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ATXN7L1 (ataxin 7 like 1)

Identity

Alias_namesATXN7L4
ataxin 7-like 4
ataxin 7-like 1
Alias_symbol (synonym)KIAA1218
MGC33190
Other alias
HGNC (Hugo) ATXN7L1
LocusID (NCBI) 222255
Atlas_Id 60660
Location 7q22.3  [Link to chromosome band 7q22]
Location_base_pair Starts at 105613474 and ends at 105679201 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ATXN7L1 (7q22.3) / AGBL3 (7q33)ATXN7L1 (7q22.3) / ATXN7L1 (7q22.3)ATXN7L1 (7q22.3) / GRM8 (7q31.33)
JPX (Xq13.2) / ATXN7L1 (7q22.3)LAMB1 (7q31.1) / ATXN7L1 (7q22.3)SRPK2 (7q22.3) / ATXN7L1 (7q22.3)
TICRR (15q26.1) / ATXN7L1 (7q22.3)C15orf42 ATXN7L1LAMB1 ATXN7L1

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)ATXN7L1   22210
Cards
Entrez_Gene (NCBI)ATXN7L1  222255  ataxin 7 like 1
AliasesATXN7L4
GeneCards (Weizmann)ATXN7L1
Ensembl hg19 (Hinxton)ENSG00000146776 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146776 [Gene_View]  chr7:105613474-105679201 [Contig_View]  ATXN7L1 [Vega]
ICGC DataPortalENSG00000146776
TCGA cBioPortalATXN7L1
AceView (NCBI)ATXN7L1
Genatlas (Paris)ATXN7L1
WikiGenes222255
SOURCE (Princeton)ATXN7L1
Genetics Home Reference (NIH)ATXN7L1
Genomic and cartography
GoldenPath hg38 (UCSC)ATXN7L1  -     chr7:105613474-105679201 -  7q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATXN7L1  -     7q22.3   [Description]    (hg19-Feb_2009)
EnsemblATXN7L1 - 7q22.3 [CytoView hg19]  ATXN7L1 - 7q22.3 [CytoView hg38]
Mapping of homologs : NCBIATXN7L1 [Mapview hg19]  ATXN7L1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB033044 AK027276 AK095475 AK097574 AK300338
RefSeq transcript (Entrez)NM_001318229 NM_020725 NM_138495 NM_152749
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATXN7L1
Cluster EST : UnigeneHs.745056 [ NCBI ]
CGAP (NCI)Hs.745056
Alternative Splicing GalleryENSG00000146776
Gene ExpressionATXN7L1 [ NCBI-GEO ]   ATXN7L1 [ EBI - ARRAY_EXPRESS ]   ATXN7L1 [ SEEK ]   ATXN7L1 [ MEM ]
Gene Expression Viewer (FireBrowse)ATXN7L1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)222255
GTEX Portal (Tissue expression)ATXN7L1
Human Protein AtlasENSG00000146776-ATXN7L1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9ULK2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9ULK2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9ULK2
Splice isoforms : SwissVarQ9ULK2
PhosPhoSitePlusQ9ULK2
Domaine pattern : Prosite (Expaxy)SCA7 (PS51505)   
Domains : Interpro (EBI)SCA7_dom   
Domain families : Pfam (Sanger)SCA7 (PF08313)   
Domain families : Pfam (NCBI)pfam08313   
Conserved Domain (NCBI)ATXN7L1
DMDM Disease mutations222255
Blocks (Seattle)ATXN7L1
SuperfamilyQ9ULK2
Human Protein Atlas [tissue]ENSG00000146776-ATXN7L1 [tissue]
Peptide AtlasQ9ULK2
HPRD12508
IPIIPI00945624   IPI00181584   IPI00941558   IPI00397389   IPI00908548   IPI00946917   IPI00946729   
Protein Interaction databases
DIP (DOE-UCLA)Q9ULK2
IntAct (EBI)Q9ULK2
FunCoupENSG00000146776
BioGRIDATXN7L1
STRING (EMBL)ATXN7L1
ZODIACATXN7L1
Ontologies - Pathways
QuickGOQ9ULK2
Ontology : AmiGOprotein binding  
Ontology : EGO-EBIprotein binding  
NDEx NetworkATXN7L1
Atlas of Cancer Signalling NetworkATXN7L1
Wikipedia pathwaysATXN7L1
Orthology - Evolution
OrthoDB222255
GeneTree (enSembl)ENSG00000146776
Phylogenetic Trees/Animal Genes : TreeFamATXN7L1
HOVERGENQ9ULK2
HOGENOMQ9ULK2
Homologs : HomoloGeneATXN7L1
Homology/Alignments : Family Browser (UCSC)ATXN7L1
Gene fusions - Rearrangements
Fusion: TCGAC15orf42 ATXN7L1
Fusion: TCGALAMB1 ATXN7L1
Fusion: Tumor Portal ATXN7L1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATXN7L1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATXN7L1
dbVarATXN7L1
ClinVarATXN7L1
1000_GenomesATXN7L1 
Exome Variant ServerATXN7L1
ExAC (Exome Aggregation Consortium)ENSG00000146776
GNOMAD BrowserENSG00000146776
Genetic variants : HAPMAP222255
Genomic Variants (DGV)ATXN7L1 [DGVbeta]
DECIPHERATXN7L1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATXN7L1 
Mutations
ICGC Data PortalATXN7L1 
TCGA Data PortalATXN7L1 
Broad Tumor PortalATXN7L1
OASIS PortalATXN7L1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATXN7L1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATXN7L1
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 ATXN7L1
DgiDB (Drug Gene Interaction Database)ATXN7L1
DoCM (Curated mutations)ATXN7L1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATXN7L1 (select a term)
intoGenATXN7L1
Cancer3DATXN7L1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenATXN7L1
Genetic Testing Registry ATXN7L1
NextProtQ9ULK2 [Medical]
TSGene222255
GENETestsATXN7L1
Target ValidationATXN7L1
Huge Navigator ATXN7L1 [HugePedia]
snp3D : Map Gene to Disease222255
BioCentury BCIQATXN7L1
ClinGenATXN7L1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD222255
Chemical/Pharm GKB GenePA134884892
Clinical trialATXN7L1
Miscellaneous
canSAR (ICR)ATXN7L1 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATXN7L1
EVEXATXN7L1
GoPubMedATXN7L1
iHOPATXN7L1
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 : Thu Nov 9 11:38:45 CET 2017

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