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AVIL (advillin)

Identity

Alias_symbol (synonym)p92
FLJ12386
ADVIL
DOC6
Other alias
HGNC (Hugo) AVIL
LocusID (NCBI) 10677
Atlas_Id 54148
Location 12q14.1  [Link to chromosome band 12q14]
Location_base_pair Starts at 57797376 and ends at 57816069 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARHGAP9 (12q13.3) / AVIL (12q14.1)AVIL (12q14.1) / HIP1R (12q24.31)DCTN2 (12q13.3) / AVIL (12q14.1)
MARS (12q13.3) / AVIL (12q14.1)NDUFA4L2 (12q13.3) / AVIL (12q14.1)TMEM120B (12q24.31) / AVIL (12q14.1)
UNK (17q25.1) / AVIL (12q14.1)AVIL 12q14.1 / HIP1R 12q24.31NDUFA4L2 12q13.3 / AVIL 12q14.1
TMEM120B 12q24.31 / AVIL 12q14.1UNK 17q25.1 / AVIL 12q14.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)AVIL   14188
Cards
Entrez_Gene (NCBI)AVIL  10677  advillin
AliasesADVIL; DOC6; p92
GeneCards (Weizmann)AVIL
Ensembl hg19 (Hinxton)ENSG00000135407 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135407 [Gene_View]  chr12:57797376-57816069 [Contig_View]  AVIL [Vega]
ICGC DataPortalENSG00000135407
TCGA cBioPortalAVIL
AceView (NCBI)AVIL
Genatlas (Paris)AVIL
WikiGenes10677
SOURCE (Princeton)AVIL
Genetics Home Reference (NIH)AVIL
Genomic and cartography
GoldenPath hg38 (UCSC)AVIL  -     chr12:57797376-57816069 -  12q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AVIL  -     12q14.1   [Description]    (hg19-Feb_2009)
EnsemblAVIL - 12q14.1 [CytoView hg19]  AVIL - 12q14.1 [CytoView hg38]
Mapping of homologs : NCBIAVIL [Mapview hg19]  AVIL [Mapview hg38]
OMIM613397   
Gene and transcription
Genbank (Entrez)AF041449 AK022448 AK314362 BC111730 BX647344
RefSeq transcript (Entrez)NM_006576
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AVIL
Cluster EST : UnigeneHs.584854 [ NCBI ]
CGAP (NCI)Hs.584854
Alternative Splicing GalleryENSG00000135407
Gene ExpressionAVIL [ NCBI-GEO ]   AVIL [ EBI - ARRAY_EXPRESS ]   AVIL [ SEEK ]   AVIL [ MEM ]
Gene Expression Viewer (FireBrowse)AVIL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10677
GTEX Portal (Tissue expression)AVIL
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75366   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75366  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75366
Splice isoforms : SwissVarO75366
PhosPhoSitePlusO75366
Domaine pattern : Prosite (Expaxy)HP (PS51089)   
Domains : Interpro (EBI)ADF-H/Gelsolin-like_dom    Advillin    Gelsolin-like_dom    Villin/Gelsolin    Villin_headpiece   
Domain families : Pfam (Sanger)Gelsolin (PF00626)    VHP (PF02209)   
Domain families : Pfam (NCBI)pfam00626    pfam02209   
Domain families : Smart (EMBL)GEL (SM00262)  VHP (SM00153)  
Conserved Domain (NCBI)AVIL
DMDM Disease mutations10677
Blocks (Seattle)AVIL
PDB (SRS)1UND   
PDB (PDBSum)1UND   
PDB (IMB)1UND   
PDB (RSDB)1UND   
Structural Biology KnowledgeBase1UND   
SCOP (Structural Classification of Proteins)1UND   
CATH (Classification of proteins structures)1UND   
SuperfamilyO75366
Human Protein AtlasENSG00000135407
Peptide AtlasO75366
HPRD09816
IPIIPI00289330   IPI00791035   IPI01022582   IPI01022120   
Protein Interaction databases
DIP (DOE-UCLA)O75366
IntAct (EBI)O75366
FunCoupENSG00000135407
BioGRIDAVIL
STRING (EMBL)AVIL
ZODIACAVIL
Ontologies - Pathways
QuickGOO75366
Ontology : AmiGOactin binding  cytoplasm  cytoskeleton organization  nervous system development  positive regulation of neuron projection development  actin cytoskeleton  axon  cell projection  neuron projection  actin filament capping  cilium assembly  
Ontology : EGO-EBIactin binding  cytoplasm  cytoskeleton organization  nervous system development  positive regulation of neuron projection development  actin cytoskeleton  axon  cell projection  neuron projection  actin filament capping  cilium assembly  
NDEx NetworkAVIL
Atlas of Cancer Signalling NetworkAVIL
Wikipedia pathwaysAVIL
Orthology - Evolution
OrthoDB10677
GeneTree (enSembl)ENSG00000135407
Phylogenetic Trees/Animal Genes : TreeFamAVIL
HOVERGENO75366
HOGENOMO75366
Homologs : HomoloGeneAVIL
Homology/Alignments : Family Browser (UCSC)AVIL
Gene fusions - Rearrangements
Fusion : MitelmanAVIL/HIP1R [12q14.1/12q24.31]  
Fusion : MitelmanNDUFA4L2/AVIL [12q13.3/12q14.1]  [t(12;12)(q13;q14)]  
Fusion : MitelmanTMEM120B/AVIL [12q24.31/12q14.1]  [t(12;12)(q14;q24)]  
Fusion : MitelmanUNK/AVIL [17q25.1/12q14.1]  [t(12;17)(q14;q25)]  
Fusion: TCGAAVIL 12q14.1 HIP1R 12q24.31 GBM
Fusion: TCGANDUFA4L2 12q13.3 AVIL 12q14.1 GBM
Fusion: TCGATMEM120B 12q24.31 AVIL 12q14.1 GBM
Fusion: TCGAUNK 17q25.1 AVIL 12q14.1 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAVIL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AVIL
dbVarAVIL
ClinVarAVIL
1000_GenomesAVIL 
Exome Variant ServerAVIL
ExAC (Exome Aggregation Consortium)AVIL (select the gene name)
Genetic variants : HAPMAP10677
Genomic Variants (DGV)AVIL [DGVbeta]
DECIPHERAVIL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAVIL 
Mutations
ICGC Data PortalAVIL 
TCGA Data PortalAVIL 
Broad Tumor PortalAVIL
OASIS PortalAVIL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAVIL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAVIL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch AVIL
DgiDB (Drug Gene Interaction Database)AVIL
DoCM (Curated mutations)AVIL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AVIL (select a term)
intoGenAVIL
Cancer3DAVIL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613397   
Orphanet
MedgenAVIL
Genetic Testing Registry AVIL
NextProtO75366 [Medical]
TSGene10677
GENETestsAVIL
Huge Navigator AVIL [HugePedia]
snp3D : Map Gene to Disease10677
BioCentury BCIQAVIL
ClinGenAVIL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10677
Chemical/Pharm GKB GenePA38380
Clinical trialAVIL
Miscellaneous
canSAR (ICR)AVIL (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAVIL
EVEXAVIL
GoPubMedAVIL
iHOPAVIL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:07:19 CEST 2017

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