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

Basic Information

Gene ID

51696

Name

HECA

Synonymous

headcase homolog (Drosophila);HECA;headcase homolog (Drosophila)

Definition

headcase protein homolog

Position

6q23-q24

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 0.14.

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.1493G>T; p.G498V; 6:139176966-139176966

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.999G>T; p.R333S; 6:139167011-139167011

 pancreascarcinomaSubstitution - Missense

c.925A>G; p.K309E; 6:139166937-139166937

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.678G>C; p.R226S; 6:139166690-139166690

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.404A>G; p.Y135C; 6:139166416-139166416

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.404A>G; p.Y135C; 6:139166416-139166416

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.621C>T; p.S207S; 6:139166633-139166633

 breastcarcinomaSubstitution - coding silent

c.1367A>G; p.K456R; 6:139174439-139174439

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.361G>A; p.E121K; 6:139166373-139166373

 skinmalignant_melanomaSubstitution - Missense

c.361G>A; p.E121K; 6:139166373-139166373

 breastcarcinomaSubstitution - Missense

c.56G>A; p.S19N; 6:139135452-139135452

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.228T>C; p.A76A; 6:139135624-139135624

 thyroidother; neoplasmSubstitution - coding silent

c.228T>C; p.A76A; 6:139135624-139135624

 thyroidother; neoplasmSubstitution - coding silent

c.228T>C; p.A76A; 6:139135624-139135624

 thyroidother; neoplasmSubstitution - coding silent

c.1349G>A; p.C450Y; 6:139174421-139174421

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.904A>G; p.I302V; 6:139166916-139166916

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.900C>T; p.N300N; 6:139166912-139166912

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.900C>T; p.N300N; 6:139166912-139166912

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1110C>G; p.D370E; 6:139167122-139167122

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.323T>C; p.L108P; 6:139166335-139166335

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1537G>A; p.E513K; 6:139177010-139177010

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1247G>A; p.G416E; 6:139167259-139167259

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1095C>T; p.H365H; 6:139167107-139167107

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.412G>C; p.E138Q; 6:139166424-139166424

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1159G>A; p.A387T; 6:139167171-139167171

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.334G>A; p.D112N; 6:139166346-139166346

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.334G>A; p.D112N; 6:139166346-139166346

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1437C>T; p.Y479Y; 6:139174509-139174509

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.937delG; p.G314fs*48; 6:139166949-139166949

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1490G>A; p.C497Y; 6:139176963-139176963

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.371C>A; p.P124H; 6:139166383-139166383

 thyroidother; neoplasmSubstitution - Missense

c.1276G>T; p.D426Y; 6:139167288-139167288

 kidneyother; neoplasmSubstitution - Missense

c.1591G>T; p.V531L; 6:139177064-139177064

 livercarcinomaSubstitution - Missense

c.1591G>T; p.V531L; 6:139177064-139177064

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.998_999insG; p.H336fs*25; 6:139167010-139167011

 ovarycarcinoma; serous_carcinomaInsertion - Frameshift

c.865C>T; p.R289C; 6:139166877-139166877

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1448C>T; p.A483V; 6:139174520-139174520

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.508G>A; p.D170N; 6:139166520-139166520

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.656C>A; p.A219E; 6:139166668-139166668

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1029C>T; p.F343F; 6:139167041-139167041

 skinmalignant_melanomaSubstitution - coding silent

c.934G>A; p.A312T; 6:139166946-139166946

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1279G>A; p.E427K; 6:139167291-139167291

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1029C>T; p.F343F; 6:139167041-139167041

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.665_666insA; p.C225fs*6; 6:139166677-139166678

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.313C>T; p.P105S; 6:139166325-139166325

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemiaSubstitution - Missense

c.313C>T; p.P105S; 6:139166325-139166325

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1124G>A; p.G375D; 6:139167136-139167136

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.504C>T; p.G168G; 6:139166516-139166516

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.479G>A; p.R160H; 6:139166491-139166491

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.431A>T; p.Q144L; 6:139166443-139166443

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.479G>A; p.R160H; 6:139166491-139166491

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.448C>T; p.R150C; 6:139166460-139166460

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.448C>T; p.R150C; 6:139166460-139166460

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.406G>T; p.E136*; 6:139166418-139166418

 livercarcinomaSubstitution - Nonsense

c.643C>T; p.P215S; 6:139166655-139166655

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.781G>T; p.G261C; 6:139166793-139166793

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.657G>T; p.A219A; 6:139166669-139166669

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.406G>T; p.E136*; 6:139166418-139166418

 livercarcinomaSubstitution - Nonsense

c.1273C>A; p.H425N; 6:139167285-139167285

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1611C>T; p.F537F; 6:139177084-139177084

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.704_705insA; p.S236fs*88; 6:139166716-139166717

 skin; backmalignant_melanomaInsertion - Frameshift

c.1099C>T; p.R367C; 6:139167111-139167111

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.928G>T; p.A310S; 6:139166940-139166940

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1620C>A; p.L540L; 6:139177093-139177093

 skinmalignant_melanomaSubstitution - coding silent

c.448_449delCG; p.R152fs*65; 6:139166460-139166461

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.587G>A; p.R196Q; 6:139166599-139166599

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.765G>T; p.V255V; 6:139166777-139166777

 central_nervous_system; braingliomaSubstitution - coding silent

c.1004delG; p.G335fs*27; 6:139167016-139167016

 prostatecarcinomaDeletion - Frameshift

c.447C>A; p.G149G; 6:139166459-139166459

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1268C>T; p.S423L; 6:139167280-139167280

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1376G>A; p.C459Y; 6:139174448-139174448

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.868T>A; p.S290T; 6:139166880-139166880

 skinmalignant_melanomaSubstitution - Missense

c.1193G>C; p.C398S; 6:139167205-139167205

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.868T>A; p.S290T; 6:139166880-139166880

 skinmalignant_melanomaSubstitution - Missense

c.627G>T; p.K209N; 6:139166639-139166639

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.325G>C; p.E109Q; 6:139166337-139166337

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1096G>A; p.V366M; 6:139167108-139167108

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.383G>A; p.W128*; 6:139166395-139166395

 ovaryother; neoplasmSubstitution - Nonsense

c.963C>T; p.H321H; 6:139166975-139166975

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1334C>T; p.A445V; 6:139174406-139174406

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.291C>T; p.P97P; 6:139166303-139166303

 skinmalignant_melanomaSubstitution - coding silent

c.1051G>A; p.E351K; 6:139167063-139167063

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1051G>A; p.E351K; 6:139167063-139167063

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.622G>A; p.E208K; 6:139166634-139166634

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.998delG; p.G335fs*27; 6:139167010-139167010

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.998delG; p.G335fs*27; 6:139167010-139167010

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.998delG; p.G335fs*27; 6:139167010-139167010

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1036C>T; p.R346W; 6:139167048-139167048

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1178G>A; p.R393K; 6:139167190-139167190

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.314C>T; p.P105L; 6:139166326-139166326

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.374G>A; p.C125Y; 6:139166386-139166386

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.866G>A; p.R289H; 6:139166878-139166878

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.360C>T; p.N120N; 6:139166372-139166372

 ovaryother; neoplasmSubstitution - coding silent

c.465C>G; p.N155K; 6:139166477-139166477

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.711C>T; p.H237H; 6:139166723-139166723

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.1153C>T; p.L385L; 6:139167165-139167165

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.869_870CC>TT; p.S290F; 6:139166881-139166882

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.521G>A; p.R174H; 6:139166533-139166533

 large_intestine; coloncarcinomaSubstitution - Missense

c.666delA; p.K224fs*75; 6:139166678-139166678

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.521G>A; p.R174H; 6:139166533-139166533

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1590C>T; p.F530F; 6:139177063-139177063

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1590C>T; p.F530F; 6:139177063-139177063

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.355A>G; p.N119D; 6:139166367-139166367

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1035G>T; p.R345R; 6:139167047-139167047

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.355A>G; p.N119D; 6:139166367-139166367

 livercarcinomaSubstitution - Missense

c.1068C>T; p.I356I; 6:139167080-139167080

 skinmalignant_melanomaSubstitution - coding silent

c.541G>T; p.G181C; 6:139166553-139166553

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.331_333delGAC; p.D111delD; 6:139166343-139166345

 large_intestine; rectumcarcinoma; adenocarcinomaDeletion - In frame

c.825G>A; p.T275T; 6:139166837-139166837

 skinmalignant_melanomaSubstitution - coding silent

c.1431C>A; p.Y477*; 6:139174503-139174503

 adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Nonsense

c.454C>T; p.R152C; 6:139166466-139166466

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.454C>T; p.R152C; 6:139166466-139166466

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1038G>A; p.R346R; 6:139167050-139167050

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.687T>C; p.N229N; 6:139166699-139166699

 thyroidother; neoplasmSubstitution - coding silent

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