mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for ARL6
Gene summary
Basic gene Info.Gene symbolARL6
Gene nameADP-ribosylation factor-like 6
CytomapUCSC genome browser: 3q11.2
Type of geneprotein-coding
DescriptionADP-ribosylation factor-like protein 6Bardet-Biedl syndrome 3 protein
Modification date20141219
dbXrefs MIM : 608845
Ensembl : ENSG00000113966
HPRD : 10588
Vega : OTTHUMG00000159189
ProteinUniProt: Q9H0F7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ARL6
BioGPS: 84100
PathwayNCI Pathway Interaction Database: ARL6
Pathway Commons: ARL6
ContextiHOP: ARL6
ligand binding site mutation search in PubMed: ARL6
UCL Cancer Institute: ARL6
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

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.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of ARL6 and the right PPI network was created from samples without mutations in the LBS of ARL6. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ARL6
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0752166Bardet-Biedl Syndrome10Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

Pharmacological information for ARL6
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ARL6 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GTPGTP2h57AS28 I47 L134 D163
GTPGTP2h57BS28 I47 L134 D163
GTPGTP2h57CS28 I47 L134 D163

Conservation information for LBS of ARL6
Multiple alignments for Q9H0F7 in multiple species
LBSAA sequence# speciesSpecies
A164ICASDAIKGEG3Homo sapiens, Bos taurus, Mus musculus
A164IHSTCALTGDG1Caenorhabditis elegans
A164ICASDAVKGEG1Danio rerio
D133FANKMDLRDAL2Danio rerio, Bos taurus
D133FANKMDLRDAV1Homo sapiens
D133LANKMDIPGAM1Caenorhabditis elegans
D133FANKMDLRDSV1Mus musculus
D163HICASDAIKGE3Homo sapiens, Bos taurus, Mus musculus
D163SIHSTCALTGD1Caenorhabditis elegans
D163HICASDAVKGE1Danio rerio
D26LCLGLDNSGKT4Homo sapiens, Danio rerio, Bos taurus, Mus musculus
D26VVVGLDNSGKT1Caenorhabditis elegans
G29GLDNSGKTTII4Homo sapiens, Danio rerio, Bos taurus, Mus musculus
G29GLDNSGKTTIL1Caenorhabditis elegans
G72VFDMSGQGRYR4Homo sapiens, Danio rerio, Bos taurus, Mus musculus
G72AFDMAGQMKYR1Caenorhabditis elegans
I165CASDAIKGEGL3Homo sapiens, Bos taurus, Mus musculus
I165HSTCALTGDGL1Caenorhabditis elegans
I165CASDAVKGEGL1Danio rerio
I47AQSQDIVPTIG2Bos taurus, Mus musculus
I47AQSQNILPTIG1Homo sapiens
I47TRSQQIVPTVG1Caenorhabditis elegans
I47AQAQDIVPTIG1Danio rerio
K131LFFANKMDLRD4Homo sapiens, Danio rerio, Bos taurus, Mus musculus
K131VILANKMDIPG1Caenorhabditis elegans
K30LDNSGKTTIIN4Homo sapiens, Danio rerio, Bos taurus, Mus musculus
K30LDNSGKTTILN1Caenorhabditis elegans
L134ANKMDLRDAVT1Homo sapiens
L134ANKMDIPGAMT1Caenorhabditis elegans
L134ANKMDLRDALS1Danio rerio
L134ANKMDLRDALT1Bos taurus
L134ANKMDLRDSVT1Mus musculus
N130ILFFANKMDLR3Homo sapiens, Bos taurus, Mus musculus
N130IVILANKMDIP1Caenorhabditis elegans
N130LLFFANKMDLR1Danio rerio
N27CLGLDNSGKTT4Homo sapiens, Danio rerio, Bos taurus, Mus musculus
N27VVGLDNSGKTT1Caenorhabditis elegans
S28LGLDNSGKTTI4Homo sapiens, Danio rerio, Bos taurus, Mus musculus
S28VGLDNSGKTTI1Caenorhabditis elegans
S71TVFDMSGQGRY4Homo sapiens, Danio rerio, Bos taurus, Mus musculus
S71HAFDMAGQMKY1Caenorhabditis elegans
T31DNSGKTTIINK3Homo sapiens, Bos taurus, Mus musculus
T31DNSGKTTILNQ1Caenorhabditis elegans
T31DNSGKTTIINQ1Danio rerio
T32NSGKTTIINKL3Homo sapiens, Bos taurus, Mus musculus
T32NSGKTTILNQL1Caenorhabditis elegans
T32NSGKTTIINQL1Danio rerio
T50QDIVPTIGFSI3Danio rerio, Bos taurus, Mus musculus
T50QNILPTIGFSI1Homo sapiens
T50QQIVPTVGHVV1Caenorhabditis elegans

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