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

Basic Information

Gene ID

23300

Name

ATMIN

Synonymous

ATM interactor;ATMIN;ATM interactor

Definition

ATM INteracting protein|ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein|ATM/ATR-substrate CHEK2-interacting zinc finger protein|ATM/ATR-substrate CHK2-interacting zinc finger protein|zinc finger protein 822

Position

16q23.2

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

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 0.06.

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.276C>G; p.G92G; 16:81036146-81036146

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.850C>G; p.L284V; 16:81043348-81043348

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1089G>T; p.K363N; 16:81043587-81043587

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1056C>T; p.I352I; 16:81043554-81043554

 skinmalignant_melanomaSubstitution - coding silent

c.2190C>T; p.S730S; 16:81044688-81044688

 skinmalignant_melanomaSubstitution - coding silent

c.1172G>C; p.S391T; 16:81043670-81043670

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2092G>A; p.E698K; 16:81044590-81044590

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.372G>T; p.L124F; 16:81041391-81041391

 thyroidother; neoplasmSubstitution - Missense

c.2248A>C; p.N750H; 16:81044746-81044746

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1262C>T; p.S421L; 16:81043760-81043760

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2036C>G; p.A679G; 16:81044534-81044534

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2119G>A; p.D707N; 16:81044617-81044617

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2145C>T; p.S715S; 16:81044643-81044643

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.1858C>T; p.P620S; 16:81044356-81044356

 skinmalignant_melanomaSubstitution - Missense

c.230C>T; p.S77F; 16:81036100-81036100

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.257G>T; p.C86F; 16:81036127-81036127

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1453C>A; p.Q485K; 16:81043951-81043951

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1316C>G; p.S439C; 16:81043814-81043814

 skinmalignant_melanomaSubstitution - Missense

c.1843G>A; p.D615N; 16:81044341-81044341

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.836C>T; p.T279I; 16:81043334-81043334

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1652A>G; p.E551G; 16:81044150-81044150

 skinmalignant_melanomaSubstitution - Missense

c.1680G>T; p.E560D; 16:81044178-81044178

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.631C>T; p.R211*; 16:81042449-81042449

 pancreascarcinomaSubstitution - Nonsense

c.734A>G; p.E245G; 16:81043232-81043232

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1378C>G; p.Q460E; 16:81043876-81043876

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1828C>T; p.R610C; 16:81044326-81044326

 skinmalignant_melanomaSubstitution - Missense

c.519G>A; p.S173S; 16:81042337-81042337

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1033C>A; p.P345T; 16:81043531-81043531

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2133C>A; p.F711L; 16:81044631-81044631

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2405T>C; p.M802T; 16:81044903-81044903

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1713G>A; p.Q571Q; 16:81044211-81044211

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2282A>G; p.N761S; 16:81044780-81044780

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1026C>A; p.H342Q; 16:81043524-81043524

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.265C>T; p.R89C; 16:81036135-81036135

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1801A>C; p.N601H; 16:81044299-81044299

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1801A>C; p.N601H; 16:81044299-81044299

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.1281T>C; p.S427S; 16:81043779-81043779

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.864G>A; p.P288P; 16:81043362-81043362

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1978A>C; p.T660P; 16:81044476-81044476

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.216G>C; p.S72S; 16:81036086-81036086

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.216G>C; p.S72S; 16:81036086-81036086

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - coding silent

c.2386G>T; p.D796Y; 16:81044884-81044884

 breastcarcinomaSubstitution - Missense

c.2121C>T; p.D707D; 16:81044619-81044619

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1486A>T; p.S496C; 16:81043984-81043984

 skinmalignant_melanomaSubstitution - Missense

c.2045C>T; p.S682F; 16:81044543-81044543

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1174C>T; p.P392S; 16:81043672-81043672

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1923C>A; p.F641L; 16:81044421-81044421

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.434C>T; p.P145L; 16:81041453-81041453

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.526A>G; p.T176A; 16:81042344-81042344

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.526A>G; p.T176A; 16:81042344-81042344

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.913A>G; p.K305E; 16:81043411-81043411

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1118A>G; p.N373S; 16:81043616-81043616

 skinmalignant_melanomaSubstitution - Missense

c.2063G>A; p.C688Y; 16:81044561-81044561

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2358G>A; p.Q786Q; 16:81044856-81044856

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2402C>G; p.T801R; 16:81044900-81044900

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1041A>G; p.S347S; 16:81043539-81043539

 livercarcinomaSubstitution - coding silent

c.1914C>T; p.I638I; 16:81044412-81044412

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1226C>A; p.S409Y; 16:81043724-81043724

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1226C>A; p.S409Y; 16:81043724-81043724

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1226C>A; p.S409Y; 16:81043724-81043724

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1469C>G; p.S490C; 16:81043967-81043967

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2363C>T; p.A788V; 16:81044861-81044861

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1568C>G; p.S523*; 16:81044066-81044066

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.929A>C; p.Q310P; 16:81043427-81043427

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1094G>A; p.S365N; 16:81043592-81043592

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.662G>A; p.R221K; 16:81042480-81042480

 skin; extremitymalignant_melanomaSubstitution - Missense

c.1896C>T; p.P632P; 16:81044394-81044394

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2069G>A; p.G690E; 16:81044567-81044567

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2200G>T; p.D734Y; 16:81044698-81044698

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1676T>C; p.I559T; 16:81044174-81044174

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.569_570CC>TT; p.T190I; 16:81042387-81042388

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1861G>C; p.D621H; 16:81044359-81044359

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.2094G>A; p.E698E; 16:81044592-81044592

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.590G>A; p.C197Y; 16:81042408-81042408

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1499G>A; p.S500N; 16:81043997-81043997

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.2253A>G; p.I751M; 16:81044751-81044751

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2253A>G; p.I751M; 16:81044751-81044751

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2449C>A; p.P817T; 16:81044947-81044947

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.557A>G; p.D186G; 16:81042375-81042375

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.963C>T; p.A321A; 16:81043461-81043461

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2089C>A; p.L697I; 16:81044587-81044587

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.642C>T; p.H214H; 16:81042460-81042460

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.518C>T; p.S173L; 16:81042336-81042336

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.518C>T; p.S173L; 16:81042336-81042336

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.518C>T; p.S173L; 16:81042336-81042336

 skinmalignant_melanomaSubstitution - Missense

c.2022G>A; p.T674T; 16:81044520-81044520

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2280G>A; p.L760L; 16:81044778-81044778

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1150G>A; p.V384I; 16:81043648-81043648

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.385A>G; p.K129E; 16:81041404-81041404

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2350G>A; p.E784K; 16:81044848-81044848

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.598G>A; p.A200T; 16:81042416-81042416

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1154A>G; p.Q385R; 16:81043652-81043652

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1928C>T; p.S643L; 16:81044426-81044426

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2326G>A; p.G776R; 16:81044824-81044824

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1270T>G; p.F424V; 16:81043768-81043768

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.510C>A; p.C170*; 16:81042328-81042328

 autonomic_ganglianeuroblastomaSubstitution - Nonsense

c.1053G>A; p.L351L; 16:81043551-81043551

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.662G>T; p.R221M; 16:81042480-81042480

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1747A>C; p.N583H; 16:81044245-81044245

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

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