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mutLBSgeneDB |
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| Gene summary for ARL6 |
 Gene summary |
| Basic gene Info. | Gene symbol | ARL6 |
| Gene name | ADP-ribosylation factor-like 6 | |
| Synonyms | BBS3|RP55 | |
| Cytomap | UCSC genome browser: 3q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001278293.1, NM_032146.4,NM_177976.2,NR_103511.1, | |
| Description | ADP-ribosylation factor-like protein 6Bardet-Biedl syndrome 3 protein | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 608845 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000113966 | ||
| HPRD : 10588 | ||
| Vega : OTTHUMG00000159189 | ||
| Protein | UniProt: Q9H0F7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ARL6 | |
| BioGPS: 84100 | ||
| Pathway | NCI Pathway Interaction Database: ARL6 | |
| KEGG: ARL6 | ||
| REACTOME: ARL6 | ||
| Pathway Commons: ARL6 | ||
| Context | iHOP: ARL6 | |
| ligand binding site mutation search in PubMed: ARL6 | ||
| UCL Cancer Institute: ARL6 | ||
| 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 ARL6 |
| 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 | L134 | R135T | BLCA | 1 | S28 | S28N | COAD | 1 | I47 | N46Y | GBM | 1 | D163 | S162G | 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 ARL6 |
| 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 | L134 | R135T | -1.4180767 | D163 | S162G | -1.329452 | S28 | S28N | -1.1399681 | I47 | N46Y | -0.40978885 |
| (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 ARL6 from PDB |
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| Differential gene expression and gene-gene network for ARL6 |
| 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 ARL6 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0752166 | Bardet-Biedl Syndrome | 10 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ARL6 |
| 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 ARL6 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GTP | GTP | 2h57 | A | S28 I47 L134 D163 | GTP | GTP | 2h57 | B | S28 I47 L134 D163 | GTP | GTP | 2h57 | C | S28 I47 L134 D163 |
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| Conservation information for LBS of ARL6 |
| Multiple alignments for Q9H0F7 in multiple species |
| LBS | AA sequence | # species | Species | A164 | ICASDAIKGEG | 3 | Homo sapiens, Bos taurus, Mus musculus | A164 | IHSTCALTGDG | 1 | Caenorhabditis elegans | A164 | ICASDAVKGEG | 1 | Danio rerio | D133 | FANKMDLRDAL | 2 | Danio rerio, Bos taurus | D133 | FANKMDLRDAV | 1 | Homo sapiens | D133 | LANKMDIPGAM | 1 | Caenorhabditis elegans | D133 | FANKMDLRDSV | 1 | Mus musculus | D163 | HICASDAIKGE | 3 | Homo sapiens, Bos taurus, Mus musculus | D163 | SIHSTCALTGD | 1 | Caenorhabditis elegans | D163 | HICASDAVKGE | 1 | Danio rerio | D26 | LCLGLDNSGKT | 4 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus | D26 | VVVGLDNSGKT | 1 | Caenorhabditis elegans | G29 | GLDNSGKTTII | 4 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus | G29 | GLDNSGKTTIL | 1 | Caenorhabditis elegans | G72 | VFDMSGQGRYR | 4 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus | G72 | AFDMAGQMKYR | 1 | Caenorhabditis elegans | I165 | CASDAIKGEGL | 3 | Homo sapiens, Bos taurus, Mus musculus | I165 | HSTCALTGDGL | 1 | Caenorhabditis elegans | I165 | CASDAVKGEGL | 1 | Danio rerio | I47 | AQSQDIVPTIG | 2 | Bos taurus, Mus musculus | I47 | AQSQNILPTIG | 1 | Homo sapiens | I47 | TRSQQIVPTVG | 1 | Caenorhabditis elegans | I47 | AQAQDIVPTIG | 1 | Danio rerio | K131 | LFFANKMDLRD | 4 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus | K131 | VILANKMDIPG | 1 | Caenorhabditis elegans | K30 | LDNSGKTTIIN | 4 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus | K30 | LDNSGKTTILN | 1 | Caenorhabditis elegans | L134 | ANKMDLRDAVT | 1 | Homo sapiens | L134 | ANKMDIPGAMT | 1 | Caenorhabditis elegans | L134 | ANKMDLRDALS | 1 | Danio rerio | L134 | ANKMDLRDALT | 1 | Bos taurus | L134 | ANKMDLRDSVT | 1 | Mus musculus | N130 | ILFFANKMDLR | 3 | Homo sapiens, Bos taurus, Mus musculus | N130 | IVILANKMDIP | 1 | Caenorhabditis elegans | N130 | LLFFANKMDLR | 1 | Danio rerio | N27 | CLGLDNSGKTT | 4 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus | N27 | VVGLDNSGKTT | 1 | Caenorhabditis elegans | S28 | LGLDNSGKTTI | 4 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus | S28 | VGLDNSGKTTI | 1 | Caenorhabditis elegans | S71 | TVFDMSGQGRY | 4 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus | S71 | HAFDMAGQMKY | 1 | Caenorhabditis elegans | T31 | DNSGKTTIINK | 3 | Homo sapiens, Bos taurus, Mus musculus | T31 | DNSGKTTILNQ | 1 | Caenorhabditis elegans | T31 | DNSGKTTIINQ | 1 | Danio rerio | T32 | NSGKTTIINKL | 3 | Homo sapiens, Bos taurus, Mus musculus | T32 | NSGKTTILNQL | 1 | Caenorhabditis elegans | T32 | NSGKTTIINQL | 1 | Danio rerio | T50 | QDIVPTIGFSI | 3 | Danio rerio, Bos taurus, Mus musculus | T50 | QNILPTIGFSI | 1 | Homo sapiens | T50 | QQIVPTVGHVV | 1 | Caenorhabditis elegans |
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