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

Basic Information

Gene ID

57491

Name

AHRR

Synonymous

aryl-hydrocarbon receptor repressor;AHRR;aryl-hydrocarbon receptor repressor

Definition

ahR repressor|aryl hydrocarbon hydroxylase regulator|aryl hydrocarbon receptor repressor|class E basic helix-loop-helix protein 77|dioxin receptor repressor

Position

5p15.3

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 0.03.

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.249C>A; p.F83L; 5:353904-353904

 central_nervous_system; thalamusglioma; astrocytoma_Grade_IIISubstitution - Missense

c.1480G>A; p.G494S; 5:434154-434154

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1093C>T; p.R365*; 5:432862-432862

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1480G>A; p.G494S; 5:434154-434154

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.598C>T; p.L200L; 5:423855-423855

 skinmalignant_melanomaSubstitution - coding silent

c.75-1G>A; p.?; 5:353729-353729

 stomachcarcinoma; adenocarcinomaUnknown

c.1567G>T; p.A523S; 5:434241-434241

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.423A>G; p.A141A; 5:413403-413403

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.423A>G; p.A141A; 5:413403-413403

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1863G>A; p.R621R; 5:434537-434537

 skinmalignant_melanomaSubstitution - coding silent

c.979A>C; p.K327Q; 5:432467-432467

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.847C>T; p.P283S; 5:427879-427879

 skinmalignant_melanomaSubstitution - Missense

c.94G>C; p.E32Q; 5:353749-353749

 breastcarcinomaSubstitution - Missense

c.839C>T; p.A280V; 5:427871-427871

 skinmalignant_melanomaSubstitution - Missense

c.1980C>T; p.G660G; 5:434654-434654

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.807G>T; p.L269L; 5:427839-427839

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1899C>T; p.F633F; 5:434573-434573

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.864G>T; p.L288L; 5:427896-427896

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.304C>T; p.P102S; 5:376657-376657

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.188C>T; p.S63F; 5:353843-353843

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1194G>A; p.E398E; 5:433868-433868

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1643C>T; p.T548M; 5:434317-434317

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.974+5G>T; p.?; 5:428011-428011

 livercarcinomaUnknown

c.520C>T; p.Q174*; 5:422795-422795

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.725G>A; p.R242Q; 5:427641-427641

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.890_891insC; p.S299fs*64; 5:427922-427923

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.680G>T; p.C227F; 5:423937-423937

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.1256C>T; p.T419I; 5:433930-433930

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.762C>A; p.P254P; 5:427678-427678

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.849G>A; p.P283P; 5:427881-427881

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.157A>C; p.S53R; 5:353812-353812

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.854G>A; p.R285Q; 5:427886-427886

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.157A>G; p.S53G; 5:353812-353812

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.584G>A; p.G195E; 5:423841-423841

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2078G>A; p.G693E; 5:434752-434752

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1933G>C; p.D645H; 5:434607-434607

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1933G>C; p.D645H; 5:434607-434607

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1933G>C; p.D645H; 5:434607-434607

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1799C>A; p.S600Y; 5:434473-434473

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1040G>A; p.R347K; 5:432809-432809

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.861G>A; p.S287S; 5:427893-427893

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.236G>C; p.R79P; 5:353891-353891

 skinmalignant_melanomaSubstitution - Missense

c.1657G>A; p.V553M; 5:434331-434331

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.319C>G; p.P107A; 5:376672-376672

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.737C>A; p.A246D; 5:427653-427653

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1571C>T; p.T524M; 5:434245-434245

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.896C>G; p.S299C; 5:427928-427928

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.902C>T; p.A301V; 5:427934-427934

 skinmalignant_melanomaSubstitution - Missense

c.902C>T; p.A301V; 5:427934-427934

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.902C>T; p.A301V; 5:427934-427934

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1371G>T; p.L457L; 5:434045-434045

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.612C>G; p.L204L; 5:423869-423869

 central_nervous_system; braingliomaSubstitution - coding silent

c.892C>T; p.P298S; 5:427924-427924

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.955G>A; p.A319T; 5:427987-427987

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.688C>T; p.R230C; 5:423945-423945

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1949C>T; p.S650L; 5:434623-434623

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.652T>G; p.S218A; 5:423909-423909

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.193C>T; p.L65L; 5:353848-353848

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.1179G>A; p.G393G; 5:433853-433853

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1424C>T; p.P475L; 5:434098-434098

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.252C>G; p.F84L; 5:353907-353907

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.258C>G; p.V86V; 5:376611-376611

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.1280G>A; p.G427E; 5:433954-433954

 oesophaguscarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1453C>T; p.R485W; 5:434127-434127

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.985A>G; p.T329A; 5:432473-432473

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.569C>T; p.P190L; 5:422844-422844

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.784T>G; p.F262V; 5:427816-427816

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1000G>A; p.E334K; 5:432488-432488

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.258C>A; p.V86V; 5:376611-376611

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.492C>T; p.H164H; 5:422767-422767

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1524G>A; p.R508R; 5:434198-434198

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.167C>T; p.P56L; 5:353822-353822

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.565C>G; p.P189A; 5:422840-422840

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1517C>T; p.P506L; 5:434191-434191

 skinmalignant_melanomaSubstitution - Missense

c.565C>G; p.P189A; 5:422840-422840

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.565C>G; p.P189A; 5:422840-422840

 thyroidother; neoplasmSubstitution - Missense

c.562C>A; p.Q188K; 5:422837-422837

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.565C>G; p.P189A; 5:422840-422840

 thyroidother; neoplasmSubstitution - Missense

c.565C>G; p.P189A; 5:422840-422840

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.202C>T; p.L68F; 5:353857-353857

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1059C>T; p.G353G; 5:432828-432828

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1479C>T; p.V493V; 5:434153-434153

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.947C>A; p.A316E; 5:427979-427979

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.749G>A; p.R250Q; 5:427665-427665

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1289G>T; p.S430I; 5:433963-433963

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1546C>G; p.Q516E; 5:434220-434220

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1142G>A; p.G381D; 5:432911-432911

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1641G>A; p.P547P; 5:434315-434315

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.455C>T; p.T152M; 5:422730-422730

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.455C>T; p.T152M; 5:422730-422730

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.921C>T; p.S307S; 5:427953-427953

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.852G>A; p.P284P; 5:427884-427884

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.128G>A; p.R43H; 5:353783-353783

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.40G>T; p.A14S; 5:343930-343930

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1843G>T; p.G615W; 5:434517-434517

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1830G>C; p.G610G; 5:434504-434504

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.215G>A; p.R72H; 5:353870-353870

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.91G>A; p.A31T; 5:353746-353746

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.399A>G; p.E133E; 5:413379-413379

 breastcarcinomaSubstitution - coding silent

c.1085A>G; p.D362G; 5:432854-432854

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1172G>T; p.G391V; 5:432941-432941

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.193C>G; p.L65V; 5:353848-353848

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1751A>C; p.H584P; 5:434425-434425

 breastcarcinomaSubstitution - Missense

c.737_738insT; p.W247fs*116; 5:427653-427654

 central_nervous_system; brainglioma; astrocytoma_Grade_IVInsertion - Frameshift

c.1111G>A; p.A371T; 5:432880-432880

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.853C>T; p.R285W; 5:427885-427885

 breastcarcinomaSubstitution - Missense

c.344A>G; p.E115G; 5:376697-376697

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.335C>T; p.A112V; 5:376688-376688

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.853C>T; p.R285W; 5:427885-427885

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.898G>A; p.A300T; 5:427930-427930

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1760C>T; p.T587I; 5:434434-434434

 skinmalignant_melanomaSubstitution - Missense

c.1136G>T; p.R379L; 5:432905-432905

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1143C>T; p.G381G; 5:432912-432912

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.639G>A; p.T213T; 5:423896-423896

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1882A>T; p.R628W; 5:434556-434556

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1641G>T; p.P547P; 5:434315-434315

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1792C>G; p.P598A; 5:434466-434466

 breastcarcinomaSubstitution - Missense

c.1109C>T; p.P370L; 5:432878-432878

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.876G>A; p.A292A; 5:427908-427908

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.539A>G; p.D180G; 5:422814-422814

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.836G>A; p.G279E; 5:427868-427868

 skinmalignant_melanomaSubstitution - Missense

c.288G>A; p.A96A; 5:376641-376641

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.882C>T; p.P294P; 5:427914-427914

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1191G>T; p.E397D; 5:433865-433865

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.882C>T; p.P294P; 5:427914-427914

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1460G>T; p.S487I; 5:434134-434134

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1833C>T; p.H611H; 5:434507-434507

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1833C>T; p.H611H; 5:434507-434507

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1540C>T; p.L514F; 5:434214-434214

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1278G>A; p.A426A; 5:433952-433952

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1840C>T; p.R614W; 5:434514-434514

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.975-1G>A; p.?; 5:432462-432462

 breastcarcinoma; ductal_carcinomaUnknown

c.815_817delAGA; p.K275delK; 5:427847-427849

 large_intestinecarcinoma; adenocarcinomaDeletion - In frame

c.371A>G; p.N124S; 5:413351-413351

 prostatecarcinomaSubstitution - Missense

c.577G>A; p.E193K; 5:422852-422852

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1585A>T; p.M529L; 5:434259-434259

 skinmalignant_melanomaSubstitution - Missense

c.235C>T; p.R79W; 5:353890-353890

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.224T>C; p.V75A; 5:353879-353879

 breastcarcinomaSubstitution - Missense

c.405G>A; p.T135T; 5:413385-413385

 central_nervous_system; braingliomaSubstitution - coding silent

c.777G>A; p.T259T; 5:427809-427809

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.263A>G; p.Q88R; 5:376616-376616

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2117C>T; p.T706M; 5:434791-434791

 peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.1434C>A; p.S478S; 5:434108-434108

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2150T>C; p.F717S; 5:434824-434824

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.502C>T; p.R168C; 5:422777-422777

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - Missense

c.493G>A; p.V165M; 5:422768-422768

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1876C>T; p.R626C; 5:434550-434550

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.846C>T; p.L282L; 5:427878-427878

 breastcarcinomaSubstitution - coding silent

c.1975C>T; p.R659W; 5:434649-434649

 breastcarcinomaSubstitution - Missense

c.975-1G>A; p.?; 5:432462-432462

 breastcarcinoma; ductal_carcinomaUnknown

c.180C>T; p.D60D; 5:353835-353835

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.855G>A; p.R285R; 5:427887-427887

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1424C>A; p.P475Q; 5:434098-434098

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1179-2A>G; p.?; 5:433851-433851

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

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