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

Basic Information

Gene ID

5411

Name

PNN

Synonymous

pinin, desmosome associated protein;PNN;pinin, desmosome associated protein

Definition

140 kDa nuclear and cell adhesion-related phosphoprotein|SR-like protein|desmosome-associated protein|domain-rich serine protein|melanoma metastasis clone A protein|neutrophil protein|nuclear protein SDK3|pinin

Position

14q21.1

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

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 0.15.

The copy number variations for various cancers

Top

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.1605A>G; p.V535V; 14:39181314-39181314

 lungcarcinoma; mixed_small_cell_carcinoma-adenocarcinomaSubstitution - coding silent

c.658delG; p.E220fs*10; 14:39179327-39179327

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.1028C>T; p.A343V; 14:39180737-39180737

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1028C>T; p.A343V; 14:39180737-39180737

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1911C>T; p.G637G; 14:39181620-39181620

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1911C>T; p.G637G; 14:39181620-39181620

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.289C>T; p.R97C; 14:39177446-39177446

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1572A>G; p.L524L; 14:39181281-39181281

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1858G>A; p.D620N; 14:39181567-39181567

 skin; trunkmalignant_melanomaSubstitution - Missense

c.1229G>A; p.R410Q; 14:39180938-39180938

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2122C>G; p.R708G; 14:39181831-39181831

 breastcarcinomaSubstitution - Missense

c.1308T>A; p.D436E; 14:39181017-39181017

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.591A>C; p.E197D; 14:39179183-39179183

 pancreascarcinomaSubstitution - Missense

c.1510G>A; p.D504N; 14:39181219-39181219

 skin; extremitymalignant_melanomaSubstitution - Missense

c.1088A>C; p.E363A; 14:39180797-39180797

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1318A>T; p.K440*; 14:39181027-39181027

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1763C>T; p.T588I; 14:39181472-39181472

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.384T>C; p.L128L; 14:39177649-39177649

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.706A>G; p.K236E; 14:39179375-39179375

 central_nervous_system; braingliomaSubstitution - Missense

c.278G>C; p.R93T; 14:39177435-39177435

 breastcarcinoma; lobular_carcinomaSubstitution - Missense

c.1807A>T; p.S603C; 14:39181516-39181516

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.524A>C; p.Q175P; 14:39179116-39179116

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.475G>T; p.E159*; 14:39177893-39177893

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.76A>G; p.I26V; 14:39175355-39175355

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.802G>C; p.E268Q; 14:39180511-39180511

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1232T>G; p.V411G; 14:39180941-39180941

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2011A>G; p.S671G; 14:39181720-39181720

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2011A>G; p.S671G; 14:39181720-39181720

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1220A>G; p.E407G; 14:39180929-39180929

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1584G>T; p.K528N; 14:39181293-39181293

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1658A>C; p.K553T; 14:39181367-39181367

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1947C>T; p.S649S; 14:39181656-39181656

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.914C>T; p.A305V; 14:39180623-39180623

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.740G>A; p.R247K; 14:39179409-39179409

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1985G>T; p.R662I; 14:39181694-39181694

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1688G>A; p.R563K; 14:39181397-39181397

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.230G>C; p.R77T; 14:39176571-39176571

 breastcarcinomaSubstitution - Missense

c.1306G>C; p.D436H; 14:39181015-39181015

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.944G>A; p.R315Q; 14:39180653-39180653

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1224T>G; p.T408T; 14:39180933-39180933

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1209G>T; p.Q403H; 14:39180918-39180918

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1042G>A; p.D348N; 14:39180751-39180751

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.253A>G; p.R85G; 14:39176594-39176594

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1914G>T; p.R638R; 14:39181623-39181623

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2123G>A; p.R708Q; 14:39181832-39181832

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2123G>A; p.R708Q; 14:39181832-39181832

 large_intestine; coloncarcinomaSubstitution - Missense

c.2123G>A; p.R708Q; 14:39181832-39181832

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.15G>A; p.V5V; 14:39175294-39175294

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1620A>G; p.V540V; 14:39181329-39181329

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1620A>G; p.V540V; 14:39181329-39181329

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1748C>A; p.S583Y; 14:39181457-39181457

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.599G>A; p.R200H; 14:39179191-39179191

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1576G>C; p.E526Q; 14:39181285-39181285

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.504G>A; p.K168K; 14:39179096-39179096

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.792C>T; p.N264N; 14:39179461-39179461

 oesophaguscarcinomaSubstitution - coding silent

c.924A>C; p.E308D; 14:39180633-39180633

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.406G>A; p.E136K; 14:39177671-39177671

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.176T>C; p.L59S; 14:39176140-39176140

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.654+3G>C; p.?; 14:39179249-39179249

 lungcarcinoma; small_cell_carcinomaUnknown

c.1659G>C; p.K553N; 14:39181368-39181368

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1659G>C; p.K553N; 14:39181368-39181368

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.427C>T; p.R143W; 14:39177845-39177845

 skinmalignant_melanomaSubstitution - Missense

c.278G>A; p.R93K; 14:39177435-39177435

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.509G>A; p.R170H; 14:39179101-39179101

 skinmalignant_melanomaSubstitution - Missense

c.150T>C; p.P50P; 14:39176114-39176114

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.111G>C; p.V37V; 14:39175390-39175390

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.506G>A; p.R169Q; 14:39179098-39179098

 breastcarcinomaSubstitution - Missense

c.111G>C; p.V37V; 14:39175390-39175390

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2086C>T; p.R696*; 14:39181795-39181795

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.85C>T; p.L29F; 14:39175364-39175364

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.70G>A; p.E24K; 14:39175349-39175349

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1470C>T; p.S490S; 14:39181179-39181179

 skinmalignant_melanomaSubstitution - coding silent

c.1470C>T; p.S490S; 14:39181179-39181179

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.967G>T; p.G323C; 14:39180676-39180676

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1393G>T; p.E465*; 14:39181102-39181102

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.661G>A; p.E221K; 14:39179330-39179330

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1836T>C; p.S612S; 14:39181545-39181545

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1975G>T; p.G659*; 14:39181684-39181684

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.13G>T; p.V5L; 14:39175292-39175292

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1787C>T; p.S596F; 14:39181496-39181496

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1915G>A; p.G639R; 14:39181624-39181624

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1693C>T; p.R565*; 14:39181402-39181402

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.766A>G; p.I256V; 14:39179435-39179435

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1693C>T; p.R565*; 14:39181402-39181402

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1433C>A; p.P478H; 14:39181142-39181142

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.305C>T; p.P102L; 14:39177462-39177462

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1475C>G; p.P492R; 14:39181184-39181184

 bone; ribEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.756C>T; p.T252T; 14:39179425-39179425

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1545A>G; p.Q515Q; 14:39181254-39181254

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1270G>C; p.E424Q; 14:39180979-39180979

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.619C>T; p.R207W; 14:39179211-39179211

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.17G>A; p.R6K; 14:39175296-39175296

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.17G>A; p.R6K; 14:39175296-39175296

 skinmalignant_melanomaSubstitution - Missense

c.133C>T; p.L45L; 14:39176097-39176097

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1963A>C; p.R655R; 14:39181672-39181672

 thyroidother; neoplasmSubstitution - coding silent

c.120C>T; p.I40I; 14:39176084-39176084

 skinmalignant_melanomaSubstitution - coding silent

c.693A>G; p.K231K; 14:39179362-39179362

 stomachadenocarcinomaSubstitution - coding silent

c.114-5T>C; p.?; 14:39176073-39176073

 kidneyother; neoplasmUnknown

c.1578G>A; p.E526E; 14:39181287-39181287

 skinmalignant_melanomaSubstitution - coding silent

c.1713delC; p.S571fs*90; 14:39181422-39181422

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1206delC; p.Q403fs*3; 14:39180915-39180915

 ovarycarcinoma; serous_carcinomaDeletion - Frameshift

c.2029G>T; p.G677*; 14:39181738-39181738

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1267A>G; p.K423E; 14:39180976-39180976

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.308A>G; p.E103G; 14:39177465-39177465

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.750A>G; p.P250P; 14:39179419-39179419

 livercarcinomaSubstitution - coding silent

c.1179T>C; p.V393V; 14:39180888-39180888

 skinmalignant_melanomaSubstitution - coding silent

c.750A>G; p.P250P; 14:39179419-39179419

 livercarcinomaSubstitution - coding silent

c.1506T>C; p.P502P; 14:39181215-39181215

 thyroidcarcinomaSubstitution - coding silent

c.328-2A>C; p.?; 14:39177591-39177591

 lungcarcinoma; small_cell_carcinomaUnknown

c.751G>A; p.A251T; 14:39179420-39179420

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.901G>T; p.E301*; 14:39180610-39180610

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Nonsense

c.1185_1186delTG; p.V396fs*6; 14:39180894-39180895

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.767T>G; p.I256R; 14:39179436-39179436

 livercarcinomaSubstitution - Missense

c.767T>G; p.I256R; 14:39179436-39179436

 livercarcinomaSubstitution - Missense

c.668A>G; p.N223S; 14:39179337-39179337

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1608A>C; p.K536N; 14:39181317-39181317

 livercarcinomaSubstitution - Missense

c.793G>A; p.A265T; 14:39179462-39179462

 breastcarcinomaSubstitution - Missense

c.393T>A; p.D131E; 14:39177658-39177658

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1113G>C; p.E371D; 14:39180822-39180822

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.242G>A; p.G81E; 14:39176583-39176583

 livercarcinomaSubstitution - Missense

c.195C>A; p.F65L; 14:39176536-39176536

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.467T>A; p.F156Y; 14:39177885-39177885

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1466A>T; p.Q489L; 14:39181175-39181175

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1012G>C; p.E338Q; 14:39180721-39180721

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.368G>A; p.R123H; 14:39177633-39177633

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1300G>C; p.E434Q; 14:39181009-39181009

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1811G>A; p.R604H; 14:39181520-39181520

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1322C>T; p.T441I; 14:39181031-39181031

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1195G>T; p.V399L; 14:39180904-39180904

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1126G>A; p.E376K; 14:39180835-39180835

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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