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mutLBSgeneDB |
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| Gene summary for RNASEH1 |
 Gene summary |
| Basic gene Info. | Gene symbol | RNASEH1 |
| Gene name | ribonuclease H1 | |
| Synonyms | H1RNA|RNH1 | |
| Cytomap | UCSC genome browser: 2p25 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001286834.1, NM_001286837.1,NM_002936.4, | |
| Description | RNase H1ribonuclease H type II | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604123 | |
| HGNC : HGNC | ||
| HPRD : 04989 | ||
| Protein | UniProt: O60930 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RNASEH1 | |
| BioGPS: 246243 | ||
| Pathway | NCI Pathway Interaction Database: RNASEH1 | |
| KEGG: RNASEH1 | ||
| REACTOME: RNASEH1 | ||
| Pathway Commons: RNASEH1 | ||
| Context | iHOP: RNASEH1 | |
| ligand binding site mutation search in PubMed: RNASEH1 | ||
| UCL Cancer Institute: RNASEH1 | ||
| 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:0006369 | termination of RNA polymerase II transcription | 21700224 | GO:0090502 | RNA phosphodiester bond hydrolysis, endonucleolytic | 21700224 |
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| Ligand binding site mutations for RNASEH1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S149 | R149I | BLCA | 1 | D51 | P51L | KIRC | 1 | Q183 | D184G | KIRC | 1 | W225 | Q226K | LUAD | 1 | C147 | G147C | LUAD | 1 | D51 | P51Q | LUAD | 1 | N240 | I242M | LUAD | 1 | Q183 | D184Y | LUAD | 1 | S211 | G209R | LUSC | 1 | D145 | P143S | SKCM | 1 | D145 | P143H | SKCM | 1 | M27 | R26Q | STAD | 1 | K59 | N59H | UCEC | 1 | I239 | S239A | 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 RNASEH1 |
| 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 |
| (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 RNASEH1 from PDB |
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| Differential gene expression and gene-gene network for RNASEH1 |
| 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 RNASEH1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for RNASEH1 |
| 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 RNASEH1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 2qkk | E | C147 S149 | CA | CALCIUM(2+) | 2qkk | A | D145 | CA | CALCIUM(2+) | 2qkk | A | D145 | CA | CALCIUM(2+) | 2qkk | B | D145 | CA | CALCIUM(2+) | 2qkk | E | D145 | CA | CALCIUM(2+) | 2qkk | E | D145 | CA | CALCIUM(2+) | 2qkk | F | D145 | CA | CALCIUM(2+) | 2qkk | I | D145 | CA | CALCIUM(2+) | 2qkk | J | D145 | CA | CALCIUM(2+) | 2qkk | M | D145 | CA | CALCIUM(2+) | 2qkk | M | D145 | CA | CALCIUM(2+) | 2qkk | N | D145 | CA | CALCIUM(2+) | 2qkk | R | D145 | CA | CALCIUM(2+) | 2qkk | S | D145 | CA | CALCIUM(2+) | 2qkk | W | D145 | NUC | Nucleic Acids | 2qk9 | A | D145 C147 | NUC | Nucleic Acids | 2qkb | A | D145 C147 | NUC | Nucleic Acids | 2qkb | B | D145 C147 S149 | NUC | Nucleic Acids | 2qkk | A | D145 C147 S149 | NUC | Nucleic Acids | 2qkk | R | D145 C147 S149 | NUC | Nucleic Acids | 2qkk | I | D145 C147 S149 S211 | NUC | Nucleic Acids | 2qkk | M | D145 C147 S211 | NUC | Nucleic Acids | 3bsu | A | D51 | NUC | Nucleic Acids | 3bsu | C | D51 | NUC | Nucleic Acids | 3bsu | G | D51 | NUC | Nucleic Acids | 3bsu | H | D51 | NUC | Nucleic Acids | 3bsu | A | K59 | NUC | Nucleic Acids | 3bsu | B | K59 | NUC | Nucleic Acids | 3bsu | F | K59 | NUC | Nucleic Acids | 3bsu | G | K59 | NUC | Nucleic Acids | 3bsu | H | K59 | NUC | Nucleic Acids | 3bsu | B | M27 D51 | NUC | Nucleic Acids | 2qk9 | A | Q183 W225 I239 N240 | NUC | Nucleic Acids | 2qkb | A | Q183 W225 I239 N240 | NUC | Nucleic Acids | 2qkb | B | Q183 W225 I239 N240 | NUC | Nucleic Acids | 2qkk | A | Q183 W225 I239 N240 | NUC | Nucleic Acids | 2qkk | B | Q183 W225 I239 N240 | NUC | Nucleic Acids | 2qkk | E | Q183 W225 I239 N240 | NUC | Nucleic Acids | 2qkk | F | Q183 W225 I239 N240 | NUC | Nucleic Acids | 2qkk | I | Q183 W225 I239 N240 | NUC | Nucleic Acids | 2qkk | J | Q183 W225 I239 N240 | NUC | Nucleic Acids | 2qkk | M | Q183 W225 I239 N240 | NUC | Nucleic Acids | 2qkk | N | Q183 W225 I239 N240 | NUC | Nucleic Acids | 2qkk | R | Q183 W225 I239 N240 | NUC | Nucleic Acids | 2qkk | S | Q183 W225 I239 N240 | NUC | Nucleic Acids | 2qkk | W | Q183 W225 I239 N240 |
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| Conservation information for LBS of RNASEH1 |
| Multiple alignments for O60930 in multiple species |
| LBS | AA sequence | # species | Species |
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