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

Basic Information

Gene ID

54984

Name

PINX1

Synonymous

PIN2/TERF1 interacting, telomerase inhibitor 1;PINX1;PIN2/TERF1 interacting, telomerase inhibitor 1

Definition

67-11-3 protein|PIN2 interacting protein 1|PIN2-interacting protein 1|PIN2/TERF1-interacting telomerase inhibitor 1|TRF1-interacting protein 1|hepatocellular carcinoma-related putative tumor suppressor|liver-related putative tumor suppressor|pin2-interact

Position

8p23

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 0.06.

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.615G>A; p.T205T; 8:10765773-10765773

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.23G>A; p.R8Q; 8:10834772-10834772

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.554G>T; p.R185L; 8:10765834-10765834

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.156C>A; p.A52A; 8:10832958-10832958

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.934G>A; p.A312T; 8:10765454-10765454

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.934G>A; p.A312T; 8:10765454-10765454

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.24G>A; p.R8R; 8:10834771-10834771

 skinmalignant_melanomaSubstitution - coding silent

c.24G>A; p.R8R; 8:10834771-10834771

 skinmalignant_melanomaSubstitution - coding silent

c.505G>A; p.E169K; 8:10765883-10765883

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.648T>A; p.N216K; 8:10765740-10765740

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.435C>T; p.C145C; 8:10820229-10820229

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.22C>T; p.R8W; 8:10834773-10834773

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.849G>A; p.P283P; 8:10765539-10765539

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.22C>T; p.R8W; 8:10834773-10834773

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.772G>T; p.E258*; 8:10765616-10765616

 ovaryother; neoplasmSubstitution - Nonsense

c.551A>C; p.K184T; 8:10765837-10765837

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.493C>T; p.P165S; 8:10765895-10765895

 skin; trunkmalignant_melanomaSubstitution - Missense

c.12G>T; p.L4L; 8:10839745-10839745

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.26G>A; p.R9Q; 8:10834769-10834769

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.737A>T; p.Q246L; 8:10765651-10765651

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.94C>T; p.R32W; 8:10834701-10834701

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.625C>T; p.R209C; 8:10765763-10765763

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.202G>A; p.G68R; 8:10832912-10832912

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.871C>T; p.L291L; 8:10765517-10765517

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.324G>T; p.K108N; 8:10826222-10826222

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.324G>T; p.K108N; 8:10826222-10826222

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.324G>T; p.K108N; 8:10826222-10826222

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.523G>A; p.A175T; 8:10765865-10765865

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.523G>A; p.A175T; 8:10765865-10765865

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.633G>T; p.R211S; 8:10765755-10765755

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.633G>T; p.R211S; 8:10765755-10765755

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.633G>T; p.R211S; 8:10765755-10765755

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.833G>T; p.G278V; 8:10765555-10765555

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.631A>G; p.R211G; 8:10765757-10765757

 ovaryother; neoplasmSubstitution - Missense

c.631A>G; p.R211G; 8:10765757-10765757

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.601G>A; p.D201N; 8:10765787-10765787

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.762C>T; p.S254S; 8:10765626-10765626

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.513G>A; p.T171T; 8:10765875-10765875

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.559G>A; p.A187T; 8:10765829-10765829

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.395-1G>T; p.?; 8:10820270-10820270

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaUnknown

c.351C>T; p.S117S; 8:10826195-10826195

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.111G>T; p.M37I; 8:10834684-10834684

 skinmalignant_melanomaSubstitution - Missense

c.334A>G; p.S112G; 8:10826212-10826212

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.37T>G; p.W13G; 8:10834758-10834758

 breastcarcinomaSubstitution - Missense

c.178G>T; p.V60L; 8:10832936-10832936

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.23G>T; p.R8L; 8:10834772-10834772

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.475G>A; p.D159N; 8:10765913-10765913

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.475G>A; p.D159N; 8:10765913-10765913

 breastcarcinomaSubstitution - Missense

c.475G>A; p.D159N; 8:10765913-10765913

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.879C>A; p.P293P; 8:10765509-10765509

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.483T>G; p.S161R; 8:10765905-10765905

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.558G>T; p.M186I; 8:10765830-10765830

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.474C>T; p.G158G; 8:10765914-10765914

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.359C>T; p.S120F; 8:10826187-10826187

 skinmalignant_melanomaSubstitution - Missense

c.282C>T; p.C94C; 8:10831684-10831684

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.614C>T; p.T205M; 8:10765774-10765774

 ovaryother; neoplasmSubstitution - Missense

c.614C>T; p.T205M; 8:10765774-10765774

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.485C>T; p.P162L; 8:10765903-10765903

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.857G>A; p.G286D; 8:10765531-10765531

 breastcarcinomaSubstitution - Missense

c.468C>T; p.P156P; 8:10820196-10820196

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.916G>T; p.V306L; 8:10765472-10765472

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.765G>A; p.A255A; 8:10765623-10765623

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.908_912delAAAAA; p.Q303fs*>25; 8:10765476-10765480

 kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.72T>C; p.N24N; 8:10834723-10834723

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.137G>T; p.G46V; 8:10832977-10832977

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.136G>T; p.G46W; 8:10832978-10832978

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.22C>A; p.R8R; 8:10834773-10834773

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.61G>A; p.A21T; 8:10834734-10834734

 soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Missense

c.644G>A; p.R215K; 8:10765744-10765744

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.329C>A; p.S110Y; 8:10826217-10826217

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.196G>T; p.G66*; 8:10832918-10832918

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

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