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

Basic Information

Gene ID

60561

Name

RINT1

Synonymous

RAD50 interactor 1;RINT1;RAD50 interactor 1

Definition

RAD50-interacting protein 1|hsRINT-1

Position

7q22.3

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 0.17.

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.984T>C; p.N328N; 7:105548698-105548698

 livercarcinomaSubstitution - coding silent

c.984T>C; p.N328N; 7:105548698-105548698

 livercarcinomaSubstitution - coding silent

c.2156A>G; p.Y719C; 7:105565618-105565618

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1471+10T>C; p.?; 7:105551717-105551717

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1675T>C; p.F559L; 7:105563736-105563736

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1022T>G; p.L341R; 7:105550080-105550080

 skinmalignant_melanomaSubstitution - Missense

c.1787T>G; p.I596S; 7:105563848-105563848

 skinmalignant_melanomaSubstitution - Missense

c.1504A>C; p.K502Q; 7:105555060-105555060

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.782C>T; p.P261L; 7:105547276-105547276

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.723G>A; p.W241*; 7:105547217-105547217

 central_nervous_system; braingliomaSubstitution - Nonsense

c.449G>T; p.S150I; 7:105542583-105542583

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.455T>C; p.I152T; 7:105542589-105542589

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.997-2A>G; p.?; 7:105550053-105550053

 urinary_tract; bladdercarcinomaUnknown

c.118A>T; p.S40C; 7:105536594-105536594

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1150T>G; p.L384V; 7:105550303-105550303

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.209C>A; p.S70Y; 7:105536685-105536685

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.666A>T; p.K222N; 7:105547060-105547060

 breastcarcinomaSubstitution - Missense

c.2314C>A; p.L772M; 7:105567246-105567246

 thyroidother; neoplasmSubstitution - Missense

c.555G>A; p.P185P; 7:105546949-105546949

 stomachadenocarcinomaSubstitution - coding silent

c.1882G>C; p.E628Q; 7:105563943-105563943

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1120C>T; p.R374W; 7:105550273-105550273

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2334G>C; p.E778D; 7:105567266-105567266

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDSSubstitution - Missense

c.1918G>A; p.A640T; 7:105565308-105565308

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.766C>T; p.R256*; 7:105547260-105547260

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.766C>T; p.R256*; 7:105547260-105547260

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.766C>T; p.R256*; 7:105547260-105547260

 skinmalignant_melanomaSubstitution - Nonsense

c.1950G>A; p.P650P; 7:105565340-105565340

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.769C>G; p.P257A; 7:105547263-105547263

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.769C>G; p.P257A; 7:105547263-105547263

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2345A>T; p.N782I; 7:105567277-105567277

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.712C>T; p.Q238*; 7:105547206-105547206

 endometriumcarcinoma; serous_carcinomaSubstitution - Nonsense

c.1520A>G; p.E507G; 7:105555076-105555076

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.48C>G; p.C16W; 7:105532829-105532829

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1908G>A; p.Q636Q; 7:105565298-105565298

 skinmalignant_melanomaSubstitution - coding silent

c.577T>C; p.S193P; 7:105546971-105546971

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.256A>C; p.M86L; 7:105536732-105536732

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.577T>C; p.S193P; 7:105546971-105546971

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1512G>A; p.Q504Q; 7:105555068-105555068

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.868C>T; p.L290F; 7:105548582-105548582

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.794G>C; p.S265T; 7:105547288-105547288

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.997-1G>T; p.?; 7:105550054-105550054

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1068G>C; p.Q356H; 7:105550126-105550126

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1834_1835GA>AG; p.D612S; 7:105563895-105563896

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.393T>G; p.I131M; 7:105542527-105542527

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.583G>T; p.A195S; 7:105546977-105546977

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.579T>G; p.S193S; 7:105546973-105546973

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.113T>C; p.I38T; 7:105536589-105536589

 pancreascarcinomaSubstitution - Missense

c.113T>C; p.I38T; 7:105536589-105536589

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.259C>G; p.Q87E; 7:105536735-105536735

 central_nervous_system; braingliomaSubstitution - Missense

c.466G>A; p.E156K; 7:105542600-105542600

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.79G>A; p.E27K; 7:105532860-105532860

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1876delA; p.E628fs*14; 7:105563937-105563937

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1281T>C; p.H427H; 7:105550434-105550434

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1281T>C; p.H427H; 7:105550434-105550434

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.79G>A; p.E27K; 7:105532860-105532860

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.456T>C; p.I152I; 7:105542590-105542590

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.456T>C; p.I152I; 7:105542590-105542590

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2310C>A; p.Y770*; 7:105567242-105567242

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.456T>A; p.I152I; 7:105542590-105542590

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.895T>A; p.S299T; 7:105548609-105548609

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1640C>G; p.S547*; 7:105555196-105555196

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.84G>T; p.E28D; 7:105532865-105532865

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IISubstitution - Missense

c.787A>C; p.I263L; 7:105547281-105547281

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.578C>A; p.S193Y; 7:105546972-105546972

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.702A>C; p.E234D; 7:105547196-105547196

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1909T>C; p.S637P; 7:105565299-105565299

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1656T>C; p.D552D; 7:105555212-105555212

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1386G>A; p.S462S; 7:105551622-105551622

 stomachadenocarcinomaSubstitution - coding silent

c.387C>T; p.S129S; 7:105542521-105542521

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1074A>G; p.I358M; 7:105550132-105550132

 livercarcinomaSubstitution - Missense

c.226A>C; p.K76Q; 7:105536702-105536702

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1483A>C; p.N495H; 7:105555039-105555039

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1426C>G; p.P476A; 7:105551662-105551662

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.667A>C; p.I223L; 7:105547061-105547061

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2042A>T; p.K681M; 7:105565432-105565432

 kidneyother; neoplasmSubstitution - Missense

c.1357A>G; p.M453V; 7:105551593-105551593

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2060A>G; p.Y687C; 7:105565450-105565450

 breastcarcinomaSubstitution - Missense

c.849A>G; p.L283L; 7:105548563-105548563

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2288C>T; p.A763V; 7:105567220-105567220

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1540G>T; p.D514Y; 7:105555096-105555096

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1250G>A; p.G417D; 7:105550403-105550403

 thyroidcarcinomaSubstitution - Missense

c.353A>G; p.N118S; 7:105542487-105542487

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.1847G>T; p.R616I; 7:105563908-105563908

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1477T>C; p.Y493H; 7:105555033-105555033

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1724C>A; p.T575N; 7:105563785-105563785

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.408G>T; p.L136L; 7:105542542-105542542

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.736delC; p.P247fs*8; 7:105547230-105547230

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.120T>C; p.S40S; 7:105536596-105536596

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.584C>T; p.A195V; 7:105546978-105546978

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.2322A>G; p.Q774Q; 7:105567254-105567254

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.321delA; p.N109fs*28; 7:105542455-105542455

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.884C>G; p.S295C; 7:105548598-105548598

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.321delA; p.N109fs*28; 7:105542455-105542455

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1160A>C; p.D387A; 7:105550313-105550313

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.583G>A; p.A195T; 7:105546977-105546977

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1872G>T; p.L624F; 7:105563933-105563933

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.902C>A; p.S301Y; 7:105548616-105548616

 central_nervous_system; braingliomaSubstitution - Missense

c.254A>C; p.K85T; 7:105536730-105536730

 central_nervous_system; braingliomaSubstitution - Missense

c.585A>G; p.A195A; 7:105546979-105546979

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.867A>T; p.Q289H; 7:105548581-105548581

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.867A>T; p.Q289H; 7:105548581-105548581

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.763A>C; p.S255R; 7:105547257-105547257

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.763A>C; p.S255R; 7:105547257-105547257

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1927T>A; p.S643T; 7:105565317-105565317

 pancreascarcinomaSubstitution - Missense

c.310C>T; p.R104*; 7:105542444-105542444

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2187-1G>A; p.?; 7:105567118-105567118

 skin; trunkmalignant_melanomaUnknown

c.298C>T; p.P100S; 7:105542432-105542432

 skinmalignant_melanomaSubstitution - Missense

c.1571T>C; p.M524T; 7:105555127-105555127

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.567C>T; p.S189S; 7:105546961-105546961

 skinmalignant_melanomaSubstitution - coding silent

c.356A>T; p.Q119L; 7:105542490-105542490

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.966A>C; p.R322S; 7:105548680-105548680

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.430G>A; p.D144N; 7:105542564-105542564

 skinmalignant_melanomaSubstitution - Missense

c.550G>A; p.V184I; 7:105546944-105546944

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.636C>T; p.F212F; 7:105547030-105547030

 skinmalignant_melanomaSubstitution - coding silent

c.342G>A; p.K114K; 7:105542476-105542476

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.194G>C; p.G65A; 7:105536670-105536670

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1101C>T; p.N367N; 7:105550159-105550159

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.813T>G; p.F271L; 7:105547307-105547307

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.2074C>T; p.L692F; 7:105565536-105565536

 skinmalignant_melanomaSubstitution - Missense

c.1306C>T; p.Q436*; 7:105550459-105550459

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2364T>A; p.P788P; 7:105567296-105567296

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1966C>T; p.R656*; 7:105565356-105565356

 breastcarcinomaSubstitution - Nonsense

c.889C>T; p.P297S; 7:105548603-105548603

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.91G>C; p.D31H; 7:105536567-105536567

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.311G>A; p.R104Q; 7:105542445-105542445

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2006_2007CC>TT; p.S669F; 7:105565396-105565397

 skinmalignant_melanomaSubstitution - Missense

c.255A>T; p.K85N; 7:105536731-105536731

 central_nervous_system; braingliomaSubstitution - Missense

c.2363C>T; p.P788L; 7:105567295-105567295

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1845_1846insT; p.R616fs*1; 7:105563906-105563907

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeInsertion - Frameshift

c.1481A>C; p.K494T; 7:105555037-105555037

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1259G>A; p.G420D; 7:105550412-105550412

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.854C>G; p.T285S; 7:105548568-105548568

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.625C>A; p.L209I; 7:105547019-105547019

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.625C>A; p.L209I; 7:105547019-105547019

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.625C>A; p.L209I; 7:105547019-105547019

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.138T>C; p.G46G; 7:105536614-105536614

 pancreascarcinomaSubstitution - coding silent

c.704delT; p.L236fs*1; 7:105547198-105547198

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.2177A>T; p.Y726F; 7:105565639-105565639

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1592_1593CC>TT; p.S531F; 7:105555148-105555149

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1267G>A; p.A423T; 7:105550420-105550420

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - Missense

c.973C>T; p.R325W; 7:105548687-105548687

 central_nervous_system; cerebellumglioma; astrocytoma_Grade_ISubstitution - Missense

c.973C>T; p.R325W; 7:105548687-105548687

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1716G>T; p.E572D; 7:105563777-105563777

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1013C>T; p.A338V; 7:105550071-105550071

 skinmalignant_melanomaSubstitution - Missense

c.1672-3C>T; p.?; 7:105563730-105563730

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeUnknown

c.1594C>A; p.L532I; 7:105555150-105555150

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1275T>C; p.C425C; 7:105550428-105550428

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.896delC; p.P300fs*11; 7:105548610-105548610

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeDeletion - Frameshift

c.1458C>A; p.L486L; 7:105551694-105551694

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

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