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mutLBSgeneDB |
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| Gene summary for NSUN4 |
 Gene summary |
| Basic gene Info. | Gene symbol | NSUN4 |
| Gene name | NOP2/Sun domain family, member 4 | |
| Synonyms | SHTAP | |
| Cytomap | UCSC genome browser: 1p34 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001256127.1, NM_001256128.1,NM_199044.3,NR_045789.1,NR_045790.1, NR_045791.1, | |
| Description | 5-methylcytosine rRNA methyltransferase NSUN4NOL1/NOP2/Sun domain family member 4putative methyltransferase NSUN4sperm head and tail associated protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 615394 | |
| HGNC : HGNC | ||
| HPRD : 14842 | ||
| Protein | UniProt: Q96CB9 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NSUN4 | |
| BioGPS: 387338 | ||
| Pathway | NCI Pathway Interaction Database: NSUN4 | |
| KEGG: NSUN4 | ||
| REACTOME: NSUN4 | ||
| Pathway Commons: NSUN4 | ||
| Context | iHOP: NSUN4 | |
| ligand binding site mutation search in PubMed: NSUN4 | ||
| UCL Cancer Institute: NSUN4 | ||
| 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:0031167 | rRNA methylation | 23022348 |
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| Ligand binding site mutations for NSUN4 |
| 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 | P184 | P184S | LUSC | 1 | V256 | V256A | 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 NSUN4 |
| 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 | V256 | V256A | -2.0070709 | P184 | P184S | -0.94431425 |
| (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 NSUN4 from PDB |
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| Differential gene expression and gene-gene network for NSUN4 |
| 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 NSUN4 |
| 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 NSUN4 |
| 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 NSUN4 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SAM | S-ADENOSYL-L-METHIONINE | 4fp9 | A | P184 V256 | SAM | S-ADENOSYL-L-METHIONINE | 4fp9 | C | P184 V256 | SAM | S-ADENOSYL-L-METHIONINE | 4fp9 | D | P184 V256 | SAM | S-ADENOSYL-L-METHIONINE | 4fp9 | F | P184 V256 | SAM | S-ADENOSYL-L-METHIONINE | 4fzv | A | V256 |
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| Conservation information for LBS of NSUN4 |
| Multiple alignments for Q96CB9 in multiple species |
| LBS | AA sequence | # species | Species | A182 | VLDLCAAPGGK | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | A183 | LDLCAAPGGKT | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | C181 | TVLDLCAAPGG | 2 | Bos taurus, Mus musculus | C181 | IVLDLCAAPGG | 1 | Homo sapiens | C181 | SVLDLCAAPGG | 1 | Xenopus tropicalis | D204 | NLAANDLSTSR | 2 | Bos taurus, Mus musculus | D204 | NLAANDLSPSR | 1 | Homo sapiens | D204 | YLAANDLSTSR | 1 | Xenopus tropicalis | D237 | RVTSWDGRKWG | 3 | Homo sapiens, Bos taurus, Mus musculus | D237 | CITSQDGRLWG | 1 | Xenopus tropicalis | D255 | DRVLVDVPCTT | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | G185 | LCAAPGGKTLA | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | G186 | CAAPGGKTLAL | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | G238 | VTSWDGRKWGE | 3 | Homo sapiens, Bos taurus, Mus musculus | G238 | ITSQDGRLWGD | 1 | Xenopus tropicalis | K187 | AAPGGKTLALL | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | L180 | DTVLDLCAAPG | 2 | Bos taurus, Mus musculus | L180 | DIVLDLCAAPG | 1 | Homo sapiens | L180 | HSVLDLCAAPG | 1 | Xenopus tropicalis | L205 | LAANDLSTSRT | 2 | Bos taurus, Mus musculus | L205 | LAANDLSPSRI | 1 | Homo sapiens | L205 | LAANDLSTSRS | 1 | Xenopus tropicalis | L291 | VLQVQLLAAGL | 2 | Homo sapiens, Bos taurus | L291 | LLQAELLVAGL | 1 | Xenopus tropicalis | L291 | MLQVQLLAAGL | 1 | Mus musculus | N203 | RNLAANDLSTS | 2 | Bos taurus, Mus musculus | N203 | RNLAANDLSPS | 1 | Homo sapiens | N203 | QYLAANDLSTS | 1 | Xenopus tropicalis | P184 | DLCAAPGGKTL | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | P257 | VLVDVPCTTDR | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus | R209 | DLSPSRIARLQ | 1 | Homo sapiens | R209 | DLSTSRSSRLH | 1 | Xenopus tropicalis | R209 | DLSTSRTSRLQ | 1 | Bos taurus | R209 | DLSTSRTGRLQ | 1 | Mus musculus | S206 | AANDLSPSRIA | 1 | Homo sapiens | S206 | AANDLSTSRSS | 1 | Xenopus tropicalis | S206 | AANDLSTSRTS | 1 | Bos taurus | S206 | AANDLSTSRTG | 1 | Mus musculus | V256 | RVLVDVPCTTD | 4 | Homo sapiens, Xenopus tropicalis, Bos taurus, Mus musculus |
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