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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for HYAL1 |
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Phenotypic Information for HYAL1(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: HYAL1 |
Familial Cancer Database: HYAL1 |
* This gene is included in those cancer gene databases. |
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 | |
REACTOME_HYALURONAN_METABOLISM REACTOME_METABOLISM_OF_CARBOHYDRATES |
Others | |
OMIM | 601492; phenotype. 601492; phenotype. 607071; gene. 607071; gene. |
Orphanet | 67041; Hyaluronidase deficiency. 67041; Hyaluronidase deficiency. |
Disease | KEGG Disease: HYAL1 |
MedGen: HYAL1 (Human Medical Genetics with Condition) | |
ClinVar: HYAL1 | |
Phenotype | MGI: HYAL1 (International Mouse Phenotyping Consortium) |
PhenomicDB: HYAL1 |
Mutations for HYAL1 |
* 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 HYAL1 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=30) | (# total SNVs=5) |
(# total SNVs=0) | (# total SNVs=1) |
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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 |
chr3:50338484-50338484 | p.E309K | 2 |
chr3:50339622-50339622 | p.G256R | 2 |
chr3:50340254-50340254 | p.E45G | 1 |
chr3:50338437-50338437 | p.W324* | 1 |
chr3:50339669-50339669 | p.R240H | 1 |
chr3:50339964-50339964 | p.D142N | 1 |
chr3:50337924-50337924 | p.S433N | 1 |
chr3:50340261-50340261 | p.C43R | 1 |
chr3:50338465-50338466 | p.A315fs*69 | 1 |
chr3:50339670-50339670 | p.R240C | 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 | 4 |   |   | 1 |   | 1 | 1 |   | 3 | 2 |   |   |   | 2 | 5 |   | 2 |
# mutation |   |   | 1 | 4 |   |   | 1 |   | 1 | 1 |   | 3 | 2 |   |   |   | 2 | 5 |   | 2 |
nonsynonymous SNV |   |   | 1 | 3 |   |   | 1 |   | 1 | 1 |   | 2 | 2 |   |   |   | 2 | 5 |   | 2 |
synonymous SNV |   |   |   | 1 |   |   |   |   |   |   |   | 1 |   |   |   |   |   |   |   |   |
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 |
chr3:50339712 | p.D142N,HYAL1 | 1 |
chr3:50340364 | p.A132T,HYAL1 | 1 |
chr3:50337931 | p.R401W,HYAL1 | 1 |
chr3:50339751 | p.E131G,HYAL1 | 1 |
chr3:50340387 | p.A116D,HYAL1 | 1 |
chr3:50337989 | p.Q381H,HYAL1 | 1 |
chr3:50339807 | p.A60V,HYAL1 | 1 |
chr3:50338003 | p.E377K,HYAL1 | 1 |
chr3:50339933 | p.E45G,HYAL1 | 1 |
chr3:50338046 | p.T362T,HYAL1 | 1 |
Other DBs for Point Mutations |
Copy Number for HYAL1 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 HYAL1 |
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 |
ABCG8,ACP5,ALG1L,ATP6V0D2,OCSTAMP,CHCHD10,CKB, CTSK,GALR2,GPR12,HCCAT5,HYAL1,NYAP2,KRT77, SLC9B2,PGLYRP3,PRB2,PTH2,SLC22A1,TMEM82,YBX2 | ACVRL1,CCM2L,CYSTM1,CLEC14A,ESAM,FAM127A,GJA4, HSPB2,HYAL1,ICAM2,INMT,KIF17,MMRN2,NDUFA4L2, NINJ2,PDE4A,ROBO4,TMEM88,VAMP5,ZBTB47,ZNF423 |
ABHD3,ALDH1L1,CASP7,ERN2,HYAL1,LDHD,LPCAT4, LRG1,MFSD2A,AP5M1,OCEL1,PIGR,RPS6KA1,SCAMP2, SLC35C1,SLC9A1,ST3GAL4,TMEM92,TNFSF13,TSPAN1,ZBTB7C | ACAN,C20orf141,NCOR1P1,BPIFA2,CLEC4G,SPATA31A2,GPX5, HYAL1,KPRP,LCE2C,LOC402644,MEPE,MTNR1B,CHODL-AS1, OR2D2,PCSK9,PGLYRP3,SNORA2A,SNORA79,TNFSF14,TRIM6-TRIM34, ZS |
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 HYAL1 |
There's no related Drug. |
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Cross referenced IDs for HYAL1 |
* 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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