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

Basic Information

Gene ID

1676

Name

DFFA

Synonymous

DNA fragmentation factor, 45kDa, alpha polypeptide;DFFA;DNA fragmentation factor, 45kDa, alpha polypeptide

Definition

DFF45|DNA fragmentation factor 45 kDa subunit|DNA fragmentation factor subunit alpha|inhibitor of CAD

Position

1p36.3-p36.2

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 0.14.

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.650G>T; p.G217V; 1:10463191-10463191

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.421C>A; p.L141I; 1:10467210-10467210

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.736A>G; p.R246G; 1:10463105-10463105

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.736A>G; p.R246G; 1:10463105-10463105

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.193G>C; p.E65Q; 1:10469282-10469282

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.220G>A; p.D74N; 1:10469255-10469255

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.35C>T; p.S12F; 1:10472424-10472424

 breastcarcinomaSubstitution - Missense

c.25G>A; p.V9I; 1:10472434-10472434

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.48G>A; p.R16R; 1:10472411-10472411

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.229C>A; p.L77M; 1:10469246-10469246

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.723C>T; p.I241I; 1:10463118-10463118

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.756G>T; p.E252D; 1:10463085-10463085

 breastcarcinomaSubstitution - Missense

c.39C>T; p.G13G; 1:10472420-10472420

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.741G>A; p.E247E; 1:10463100-10463100

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.389A>G; p.Q130R; 1:10467242-10467242

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.375G>C; p.K125N; 1:10467256-10467256

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.197A>T; p.D66V; 1:10469278-10469278

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.476A>G; p.Q159R; 1:10463586-10463586

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.114C>T; p.C38C; 1:10472345-10472345

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.340G>C; p.D114H; 1:10467291-10467291

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.340G>C; p.D114H; 1:10467291-10467291

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.435C>A; p.D145E; 1:10467196-10467196

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.425C>G; p.S142*; 1:10467206-10467206

 breastcarcinomaSubstitution - Nonsense

c.719A>G; p.H240R; 1:10463122-10463122

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.728C>T; p.T243I; 1:10463113-10463113

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.509G>A; p.R170Q; 1:10463553-10463553

 pancreascarcinomaSubstitution - Missense

c.509G>A; p.R170Q; 1:10463553-10463553

 pancreascarcinomaSubstitution - Missense

c.427G>A; p.E143K; 1:10467204-10467204

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.522_523delAC; p.L175fs*5; 1:10463539-10463540

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.686G>C; p.R229T; 1:10463155-10463155

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.425C>T; p.S142L; 1:10467206-10467206

 breastcarcinomaSubstitution - Missense

c.396A>T; p.K132N; 1:10467235-10467235

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.724C>T; p.L242F; 1:10463117-10463117

 skinmalignant_melanomaSubstitution - Missense

c.713C>T; p.A238V; 1:10463128-10463128

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.414C>T; p.I138I; 1:10467217-10467217

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.778T>A; p.L260M; 1:10463063-10463063

 skinmalignant_melanomaSubstitution - Missense

c.526C>A; p.Q176K; 1:10463536-10463536

 urinary_tract; bladdercarcinomaSubstitution - Missense

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