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mutLBSgeneDB |
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| Gene summary for MID1 |
 Gene summary |
| Basic gene Info. | Gene symbol | MID1 |
| Gene name | midline 1 | |
| Synonyms | BBBG1|FXY|GBBB1|MIDIN|OGS1|OS|OSX|RNF59|TRIM18|XPRF|ZNFXY | |
| Cytomap | UCSC genome browser: Xp22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000381.3, NM_001098624.2,NM_001193277.1,NM_001193278.1,NM_001193279.1, NM_001193280.1,NM_001193281.1,NM_033289.1,NM_033290.3, NM_033291.1, | |
| Description | E3 ubiquitin-protein ligase Midline-1Opitz/BBB syndromeRING finger protein 59RING finger protein Midline-1midline 1 RING finger proteinputative transcription factor XPRFtripartite motif protein TRIM18tripartite motif-containing protein 18zinc fing | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 300552 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000101871 | ||
| Ensembl : ENSG00000234129 | ||
| HPRD : 02047 | ||
| Vega : OTTHUMG00000021127 | ||
| Protein | UniProt: O15344 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MID1 | |
| BioGPS: 4281 | ||
| Pathway | NCI Pathway Interaction Database: MID1 | |
| KEGG: MID1 | ||
| REACTOME: MID1 | ||
| Pathway Commons: MID1 | ||
| Context | iHOP: MID1 | |
| ligand binding site mutation search in PubMed: MID1 | ||
| UCL Cancer Institute: MID1 | ||
| 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 MID1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H207 | D206N | BRCA | 1 | C134 | K132N | COAD | 1 | H204 | R203W | COAD | 1 | H159 | H159R | LUSC | 1 | H204 | R205H | UCEC | 1 | H159 | R160P | 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 MID1 |
| 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 | H204 | R203W | -1.2243123 | H207 | D206N | -1.0415098 | H204 | R205H | -0.98415946 | C134 | K132N | -0.53012955 | H159 | H159R | -0.39620958 | H159 | R160P | -0.312635 |
| (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 MID1 from PDB |
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| Differential gene expression and gene-gene network for MID1 |
| 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 MID1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2936904 | Opitz GBBB Syndrome, X-Linked | 21 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for MID1 |
| 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 MID1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2ffw | A | C134 H159 | ZN | ZINC(2+) | 2jun | A | C134 H159 | ZN | ZINC(2+) | 2dq5 | A | H204 H207 | ZN | ZINC(2+) | 2jun | A | H204 H207 |
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| Conservation information for LBS of MID1 |
| Multiple alignments for O15344 in multiple species |
| LBS | AA sequence | # species | Species | C119 | AEKVLCQFCDQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C122 | VLCQFCDQDPA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C134 | DAVKTCVTCEV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C137 | KTCVTCEVSYC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C142 | CEVSYCDECLK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C145 | SYCDECLKATH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C175 | IRGLMCLEHED | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C187 | KVNMYCVTDDQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C195 | DDQLICALCKL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C198 | LICALCKLVGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D190 | MYCVTDDQLIC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H150 | CLKATHPNKKP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H159 | KPFTGHRLIEP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H178 | LMCLEHEDEKV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H204 | KLVGRHRDHQV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H207 | GRHRDHQVAAL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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