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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for HAAO |
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Phenotypic Information for HAAO(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: HAAO |
Familial Cancer Database: HAAO |
* 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_TRYPTOPHAN_METABOLISM REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: HAAO |
MedGen: HAAO (Human Medical Genetics with Condition) | |
ClinVar: HAAO | |
Phenotype | MGI: HAAO (International Mouse Phenotyping Consortium) |
PhenomicDB: HAAO |
Mutations for HAAO |
* 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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There's no structural variation information in COSMIC data for this gene. |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows HAAO 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 |
AI912751 | HAAO | 23 | 398 | 2 | 42994229 | 42994604 | AP3D1 | 390 | 532 | 19 | 2101134 | 2101276 |
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There's no copy number variation information in COSMIC data for this gene. |
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Stat. for Non-Synonymous SNVs (# total SNVs=17) | (# total SNVs=8) |
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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 |
chr2:42994629-42994629 | p.S270F | 2 |
chr2:42995022-42995022 | p.V226E | 1 |
chr2:42997731-42997731 | p.? | 1 |
chr2:43015689-43015689 | p.H47Y | 1 |
chr2:42995060-42995060 | p.A213A | 1 |
chr2:43010461-43010461 | p.G115R | 1 |
chr2:43015711-43015711 | p.G39G | 1 |
chr2:42995063-42995063 | p.I212I | 1 |
chr2:43010491-43010491 | p.E105K | 1 |
chr2:43015719-43015719 | p.I37V | 1 |
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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 | 3 | 1 | 4 |   |   |   |   | 1 | 1 |   | 1 | 2 | 1 |   | 1 | 3 | 1 | 1 | 4 |
# mutation | 2 | 3 | 1 | 4 |   |   |   |   | 1 | 1 |   | 1 | 2 | 1 |   | 1 | 3 | 1 | 1 | 4 |
nonsynonymous SNV | 1 | 1 | 1 | 3 |   |   |   |   | 1 | 1 |   |   | 2 | 1 |   |   | 3 |   | 1 | 2 |
synonymous SNV | 1 | 2 |   | 1 |   |   |   |   |   |   |   | 1 |   |   |   | 1 |   | 1 |   | 2 |
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 |
chr2:42994629 | p.S270F | 2 |
chr2:42996971 | p.F148F | 1 |
chr2:43015684 | p.T139T | 1 |
chr2:42996988 | p.G115R | 1 |
chr2:43015689 | p.E105K | 1 |
chr2:42997320 | p.V100M | 1 |
chr2:43015711 | p.R78W | 1 |
chr2:42997323 | p.H72L | 1 |
chr2:43015740 | p.P284A | 1 |
chr2:42997656 | p.V63L | 1 |
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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 HAAO |
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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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ACADL,AKR1C2,AKR1D1,ALOX15B,C6orf223,CCBL1,FKBP5, GGT1,GGT3P,GGTLC1,GGTLC2,HAAO,OXER1,RLN3, RRP7B,SERHL2,SERHL,SLCO1B1,SLED1,SPINK8,SPINT3 | ADAM2,ALOX15B,APOD,DHRS2,ENPP3,F9,GGT1, GGTLC2,GUSB,HAAO,MVK,NANOG,NAT2,PLA2G4E, PPEF1,RNASE12,SERHL2,SERHL,SPINK8,SULT1C3,UGT2B11 | ||||
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ARL2,FUOM,DDX28,DNAJC30,MZT2A,FAM58A,FAM96B, HAAO,IDH3G,KHK,MESP1,MMAB,NDUFB11,OXER1, PEX10,PMM1,POLE4,POLR2F,POLR2I,PRMT1,YDJC | ALDOC,ALPI,TMEM253,SLC25A47,CRIP1,DGAT1,GAL3ST1, HAAO,LOC148709,MMEL1,OIT3,OXER1,PFKFB4,PNLIP, PNLIPRP2,SLC37A4,TM4SF5,TMED4,TMEM220,TMPRSS7,UGT2B7 |
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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 HAAO |
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DB Category | DB Name | DB's ID and Url link |
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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 |
DB00130 | 3-hydroxyanthranilate 3,4-dioxygenase | approved; nutraceutical; investigational | L-Glutamine | ![]() | ![]() |
DB00160 | 3-hydroxyanthranilate 3,4-dioxygenase | approved; nutraceutical | L-Alanine | ![]() | ![]() |
DB00150 | 3-hydroxyanthranilate 3,4-dioxygenase | approved; nutraceutical | L-Tryptophan | ![]() | ![]() |
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Cross referenced IDs for HAAO |
* 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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