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

Basic Information

Gene ID

90480

Name

GADD45GIP1

Synonymous

growth arrest and DNA-damage-inducible, gamma interacting protein 1;GADD45GIP1;growth arrest and DNA-damage-inducible, gamma interacting protein 1

Definition

39S ribosomal protein L59, mitochondrial|CKII beta binding protein 2|CKII beta-associating protein|CR6 interacting factor 1|growth arrest and DNA damage-inducible proteins-interacting protein 1|growth arrest- and DNA damage-inducible GADD45G-interacting p

Position

19p13.2

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 0.36.

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.350+2T>G; p.?; 19:12956861-12956861

 urinary_tract; bladdercarcinomaUnknown

c.603G>A; p.A201A; 19:12954274-12954274

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.585_586delGA; p.K196fs*>27; 19:12954291-12954292

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.235C>G; p.P79A; 19:12956978-12956978

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.463C>G; p.R155G; 19:12954414-12954414

 prostatecarcinomaSubstitution - Missense

c.477G>A; p.E159E; 19:12954400-12954400

 ovaryother; neoplasmSubstitution - coding silent

c.305C>A; p.S102*; 19:12956908-12956908

 soft_tissue; blood_vesselangiosarcomaSubstitution - Nonsense

c.623_624delCA; p.A208fs*>15; 19:12954253-12954254

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.521G>A; p.R174H; 19:12954356-12954356

 central_nervous_system; braingliomaSubstitution - Missense

c.521G>A; p.R174H; 19:12954356-12954356

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.352G>A; p.E118K; 19:12954525-12954525

 skinmalignant_melanomaSubstitution - Missense

c.600G>A; p.E200E; 19:12954277-12954277

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.173C>A; p.A58D; 19:12957040-12957040

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.489C>A; p.L163L; 19:12954388-12954388

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.323T>C; p.L108P; 19:12956890-12956890

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.323T>C; p.L108P; 19:12956890-12956890

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.406C>T; p.Q136*; 19:12954471-12954471

 breastcarcinomaSubstitution - Nonsense

c.365C>A; p.A122E; 19:12954512-12954512

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.489C>G; p.L163L; 19:12954388-12954388

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.463C>T; p.R155*; 19:12954414-12954414

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.183C>T; p.F61F; 19:12957030-12957030

 skin; armmalignant_melanomaSubstitution - coding silent

c.553_555delAAG; p.K185delK; 19:12954322-12954324

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.328G>A; p.E110K; 19:12956885-12956885

 breastcarcinomaSubstitution - Missense

c.488T>C; p.L163P; 19:12954389-12954389

 large_intestine; rectumNSSubstitution - Missense

c.488T>C; p.L163P; 19:12954389-12954389

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.662G>A; p.S221N; 19:12954215-12954215

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.470A>C; p.Q157P; 19:12954407-12954407

 thyroidother; neoplasmSubstitution - Missense

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