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

Basic Information

Gene ID

6294

Name

SAFB

Synonymous

scaffold attachment factor B;SAFB;scaffold attachment factor B

Definition

HSP27 ERE-TATA-binding protein|HSP27 estrogen response element-TATA box-binding protein|Hsp27 ERE-TATA binding protein|SAB-B1|SAF-B|glutathione S-transferase fusion protein|heat-shock protein (HSP27) estrogen response element and TATA box-binding protein|

Position

19p13.3-p13.2

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.1876C>T; p.R626C; 19:5661531-5661531

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1943C>T; p.A648V; 19:5661598-5661598

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1987C>A; p.R663S; 19:5661642-5661642

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1936G>T; p.E646*; 19:5661591-5661591

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2227C>A; p.Q743K; 19:5664095-5664095

 livercarcinomaSubstitution - Missense

c.1915C>T; p.R639C; 19:5661570-5661570

 ovarycarcinoma; adenocarcinomaSubstitution - Missense

c.1334G>T; p.G445V; 19:5653155-5653155

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2371G>A; p.G791S; 19:5667082-5667082

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1278C>T; p.F426F; 19:5651057-5651057

 skinmalignant_melanomaSubstitution - coding silent

c.2320G>C; p.E774Q; 19:5664425-5664425

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2741G>A; p.R914H; 19:5668284-5668284

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2737C>G; p.R913G; 19:5668280-5668280

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2128G>C; p.V710L; 19:5661783-5661783

 ovaryother; neoplasmSubstitution - Missense

c.2287G>A; p.D763N; 19:5664155-5664155

 livercarcinomaSubstitution - Missense

c.1471A>T; p.T491S; 19:5653365-5653365

 breastcarcinomaSubstitution - Missense

c.1471A>T; p.T491S; 19:5653365-5653365

 salivary_glandcarcinoma; adenoid_cystic_carcinomaSubstitution - Missense

c.632A>G; p.E211G; 19:5648038-5648038

 livercarcinomaSubstitution - Missense

c.632A>G; p.E211G; 19:5648038-5648038

 livercarcinomaSubstitution - Missense

c.2491C>T; p.R831W; 19:5667390-5667390

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2730C>T; p.R910R; 19:5668273-5668273

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1684C>T; p.R562W; 19:5654385-5654385

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1433_1434CC>TT; p.S478F; 19:5653254-5653255

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1364C>T; p.S455F; 19:5653185-5653185

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2515G>A; p.G839R; 19:5667414-5667414

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.1459G>A; p.V487M; 19:5653353-5653353

 skinmalignant_melanomaSubstitution - Missense

c.2633C>T; p.A878V; 19:5668176-5668176

 skinmalignant_melanomaSubstitution - Missense

c.2044C>T; p.R682C; 19:5661699-5661699

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.231T>C; p.I77I; 19:5626446-5626446

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.1269G>C; p.K423N; 19:5651048-5651048

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.558A>C; p.K186N; 19:5645348-5645348

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1811C>T; p.S604F; 19:5657296-5657296

 skinmalignant_melanomaSubstitution - Missense

c.1737G>A; p.T579T; 19:5654438-5654438

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.309C>G; p.N103K; 19:5641628-5641628

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.487A>G; p.S163G; 19:5641887-5641887

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2443C>T; p.P815S; 19:5667154-5667154

 skinmalignant_melanomaSubstitution - Missense

c.2627G>T; p.S876I; 19:5668170-5668170

 livercarcinomaSubstitution - Missense

c.1903G>T; p.A635S; 19:5661558-5661558

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1367C>T; p.T456I; 19:5653188-5653188

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2393delG; p.G800fs*8; 19:5667104-5667104

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.2393delG; p.G800fs*8; 19:5667104-5667104

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.2393delG; p.G800fs*8; 19:5667104-5667104

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2393delG; p.G800fs*8; 19:5667104-5667104

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.626C>T; p.S209F; 19:5648032-5648032

 skinmalignant_melanomaSubstitution - Missense

c.1639T>A; p.S547T; 19:5654173-5654173

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.483G>A; p.S161S; 19:5641883-5641883

 breastcarcinomaSubstitution - coding silent

c.1410G>A; p.T470T; 19:5653231-5653231

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2507C>T; p.T836M; 19:5667406-5667406

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2286G>T; p.V762V; 19:5664154-5664154

 livercarcinomaSubstitution - coding silent

c.2641G>A; p.G881R; 19:5668184-5668184

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1645C>T; p.R549*; 19:5654179-5654179

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.190-1G>A; p.?; 19:5626404-5626404

 livercarcinomaUnknown

c.190-1G>A; p.?; 19:5626404-5626404

 livercarcinomaUnknown

c.1316C>T; p.T439I; 19:5653137-5653137

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.2408C>T; p.S803F; 19:5667119-5667119

 skinmalignant_melanomaSubstitution - Missense

c.1946_1947delGA; p.R651fs*39; 19:5661601-5661602

 endometriumcarcinoma; endometrioid_carcinomaDeletion - Frameshift

c.2208C>T; p.Y736Y; 19:5664076-5664076

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2729G>A; p.R910H; 19:5668272-5668272

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1390A>G; p.I464V; 19:5653211-5653211

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1243T>A; p.S415T; 19:5651022-5651022

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2696G>T; p.G899V; 19:5668239-5668239

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1534A>G; p.N512D; 19:5654068-5654068

 breastcarcinomaSubstitution - Missense

c.616G>A; p.E206K; 19:5648022-5648022

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.20G>T; p.G7V; 19:5623225-5623225

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.431T>C; p.V144A; 19:5641831-5641831

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.431T>C; p.V144A; 19:5641831-5641831

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.431T>C; p.V144A; 19:5641831-5641831

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1885C>T; p.R629C; 19:5661540-5661540

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1652G>A; p.R551Q; 19:5654186-5654186

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1323C>T; p.A441A; 19:5653144-5653144

 skinmalignant_melanomaSubstitution - coding silent

c.361G>T; p.E121*; 19:5641761-5641761

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2311A>T; p.M771L; 19:5664416-5664416

 breastcarcinomaSubstitution - Missense

c.2721C>T; p.S907S; 19:5668264-5668264

 skinmalignant_melanomaSubstitution - coding silent

c.2705G>A; p.R902Q; 19:5668248-5668248

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.219C>T; p.D73D; 19:5626434-5626434

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2323C>T; p.R775*; 19:5664428-5664428

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Nonsense

c.2327A>G; p.E776G; 19:5664432-5664432

 lungcarcinoid-endocrine_tumour; typicalSubstitution - Missense

c.190-7delT; p.?; 19:5626398-5626398

 stomachadenocarcinomaUnknown

c.1605G>C; p.K535N; 19:5654139-5654139

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1772A>G; p.D591G; 19:5657257-5657257

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.554A>G; p.D185G; 19:5645344-5645344

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2566A>G; p.M856V; 19:5667834-5667834

 livercarcinomaSubstitution - Missense

c.2242G>A; p.D748N; 19:5664110-5664110

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2566A>G; p.M856V; 19:5667834-5667834

 livercarcinomaSubstitution - Missense

c.430G>A; p.V144I; 19:5641830-5641830

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1211_1213delGTG; p.G405delG; 19:5650990-5650992

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.430G>A; p.V144I; 19:5641830-5641830

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1723A>G; p.I575V; 19:5654424-5654424

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.430G>A; p.V144I; 19:5641830-5641830

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1443+3G>A; p.?; 19:5653267-5653267

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaUnknown

c.2035G>T; p.E679*; 19:5661690-5661690

 large_intestine; colonadenomaSubstitution - Nonsense

c.2555G>A; p.G852D; 19:5667823-5667823

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.285_287delAGA; p.E98delE; 19:5641604-5641606

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.2515delG; p.G840fs*2; 19:5667414-5667414

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.2477G>A; p.R826Q; 19:5667376-5667376

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1192G>T; p.E398*; 19:5649969-5649969

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.2140T>A; p.Y714N; 19:5661795-5661795

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemiaSubstitution - Missense

c.1460T>C; p.V487A; 19:5653354-5653354

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1460T>C; p.V487A; 19:5653354-5653354

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1285T>C; p.Y429H; 19:5651064-5651064

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1958C>A; p.A653D; 19:5661613-5661613

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.66C>T; p.A22A; 19:5623271-5623271

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2334+1G>T; p.?; 19:5664440-5664440

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1741G>A; p.G581R; 19:5654442-5654442

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2623G>A; p.G875S; 19:5668166-5668166

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2628C>T; p.S876S; 19:5668171-5668171

 livercarcinomaSubstitution - coding silent

c.2464G>T; p.G822W; 19:5667363-5667363

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.233_234CC>TT; p.T78I; 19:5626448-5626449

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2329G>C; p.G777R; 19:5664434-5664434

 lungcarcinoid-endocrine_tumour; typicalSubstitution - Missense

c.1567G>C; p.D523H; 19:5654101-5654101

 pancreascarcinomaSubstitution - Missense

c.1567G>C; p.D523H; 19:5654101-5654101

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1494C>T; p.D498D; 19:5653388-5653388

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1494C>T; p.D498D; 19:5653388-5653388

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2580C>A; p.S860S; 19:5667848-5667848

 skinmalignant_melanomaSubstitution - coding silent

c.1925G>A; p.R642H; 19:5661580-5661580

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.378C>T; p.I126I; 19:5641778-5641778

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1672C>T; p.R558*; 19:5654373-5654373

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1672C>T; p.R558*; 19:5654373-5654373

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1166C>T; p.S389L; 19:5649943-5649943

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2087G>A; p.R696H; 19:5661742-5661742

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2552-2A>T; p.?; 19:5667818-5667818

 lungcarcinoma; adenocarcinomaUnknown

c.2347C>T; p.R783C; 19:5667058-5667058

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2347C>T; p.R783C; 19:5667058-5667058

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.406G>A; p.E136K; 19:5641806-5641806

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.406G>A; p.E136K; 19:5641806-5641806

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.501C>T; p.V167V; 19:5641901-5641901

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.445G>A; p.E149K; 19:5641845-5641845

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1753A>G; p.R585G; 19:5654454-5654454

 livercarcinomaSubstitution - Missense

c.1967G>A; p.R656H; 19:5661622-5661622

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1967G>A; p.R656H; 19:5661622-5661622

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.458C>T; p.A153V; 19:5641858-5641858

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1967G>A; p.R656H; 19:5661622-5661622

 large_intestine; coloncarcinomaSubstitution - Missense

c.1967G>A; p.R656H; 19:5661622-5661622

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1695A>G; p.V565V; 19:5654396-5654396

 breastcarcinomaSubstitution - coding silent

c.2447C>T; p.P816L; 19:5667158-5667158

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2620C>T; p.R874C; 19:5668163-5668163

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2185C>T; p.R729W; 19:5664053-5664053

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1358C>T; p.T453M; 19:5653179-5653179

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2619-16_2619-2delGTGAATTTGTTCCTA; p.?; 19:5668146-5668160

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.2149G>A; p.D717N; 19:5661804-5661804

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1862+1G>T; p.?; 19:5657348-5657348

 large_intestine; rectumcarcinoma; adenocarcinomaUnknown

c.1433C>T; p.S478F; 19:5653254-5653254

 skinmalignant_melanomaSubstitution - Missense

c.1577A>G; p.K526R; 19:5654111-5654111

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.429C>T; p.S143S; 19:5641829-5641829

 large_intestine; colonNSSubstitution - coding silent

c.2462delG; p.D823fs*19; 19:5667361-5667361

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1825A>G; p.K609E; 19:5657310-5657310

 breastcarcinomaSubstitution - Missense

c.1803C>T; p.S601S; 19:5657288-5657288

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.587C>T; p.S196L; 19:5645377-5645377

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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