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AFG1L (AFG1 like ATPase)

Identity

Other aliasAFG1
LACE1
c222389
HGNC (Hugo) AFG1L
LocusID (NCBI) 246269
Atlas_Id 57583
Location 6q21  [Link to chromosome band 6q21]
Location_base_pair Starts at 108294874 and ends at 108525784 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)

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)AFG1L   16411
Cards
Entrez_Gene (NCBI)AFG1L  246269  AFG1 like ATPase
AliasesAFG1; LACE1; c222389
GeneCards (Weizmann)AFG1L
Ensembl hg19 (Hinxton)ENSG00000135537 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135537 [Gene_View]  ENSG00000135537 [Sequence]  chr6:108294874-108525784 [Contig_View]  AFG1L [Vega]
ICGC DataPortalENSG00000135537
TCGA cBioPortalAFG1L
AceView (NCBI)AFG1L
Genatlas (Paris)AFG1L
WikiGenes246269
SOURCE (Princeton)AFG1L
Genetics Home Reference (NIH)AFG1L
Genomic and cartography
GoldenPath hg38 (UCSC)AFG1L  -     chr6:108294874-108525784 +  6q21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AFG1L  -     6q21   [Description]    (hg19-Feb_2009)
EnsemblAFG1L - 6q21 [CytoView hg19]  AFG1L - 6q21 [CytoView hg38]
Mapping of homologs : NCBIAFG1L [Mapview hg19]  AFG1L [Mapview hg38]
OMIM617469   
Gene and transcription
Genbank (Entrez)AF520418 AL832793 BC018445 BI754108 BP246728
RefSeq transcript (Entrez)NM_001323005 NM_145315
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AFG1L
Cluster EST : UnigeneHs.259666 [ NCBI ]
CGAP (NCI)Hs.259666
Alternative Splicing GalleryENSG00000135537
Gene ExpressionAFG1L [ NCBI-GEO ]   AFG1L [ EBI - ARRAY_EXPRESS ]   AFG1L [ SEEK ]   AFG1L [ MEM ]
Gene Expression Viewer (FireBrowse)AFG1L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)246269
GTEX Portal (Tissue expression)AFG1L
Human Protein AtlasENSG00000135537-AFG1L [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WV93   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WV93  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WV93
Splice isoforms : SwissVarQ8WV93
PhosPhoSitePlusQ8WV93
Domains : Interpro (EBI)ATPase_AFG1-like    P-loop_NTPase   
Domain families : Pfam (Sanger)AFG1_ATPase (PF03969)   
Domain families : Pfam (NCBI)pfam03969   
Conserved Domain (NCBI)AFG1L
DMDM Disease mutations246269
Blocks (Seattle)AFG1L
SuperfamilyQ8WV93
Human Protein Atlas [tissue]ENSG00000135537-AFG1L [tissue]
Peptide AtlasQ8WV93
IPIIPI00166976   IPI00853026   IPI00852896   IPI00893462   IPI00892797   
Protein Interaction databases
DIP (DOE-UCLA)Q8WV93
IntAct (EBI)Q8WV93
FunCoupENSG00000135537
BioGRIDAFG1L
STRING (EMBL)AFG1L
ZODIACAFG1L
Ontologies - Pathways
QuickGOQ8WV93
Ontology : AmiGOprotein binding  ATP binding  cytoplasm  mitochondrion  mitochondrion  mitochondrial electron transport, cytochrome c to oxygen  mitochondrion organization  ATPase activity  mitochondrial membrane  mitochondrial protein catabolic process  
Ontology : EGO-EBIprotein binding  ATP binding  cytoplasm  mitochondrion  mitochondrion  mitochondrial electron transport, cytochrome c to oxygen  mitochondrion organization  ATPase activity  mitochondrial membrane  mitochondrial protein catabolic process  
NDEx NetworkAFG1L
Atlas of Cancer Signalling NetworkAFG1L
Wikipedia pathwaysAFG1L
Orthology - Evolution
OrthoDB246269
GeneTree (enSembl)ENSG00000135537
Phylogenetic Trees/Animal Genes : TreeFamAFG1L
HOVERGENQ8WV93
HOGENOMQ8WV93
Homologs : HomoloGeneAFG1L
Homology/Alignments : Family Browser (UCSC)AFG1L
Gene fusions - Rearrangements
Fusion : QuiverAFG1L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAFG1L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AFG1L
dbVarAFG1L
ClinVarAFG1L
1000_GenomesAFG1L 
Exome Variant ServerAFG1L
ExAC (Exome Aggregation Consortium)ENSG00000135537
GNOMAD BrowserENSG00000135537
Varsome BrowserAFG1L
Genetic variants : HAPMAP246269
Genomic Variants (DGV)AFG1L [DGVbeta]
DECIPHERAFG1L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAFG1L 
Mutations
ICGC Data PortalAFG1L 
TCGA Data PortalAFG1L 
Broad Tumor PortalAFG1L
OASIS PortalAFG1L [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDAFG1L
BioMutasearch AFG1L
DgiDB (Drug Gene Interaction Database)AFG1L
DoCM (Curated mutations)AFG1L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AFG1L (select a term)
intoGenAFG1L
Cancer3DAFG1L(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617469   
Orphanet
DisGeNETAFG1L
MedgenAFG1L
Genetic Testing Registry AFG1L
NextProtQ8WV93 [Medical]
TSGene246269
GENETestsAFG1L
Target ValidationAFG1L
Huge Navigator AFG1L [HugePedia]
snp3D : Map Gene to Disease246269
BioCentury BCIQAFG1L
ClinGenAFG1L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD246269
Chemical/Pharm GKB GenePA38404
Clinical trialAFG1L
Miscellaneous
canSAR (ICR)AFG1L (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAFG1L
EVEXAFG1L
GoPubMedAFG1L
iHOPAFG1L
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 : Tue Nov 6 10:50:13 CET 2018

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