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

Basic Information

Gene ID

7262

Name

PHLDA2

Synonymous

pleckstrin homology-like domain, family A, member 2;PHLDA2;pleckstrin homology-like domain, family A, member 2

Definition

beckwith-Wiedemann syndrome chromosomal region 1 candidate gene C protein|imprinted in placenta and liver protein|p17-BWR1C|p17-Beckwith-Wiedemann region 1 C|p17-Beckwith-Wiedemann region 1C|pleckstrin homology-like domain family A member 2|tumor suppress

Position

11p15.4

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

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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

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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

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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

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The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.17A>G; p.E6G; 11:2929348-2929348

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.28G>T; p.E10*; 11:2929337-2929337

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.28G>T; p.E10*; 11:2929337-2929337

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.285G>C; p.A95A; 11:2929080-2929080

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.13G>A; p.D5N; 11:2929352-2929352

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.12C>T; p.P4P; 11:2929353-2929353

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.12C>T; p.P4P; 11:2929353-2929353

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.49A>G; p.S17G; 11:2929316-2929316

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.228C>A; p.D76E; 11:2929137-2929137

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.137G>C; p.R46P; 11:2929228-2929228

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.137G>C; p.R46P; 11:2929228-2929228

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.75G>A; p.K25K; 11:2929290-2929290

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.270G>T; p.W90C; 11:2929095-2929095

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.104G>A; p.R35H; 11:2929261-2929261

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.104G>A; p.R35H; 11:2929261-2929261

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.40G>A; p.E14K; 11:2929325-2929325

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.40G>A; p.E14K; 11:2929325-2929325

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.259G>A; p.E87K; 11:2929106-2929106

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.191C>T; p.T64M; 11:2929174-2929174

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.227A>T; p.D76V; 11:2929138-2929138

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.250T>G; p.C84G; 11:2929115-2929115

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.82C>A; p.R28S; 11:2929283-2929283

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.37T>C; p.L13L; 11:2929328-2929328

 breastcarcinomaSubstitution - coding silent

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