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mutLBSgeneDB |
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| Gene summary for SAP30L |
 Gene summary |
| Basic gene Info. | Gene symbol | SAP30L |
| Gene name | SAP30-like | |
| Synonyms | NS4ATP2 | |
| Cytomap | UCSC genome browser: 5q33.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001131062.1, NM_001131063.1,NM_024632.5,NR_024084.1, | |
| Description | HCV non-structural protein 4A-transactivated protein 2Sin3A associated protein p30-likehistone deacetylase complex subunit SAP30Lsin3 corepressor complex subunit SAP30Lsin3-associated protein p30-like | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 610398 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000164576 | ||
| HPRD : 08563 | ||
| Vega : OTTHUMG00000130146 | ||
| Protein | UniProt: Q9HAJ7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SAP30L | |
| BioGPS: 79685 | ||
| Pathway | NCI Pathway Interaction Database: SAP30L | |
| KEGG: SAP30L | ||
| REACTOME: SAP30L | ||
| Pathway Commons: SAP30L | ||
| Context | iHOP: SAP30L | |
| ligand binding site mutation search in PubMed: SAP30L | ||
| UCL Cancer Institute: SAP30L | ||
| 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 SAP30L |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H77 | N79K | 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 SAP30L |
| 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 | H77 | N79K | -0.53762398 |
| (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 SAP30L from PDB |
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| Differential gene expression and gene-gene network for SAP30L |
| 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 SAP30L |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0032460 | Polycystic Ovary Syndrome | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SAP30L |
| 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 SAP30L go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2n1u | A | H77 |
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| Conservation information for LBS of SAP30L |
| Multiple alignments for Q9HAJ7 in multiple species |
| LBS | AA sequence | # species | Species | C29 | GYGQSCCLIED | 1 | Homo sapiens | C29 | FFGQSCCLIED | 1 | Danio rerio | C29 | GYGQSCCLIAD | 1 | Mus musculus | C29 | FFGQTCCLIDG | 1 | Xenopus tropicalis | C29 | ---QTCCLIDD | 1 | Drosophila melanogaster | C29 | ---QICCLLDD | 1 | Anopheles gambiae | C38 | EDGERCVRPAG | 1 | Homo sapiens | C38 | EDAERCGRPAG | 1 | Danio rerio | C38 | ADGERCVRPAG | 1 | Mus musculus | C38 | DGGERCPRPAG | 1 | Xenopus tropicalis | C38 | DDMERCRNQAG | 1 | Drosophila melanogaster | C38 | DDGERCRKQAG | 1 | Anopheles gambiae | C74 | RHLYICDFHKN | 4 | Homo sapiens, Danio rerio, Mus musculus, Xenopus tropicalis | C74 | QHIYICDHHKE | 1 | Drosophila melanogaster | C74 | RHIYICDFHKA | 1 | Anopheles gambiae | H77 | YICDFHKNFIQ | 3 | Homo sapiens, Danio rerio, Mus musculus | H77 | YICDFHKNYIQ | 1 | Xenopus tropicalis | H77 | YICDHHKERIQ | 1 | Drosophila melanogaster | H77 | YICDFHKARIQ | 1 | Anopheles gambiae |
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