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

Basic Information

Gene ID

55259

Name

CASC1

Synonymous

cancer susceptibility candidate 1;CASC1;cancer susceptibility candidate 1

Definition

cancer susceptibility candidate gene 1 protein|cancer susceptibility candidate protein 1|lung adenoma susceptibility 1-like protein|protein CASC1|protein phosphatase 1, regulatory subunit 54

Position

12p12.1

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 0.17.

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.1761G>T; p.K587N; 12:25111772-25111772

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.858G>T; p.K286N; 12:25144491-25144491

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.187G>T; p.E63*; 12:25155406-25155406

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.838C>T; p.L280F; 12:25144511-25144511

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.102G>A; p.L34L; 12:25158550-25158550

 skinmalignant_melanomaSubstitution - coding silent

c.166C>A; p.R56R; 12:25158486-25158486

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1227C>G; p.L409L; 12:25119296-25119296

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.150G>A; p.E50E; 12:25158502-25158502

 skinmalignant_melanomaSubstitution - coding silent

c.889G>A; p.E297K; 12:25144460-25144460

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1866C>T; p.V622V; 12:25110136-25110136

 skinmalignant_melanomaSubstitution - coding silent

c.194G>A; p.R65K; 12:25155399-25155399

 skin; trunkmalignant_melanoma; nodularSubstitution - Missense

c.713A>G; p.E238G; 12:25144636-25144636

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1213A>G; p.I405V; 12:25121761-25121761

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.751C>G; p.R251G; 12:25144598-25144598

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2084C>T; p.S695F; 12:25108615-25108615

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1209G>A; p.W403*; 12:25121765-25121765

 breastcarcinomaSubstitution - Nonsense

c.613G>T; p.V205F; 12:25147059-25147059

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1765C>T; p.P589S; 12:25110237-25110237

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1894G>A; p.E632K; 12:25108805-25108805

 skinmalignant_melanomaSubstitution - Missense

c.181G>A; p.D61N; 12:25155412-25155412

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.637C>T; p.L213L; 12:25147035-25147035

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.707G>A; p.G236E; 12:25144642-25144642

 skinmalignant_melanomaSubstitution - Missense

c.672-5A>C; p.?; 12:25144682-25144682

 ovaryother; neoplasmUnknown

c.30C>G; p.T10T; 12:25161171-25161171

 breastcarcinomaSubstitution - coding silent

c.1607T>C; p.M536T; 12:25111926-25111926

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.454A>C; p.T152P; 12:25149741-25149741

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.814G>T; p.E272*; 12:25144535-25144535

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.814G>T; p.E272*; 12:25144535-25144535

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.814G>T; p.E272*; 12:25144535-25144535

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.814G>T; p.E272*; 12:25144535-25144535

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.89-9G>A; p.?; 12:25158572-25158572

 livercarcinomaUnknown

c.1285G>A; p.E429K; 12:25119238-25119238

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.673C>A; p.H225N; 12:25144676-25144676

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1446C>T; p.F482F; 12:25114803-25114803

 skinmalignant_melanomaSubstitution - coding silent

c.1876-3_1876-2ins19; p.?; 12:25108825-25108826

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.216T>G; p.L72L; 12:25155377-25155377

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1502C>T; p.P501L; 12:25114747-25114747

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1646C>T; p.S549F; 12:25111887-25111887

 livercarcinomaSubstitution - Missense

c.1646C>T; p.S549F; 12:25111887-25111887

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1646C>T; p.S549F; 12:25111887-25111887

 livercarcinomaSubstitution - Missense

c.714G>T; p.E238D; 12:25144635-25144635

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1705G>A; p.G569R; 12:25111828-25111828

 skin; upper_legmalignant_melanomaSubstitution - Missense

c.1223T>C; p.I408T; 12:25119300-25119300

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1635G>T; p.K545N; 12:25111898-25111898

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.254T>C; p.L85S; 12:25155339-25155339

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2002G>A; p.E668K; 12:25108697-25108697

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2148C>A; p.S716S; 12:25108551-25108551

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1593+2T>A; p.?; 12:25114654-25114654

 prostatecarcinomaUnknown

c.1952A>G; p.Q651R; 12:25108747-25108747

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1790G>A; p.R597Q; 12:25110212-25110212

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.32A>C; p.K11T; 12:25161169-25161169

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.910G>T; p.E304*; 12:25144439-25144439

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.82G>C; p.E28Q; 12:25161119-25161119

 central_nervous_system; brainglioma; oligodendroglioma_Grade_IIISubstitution - Missense

c.1692T>A; p.A564A; 12:25111841-25111841

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1038A>T; p.V346V; 12:25123233-25123233

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1988C>A; p.S663Y; 12:25108711-25108711

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1716C>T; p.I572I; 12:25111817-25111817

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.87A>T; p.E29D; 12:25161114-25161114

 boneosteosarcomaSubstitution - Missense

c.1195C>A; p.P399T; 12:25121779-25121779

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.278C>T; p.S93F; 12:25155315-25155315

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.115G>T; p.E39*; 12:25158537-25158537

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.751C>T; p.R251*; 12:25144598-25144598

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.143G>A; p.R48Q; 12:25158509-25158509

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.143G>A; p.R48Q; 12:25158509-25158509

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.143G>A; p.R48Q; 12:25158509-25158509

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.67_69delGAG; p.E23delE; 12:25161132-25161134

 lungcarcinoma; adenocarcinomaDeletion - In frame

c.143G>A; p.R48Q; 12:25158509-25158509

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.61G>A; p.E21K; 12:25161140-25161140

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1333G>T; p.V445L; 12:25119190-25119190

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.780T>C; p.V260V; 12:25144569-25144569

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.690C>A; p.F230L; 12:25144659-25144659

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.314C>A; p.P105H; 12:25154425-25154425

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.677G>T; p.R226I; 12:25144672-25144672

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.824C>T; p.S275F; 12:25144525-25144525

 breastcarcinomaSubstitution - Missense

c.1732T>A; p.S578T; 12:25111801-25111801

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1695G>T; p.L565F; 12:25111838-25111838

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.525_526CC>TT; p.L176F; 12:25149669-25149670

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1502C>G; p.P501R; 12:25114747-25114747

 prostatecarcinomaSubstitution - Missense

c.1080G>T; p.E360D; 12:25121894-25121894

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1483G>A; p.D495N; 12:25114766-25114766

 skinmalignant_melanomaSubstitution - Missense

c.1280A>G; p.E427G; 12:25119243-25119243

 central_nervous_system; braingliomaSubstitution - Missense

c.570A>T; p.Q190H; 12:25147102-25147102

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1407C>A; p.S469R; 12:25114842-25114842

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1322T>C; p.V441A; 12:25119201-25119201

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.98G>A; p.R33H; 12:25158554-25158554

 pancreascarcinomaSubstitution - Missense

c.516G>A; p.L172L; 12:25149679-25149679

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.847G>T; p.D283Y; 12:25144502-25144502

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1016A>C; p.K339T; 12:25123255-25123255

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1387T>C; p.W463R; 12:25114862-25114862

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.18A>T; p.K6N; 12:25161183-25161183

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1745T>G; p.V582G; 12:25111788-25111788

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.888C>T; p.V296V; 12:25144461-25144461

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.888C>T; p.V296V; 12:25144461-25144461

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.752G>A; p.R251Q; 12:25144597-25144597

 skinmalignant_melanomaSubstitution - Missense

c.1404C>T; p.I468I; 12:25114845-25114845

 skinmalignant_melanomaSubstitution - coding silent

c.167G>A; p.R56Q; 12:25158485-25158485

 breastcarcinomaSubstitution - Missense

c.875T>C; p.I292T; 12:25144474-25144474

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.1798G>A; p.A600T; 12:25110204-25110204

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1672C>T; p.P558S; 12:25111861-25111861

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1809T>C; p.S603S; 12:25110193-25110193

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1807A>C; p.S603R; 12:25110195-25110195

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1924C>T; p.L642F; 12:25108775-25108775

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1924C>T; p.L642F; 12:25108775-25108775

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.791A>G; p.H264R; 12:25144558-25144558

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.653A>G; p.N218S; 12:25147019-25147019

 skinmalignant_melanomaSubstitution - Missense

c.97C>A; p.R33S; 12:25158555-25158555

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.97C>A; p.R33S; 12:25158555-25158555

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.97C>A; p.R33S; 12:25158555-25158555

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2024C>G; p.T675S; 12:25108675-25108675

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1745_1747delTTA; p.I584delI; 12:25111786-25111788

 lungcarcinoma; squamous_cell_carcinomaDeletion - In frame

c.568-1G>T; p.?; 12:25147105-25147105

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1415C>T; p.S472F; 12:25114834-25114834

 skinmalignant_melanomaSubstitution - Missense

c.345G>A; p.T115T; 12:25154394-25154394

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.398A>G; p.E133G; 12:25154341-25154341

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.790C>T; p.H264Y; 12:25144559-25144559

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.790C>T; p.H264Y; 12:25144559-25144559

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.141G>A; p.Q47Q; 12:25158511-25158511

 skinmalignant_melanomaSubstitution - coding silent

c.1388G>A; p.W463*; 12:25114861-25114861

 skinmalignant_melanomaSubstitution - Nonsense

c.419A>C; p.N140T; 12:25154320-25154320

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.419A>G; p.N140S; 12:25154320-25154320

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1911T>G; p.N637K; 12:25108788-25108788

 ovaryother; neoplasmSubstitution - Missense

c.89A>G; p.E30G; 12:25158563-25158563

 breastcarcinomaSubstitution - Missense

c.1950A>G; p.A650A; 12:25108749-25108749

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.774T>C; p.D258D; 12:25144575-25144575

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.35C>T; p.A12V; 12:25161166-25161166

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.2054C>G; p.S685C; 12:25108645-25108645

 pancreascarcinomaSubstitution - Missense

c.1960A>C; p.K654Q; 12:25108739-25108739

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.41G>C; p.R14P; 12:25161160-25161160

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.41G>C; p.R14P; 12:25161160-25161160

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.532C>G; p.L178V; 12:25149663-25149663

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1923C>T; p.A641A; 12:25108776-25108776

 skinmalignant_melanomaSubstitution - coding silent

c.1045G>A; p.E349K; 12:25123226-25123226

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.101T>C; p.L34S; 12:25158551-25158551

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1711A>C; p.N571H; 12:25111822-25111822

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1401C>T; p.G467G; 12:25114848-25114848

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.714G>A; p.E238E; 12:25144635-25144635

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1260G>T; p.P420P; 12:25119263-25119263

 oesophaguscarcinomaSubstitution - coding silent

c.371C>A; p.T124K; 12:25154368-25154368

 breastcarcinomaSubstitution - Missense

c.37G>A; p.E13K; 12:25161164-25161164

 skinmalignant_melanomaSubstitution - Missense

c.402G>A; p.K134K; 12:25154337-25154337

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1908G>T; p.E636D; 12:25108791-25108791

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.712G>T; p.E238*; 12:25144637-25144637

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.211G>T; p.E71*; 12:25155382-25155382

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.712G>T; p.E238*; 12:25144637-25144637

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.632T>C; p.V211A; 12:25147040-25147040

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1876-3_1876-2ins18; p.?; 12:25108825-25108826

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.1876-3_1876-2ins18; p.?; 12:25108825-25108826

 oesophagus; lower_thirdcarcinoma; adenocarcinomaUnknown

c.202G>A; p.E68K; 12:25155391-25155391

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.994G>A; p.E332K; 12:25123277-25123277

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1867G>A; p.V623I; 12:25110135-25110135

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1392A>C; p.R464S; 12:25114857-25114857

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.568C>G; p.Q190E; 12:25147104-25147104

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

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