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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ADCY1 |
Basic gene info. | Gene symbol | ADCY1 |
Gene name | adenylate cyclase 1 (brain) | |
Synonyms | AC1|DFNB44 | |
Cytomap | UCSC genome browser: 7p13-p12 | |
Genomic location | chr7 :45614124-45762714 | |
Type of gene | protein-coding | |
RefGenes | NM_001281768.1, NM_021116.2, | |
Ensembl id | ENSG00000164742 | |
Description | 3',5'-cyclic AMP synthetaseATP pyrophosphate-lyase 1Ca(2+)/calmodulin-activated adenylyl cyclaseadenyl cyclaseadenylate cyclase type 1adenylate cyclase type Iadenylyl cyclase 1 | |
Modification date | 20141207 | |
dbXrefs | MIM : 103072 | |
HGNC : HGNC | ||
Ensembl : ENSG00000164742 | ||
HPRD : 00053 | ||
Vega : OTTHUMG00000155420 | ||
Protein | UniProt: Q08828 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ADCY1 | |
BioGPS: 107 | ||
Gene Expression Atlas: ENSG00000164742 | ||
The Human Protein Atlas: ENSG00000164742 | ||
Pathway | NCI Pathway Interaction Database: ADCY1 | |
KEGG: ADCY1 | ||
REACTOME: ADCY1 | ||
ConsensusPathDB | ||
Pathway Commons: ADCY1 | ||
Metabolism | MetaCyc: ADCY1 | |
HUMANCyc: ADCY1 | ||
Regulation | Ensembl's Regulation: ENSG00000164742 | |
miRBase: chr7 :45,614,124-45,762,714 | ||
TargetScan: NM_001281768 | ||
cisRED: ENSG00000164742 | ||
Context | iHOP: ADCY1 | |
cancer metabolism search in PubMed: ADCY1 | ||
UCL Cancer Institute: ADCY1 | ||
Assigned class in ccmGDB | A - This gene has a literature evidence and it belongs to cancer gene. | |
References showing role of ADCY1 in cancer cell metabolism | 1. Li Y, Liang Q, Wen YQ, Chen LL, Wang LT, et al. (2010) Comparative proteomics analysis of human osteosarcomas and benign tumor of bone. Cancer Genet Cytogenet 198: 97-106. doi: 10.1016/j.cancergencyto.2010.01.003. go to article |
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Phenotypic Information for ADCY1(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: ADCY1 |
Familial Cancer Database: ADCY1 |
* This gene is included in those cancer gene databases. |
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Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
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KEGG_PURINE_METABOLISM REACTOME_INTEGRATION_OF_ENERGY_METABOLISM |
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OMIM | 103072; gene. 610154; phenotype. |
Orphanet | 90636; Autosomal recessive non-syndromic sensorineural deafness type DFNB. |
Disease | KEGG Disease: ADCY1 |
MedGen: ADCY1 (Human Medical Genetics with Condition) | |
ClinVar: ADCY1 | |
Phenotype | MGI: ADCY1 (International Mouse Phenotyping Consortium) |
PhenomicDB: ADCY1 |
Mutations for ADCY1 |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
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- Statistics for Tissue and Mutation type | Top |
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- For Inter-chromosomal Variations |
* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'. |
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- For Intra-chromosomal Variations |
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
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Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
ovary | ADCY1 | chr7 | 45617247 | 45617267 | chr7 | 567388 | 567408 | |
ovary | ADCY1 | chr7 | 45639825 | 45639845 | chr7 | 45570899 | 45570919 | |
ovary | ADCY1 | chr7 | 45684854 | 45684874 | ADCY1 | chr7 | 45700086 | 45700106 |
ovary | ADCY1 | chr7 | 45697837 | 45697857 | chr7 | 51788473 | 51788493 | |
ovary | ADCY1 | chr7 | 45700648 | 45700668 | chr7 | 51797055 | 51797075 | |
skin | ADCY1 | chr7 | 45662025 | 45662025 | SLC30A4 | chr15 | 45798748 | 45798748 |
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ADCY1 related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
BM693341 | ADCY1 | 1 | 126 | 7 | 45754755 | 45754880 | KDM3A | 119 | 468 | 2 | 86719270 | 86719619 | |
BM668617 | KDM3A | 24 | 587 | 2 | 86719270 | 86719833 | ADCY1 | 580 | 654 | 7 | 45754806 | 45754880 | |
BG315024 | ADCY1 | 1 | 225 | 7 | 45761533 | 45761756 | JUN | 221 | 668 | 1 | 59248643 | 59249088 | |
AU252813 | ADCY1 | 1 | 225 | 7 | 45758694 | 45758918 | ADCY1 | 223 | 654 | 7 | 45757167 | 45757593 |
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Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample |   | 1 |   | 1 |   |   | 1 |   | 1 |   |   |   |   | 1 |   |   |   | |||
GAIN (# sample) |   | 1 |   | 1 |   |   |   |   | 1 |   |   |   |   | 1 |   |   |   | |||
LOSS (# sample) |   |   |   |   |   |   | 1 |   |   |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (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) |
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Stat. for Non-Synonymous SNVs (# total SNVs=156) | (# total SNVs=42) |
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(# total SNVs=0) | (# total SNVs=0) |
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* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr7:45632382-45632382 | p.V222I | 4 |
chr7:45662327-45662327 | p.F335F | 4 |
chr7:45697426-45697426 | p.D417N | 4 |
chr7:45750217-45750217 | p.R1008Q | 4 |
chr7:45724608-45724608 | p.R672C | 3 |
chr7:45632476-45632476 | p.R253Q | 3 |
chr7:45750216-45750216 | p.R1008W | 3 |
chr7:45717651-45717651 | p.R597W | 3 |
chr7:45726166-45726166 | p.R783H | 3 |
chr7:45725619-45725619 | p.S711L | 3 |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 2 | 4 | 1 | 28 | 4 |   | 12 |   | 4 | 1 |   | 22 | 11 | 4 |   | 1 | 27 | 20 |   | 18 |
# mutation | 2 | 4 | 1 | 27 | 4 |   | 13 |   | 4 | 1 |   | 25 | 12 | 4 |   | 1 | 37 | 27 |   | 28 |
nonsynonymous SNV | 1 | 3 | 1 | 20 | 4 |   | 12 |   | 3 |   |   | 17 | 10 | 4 |   |   | 22 | 15 |   | 21 |
synonymous SNV | 1 | 1 |   | 7 |   |   | 1 |   | 1 | 1 |   | 8 | 2 |   |   | 1 | 15 | 12 |   | 7 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr7:45662327 | p.F335F,ADCY1 | 3 |
chr7:45750216 | p.R1008W | 3 |
chr7:45750217 | p.R1008Q | 3 |
chr7:45717468 | p.T401A,ADCY1 | 2 |
chr7:45725707 | p.R412C,ADCY1 | 2 |
chr7:45717647 | p.D417N,ADCY1 | 2 |
chr7:45697378 | p.V595V | 2 |
chr7:45632382 | p.V222I | 2 |
chr7:45697411 | p.P740P | 2 |
chr7:45697426 | p.R536W | 2 |
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* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
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cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for ADCY1 |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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ADAM7,ADCY10,ALPI,ANKRD50,MPC2,DCAF6,DNAJC5B, DNAJC5G,ELFN2,FAM135B,FOXD4L2,G6PC2,GSTTP1,CFAP74, KLHL12,RAD21L1,TBX10,TEX19,TPCN2,TUBB7P,UNC5C | ABCC12,ACSM1,ADCY10,AKR1D1,C15orf43,CTNNA2,DDC, ELOVL7,EPS8L3,FMO5,HIST1H2AG,HIST1H3G,IDI1,IYD, LST-3TM12,RIMS1,SGPP2,SLC12A3,SLC26A6,TMPRSS11F,ZP2 | ||||
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ADCY10,ASUN,C12orf71,CASC1,DLK1,FGFR1OP2,GLIS3, GPR112,GRK1,KLHL42,KRAS,LOC100133893,LYRM5,MED21, MRPS35,NR5A1,PROL1,SLC23A3,STAR,STK38L,TM7SF3 | ADAMTSL5,ADCY10,AGAP11,BCO2,C3orf35,DEFB131,ENAM, FTCD,GRIA4,HOXC11,HOXC6,HOXC8,KCNJ3,NLRP9, NODAL,NR1I3,SOX6,SPAM1,SUSD2,TBX3,TIAM2 |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Pharmacological Information for ADCY1 |
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DB Category | DB Name | DB's ID and Url link |
Chemistry | BindingDB | Q08828; -. |
Chemistry | ChEMBL | CHEMBL2899; -. |
Organism-specific databases | PharmGKB | PA24560; -. |
Organism-specific databases | CTD | 107; -. |
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* Gene Centered Interaction Network. |
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* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00131 | adenylate cyclase 1 (brain) | approved; nutraceutical | Adenosine monophosphate | ![]() | ![]() |
DB00171 | adenylate cyclase 1 (brain) | approved; nutraceutical | Adenosine triphosphate | ![]() | ![]() |
DB00988 | adenylate cyclase 1 (brain) | approved | Dopamine | ![]() | ![]() |
DB00125 | adenylate cyclase 1 (brain) | approved; nutraceutical | L-Arginine | ![]() | ![]() |
DB00155 | adenylate cyclase 1 (brain) | approved; nutraceutical | L-Citrulline | ![]() | ![]() |
DB00435 | adenylate cyclase 1 (brain) | approved | Nitric Oxide | ![]() | ![]() |
DB00396 | adenylate cyclase 1 (brain) | approved | Progesterone | ![]() | ![]() |
DB00938 | adenylate cyclase 1 (brain) | approved | Salmeterol | ![]() | ![]() |
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Cross referenced IDs for ADCY1 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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