|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for HDC |
 Gene summary |
| Basic gene Info. | Gene symbol | HDC |
| Gene name | histidine decarboxylase | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 15q21.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002112.3, | |
| Description | - | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 142704 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000140287 | ||
| HPRD : 00817 | ||
| Vega : OTTHUMG00000131644 | ||
| Protein | UniProt: P19113 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HDC | |
| BioGPS: 3067 | ||
| Pathway | NCI Pathway Interaction Database: HDC | |
| KEGG: HDC | ||
| REACTOME: HDC | ||
| Pathway Commons: HDC | ||
| Context | iHOP: HDC | |
| ligand binding site mutation search in PubMed: HDC | ||
| UCL Cancer Institute: HDC | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0001694 | histamine biosynthetic process | 22767596 | GO:0006548 | histidine catabolic process | 22767596 |
| Top |
| Ligand binding site mutations for HDC |
| 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. |
 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D273 | D273N | COAD | 1 | T149 | T149M | COAD | 1 | T248,G246 | T247N | LUSC | 1 | S354 | S354G | STAD | 1 | D273 | D273N | 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. |
| Top |
| Protein structure related information for HDC |
| 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 |
 |
| 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 | T248 | T247N | -1.4720251 | G246 | T247N | -1.4720251 | D273 | D273N | -1.0529917 | S354 | S354G | -0.7686071 | T149 | T149M | -0.20091001 |
| (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 HDC from PDB |
| Top |
| Differential gene expression and gene-gene network for HDC |
| 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) |
| Top |
| Top |
| Phenotype information for HDC |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0040517 | Tourette Syndrome | 3 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for HDC |
| 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. |
 |
| Gene-centered drug-gene interaction network |
 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Nutraceutical | DB00114 | Pyridoxal Phosphate | Small molecule |  |
| Approved|nutraceutical | DB00117 | L-Histidine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of HDC go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PLP | PYRIDOXAL 5'-PHOSPHATE | 4e1o | A | S354 | PVH | METHYL L-HISTIDINATE | 4e1o | A | S354 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4e1o | B | S354 | PVH | METHYL L-HISTIDINATE | 4e1o | B | S354 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4e1o | C | S354 | PVH | METHYL L-HISTIDINATE | 4e1o | C | S354 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4e1o | D | S354 | PVH | METHYL L-HISTIDINATE | 4e1o | D | S354 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4e1o | E | S354 | PVH | METHYL L-HISTIDINATE | 4e1o | E | S354 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4e1o | F | S354 | PVH | METHYL L-HISTIDINATE | 4e1o | F | S354 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4e1o | A | T149 G246 T248 D273 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4e1o | B | T149 G246 T248 D273 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4e1o | C | T149 G246 T248 D273 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4e1o | D | T149 G246 T248 D273 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4e1o | E | T149 G246 T248 D273 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4e1o | F | T149 G246 T248 D273 | PVH | METHYL L-HISTIDINATE | 4e1o | A | T248 | PVH | METHYL L-HISTIDINATE | 4e1o | B | T248 | PVH | METHYL L-HISTIDINATE | 4e1o | C | T248 | PVH | METHYL L-HISTIDINATE | 4e1o | D | T248 | PVH | METHYL L-HISTIDINATE | 4e1o | E | T248 | PVH | METHYL L-HISTIDINATE | 4e1o | F | T248 |
| Top |
| Conservation information for LBS of HDC |
| Multiple alignments for P19113 in multiple species |
| LBS | AA sequence | # species | Species | A275 | LHIDAAYAGTA | 2 | Homo sapiens, Bos taurus | A275 | LHVDAAYAGSA | 1 | Drosophila melanogaster | A275 | LHVDAAYAGTA | 1 | Mus musculus | D273 | LWLHIDAAYAG | 2 | Homo sapiens, Bos taurus | D273 | LWLHVDAAYAG | 2 | Drosophila melanogaster, Mus musculus | F104 | INCLGFTWASS | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | G246 | VCATLGTTGVC | 3 | Homo sapiens, Mus musculus, Bos taurus | G246 | VCATLGTTGSC | 1 | Drosophila melanogaster | H194 | ASDQAHSSVEK | 2 | Homo sapiens, Bos taurus | H194 | CSDQAHSSVEK | 1 | Drosophila melanogaster | H194 | TSDQAHSSVEK | 1 | Mus musculus | I436 | GRLFLIPATIQ | 2 | Homo sapiens, Bos taurus | I436 | GNLHCIPSSLK | 1 | Drosophila melanogaster | I436 | GQLFLIPATIQ | 1 | Mus musculus | K305 | TFNPSKWMMVH | 3 | Homo sapiens, Mus musculus, Bos taurus | K305 | AFNPSKWLMVH | 1 | Drosophila melanogaster | L102 | DAINCLGFTWA | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | L335 | VNPIYLRHANS | 2 | Homo sapiens, Mus musculus | L335 | VEPLYLQHENS | 1 | Drosophila melanogaster | L335 | VDPVYLRHADS | 1 | Bos taurus | L353 | HWQIPLSRRFR | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | N302 | DSFTFNPSKWM | 3 | Homo sapiens, Mus musculus, Bos taurus | N302 | DSIAFNPSKWL | 1 | Drosophila melanogaster | P82 | MHAYYPALTSW | 3 | Homo sapiens, Mus musculus, Bos taurus | P82 | MHAYFPALNSM | 1 | Drosophila melanogaster | S151 | LQSTVSESTLI | 3 | Homo sapiens, Mus musculus, Bos taurus | S151 | LQTTASEATLV | 1 | Drosophila melanogaster | S354 | WQIPLSRRFRS | 3 | Homo sapiens, Mus musculus, Bos taurus | S354 | WQIPLSRRFRA | 1 | Drosophila melanogaster | T149 | GVLQSTVSEST | 3 | Homo sapiens, Mus musculus, Bos taurus | T149 | GVLQTTASEAT | 1 | Drosophila melanogaster | T248 | ATLGTTGVCAF | 3 | Homo sapiens, Mus musculus, Bos taurus | T248 | ATLGTTGSCSF | 1 | Drosophila melanogaster | V150 | VLQSTVSESTL | 3 | Homo sapiens, Mus musculus, Bos taurus | V150 | VLQTTASEATL | 1 | Drosophila melanogaster | W72 | PGVVHWQSPHM | 3 | Homo sapiens, Mus musculus, Bos taurus | W72 | PGITHWQSPHM | 1 | Drosophila melanogaster | Y334 | SVNPIYLRHAN | 2 | Homo sapiens, Mus musculus | Y334 | NVEPLYLQHEN | 1 | Drosophila melanogaster | Y334 | SVDPVYLRHAD | 1 | Bos taurus | Y80 | PHMHAYYPALT | 3 | Homo sapiens, Mus musculus, Bos taurus | Y80 | PHMHAYFPALN | 1 | Drosophila melanogaster | Y81 | HMHAYYPALTS | 3 | Homo sapiens, Mus musculus, Bos taurus | Y81 | HMHAYFPALNS | 1 | Drosophila melanogaster |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |