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

Basic Information

Gene ID

55223

Name

TRIM62

Synonymous

tripartite motif containing 62;TRIM62;tripartite motif containing 62

Definition

E3 ubiquitin-protein ligase TRIM62|ductal epithelium-associated RING Chromosome 1|tripartite motif-containing 62|tripartite motif-containing protein 62

Position

1p35.1

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 0.05.

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.573A>T; p.E191D; 1:33159876-33159876

 pancreascarcinomaSubstitution - Missense

c.1048G>A; p.V350I; 1:33147557-33147557

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.194G>A; p.S65N; 1:33181239-33181239

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.606G>A; p.A202A; 1:33159843-33159843

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.575G>A; p.R192H; 1:33159874-33159874

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.874C>T; p.P292S; 1:33158256-33158256

 skinmalignant_melanomaSubstitution - Missense

c.575G>A; p.R192H; 1:33159874-33159874

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.244G>T; p.A82S; 1:33181189-33181189

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.919C>T; p.R307C; 1:33147686-33147686

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.668G>A; p.R223H; 1:33159781-33159781

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1148G>T; p.S383I; 1:33147457-33147457

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1148G>T; p.S383I; 1:33147457-33147457

 large_intestine; coloncarcinomaSubstitution - Missense

c.1148G>T; p.S383I; 1:33147457-33147457

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.412G>A; p.E138K; 1:33165563-33165563

 skinmalignant_melanomaSubstitution - Missense

c.551G>A; p.R184Q; 1:33159898-33159898

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.150C>T; p.C50C; 1:33181283-33181283

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1114G>A; p.A372T; 1:33147491-33147491

 livercarcinomaSubstitution - Missense

c.1114G>A; p.A372T; 1:33147491-33147491

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1217G>A; p.R406Q; 1:33147388-33147388

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1401G>A; p.P467P; 1:33147204-33147204

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.775delA; p.I259fs*39; 1:33158355-33158355

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.468G>T; p.A156A; 1:33165507-33165507

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.388G>T; p.D130Y; 1:33181045-33181045

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1378G>A; p.A460T; 1:33147227-33147227

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1422C>T; p.R474R; 1:33147183-33147183

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.571G>A; p.E191K; 1:33159878-33159878

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1315T>C; p.Y439H; 1:33147290-33147290

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1262A>G; p.D421G; 1:33147343-33147343

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.118G>A; p.V40M; 1:33181315-33181315

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1324C>T; p.R442C; 1:33147281-33147281

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.667C>T; p.R223C; 1:33159782-33159782

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.537C>T; p.G179G; 1:33159912-33159912

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.538G>A; p.E180K; 1:33159911-33159911

 skinmalignant_melanomaSubstitution - Missense

c.1325G>A; p.R442H; 1:33147280-33147280

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.920G>A; p.R307H; 1:33147685-33147685

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1336C>T; p.P446S; 1:33147269-33147269

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1245G>T; p.K415N; 1:33147360-33147360

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.51C>G; p.I17M; 1:33181382-33181382

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.735G>A; p.L245L; 1:33159714-33159714

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.469C>T; p.L157L; 1:33165506-33165506

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.997C>T; p.R333C; 1:33147608-33147608

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.957C>T; p.Y319Y; 1:33147648-33147648

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.500C>T; p.T167I; 1:33165475-33165475

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.328C>G; p.L110V; 1:33181105-33181105

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.705G>A; p.R235R; 1:33159744-33159744

 skinmalignant_melanomaSubstitution - coding silent

c.676C>T; p.Q226*; 1:33159773-33159773

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1155C>T; p.G385G; 1:33147450-33147450

 skinmalignant_melanomaSubstitution - coding silent

c.1108G>A; p.E370K; 1:33147497-33147497

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.987C>A; p.D329E; 1:33147618-33147618

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1195G>A; p.A399T; 1:33147410-33147410

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.183G>A; p.A61A; 1:33181250-33181250

 livercarcinomaSubstitution - coding silent

c.183G>A; p.A61A; 1:33181250-33181250

 livercarcinomaSubstitution - coding silent

c.1247delT; p.V416fs*>60; 1:33147358-33147358

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.1115C>A; p.A372E; 1:33147490-33147490

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1115C>A; p.A372E; 1:33147490-33147490

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1073C>T; p.A358V; 1:33147532-33147532

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1115C>A; p.A372E; 1:33147490-33147490

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1115C>A; p.A372E; 1:33147490-33147490

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1115C>A; p.A372E; 1:33147490-33147490

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1115C>A; p.A372E; 1:33147490-33147490

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.877G>T; p.V293L; 1:33158253-33158253

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1115C>A; p.A372E; 1:33147490-33147490

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1115C>A; p.A372E; 1:33147490-33147490

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1115C>A; p.A372E; 1:33147490-33147490

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1115C>A; p.A372E; 1:33147490-33147490

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1115C>A; p.A372E; 1:33147490-33147490

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.653A>G; p.Y218C; 1:33159796-33159796

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.248T>C; p.I83T; 1:33181185-33181185

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.932C>T; p.S311L; 1:33147673-33147673

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.828C>T; p.G276G; 1:33158302-33158302

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.828C>T; p.G276G; 1:33158302-33158302

 skinmalignant_melanomaSubstitution - coding silent

c.753G>C; p.L251L; 1:33159696-33159696

 skinmalignant_melanomaSubstitution - coding silent

c.252C>G; p.L84L; 1:33181181-33181181

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1177G>A; p.D393N; 1:33147428-33147428

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.84T>C; p.H28H; 1:33181349-33181349

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.84T>C; p.H28H; 1:33181349-33181349

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.84T>C; p.H28H; 1:33181349-33181349

 thyroidother; neoplasmSubstitution - coding silent

c.84T>C; p.H28H; 1:33181349-33181349

 thyroidother; neoplasmSubstitution - coding silent

c.1421G>A; p.R474H; 1:33147184-33147184

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1203G>A; p.T401T; 1:33147402-33147402

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1203G>A; p.T401T; 1:33147402-33147402

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1203G>A; p.T401T; 1:33147402-33147402

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.495G>A; p.A165A; 1:33165480-33165480

 pancreascarcinomaSubstitution - coding silent

c.495G>A; p.A165A; 1:33165480-33165480

 pancreascarcinomaSubstitution - coding silent

c.1030G>T; p.E344*; 1:33147575-33147575

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.569G>A; p.R190H; 1:33159880-33159880

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1016C>T; p.S339L; 1:33147589-33147589

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.280C>A; p.Q94K; 1:33181153-33181153

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.280C>A; p.Q94K; 1:33181153-33181153

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.959G>T; p.G320V; 1:33147646-33147646

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.504+3G>T; p.?; 1:33165468-33165468

 livercarcinoma; hepatocellular_carcinomaUnknown

c.939C>A; p.D313E; 1:33147666-33147666

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

')