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

Basic Information

Gene ID

29914

Name

UBIAD1

Synonymous

UbiA prenyltransferase domain containing 1;UBIAD1;UbiA prenyltransferase domain containing 1

Definition

transitional epithelia response protein|transitional epithelial response protein 1|ubiA prenyltransferase domain-containing protein 1

Position

1p36.22

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

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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 0.08.

The copy number variations for various cancers

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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.736G>A; p.V246I; 1:11285850-11285850

 stomachadenocarcinomaSubstitution - Missense

c.879C>A; p.A293A; 1:11285993-11285993

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.246G>T; p.R82S; 1:11273777-11273777

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.553C>T; p.L185L; 1:11285667-11285667

 skinmalignant_melanomaSubstitution - coding silent

c.854_855insC; p.L287fs*11; 1:11285968-11285969

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.854_855insC; p.L287fs*11; 1:11285968-11285969

 large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.854_855insC; p.L287fs*11; 1:11285968-11285969

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.640C>T; p.P214S; 1:11285754-11285754

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.664G>A; p.A222T; 1:11285778-11285778

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.656T>C; p.I219T; 1:11285770-11285770

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.816C>A; p.F272L; 1:11285930-11285930

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.289G>A; p.A97T; 1:11273820-11273820

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.289G>A; p.A97T; 1:11273820-11273820

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.901C>T; p.R301*; 1:11286015-11286015

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.127A>G; p.R43G; 1:11273658-11273658

 skinmalignant_melanomaSubstitution - Missense

c.731G>A; p.G244D; 1:11285845-11285845

 prostatecarcinomaSubstitution - Missense

c.889G>A; p.E297K; 1:11286003-11286003

 skinmalignant_melanomaSubstitution - Missense

c.299T>C; p.L100S; 1:11273830-11273830

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.277G>T; p.A93S; 1:11273808-11273808

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.414C>G; p.L138L; 1:11273945-11273945

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.47G>T; p.G16V; 1:11273578-11273578

 kidneyother; neoplasmSubstitution - Missense

c.610G>A; p.A204T; 1:11285724-11285724

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.856C>T; p.P286S; 1:11285970-11285970

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.283C>A; p.H95N; 1:11273814-11273814

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.822C>T; p.I274I; 1:11285936-11285936

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.843C>T; p.I281I; 1:11285957-11285957

 skinmalignant_melanomaSubstitution - coding silent

c.164C>A; p.P55H; 1:11273695-11273695

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.546C>T; p.Y182Y; 1:11285660-11285660

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.546C>T; p.Y182Y; 1:11285660-11285660

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.532A>T; p.I178F; 1:11285646-11285646

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.225C>T; p.S75S; 1:11273756-11273756

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.676G>A; p.E226K; 1:11285790-11285790

 breastcarcinomaSubstitution - Missense

c.311A>C; p.Y104S; 1:11273842-11273842

 breastcarcinomaSubstitution - Missense

c.311A>C; p.Y104S; 1:11273842-11273842

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.293G>T; p.G98V; 1:11273824-11273824

 pancreascarcinomaSubstitution - Missense

c.766T>C; p.F256L; 1:11285880-11285880

 skinmalignant_melanomaSubstitution - Missense

c.314A>G; p.Y105C; 1:11273845-11273845

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.706G>A; p.D236N; 1:11285820-11285820

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.300G>A; p.L100L; 1:11273831-11273831

 endometriumcarcinoma; serous_carcinomaSubstitution - coding silent

c.74A>G; p.D25G; 1:11273605-11273605

 ovaryother; neoplasmSubstitution - Missense

c.241C>T; p.P81S; 1:11273772-11273772

 skinmalignant_melanomaSubstitution - Missense

c.624G>T; p.G208G; 1:11285738-11285738

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.837C>T; p.C279C; 1:11285951-11285951

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.624G>T; p.G208G; 1:11285738-11285738

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.757G>T; p.G253C; 1:11285871-11285871

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.902G>A; p.R301Q; 1:11286016-11286016

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.459C>T; p.S153S; 1:11273990-11273990

 skinmalignant_melanomaSubstitution - coding silent

c.798C>T; p.F266F; 1:11285912-11285912

 skinmalignant_melanomaSubstitution - coding silent

c.951C>T; p.L317L; 1:11286065-11286065

 skinmalignant_melanomaSubstitution - coding silent

c.951C>T; p.L317L; 1:11286065-11286065

 skinmalignant_melanomaSubstitution - coding silent

c.798C>T; p.F266F; 1:11285912-11285912

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.765G>A; p.T255T; 1:11285879-11285879

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.880T>G; p.F294V; 1:11285994-11285994

 large_intestine; coloncarcinomaSubstitution - Missense

c.880T>G; p.F294V; 1:11285994-11285994

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.653C>T; p.A218V; 1:11285767-11285767

 pancreascarcinomaSubstitution - Missense

c.555delG; p.G186fs*14; 1:11285669-11285669

 lungcarcinoma; small_cell_carcinomaDeletion - Frameshift

c.661delC; p.L221fs*>118; 1:11285775-11285775

 prostatecarcinomaDeletion - Frameshift

c.659C>A; p.P220H; 1:11285773-11285773

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.822C>G; p.I274M; 1:11285936-11285936

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.623G>A; p.G208E; 1:11285737-11285737

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.981C>T; p.I327I; 1:11286095-11286095

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.400T>C; p.F134L; 1:11273931-11273931

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.633C>T; p.A211A; 1:11285747-11285747

 skinmalignant_melanomaSubstitution - coding silent

c.132G>T; p.Q44H; 1:11273663-11273663

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.680C>A; p.A227D; 1:11285794-11285794

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.547G>A; p.V183M; 1:11285661-11285661

 prostatecarcinomaSubstitution - Missense

c.924G>C; p.L308L; 1:11286038-11286038

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

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