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

Basic Information

Gene ID

4149

Name

MAX

Synonymous

MYC associated factor X;MAX;MYC associated factor X

Definition

class D basic helix-loop-helix protein 4|protein max

Position

14q23

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 0.08.

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.223C>T; p.R75*; 14:65077985-65077985

 adrenal_glandpheochromocytomaSubstitution - Nonsense

c.293A>C; p.Q98P; 14:65077915-65077915

 central_nervous_system; braingliomaSubstitution - Missense

c.289C>T; p.Q97*; 14:65077919-65077919

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.299G>A; p.R100H; 14:65076660-65076660

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.13G>A; p.D5N; 14:65102327-65102327

 breastcarcinomaSubstitution - Missense

c.140_157del18; p.R47_S52del; 14:65093722-65093739

 adrenal_glandpheochromocytomaDeletion - In frame

c.244C>T; p.Q82*; 14:65077964-65077964

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.269G>C; p.R90P; 14:65077939-65077939

 adrenal_glandpheochromocytomaSubstitution - Missense

c.137T>C; p.L46S; 14:65093742-65093742

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.25_25delG; p.V9fs*56; 14:65102315-65102315

 adrenal_glandpheochromocytomaDeletion - Frameshift

c.8A>T; p.D3V; 14:65102332-65102332

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.104G>T; p.R35L; 14:65093775-65093775

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.296-1G>A; p.?; 14:65076664-65076664

 lungcarcinoma; adenocarcinomaUnknown

c.296-2A>C; p.?; 14:65076665-65076665

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.298C>T; p.R100C; 14:65076661-65076661

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.25G>A; p.V9M; 14:65102315-65102315

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.103C>T; p.R35C; 14:65093776-65093776

 adrenal_glandpheochromocytomaSubstitution - Missense

c.179G>A; p.R60Q; 14:65078029-65078029

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.179G>A; p.R60Q; 14:65078029-65078029

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.179G>A; p.R60Q; 14:65078029-65078029

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - Missense

c.179G>A; p.R60Q; 14:65078029-65078029

 central_nervous_system; braingliomaSubstitution - Missense

c.179G>A; p.R60Q; 14:65078029-65078029

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.179G>A; p.R60Q; 14:65078029-65078029

 central_nervous_system; brainstemglioma; astrocytoma_Grade_IIISubstitution - Missense

c.179G>A; p.R60Q; 14:65078029-65078029

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.179G>A; p.R60Q; 14:65078029-65078029

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.179G>A; p.R60Q; 14:65078029-65078029

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.179G>A; p.R60Q; 14:65078029-65078029

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.179G>A; p.R60Q; 14:65078029-65078029

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.179G>A; p.R60Q; 14:65078029-65078029

 central_nervous_system; braingliomaSubstitution - Missense

c.179G>A; p.R60Q; 14:65078029-65078029

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.179G>A; p.R60Q; 14:65078029-65078029

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.222G>A; p.M74I; 14:65077986-65077986

 prostatecarcinomaSubstitution - Missense

c.97C>T; p.R33*; 14:65093782-65093782

 adrenal_glandpheochromocytomaSubstitution - Nonsense

c.16G>T; p.D6Y; 14:65102324-65102324

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.121G>T; p.D41Y; 14:65093758-65093758

 breastcarcinomaSubstitution - Missense

c.94G>T; p.E32*; 14:65093785-65093785

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.104G>A; p.R35H; 14:65093775-65093775

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Missense

c.371C>T; p.T124I; 14:65076588-65076588

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.314C>T; p.A105V; 14:65076645-65076645

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.94G>A; p.E32K; 14:65093785-65093785

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.347C>T; p.P116L; 14:65076612-65076612

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.188T>G; p.I63S; 14:65078020-65078020

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.157C>T; p.L53F; 14:65093722-65093722

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.157C>T; p.L53F; 14:65093722-65093722

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.157C>T; p.L53F; 14:65093722-65093722

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.425C>T; p.S142L; 14:65076534-65076534

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.359A>C; p.N120T; 14:65076600-65076600

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemiaSubstitution - Missense

c.333G>A; p.L111L; 14:65076626-65076626

 breastcarcinomaSubstitution - coding silent

c.355G>A; p.D119N; 14:65076604-65076604

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.139C>T; p.R47W; 14:65093740-65093740

 thyroidother; neoplasmSubstitution - Missense

c.139C>T; p.R47W; 14:65093740-65093740

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.83A>G; p.H28R; 14:65093796-65093796

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.83A>G; p.H28R; 14:65093796-65093796

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.83A>G; p.H28R; 14:65093796-65093796

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.83A>G; p.H28R; 14:65093796-65093796

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.83A>G; p.H28R; 14:65093796-65093796

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.365T>A; p.L122H; 14:65076594-65076594

 livercarcinomaSubstitution - Missense

c.365T>A; p.L122H; 14:65076594-65076594

 livercarcinomaSubstitution - Missense

c.368A>G; p.Y123C; 14:65076591-65076591

 lungcarcinoma; undifferentiated_carcinomaSubstitution - Missense

c.141G>T; p.R47R; 14:65093738-65093738

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.378C>A; p.A126A; 14:65076581-65076581

 skin; legmalignant_melanoma; superficial_spreadingSubstitution - coding silent

c.67G>C; p.D23H; 14:65093812-65093812

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.67G>C; p.D23H; 14:65093812-65093812

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.42G>T; p.E14D; 14:65101567-65101567

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3G>T; p.M1I; 14:65102337-65102337

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.172-2A>G; p.?; 14:65078038-65078038

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

')