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

Basic Information

Gene ID

6596

Name

HLTF

Synonymous

helicase-like transcription factor;HLTF;helicase-like transcription factor

Definition

DNA-binding protein/plasminogen activator inhibitor 1 regulator|DNA-binding protein/plasminogen activator inhibitor-1 regulator|RING finger protein 80|SNF2-like 3|SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, mem

Position

3q25.1-q26.1

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 0.14.

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.1726T>A; p.L576I; 3:149048893-149048893

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1186G>T; p.E396*; 3:149060833-149060833

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1443C>G; p.I481M; 3:149055333-149055333

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2192C>T; p.P731L; 3:149042171-149042171

 skinmalignant_melanomaSubstitution - Missense

c.2510C>T; p.A837V; 3:149039686-149039686

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1265A>T; p.E422V; 3:149060663-149060663

 pancreascarcinomaSubstitution - Missense

c.1265A>T; p.E422V; 3:149060663-149060663

 pancreascarcinomaSubstitution - Missense

c.1265A>T; p.E422V; 3:149060663-149060663

 pancreascarcinomaSubstitution - Missense

c.1265A>T; p.E422V; 3:149060663-149060663

 pancreascarcinomaSubstitution - Missense

c.1265A>T; p.E422V; 3:149060663-149060663

 pancreascarcinomaSubstitution - Missense

c.1265A>T; p.E422V; 3:149060663-149060663

 pancreascarcinomaSubstitution - Missense

c.1265A>T; p.E422V; 3:149060663-149060663

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.530-2A>G; p.?; 3:149073324-149073324

 lungcarcinoma; adenocarcinomaUnknown

c.1017G>T; p.M339I; 3:149064840-149064840

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.799C>T; p.R267*; 3:149071347-149071347

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2759A>G; p.N920S; 3:149039086-149039086

 ovarycarcinomaSubstitution - Missense

c.2759A>G; p.N920S; 3:149039086-149039086

 ovarycarcinomaSubstitution - Missense

c.657A>C; p.E219D; 3:149071628-149071628

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.281A>G; p.D94G; 3:149075995-149075995

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2407G>T; p.D803Y; 3:149040126-149040126

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1084G>C; p.E362Q; 3:149063507-149063507

 thyroidother; neoplasmSubstitution - Missense

c.800G>A; p.R267Q; 3:149071346-149071346

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1687C>T; p.R563*; 3:149048932-149048932

 pancreascarcinomaSubstitution - Nonsense

c.1687C>T; p.R563*; 3:149048932-149048932

 pancreascarcinomaSubstitution - Nonsense

c.2515A>T; p.M839L; 3:149039681-149039681

 skin; extremitymalignant_melanomaSubstitution - Missense

c.799C>A; p.R267R; 3:149071347-149071347

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2452G>A; p.A818T; 3:149040081-149040081

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1982G>A; p.R661H; 3:149046170-149046170

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1859G>A; p.R620H; 3:149048061-149048061

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.127A>T; p.I43F; 3:149084783-149084783

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.129C>T; p.I43I; 3:149084781-149084781

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.684T>C; p.H228H; 3:149071601-149071601

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2979C>G; p.D993E; 3:149032271-149032271

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1068C>T; p.D356D; 3:149063523-149063523

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2979C>T; p.D993D; 3:149032271-149032271

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2979C>T; p.D993D; 3:149032271-149032271

 breastcarcinomaSubstitution - coding silent

c.895-1G>A; p.?; 3:149068336-149068336

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1278G>T; p.R426S; 3:149060650-149060650

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2122C>G; p.L708V; 3:149042241-149042241

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1227G>A; p.P409P; 3:149060792-149060792

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.909G>A; p.T303T; 3:149068321-149068321

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1013C>G; p.S338C; 3:149064844-149064844

 breastcarcinomaSubstitution - Missense

c.2495G>A; p.S832N; 3:149040038-149040038

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1300G>T; p.V434F; 3:149059793-149059793

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.21-4delA; p.?; 3:149084893-149084893

 stomachadenocarcinomaUnknown

c.285G>C; p.K95N; 3:149075991-149075991

 pancreascarcinomaSubstitution - Missense

c.2145T>A; p.I715I; 3:149042218-149042218

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1400delA; p.K467fs*13; 3:149055376-149055376

 livercarcinomaDeletion - Frameshift

c.2763G>T; p.L921L; 3:149039082-149039082

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1280C>T; p.A427V; 3:149060648-149060648

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1664T>C; p.I555T; 3:149048955-149048955

 kidneyother; neoplasmSubstitution - Missense

c.516T>C; p.G172G; 3:149074228-149074228

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.266C>T; p.P89L; 3:149076010-149076010

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2173G>T; p.A725S; 3:149042190-149042190

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1531G>A; p.G511S; 3:149050318-149050318

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2198G>A; p.G733E; 3:149041668-149041668

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.939T>C; p.H313H; 3:149068291-149068291

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.166G>T; p.D56Y; 3:149084744-149084744

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.455G>A; p.G152E; 3:149074289-149074289

 skinmalignant_melanomaSubstitution - Missense

c.816T>A; p.Y272*; 3:149071330-149071330

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.2873C>T; p.T958I; 3:149034922-149034922

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.28G>A; p.V10I; 3:149084882-149084882

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.560G>A; p.G187D; 3:149073292-149073292

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2445A>G; p.E815E; 3:149040088-149040088

 breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.908C>A; p.T303K; 3:149068322-149068322

 oesophaguscarcinomaSubstitution - Missense

c.2445A>G; p.E815E; 3:149040088-149040088

 livercarcinomaSubstitution - coding silent

c.477G>T; p.A159A; 3:149074267-149074267

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - coding silent

c.2980G>A; p.E994K; 3:149032270-149032270

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.327C>T; p.G109G; 3:149075949-149075949

 skinmalignant_melanomaSubstitution - coding silent

c.286A>C; p.N96H; 3:149075990-149075990

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.257_259delAAC; p.Q86delQ; 3:149076017-149076019

 breastcarcinomaDeletion - In frame

c.2651C>T; p.S884F; 3:149039194-149039194

 skinmalignant_melanomaSubstitution - Missense

c.1037C>T; p.T346I; 3:149064820-149064820

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1688G>A; p.R563Q; 3:149048931-149048931

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1688G>A; p.R563Q; 3:149048931-149048931

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1190G>A; p.S397N; 3:149060829-149060829

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1946A>C; p.K649T; 3:149046206-149046206

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.221C>T; p.T74M; 3:149084689-149084689

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.221C>T; p.T74M; 3:149084689-149084689

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.925C>T; p.L309F; 3:149068305-149068305

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2515A>C; p.M839L; 3:149039681-149039681

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.482C>T; p.S161L; 3:149074262-149074262

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.482C>T; p.S161L; 3:149074262-149074262

 skinmalignant_melanomaSubstitution - Missense

c.1740A>G; p.R580R; 3:149048879-149048879

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.71A>G; p.N24S; 3:149084839-149084839

 ovaryother; neoplasmSubstitution - Missense

c.71A>G; p.N24S; 3:149084839-149084839

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1588A>G; p.T530A; 3:149050261-149050261

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2664G>T; p.K888N; 3:149039181-149039181

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2719A>G; p.I907V; 3:149039126-149039126

 skinmalignant_melanomaSubstitution - Missense

c.2328A>G; p.A776A; 3:149041538-149041538

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2328A>G; p.A776A; 3:149041538-149041538

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.190A>C; p.R64R; 3:149084720-149084720

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1559T>C; p.L520S; 3:149050290-149050290

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.21-1G>A; p.?; 3:149084890-149084890

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.2517G>A; p.M839I; 3:149039679-149039679

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.112G>T; p.E38*; 3:149084798-149084798

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1893G>T; p.R631S; 3:149046259-149046259

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.159A>G; p.E53E; 3:149084751-149084751

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2804A>C; p.N935T; 3:149034991-149034991

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.404C>T; p.P135L; 3:149074340-149074340

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1277G>T; p.R426M; 3:149060651-149060651

 skinmalignant_melanomaSubstitution - Missense

c.2297C>A; p.S766Y; 3:149041569-149041569

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.470G>A; p.R157K; 3:149074274-149074274

 skinmalignant_melanomaSubstitution - Missense

c.2002A>G; p.I668V; 3:149046150-149046150

 livercarcinomaSubstitution - Missense

c.172G>A; p.V58I; 3:149084738-149084738

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.435T>G; p.P145P; 3:149074309-149074309

 central_nervous_system; braingliomaSubstitution - coding silent

c.285G>T; p.K95N; 3:149075991-149075991

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2652C>T; p.S884S; 3:149039193-149039193

 skinmalignant_melanomaSubstitution - coding silent

c.2226G>A; p.K742K; 3:149041640-149041640

 skinmalignant_melanomaSubstitution - coding silent

c.1763C>T; p.P588L; 3:149048157-149048157

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.712A>C; p.T238P; 3:149071434-149071434

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2075A>T; p.Y692F; 3:149042288-149042288

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1069G>A; p.A357T; 3:149063522-149063522

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1406C>T; p.T469I; 3:149055370-149055370

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.637G>A; p.E213K; 3:149071648-149071648

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1792T>G; p.S598A; 3:149048128-149048128

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1004A>G; p.N335S; 3:149064853-149064853

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1203G>T; p.E401D; 3:149060816-149060816

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3000T>G; p.I1000M; 3:149032250-149032250

 breastcarcinomaSubstitution - Missense

c.1224G>A; p.L408L; 3:149060795-149060795

 pancreascarcinomaSubstitution - coding silent

c.726A>T; p.P242P; 3:149071420-149071420

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2777G>A; p.R926Q; 3:149039068-149039068

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.403C>T; p.P135S; 3:149074341-149074341

 skinmalignant_melanomaSubstitution - Missense

c.2777G>A; p.R926Q; 3:149039068-149039068

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1013C>A; p.S338Y; 3:149064844-149064844

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1495A>C; p.K499Q; 3:149050354-149050354

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2468A>C; p.K823T; 3:149040065-149040065

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.79C>T; p.R27C; 3:149084831-149084831

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.382G>A; p.A128T; 3:149075894-149075894

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2656G>A; p.A886T; 3:149039189-149039189

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1454C>T; p.S485F; 3:149055322-149055322

 livercarcinomaSubstitution - Missense

c.1454C>T; p.S485F; 3:149055322-149055322

 livercarcinomaSubstitution - Missense

c.2260T>C; p.S754P; 3:149041606-149041606

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1432A>G; p.T478A; 3:149055344-149055344

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.795A>G; p.E265E; 3:149071351-149071351

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1376-3delT; p.?; 3:149055403-149055403

 stomachadenocarcinomaUnknown

c.9G>A; p.W3*; 3:149086328-149086328

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.2880C>G; p.F960L; 3:149032370-149032370

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.952C>G; p.L318V; 3:149068278-149068278

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1640A>T; p.H547L; 3:149048979-149048979

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2367G>A; p.Q789Q; 3:149041499-149041499

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.975G>T; p.K325N; 3:149068255-149068255

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.463G>T; p.E155*; 3:149074281-149074281

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.864T>C; p.H288H; 3:149071282-149071282

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1151G>A; p.R384H; 3:149063440-149063440

 pancreascarcinomaSubstitution - Missense

c.1151G>A; p.R384H; 3:149063440-149063440

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1151G>A; p.R384H; 3:149063440-149063440

 pancreascarcinomaSubstitution - Missense

c.1151G>A; p.R384H; 3:149063440-149063440

 pancreascarcinomaSubstitution - Missense

c.1151G>A; p.R384H; 3:149063440-149063440

 pancreascarcinomaSubstitution - Missense

c.1151G>A; p.R384H; 3:149063440-149063440

 pancreascarcinomaSubstitution - Missense

c.86C>G; p.S29*; 3:149084824-149084824

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.86C>G; p.S29*; 3:149084824-149084824

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.2225A>C; p.K742T; 3:149041641-149041641

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1151G>T; p.R384L; 3:149063440-149063440

 livercarcinomaSubstitution - Missense

c.1151G>T; p.R384L; 3:149063440-149063440

 livercarcinomaSubstitution - Missense

c.1429A>G; p.T477A; 3:149055347-149055347

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.790T>C; p.W264R; 3:149071356-149071356

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.659A>G; p.D220G; 3:149071626-149071626

 lung; left_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1626A>C; p.G542G; 3:149048993-149048993

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.859G>T; p.V287F; 3:149071287-149071287

 breastcarcinomaSubstitution - Missense

c.1474G>T; p.D492Y; 3:149050375-149050375

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2521G>A; p.A841T; 3:149039675-149039675

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.749G>A; p.W250*; 3:149071397-149071397

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.749G>A; p.W250*; 3:149071397-149071397

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1928G>C; p.R643T; 3:149046224-149046224

 pancreascarcinomaSubstitution - Missense

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