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

Basic Information

Gene ID

8577

Name

TMEFF1

Synonymous

transmembrane protein with EGF-like and two follistatin-like domains 1;TMEFF1;transmembrane protein with EGF-like and two follistatin-like domains 1

Definition

cancer/testis antigen family 120, member 1|tomoregulin-1|transmembrane protein with EGF-like and one follistatin-like domain

Position

9q31

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

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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.1081G>T; p.G361*; 9:100576538-100576538

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1088G>A; p.R363Q; 9:100576545-100576545

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.285G>T; p.L95F; 9:100498853-100498853

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.396G>T; p.Q132H; 9:100509094-100509094

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.799G>A; p.V267I; 9:100561420-100561420

 breastcarcinomaSubstitution - Missense

c.790A>T; p.R264*; 9:100561411-100561411

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.903T>C; p.C301C; 9:100572521-100572521

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.919G>T; p.G307*; 9:100572537-100572537

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.620G>T; p.G207V; 9:100547803-100547803

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.622A>T; p.S208C; 9:100547805-100547805

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.468G>T; p.E156D; 9:100516679-100516679

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.655G>A; p.A219T; 9:100547838-100547838

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.904G>A; p.E302K; 9:100572522-100572522

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.689G>T; p.R230M; 9:100547872-100547872

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.738G>T; p.K246N; 9:100550123-100550123

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.649C>T; p.R217*; 9:100547832-100547832

 breastcarcinomaSubstitution - Nonsense

c.202A>G; p.N68D; 9:100498770-100498770

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.900A>T; p.R300S; 9:100572518-100572518

 livercarcinomaSubstitution - Missense

c.954C>G; p.L318L; 9:100572572-100572572

 breastcarcinomaSubstitution - coding silent

c.271G>C; p.D91H; 9:100498839-100498839

 ovaryother; neoplasmSubstitution - Missense

c.965C>T; p.P322L; 9:100572583-100572583

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.561-1G>T; p.?; 9:100547743-100547743

 lungcarcinoma; adenocarcinomaUnknown

c.220G>A; p.V74I; 9:100498788-100498788

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.306G>A; p.Q102Q; 9:100498874-100498874

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.27G>T; p.P9P; 9:100473571-100473571

 thyroidother; neoplasmSubstitution - coding silent

c.27G>T; p.P9P; 9:100473571-100473571

 thyroidother; neoplasmSubstitution - coding silent

c.27G>T; p.P9P; 9:100473571-100473571

 thyroidother; neoplasmSubstitution - coding silent

c.27G>T; p.P9P; 9:100473571-100473571

 thyroidother; neoplasmSubstitution - coding silent

c.426A>G; p.P142P; 9:100509124-100509124

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.141C>T; p.G47G; 9:100473685-100473685

 livercarcinomaSubstitution - coding silent

c.977A>T; p.K326M; 9:100572595-100572595

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.829G>T; p.E277*; 9:100561450-100561450

 oesophaguscarcinoma; adenocarcinomaSubstitution - Nonsense

c.325C>T; p.P109S; 9:100509023-100509023

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.411A>G; p.V137V; 9:100509109-100509109

 livercarcinomaSubstitution - coding silent

c.411A>G; p.V137V; 9:100509109-100509109

 livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.714A>T; p.T238T; 9:100550099-100550099

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1123A>T; p.T375S; 9:100576580-100576580

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.230G>T; p.C77F; 9:100498798-100498798

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.817A>T; p.M273L; 9:100561438-100561438

 livercarcinomaSubstitution - Missense

c.817A>T; p.M273L; 9:100561438-100561438

 livercarcinomaSubstitution - Missense

c.817A>T; p.M273L; 9:100561438-100561438

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.817A>T; p.M273L; 9:100561438-100561438

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1066C>T; p.P356S; 9:100576523-100576523

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.390G>T; p.K130N; 9:100509088-100509088

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.898A>T; p.R300*; 9:100561519-100561519

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Nonsense

c.651A>T; p.R217R; 9:100547834-100547834

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.898A>T; p.R300*; 9:100561519-100561519

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.377G>T; p.R126M; 9:100509075-100509075

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.267A>G; p.K89K; 9:100498835-100498835

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.494G>T; p.R165I; 9:100516705-100516705

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.486A>G; p.E162E; 9:100516697-100516697

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.940G>T; p.D314Y; 9:100572558-100572558

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1084C>T; p.R362C; 9:100576541-100576541

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1007T>C; p.I336T; 9:100572625-100572625

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.952C>T; p.L318F; 9:100572570-100572570

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.556G>T; p.V186F; 9:100516767-100516767

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.600T>G; p.N200K; 9:100547783-100547783

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.555T>C; p.N185N; 9:100516766-100516766

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1052T>G; p.I351R; 9:100572670-100572670

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.744T>C; p.D248D; 9:100550129-100550129

 livercarcinomaSubstitution - coding silent

c.744T>C; p.D248D; 9:100550129-100550129

 livercarcinomaSubstitution - coding silent

c.300A>G; p.Q100Q; 9:100498868-100498868

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.478G>T; p.G160W; 9:100516689-100516689

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.400G>T; p.E134*; 9:100509098-100509098

 NSNSSubstitution - Nonsense

c.827C>A; p.P276H; 9:100561448-100561448

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.702T>G; p.H234Q; 9:100547885-100547885

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1124C>T; p.T375M; 9:100576581-100576581

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.219C>T; p.D73D; 9:100498787-100498787

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

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