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mutLBSgeneDB |
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| Gene summary for RTN4IP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | RTN4IP1 |
| Gene name | reticulon 4 interacting protein 1 | |
| Synonyms | NIMP | |
| Cytomap | UCSC genome browser: 6q21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_032730.4, | |
| Description | NOGO-interacting mitochondrial proteinreticulon-4-interacting protein 1, mitochondrial | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 610502 | |
| HGNC : HGNC | ||
| HPRD : 18008 | ||
| Protein | UniProt: Q8WWV3 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RTN4IP1 | |
| BioGPS: 84816 | ||
| Pathway | NCI Pathway Interaction Database: RTN4IP1 | |
| KEGG: RTN4IP1 | ||
| REACTOME: RTN4IP1 | ||
| Pathway Commons: RTN4IP1 | ||
| Context | iHOP: RTN4IP1 | |
| ligand binding site mutation search in PubMed: RTN4IP1 | ||
| UCL Cancer Institute: RTN4IP1 | ||
| 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 RTN4IP1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | F343 | M344V | HNSC | 1 | A387 | A387T | KIRC | 1 | V277 | G279V | LUAD | 1 | R388 | R388L | SKCM | 1 | G216 | G216R | STAD | 1 | A341 | R339H | 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 RTN4IP1 |
| 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 | A341 | R339H | -1.5245686 | G216 | G216R | -0.73488395 | R388 | R388L | -0.62166554 | V277 | G279V | -0.55755274 | F343 | M344V | -0.34396818 | A387 | A387T | -0.13076158 |
| (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 RTN4IP1 from PDB |
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| Differential gene expression and gene-gene network for RTN4IP1 |
| 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 RTN4IP1 |
| 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 RTN4IP1 |
| 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 RTN4IP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NDP | NADPH | 2vn8 | A | G216 V277 A341 F343 A387 R388 | NDP | NADPH | 2vn8 | B | G216 V277 A341 F343 A387 R388 |
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| Conservation information for LBS of RTN4IP1 |
| Multiple alignments for Q8WWV3 in multiple species |
| LBS | AA sequence | # species | Species | A341 | VHYRWAFFMAS | 3 | Homo sapiens, Mus musculus, Bos taurus | A341 | VHYRWGFFAPS | 1 | Danio rerio | A387 | VERGHARGKTV | 3 | Homo sapiens, Mus musculus, Bos taurus | A387 | VEQGHARGKTV | 1 | Danio rerio | F342 | HYRWAFFMASG | 3 | Homo sapiens, Mus musculus, Bos taurus | F342 | HYRWGFFAPSG | 1 | Danio rerio | F343 | YRWAFFMASGP | 3 | Homo sapiens, Mus musculus, Bos taurus | F343 | YRWGFFAPSGS | 1 | Danio rerio | G212 | RVLILGASGGV | 2 | Homo sapiens, Bos taurus | G212 | RVLILGGSGGV | 1 | Danio rerio | G212 | RALILGASGGV | 1 | Mus musculus | G215 | ILGASGGVGTF | 3 | Homo sapiens, Mus musculus, Bos taurus | G215 | ILGGSGGVGTF | 1 | Danio rerio | G216 | LGASGGVGTFA | 3 | Homo sapiens, Mus musculus, Bos taurus | G216 | LGGSGGVGTFA | 1 | Danio rerio | H386 | KVERGHARGKT | 3 | Homo sapiens, Mus musculus, Bos taurus | H386 | KVEQGHARGKT | 1 | Danio rerio | L300 | ATYVTLVTPFL | 3 | Homo sapiens, Mus musculus, Bos taurus | L300 | AKFVTLITPFL | 1 | Danio rerio | N276 | DFILDNVGGST | 3 | Homo sapiens, Mus musculus, Bos taurus | N276 | DLILDSIGGET | 1 | Danio rerio | P85 | AASVNPIDVNM | 2 | Homo sapiens, Mus musculus | P85 | AAGLNPIDISM | 1 | Danio rerio | P85 | AASINPIDVNM | 1 | Bos taurus | R388 | ERGHARGKTVI | 2 | Homo sapiens, Bos taurus | R388 | EQGHARGKTVV | 1 | Danio rerio | R388 | ERGHARGKTVV | 1 | Mus musculus | S214 | LILGASGGVGT | 3 | Homo sapiens, Mus musculus, Bos taurus | S214 | LILGGSGGVGT | 1 | Danio rerio | S237 | VTAVCSQDASE | 2 | Homo sapiens, Bos taurus | S237 | VTVTCSQNAER | 1 | Danio rerio | S237 | VTAVCSKDASE | 1 | Mus musculus | T187 | PYVALTAWSAI | 3 | Homo sapiens, Mus musculus, Bos taurus | T187 | PYVAATAWSAI | 1 | Danio rerio | V217 | GASGGVGTFAI | 3 | Homo sapiens, Mus musculus, Bos taurus | V217 | GGSGGVGTFAI | 1 | Danio rerio | V235 | AHVTAVCSQDA | 2 | Homo sapiens, Bos taurus | V235 | AHVTVTCSQNA | 1 | Danio rerio | V235 | AHVTAVCSKDA | 1 | Mus musculus | V277 | FILDNVGGSTE | 3 | Homo sapiens, Mus musculus, Bos taurus | V277 | LILDSIGGETE | 1 | Danio rerio | V301 | TYVTLVTPFLL | 3 | Homo sapiens, Mus musculus, Bos taurus | V301 | KFVTLITPFLQ | 1 | Danio rerio | Y183 | AASLPYVALTA | 3 | Homo sapiens, Mus musculus, Bos taurus | Y183 | AASIPYVAATA | 1 | Danio rerio | Y255 | DDVIDYKSGSV | 1 | Homo sapiens | Y255 | DDVVDYTAGPV | 1 | Danio rerio | Y255 | DEVIDYTLGSV | 1 | Mus musculus | Y255 | DDVIDYKSGNV | 1 | Bos taurus |
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