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