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mutLBSgeneDB |
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| Gene summary for HTRA1 |
 Gene summary |
| Basic gene Info. | Gene symbol | HTRA1 |
| Gene name | HtrA serine peptidase 1 | |
| Synonyms | ARMD7|CARASIL|HtrA|L56|ORF480|PRSS11 | |
| Cytomap | UCSC genome browser: 10q26.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002775.4, | |
| Description | IGFBP5-proteasehigh-temperature requirement A serine peptidase 1protease, serine, 11 (IGF binding)serine protease HTRA1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 602194 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000166033 | ||
| HPRD : 03725 | ||
| Vega : OTTHUMG00000019186 | ||
| Protein | UniProt: Q92743 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HTRA1 | |
| BioGPS: 5654 | ||
| Pathway | NCI Pathway Interaction Database: HTRA1 | |
| KEGG: HTRA1 | ||
| REACTOME: HTRA1 | ||
| Pathway Commons: HTRA1 | ||
| Context | iHOP: HTRA1 | |
| ligand binding site mutation search in PubMed: HTRA1 | ||
| UCL Cancer Institute: HTRA1 | ||
| 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 |
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| Ligand binding site mutations for HTRA1 |
| 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 | R386 | R386Q | BRCA | 1 | T391 | S393R | LUSC | 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 HTRA1 |
| 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 | R386 | R386Q | -1.0240688 | T391 | S393R | -0.53302658 |
| (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 HTRA1 from PDB |
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| Differential gene expression and gene-gene network for HTRA1 |
| 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 HTRA1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1838577 | Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy | 6 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for HTRA1 |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HTRA1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ASP,SER,ARG,ILE,TRP,TRP,VAL) | 2joa | A | R386 T391 |
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| Conservation information for LBS of HTRA1 |
| Multiple alignments for Q92743 in multiple species |
| LBS | AA sequence | # species | Species | A445 | QSVVTANDVSD | 2 | Mus musculus, Rattus norvegicus | A445 | QSVVSANDVSD | 1 | Homo sapiens | A445 | KSVTSSSDVSD | 1 | Xenopus tropicalis | A445 | QRISTATDVSA | 1 | Danio rerio | A445 | QRITSASDVST | 1 | Danio rerio | G326 | AIINYGNSGGP | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | G384 | KKKYIGIRMMS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G384 | KKKYLGIRMMS | 1 | Xenopus tropicalis | G384 | KKRYIGVRMMT | 1 | Danio rerio | G384 | KKKYIGVRMMT | 1 | Danio rerio | H220 | IVTNAHVVTNK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H220 | IVTNAHVVANK | 2 | Danio rerio, Danio rerio | H220 | ILTNAHVVTNK | 1 | Xenopus tropicalis | I383 | TKKKYIGIRMM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I383 | KKKKYLGIRMM | 1 | Xenopus tropicalis | I383 | TKKRYIGVRMM | 1 | Danio rerio | I383 | TKKKYIGVRMM | 1 | Danio rerio | I385 | KKYIGIRMMSL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I385 | KKYLGIRMMSL | 1 | Xenopus tropicalis | I385 | KRYIGVRMMTL | 1 | Danio rerio | I385 | KKYIGVRMMTL | 1 | Danio rerio | I415 | SGAYIIEVIPD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I415 | SGAYIVEVIPD | 1 | Xenopus tropicalis | I415 | SGAYVIEVISK | 1 | Danio rerio | I415 | SGAYVIEVIPK | 1 | Danio rerio | I418 | YIIEVIPDTPA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I418 | YIVEVIPDTPA | 1 | Xenopus tropicalis | I418 | YVIEVISKTPA | 1 | Danio rerio | I418 | YVIEVIPKTPA | 1 | Danio rerio | I452 | DVSDVIKKE-N | 2 | Mus musculus, Rattus norvegicus | I452 | DVSDVIKRE-S | 1 | Homo sapiens | I452 | DVSDAIKKEGT | 1 | Xenopus tropicalis | I452 | DVSAIIKKE-S | 1 | Danio rerio | I452 | DVSTAIKTD-E | 1 | Danio rerio | K346 | GINTLKVTAGI | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | K381 | AITKKKYIGIR | 1 | Homo sapiens | K381 | GTKKKKYLGIR | 1 | Xenopus tropicalis | K381 | AVTKKKYIGIR | 1 | Mus musculus | K381 | TVTKKKYIGIR | 1 | Rattus norvegicus | K381 | GTTKKRYIGVR | 1 | Danio rerio | K381 | TATKKKYIGVR | 1 | Danio rerio | L309 | GKELGLRNSDM | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | L345 | IGINTLKVTAG | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | M387 | YIGIRMMSLTS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M387 | YIGVRMMTLTP | 2 | Danio rerio, Danio rerio | M387 | YLGIRMMSLSQ | 1 | Xenopus tropicalis | M388 | IGIRMMSLTSS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M388 | LGIRMMSLSQG | 1 | Xenopus tropicalis | M388 | IGVRMMTLTPS | 1 | Danio rerio | M388 | IGVRMMTLTPT | 1 | Danio rerio | N324 | TDAIINYGNSG | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | N327 | IINYGNSGGPL | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | N446 | SVVTANDVSDV | 2 | Mus musculus, Rattus norvegicus | N446 | SVVSANDVSDV | 1 | Homo sapiens | N446 | SVTSSSDVSDA | 1 | Xenopus tropicalis | N446 | RISTATDVSAI | 1 | Danio rerio | N446 | RITSASDVSTA | 1 | Danio rerio | R386 | KYIGIRMMSLT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R386 | KYLGIRMMSLS | 1 | Xenopus tropicalis | R386 | RYIGVRMMTLT | 1 | Danio rerio | R386 | KYIGVRMMTLT | 1 | Danio rerio | S328 | INYGNSGGPLV | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | S389 | GIRMMSLTSSK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S389 | GIRMMSLSQGK | 1 | Xenopus tropicalis | S389 | GVRMMTLTPSL | 1 | Danio rerio | S389 | GVRMMTLTPTL | 1 | Danio rerio | S449 | TANDVSDVIKK | 2 | Mus musculus, Rattus norvegicus | S449 | SANDVSDVIKR | 1 | Homo sapiens | S449 | SSSDVSDAIKK | 1 | Xenopus tropicalis | S449 | TATDVSAIIKK | 1 | Danio rerio | S449 | SASDVSTAIKT | 1 | Danio rerio | T344 | VIGINTLKVTA | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | T391 | RMMSLTSSKAK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T391 | RMMSLSQGKLK | 1 | Xenopus tropicalis | T391 | RMMTLTPSLSK | 1 | Danio rerio | T391 | RMMTLTPTLAK | 1 | Danio rerio | Y325 | DAIINYGNSGG | 6 | Homo sapiens, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Danio rerio, Danio rerio | Y382 | VTKKKYIGIRM | 2 | Mus musculus, Rattus norvegicus | Y382 | ITKKKYIGIRM | 1 | Homo sapiens | Y382 | TKKKKYLGIRM | 1 | Xenopus tropicalis | Y382 | TTKKRYIGVRM | 1 | Danio rerio | Y382 | ATKKKYIGVRM | 1 | Danio rerio |
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