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

Basic Information

Gene ID

3104

Name

ZBTB48

Synonymous

zinc finger and BTB domain containing 48;ZBTB48;zinc finger and BTB domain containing 48

Definition

GLI-Kruppel family member HKR3|krueppel-related zinc finger protein 3|zinc finger and BTB domain-containing protein 48|zinc finger protein 855

Position

1p36.3

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

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 0.13.

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.1338G>A; p.S446S; 1:6587591-6587591

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.84C>T; p.A28A; 1:6580693-6580693

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1590C>T; p.F530F; 1:6588351-6588351

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2001C>T; p.T667T; 1:6589146-6589146

 thyroidcarcinoma; anaplastic_carcinomaSubstitution - coding silent

c.84C>T; p.A28A; 1:6580693-6580693

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.985T>C; p.F329L; 1:6585971-6585971

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.615G>T; p.K205N; 1:6581224-6581224

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1097G>A; p.R366Q; 1:6586747-6586747

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1038G>A; p.S346S; 1:6586024-6586024

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1210C>T; p.P404S; 1:6587277-6587277

 livercarcinomaSubstitution - Missense

c.1210C>T; p.P404S; 1:6587277-6587277

 livercarcinomaSubstitution - Missense

c.157A>G; p.S53G; 1:6580766-6580766

 skinmalignant_melanomaSubstitution - Missense

c.1087A>T; p.M363L; 1:6586737-6586737

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1767A>G; p.R589R; 1:6588841-6588841

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1877T>C; p.V626A; 1:6589022-6589022

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1877T>C; p.V626A; 1:6589022-6589022

 large_intestine; coloncarcinomaSubstitution - Missense

c.266C>G; p.S89*; 1:6580875-6580875

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2023T>G; p.S675A; 1:6589168-6589168

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1990G>A; p.E664K; 1:6589135-6589135

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1453C>T; p.R485C; 1:6588133-6588133

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1913C>T; p.S638L; 1:6589058-6589058

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1949G>A; p.G650D; 1:6589094-6589094

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1592C>T; p.T531I; 1:6588353-6588353

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1686G>T; p.V562V; 1:6588760-6588760

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1125G>A; p.E375E; 1:6586775-6586775

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1642C>T; p.R548W; 1:6588403-6588403

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.419G>C; p.S140T; 1:6581028-6581028

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.22_23delCA; p.H8fs*30; 1:6580631-6580632

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.2020delC; p.S675fs*>14; 1:6589165-6589165

 breastcarcinomaDeletion - Frameshift

c.94G>T; p.V32L; 1:6580703-6580703

 breastcarcinomaSubstitution - Missense

c.1970G>A; p.G657D; 1:6589115-6589115

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1970G>A; p.G657D; 1:6589115-6589115

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.614A>T; p.K205M; 1:6581223-6581223

 ovaryother; neoplasmSubstitution - Missense

c.1055G>T; p.C352F; 1:6586705-6586705

 livercarcinomaSubstitution - Missense

c.1055G>T; p.C352F; 1:6586705-6586705

 livercarcinomaSubstitution - Missense

c.207C>T; p.F69F; 1:6580816-6580816

 skinmalignant_melanomaSubstitution - coding silent

c.1538G>A; p.R513H; 1:6588299-6588299

 breastcarcinomaSubstitution - Missense

c.1272G>A; p.L424L; 1:6587525-6587525

 livercarcinomaSubstitution - coding silent

c.981T>C; p.C327C; 1:6585967-6585967

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1272G>A; p.L424L; 1:6587525-6587525

 livercarcinomaSubstitution - coding silent

c.684T>C; p.S228S; 1:6581293-6581293

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1063T>C; p.C355R; 1:6586713-6586713

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1114C>G; p.H372D; 1:6586764-6586764

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1508G>A; p.R503Q; 1:6588188-6588188

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.865G>A; p.V289M; 1:6582232-6582232

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1823C>T; p.P608L; 1:6588968-6588968

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1114C>G; p.H372D; 1:6586764-6586764

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1823C>T; p.P608L; 1:6588968-6588968

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.929A>G; p.N310S; 1:6582296-6582296

 breastcarcinomaSubstitution - Missense

c.1515A>T; p.Q505H; 1:6588195-6588195

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1454G>A; p.R485H; 1:6588134-6588134

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1454G>A; p.R485H; 1:6588134-6588134

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.177_178insG; p.S62fs*10; 1:6580786-6580787

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.19C>T; p.Q7*; 1:6580628-6580628

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1912T>A; p.S638T; 1:6589057-6589057

 livercarcinomaSubstitution - Missense

c.87T>A; p.T29T; 1:6580696-6580696

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1874T>C; p.V625A; 1:6589019-6589019

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.167G>A; p.G56E; 1:6580776-6580776

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.120C>T; p.H40H; 1:6580729-6580729

 prostateadenomaSubstitution - coding silent

c.1968C>T; p.P656P; 1:6589113-6589113

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.197C>T; p.P66L; 1:6580806-6580806

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.921A>T; p.K307N; 1:6582288-6582288

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.560C>T; p.S187F; 1:6581169-6581169

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.322G>A; p.V108I; 1:6580931-6580931

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.984C>T; p.Y328Y; 1:6585970-6585970

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.819G>T; p.A273A; 1:6582186-6582186

 kidneyother; neoplasmSubstitution - coding silent

c.1860C>T; p.D620D; 1:6589005-6589005

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1191G>A; p.M397I; 1:6587258-6587258

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1468G>C; p.E490Q; 1:6588148-6588148

 livercarcinomaSubstitution - Missense

c.1468G>C; p.E490Q; 1:6588148-6588148

 livercarcinomaSubstitution - Missense

c.924C>G; p.V308V; 1:6582291-6582291

 prostateadenomaSubstitution - coding silent

c.1426C>A; p.Q476K; 1:6588106-6588106

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1765C>T; p.R589*; 1:6588839-6588839

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.773C>G; p.S258*; 1:6582140-6582140

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1048T>C; p.F350L; 1:6586698-6586698

 pancreascarcinomaSubstitution - Missense

c.1006G>C; p.E336Q; 1:6585992-6585992

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.114G>A; p.K38K; 1:6580723-6580723

 pancreascarcinomaSubstitution - coding silent

c.114G>A; p.K38K; 1:6580723-6580723

 pancreascarcinomaSubstitution - coding silent

c.1006G>C; p.E336Q; 1:6585992-6585992

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.596C>T; p.P199L; 1:6581205-6581205

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1967C>T; p.P656L; 1:6589112-6589112

 skinmalignant_melanomaSubstitution - Missense

c.1233C>G; p.T411T; 1:6587486-6587486

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1105A>G; p.M369V; 1:6586755-6586755

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1275T>C; p.H425H; 1:6587528-6587528

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.728G>A; p.G243D; 1:6582095-6582095

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.274C>T; p.R92W; 1:6580883-6580883

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.718G>T; p.D240Y; 1:6582085-6582085

 skin; handcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2034C>G; p.I678M; 1:6589179-6589179

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.448G>T; p.E150*; 1:6581057-6581057

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1446G>A; p.M482I; 1:6588126-6588126

 livercarcinomaSubstitution - Missense

c.1446G>A; p.M482I; 1:6588126-6588126

 livercarcinomaSubstitution - Missense

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