mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for SAP30L
Gene summary
Basic gene Info.Gene symbolSAP30L
Gene nameSAP30-like
CytomapUCSC genome browser: 5q33.2
Type of geneprotein-coding
DescriptionHCV non-structural protein 4A-transactivated protein 2Sin3A associated protein p30-likehistone deacetylase complex subunit SAP30Lsin3 corepressor complex subunit SAP30Lsin3-associated protein p30-like
Modification date20141207
dbXrefs MIM : 610398
Ensembl : ENSG00000164576
HPRD : 08563
Vega : OTTHUMG00000130146
ProteinUniProt: Q9HAJ7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SAP30L
BioGPS: 79685
PathwayNCI Pathway Interaction Database: SAP30L
Pathway Commons: SAP30L
ContextiHOP: SAP30L
ligand binding site mutation search in PubMed: SAP30L
UCL Cancer Institute: SAP30L
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for SAP30L

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of SAP30L and the right PPI network was created from samples without mutations in the LBS of SAP30L. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for SAP30L
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0032460Polycystic Ovary Syndrome1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of SAP30L go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of SAP30L
Multiple alignments for Q9HAJ7 in multiple species
LBSAA sequence# speciesSpecies
C29GYGQSCCLIED1Homo sapiens
C29FFGQSCCLIED1Danio rerio
C29GYGQSCCLIAD1Mus musculus
C29FFGQTCCLIDG1Xenopus tropicalis
C29---QTCCLIDD1Drosophila melanogaster
C29---QICCLLDD1Anopheles gambiae
C38EDGERCVRPAG1Homo sapiens
C38EDAERCGRPAG1Danio rerio
C38ADGERCVRPAG1Mus musculus
C38DGGERCPRPAG1Xenopus tropicalis
C38DDMERCRNQAG1Drosophila melanogaster
C38DDGERCRKQAG1Anopheles gambiae
C74RHLYICDFHKN4Homo sapiens, Danio rerio, Mus musculus, Xenopus tropicalis
C74QHIYICDHHKE1Drosophila melanogaster
C74RHIYICDFHKA1Anopheles gambiae
H77YICDFHKNFIQ3Homo sapiens, Danio rerio, Mus musculus
H77YICDFHKNYIQ1Xenopus tropicalis
H77YICDHHKERIQ1Drosophila melanogaster
H77YICDFHKARIQ1Anopheles gambiae

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