mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us

Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 SCAF8
Gene summary
Basic gene Info.Gene symbolSCAF8
Gene nameSR-related CTD-associated factor 8
SynonymsRBM16
CytomapUCSC genome browser: 6q25.1-q25.3
Type of geneprotein-coding
RefGenesNM_001286188.1,
NM_001286189.1,NM_001286194.1,NM_001286199.1,NM_014892.4,
DescriptionCDC5L complex-associated protein 7RNA-binding motif protein 16SR-like CTD-associated factor 8SR-related and CTD-associated factor 8protein SCAF8
Modification date20141207
dbXrefs MIM : 616024
HGNC : HGNC
Ensembl : ENSG00000213079
HPRD : 11487
Vega : OTTHUMG00000015877
ProteinUniProt: Q9UPN6
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SCAF8
BioGPS: 22828
PathwayNCI Pathway Interaction Database: SCAF8
KEGG: SCAF8
REACTOME: SCAF8
Pathway Commons: SCAF8
ContextiHOP: SCAF8
ligand binding site mutation search in PubMed: SCAF8
UCL Cancer Institute: SCAF8
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


Top
Ligand binding site mutations for SCAF8
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D67D67YCOAD1
H75R74QCOAD1
M26Q28KLUAD1
M26M26ILUAD1
R112I110TSTAD1
H75R74QUCEC1
S22S22LUCEC1
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.


Top
Protein structure related information for SCAF8
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
R112I110T-1.4170111
H75R74Q-0.81207324
M26Q28K-0.68174724
D67D67Y-0.48612597
M26M26I-0.4797668
S22S22L-0.44897097
(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 SCAF8 from PDB

Top
Differential gene expression and gene-gene network for SCAF8
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 SCAF8 and the right PPI network was created from samples without mutations in the LBS of SCAF8. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Top

Top
Phenotype information for SCAF8
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Top
Pharmacological information for SCAF8
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 SCAF8 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (PRO,SER,TYR,SER,PRO,THR)3d9kAM26 D67
IIIPeptide ligand (TYR,SER,PRO)3d9mAM26 D67
IIIPeptide ligand (TYR,SER,PRO)3d9pAM26 D67
IIIPeptide ligand (BTN,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,PRO)3d9lAM26 D67 H75 R112
IIIPeptide ligand (TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER)3d9kBM26 D67 R112
IIIPeptide ligand (PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER)3d9oBS22 M26 D67
IIIPeptide ligand (PRO,SER,TYR,SER,PRO,THR,SER,PRO)3d9pBS22 M26 D67
IIIPeptide ligand (PRO,SER,TYR,SER,PRO,THR,SER,PRO)3d9nAS22 M26 D67 H75
IIIPeptide ligand (PRO,SER,TYR,SER,PRO,THR,SER,PRO)3d9lBS22 M26 D67 R112
IIIPeptide ligand (PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER)3d9mBS22 M26 D67 R112
IIIPeptide ligand (PRO,SER,TYR,SER,PRO,THR,SER,PRO)3d9nBS22 M26 D67 R112


Top
Conservation information for LBS of SCAF8
Multiple alignments for Q9UPN6 in multiple species
LBSAA sequence# speciesSpecies
D67GLYVIDSIVRQ3Homo sapiens, Mus musculus, Rattus norvegicus
H75VRQSRHQFGQE2Homo sapiens, Mus musculus
H75VRQSRHQVGQE1Rattus norvegicus
I21DYKPPISKAKM3Homo sapiens, Mus musculus, Rattus norvegicus
K23KPPISKAKMTQ3Homo sapiens, Mus musculus, Rattus norvegicus
K31MTQITKAAIKA3Homo sapiens, Mus musculus, Rattus norvegicus
L116VRVLNLWQKNN3Homo sapiens, Mus musculus, Rattus norvegicus
M26ISKAKMTQITK3Homo sapiens, Mus musculus, Rattus norvegicus
P20NDYKPPISKAK3Homo sapiens, Mus musculus, Rattus norvegicus
Q72DSIVRQSRHQF2Homo sapiens, Mus musculus
Q72DSIVRQSRHQV1Rattus norvegicus
Q76RQSRHQFGQEK2Homo sapiens, Mus musculus
Q76RQSRHQVGQEK1Rattus norvegicus
R112KSKIVRVLNLW3Homo sapiens, Mus musculus, Rattus norvegicus
R71IDSIVRQSRHQ3Homo sapiens, Mus musculus, Rattus norvegicus
S22YKPPISKAKMT3Homo sapiens, Mus musculus, Rattus norvegicus
S68LYVIDSIVRQS3Homo sapiens, Mus musculus, Rattus norvegicus
V113SKIVRVLNLWQ3Homo sapiens, Mus musculus, Rattus norvegicus
Y64KVPGLYVIDSI3Homo sapiens, Mus musculus, Rattus norvegicus


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas