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mutLBSgeneDB |
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| Gene summary for SCIN |
 Gene summary |
| Basic gene Info. | Gene symbol | SCIN |
| Gene name | scinderin | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 7p21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001112706.2, NM_033128.3, | |
| Description | adseverin | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 613416 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000006747 | ||
| HPRD : 11539 | ||
| Vega : OTTHUMG00000152385 | ||
| Protein | UniProt: Q9Y6U3 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SCIN | |
| BioGPS: 85477 | ||
| Pathway | NCI Pathway Interaction Database: SCIN | |
| KEGG: SCIN | ||
| REACTOME: SCIN | ||
| Pathway Commons: SCIN | ||
| Context | iHOP: SCIN | |
| ligand binding site mutation search in PubMed: SCIN | ||
| UCL Cancer Institute: SCIN | ||
| 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 SCIN |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E305 | P303S | COAD | 2 | N538 | N538T | COAD | 1 | G422 | G422D | COAD | 1 | R517 | N518K | LUAD | 1 | D423 | D423G | STAD | 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 SCIN |
| 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 | G422 | G422D | -1.2100778 | N538 | N538T | -1.0967059 | R517 | N518K | -0.94526635 | D423 | D423G | -0.87782847 | E305 | P303S | -0.54876626 |
| (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 SCIN from PDB |
| PDB ID | PDB title | PDB structure | 3FG6 | Structure of the C-terminus of Adseverin |  |
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| Differential gene expression and gene-gene network for SCIN |
| 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 SCIN |
| 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 SCIN |
| 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 SCIN go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 5a1m | A | E305 | CA | CALCIUM(2+) | 3fg6 | A | G422 D423 | CA | CALCIUM(2+) | 3fg6 | G | G422 D423 | CA | CALCIUM(2+) | 3fg6 | E | G422 D423 | CA | CALCIUM(2+) | 3fg6 | H | G422 D423 | CA | CALCIUM(2+) | 3fg6 | D | G422 D423 | CA | CALCIUM(2+) | 3fg6 | B | G422 D423 | CA | CALCIUM(2+) | 3fg6 | A | N538 | CA | CALCIUM(2+) | 3fg6 | C | N538 | CA | CALCIUM(2+) | 3fg6 | G | N538 | CA | CALCIUM(2+) | 3fg6 | E | N538 | CA | CALCIUM(2+) | 3fg6 | F | N538 | CA | CALCIUM(2+) | 3fg6 | H | N538 | CA | CALCIUM(2+) | 3fg6 | B | N538 | CA | CALCIUM(2+) | 3fg6 | D | R517 N538 |
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| Conservation information for LBS of SCIN |
| Multiple alignments for Q9Y6U3 in multiple species |
| LBS | AA sequence | # species | Species | A662 | WIGKDANEVEK | 3 | Homo sapiens, Mus musculus, Bos taurus | A662 | WIGKEANETER | 1 | Gallus gallus | D423 | EFYGGDCYIIL | 3 | Homo sapiens, Mus musculus, Bos taurus | D423 | QFYGGDCYIIL | 1 | Gallus gallus | D539 | SLNSNDVFVLK | 2 | Homo sapiens, Bos taurus | D539 | SLNSNDAFVLK | 1 | Gallus gallus | D539 | SLNSNDTFVLK | 1 | Mus musculus | D643 | DDLAEDDVMLL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | D644 | DLAEDDVMLLD | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | D661 | IWIGKDANEVE | 3 | Homo sapiens, Mus musculus, Bos taurus | D661 | VWIGKEANETE | 1 | Gallus gallus | E280 | AMLLSEECFIL | 3 | Homo sapiens, Gallus gallus, Bos taurus | E280 | GMLLSEECFIL | 1 | Mus musculus | E281 | MLLSEECFILD | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | E305 | DANPQERKAAM | 3 | Homo sapiens, Gallus gallus, Bos taurus | E305 | NANPQERKTAM | 1 | Mus musculus | E449 | NATRDELTTSA | 2 | Homo sapiens, Bos taurus | E449 | CATKDELTASA | 1 | Gallus gallus | E449 | NATRDELTMSA | 1 | Mus musculus | E562 | GASQEEEKGAE | 2 | Homo sapiens, Mus musculus | E562 | GVNKEEEQGAQ | 1 | Gallus gallus | E562 | GSTQEEEKGAE | 1 | Bos taurus | E666 | DANEVEKKESL | 1 | Homo sapiens | E666 | EANETERQESV | 1 | Gallus gallus | E666 | DANEVEKKESV | 1 | Mus musculus | E666 | DANEVEKSESL | 1 | Bos taurus | G422 | GEFYGGDCYII | 3 | Homo sapiens, Mus musculus, Bos taurus | G422 | GQFYGGDCYII | 1 | Gallus gallus | N538 | NSLNSNDVFVL | 2 | Homo sapiens, Bos taurus | N538 | MSLNSNDAFVL | 1 | Gallus gallus | N538 | NSLNSNDTFVL | 1 | Mus musculus | N663 | IGKDANEVEKK | 2 | Homo sapiens, Mus musculus | N663 | IGKEANETERQ | 1 | Gallus gallus | N663 | IGKDANEVEKS | 1 | Bos taurus | R517 | LFQVRRNLASI | 3 | Homo sapiens, Mus musculus, Bos taurus | R517 | LFQIRRNLMSV | 1 | Gallus gallus |
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