mutLBSgeneDB |
Gene summary for SDR39U1 |
Gene summary |
Basic gene Info. | Gene symbol | SDR39U1 |
Gene name | short chain dehydrogenase/reductase family 39U, member 1 | |
Synonyms | C14orf124|HCDI | |
Cytomap | UCSC genome browser: 14q12 | |
Type of gene | protein-coding | |
RefGenes | NM_001290292.1, NM_001290293.1,NM_020195.2, | |
Description | epimerase family protein SDR39U1 | |
Modification date | 20141207 | |
dbXrefs | HGNC : HGNC | |
Ensembl : ENSG00000100445 | ||
HPRD : 16598 | ||
Vega : OTTHUMG00000171316 | ||
Protein | UniProt: Q9NRG7 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SDR39U1 | |
BioGPS: 56948 | ||
Pathway | NCI Pathway Interaction Database: SDR39U1 | |
KEGG: SDR39U1 | ||
REACTOME: SDR39U1 | ||
Pathway Commons: SDR39U1 | ||
Context | iHOP: SDR39U1 | |
ligand binding site mutation search in PubMed: SDR39U1 | ||
UCL Cancer Institute: SDR39U1 | ||
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 SDR39U1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | A85 | A85V | 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 SDR39U1 |
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 |
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 | A85 | A85V | -0.54522032 |
(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 SDR39U1 from PDB |
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Differential gene expression and gene-gene network for SDR39U1 |
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 SDR39U1 |
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 SDR39U1 |
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. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of SDR39U1 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 SDR39U1 |
Multiple alignments for Q9NRG7 in multiple species |
LBS | AA sequence | # species | Species | A85 | AAVNLAGENIL | 2 | Homo sapiens, Bos taurus | A85 | AVVNLAGLPIS | 1 | Arabidopsis thaliana | A85 | VVINLAGENIL | 1 | Mus musculus | E87 | VNLAGENILNP | 2 | Homo sapiens, Bos taurus | E87 | VNLAGLPIST- | 1 | Arabidopsis thaliana | E87 | INLAGENILNP | 1 | Mus musculus | G184 | VVVRSGVVLGR | 3 | Homo sapiens, Mus musculus, Bos taurus | G184 | ALIRIGVVLGK | 1 | Arabidopsis thaliana | G86 | AVNLAGENILN | 2 | Homo sapiens, Bos taurus | G86 | VVNLAGLPIST | 1 | Arabidopsis thaliana | G86 | VINLAGENILN | 1 | Mus musculus | L84 | -AAVNLAGENI | 2 | Homo sapiens, Bos taurus | L84 | TAVVNLAGLPI | 1 | Arabidopsis thaliana | L84 | -VVINLAGENI | 1 | Mus musculus | N88 | NLAGENILNPL | 3 | Homo sapiens, Mus musculus, Bos taurus | N88 | NLAGLPIST-- | 1 | Arabidopsis thaliana | R108 | EVIGSRLETTQ | 1 | Homo sapiens | R108 | EIKGSRIRVTS | 1 | Arabidopsis thaliana | R108 | EVLTSRLDTTH | 1 | Mus musculus | R108 | EVLSSRLETTQ | 1 | Bos taurus | R58 | VTLVSRKPGPG | 1 | Homo sapiens | R58 | IRVLTRSKSKA | 1 | Arabidopsis thaliana | R58 | VKLVSRQPGPG | 1 | Mus musculus | R58 | VTLISRKPGPD | 1 | Bos taurus | S107 | KEVIGSRLETT | 1 | Homo sapiens | S107 | KEIKGSRIRVT | 1 | Arabidopsis thaliana | S107 | KEVLTSRLDTT | 1 | Mus musculus | S107 | KEVLSSRLETT | 1 | Bos taurus | S183 | QVVVRSGVVLG | 3 | Homo sapiens, Mus musculus, Bos taurus | S183 | VALIRIGVVLG | 1 | Arabidopsis thaliana | S57 | EVTLVSRKPGP | 1 | Homo sapiens | S57 | AIRVLTRSKSK | 1 | Arabidopsis thaliana | S57 | EVKLVSRQPGP | 1 | Mus musculus | S57 | EVTLISRKPGP | 1 | Bos taurus | T133 | VLV--TGVAYY | 2 | Homo sapiens, Bos taurus | T133 | VLVSATAVGYY | 1 | Arabidopsis thaliana | T133 | ILV--TGVAYY | 1 | Mus musculus | V132 | KAWVLV--TGV | 1 | Homo sapiens | V132 | RPTVLVSATAV | 1 | Arabidopsis thaliana | V132 | QAWILV--TGV | 1 | Mus musculus | V132 | QAWVLV--TGV | 1 | Bos taurus | V186 | VRSGVVLGRGG | 3 | Homo sapiens, Mus musculus, Bos taurus | V186 | IRIGVVLGKDG | 1 | Arabidopsis thaliana | W165 | NLVTKWEAAAR | 3 | Homo sapiens, Mus musculus, Bos taurus | W165 | EVCREWEGTAL | 1 | Arabidopsis thaliana |
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