PHKG1

Phosphorylase kinase catalytic subunit gamma 1 Q16816 PHKG1_HUMAN
Protein Coding Chr 7 7p11.2 Swiss-Prot reviewed Entrez 5260
Mutations
446
CL 90 · Tissue 352
Samples
230
CL 56 · Tissue 171
Peptides
174
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
Mutations44690352
Samples23056171
Peptides17436143

Function

PHKG1 · Phosphorylase kinase catalytic subunit gamma 1

This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012].

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
ENST00000297373 Q16816 236 164
ENST00000452681 Q16816-2 210 153

Gene Properties

Type
Protein Coding
Chromosome
7
Cytoband
7p11.2
Entrez ID
Aliases
PHKG

Recurrent Mutations

All 164 amino-acid changes on canonical ENST00000297373 · 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 PHKG1 · 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 PHKG1 – 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
6/40 15%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Endometrial Carcinoma
6/42 14%
13/612 2%
Chondrosarcoma
2/14 14%
0/75 0%
Melanoma
2/210 1%
29/1899 2%
Colorectal Carcinoma
9/143 6%
29/3239 1%
Squamous Cell Lung Carcinoma
0/57 0%
9/810 1%
Gastric Carcinoma
1/74 1%
18/1809 1%
Non-Small Cell Lung Carcinoma
5/304 2%
9/1390 1%
Ewings Sarcoma
0/63 0%
2/262 1%
Neuroendocrine Tumour
3/154 2%
1/577 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Thyroid Gland Carcinoma
0/45 0%
7/1592 0%
Head and Neck Carcinoma
4/85 5%
3/1574 0%
Biliary Tract Carcinoma
1/54 2%
3/950 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Other Sarcomas
2/69 3%
1/699 0%
Esophageal Carcinoma
0/23 0%
3/769 0%
Other Solid Cancers
0/94 0%
6/1515 0%
Kidney Carcinoma
0/85 0%
7/1862 0%
B-Cell Non-Hodgkins Lymphoma
2/88 2%
7/2534 0%
Non-Cancerous
0/104 0%
3/830 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Hepatocellular Carcinoma
2/46 4%
4/2210 0%
Medulloblastoma
0/0 0%
1/450 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Bladder Carcinoma
0/58 0%
2/956 0%

Mutation Distribution

Where PHKG1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PHKG1 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 446 mutations in PHKG1

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