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

Basic Information

Gene ID

57410

Name

SCYL1

Synonymous

SCY1-like 1 (S. cerevisiae);SCYL1;SCY1-like 1 (S. cerevisiae)

Definition

N-terminal kinase-like protein|SCY1-like protein 1|coated vesicle-associated kinase of 90 kDa|likely ortholog of mouse N-terminal kinase-like protein|telomerase regulation-associated protein|telomerase transcriptional element-interacting factor|telomerase

Position

11q13

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 0.14.

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.544G>T; p.E182*; 11:65526292-65526292

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.180G>A; p.V60V; 11:65525642-65525642

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1230+9G>T; p.?; 11:65532814-65532814

 oesophaguscarcinoma; adenocarcinomaUnknown

c.838G>T; p.E280*; 11:65527106-65527106

 breastcarcinomaSubstitution - Nonsense

c.1164G>A; p.Q388Q; 11:65532739-65532739

 livercarcinomaSubstitution - coding silent

c.849+10C>A; p.?; 11:65527127-65527127

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.864C>T; p.A288A; 11:65530643-65530643

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.396C>G; p.V132V; 11:65526144-65526144

 breastcarcinomaSubstitution - coding silent

c.2397C>T; p.P799P; 11:65538536-65538536

 skinmalignant_melanomaSubstitution - coding silent

c.2200G>A; p.D734N; 11:65538135-65538135

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.754C>T; p.P252S; 11:65527022-65527022

 skinmalignant_melanomaSubstitution - Missense

c.913C>T; p.P305S; 11:65530692-65530692

 skinmalignant_melanomaSubstitution - Missense

c.1867G>C; p.G623R; 11:65537036-65537036

 skinmalignant_melanomaSubstitution - Missense

c.801C>T; p.F267F; 11:65527069-65527069

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.555delC; p.P187fs*82; 11:65526303-65526303

 oesophagus; lower_thirdcarcinoma; adenocarcinomaDeletion - Frameshift

c.849+2T>C; p.?; 11:65527119-65527119

 stomachcarcinoma; adenocarcinomaUnknown

c.1624G>C; p.E542Q; 11:65536307-65536307

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2250G>A; p.P750P; 11:65538272-65538272

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2151C>T; p.D717D; 11:65538086-65538086

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2151C>T; p.D717D; 11:65538086-65538086

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1959+1_1959+2delGT; p.?; 11:65537129-65537130

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1953C>T; p.S651S; 11:65537122-65537122

 livercarcinomaSubstitution - coding silent

c.1959+2T>G; p.?; 11:65537130-65537130

 ovaryother; neoplasmUnknown

c.1953C>T; p.S651S; 11:65537122-65537122

 livercarcinomaSubstitution - coding silent

c.288G>T; p.V96V; 11:65525956-65525956

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2412C>T; p.A804A; 11:65538551-65538551

 skinmalignant_melanomaSubstitution - coding silent

c.928C>T; p.R310W; 11:65530707-65530707

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.294G>A; p.P98P; 11:65525962-65525962

 kidneyother; neoplasmSubstitution - coding silent

c.1483C>T; p.H495Y; 11:65536049-65536049

 skinmalignant_melanomaSubstitution - Missense

c.1483C>T; p.H495Y; 11:65536049-65536049

 skinmalignant_melanomaSubstitution - Missense

c.1483C>T; p.H495Y; 11:65536049-65536049

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1483C>T; p.H495Y; 11:65536049-65536049

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1187G>T; p.G396V; 11:65532762-65532762

 pancreascarcinomaSubstitution - Missense

c.442T>C; p.F148L; 11:65526190-65526190

 skinmalignant_melanomaSubstitution - Missense

c.1301_1302insAG; p.L435fs*67; 11:65535297-65535298

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaInsertion - Frameshift

c.1001T>A; p.L334H; 11:65530780-65530780

 livercarcinomaSubstitution - Missense

c.2029C>T; p.Q677*; 11:65537878-65537878

 breastcarcinomaSubstitution - Nonsense

c.1752G>C; p.L584L; 11:65536686-65536686

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2172G>C; p.E724D; 11:65538107-65538107

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.348G>C; p.E116D; 11:65526016-65526016

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1450C>T; p.R484W; 11:65536016-65536016

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1450C>T; p.R484W; 11:65536016-65536016

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2353_2354delGA; p.E785fs*>24; 11:65538492-65538493

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.372C>T; p.I124I; 11:65526040-65526040

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.697C>T; p.P233S; 11:65526965-65526965

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1464C>T; p.V488V; 11:65536030-65536030

 oesophaguscarcinomaSubstitution - coding silent

c.379G>T; p.A127S; 11:65526127-65526127

 breastcarcinomaSubstitution - Missense

c.1180G>A; p.V394I; 11:65532755-65532755

 livercarcinomaSubstitution - Missense

c.1180G>A; p.V394I; 11:65532755-65532755

 livercarcinomaSubstitution - Missense

c.1939G>A; p.E647K; 11:65537108-65537108

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.523C>T; p.R175C; 11:65526271-65526271

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.679C>T; p.R227C; 11:65526859-65526859

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1562C>G; p.S521C; 11:65536128-65536128

 kidneyother; neoplasmSubstitution - Missense

c.2353G>A; p.E785K; 11:65538492-65538492

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.696C>T; p.I232I; 11:65526964-65526964

 skinmalignant_melanomaSubstitution - coding silent

c.936G>C; p.K312N; 11:65530715-65530715

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1536C>T; p.C512C; 11:65536102-65536102

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.670G>A; p.A224T; 11:65526850-65526850

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1696G>A; p.A566T; 11:65536630-65536630

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1446G>A; p.P482P; 11:65536012-65536012

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.875A>C; p.K292T; 11:65530654-65530654

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.850-6C>T; p.?; 11:65530623-65530623

 livercarcinomaUnknown

c.850-6C>T; p.?; 11:65530623-65530623

 livercarcinomaUnknown

c.11T>C; p.F4S; 11:65525164-65525164

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.105delC; p.K36fs*15; 11:65525258-65525258

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2335C>T; p.R779C; 11:65538474-65538474

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1757G>T; p.R586L; 11:65536691-65536691

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.985G>A; p.V329I; 11:65530764-65530764

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1076C>T; p.S359L; 11:65531643-65531643

 pancreascarcinomaSubstitution - Missense

c.53C>A; p.P18Q; 11:65525206-65525206

 ovaryother; neoplasmSubstitution - Missense

c.1485C>G; p.H495Q; 11:65536051-65536051

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2217C>T; p.F739F; 11:65538152-65538152

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.496G>A; p.A166T; 11:65526244-65526244

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.879C>T; p.F293F; 11:65530658-65530658

 skinmalignant_melanomaSubstitution - coding silent

c.360G>C; p.G120G; 11:65526028-65526028

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2141C>T; p.P714L; 11:65538076-65538076

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2345G>C; p.R782P; 11:65538484-65538484

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2337C>T; p.R779R; 11:65538476-65538476

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2337C>T; p.R779R; 11:65538476-65538476

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.494C>T; p.S165L; 11:65526242-65526242

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.494C>T; p.S165L; 11:65526242-65526242

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.472delG; p.G159fs*110; 11:65526220-65526220

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1103G>A; p.R368H; 11:65531670-65531670

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1161C>T; p.T387T; 11:65532736-65532736

 thyroidother; neoplasmSubstitution - coding silent

c.507C>T; p.N169N; 11:65526255-65526255

 breastcarcinomaSubstitution - coding silent

c.1568G>A; p.R523Q; 11:65536134-65536134

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1783G>T; p.E595*; 11:65536717-65536717

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.996G>T; p.T332T; 11:65530775-65530775

 bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1719C>A; p.A573A; 11:65536653-65536653

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.712C>T; p.P238S; 11:65526980-65526980

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1393C>G; p.H465D; 11:65535959-65535959

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2375A>G; p.E792G; 11:65538514-65538514

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.812G>A; p.R271H; 11:65527080-65527080

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.812G>A; p.R271H; 11:65527080-65527080

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.812G>A; p.R271H; 11:65527080-65527080

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1512C>G; p.A504A; 11:65536078-65536078

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1457C>T; p.A486V; 11:65536023-65536023

 central_nervous_system; braingliomaSubstitution - Missense

c.1270C>A; p.L424I; 11:65535266-65535266

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.811C>T; p.R271C; 11:65527079-65527079

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1100T>C; p.I367T; 11:65531667-65531667

 breastcarcinomaSubstitution - Missense

c.1277T>C; p.V426A; 11:65535273-65535273

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

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