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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for AANAT |
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Phenotypic Information for AANAT(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: AANAT |
Familial Cancer Database: AANAT |
* 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/ |
Metabolic Pathway Description | |
KEGG_TRYPTOPHAN_METABOLISM REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: AANAT |
MedGen: AANAT (Human Medical Genetics with Condition) | |
ClinVar: AANAT | |
Phenotype | MGI: AANAT (International Mouse Phenotyping Consortium) |
PhenomicDB: AANAT |
Mutations for AANAT |
* 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. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
There's no structural variation information in COSMIC data for this gene. |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows AANAT 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 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=11) | (# total SNVs=3) |
(# total SNVs=0) | (# total SNVs=0) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* 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 |
chr17:74465822-74465822 | p.Q132* | 2 |
chr17:74464970-74464970 | p.A48T | 2 |
chr17:74465259-74465259 | p.F56L | 1 |
chr17:74464865-74464865 | p.A13T | 1 |
chr17:74465758-74465758 | p.T110T | 1 |
chr17:74464885-74464885 | p.G19G | 1 |
chr17:74465773-74465773 | p.G115G | 1 |
chr17:74464913-74464913 | p.R29C | 1 |
chr17:74465804-74465804 | p.V126M | 1 |
chr17:74464936-74464936 | p.E36E | 1 |
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SNV Counts per Each Loci in TCGA data |
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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 | 1 |   |   | 1 | 2 |   | 1 |   |   |   |   |   |   |   |   |   | 4 |   |   | 2 |
# mutation | 1 |   |   | 1 | 2 |   | 1 |   |   |   |   |   |   |   |   |   | 4 |   |   | 2 |
nonsynonymous SNV | 1 |   |   | 1 | 1 |   | 1 |   |   |   |   |   |   |   |   |   | 1 |   |   | 2 |
synonymous SNV |   |   |   |   | 1 |   |   |   |   |   |   |   |   |   |   |   | 3 |   |   |   |
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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Top 10 SNVs Having the Most Samples in TCGA data |
* 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 |
chr17:74464885 | p.L164M,AANAT | 1 |
chr17:74464970 | p.S2S,AANAT | 1 |
chr17:74464986 | p.A13T,AANAT | 1 |
chr17:74465259 | p.G19G,AANAT | 1 |
chr17:74465350 | p.A48T,AANAT | 1 |
chr17:74465773 | p.R53H,AANAT | 1 |
chr17:74465804 | p.F56L,AANAT | 1 |
chr17:74465812 | p.E87K,AANAT | 1 |
chr17:74465885 | p.G115G,AANAT | 1 |
chr17:74464834 | p.V126M,AANAT | 1 |
Other DBs for Point Mutations |
Copy Number for AANAT in TCGA |
* 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. |
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 AANAT |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* 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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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* 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 |
AANAT,BIRC8,SMCO3,C7orf43,CDK5R2,DAPK2,DET1, DKK2,ERP27,FRG1,FRMPD2B,KCNK16,PLP1,PTCD1, SERPINE1,AKAP17A,SLC12A9,TCEAL4,UBC,WDR59,ZNF789 | AANAT,ATP11AUN,C6orf15,CGB2,DEFB125,FLJ45445,GH2, HDGFL1,HELT,IGFALS,LOC100133161,MARVELD1,MYH16,ANKRD30BL, NPTX1,OR10J5,PODNL1,PSG8,SLC6A19,TESC,TMEM163 | ||||
AANAT,ACMSD,CABS1,CREG2,DGCR10,DGCR9,DKFZP434K028, DNMT3L,EPHX3,FAM99A,GOLGA6A,LPIN2,MIR155HG,MT1B, OR4C15,OTX1,PARP14,PRF1,RHBDF2,SFRP5,SLC10A2 | AANAT,AMH,APBB3,ATG16L2,ATHL1,C17orf47,ENTHD2, CCDC142,CHKB-CPT1B,CLDN9,CPT1B,ENGASE,PCED1A,KIAA1875, LOC338799,LOC349114,PIDD1,PMS2P3,POLM,SELO,STRC |
Co-Expressed gene's Protein-protein interaction Network Plot |
* 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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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for AANAT |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00360 | aralkylamine N-acetyltransferase | approved; investigational | Tetrahydrobiopterin | ||
DB00150 | aralkylamine N-acetyltransferase | approved; nutraceutical | L-Tryptophan |
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Cross referenced IDs for AANAT |
* 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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