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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ALDH7A1 |
Basic gene info. | Gene symbol | ALDH7A1 |
Gene name | aldehyde dehydrogenase 7 family, member A1 | |
Synonyms | ATQ1|EPD|PDE | |
Cytomap | UCSC genome browser: 5q31 | |
Genomic location | chr5 :125877532-125931082 | |
Type of gene | protein-coding | |
RefGenes | NM_001182.4, NM_001201377.1,NM_001202404.1, | |
Ensembl id | ENSG00000164904 | |
Description | 26g turgor protein homologP6c dehydrogenasealpha-AASA dehydrogenasealpha-aminoadipic semialdehyde dehydrogenaseantiquitin-1betaine aldehyde dehydrogenasedelta1-piperideine-6-carboxylate dehydrogenase | |
Modification date | 20141219 | |
dbXrefs | MIM : 107323 | |
HGNC : HGNC | ||
Ensembl : ENSG00000164904 | ||
HPRD : 00124 | ||
Vega : OTTHUMG00000128942 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ALDH7A1 | |
BioGPS: 501 | ||
Gene Expression Atlas: ENSG00000164904 | ||
The Human Protein Atlas: ENSG00000164904 | ||
Pathway | NCI Pathway Interaction Database: ALDH7A1 | |
KEGG: ALDH7A1 | ||
REACTOME: ALDH7A1 | ||
ConsensusPathDB | ||
Pathway Commons: ALDH7A1 | ||
Metabolism | MetaCyc: ALDH7A1 | |
HUMANCyc: ALDH7A1 | ||
Regulation | Ensembl's Regulation: ENSG00000164904 | |
miRBase: chr5 :125,877,532-125,931,082 | ||
TargetScan: NM_001182 | ||
cisRED: ENSG00000164904 | ||
Context | iHOP: ALDH7A1 | |
cancer metabolism search in PubMed: ALDH7A1 | ||
UCL Cancer Institute: ALDH7A1 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for ALDH7A1(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: ALDH7A1 |
Familial Cancer Database: ALDH7A1 |
* 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 | |
KEGG_GLYCOLYSIS_GLUCONEOGENESIS KEGG_ASCORBATE_AND_ALDARATE_METABOLISM KEGG_FATTY_ACID_METABOLISM KEGG_ARGININE_AND_PROLINE_METABOLISM KEGG_HISTIDINE_METABOLISM KEGG_TRYPTOPHAN_METABOLISM KEGG_BETA_ALANINE_METABOLISM KEGG_GLYCEROLIPID_METABOLISM KEGG_PYRUVATE_METABOLISM KEGG_PROPANOATE_METABOLISM KEGG_BUTANOATE_METABOLISM REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES |
Mutations for ALDH7A1 |
* 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 |
- Statistics for Tissue and Mutation type | Top |
- For Inter-chromosomal Variations |
There's no inter-chromosomal structural variation. |
- 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'. |
Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
ovary | ALDH7A1 | chr5 | 125879283 | 125879303 | ALDH7A1 | chr5 | 125883820 | 125883840 |
prostate | ALDH7A1 | chr5 | 125897310 | 125899310 | chr19 | 31950513 | 31952513 |
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) |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ALDH7A1 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 |
BQ649564 | ALDH7A1 | 1 | 483 | 5 | 125918562 | 125930875 | MRPS15 | 478 | 553 | 1 | 36921372 | 36921447 | |
BF821670 | ALDH7A1 | 128 | 183 | 5 | 125900813 | 125900868 | MALAT1 | 182 | 483 | 11 | 65267822 | 65268123 | |
AA165440 | ALDH7A1 | 1 | 425 | 5 | 125880448 | 125885898 | UBAP1 | 418 | 547 | 9 | 34224507 | 34224641 | |
BG434132 | LOC100505876 | 23 | 237 | 2 | 37426845 | 37428837 | ALDH7A1 | 224 | 647 | 5 | 125899506 | 125899926 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | 1 | |||
GAIN (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
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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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=23) | (# total SNVs=12) |
(# 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 |
chr5:125912844-125912844 | p.A165T | 2 |
chr5:125930689-125930689 | p.? | 2 |
chr5:125887819-125887819 | p.R376H | 2 |
chr5:125930750-125930750 | p.L19L | 2 |
chr5:125887820-125887820 | p.R376C | 2 |
chr5:125903997-125903997 | p.S247S | 1 |
chr5:125885926-125885926 | p.I431M | 1 |
chr5:125919662-125919662 | p.D91N | 1 |
chr5:125891653-125891653 | p.A327T | 1 |
chr5:125904008-125904008 | p.F244L | 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 |   |   |   | 12 |   |   | 2 |   |   |   |   | 4 | 3 | 1 |   |   | 11 | 3 |   | 3 |
# mutation |   |   |   | 11 |   |   | 2 |   |   |   |   | 4 | 3 | 1 |   |   | 10 | 3 |   | 3 |
nonsynonymous SNV |   |   |   | 7 |   |   | 2 |   |   |   |   | 3 | 1 | 1 |   |   | 9 | 3 |   | 2 |
synonymous SNV |   |   |   | 4 |   |   |   |   |   |   |   | 1 | 2 |   |   |   | 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 |
chr5:125887819 | p.R367C,ALDH7A1 | 2 |
chr5:125887820 | p.A305A,ALDH7A1 | 2 |
chr5:125895025 | p.A305S,ALDH7A1 | 2 |
chr5:125896775 | p.R367H,ALDH7A1 | 2 |
chr5:125912887 | p.N205K,ALDH7A1 | 1 |
chr5:125887732 | p.A355T,ALDH7A1 | 1 |
chr5:125896802 | p.I190F,ALDH7A1 | 1 |
chr5:125918566 | p.V346A,ALDH7A1 | 1 |
chr5:125887746 | p.L178L,ALDH7A1 | 1 |
chr5:125896808 | p.A333A,ALDH7A1 | 1 |
Other DBs for Point Mutations |
Copy Number for ALDH7A1 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 ALDH7A1 |
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 |
AACS,ALDH7A1,ALOX15B,ATP13A4,C15orf43,CLDN8,CTNNBIP1, DBI,FKBP5,GRAMD3,HIBCH,MCCC1,MVK,OXER1, SAMM50,SCP2,SERHL2,SLCO1B1,SRP19,UGT2B28,WLS | AHCY,ALDH7A1,ASTN2,C1orf226,CHRNB2,EDN3,EMILIN3, FZD1,GNG7,HS6ST2,KIAA1324,LPAR3,LZTS1,NIPSNAP1, NOS1AP,PSRC1,PTK7,SMPDL3B,ST8SIA2,TRIM9,UTP14A | ||||
AADAT,ACAT1,ALDH2,ALDH7A1,LINC01184,HARS2,HSD17B4, IDH1,LMNB1,MCCC2,ME3,MRPS27,NFIA,NLN, PHAX,QDPR,RIOK2,SAMM50,SETMAR,SLC12A2,VWA2 | ALDH6A1,ALDH7A1,ARL6IP1,APMAP,FGGY,GJB1,HADH, HSDL2,IGFBP2,LRPPRC,MCCC1,MIPEP,MLYCD,PCCA, ECI2,PHKB,RPUSD2,RRM2B,SUCLG2,THNSL1,WARS2 |
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 ALDH7A1 |
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 |
DB00157 | aldehyde dehydrogenase 7 family, member A1 | approved; nutraceutical | NADH | ||
DB00165 | aldehyde dehydrogenase 7 family, member A1 | approved; nutraceutical | Pyridoxine | ||
DB00515 | aldehyde dehydrogenase 7 family, member A1 | approved | Cisplatin |
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Cross referenced IDs for ALDH7A1 |
* 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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