SNRPD1

Small nuclear ribonucleoprotein D1 polypeptide P62314 SMD1_HUMAN
Protein Coding Chr 18 18q11.2 Swiss-Prot reviewed Entrez 6632
Mutations
81
CL 15 · Tissue 65
Samples
42
CL 9 · Tissue 32
Peptides
35
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
Mutations811565
Samples42932
Peptides35529

Function

SNRPD1 · Small nuclear ribonucleoprotein D1 polypeptide

This gene encodes a small nuclear ribonucleoprotein that belongs to the SNRNP core protein family. The protein may act as a charged protein scaffold to promote SNRNP assembly or strengthen SNRNP-SNRNP interactions through nonspecific electrostatic contacts with RNA. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014].

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
ENST00000300413 P62314 44 31
ENST00000582475 J3QLI9* 28 21
ENST00000579618 J3QLR7* 9 9

Gene Properties

Type
Protein Coding
Chromosome
18
Cytoband
18q11.2
Entrez ID
Aliases
HsT2456SMD1SNRPDSm-D1

Recurrent Mutations

All 31 amino-acid changes on canonical ENST00000300413 · 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 SNRPD1 · 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 SNRPD1 – 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
Glioblastoma
1/98 1%
0/0 0%
Endometrial Carcinoma
0/42 0%
4/612 1%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Other Solid Cancers
0/94 0%
4/1515 0%
Ovarian Carcinoma
0/109 0%
2/998 0%
Non-Small Cell Lung Carcinoma
0/304 0%
3/1390 0%
Gastric Carcinoma
0/74 0%
3/1809 0%
Colorectal Carcinoma
3/143 2%
2/3239 0%
Neuroendocrine Tumour
0/154 0%
1/577 0%
Melanoma
2/210 1%
1/1899 0%
Squamous Cell Lung Carcinoma
0/57 0%
1/810 0%
Thyroid Gland Carcinoma
0/45 0%
2/1592 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Glioma
0/52 0%
2/2127 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
2/2550 0%
Neuroblastoma
0/87 0%
1/1331 0%
Head and Neck Carcinoma
1/85 1%
0/1574 0%
Breast Carcinoma
2/144 1%
0/3264 0%
Hepatocellular Carcinoma
0/46 0%
1/2210 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
1/2534 0%

Mutation Distribution

Where SNRPD1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SNRPD1 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 81 mutations in SNRPD1

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