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mutLBSgeneDB |
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| Gene summary for SNRNP70 |
 Gene summary |
| Basic gene Info. | Gene symbol | SNRNP70 |
| Gene name | small nuclear ribonucleoprotein 70kDa (U1) | |
| Synonyms | RNPU1Z|RPU1|SNRP70|Snp1|U1-70K|U170K|U1AP|U1RNP | |
| Cytomap | UCSC genome browser: 19q13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001009820.1, NM_001301069.1,NM_003089.5, | |
| Description | U1 small nuclear ribonucleoprotein 70 kDaU1 snRNP 70 kDa | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 180740 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000104852 | ||
| HPRD : 01617 | ||
| Vega : OTTHUMG00000183344 | ||
| Protein | UniProt: P08621 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SNRNP70 | |
| BioGPS: 6625 | ||
| Pathway | NCI Pathway Interaction Database: SNRNP70 | |
| KEGG: SNRNP70 | ||
| REACTOME: SNRNP70 | ||
| Pathway Commons: SNRNP70 | ||
| Context | iHOP: SNRNP70 | |
| ligand binding site mutation search in PubMed: SNRNP70 | ||
| UCL Cancer Institute: SNRNP70 | ||
| 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:0000398 | mRNA splicing, via spliceosome | 9531537 |
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| Ligand binding site mutations for SNRNP70 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | M67 | E65G | COAD | 1 | N96 | N96S | KIRC | 1 | W89 | P91R | LUAD | 1 | R191 | R191W | 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 SNRNP70 |
| 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 | M67 | E65G | -1.4496491 | W89 | P91R | -1.2060691 | R191 | R191W | -0.98843728 | N96 | N96S | -0.82382866 |
| (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 SNRNP70 from PDB |
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| Differential gene expression and gene-gene network for SNRNP70 |
| 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 SNRNP70 |
| 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 SNRNP70 |
| 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 SNRNP70 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of SNRNP70 |
| Multiple alignments for P08621 in multiple species |
| LBS | AA sequence | # species | Species | A108 | KTLFVARVNYD | 3 | Homo sapiens, Mus musculus, Bos taurus | A97 | HNDPNAQGDAF | 3 | Homo sapiens, Mus musculus, Bos taurus | D177 | RRVLVDVERGR | 3 | Homo sapiens, Mus musculus, Bos taurus | D94 | WDPHNDPNAQG | 3 | Homo sapiens, Mus musculus, Bos taurus | E179 | VLVDVERGRTV | 3 | Homo sapiens, Mus musculus, Bos taurus | E26 | YLPPLEKLPHE | 3 | Homo sapiens, Mus musculus, Bos taurus | F106 | AFKTLFVARVN | 3 | Homo sapiens, Mus musculus, Bos taurus | F148 | PRGYAFIEYEH | 3 | Homo sapiens, Mus musculus, Bos taurus | G181 | VDVERGRTVKG | 3 | Homo sapiens, Mus musculus, Bos taurus | G193 | RPRRLGGGLGG | 3 | Homo sapiens, Mus musculus, Bos taurus | G197 | LGGGLGGTRRG | 3 | Homo sapiens, Mus musculus, Bos taurus | G40 | NQPYCGIAPYI | 3 | Homo sapiens, Mus musculus, Bos taurus | H133 | PIKRIHMVYSK | 3 | Homo sapiens, Mus musculus, Bos taurus | H34 | PHEKHHNQPYC | 3 | Homo sapiens, Mus musculus, Bos taurus | K138 | HMVYSKRSGKP | 3 | Homo sapiens, Mus musculus, Bos taurus | K32 | KLPHEKHHNQP | 3 | Homo sapiens, Mus musculus, Bos taurus | K74 | RKRREKIERRQ | 3 | Homo sapiens, Mus musculus, Bos taurus | L175 | DGRRVLVDVER | 3 | Homo sapiens, Mus musculus, Bos taurus | L196 | RLGGGLGGTRR | 3 | Homo sapiens, Mus musculus, Bos taurus | L86 | EVETELKMWDP | 3 | Homo sapiens, Mus musculus, Bos taurus | M67 | TREERMERKRR | 3 | Homo sapiens, Mus musculus, Bos taurus | N111 | FVARVNYDTTE | 3 | Homo sapiens, Mus musculus, Bos taurus | N35 | HEKHHNQPYCG | 3 | Homo sapiens, Mus musculus, Bos taurus | N96 | PHNDPNAQGDA | 3 | Homo sapiens, Mus musculus, Bos taurus | P189 | VKGWRPRRLGG | 3 | Homo sapiens, Mus musculus, Bos taurus | Q36 | EKHHNQPYCGI | 3 | Homo sapiens, Mus musculus, Bos taurus | R109 | TLFVARVNYDT | 3 | Homo sapiens, Mus musculus, Bos taurus | R139 | MVYSKRSGKPR | 3 | Homo sapiens, Mus musculus, Bos taurus | R144 | RSGKPRGYAFI | 3 | Homo sapiens, Mus musculus, Bos taurus | R172 | KKIDGRRVLVD | 3 | Homo sapiens, Mus musculus, Bos taurus | R180 | LVDVERGRTVK | 3 | Homo sapiens, Mus musculus, Bos taurus | R190 | KGWRPRRLGGG | 3 | Homo sapiens, Mus musculus, Bos taurus | R191 | GWRPRRLGGGL | 3 | Homo sapiens, Mus musculus, Bos taurus | R200 | GLGGTRRGGAD | 3 | Homo sapiens, Mus musculus, Bos taurus | R71 | RMERKRREKIE | 3 | Homo sapiens, Mus musculus, Bos taurus | R78 | EKIERRQQEVE | 3 | Homo sapiens, Mus musculus, Bos taurus | S137 | IHMVYSKRSGK | 3 | Homo sapiens, Mus musculus, Bos taurus | T199 | GGLGGTRRGGA | 3 | Homo sapiens, Mus musculus, Bos taurus | V110 | LFVARVNYDTT | 3 | Homo sapiens, Mus musculus, Bos taurus | V135 | KRIHMVYSKRS | 3 | Homo sapiens, Mus musculus, Bos taurus | V178 | RVLVDVERGRT | 3 | Homo sapiens, Mus musculus, Bos taurus | W187 | RTVKGWRPRRL | 3 | Homo sapiens, Mus musculus, Bos taurus | W89 | TELKMWDPHND | 3 | Homo sapiens, Mus musculus, Bos taurus | Y112 | VARVNYDTTES | 3 | Homo sapiens, Mus musculus, Bos taurus | Y136 | RIHMVYSKRSG | 3 | Homo sapiens, Mus musculus, Bos taurus | Y146 | GKPRGYAFIEY | 3 | Homo sapiens, Mus musculus, Bos taurus | Y38 | HHNQPYCGIAP | 3 | Homo sapiens, Mus musculus, Bos taurus |
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