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

Basic Information

Gene ID

51684

Name

SUFU

Synonymous

suppressor of fused homolog (Drosophila);SUFU;suppressor of fused homolog (Drosophila)

Definition

suppressor of fused homolog

Position

10q24.32

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

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.23.

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.1396G>A; p.E466K; 10:102630096-102630096

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.984C>A; p.N328K; 10:102599506-102599506

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.984C>A; p.N328K; 10:102599506-102599506

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1091G>A; p.R364Q; 10:102615336-102615336

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.742G>A; p.D248N; 10:102594051-102594051

urinary_tract; bladdercarcinomaSubstitution - Missense

c.317+2T>C; p.?; 10:102509305-102509305

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.96G>T; p.P32P; 10:102504248-102504248

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1368C>G; p.F456L; 10:102630068-102630068

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.591C>T; p.F197F; 10:102592718-102592718

skin; facecarcinoma; basal_cell_carcinomaSubstitution - coding silent

c.1129_1135delTCCGGAG; p.S377fs*7; 10:102615374-102615380

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; desmoplasticDeletion - Frameshift

c.1088C>T; p.T363M; 10:102615333-102615333

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.433G>A; p.A145T; 10:102550085-102550085

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.598-1G>C; p.?; 10:102593635-102593635

lungcarcinoma; squamous_cell_carcinomaUnknown

c.1157+1G>A; p.?; 10:102615403-102615403

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaUnknown

c.1136C>T; p.A379V; 10:102615381-102615381

skinmalignant_melanomaSubstitution - Missense

c.436C>T; p.R146*; 10:102550088-102550088

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.741C>T; p.I247I; 10:102594050-102594050

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1069C>T; p.P357S; 10:102615314-102615314

skinmalignant_melanomaSubstitution - Missense

c.1366-1G>A; p.?; 10:102630065-102630065

stomachcarcinoma; adenocarcinomaUnknown

c.1309G>A; p.E437K; 10:102627187-102627187

breastcarcinomaSubstitution - Missense

c.94C>T; p.P32S; 10:102504246-102504246

skinmalignant_melanomaSubstitution - Missense

c.315T>C; p.H105H; 10:102509301-102509301

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.423G>A; p.M141I; 10:102550075-102550075

kidneyother; neoplasmSubstitution - Missense

c.442_448delGTGTTCC; p.V148fs*30; 10:102550094-102550100

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaDeletion - Frameshift

c.442_448delGTGTTCC; p.V148fs*30; 10:102550094-102550100

central_nervous_system; cerebellumprimitive_neuroectodermal_tumour-medulloblastoma; SHH_subtypeDeletion - Frameshift

c.1123C>T; p.Q375*; 10:102615368-102615368

bone; pelvischondrosarcomaSubstitution - Nonsense

c.395C>G; p.A132G; 10:102550047-102550047

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.279C>T; p.F93F; 10:102509265-102509265

skinmalignant_melanomaSubstitution - coding silent

c.1105G>A; p.V369I; 10:102615350-102615350

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1085G>A; p.R362H; 10:102615330-102615330

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1085G>A; p.R362H; 10:102615330-102615330

skinmalignant_melanomaSubstitution - Missense

c.1445C>T; p.P482L; 10:102630145-102630145

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.541G>C; p.E181Q; 10:102592668-102592668

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.541G>C; p.E181Q; 10:102592668-102592668

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.635A>G; p.Q212R; 10:102593673-102593673

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.635A>G; p.Q212R; 10:102593673-102593673

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.442G>A; p.V148M; 10:102550094-102550094

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.123C>T; p.C41C; 10:102504275-102504275

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1158-3C>T; p.?; 10:102617287-102617287

skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1004T>G; p.L335R; 10:102599526-102599526

pancreascarcinomaSubstitution - Missense

c.1299T>C; p.I433I; 10:102627177-102627177

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.671G>A; p.R224Q; 10:102593709-102593709

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.64_65insC; p.A25fs*23; 10:102504216-102504217

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.778_779insAGGGA; p.T261fs*8; 10:102597161-102597162

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastomaInsertion - Frameshift

c.778_779insAGGGA; p.T261fs*8; 10:102597161-102597162

central_nervous_system; cerebellumprimitive_neuroectodermal_tumour-medulloblastoma; SHH_subtypeInsertion - Frameshift

c.756+1G>T; p.?; 10:102594066-102594066

central_nervous_system; braingliomaUnknown

c.1177C>T; p.R393W; 10:102617309-102617309

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.881_882insG; p.T295fs*56; 10:102597264-102597265

salivary_gland; maxillacarcinoma; adenoid_cystic_carcinomaInsertion - Frameshift

c.1437C>T; p.F479F; 10:102630137-102630137

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.561C>A; p.P187P; 10:102592688-102592688

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.170T>A; p.I57N; 10:102504322-102504322

oesophaguscarcinomaSubstitution - Missense

c.367C>T; p.R123C; 10:102550019-102550019

skinmalignant_melanomaSubstitution - Missense

c.560C>T; p.P187L; 10:102592687-102592687

skin; facecarcinoma; basal_cell_carcinomaSubstitution - Missense

c.1241A>G; p.E414G; 10:102617373-102617373

prostatecarcinomaSubstitution - Missense

c.600C>T; p.I200I; 10:102593638-102593638

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.850G>T; p.D284Y; 10:102597233-102597233

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.881G>A; p.G294D; 10:102597264-102597264

skinmalignant_melanomaSubstitution - Missense

c.897A>G; p.R299R; 10:102597280-102597280

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.881G>A; p.G294D; 10:102597264-102597264

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1023-2A>G; p.?; 10:102615266-102615266

urinary_tract; bladdercarcinomaUnknown

c.896G>A; p.R299Q; 10:102597279-102597279

breastcarcinoma; HER-positive_carcinomaSubstitution - Missense

c.217A>G; p.M73V; 10:102509203-102509203

pancreascarcinomaSubstitution - Missense

c.217A>G; p.M73V; 10:102509203-102509203

pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.1022+1G>A; p.?; 10:102599545-102599545

oesophaguscarcinomaUnknown

c.1022+1G>A; p.?; 10:102599545-102599545

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1022+1G>A; p.?; 10:102599545-102599545

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastoma; desmoplasticUnknown

c.1022+1G>A; p.?; 10:102599545-102599545

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.135C>T; p.Y45Y; 10:102504287-102504287

skinmalignant_melanomaSubstitution - coding silent

c.1429G>C; p.V477L; 10:102630129-102630129

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.220T>C; p.Y74H; 10:102509206-102509206

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.847G>A; p.E283K; 10:102597230-102597230

breastcarcinomaSubstitution - Missense

c.191G>T; p.G64V; 10:102509177-102509177

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.622C>A; p.L208I; 10:102593660-102593660

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1005C>T; p.L335L; 10:102599527-102599527

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.429C>T; p.G143G; 10:102550081-102550081

thyroidcarcinomaSubstitution - coding silent

c.1221G>A; p.T407T; 10:102617353-102617353

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1233G>T; p.T411T; 10:102617365-102617365

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.778G>A; p.E260K; 10:102597161-102597161

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.660G>A; p.L220L; 10:102593698-102593698

thyroidcarcinomaSubstitution - coding silent

c.486C>A; p.S162S; 10:102592613-102592613

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1232C>T; p.T411M; 10:102617364-102617364

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1232C>T; p.T411M; 10:102617364-102617364

pleuramesotheliomaSubstitution - Missense

c.1265A>G; p.H422R; 10:102617397-102617397

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.716G>A; p.R239Q; 10:102594025-102594025

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.221A>G; p.Y74C; 10:102509207-102509207

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1174G>T; p.G392*; 10:102617306-102617306

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1016G>C; p.R339P; 10:102599538-102599538

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.736G>C; p.E246Q; 10:102594045-102594045

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.736G>C; p.E246Q; 10:102594045-102594045

urinary_tract; bladdercarcinomaSubstitution - Missense

c.846C>T; p.P282P; 10:102597229-102597229

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1022C>T; p.P341L; 10:102599544-102599544

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1084C>T; p.R362C; 10:102615329-102615329

central_nervous_system; cerebellumprimitive_neuroectodermal_tumour-medulloblastoma; large_cellSubstitution - Missense

c.634C>T; p.Q212*; 10:102593672-102593672

thyroidcarcinomaSubstitution - Nonsense

c.63T>A; p.T21T; 10:102504215-102504215

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.305_306delAC; p.N102fs*4; 10:102509291-102509292

pleurapulmonary_blastomaDeletion - Frameshift


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