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mutLBSgeneDB |
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| Gene summary for RIPK1 |
 Gene summary |
| Basic gene Info. | Gene symbol | RIPK1 |
| Gene name | receptor (TNFRSF)-interacting serine-threonine kinase 1 | |
| Synonyms | RIP|RIP1 | |
| Cytomap | UCSC genome browser: 6p25.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003804.3, | |
| Description | RIP-1cell death protein RIPreceptor interacting proteinreceptor-interacting protein 1receptor-interacting serine/threonine-protein kinase 1serine/threonine-protein kinase RIP | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603453 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000137275 | ||
| HPRD : 04583 | ||
| Vega : OTTHUMG00000014134 | ||
| Protein | UniProt: Q13546 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RIPK1 | |
| BioGPS: 8737 | ||
| Pathway | NCI Pathway Interaction Database: RIPK1 | |
| KEGG: RIPK1 | ||
| REACTOME: RIPK1 | ||
| Pathway Commons: RIPK1 | ||
| Context | iHOP: RIPK1 | |
| ligand binding site mutation search in PubMed: RIPK1 | ||
| UCL Cancer Institute: RIPK1 | ||
| 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:0032757 | positive regulation of interleukin-8 production | 16127453 | GO:0032760 | positive regulation of tumor necrosis factor production | 16127453 | GO:0036289 | peptidyl-serine autophosphorylation | 23473668 | GO:0043065 | positive regulation of apoptotic process | 17389591 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 17389591 | GO:0044257 | cellular protein catabolic process | 17389591 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 16127453 | GO:0046330 | positive regulation of JNK cascade | 17389591 | GO:0046777 | protein autophosphorylation | 8612133 | GO:0051260 | protein homooligomerization | 22817896 | GO:0071356 | cellular response to tumor necrosis factor | 17389591 | GO:0097191 | extrinsic apoptotic signaling pathway | 7538908 |
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| Ligand binding site mutations for RIPK1 |
| 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 | I43 | M42V | BLCA | 1 | L145 | D147N | BRCA | 1 | L129 | G131A | HNSC | 1 | V134,H136 | I135M | KIRC | 1 | E93 | E93V | UCEC | 1 | V134 | V134A | 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 RIPK1 |
| 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 | V134 | V134A | -1.2306515 | L129 | G131A | -1.0536621 | H136 | I135M | -1.0466818 | V134 | I135M | -1.0466818 | E93 | E93V | -0.90744204 | L145 | D147N | -0.59891168 | I43 | M42V | -0.50660478 |
| (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 RIPK1 from PDB |
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| Differential gene expression and gene-gene network for RIPK1 |
| 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 RIPK1 |
| 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 RIPK1 |
| 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 |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of RIPK1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | Q1A | 1-[4-(1-AMINOISOQUINOLIN-5-YL)PHENYL]-3-(5-TERT-BUTYL- 1,2-OXAZOL-3-YL)UREA | 4neu | A | I43 E93 L145 | Q1A | 1-[4-(1-AMINOISOQUINOLIN-5-YL)PHENYL]-3-(5-TERT-BUTYL- 1,2-OXAZOL-3-YL)UREA | 4neu | B | I43 E93 L145 | RCM | (5R)-5-[(7-CHLORO-1H-INDOL-3-YL)METHYL]-3- METHYLIMIDAZOLIDINE-2,4-DIONE | 4ith | B | L129 | 1HX | N-[(1S)-1-(2-CHLORO-6-FLUOROPHENYL)ETHYL]-5-CYANO-1- METHYL-1H-PYRROLE-2-CARBOXAMIDE | 4itj | B | L129 | RCM | (5R)-5-[(7-CHLORO-1H-INDOL-3-YL)METHYL]-3- METHYLIMIDAZOLIDINE-2,4-DIONE | 4ith | A | L129 H136 | 1HW | 1-{(3S,3AS)-3-[3-FLUORO-4-(TRIFLUOROMETHOXY)PHENYL]-8- METHOXY-3,3A,4,5-TETRAHYDRO-2H-BENZO[G]INDAZOL-2-YL}- 2-HYDROXYETHANONE | 4iti | A | V134 H136 | 1HW | 1-{(3S,3AS)-3-[3-FLUORO-4-(TRIFLUOROMETHOXY)PHENYL]-8- METHOXY-3,3A,4,5-TETRAHYDRO-2H-BENZO[G]INDAZOL-2-YL}- 2-HYDROXYETHANONE | 4iti | B | V134 H136 |
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| Conservation information for LBS of RIPK1 |
| Multiple alignments for Q13546 in multiple species |
| LBS | AA sequence | # species | Species |
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