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AIM1L (absent in melanoma 1-like)

Identity

Alias_symbol (synonym)CRYBG2
FLJ38020
Other alias
HGNC (Hugo) AIM1L
LocusID (NCBI) 55057
Atlas_Id 53094
Location 1p36.11  [Link to chromosome band 1p36]
Location_base_pair Starts at 26648350 and ends at 26680621 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
S100A6 (1q21.3) / AIM1L (1p36.11)S100A6 1q21.3 / AIM1L 1p36.11

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)AIM1L   17295
Cards
Entrez_Gene (NCBI)AIM1L  55057  absent in melanoma 1-like
AliasesCRYBG2
GeneCards (Weizmann)AIM1L
Ensembl hg19 (Hinxton)ENSG00000176092 [Gene_View]  chr1:26648350-26680621 [Contig_View]  AIM1L [Vega]
Ensembl hg38 (Hinxton)ENSG00000176092 [Gene_View]  chr1:26648350-26680621 [Contig_View]  AIM1L [Vega]
ICGC DataPortalENSG00000176092
TCGA cBioPortalAIM1L
AceView (NCBI)AIM1L
Genatlas (Paris)AIM1L
WikiGenes55057
SOURCE (Princeton)AIM1L
Genetics Home Reference (NIH)AIM1L
Genomic and cartography
GoldenPath hg19 (UCSC)AIM1L  -     chr1:26648350-26680621 -  1p36.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AIM1L  -     1p36.11   [Description]    (hg38-Dec_2013)
EnsemblAIM1L - 1p36.11 [CytoView hg19]  AIM1L - 1p36.11 [CytoView hg38]
Mapping of homologs : NCBIAIM1L [Mapview hg19]  AIM1L [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK000902 AK095339 AL137264 BC136870 CD628848
RefSeq transcript (Entrez)NM_001039775 NM_017977
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)AIM1L
Cluster EST : UnigeneHs.128738 [ NCBI ]
CGAP (NCI)Hs.128738
Alternative Splicing GalleryENSG00000176092
Gene ExpressionAIM1L [ NCBI-GEO ]   AIM1L [ EBI - ARRAY_EXPRESS ]   AIM1L [ SEEK ]   AIM1L [ MEM ]
Gene Expression Viewer (FireBrowse)AIM1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55057
GTEX Portal (Tissue expression)AIM1L
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N1P7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N1P7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N1P7
Splice isoforms : SwissVarQ8N1P7
PhosPhoSitePlusQ8N1P7
Domaine pattern : Prosite (Expaxy)CRYSTALLIN_BETA_GAMMA (PS50915)    RICIN_B_LECTIN (PS50231)   
Domains : Interpro (EBI)Beta/gamma_crystallin    G_crystallin-rel    Ricin_B_lectin   
Domain families : Pfam (Sanger)Crystall (PF00030)    Ricin_B_lectin (PF00652)   
Domain families : Pfam (NCBI)pfam00030    pfam00652   
Domain families : Smart (EMBL)RICIN (SM00458)  XTALbg (SM00247)  
Conserved Domain (NCBI)AIM1L
DMDM Disease mutations55057
Blocks (Seattle)AIM1L
SuperfamilyQ8N1P7
Human Protein AtlasENSG00000176092
Peptide AtlasQ8N1P7
HPRD09794
IPIIPI00385717   IPI00166211   IPI00743842   IPI00973010   IPI00977415   
Protein Interaction databases
DIP (DOE-UCLA)Q8N1P7
IntAct (EBI)Q8N1P7
FunCoupENSG00000176092
BioGRIDAIM1L
STRING (EMBL)AIM1L
ZODIACAIM1L
Ontologies - Pathways
QuickGOQ8N1P7
Ontology : AmiGOcarbohydrate binding  
Ontology : EGO-EBIcarbohydrate binding  
NDEx NetworkAIM1L
Atlas of Cancer Signalling NetworkAIM1L
Wikipedia pathwaysAIM1L
Orthology - Evolution
OrthoDB55057
GeneTree (enSembl)ENSG00000176092
Phylogenetic Trees/Animal Genes : TreeFamAIM1L
HOVERGENQ8N1P7
HOGENOMQ8N1P7
Homologs : HomoloGeneAIM1L
Homology/Alignments : Family Browser (UCSC)AIM1L
Gene fusions - Rearrangements
Fusion : MitelmanS100A6/AIM1L [1q21.3/1p36.11]  [t(1;1)(p36;q21)]  
Fusion: TCGAS100A6 1q21.3 AIM1L 1p36.11 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAIM1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AIM1L
dbVarAIM1L
ClinVarAIM1L
1000_GenomesAIM1L 
Exome Variant ServerAIM1L
ExAC (Exome Aggregation Consortium)AIM1L (select the gene name)
Genetic variants : HAPMAP55057
Genomic Variants (DGV)AIM1L [DGVbeta]
DECIPHER (Syndromes)1:26648350-26680621  ENSG00000176092
CONAN: Copy Number AnalysisAIM1L 
Mutations
ICGC Data PortalAIM1L 
TCGA Data PortalAIM1L 
Broad Tumor PortalAIM1L
OASIS PortalAIM1L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAIM1L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAIM1L
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 AIM1L
DgiDB (Drug Gene Interaction Database)AIM1L
DoCM (Curated mutations)AIM1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AIM1L (select a term)
intoGenAIM1L
Cancer3DAIM1L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenAIM1L
Genetic Testing Registry AIM1L
NextProtQ8N1P7 [Medical]
TSGene55057
GENETestsAIM1L
Huge Navigator AIM1L [HugePedia]
snp3D : Map Gene to Disease55057
BioCentury BCIQAIM1L
ClinGenAIM1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55057
Chemical/Pharm GKB GenePA24650
Clinical trialAIM1L
Miscellaneous
canSAR (ICR)AIM1L (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAIM1L
EVEXAIM1L
GoPubMedAIM1L
iHOPAIM1L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:55:20 CET 2017

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