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

Basic Information

Gene ID

10253

Name

SPRY2

Synonymous

sprouty homolog 2 (Drosophila);SPRY2;sprouty homolog 2 (Drosophila)

Definition

protein sprouty homolog 2|sprouty 2|spry-2

Position

13q31.1

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

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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 0.12.

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.648G>C; p.G216G; 13:80337058-80337058

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.887C>T; p.S296L; 13:80336819-80336819

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.887C>T; p.S296L; 13:80336819-80336819

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.184G>A; p.V62I; 13:80337522-80337522

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.184G>A; p.V62I; 13:80337522-80337522

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.451C>T; p.R151W; 13:80337255-80337255

 skinmalignant_melanomaSubstitution - Missense

c.32C>T; p.S11L; 13:80337674-80337674

 skinmalignant_melanomaSubstitution - Missense

c.226C>T; p.Q76*; 13:80337480-80337480

 lungcarcinoma; small_cell_carcinomaSubstitution - Nonsense

c.251G>A; p.G84D; 13:80337455-80337455

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.17A>G; p.Q6R; 13:80337689-80337689

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.684C>T; p.H228H; 13:80337022-80337022

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.732C>G; p.C244W; 13:80336974-80336974

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.572A>T; p.Y191F; 13:80337134-80337134

 lung; middle_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.250G>A; p.G84S; 13:80337456-80337456

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.641A>G; p.D214G; 13:80337065-80337065

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.23G>A; p.G8D; 13:80337683-80337683

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.422C>T; p.S141F; 13:80337284-80337284

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.901T>G; p.C301G; 13:80336805-80336805

 pancreascarcinomaSubstitution - Missense

c.893_894delCA; p.T298fs*11; 13:80336812-80336813

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.638T>C; p.I213T; 13:80337068-80337068

 prostatecarcinomaSubstitution - Missense

c.287A>C; p.H96P; 13:80337419-80337419

 thyroidother; neoplasmSubstitution - Missense

c.493C>T; p.P165S; 13:80337213-80337213

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.522C>T; p.H174H; 13:80337184-80337184

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.522C>T; p.H174H; 13:80337184-80337184

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.522C>T; p.H174H; 13:80337184-80337184

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.742C>T; p.H248Y; 13:80336964-80336964

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.742C>T; p.H248Y; 13:80336964-80336964

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.430C>T; p.P144S; 13:80337276-80337276

 skinmalignant_melanomaSubstitution - Missense

c.356G>A; p.R119Q; 13:80337350-80337350

 breastcarcinomaSubstitution - Missense

c.148C>T; p.R50*; 13:80337558-80337558

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.148C>T; p.R50*; 13:80337558-80337558

 central_nervous_system; braingliomaSubstitution - Nonsense

c.186C>T; p.V62V; 13:80337520-80337520

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.316C>T; p.P106S; 13:80337390-80337390

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.316C>T; p.P106S; 13:80337390-80337390

 thyroidother; neoplasmSubstitution - Missense

c.316C>T; p.P106S; 13:80337390-80337390

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.873C>T; p.C291C; 13:80336833-80336833

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.314C>T; p.A105V; 13:80337392-80337392

 skinmalignant_melanomaSubstitution - Missense

c.398A>G; p.Q133R; 13:80337308-80337308

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.540C>T; p.D180D; 13:80337166-80337166

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.310C>G; p.R104G; 13:80337396-80337396

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.310C>G; p.R104G; 13:80337396-80337396

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.127C>T; p.L43L; 13:80337579-80337579

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.310C>G; p.R104G; 13:80337396-80337396

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.626C>G; p.A209G; 13:80337080-80337080

 livercarcinomaSubstitution - Missense

c.488T>C; p.L163P; 13:80337218-80337218

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.170A>G; p.E57G; 13:80337536-80337536

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.788delT; p.L263fs*>53; 13:80336918-80336918

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.788delT; p.L263fs*>53; 13:80336918-80336918

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.185T>C; p.V62A; 13:80337521-80337521

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.185T>C; p.V62A; 13:80337521-80337521

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.514G>T; p.G172C; 13:80337192-80337192

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.746G>A; p.C249Y; 13:80336960-80336960

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.732C>T; p.C244C; 13:80336974-80336974

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.738G>T; p.Q246H; 13:80336968-80336968

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.143C>G; p.A48G; 13:80337563-80337563

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.191G>T; p.R64I; 13:80337515-80337515

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.831A>G; p.K277K; 13:80336875-80336875

 livercarcinomaSubstitution - coding silent

c.578G>T; p.R193M; 13:80337128-80337128

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.874C>T; p.R292C; 13:80336832-80336832

 breastcarcinomaSubstitution - Missense

c.652T>C; p.C218R; 13:80337054-80337054

 lungcarcinoma; undifferentiated_carcinomaSubstitution - Missense

c.603C>T; p.C201C; 13:80337103-80337103

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

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