Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

5047

Name

PAEP

Synonymous

progestagen-associated endometrial protein;PAEP;progestagen-associated endometrial protein

Definition

PEG|PP14 protein (placental protein 14)|alpha uterine protein|glycodelin|glycodelin-A|glycodelin-F|glycodelin-S|placental protein 14|pregnancy-associated endometrial alpha-2 globulin|pregnancy-associated endometrial alpha-2-globulin|progestagen-associated

Position

9q34

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.10.

The copy number variations for various cancers

Top

There is no record for PAEP

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.107C>T; p.T36I; 9:135562304-135562304

 skinmalignant_melanomaSubstitution - Missense

c.51G>T; p.P17P; 9:135561852-135561852

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.267C>T; p.V89V; 9:135562850-135562850

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.267C>T; p.V89V; 9:135562850-135562850

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.285G>A; p.E95E; 9:135562868-135562868

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.273A>G; p.G91G; 9:135562856-135562856

 breastcarcinomaSubstitution - coding silent

c.376C>A; p.Q126K; 9:135564309-135564309

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.376C>A; p.Q126K; 9:135564309-135564309

 breastcarcinomaSubstitution - Missense

c.222C>A; p.I74I; 9:135562419-135562419

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - coding silent

c.442G>A; p.D148N; 9:135565430-135565430

 skinmalignant_melanomaSubstitution - Missense

c.129G>A; p.A43A; 9:135562326-135562326

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.314C>T; p.T105M; 9:135564247-135564247

 breastcarcinomaSubstitution - Missense

c.321G>A; p.A107A; 9:135564254-135564254

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.72C>A; p.T24T; 9:135561873-135561873

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.415T>C; p.Y139H; 9:135564348-135564348

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.256G>C; p.E86Q; 9:135562839-135562839

 breastcarcinomaSubstitution - Missense

c.350A>G; p.Y117C; 9:135564283-135564283

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.480C>T; p.P160P; 9:135565468-135565468

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.519G>A; p.Q173Q; 9:135565507-135565507

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.417C>G; p.Y139*; 9:135564350-135564350

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Nonsense

c.267_268CC>AA; p.V89>?; 9:135562850-135562851

 lungcarcinoma; small_cell_carcinomaComplex

c.207G>A; p.E69E; 9:135562404-135562404

 skinmalignant_melanomaSubstitution - coding silent

c.114C>T; p.H38H; 9:135562311-135562311

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.246C>A; p.N82K; 9:135562829-135562829

 prostatecarcinomaSubstitution - Missense

c.490C>A; p.H164N; 9:135565478-135565478

 skinmalignant_melanomaSubstitution - Missense

c.523G>A; p.E175K; 9:135565511-135565511

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.287A>G; p.N96S; 9:135562870-135562870

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.104G>A; p.G35E; 9:135562301-135562301

 NSmalignant_melanomaSubstitution - Missense

c.478C>T; p.P160S; 9:135565466-135565466

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.536G>A; p.R179H; 9:135565794-135565794

 pancreascarcinomaSubstitution - Missense

c.536G>A; p.R179H; 9:135565794-135565794

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

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