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

Basic Information

Gene ID

23612

Name

PHLDA3

Synonymous

pleckstrin homology-like domain, family A, member 3;PHLDA3;pleckstrin homology-like domain, family A, member 3

Definition

TDAG51/Ipl homolog 1|pleckstrin homology-like domain family A member 3|pleckstrin homology-like domain, family A, member 2

Position

1q31

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

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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.170G>A; p.R57H; 1:201468617-201468617

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.170G>A; p.R57H; 1:201468617-201468617

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.347C>T; p.A116V; 1:201468440-201468440

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.252C>T; p.D84D; 1:201468535-201468535

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.245A>G; p.E82G; 1:201468542-201468542

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.258C>A; p.R86R; 1:201468529-201468529

 prostatecarcinomaSubstitution - coding silent

c.244G>A; p.E82K; 1:201468543-201468543

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.244G>A; p.E82K; 1:201468543-201468543

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.343C>T; p.R115W; 1:201468444-201468444

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.202G>T; p.G68W; 1:201468585-201468585

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.124G>A; p.E42K; 1:201468663-201468663

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.240C>T; p.G80G; 1:201468547-201468547

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.83G>A; p.R28Q; 1:201468704-201468704

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.83G>A; p.R28Q; 1:201468704-201468704

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.109G>C; p.G37R; 1:201468678-201468678

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.83G>A; p.R28Q; 1:201468704-201468704

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.84G>A; p.R28R; 1:201468703-201468703

 urinary_tract; bladdercarcinomaSubstitution - coding silent

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