FAM3A

FAM3 metabolism regulating signaling molecule A P98173 FAM3A_HUMAN
Protein Coding Chr X Xq28 Swiss-Prot reviewed Entrez 60343
Mutations
525
CL 50 · Tissue 459
Samples
104
CL 18 · Tissue 83
Peptides
97
unique mutant peptides
Transcripts
7
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
Mutations52550459
Samples1041883
Peptides971383

Function

FAM3A · FAM3 metabolism regulating signaling molecule A

This gene encodes a cytokine-like protein. The expression of this gene may be regulated by peroxisome proliferator-activated receptor gamma, and the encoded protein may be involved in the regulation of glucose and lipid metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].

Isoforms & Proteins

7 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
ENST00000322269 D3DWX8* 88 62
ENST00000447601 P98173 86 69
ENST00000359889 P98173 76 65
ENST00000369641 Q5HY75* 75 64
ENST00000369643 P98173 74 63
ENST00000393572 P98173-3 63 53
ENST00000419205 P98173-2 63 52

Gene Properties

Type
Protein Coding
Chromosome
X
Cytoband
Xq28
Entrez ID
Aliases
2.19DLDDXS560SXAP-7

Recurrent Mutations

All 69 amino-acid changes on canonical ENST00000447601 · 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 FAM3A · 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 FAM3A – 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%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Endometrial Carcinoma
4/42 10%
6/612 1%
Osteosarcoma
2/45 4%
0/166 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
12/2534 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Melanoma
0/210 0%
9/1899 0%
Colorectal Carcinoma
2/143 1%
12/3239 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Bladder Carcinoma
0/58 0%
4/956 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Head and Neck Carcinoma
0/85 0%
5/1574 0%
Gastric Carcinoma
0/74 0%
5/1809 0%
Other Sarcomas
1/69 1%
1/699 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Non-Cancerous
1/104 1%
1/830 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
3/2550 0%
Other Solid Cancers
0/94 0%
3/1515 0%
Hepatocellular Carcinoma
0/46 0%
4/2210 0%
Neuroendocrine Tumour
0/154 0%
1/577 0%
Non-Small Cell Lung Carcinoma
0/304 0%
2/1390 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Ovarian Carcinoma
0/109 0%
1/998 0%
Breast Carcinoma
0/144 0%
3/3264 0%
Other Blood Cancers
1/61 2%
1/2725 0%
Glioma
0/52 0%
1/2127 0%
Kidney Carcinoma
0/85 0%
1/1862 0%
B-Lymphoblastic Leukemia
1/55 2%
0/2640 0%

Mutation Distribution

Where FAM3A is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FAM3A 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 525 mutations in FAM3A

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