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mutLBSgeneDB |
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| Gene summary for ATG12 |
 Gene summary |
| Basic gene Info. | Gene symbol | ATG12 |
| Gene name | autophagy related 12 | |
| Synonyms | APG12|APG12L|FBR93|HAPG12 | |
| Cytomap | UCSC genome browser: 5q21-q22 | |
| Type of gene | protein-coding | |
| RefGenes | NR_073604.1, NM_001277783.1,NM_004707.3,NR_033362.1,NR_033363.1, NR_073603.1, | |
| Description | ATG12 autophagy related 12 homologApg12 (autophagy, yeast) homologubiquitin-like protein ATG12 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 609608 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000145782 | ||
| HPRD : 08496 | ||
| Vega : OTTHUMG00000128889 | ||
| Protein | UniProt: O94817 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ATG12 | |
| BioGPS: 9140 | ||
| Pathway | NCI Pathway Interaction Database: ATG12 | |
| KEGG: ATG12 | ||
| REACTOME: ATG12 | ||
| Pathway Commons: ATG12 | ||
| Context | iHOP: ATG12 | |
| ligand binding site mutation search in PubMed: ATG12 | ||
| UCL Cancer Institute: ATG12 | ||
| 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 ATG12 |
| 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 | F87 | D86G | SKCM | 1 | K90 | K90R | STAD | 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 ATG12 |
| 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 | F87 | D86G | -1.0870029 | K90 | K90R | -0.088853177 |
| (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 ATG12 from PDB |
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| Differential gene expression and gene-gene network for ATG12 |
| 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 ATG12 |
| 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 ATG12 |
| 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 ATG12 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (GLU,ALA,ALA,ASP,MET,GLU,GLU,TYR,GLU,GLU,SER,GLY,LEU) | 4naw | A | F87 K90 | III | Peptide ligand (ALA,ALA,ASP,MET,GLU,GLU,TYR,GLU,GLU,SER,GLY,LEU) | 4naw | E | F87 K90 | III | Peptide ligand (ALA,ALA,ASP,MET,GLU,GLU,TYR,GLU,GLU,SER,GLY,LEU) | 4naw | I | F87 K90 | III | Peptide ligand (GLU,ALA,ALA,ASP,MET,GLU,GLU,TYR,GLU,GLU,SER,GLY,LEU) | 4naw | M | F87 K90 |
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| Conservation information for LBS of ATG12 |
| Multiple alignments for O94817 in multiple species |
| LBS | AA sequence | # species | Species | A74 | KTKKWAVERTR | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | A74 | KKRTWTVDPNK | 1 | Drosophila melanogaster | E76 | KKWAVERTRTI | 3 | Homo sapiens, Bos taurus, Mus musculus | E76 | RTWTVDPNKTV | 1 | Drosophila melanogaster | E76 | KKWAVERTRTV | 1 | Rattus norvegicus | F87 | QGLIDFIKKFL | 2 | Homo sapiens, Mus musculus | F87 | GWIQTFIHKFL | 1 | Drosophila melanogaster | F87 | QGLFDFIKKFL | 1 | Bos taurus | F87 | QALIDFIRKFL | 1 | Rattus norvegicus | F91 | DFIKKFLKLVA | 3 | Homo sapiens, Bos taurus, Mus musculus | F91 | TFIHKFLKLDA | 1 | Drosophila melanogaster | F91 | DFIRKFLRLLA | 1 | Rattus norvegicus | K54 | GDTKKKIDILL | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | K54 | DKDGSKICILL | 1 | Drosophila melanogaster | K72 | IMKTKKWAVER | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | K72 | IIKKRTWTVDP | 1 | Drosophila melanogaster | K90 | IDFIKKFLKLV | 2 | Homo sapiens, Mus musculus | K90 | QTFIHKFLKLD | 1 | Drosophila melanogaster | K90 | FDFIKKFLKLV | 1 | Bos taurus | K90 | IDFIRKFLRLL | 1 | Rattus norvegicus | L84 | RTIQGLIDFIK | 2 | Homo sapiens, Mus musculus | L84 | KTVGWIQTFIH | 1 | Drosophila melanogaster | L84 | RTIQGLFDFIK | 1 | Bos taurus | L84 | RTVQALIDFIR | 1 | Rattus norvegicus | R79 | AVERTRTIQGL | 3 | Homo sapiens, Bos taurus, Mus musculus | R79 | TVDPNKTVGWI | 1 | Drosophila melanogaster | R79 | AVERTRTVQAL | 1 | Rattus norvegicus | V75 | TKKWAVERTRT | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | V75 | KRTWTVDPNKT | 1 | Drosophila melanogaster | W73 | MKTKKWAVERT | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | W73 | IKKRTWTVDPN | 1 | Drosophila melanogaster |
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