FAM104B

Protein VCF2 Q5XKR9 VCF2_HUMAN
Swiss-Prot reviewed
Mutations
1,061
CL 293 · Tissue 768
Samples
199
CL 58 · Tissue 141
Peptides
124
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
Mutations1,061293768
Samples19958141
Peptides1243399

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
ENST00000425133 Q5XKR9-3 221 69
ENST00000489298 Q5XKR9-6 214 65
ENST00000477847 Q5XKR9-4 213 64
ENST00000332132 Q5XKR9-2 188 71
ENST00000358460 Q5XKR9 188 71
ENST00000472571 Q5XKR9-5 37 21

Gene Properties

Recurrent Mutations

All 69 amino-acid changes on canonical ENST00000425133 · 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 FAM104B · 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 FAM104B – 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
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Endometrial Carcinoma
3/42 7%
6/612 1%
Colorectal Carcinoma
6/143 4%
40/3239 1%
Squamous Cell Lung Carcinoma
4/57 7%
6/810 1%
Chondrosarcoma
1/14 7%
0/75 0%
Glioblastoma
1/98 1%
0/0 0%
Rhabdomyosarcoma
1/33 3%
1/171 1%
Osteosarcoma
2/45 4%
0/166 0%
Mesothelioma
2/62 3%
0/165 0%
Burkitts Lymphoma
2/32 6%
0/196 0%
Thyroid Gland Carcinoma
0/45 0%
14/1592 1%
Cervical Carcinoma
2/35 6%
1/422 0%
Ewings Sarcoma
2/63 3%
0/262 0%
Bladder Carcinoma
3/58 5%
3/956 0%
Plasma Cell Myeloma
2/44 5%
0/305 0%
Other Solid Cancers
2/94 2%
7/1515 0%
Melanoma
3/210 1%
7/1899 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
11/2550 0%
Non-Small Cell Lung Carcinoma
1/304 0%
6/1390 0%
Neuroendocrine Tumour
3/154 2%
0/577 0%
Head and Neck Carcinoma
2/85 2%
3/1574 0%
Breast Carcinoma
3/144 2%
7/3264 0%
Neuroblastoma
2/87 2%
2/1331 0%
Hepatocellular Carcinoma
0/46 0%
6/2210 0%
Ovarian Carcinoma
1/109 1%
2/998 0%
Other Sarcomas
1/69 1%
1/699 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Pancreatic Carcinoma
2/89 2%
2/1611 0%

Mutation Distribution

Where FAM104B is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FAM104B 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 1,061 mutations in FAM104B

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