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

Basic Information

Gene ID

401

Name

PHOX2A

Synonymous

paired-like homeobox 2a;PHOX2A;paired-like homeobox 2a

Definition

ARIX1 homeodomain protein|aristaless homeobox homolog|aristaless homeobox protein homolog|arix homeodomain protein|paired mesoderm homeobox protein 2A

Position

11q13.2

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 0.00.

The copy number variations for various cancers

Top

There is no record for PHOX2A

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.225C>A; p.Y75*; 11:72241282-72241282

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.372G>T; p.A124A; 11:72241135-72241135

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.733G>A; p.A245T; 11:72239871-72239871

 thyroidcarcinomaSubstitution - Missense

c.633C>A; p.P211P; 11:72239971-72239971

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.737G>A; p.G246E; 11:72239867-72239867

 skinmalignant_melanomaSubstitution - Missense

c.764A>G; p.Q255R; 11:72239840-72239840

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.203C>T; p.A68V; 11:72243802-72243802

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.776C>G; p.S259C; 11:72239828-72239828

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.347A>C; p.D116A; 11:72241160-72241160

 lungcarcinoma; bronchioloalveolar_adenocarcinomaSubstitution - Missense

c.309G>A; p.K103K; 11:72241198-72241198

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.321C>T; p.R107R; 11:72241186-72241186

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.54G>A; p.A18A; 11:72243951-72243951

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.371C>T; p.A124V; 11:72241136-72241136

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.297C>T; p.S99S; 11:72241210-72241210

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.381C>T; p.I127I; 11:72241126-72241126

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.37G>A; p.V13M; 11:72243968-72243968

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.398G>A; p.R133H; 11:72241109-72241109

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.755A>G; p.K252R; 11:72239849-72239849

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.220C>A; p.P74T; 11:72241287-72241287

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.364G>A; p.E122K; 11:72241143-72241143

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.328G>A; p.A110T; 11:72241179-72241179

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.388A>G; p.T130A; 11:72241119-72241119

 thyroidother; neoplasmSubstitution - Missense

c.263G>A; p.R88H; 11:72241244-72241244

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.27C>G; p.Y9*; 11:72243978-72243978

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.825C>T; p.P275P; 11:72239779-72239779

 thyroidother; neoplasmSubstitution - coding silent

c.777C>T; p.S259S; 11:72239827-72239827

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.316G>C; p.E106Q; 11:72241191-72241191

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.356C>T; p.T119M; 11:72241151-72241151

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.391G>A; p.E131K; 11:72241116-72241116

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.799G>A; p.V267I; 11:72239805-72239805

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.126C>T; p.F42F; 11:72243879-72243879

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.66C>T; p.G22G; 11:72243939-72243939

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.299C>T; p.A100V; 11:72241208-72241208

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.358C>T; p.R120C; 11:72241149-72241149

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.298G>A; p.A100T; 11:72241209-72241209

 pancreascarcinomaSubstitution - Missense

c.298G>A; p.A100T; 11:72241209-72241209

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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