mutLBSgeneDB

mutLBSgeneDB
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 CISD1
Gene summary
Basic gene Info.Gene symbolCISD1
Gene nameCDGSH iron sulfur domain 1
SynonymsC10orf70|ZCD1|mitoNEET
CytomapUCSC genome browser: 10q21.1
Type of geneprotein-coding
RefGenesNM_018464.4,
DescriptionCDGSH iron sulfur domain-containing protein 1CDGSH iron-sulfur domain-containing protein 1zinc finger CDGSH-type domain 1zinc finger, CDGSH-type domain 1
Modification date20141207
dbXrefs MIM : 611932
HGNC : HGNC
Ensembl : ENSG00000122873
HPRD : 12587
Vega : OTTHUMG00000018266
ProteinUniProt: Q9NZ45
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CISD1
BioGPS: 55847
PathwayNCI Pathway Interaction Database: CISD1
KEGG: CISD1
REACTOME: CISD1
Pathway Commons: CISD1
ContextiHOP: CISD1
ligand binding site mutation search in PubMed: CISD1
UCL Cancer Institute: CISD1
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


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Ligand binding site mutations for CISD1
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
D84D84GUCEC1
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 CISD1
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
D84D84G-0.34745221
(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 CISD1 from PDB

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Differential gene expression and gene-gene network for CISD1
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 CISD1 and the right PPI network was created from samples without mutations in the LBS of CISD1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for CISD1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for CISD1
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.

Gene-centered drug-gene interaction network
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 CISD1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
FESDI-MU-SULFIDO-DIIRON2qd0AD84
FESDI-MU-SULFIDO-DIIRON2qd0BD84
FESDI-MU-SULFIDO-DIIRON2qh7AD84
FESDI-MU-SULFIDO-DIIRON2qh7BD84
FESDI-MU-SULFIDO-DIIRON2r13AD84
FESDI-MU-SULFIDO-DIIRON3ew0AD84
FESDI-MU-SULFIDO-DIIRON3ew0BD84
FESDI-MU-SULFIDO-DIIRON3lpqAD84
FESDI-MU-SULFIDO-DIIRON3lpqBD84
FESDI-MU-SULFIDO-DIIRON3reeAD84
FESDI-MU-SULFIDO-DIIRON4ezfAD84
FESDI-MU-SULFIDO-DIIRON4ezfBD84
FESDI-MU-SULFIDO-DIIRON4f1eAD84
FESDI-MU-SULFIDO-DIIRON4f1eBD84
FESDI-MU-SULFIDO-DIIRON4f1eCD84
FESDI-MU-SULFIDO-DIIRON4f1eDD84
FESDI-MU-SULFIDO-DIIRON4f1eED84
FESDI-MU-SULFIDO-DIIRON4f1eFD84
FESDI-MU-SULFIDO-DIIRON4f1eGD84
FESDI-MU-SULFIDO-DIIRON4f1eHD84
FESDI-MU-SULFIDO-DIIRON4f1eID84
FESDI-MU-SULFIDO-DIIRON4f1eJD84
FESDI-MU-SULFIDO-DIIRON4f1eKD84
FESDI-MU-SULFIDO-DIIRON4f1eLD84
FESDI-MU-SULFIDO-DIIRON4f1eMD84
FESDI-MU-SULFIDO-DIIRON4f1eND84
FESDI-MU-SULFIDO-DIIRON4f1eOD84
FESDI-MU-SULFIDO-DIIRON4f1ePD84
FESDI-MU-SULFIDO-DIIRON4f1eQD84
FESDI-MU-SULFIDO-DIIRON4f1eRD84
FESDI-MU-SULFIDO-DIIRON4f28AD84
FESDI-MU-SULFIDO-DIIRON4f28BD84
FESDI-MU-SULFIDO-DIIRON4f2cAD84
FESDI-MU-SULFIDO-DIIRON4f2cBD84


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Conservation information for LBS of CISD1
Multiple alignments for Q9NZ45 in multiple species
LBSAA sequence# speciesSpecies
A86PFCDGAHIKHN2Mus musculus, Rattus norvegicus
A86PFCDGAHTKHN1Homo sapiens
A86PLCDGSHTKHN1Bos taurus
C72DKAVYCRCWRS4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C74AVYCRCWRSKK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C83KKFPFCDGAHI2Mus musculus, Rattus norvegicus
C83KKFPFCDGAHT1Homo sapiens
C83KKFPLCDGSHT1Bos taurus
D84KFPFCDGAHIK2Mus musculus, Rattus norvegicus
D84KFPFCDGAHTK1Homo sapiens
D84KFPLCDGSHTK1Bos taurus
G85FPFCDGAHIKH2Mus musculus, Rattus norvegicus
G85FPFCDGAHTKH1Homo sapiens
G85FPLCDGSHTKH1Bos taurus
G99TGDNVGPLIIK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
H87FCDGAHIKHNE2Mus musculus, Rattus norvegicus
H87FCDGAHTKHNE1Homo sapiens
H87LCDGSHTKHNE1Bos taurus
P100GDNVGPLIIKK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R73KAVYCRCWRSK4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S77CRCWRSKKFPF3Homo sapiens, Mus musculus, Rattus norvegicus
S77CRCWRSKKFPL1Bos taurus


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