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

Basic Information

Gene ID

130399

Name

ACVR1C

Synonymous

activin A receptor, type IC;ACVR1C;activin A receptor, type IC

Definition

ACTR-IC|ALK-7|activin receptor type IC|activin receptor type-1C|activin receptor-like kinase 7

Position

2q24.1

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 0.11.

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.955A>G; p.I319V; 2:157542851-157542851

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1222G>C; p.G408R; 2:157541093-157541093

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1097A>C; p.K366T; 2:157542709-157542709

 breastcarcinomaSubstitution - Missense

c.1081C>T; p.P361S; 2:157542725-157542725

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.91C>T; p.L31F; 2:157587400-157587400

 skinmalignant_melanomaSubstitution - Missense

c.649G>A; p.E217K; 2:157550288-157550288

 skinmalignant_melanomaSubstitution - Missense

c.451G>A; p.V151M; 2:157556186-157556186

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.682G>A; p.D228N; 2:157550255-157550255

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.441G>T; p.K147N; 2:157556196-157556196

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.524C>T; p.T175I; 2:157556113-157556113

 skin; nipplemalignant_melanomaSubstitution - Missense

c.524C>T; p.T175I; 2:157556113-157556113

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.616T>C; p.F206L; 2:157550321-157550321

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.902G>T; p.S301I; 2:157544486-157544486

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1384C>A; p.R462S; 2:157534016-157534016

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.956T>C; p.I319T; 2:157542850-157542850

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.956T>C; p.I319T; 2:157542850-157542850

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1444A>G; p.I482V; 2:157533956-157533956

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1281G>A; p.S427S; 2:157538648-157538648

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.325C>T; p.L109F; 2:157556312-157556312

 skinmalignant_melanomaSubstitution - Missense

c.1178C>A; p.S393Y; 2:157541137-157541137

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.935G>A; p.G312D; 2:157544453-157544453

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.935G>A; p.G312D; 2:157544453-157544453

 skinmalignant_melanomaSubstitution - Missense

c.1280C>T; p.S427L; 2:157538649-157538649

 skinmalignant_melanomaSubstitution - Missense

c.643T>G; p.C215G; 2:157550294-157550294

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.893C>T; p.S298L; 2:157544495-157544495

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1402A>G; p.N468D; 2:157533998-157533998

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1093A>G; p.T365A; 2:157542713-157542713

 skinmalignant_melanomaSubstitution - Missense

c.1407A>T; p.G469G; 2:157533993-157533993

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1077G>T; p.Q359H; 2:157542729-157542729

 pancreascarcinomaSubstitution - Missense

c.214C>G; p.Q72E; 2:157587277-157587277

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.689G>T; p.R230I; 2:157550248-157550248

 breastcarcinomaSubstitution - Missense

c.149T>G; p.V50G; 2:157587342-157587342

 prostatecarcinomaSubstitution - Missense

c.765T>A; p.A255A; 2:157550172-157550172

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.765T>A; p.A255A; 2:157550172-157550172

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.701G>C; p.R234P; 2:157550236-157550236

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.306A>C; p.A102A; 2:157556331-157556331

 breastcarcinomaSubstitution - coding silent

c.525C>T; p.T175T; 2:157556112-157556112

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.824A>G; p.Q275R; 2:157544564-157544564

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.525C>T; p.T175T; 2:157556112-157556112

 skin; nipplemalignant_melanomaSubstitution - coding silent

c.525C>T; p.T175T; 2:157556112-157556112

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.387G>A; p.A129A; 2:157556250-157556250

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.720G>A; p.Q240Q; 2:157550217-157550217

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.967G>T; p.D323Y; 2:157542839-157542839

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.831C>T; p.S277S; 2:157544557-157544557

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.222C>T; p.F74F; 2:157587269-157587269

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.275G>A; p.C92Y; 2:157587216-157587216

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.914A>C; p.H305P; 2:157544474-157544474

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.919C>T; p.H307Y; 2:157544469-157544469

 skinmalignant_melanomaSubstitution - Missense

c.1034C>T; p.A345V; 2:157542772-157542772

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.763G>A; p.A255T; 2:157550174-157550174

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.763G>A; p.A255T; 2:157550174-157550174

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.952_953GC>TT; p.A318F; 2:157542853-157542854

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.825G>T; p.Q275H; 2:157544563-157544563

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.304+2T>C; p.?; 2:157587185-157587185

 central_nervous_system; braingliomaUnknown

c.1066G>A; p.D356N; 2:157542740-157542740

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1198G>A; p.E400K; 2:157541117-157541117

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.612T>G; p.G204G; 2:157550325-157550325

 breastcarcinomaSubstitution - coding silent

c.138T>C; p.C46C; 2:157587353-157587353

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.305-2A>G; p.?; 2:157556334-157556334

 stomachcarcinoma; adenocarcinomaUnknown

c.451G>T; p.V151L; 2:157556186-157556186

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.487G>T; p.A163S; 2:157556150-157556150

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1379T>A; p.I460K; 2:157534021-157534021

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1321C>T; p.R441*; 2:157538608-157538608

 skinmalignant_melanomaSubstitution - Nonsense

c.1321C>T; p.R441*; 2:157538608-157538608

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1321C>T; p.R441*; 2:157538608-157538608

 skin; scalpmalignant_melanomaSubstitution - Nonsense

c.1321C>T; p.R441*; 2:157538608-157538608

 skinmalignant_melanomaSubstitution - Nonsense

c.1321C>T; p.R441*; 2:157538608-157538608

 skinmalignant_melanomaSubstitution - Nonsense

c.1321C>T; p.R441*; 2:157538608-157538608

 skinmalignant_melanomaSubstitution - Nonsense

c.1321C>T; p.R441*; 2:157538608-157538608

 skin; mucosalmalignant_melanomaSubstitution - Nonsense

c.1082C>T; p.P361L; 2:157542724-157542724

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.482T>C; p.V161A; 2:157556155-157556155

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1449T>C; p.S483S; 2:157533951-157533951

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.734G>A; p.R245Q; 2:157550203-157550203

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.625G>A; p.V209M; 2:157550312-157550312

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.964C>T; p.R322*; 2:157542842-157542842

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.192C>T; p.V64V; 2:157587299-157587299

 skinmalignant_melanomaSubstitution - coding silent

c.1169A>G; p.D390G; 2:157541146-157541146

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.964C>T; p.R322*; 2:157542842-157542842

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Nonsense

c.718C>A; p.Q240K; 2:157550219-157550219

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.956T>A; p.I319N; 2:157542850-157542850

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.996A>G; p.K332K; 2:157542810-157542810

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.114C>T; p.F38F; 2:157587377-157587377

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.109A>T; p.N37Y; 2:157587382-157587382

 meningesmeningioma; haemangiopericyticSubstitution - Missense

c.1415G>A; p.R472H; 2:157533985-157533985

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1415G>A; p.R472H; 2:157533985-157533985

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.542C>T; p.S181F; 2:157556095-157556095

 skinmalignant_melanomaSubstitution - Missense

c.981G>A; p.K327K; 2:157542825-157542825

 skinmalignant_melanomaSubstitution - coding silent

c.1285G>C; p.E429Q; 2:157538644-157538644

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.1285G>C; p.E429Q; 2:157538644-157538644

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1049C>G; p.S350*; 2:157542757-157542757

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.695G>T; p.W232L; 2:157550242-157550242

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.158C>A; p.T53N; 2:157587333-157587333

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1385G>A; p.R462H; 2:157534015-157534015

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1154C>A; p.S385Y; 2:157541161-157541161

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.1071A>T; p.I357I; 2:157542735-157542735

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.499C>T; p.L167L; 2:157556138-157556138

 breastcarcinomaSubstitution - coding silent

c.1404C>T; p.N468N; 2:157533996-157533996

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1404C>T; p.N468N; 2:157533996-157533996

 ovaryother; neoplasmSubstitution - coding silent

c.1276C>T; p.P426S; 2:157538653-157538653

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1414C>T; p.R472C; 2:157533986-157533986

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.799T>C; p.W267R; 2:157544589-157544589

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.799T>C; p.W267R; 2:157544589-157544589

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.610G>T; p.G204C; 2:157550327-157550327

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.584T>C; p.I195T; 2:157550353-157550353

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.387G>C; p.A129A; 2:157556250-157556250

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1267C>T; p.P423S; 2:157538662-157538662

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1146C>A; p.I382I; 2:157541169-157541169

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.233C>T; p.S78F; 2:157587258-157587258

 skin; legmalignant_melanomaSubstitution - Missense

c.765T>C; p.A255A; 2:157550172-157550172

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.233C>T; p.S78F; 2:157587258-157587258

 skin; legmalignant_melanomaSubstitution - Missense

c.826G>T; p.G276C; 2:157544562-157544562

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.672C>A; p.F224L; 2:157550265-157550265

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.469G>T; p.E157*; 2:157556168-157556168

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.549A>G; p.L183L; 2:157550388-157550388

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1049C>T; p.S350L; 2:157542757-157542757

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.426C>T; p.S142S; 2:157556211-157556211

 skinmalignant_melanomaSubstitution - coding silent

c.402G>T; p.W134C; 2:157556235-157556235

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.725T>C; p.V242A; 2:157550212-157550212

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.386C>T; p.A129V; 2:157556251-157556251

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.185C>T; p.S62F; 2:157587306-157587306

 skinmalignant_melanomaSubstitution - Missense

c.10G>A; p.A4T; 2:157628635-157628635

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1416C>T; p.R472R; 2:157533984-157533984

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.879C>T; p.I293I; 2:157544509-157544509

 central_nervous_system; braingliomaSubstitution - coding silent

c.291G>T; p.L97L; 2:157587200-157587200

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.678C>T; p.S226S; 2:157550259-157550259

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.544+8A>G; p.?; 2:157556085-157556085

 livercarcinomaUnknown

c.763G>T; p.A255S; 2:157550174-157550174

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.199C>T; p.P67S; 2:157587292-157587292

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1405G>A; p.G469R; 2:157533995-157533995

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.325_326CT>TA; p.L109Y; 2:157556311-157556312

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.793C>G; p.Q265E; 2:157544595-157544595

 NSNSSubstitution - Missense

c.582G>T; p.T194T; 2:157550355-157550355

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.756C>T; p.F252F; 2:157550181-157550181

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.756C>T; p.F252F; 2:157550181-157550181

 skinmalignant_melanomaSubstitution - coding silent

c.1322G>A; p.R441Q; 2:157538607-157538607

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.700C>T; p.R234C; 2:157550237-157550237

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.700C>T; p.R234C; 2:157550237-157550237

 skinmalignant_melanomaSubstitution - Missense

c.158_169del12; p.T53_E57>K; 2:157587322-157587333

 skin; head_neckcarcinoma; squamous_cell_carcinomaComplex - deletion inframe

c.1429C>T; p.R477C; 2:157533971-157533971

 skinmalignant_melanomaSubstitution - Missense

c.1255_1257delTAT; p.Y419delY; 2:157538672-157538674

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - In frame

c.268G>A; p.D90N; 2:157587223-157587223

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.268G>A; p.D90N; 2:157587223-157587223

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.863C>A; p.T288N; 2:157544525-157544525

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.837T>G; p.Y279*; 2:157544551-157544551

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.800G>A; p.W267*; 2:157544588-157544588

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.895A>G; p.I299V; 2:157544493-157544493

 lungcarcinoma; adenocarcinomaSubstitution - Missense

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