FAM71F1

Golgi-associated RAB2 interactor protein 1B Q96KD3 GAR1B_HUMAN
Swiss-Prot reviewed
Mutations
389
CL 53 · Tissue 326
Samples
231
CL 30 · Tissue 197
Peptides
189
unique mutant peptides
Transcripts
3
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
Mutations38953326
Samples23130197
Peptides18933158

Function

FAM71F1 · Golgi-associated RAB2 interactor protein 1B

RAB2B effector protein required for accurate acrosome formation and normal male fertility. In complex with RAB2A/RAB2B, seems to suppress excessive vesicle trafficking during acrosome formation

Isoforms & Proteins

3 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
ENST00000315184 Q96KD3 226 147
ENST00000485070 Q96KD3-3 158 104
ENST00000621392 Q96KD3-2 5 4

Gene Properties

Recurrent Mutations

All 147 amino-acid changes on canonical ENST00000315184 · 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 FAM71F1 · 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 FAM71F1 – 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
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Rhabdomyosarcoma
0/33 0%
5/171 3%
Other Solid Cancers
1/94 1%
31/1515 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Melanoma
2/210 1%
36/1899 2%
Endometrial Carcinoma
1/42 2%
7/612 1%
Non-Small Cell Lung Carcinoma
6/304 2%
11/1390 1%
Gastric Carcinoma
0/74 0%
15/1809 1%
Bladder Carcinoma
0/58 0%
8/956 1%
Ovarian Carcinoma
1/109 1%
7/998 1%
Hodgkins Lymphoma
1/16 6%
0/122 0%
Colorectal Carcinoma
5/143 4%
19/3239 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Glioma
0/52 0%
10/2127 0%
Mesothelioma
1/62 2%
0/165 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Head and Neck Carcinoma
0/85 0%
6/1574 0%
Squamous Cell Lung Carcinoma
2/57 4%
1/810 0%
Non-Cancerous
0/104 0%
3/830 0%
Ewings Sarcoma
1/63 2%
0/262 0%
Hepatocellular Carcinoma
1/46 2%
6/2210 0%
Other Sarcomas
1/69 1%
1/699 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Neuroblastoma
1/87 1%
2/1331 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
5/2550 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
5/2534 0%
Neuroendocrine Tumour
1/154 1%
0/577 0%
Esophageal Carcinoma
0/23 0%
1/769 0%

Mutation Distribution

Where FAM71F1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FAM71F1 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 389 mutations in FAM71F1

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