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mutLBSgeneDB |
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| Gene summary for CISD1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CISD1 |
| Gene name | CDGSH iron sulfur domain 1 | |
| Synonyms | C10orf70|ZCD1|mitoNEET | |
| Cytomap | UCSC genome browser: 10q21.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_018464.4, | |
| Description | CDGSH iron sulfur domain-containing protein 1CDGSH iron-sulfur domain-containing protein 1zinc finger CDGSH-type domain 1zinc finger, CDGSH-type domain 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611932 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000122873 | ||
| HPRD : 12587 | ||
| Vega : OTTHUMG00000018266 | ||
| Protein | UniProt: Q9NZ45 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CISD1 | |
| BioGPS: 55847 | ||
| Pathway | NCI Pathway Interaction Database: CISD1 | |
| KEGG: CISD1 | ||
| REACTOME: CISD1 | ||
| Pathway Commons: CISD1 | ||
| Context | iHOP: CISD1 | |
| ligand binding site mutation search in PubMed: CISD1 | ||
| UCL Cancer Institute: CISD1 | ||
| 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 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D84 | D84G | UCEC | 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 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 |
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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 | D84 | D84G | -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) |
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| Phenotype information for CISD1 |
| 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 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. |
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| Gene-centered drug-gene interaction network |
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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 CISD1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FES | DI-MU-SULFIDO-DIIRON | 2qd0 | A | D84 | FES | DI-MU-SULFIDO-DIIRON | 2qd0 | B | D84 | FES | DI-MU-SULFIDO-DIIRON | 2qh7 | A | D84 | FES | DI-MU-SULFIDO-DIIRON | 2qh7 | B | D84 | FES | DI-MU-SULFIDO-DIIRON | 2r13 | A | D84 | FES | DI-MU-SULFIDO-DIIRON | 3ew0 | A | D84 | FES | DI-MU-SULFIDO-DIIRON | 3ew0 | B | D84 | FES | DI-MU-SULFIDO-DIIRON | 3lpq | A | D84 | FES | DI-MU-SULFIDO-DIIRON | 3lpq | B | D84 | FES | DI-MU-SULFIDO-DIIRON | 3ree | A | D84 | FES | DI-MU-SULFIDO-DIIRON | 4ezf | A | D84 | FES | DI-MU-SULFIDO-DIIRON | 4ezf | B | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | A | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | B | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | C | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | D | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | E | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | F | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | G | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | H | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | I | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | J | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | K | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | L | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | M | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | N | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | O | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | P | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | Q | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f1e | R | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f28 | A | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f28 | B | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f2c | A | D84 | FES | DI-MU-SULFIDO-DIIRON | 4f2c | B | D84 |
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| Conservation information for LBS of CISD1 |
| Multiple alignments for Q9NZ45 in multiple species |
| LBS | AA sequence | # species | Species | A86 | PFCDGAHIKHN | 2 | Mus musculus, Rattus norvegicus | A86 | PFCDGAHTKHN | 1 | Homo sapiens | A86 | PLCDGSHTKHN | 1 | Bos taurus | C72 | DKAVYCRCWRS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C74 | AVYCRCWRSKK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C83 | KKFPFCDGAHI | 2 | Mus musculus, Rattus norvegicus | C83 | KKFPFCDGAHT | 1 | Homo sapiens | C83 | KKFPLCDGSHT | 1 | Bos taurus | D84 | KFPFCDGAHIK | 2 | Mus musculus, Rattus norvegicus | D84 | KFPFCDGAHTK | 1 | Homo sapiens | D84 | KFPLCDGSHTK | 1 | Bos taurus | G85 | FPFCDGAHIKH | 2 | Mus musculus, Rattus norvegicus | G85 | FPFCDGAHTKH | 1 | Homo sapiens | G85 | FPLCDGSHTKH | 1 | Bos taurus | G99 | TGDNVGPLIIK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H87 | FCDGAHIKHNE | 2 | Mus musculus, Rattus norvegicus | H87 | FCDGAHTKHNE | 1 | Homo sapiens | H87 | LCDGSHTKHNE | 1 | Bos taurus | P100 | GDNVGPLIIKK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R73 | KAVYCRCWRSK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S77 | CRCWRSKKFPF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S77 | CRCWRSKKFPL | 1 | Bos taurus |
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