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

Basic Information

Gene ID

222236

Name

NAPEPLD

Synonymous

N-acyl phosphatidylethanolamine phospholipase D;NAPEPLD;N-acyl phosphatidylethanolamine phospholipase D

Definition

N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D|NAPE-hydrolyzing phospholipase D

Position

7q22.1

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 0.19.

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.1053T>C; p.N351N; 7:103115063-103115063

 pancreascarcinomaSubstitution - coding silent

c.1053T>C; p.N351N; 7:103115063-103115063

 pancreascarcinomaSubstitution - coding silent

c.890G>T; p.R297I; 7:103119628-103119628

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.227C>A; p.S76Y; 7:103128550-103128550

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.307G>T; p.E103*; 7:103120211-103120211

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.263_266delAAGA; p.K88fs*12; 7:103128511-103128514

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourDeletion - Frameshift

c.243C>T; p.L81L; 7:103128534-103128534

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.243C>T; p.L81L; 7:103128534-103128534

 lungcarcinoma; non_small_cell_carcinomaSubstitution - coding silent

c.1044C>T; p.A348A; 7:103115072-103115072

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.504C>T; p.S168S; 7:103120014-103120014

 skin; nipplemalignant_melanomaSubstitution - coding silent

c.791A>G; p.K264R; 7:103119727-103119727

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.506C>T; p.P169L; 7:103120012-103120012

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.506C>T; p.P169L; 7:103120012-103120012

 central_nervous_system; braingliomaSubstitution - Missense

c.571C>A; p.L191M; 7:103119947-103119947

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.324G>T; p.K108N; 7:103120194-103120194

 skinmalignant_melanomaSubstitution - Missense

c.254T>A; p.I85K; 7:103128523-103128523

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.146G>C; p.R49T; 7:103128631-103128631

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1037C>A; p.T346N; 7:103115079-103115079

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.939G>A; p.P313P; 7:103119579-103119579

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.998A>G; p.D333G; 7:103115118-103115118

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.617A>C; p.E206A; 7:103119901-103119901

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.68A>G; p.K23R; 7:103128709-103128709

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.438G>A; p.T146T; 7:103120080-103120080

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.928G>A; p.A310T; 7:103119590-103119590

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1120G>T; p.D374Y; 7:103103491-103103491

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.560A>G; p.H187R; 7:103119958-103119958

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.828G>A; p.W276*; 7:103119690-103119690

 skinmalignant_melanomaSubstitution - Nonsense

c.842delT; p.F281fs*14; 7:103119676-103119676

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.842delT; p.F281fs*14; 7:103119676-103119676

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.842delT; p.F281fs*14; 7:103119676-103119676

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.842delT; p.F281fs*14; 7:103119676-103119676

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.842delT; p.F281fs*14; 7:103119676-103119676

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.842delT; p.F281fs*14; 7:103119676-103119676

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.842delT; p.F281fs*14; 7:103119676-103119676

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.457C>T; p.R153C; 7:103120061-103120061

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.207G>A; p.W69*; 7:103128570-103128570

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Nonsense

c.833G>A; p.R278Q; 7:103119685-103119685

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.458G>A; p.R153H; 7:103120060-103120060

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.441T>A; p.D147E; 7:103120077-103120077

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.272G>T; p.S91I; 7:103128505-103128505

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.433C>A; p.L145I; 7:103120085-103120085

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.218A>G; p.K73R; 7:103128559-103128559

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1168G>A; p.D390N; 7:103103443-103103443

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.31A>T; p.M11L; 7:103128746-103128746

 large_intestine; caecumadenomaSubstitution - Missense

c.819G>A; p.L273L; 7:103119699-103119699

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.877G>C; p.E293Q; 7:103119641-103119641

 pancreascarcinomaSubstitution - Missense

c.249G>A; p.W83*; 7:103128528-103128528

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.402G>A; p.T134T; 7:103120116-103120116

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.92C>T; p.S31F; 7:103128685-103128685

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.92C>T; p.S31F; 7:103128685-103128685

 skinmalignant_melanomaSubstitution - Missense

c.203C>T; p.P68L; 7:103128574-103128574

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.319C>T; p.L107F; 7:103120199-103120199

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1134G>C; p.L378F; 7:103103477-103103477

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.393A>G; p.G131G; 7:103120125-103120125

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.842_843insT; p.A282fs*11; 7:103119675-103119676

 livercarcinomaInsertion - Frameshift

c.26C>T; p.S9F; 7:103128751-103128751

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.659A>C; p.Q220P; 7:103119859-103119859

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.355G>T; p.G119*; 7:103120163-103120163

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.618G>A; p.E206E; 7:103119900-103119900

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.618G>A; p.E206E; 7:103119900-103119900

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.539C>T; p.A180V; 7:103119979-103119979

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.496C>T; p.R166C; 7:103120022-103120022

 prostatecarcinomaSubstitution - Missense

c.496C>T; p.R166C; 7:103120022-103120022

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.496C>T; p.R166C; 7:103120022-103120022

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.52A>G; p.K18E; 7:103128725-103128725

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.693C>A; p.D231E; 7:103119825-103119825

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.454T>G; p.S152A; 7:103120064-103120064

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1131C>T; p.V377V; 7:103103480-103103480

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1131C>T; p.V377V; 7:103103480-103103480

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.675G>C; p.E225D; 7:103119843-103119843

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.889A>T; p.R297*; 7:103119629-103119629

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.507G>A; p.P169P; 7:103120011-103120011

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

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