FAM78A

Family with sequence similarity 78 member A Q5JUQ0 FA78A_HUMAN
Protein Coding Chr 9 9q34.13 Swiss-Prot reviewed Entrez 286336
Mutations
305
CL 60 · Tissue 239
Samples
192
CL 40 · Tissue 148
Peptides
142
unique mutant peptides
Transcripts
2
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
Mutations30560239
Samples19240148
Peptides14236111

Isoforms & Proteins

2 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
ENST00000372271 Q5JUQ0 179 122
ENST00000372269 Q5JUQ2* 126 91

Gene Properties

Type
Protein Coding
Chromosome
9
Cytoband
9q34.13
Entrez ID
Aliases
C9orf59

Recurrent Mutations

All 122 amino-acid changes on canonical ENST00000372271 · 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 FAM78A · 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 FAM78A – 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
5/40 12%
0/0 0%
Endometrial Carcinoma
5/42 12%
13/612 2%
Unknown
0/10 0%
1/29 3%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Gastric Carcinoma
3/74 4%
14/1809 1%
Bladder Carcinoma
1/58 2%
7/956 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Colorectal Carcinoma
5/143 4%
20/3239 1%
Cervical Carcinoma
3/35 9%
0/422 0%
Ewings Sarcoma
1/63 2%
1/262 0%
Melanoma
1/210 0%
11/1899 1%
Other Solid Cancers
0/94 0%
9/1515 1%
Ovarian Carcinoma
0/109 0%
6/998 1%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
13/2550 1%
Head and Neck Carcinoma
0/85 0%
8/1574 1%
Non-Small Cell Lung Carcinoma
1/304 0%
7/1390 0%
Squamous Cell Lung Carcinoma
1/57 2%
2/810 0%
Hepatocellular Carcinoma
0/46 0%
8/2210 0%
Other Sarcomas
1/69 1%
1/699 0%
B-Lymphoblastic Leukemia
7/55 13%
0/2640 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Glioma
0/52 0%
5/2127 0%
Neuroendocrine Tumour
0/154 0%
1/577 0%
Pancreatic Carcinoma
1/89 1%
1/1611 0%
Breast Carcinoma
0/144 0%
4/3264 0%
Non-Cancerous
0/104 0%
1/830 0%

Mutation Distribution

Where FAM78A is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FAM78A 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 305 mutations in FAM78A

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