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

Basic Information

Gene ID

10206

Name

TRIM13

Synonymous

tripartite motif containing 13;TRIM13;tripartite motif containing 13

Definition

B-cell chronic lymphocytic leukemia tumor suppressor Leu5|CLL-associated RING finger|E3 ubiquitin-protein ligase TRIM13|RING finger protein 77|leukemia-associated protein 5|putative tumor suppressor RFP2|ret finger protein 2|tripartite motif protein 13|tr

Position

13q14

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 0.19.

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.1198_1199delTT; p.F400fs*5; 13:50013138-50013139

 breastcarcinomaDeletion - Frameshift

c.889C>T; p.L297F; 13:50012829-50012829

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1150G>A; p.E384K; 13:50013090-50013090

 breastcarcinomaSubstitution - Missense

c.99C>T; p.C33C; 13:50012039-50012039

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.583C>T; p.Q195*; 13:50012523-50012523

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.583C>T; p.Q195*; 13:50012523-50012523

 ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.621G>A; p.M207I; 13:50012561-50012561

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.274C>T; p.P92S; 13:50012214-50012214

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.246T>C; p.Y82Y; 13:50012186-50012186

 livercarcinomaSubstitution - coding silent

c.875T>C; p.V292A; 13:50012815-50012815

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.460C>T; p.R154W; 13:50012400-50012400

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.253A>G; p.I85V; 13:50012193-50012193

 central_nervous_system; braingliomaSubstitution - Missense

c.445T>C; p.F149L; 13:50012385-50012385

 breastcarcinomaSubstitution - Missense

c.207G>A; p.L69L; 13:50012147-50012147

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.464G>T; p.G155V; 13:50012404-50012404

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1161G>T; p.K387N; 13:50013101-50013101

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1068C>G; p.S356S; 13:50013008-50013008

 ovaryother; neoplasmSubstitution - coding silent

c.752A>G; p.Q251R; 13:50012692-50012692

 thyroidcarcinomaSubstitution - Missense

c.739G>A; p.V247I; 13:50012679-50012679

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.461G>A; p.R154Q; 13:50012401-50012401

 stomachadenocarcinomaSubstitution - Missense

c.107G>C; p.G36A; 13:50012047-50012047

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.927G>A; p.K309K; 13:50012867-50012867

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.458G>A; p.R153H; 13:50012398-50012398

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.13_15delGAA; p.E6delE; 13:50011953-50011955

 oesophaguscarcinoma; adenocarcinomaDeletion - In frame

c.555T>A; p.F185L; 13:50012495-50012495

 skinmalignant_melanomaSubstitution - Missense

c.299A>G; p.Q100R; 13:50012239-50012239

 breastcarcinomaSubstitution - Missense

c.1129G>A; p.D377N; 13:50013069-50013069

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.651A>G; p.P217P; 13:50012591-50012591

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.389C>G; p.S130C; 13:50012329-50012329

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.349T>C; p.C117R; 13:50012289-50012289

 stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.837G>T; p.K279N; 13:50012777-50012777

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1200T>A; p.F400L; 13:50013140-50013140

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1090T>G; p.F364V; 13:50013030-50013030

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.792A>C; p.E264D; 13:50012732-50012732

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.554T>G; p.F185C; 13:50012494-50012494

 breastcarcinomaSubstitution - Missense

c.584A>G; p.Q195R; 13:50012524-50012524

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1201G>T; p.V401L; 13:50013141-50013141

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.859_864GAAGAC>T; p.E287fs*8; 13:50012799-50012804

 NSNSComplex - frameshift

c.394G>A; p.E132K; 13:50012334-50012334

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.860_864delAAGAC; p.E287fs*8; 13:50012800-50012804

 NSNSDeletion - Frameshift

c.248A>G; p.N83S; 13:50012188-50012188

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.248A>G; p.N83S; 13:50012188-50012188

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.206T>C; p.L69P; 13:50012146-50012146

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.997A>T; p.T333S; 13:50012937-50012937

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.997A>T; p.T333S; 13:50012937-50012937

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.206T>C; p.L69P; 13:50012146-50012146

 skinmalignant_melanomaSubstitution - Missense

c.611T>C; p.F204S; 13:50012551-50012551

 lungcarcinoma; large_cell_carcinomaSubstitution - Missense

c.1072C>T; p.L358L; 13:50013012-50013012

 skinmalignant_melanomaSubstitution - coding silent

c.987C>T; p.V329V; 13:50012927-50012927

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.22C>T; p.L8F; 13:50011962-50011962

 breastcarcinomaSubstitution - Missense

c.118G>A; p.G40R; 13:50012058-50012058

 skinmalignant_melanomaSubstitution - Missense

c.1040G>A; p.W347*; 13:50012980-50012980

 breastcarcinomaSubstitution - Nonsense

c.583C>A; p.Q195K; 13:50012523-50012523

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.583C>A; p.Q195K; 13:50012523-50012523

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

')