FAM193A

Family with sequence similarity 193 member A P78312 F193A_HUMAN
Protein Coding Chr 4 4p16.3 Swiss-Prot reviewed Entrez 8603
Mutations
3,278
CL 576 · Tissue 2,671
Samples
600
CL 142 · Tissue 451
Peptides
517
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
Mutations3,2785762,671
Samples600142451
Peptides517106419

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
ENST00000637812 P78312 632 461
ENST00000324666 P78312-1 535 426
ENST00000502458 P78312-5 532 423
ENST00000382839 P78312-2 530 421
ENST00000545951 P78312-6 527 418
ENST00000505311 P78312-6 522 413

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4p16.3
Entrez ID
Aliases
C4orf8RES4-22

Recurrent Mutations

All 461 amino-acid changes on canonical ENST00000637812 · 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 FAM193A · 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 FAM193A – 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
9/40 22%
0/0 0%
Endometrial Carcinoma
6/42 14%
28/612 5%
Glioblastoma
4/98 4%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Melanoma
3/210 1%
66/1899 3%
Burkitts Lymphoma
4/32 12%
3/196 2%
Bladder Carcinoma
3/58 5%
24/956 3%
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Squamous Cell Lung Carcinoma
4/57 7%
17/810 2%
Cervical Carcinoma
0/35 0%
11/422 3%
Non-Small Cell Lung Carcinoma
24/304 8%
16/1390 1%
Hodgkins Lymphoma
2/16 12%
1/122 1%
Colorectal Carcinoma
20/143 14%
53/3239 2%
Other Solid Cancers
4/94 4%
25/1515 2%
Gastric Carcinoma
1/74 1%
32/1809 2%
Pheochromocytoma and Paraganglioma
0/0 0%
1/71 1%
Neuroendocrine Tumour
6/154 4%
4/577 1%
Biliary Tract Carcinoma
1/54 2%
12/950 1%
Esophageal Squamous Cell Carcinoma
2/51 4%
30/2550 1%
Head and Neck Carcinoma
3/85 4%
15/1574 1%
Other Sarcomas
4/69 6%
4/699 1%
Hepatocellular Carcinoma
2/46 4%
20/2210 1%
Non-Cancerous
3/104 3%
6/830 1%
Small Cell Lung Carcinoma
2/9 22%
5/752 1%
Ewings Sarcoma
1/63 2%
2/262 1%
Breast Carcinoma
10/144 7%
20/3264 1%
Esophageal Carcinoma
0/23 0%
6/769 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%

Mutation Distribution

Where FAM193A is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FAM193A 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 3,278 mutations in FAM193A

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