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mutLBSgeneDB |
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| Gene summary for GABARAP |
 Gene summary |
| Basic gene Info. | Gene symbol | GABARAP |
| Gene name | GABA(A) receptor-associated protein | |
| Synonyms | ATG8A|GABARAP-a|MM46 | |
| Cytomap | UCSC genome browser: 17p13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_007278.1, | |
| Description | gamma-aminobutyric acid receptor-associated protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605125 | |
| HGNC : HGNC | ||
| HPRD : 05496 | ||
| Protein | UniProt: O95166 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GABARAP | |
| BioGPS: 11337 | ||
| Pathway | NCI Pathway Interaction Database: GABARAP | |
| KEGG: GABARAP | ||
| REACTOME: GABARAP | ||
| Pathway Commons: GABARAP | ||
| Context | iHOP: GABARAP | |
| ligand binding site mutation search in PubMed: GABARAP | ||
| UCL Cancer Institute: GABARAP | ||
| 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 | GO:0008625 | extrinsic apoptotic signaling pathway via death domain receptors | 15977068 |
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| Ligand binding site mutations for GABARAP |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R28 | D27G | BRCA | 1 | E101,H99 | E100D | 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 GABARAP |
| 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 | R28 | D27G | -0.98043404 | E101 | E100D | -0.66687349 | H99 | E100D | -0.66687349 |
| (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 GABARAP from PDB |
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| Differential gene expression and gene-gene network for GABARAP |
| 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 GABARAP |
| 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 GABARAP |
| 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 GABARAP go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ASP,GLU,LYS,ASP,GLY,PHE,ILE,PHE,VAL,ASN,TYR,SER) | 3wim | A | R28 |
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| Conservation information for LBS of GABARAP |
| Multiple alignments for O95166 in multiple species |
| LBS | AA sequence | # species | Species | D54 | YLVPSDLTVGQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E101 | QEHHEEDFFLY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E17 | EKRRSEGEKIR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F104 | HEEDFFLYIAY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F60 | LTVGQFYFLIR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H99 | LYQEHHEEDFF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I21 | SEGEKIRKKYP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I64 | QFYFLIRKRIH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K24 | EKIRKKYPDRV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K46 | IGDLDKKKYLV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K48 | DLDKKKYLVPS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L44 | ARIGDLDKKKY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L50 | DKKKYLVPSDL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L55 | LVPSDLTVGQF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L63 | GQFYFLIRKRI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | P30 | YPDRVPVIVEK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | P52 | KKYLVPSDLTV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Q59 | DLTVGQFYFLI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R28 | KKYPDRVPVIV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R67 | FLIRKRIHLRA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T56 | VPSDLTVGQFY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V51 | KKKYLVPSDLT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y25 | KIRKKYPDRVP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y49 | LDKKKYLVPSD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus |
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