FAM217B

Family with sequence similarity 217 member B Q9NTX9 F217B_HUMAN
Protein Coding Chr 20 20q13.33 Swiss-Prot reviewed Entrez 63939
Mutations
416
CL 72 · Tissue 342
Samples
199
CL 43 · Tissue 155
Peptides
168
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
Mutations41672342
Samples19943155
Peptides16832142

Function

FAM217B · Family with sequence similarity 217 member B

Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000360816 Q9NTX9 219 168
ENST00000358293 Q9NTX9 197 159

Gene Properties

Type
Protein Coding
Chromosome
20
Cytoband
20q13.33
Entrez ID
Aliases
C20orf177dJ551D2.5

Recurrent Mutations

All 168 amino-acid changes on canonical ENST00000360816 · 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 FAM217B · 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 FAM217B – 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
1/40 2%
0/0 0%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Endometrial Carcinoma
5/42 12%
6/612 1%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Melanoma
2/210 1%
21/1899 1%
Glioblastoma
1/98 1%
0/0 0%
Colorectal Carcinoma
7/143 5%
23/3239 1%
Burkitts Lymphoma
2/32 6%
0/196 0%
Cervical Carcinoma
0/35 0%
4/422 1%
Plasma Cell Myeloma
2/44 5%
1/305 0%
Non-Small Cell Lung Carcinoma
2/304 1%
12/1390 1%
Squamous Cell Lung Carcinoma
0/57 0%
7/810 1%
Other Solid Cancers
4/94 4%
9/1515 1%
Hepatocellular Carcinoma
3/46 7%
14/2210 1%
Ovarian Carcinoma
2/109 2%
4/998 0%
Glioma
0/52 0%
10/2127 0%
Non-Cancerous
0/104 0%
4/830 0%
Gastric Carcinoma
2/74 3%
5/1809 0%
Prostate Carcinoma
2/13 15%
5/2105 0%
Bladder Carcinoma
1/58 2%
2/956 0%
Head and Neck Carcinoma
0/85 0%
5/1574 0%
Breast Carcinoma
2/144 1%
7/3264 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
4/2550 0%
B-Lymphoblastic Leukemia
2/55 4%
2/2640 0%
Neuroendocrine Tumour
0/154 0%
1/577 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Other Sarcomas
0/69 0%
1/699 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Thyroid Gland Carcinoma
1/45 2%
1/1592 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
3/2534 0%

Mutation Distribution

Where FAM217B is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FAM217B 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 416 mutations in FAM217B

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