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

Basic Information

Gene ID

55164

Name

SHQ1

Synonymous

SHQ1, H/ACA ribonucleoprotein assembly factor;SHQ1;SHQ1, H/ACA ribonucleoprotein assembly factor

Definition

SHQ1 homolog|protein SHQ1 homolog

Position

3p13

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

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.10.

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.1405G>A; p.E469K; 3:72750613-72750613

 skin; neckmalignant_melanomaSubstitution - Missense

c.1432G>A; p.D478N; 3:72750586-72750586

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.132A>G; p.P44P; 3:72848209-72848209

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.471G>T; p.V157V; 3:72841060-72841060

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.860G>A; p.R287H; 3:72817252-72817252

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.474G>A; p.L158L; 3:72841057-72841057

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1607G>T; p.G536V; 3:72750411-72750411

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.897G>A; p.W299*; 3:72815389-72815389

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.533C>G; p.P178R; 3:72832435-72832435

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.650C>T; p.P217L; 3:72824501-72824501

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1303G>A; p.A435T; 3:72750715-72750715

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.37G>C; p.D13H; 3:72848304-72848304

 thyroidcarcinomaSubstitution - Missense

c.696G>T; p.K232N; 3:72824455-72824455

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.760C>T; p.R254*; 3:72817352-72817352

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.535G>A; p.A179T; 3:72832433-72832433

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1397C>G; p.S466C; 3:72750621-72750621

 pancreascarcinomaSubstitution - Missense

c.1422T>A; p.D474E; 3:72750596-72750596

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.761G>A; p.R254Q; 3:72817351-72817351

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1028_1029CC>TT; p.A343V; 3:72812702-72812703

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.761G>A; p.R254Q; 3:72817351-72817351

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.166G>T; p.V56L; 3:72844401-72844401

 prostatecarcinomaSubstitution - Missense

c.1693A>G; p.N565D; 3:72750325-72750325

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1094T>G; p.I365S; 3:72793003-72793003

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1003C>T; p.R335C; 3:72812728-72812728

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.592C>A; p.H198N; 3:72832376-72832376

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.594T>C; p.H198H; 3:72832374-72832374

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.594T>C; p.H198H; 3:72832374-72832374

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1555G>A; p.D519N; 3:72750463-72750463

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1555G>A; p.D519N; 3:72750463-72750463

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1603T>C; p.S535P; 3:72750415-72750415

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.806G>A; p.R269H; 3:72817306-72817306

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.807T>C; p.R269R; 3:72817305-72817305

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.807T>C; p.R269R; 3:72817305-72817305

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.807T>C; p.R269R; 3:72817305-72817305

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.807T>C; p.R269R; 3:72817305-72817305

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.561G>T; p.L187L; 3:72832407-72832407

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.370G>T; p.E124*; 3:72841161-72841161

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.370G>T; p.E124*; 3:72841161-72841161

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.602C>T; p.A201V; 3:72824549-72824549

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.523G>T; p.D175Y; 3:72832445-72832445

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.209G>A; p.G70E; 3:72842402-72842402

 skinmalignant_melanomaSubstitution - Missense

c.655T>C; p.W219R; 3:72824496-72824496

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1094T>C; p.I365T; 3:72793003-72793003

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.340G>C; p.E114Q; 3:72841191-72841191

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1349C>T; p.S450F; 3:72750669-72750669

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.797G>C; p.R266T; 3:72817315-72817315

 NSNSSubstitution - Missense

c.908A>C; p.K303T; 3:72815378-72815378

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.332-2A>G; p.?; 3:72841201-72841201

 lungcarcinoma; adenocarcinomaUnknown

c.593A>G; p.H198R; 3:72832375-72832375

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1143C>G; p.L381L; 3:72792954-72792954

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.422C>A; p.A141D; 3:72841109-72841109

 pancreascarcinomaSubstitution - Missense

c.73C>T; p.R25W; 3:72848268-72848268

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.73C>T; p.R25W; 3:72848268-72848268

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1502C>T; p.A501V; 3:72750516-72750516

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.261G>T; p.G87G; 3:72842350-72842350

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1583C>A; p.S528Y; 3:72750435-72750435

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1516G>A; p.D506N; 3:72750502-72750502

 breastcarcinomaSubstitution - Missense

c.649_650CC>TT; p.P217F; 3:72824501-72824502

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.206A>C; p.K69T; 3:72844361-72844361

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.325G>T; p.E109*; 3:72842286-72842286

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.679A>G; p.M227V; 3:72824472-72824472

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1710_1711insGA; p.G571fs*>8; 3:72750307-72750308

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.565G>A; p.A189T; 3:72832403-72832403

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.442T>A; p.Y148N; 3:72841089-72841089

 ovaryother; neoplasmSubstitution - Missense

c.1408G>C; p.D470H; 3:72750610-72750610

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.999C>T; p.L333L; 3:72812732-72812732

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.805C>A; p.R269S; 3:72817307-72817307

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.245G>A; p.G82D; 3:72842366-72842366

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.805C>A; p.R269S; 3:72817307-72817307

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1093A>G; p.I365V; 3:72793004-72793004

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.18C>T; p.F6F; 3:72848323-72848323

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.18C>T; p.F6F; 3:72848323-72848323

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1614G>T; p.L538L; 3:72750404-72750404

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.18C>T; p.F6F; 3:72848323-72848323

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.34C>T; p.P12S; 3:72848307-72848307

 skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - Missense

c.1467T>G; p.S489R; 3:72750551-72750551

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.100G>A; p.E34K; 3:72848241-72848241

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.280C>G; p.L94V; 3:72842331-72842331

 breastcarcinomaSubstitution - Missense

c.757C>T; p.L253L; 3:72817355-72817355

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.805C>G; p.R269G; 3:72817307-72817307

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - Missense

c.805C>G; p.R269G; 3:72817307-72817307

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.6G>C; p.L2L; 3:72848335-72848335

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1482C>T; p.P494P; 3:72750536-72750536

 skinmalignant_melanomaSubstitution - coding silent

c.194A>G; p.Y65C; 3:72844373-72844373

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1120C>T; p.P374S; 3:72792977-72792977

 skinmalignant_melanomaSubstitution - Missense

c.755A>T; p.Q252L; 3:72817357-72817357

 skinmalignant_melanomaSubstitution - Missense

c.1004G>A; p.R335H; 3:72812727-72812727

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.239C>T; p.T80I; 3:72842372-72842372

 skinmalignant_melanomaSubstitution - Missense

c.729G>T; p.V243V; 3:72817383-72817383

 breastcarcinomaSubstitution - coding silent

c.746_750delAGAAG; p.E249fs*9; 3:72817362-72817366

 skin; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.1364G>A; p.S455N; 3:72750654-72750654

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1717C>G; p.Q573E; 3:72750301-72750301

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.399C>G; p.P133P; 3:72841132-72841132

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.399C>G; p.P133P; 3:72841132-72841132

 thyroidcarcinomaSubstitution - coding silent

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