SRP72

Signal recognition particle 72 O76094 SRP72_HUMAN
Protein Coding Chr 4 4q12 Swiss-Prot reviewed Entrez 6731
Mutations
604
CL 105 · Tissue 493
Samples
280
CL 69 · Tissue 206
Peptides
229
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
Mutations604105493
Samples28069206
Peptides22941187

Function

SRP72 · Signal recognition particle 72

This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012].

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
ENST00000642900 O76094 291 213
ENST00000510663 O76094-2 225 180
ENST00000504757 R4GNC1* 88 70

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4q12
Entrez ID
Aliases
BMFFBMFS1HEL103

Recurrent Mutations

All 213 amino-acid changes on canonical ENST00000642900 · 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 SRP72 · 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 SRP72 – 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
4/40 10%
0/0 0%
Acute Myeloid Leukemia
7/90 8%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Endometrial Carcinoma
4/42 10%
16/612 3%
Glioblastoma
2/98 2%
0/0 0%
Plasma Cell Myeloma
2/44 5%
3/305 1%
Bladder Carcinoma
0/58 0%
14/956 1%
Gastric Carcinoma
2/74 3%
22/1809 1%
Melanoma
1/210 0%
25/1899 1%
Cervical Carcinoma
2/35 6%
3/422 1%
Non-Small Cell Lung Carcinoma
5/304 2%
13/1390 1%
Squamous Cell Lung Carcinoma
3/57 5%
6/810 1%
Colorectal Carcinoma
9/143 6%
20/3239 1%
Neuroendocrine Tumour
1/154 1%
4/577 1%
Ovarian Carcinoma
3/109 3%
4/998 0%
Kidney Carcinoma
3/85 4%
9/1862 0%
Hepatocellular Carcinoma
0/46 0%
13/2210 1%
Thyroid Gland Carcinoma
0/45 0%
9/1592 1%
Non-Cancerous
1/104 1%
4/830 0%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Pancreatic Carcinoma
6/89 7%
2/1611 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Esophageal Carcinoma
0/23 0%
3/769 0%
Head and Neck Carcinoma
2/85 2%
4/1574 0%
Glioma
0/52 0%
7/2127 0%
Ewings Sarcoma
1/63 2%
0/262 0%
Breast Carcinoma
4/144 3%
6/3264 0%
Other Sarcomas
0/69 0%
2/699 0%
Other Solid Cancers
1/94 1%
3/1515 0%

Mutation Distribution

Where SRP72 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SRP72 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 604 mutations in SRP72

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