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

Basic Information

Gene ID

54904

Name

WHSC1L1

Synonymous

Wolf-Hirschhorn syndrome candidate 1-like 1;WHSC1L1;Wolf-Hirschhorn syndrome candidate 1-like 1

Definition

WHSC1-like 1 isoform 9 with methyltransferase activity to lysine|histone-lysine N-methyltransferase NSD3|nuclear SET domain-containing protein 3|protein whistle

Position

8p11.2

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 0.14.

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.86G>A; p.R29H; 8:38348086-38348086

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.959C>T; p.A320V; 8:38331537-38331537

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.261G>A; p.Q87Q; 8:38347911-38347911

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.806A>G; p.Q269R; 8:38337409-38337409

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1616G>T; p.G539V; 8:38326822-38326822

 skinmalignant_melanomaSubstitution - Missense

c.632G>A; p.R211H; 8:38347540-38347540

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1507A>G; p.I503V; 8:38329452-38329452

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1656T>C; p.N552N; 8:38326782-38326782

 pancreascarcinomaSubstitution - coding silent

c.1136T>C; p.L379S; 8:38329823-38329823

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1255_1256insA; p.T419fs*28; 8:38329703-38329704

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.745C>T; p.P249S; 8:38338538-38338538

 skinmalignant_melanomaSubstitution - Missense

c.1446C>T; p.S482S; 8:38329513-38329513

 skinmalignant_melanomaSubstitution - coding silent

c.631C>T; p.R211C; 8:38347541-38347541

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.66C>T; p.L22L; 8:38348106-38348106

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.9C>G; p.F3L; 8:38348163-38348163

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1309G>C; p.E437Q; 8:38329650-38329650

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.928G>T; p.V310F; 8:38331568-38331568

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1336G>C; p.E446Q; 8:38329623-38329623

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.222A>G; p.P74P; 8:38347950-38347950

 pancreascarcinomaSubstitution - coding silent

c.558G>A; p.T186T; 8:38347614-38347614

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1052C>G; p.S351C; 8:38331444-38331444

 central_nervous_system; thalamusglioma; astrocytoma_Grade_IISubstitution - Missense

c.736G>T; p.E246*; 8:38338547-38338547

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.824G>C; p.W275S; 8:38337391-38337391

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1392G>A; p.P464P; 8:38329567-38329567

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.413C>T; p.S138L; 8:38347759-38347759

 thyroidcarcinomaSubstitution - Missense

c.1444T>C; p.S482P; 8:38329515-38329515

 breastcarcinoma; ER-PR-positive_carcinomaSubstitution - Missense

c.1690G>T; p.A564S; 8:38326748-38326748

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.977G>C; p.R326P; 8:38331519-38331519

 livercarcinomaSubstitution - Missense

c.977G>C; p.R326P; 8:38331519-38331519

 livercarcinomaSubstitution - Missense

c.121G>A; p.A41T; 8:38348051-38348051

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1418C>T; p.A473V; 8:38329541-38329541

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1255delA; p.T419fs*8; 8:38329704-38329704

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1255delA; p.T419fs*8; 8:38329704-38329704

 stomachadenocarcinomaDeletion - Frameshift

c.1541G>A; p.G514E; 8:38329418-38329418

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1261C>T; p.R421*; 8:38329698-38329698

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.1594A>T; p.K532*; 8:38326844-38326844

 livercarcinomaSubstitution - Nonsense

c.594A>T; p.K198N; 8:38347578-38347578

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1077C>T; p.P359P; 8:38329882-38329882

 skinmalignant_melanomaSubstitution - coding silent

c.1433C>T; p.S478F; 8:38329526-38329526

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.838A>C; p.T280P; 8:38337377-38337377

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1667C>T; p.T556M; 8:38326771-38326771

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.701T>C; p.V234A; 8:38338582-38338582

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.115G>A; p.D39N; 8:38348057-38348057

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1126G>A; p.E376K; 8:38329833-38329833

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.15C>A; p.F5L; 8:38348157-38348157

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1168T>C; p.Y390H; 8:38329791-38329791

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.933G>A; p.Q311Q; 8:38331563-38331563

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1722G>T; p.K574N; 8:38321159-38321159

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1010A>C; p.E337A; 8:38331486-38331486

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.325A>G; p.T109A; 8:38347847-38347847

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1086G>A; p.Q362Q; 8:38329873-38329873

 breastcarcinomaSubstitution - coding silent

c.1212C>T; p.S404S; 8:38329747-38329747

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1192C>A; p.Q398K; 8:38329767-38329767

 breastcarcinomaSubstitution - Missense

c.721G>T; p.E241*; 8:38338562-38338562

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1295A>C; p.Q432P; 8:38329664-38329664

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1910C>T; p.S637F; 8:38317984-38317984

 upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.886G>T; p.V296F; 8:38337329-38337329

 pancreascarcinomaSubstitution - Missense

c.923A>T; p.Y308F; 8:38331573-38331573

 skinmalignant_melanomaSubstitution - Missense

c.245C>T; p.T82I; 8:38347927-38347927

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1445C>T; p.S482F; 8:38329514-38329514

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1391C>T; p.P464L; 8:38329568-38329568

 thyroidcarcinomaSubstitution - Missense

c.1194G>A; p.Q398Q; 8:38329765-38329765

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.287C>A; p.S96*; 8:38347885-38347885

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Nonsense

c.1531A>G; p.N511D; 8:38329428-38329428

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1553T>G; p.F518C; 8:38329406-38329406

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.813C>T; p.G271G; 8:38337402-38337402

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1306G>T; p.G436W; 8:38329653-38329653

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.429G>T; p.V143V; 8:38347743-38347743

 skinmalignant_melanomaSubstitution - coding silent

c.747A>G; p.P249P; 8:38338536-38338536

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.84C>T; p.I28I; 8:38348088-38348088

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.592A>G; p.K198E; 8:38347580-38347580

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1552T>C; p.F518L; 8:38329407-38329407

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1221A>C; p.K407N; 8:38329738-38329738

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.960G>T; p.A320A; 8:38331536-38331536

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.550G>A; p.E184K; 8:38347622-38347622

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.196C>G; p.L66V; 8:38347976-38347976

 NSNSSubstitution - Missense

')