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

Basic Information

Gene ID

268

Name

AMH

Synonymous

anti-Mullerian hormone;AMH;anti-Mullerian hormone

Definition

Mullerian inhibiting factor|Mullerian inhibiting substance|anti-Muellerian hormone|muellerian-inhibiting factor|muellerian-inhibiting substance

Position

19p13.3

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 0.00.

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.1385G>A; p.C462Y; 19:2251659-2251659

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.84G>T; p.E28D; 19:2249416-2249416

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.84G>T; p.E28D; 19:2249416-2249416

 large_intestine; coloncarcinomaSubstitution - Missense

c.611C>T; p.A204V; 19:2250707-2250707

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.346C>T; p.R116W; 19:2249678-2249678

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.284G>T; p.R95L; 19:2249616-2249616

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.546G>A; p.P182P; 19:2250470-2250470

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.546G>A; p.P182P; 19:2250470-2250470

 thyroidother; neoplasmSubstitution - coding silent

c.546G>A; p.P182P; 19:2250470-2250470

 thyroidother; neoplasmSubstitution - coding silent

c.347G>A; p.R116Q; 19:2249679-2249679

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.876G>C; p.E292D; 19:2251150-2251150

 livercarcinomaSubstitution - Missense

c.876G>C; p.E292D; 19:2251150-2251150

 livercarcinomaSubstitution - Missense

c.1597G>A; p.G533S; 19:2251871-2251871

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1470C>T; p.G490G; 19:2251744-2251744

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.169G>A; p.V57M; 19:2249501-2249501

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.203delC; p.L70fs*7; 19:2249535-2249535

 large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.193G>A; p.G65S; 19:2249525-2249525

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.117C>T; p.F39F; 19:2249449-2249449

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.525_526delTG; p.V176fs*206; 19:2250449-2250450

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.555+6A>G; p.?; 19:2250485-2250485

 livercarcinomaUnknown

c.146G>T; p.S49I; 19:2249478-2249478

 thyroidother; neoplasmSubstitution - Missense

c.137C>A; p.P46H; 19:2249469-2249469

 livercarcinomaSubstitution - Missense

c.137C>A; p.P46H; 19:2249469-2249469

 livercarcinomaSubstitution - Missense

c.220G>T; p.G74W; 19:2249552-2249552

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.28G>A; p.A10T; 19:2249360-2249360

 pancreascarcinomaSubstitution - Missense

c.23G>T; p.S8I; 19:2249355-2249355

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.23G>T; p.S8I; 19:2249355-2249355

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.279C>A; p.G93G; 19:2249611-2249611

 livercarcinomaSubstitution - coding silent

c.279C>A; p.G93G; 19:2249611-2249611

 livercarcinomaSubstitution - coding silent

c.933G>A; p.P311P; 19:2251207-2251207

 pancreascarcinomaSubstitution - coding silent

c.1441G>A; p.E481K; 19:2251715-2251715

 breastcarcinomaSubstitution - Missense

c.27G>T; p.L9L; 19:2249359-2249359

 livercarcinomaSubstitution - coding silent

c.27G>T; p.L9L; 19:2249359-2249359

 livercarcinomaSubstitution - coding silent

c.207C>T; p.P69P; 19:2249539-2249539

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.974A>G; p.Q325R; 19:2251248-2251248

 thyroidother; neoplasmSubstitution - Missense

c.791G>T; p.G264V; 19:2250975-2250975

 thyroidother; neoplasmSubstitution - Missense

c.1638G>A; p.A546A; 19:2251912-2251912

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.509C>A; p.P170H; 19:2250433-2250433

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1544T>C; p.V515A; 19:2251818-2251818

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1544T>C; p.V515A; 19:2251818-2251818

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1544T>C; p.V515A; 19:2251818-2251818

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1544T>C; p.V515A; 19:2251818-2251818

 thyroidother; neoplasmSubstitution - Missense

c.1544T>C; p.V515A; 19:2251818-2251818

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1544T>C; p.V515A; 19:2251818-2251818

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1239T>A; p.G413G; 19:2251513-2251513

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - coding silent

c.1239T>A; p.G413G; 19:2251513-2251513

 thyroidother; neoplasmSubstitution - coding silent

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