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

Basic Information

Gene ID

378708

Name

APITD1

Synonymous

apoptosis-inducing, TAF9-like domain 1;APITD1;apoptosis-inducing, TAF9-like domain 1

Definition

FANCM-interacting histone fold protein 1|Fanconi anemia-associated polypeptide of 16 kDa|apoptosis-inducing TAF9-like domain-containing protein 1|centromere protein S

Position

1p36.22

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 0.30.

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.418delC; p.Q142fs*>23; 1:10451518-10451518

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.459G>T; p.R153S; 1:10451559-10451559

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.459G>T; p.R153S; 1:10451559-10451559

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.109G>C; p.D37H; 1:10433899-10433899

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.418_419insC; p.Q142fs*>24; 1:10451518-10451519

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.216G>A; p.A72A; 1:10440353-10440353

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.216G>A; p.A72A; 1:10440353-10440353

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.216G>A; p.A72A; 1:10440353-10440353

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.221G>T; p.R74I; 1:10440358-10440358

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.477C>A; p.T159T; 1:10451577-10451577

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.70C>T; p.H24Y; 1:10433860-10433860

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.72C>G; p.H24Q; 1:10433862-10433862

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.225C>T; p.T75T; 1:10440362-10440362

 skinmalignant_melanomaSubstitution - coding silent

c.432T>C; p.S144S; 1:10451532-10451532

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.152C>T; p.S51L; 1:10433942-10433942

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.490A>G; p.K164E; 1:10451590-10451590

 breastcarcinomaSubstitution - Missense

c.145G>A; p.A49T; 1:10433935-10433935

 central_nervous_system; braingliomaSubstitution - Missense

c.387C>T; p.A129A; 1:10451487-10451487

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.238G>A; p.E80K; 1:10440375-10440375

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.238G>A; p.E80K; 1:10440375-10440375

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.387C>T; p.A129A; 1:10451487-10451487

 thyroidother; neoplasmSubstitution - coding silent

c.224C>T; p.T75I; 1:10440361-10440361

 skinmalignant_melanomaSubstitution - Missense

c.82G>T; p.G28C; 1:10433872-10433872

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.418C>T; p.P140S; 1:10451518-10451518

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.128G>A; p.S43N; 1:10433918-10433918

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.477_479delCTT; p.F160delF; 1:10451577-10451579

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.477_479delCTT; p.F160delF; 1:10451577-10451579

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.417_418insC; p.Q142fs*>24; 1:10451517-10451518

 large_intestine; caecumcarcinoma; adenocarcinomaInsertion - Frameshift

c.72C>T; p.H24H; 1:10433862-10433862

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.39C>A; p.F13L; 1:10430556-10430556

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.215C>T; p.A72V; 1:10440352-10440352

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.352C>G; p.Q118E; 1:10451452-10451452

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.133C>T; p.Q45*; 1:10433923-10433923

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.133C>T; p.Q45*; 1:10433923-10433923

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

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