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

Basic Information

Gene ID

64651

Name

CSRNP1

Synonymous

cysteine-serine-rich nuclear protein 1;CSRNP1;cysteine-serine-rich nuclear protein 1

Definition

AXIN1 up-regulated 1|TGF-beta induced apoptosis protein 3|TGF-beta-induced apoptosis protein 3|axin-1 up-regulated gene 1 protein|cysteine/serine-rich nuclear protein 1

Position

3p22

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 0.15.

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.937G>A; p.E313K; 3:39143888-39143888

 skinmalignant_melanomaSubstitution - Missense

c.1357G>A; p.V453I; 3:39143468-39143468

 thyroidother; neoplasmSubstitution - Missense

c.1679C>T; p.S560F; 3:39143146-39143146

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.216C>T; p.I72I; 3:39145246-39145246

 skinmalignant_melanomaSubstitution - coding silent

c.574C>T; p.R192W; 3:39144343-39144343

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1218G>T; p.E406D; 3:39143607-39143607

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.930G>A; p.R310R; 3:39143895-39143895

 skinmalignant_melanomaSubstitution - coding silent

c.691C>T; p.R231C; 3:39144226-39144226

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1430G>T; p.S477I; 3:39143395-39143395

 large_intestine; colonadenomaSubstitution - Missense

c.422G>A; p.R141H; 3:39145040-39145040

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1212_1214delGGA; p.E411delE; 3:39143611-39143613

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; large_cellDeletion - In frame

c.1747C>G; p.L583V; 3:39143078-39143078

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.122G>A; p.R41H; 3:39146561-39146561

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1614C>T; p.P538P; 3:39143211-39143211

 skinmalignant_melanomaSubstitution - coding silent

c.583G>A; p.E195K; 3:39144334-39144334

 skinmalignant_melanomaSubstitution - Missense

c.1395C>T; p.F465F; 3:39143430-39143430

 skinmalignant_melanomaSubstitution - coding silent

c.1212_1224>GGAGGAGGAA; p.E411delE; 3:39143601-39143613

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; large_cellDeletion - In frame

c.252A>C; p.V84V; 3:39145210-39145210

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.616C>T; p.R206*; 3:39144301-39144301

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.945T>A; p.P315P; 3:39143880-39143880

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.793G>A; p.A265T; 3:39144032-39144032

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.386C>T; p.A129V; 3:39145076-39145076

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.981C>T; p.A327A; 3:39143844-39143844

 stomachadenocarcinomaSubstitution - coding silent

c.229C>A; p.R77S; 3:39145233-39145233

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.701G>T; p.R234L; 3:39144216-39144216

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1201G>C; p.D401H; 3:39143624-39143624

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.371C>A; p.S124Y; 3:39145091-39145091

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.245G>T; p.G82V; 3:39145217-39145217

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1665C>T; p.S555S; 3:39143160-39143160

 skinmalignant_melanomaSubstitution - coding silent

c.53C>T; p.S18L; 3:39146630-39146630

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.317G>A; p.R106H; 3:39145145-39145145

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1517A>T; p.E506V; 3:39143308-39143308

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.365G>A; p.R122H; 3:39145097-39145097

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1281C>T; p.D427D; 3:39143544-39143544

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.150C>T; p.P50P; 3:39146533-39146533

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1068T>C; p.S356S; 3:39143757-39143757

 thyroidother; neoplasmSubstitution - coding silent

c.532G>A; p.A178T; 3:39144385-39144385

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.671A>G; p.K224R; 3:39144246-39144246

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.987C>T; p.V329V; 3:39143838-39143838

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.441G>T; p.E147D; 3:39145021-39145021

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.672G>A; p.K224K; 3:39144245-39144245

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.667G>A; p.E223K; 3:39144250-39144250

 skin; armmalignant_melanomaSubstitution - Missense

c.1178G>A; p.R393H; 3:39143647-39143647

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1368G>T; p.E456D; 3:39143457-39143457

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.92G>C; p.R31P; 3:39146591-39146591

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.134C>A; p.S45*; 3:39146549-39146549

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.683A>G; p.Q228R; 3:39144234-39144234

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1349C>T; p.T450I; 3:39143476-39143476

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.531C>T; p.D177D; 3:39144386-39144386

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1014C>T; p.P338P; 3:39143811-39143811

 skinmalignant_melanomaSubstitution - coding silent

c.1620T>C; p.P540P; 3:39143205-39143205

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1705C>T; p.P569S; 3:39143120-39143120

 skinmalignant_melanomaSubstitution - Missense

c.1705C>T; p.P569S; 3:39143120-39143120

 skinmalignant_melanomaSubstitution - Missense

c.1705C>T; p.P569S; 3:39143120-39143120

 skinmalignant_melanomaSubstitution - Missense

c.644G>T; p.G215V; 3:39144273-39144273

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.644G>T; p.G215V; 3:39144273-39144273

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1082C>T; p.S361L; 3:39143743-39143743

 skinmalignant_melanomaSubstitution - Missense

c.148C>T; p.P50S; 3:39146535-39146535

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.778C>T; p.Q260*; 3:39144139-39144139

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.661C>T; p.R221W; 3:39144256-39144256

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1745C>T; p.S582F; 3:39143080-39143080

 livercarcinomaSubstitution - Missense

c.1231G>A; p.E411K; 3:39143594-39143594

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1295G>C; p.S432T; 3:39143530-39143530

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.232C>T; p.R78W; 3:39145230-39145230

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.407G>A; p.R136Q; 3:39145055-39145055

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.407G>A; p.R136Q; 3:39145055-39145055

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.286delC; p.R96fs*49; 3:39145176-39145176

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.664G>A; p.E222K; 3:39144253-39144253

 skinmalignant_melanomaSubstitution - Missense

c.1454C>T; p.P485L; 3:39143371-39143371

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1634C>T; p.P545L; 3:39143191-39143191

 skinmalignant_melanomaSubstitution - Missense

c.1426G>A; p.G476S; 3:39143399-39143399

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1064C>T; p.S355F; 3:39143761-39143761

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.623G>A; p.R208Q; 3:39144294-39144294

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.323G>A; p.G108D; 3:39145139-39145139

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.678G>A; p.E226E; 3:39144239-39144239

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.387G>A; p.A129A; 3:39145075-39145075

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.387G>A; p.A129A; 3:39145075-39145075

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.942C>T; p.A314A; 3:39143883-39143883

 skinmalignant_melanomaSubstitution - coding silent

c.942C>T; p.A314A; 3:39143883-39143883

 skinmalignant_melanomaSubstitution - coding silent

c.1689C>A; p.A563A; 3:39143136-39143136

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1690G>T; p.A564S; 3:39143135-39143135

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.347G>A; p.R116H; 3:39145115-39145115

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1472G>A; p.R491Q; 3:39143353-39143353

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.810C>T; p.C270C; 3:39144015-39144015

 breastcarcinomaSubstitution - coding silent

c.28G>T; p.D10Y; 3:39146655-39146655

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1690G>A; p.A564T; 3:39143135-39143135

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1465G>T; p.A489S; 3:39143360-39143360

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.23A>C; p.K8T; 3:39146660-39146660

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1212_1224>GGAGGAGGAA; p.E411delE; 3:39143601-39143613

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; large_cellDeletion - In frame

c.692G>A; p.R231H; 3:39144225-39144225

 breastcarcinomaSubstitution - Missense

c.1331A>G; p.Y444C; 3:39143494-39143494

 breastcarcinomaSubstitution - Missense

c.552G>A; p.L184L; 3:39144365-39144365

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.657C>T; p.I219I; 3:39144260-39144260

 breastcarcinomaSubstitution - coding silent

c.657C>T; p.I219I; 3:39144260-39144260

 skinmalignant_melanomaSubstitution - coding silent

c.657C>T; p.I219I; 3:39144260-39144260

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.783G>T; p.M261I; 3:39144042-39144042

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

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