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mutLBSgeneDB |
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| Gene summary for ASPH |
 Gene summary |
| Basic gene Info. | Gene symbol | ASPH |
| Gene name | aspartate beta-hydroxylase | |
| Synonyms | AAH|BAH|CASQ2BP1|FDLAB|HAAH|JCTN|junctin | |
| Cytomap | UCSC genome browser: 8q12.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001164750.1, NM_001164751.1,NM_001164752.1,NM_001164753.1,NM_001164754.1, NM_001164755.1,NM_001164756.1,NM_004318.3,NM_020164.4, NM_032466.3,NM_032467.3,NM_032468.4, | |
| Description | A beta H-J-JASP beta-hydroxylaseaspartyl/asparaginyl beta-hydroxylaseaspartyl/asparaginyl-beta-hydroxylasecardiac junctinhumbugjunctatepeptide-aspartate beta-dioxygenase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600582 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000198363 | ||
| HPRD : 08996 | ||
| Vega : OTTHUMG00000164375 | ||
| Protein | UniProt: Q12797 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ASPH | |
| BioGPS: 444 | ||
| Pathway | NCI Pathway Interaction Database: ASPH | |
| KEGG: ASPH | ||
| REACTOME: ASPH | ||
| Pathway Commons: ASPH | ||
| Context | iHOP: ASPH | |
| ligand binding site mutation search in PubMed: ASPH | ||
| UCL Cancer Institute: ASPH | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0010524 | positive regulation of calcium ion transport into cytosol | 21062895 | GO:0031585 | regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity | 21062895 | GO:0032237 | activation of store-operated calcium channel activity | 22586105 | GO:0033198 | response to ATP | 21062895 | GO:0045862 | positive regulation of proteolysis | 18387192 | GO:0070588 | calcium ion transmembrane transport | 21062895 | GO:0071277 | cellular response to calcium ion | 21062895 | GO:0090316 | positive regulation of intracellular protein transport | 22586105 | GO:0097202 | activation of cysteine-type endopeptidase activity | 18387192 |
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| Ligand binding site mutations for ASPH |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H725 | E726D | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, 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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| Protein structure related information for ASPH |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | H725 | E726D | -0.65857284 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for ASPH from PDB |
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| Differential gene expression and gene-gene network for ASPH |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for ASPH |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1832167 | Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism | 1 | GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ASPH |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|nutraceutical | DB00128 | L-Aspartic Acid | Small molecule |  |
| Approved|nutraceutical | DB00139 | Succinic acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ASPH go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of ASPH |
| Multiple alignments for Q12797 in multiple species |
| LBS | AA sequence | # species | Species | H679 | THVWPHTGPTN | 3 | Homo sapiens, Bos taurus, Mus musculus | H725 | DDSFEHEVWQD | 3 | Homo sapiens, Bos taurus, Mus musculus |
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