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

Basic Information

Gene ID

1687

Name

DFNA5

Synonymous

deafness, autosomal dominant 5;DFNA5;deafness, autosomal dominant 5

Definition

inversely correlated with estrogen receptor expression 1|non-syndromic hearing impairment protein 5|nonsyndromic hearing impairment protein

Position

7p15

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 0.15.

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.1197C>T; p.S399S; 7:24702820-24702820

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.495G>A; p.M165I; 7:24719128-24719128

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.699G>A; p.E233E; 7:24710387-24710387

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1005C>A; p.V335V; 7:24706362-24706362

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.658G>A; p.G220S; 7:24717293-24717293

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.658G>A; p.G220S; 7:24717293-24717293

 pancreascarcinoma; acinar_carcinomaSubstitution - Missense

c.352C>A; p.L118M; 7:24744614-24744614

 breastcarcinomaSubstitution - Missense

c.759C>G; p.V253V; 7:24710327-24710327

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.746G>A; p.R249K; 7:24710340-24710340

 skinmalignant_melanomaSubstitution - Missense

c.178G>A; p.D60N; 7:24749597-24749597

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.178G>A; p.D60N; 7:24749597-24749597

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.755C>T; p.S252F; 7:24710331-24710331

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.50G>A; p.G17D; 7:24749725-24749725

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.979C>T; p.L327L; 7:24708138-24708138

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.478C>T; p.Q160*; 7:24719145-24719145

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Nonsense

c.596G>A; p.G199E; 7:24717355-24717355

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1180G>A; p.A394T; 7:24706187-24706187

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.618C>T; p.N206N; 7:24717333-24717333

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.473delT; p.L158fs*1; 7:24719150-24719150

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1382G>A; p.R461K; 7:24699135-24699135

 skinmalignant_melanomaSubstitution - Missense

c.70A>G; p.N24D; 7:24749705-24749705

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.628G>T; p.E210*; 7:24717323-24717323

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1309A>C; p.T437P; 7:24699208-24699208

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.325G>A; p.V109I; 7:24744641-24744641

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.325G>A; p.V109I; 7:24744641-24744641

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.147C>A; p.P49P; 7:24749628-24749628

 skinmalignant_melanomaSubstitution - coding silent

c.1443T>C; p.L481L; 7:24699074-24699074

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1040A>G; p.E347G; 7:24706327-24706327

 breastcarcinomaSubstitution - Missense

c.588G>T; p.T196T; 7:24717363-24717363

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1284A>G; p.V428V; 7:24699233-24699233

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.169A>C; p.T57P; 7:24749606-24749606

 breastcarcinomaSubstitution - Missense

c.516G>A; p.E172E; 7:24719107-24719107

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.529G>A; p.E177K; 7:24719094-24719094

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1107T>G; p.G369G; 7:24706260-24706260

 breastcarcinomaSubstitution - coding silent

c.302T>C; p.L101P; 7:24744664-24744664

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.322C>T; p.R108C; 7:24744644-24744644

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1018C>T; p.P340S; 7:24706349-24706349

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.549C>T; p.I183I; 7:24719074-24719074

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.386T>A; p.I129N; 7:24744580-24744580

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1104G>C; p.Q368H; 7:24706263-24706263

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.678G>C; p.V226V; 7:24717273-24717273

 breastcarcinomaSubstitution - coding silent

c.1114C>T; p.P372S; 7:24706253-24706253

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.336G>A; p.Q112Q; 7:24744630-24744630

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.489G>A; p.T163T; 7:24719134-24719134

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.715G>T; p.G239W; 7:24710371-24710371

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1051C>T; p.R351W; 7:24706316-24706316

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.425C>T; p.P142L; 7:24719198-24719198

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1406T>A; p.V469D; 7:24699111-24699111

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1363G>T; p.A455S; 7:24699154-24699154

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1262G>A; p.R421H; 7:24699255-24699255

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1066C>T; p.L356F; 7:24706301-24706301

 skinmalignant_melanomaSubstitution - Missense

c.1120C>T; p.P374S; 7:24706247-24706247

 skinmalignant_melanomaSubstitution - Missense

c.921G>A; p.Q307Q; 7:24708196-24708196

 skinmalignant_melanomaSubstitution - coding silent

c.1352T>A; p.L451*; 7:24699165-24699165

 breastcarcinomaSubstitution - Nonsense

c.1198G>A; p.A400T; 7:24702819-24702819

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1083G>A; p.Q361Q; 7:24706284-24706284

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.275T>G; p.L92R; 7:24744691-24744691

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.820G>C; p.G274R; 7:24710266-24710266

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.134G>T; p.C45F; 7:24749641-24749641

 prostatecarcinomaSubstitution - Missense

c.324C>T; p.R108R; 7:24744642-24744642

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1136G>T; p.S379I; 7:24706231-24706231

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.314delG; p.G105fs*5; 7:24744652-24744652

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.53A>T; p.D18V; 7:24749722-24749722

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.387C>G; p.I129M; 7:24744579-24744579

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.635C>T; p.P212L; 7:24717316-24717316

 skinmalignant_melanomaSubstitution - Missense

c.164C>T; p.S55F; 7:24749611-24749611

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.815C>T; p.A272V; 7:24710271-24710271

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.55C>A; p.L19M; 7:24749720-24749720

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1180G>T; p.A394S; 7:24706187-24706187

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1200A>G; p.A400A; 7:24702817-24702817

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1200A>G; p.A400A; 7:24702817-24702817

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.7G>A; p.A3T; 7:24749768-24749768

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1257G>A; p.L419L; 7:24702760-24702760

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.375G>A; p.L125L; 7:24744591-24744591

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.300G>A; p.K100K; 7:24744666-24744666

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.217G>A; p.V73M; 7:24744749-24744749

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.765G>T; p.L255L; 7:24710321-24710321

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.888C>T; p.F296F; 7:24708229-24708229

 skinmalignant_melanomaSubstitution - coding silent

c.991-8C>T; p.?; 7:24706384-24706384

 prostatecarcinomaUnknown

c.587C>T; p.T196M; 7:24717364-24717364

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.589G>A; p.E197K; 7:24717362-24717362

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.657C>T; p.Y219Y; 7:24717294-24717294

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1290T>A; p.D430E; 7:24699227-24699227

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.395C>G; p.S132C; 7:24744571-24744571

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1467T>A; p.C489*; 7:24699050-24699050

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.323G>A; p.R108H; 7:24744643-24744643

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.820G>A; p.G274R; 7:24710266-24710266

 skinmalignant_melanomaSubstitution - Missense

c.619G>A; p.V207M; 7:24717332-24717332

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1169T>A; p.V390D; 7:24706198-24706198

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.733G>A; p.E245K; 7:24710353-24710353

 skinmalignant_melanomaSubstitution - Missense

c.733G>A; p.E245K; 7:24710353-24710353

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.619G>A; p.V207M; 7:24717332-24717332

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.619G>A; p.V207M; 7:24717332-24717332

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.366G>C; p.E122D; 7:24744600-24744600

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.103A>C; p.S35R; 7:24749672-24749672

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1305C>T; p.T435T; 7:24699212-24699212

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.799G>C; p.D267H; 7:24710287-24710287

 breastcarcinomaSubstitution - Missense

c.1236C>T; p.I412I; 7:24702781-24702781

 skinmalignant_melanomaSubstitution - coding silent

c.558C>T; p.I186I; 7:24719065-24719065

 skinmalignant_melanomaSubstitution - coding silent

c.1073C>A; p.A358D; 7:24706294-24706294

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1336G>A; p.G446R; 7:24699181-24699181

 skinmalignant_melanomaSubstitution - Missense

c.839G>A; p.G280E; 7:24710247-24710247

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1389G>A; p.K463K; 7:24699128-24699128

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

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