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

Basic Information

Gene ID

10768

Name

AHCYL1

Synonymous

adenosylhomocysteinase-like 1;AHCYL1;adenosylhomocysteinase-like 1

Definition

DC-expressed AHCY-like molecule|IP(3)Rs binding protein released with IP(3)|S-adenosyl homocysteine hydrolase homolog|S-adenosyl-L-homocysteine hydrolase 2|S-adenosylhomocysteine hydrolase-like protein 1|adoHcyase 2|dendritic cell expressed AHCY-like prot

Position

1p13.2

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 0.13.

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.1094G>A; p.R365Q; 1:110017987-110017987

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1219-1G>A; p.?; 1:110018551-110018551

 kidneycarcinoma; papillary_renal_cell_carcinomaUnknown

c.1318-9C>T; p.?; 1:110019042-110019042

 breastcarcinomaUnknown

c.744C>T; p.I248I; 1:110015493-110015493

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.744C>T; p.I248I; 1:110015493-110015493

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1245G>A; p.T415T; 1:110018578-110018578

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.538T>C; p.Y180H; 1:110012957-110012957

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.420G>A; p.E140E; 1:110012405-110012405

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1308C>T; p.L436L; 1:110018641-110018641

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1308C>T; p.L436L; 1:110018641-110018641

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - coding silent

c.179G>A; p.R60Q; 1:110009092-110009092

 central_nervous_system; braingliomaSubstitution - Missense

c.948G>A; p.V316V; 1:110016715-110016715

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1179C>T; p.I393I; 1:110018428-110018428

 prostatecarcinomaSubstitution - coding silent

c.1318-8C>A; p.?; 1:110019043-110019043

 prostatecarcinomaUnknown

c.320T>A; p.V107E; 1:110011301-110011301

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1543C>T; p.L515L; 1:110020808-110020808

 breastcarcinomaSubstitution - coding silent

c.1405C>T; p.L469F; 1:110019566-110019566

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.622T>G; p.F208V; 1:110014804-110014804

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.967G>T; p.G323C; 1:110017498-110017498

 kidneyother; neoplasmSubstitution - Missense

c.924G>C; p.M308I; 1:110016691-110016691

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.1198T>C; p.S400P; 1:110018447-110018447

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1334T>G; p.L445W; 1:110019067-110019067

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1177A>C; p.I393L; 1:110018426-110018426

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.1107C>T; p.V369V; 1:110018000-110018000

 breastcarcinoma; ductal_carcinomaSubstitution - coding silent

c.1107C>T; p.V369V; 1:110018000-110018000

 livercarcinomaSubstitution - coding silent

c.1102G>A; p.D368N; 1:110017995-110017995

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.903G>A; p.L301L; 1:110016670-110016670

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1375G>A; p.A459T; 1:110019108-110019108

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1160G>A; p.R387H; 1:110018409-110018409

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.409G>A; p.A137T; 1:110012394-110012394

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.694G>T; p.D232Y; 1:110015443-110015443

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.641G>A; p.R214H; 1:110014823-110014823

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1527T>C; p.D509D; 1:110020792-110020792

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.883G>T; p.E295*; 1:110016444-110016444

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.883G>T; p.E295*; 1:110016444-110016444

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.606C>T; p.G202G; 1:110014788-110014788

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.594C>T; p.F198F; 1:110014776-110014776

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.960T>C; p.G320G; 1:110016727-110016727

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1420G>A; p.E474K; 1:110019581-110019581

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1212C>T; p.I404I; 1:110018461-110018461

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1212C>T; p.I404I; 1:110018461-110018461

 skinmalignant_melanomaSubstitution - coding silent

c.56C>G; p.A19G; 1:109985108-109985108

 thyroidother; neoplasmSubstitution - Missense

c.1321C>T; p.R441C; 1:110019054-110019054

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1214A>C; p.D405A; 1:110018463-110018463

 kidneycarcinoma; renal_cell_carcinomaSubstitution - Missense

c.1214A>C; p.D405A; 1:110018463-110018463

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.881G>A; p.R294Q; 1:110016442-110016442

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.127C>T; p.Q43*; 1:110009040-110009040

 skinmalignant_melanomaSubstitution - Nonsense

c.7A>C; p.M3L; 1:109985059-109985059

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.517C>T; p.R173C; 1:110012936-110012936

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1180G>A; p.V394I; 1:110018429-110018429

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1587-1G>T; p.?; 1:110021673-110021673

 lungcarcinoma; adenocarcinomaUnknown

c.967G>A; p.G323S; 1:110017498-110017498

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.749G>A; p.G250D; 1:110015498-110015498

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1555delA; p.N520fs*>11; 1:110020820-110020820

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1549C>T; p.L517F; 1:110020814-110020814

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.55G>A; p.A19T; 1:109985107-109985107

 thyroidother; neoplasmSubstitution - Missense

c.1108G>A; p.V370I; 1:110018001-110018001

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1108G>A; p.V370I; 1:110018001-110018001

 stomachadenocarcinomaSubstitution - Missense

c.1224C>G; p.S408R; 1:110018557-110018557

 thyroidother; neoplasmSubstitution - Missense

c.1021G>T; p.E341*; 1:110017552-110017552

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.59_61delAGG; p.E21delE; 1:109985111-109985113

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.167C>T; p.T56I; 1:110009080-110009080

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.235G>A; p.A79T; 1:110011216-110011216

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.235G>A; p.A79T; 1:110011216-110011216

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1093C>A; p.R365R; 1:110017986-110017986

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.624C>T; p.F208F; 1:110014806-110014806

 pancreascarcinomaSubstitution - coding silent

c.909G>T; p.R303S; 1:110016676-110016676

 breastcarcinomaSubstitution - Missense

c.1501G>T; p.D501Y; 1:110020766-110020766

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.205C>T; p.Q69*; 1:110009118-110009118

 skinmalignant_melanomaSubstitution - Nonsense

c.219C>T; p.D73D; 1:110009132-110009132

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.120+2T>A; p.?; 1:109985174-109985174

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaUnknown

c.837T>C; p.N279N; 1:110016398-110016398

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.783G>T; p.R261S; 1:110016344-110016344

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.311A>T; p.N104I; 1:110011292-110011292

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.746G>A; p.R249Q; 1:110015495-110015495

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.144G>A; p.M48I; 1:110009057-110009057

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.364A>C; p.I122L; 1:110011345-110011345

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1228C>T; p.R410C; 1:110018561-110018561

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1228C>T; p.R410C; 1:110018561-110018561

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1228C>T; p.R410C; 1:110018561-110018561

 large_intestine; coloncarcinomaSubstitution - Missense

c.1228C>T; p.R410C; 1:110018561-110018561

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.33G>T; p.G11G; 1:109985085-109985085

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1093C>T; p.R365W; 1:110017986-110017986

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.162C>T; p.F54F; 1:110009075-110009075

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1549C>A; p.L517I; 1:110020814-110020814

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1093C>T; p.R365W; 1:110017986-110017986

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1352C>T; p.P451L; 1:110019085-110019085

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

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