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

Basic Information

Gene ID

8125

Name

ANP32A

Synonymous

acidic (leucine-rich) nuclear phosphoprotein 32 family, member A;ANP32A;acidic (leucine-rich) nuclear phosphoprotein 32 family, member A

Definition

acidic leucine-rich nuclear phosphoprotein 32 family member A|acidic nuclear phosphoprotein pp32|cerebellar leucine rich acidic nuclear protein|hepatopoietin Cn|inhibitor-1 of protein phosphatase-2A|leucine-rich acidic nuclear protein|mapmodulin|potent he

Position

15q23

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 0.06.

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.682C>T; p.L228F; 15:68780416-68780416

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.463G>T; p.A155S; 15:68784460-68784460

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.328-1G>T; p.?; 15:68784596-68784596

 lungcarcinoma; adenocarcinomaUnknown

c.39C>A; p.N13K; 15:68820713-68820713

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.727G>T; p.D243Y; 15:68780104-68780104

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.194A>C; p.K65T; 15:68787780-68787780

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.311G>A; p.S104N; 15:68787429-68787429

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.646G>A; p.D216N; 15:68780452-68780452

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.436G>A; p.D146N; 15:68784487-68784487

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.206T>G; p.L69R; 15:68787534-68787534

 breastcarcinomaSubstitution - Missense

c.76A>C; p.N26H; 15:68787898-68787898

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.106G>A; p.G36S; 15:68787868-68787868

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.172G>A; p.A58T; 15:68787802-68787802

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.159C>T; p.G53G; 15:68787815-68787815

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.34C>T; p.R12W; 15:68820718-68820718

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.387C>T; p.N129N; 15:68784536-68784536

 bone; femurEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.234G>A; p.G78G; 15:68787506-68787506

 skinmalignant_melanomaSubstitution - coding silent

c.11G>A; p.G4D; 15:68820741-68820741

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.87G>A; p.S29S; 15:68787887-68787887

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.645C>T; p.N215N; 15:68780453-68780453

 pancreascarcinomaSubstitution - coding silent

c.645C>T; p.N215N; 15:68780453-68780453

 pancreascarcinomaSubstitution - coding silent

c.167C>T; p.S56L; 15:68787807-68787807

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.35G>A; p.R12Q; 15:68820717-68820717

 skinmalignant_melanomaSubstitution - Missense

c.433C>T; p.L145F; 15:68784490-68784490

 skinmalignant_melanomaSubstitution - Missense

c.124G>T; p.E42*; 15:68787850-68787850

 skinmalignant_melanomaSubstitution - Nonsense

c.397G>T; p.E133*; 15:68784526-68784526

 breastcarcinomaSubstitution - Nonsense

c.673G>A; p.E225K; 15:68780425-68780425

 thyroidcarcinomaSubstitution - Missense

c.736G>C; p.E246Q; 15:68780095-68780095

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.601G>A; p.E201K; 15:68782979-68782979

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.27A>G; p.L9L; 15:68820725-68820725

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.270C>T; p.L90L; 15:68787470-68787470

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.449G>A; p.R150Q; 15:68784474-68784474

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.160C>G; p.L54V; 15:68787814-68787814

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.473C>T; p.S158L; 15:68784450-68784450

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.473C>T; p.S158L; 15:68784450-68784450

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

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