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

Basic Information

Gene ID

134111

Name

UBE2QL1

Synonymous

ubiquitin-conjugating enzyme E2Q family-like 1;UBE2QL1;ubiquitin-conjugating enzyme E2Q family-like 1

Definition

ubiquitin-conjugating enzyme E2Q-like protein 1

Position

5p15.31

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

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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 0.00.

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.385A>G; p.K129E; 5:6491248-6491248

ovaryother; neoplasmSubstitution - Missense

c.278C>T; p.T93M; 5:6449171-6449171

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.278C>T; p.T93M; 5:6449171-6449171

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.440C>T; p.T147M; 5:6491303-6491303

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.440C>T; p.T147M; 5:6491303-6491303

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.433G>A; p.V145M; 5:6491296-6491296

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.285C>T; p.R95R; 5:6449178-6449178

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.147C>A; p.T49T; 5:6449040-6449040

kidneyother; neoplasmSubstitution - coding silent

c.281C>A; p.P94Q; 5:6449174-6449174

central_nervous_system; brainglioma; astrocytoma_Grade_IISubstitution - Missense

c.40T>A; p.F14I; 5:6448933-6448933

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.368G>A; p.R123K; 5:6491231-6491231

breastcarcinomaSubstitution - Missense

c.225C>A; p.R75R; 5:6449118-6449118

kidneyother; neoplasmSubstitution - coding silent

c.252C>A; p.G84G; 5:6449145-6449145

kidneyother; neoplasmSubstitution - coding silent

c.362T>C; p.I121T; 5:6491225-6491225

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.253G>A; p.G85S; 5:6449146-6449146

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.458G>A; p.W153*; 5:6491321-6491321

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.418A>G; p.T140A; 5:6491281-6491281

pancreascarcinomaSubstitution - Missense

c.418A>G; p.T140A; 5:6491281-6491281

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.418A>G; p.T140A; 5:6491281-6491281

pancreascarcinomaSubstitution - Missense

c.400C>T; p.R134C; 5:6491263-6491263

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.400C>T; p.R134C; 5:6491263-6491263

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.400C>T; p.R134C; 5:6491263-6491263

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.180C>T; p.D60D; 5:6449073-6449073

kidneyother; neoplasmSubstitution - coding silent

c.42C>T; p.F14F; 5:6448935-6448935

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.42C>T; p.F14F; 5:6448935-6448935

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.480C>T; p.D160D; 5:6491343-6491343

breastcarcinomaSubstitution - coding silent

c.484T>C; p.*162R; 5:6491347-6491347

livercarcinoma; hepatocellular_carcinomaNonstop extension

c.400C>A; p.R134S; 5:6491263-6491263

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.484T>C; p.*162R; 5:6491347-6491347

livercarcinomaNonstop extension

c.75C>T; p.F25F; 5:6448968-6448968

breastcarcinomaSubstitution - coding silent

c.22G>A; p.A8T; 5:6448915-6448915

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense


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