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HMGCLL1 (3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1)

Identity

Alias_names3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1
Alias_symbol (synonym)DKFZP434G1411
bA418P12.1
Other aliaser-cHL
HGNC (Hugo) HMGCLL1
LocusID (NCBI) 54511
Atlas_Id 64348
Location 6p12.1  [Link to chromosome band 6p12]
Location_base_pair Starts at 55434373 and ends at 55579214 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)
ATXN1 (6p22.3) / HMGCLL1 (6p12.1)ELOVL5 (6p12.1) / HMGCLL1 (6p12.1)HMGCLL1 (6p12.1) / GTPBP1 (22q13.1)
TMEM181 (6q25.3) / HMGCLL1 (6p12.1)TMEM181 HMGCLL1ATXN1 HMGCLL1
ELOVL5 HMGCLL1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(6;6)(p12;p12) ELOVL5/HMGCLL1
t(6;6)(p12;p22) ATXN1/HMGCLL1
t(6;6)(p12;q25) TMEM181/HMGCLL1


External links

Nomenclature
HGNC (Hugo)HMGCLL1   21359
Cards
Entrez_Gene (NCBI)HMGCLL1  54511  3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1
AliasesbA418P12.1; er-cHL
GeneCards (Weizmann)HMGCLL1
Ensembl hg19 (Hinxton)ENSG00000146151 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146151 [Gene_View]  ENSG00000146151 [Sequence]  chr6:55434373-55579214 [Contig_View]  HMGCLL1 [Vega]
ICGC DataPortalENSG00000146151
TCGA cBioPortalHMGCLL1
AceView (NCBI)HMGCLL1
Genatlas (Paris)HMGCLL1
WikiGenes54511
SOURCE (Princeton)HMGCLL1
Genetics Home Reference (NIH)HMGCLL1
Genomic and cartography
GoldenPath hg38 (UCSC)HMGCLL1  -     chr6:55434373-55579214 -  6p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HMGCLL1  -     6p12.1   [Description]    (hg19-Feb_2009)
EnsemblHMGCLL1 - 6p12.1 [CytoView hg19]  HMGCLL1 - 6p12.1 [CytoView hg38]
Mapping of homologs : NCBIHMGCLL1 [Mapview hg19]  HMGCLL1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF131827 AK055075 AK127587 AK293856 AK294210
RefSeq transcript (Entrez)NM_001042406 NM_001287741 NM_001287746 NM_001287753 NM_019036
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HMGCLL1
Cluster EST : UnigeneHs.147054 [ NCBI ]
CGAP (NCI)Hs.147054
Alternative Splicing GalleryENSG00000146151
Gene ExpressionHMGCLL1 [ NCBI-GEO ]   HMGCLL1 [ EBI - ARRAY_EXPRESS ]   HMGCLL1 [ SEEK ]   HMGCLL1 [ MEM ]
Gene Expression Viewer (FireBrowse)HMGCLL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54511
GTEX Portal (Tissue expression)HMGCLL1
Human Protein AtlasENSG00000146151-HMGCLL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TB92   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TB92  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TB92
Splice isoforms : SwissVarQ8TB92
Catalytic activity : Enzyme4.1.3.4 [ Enzyme-Expasy ]   4.1.3.44.1.3.4 [ IntEnz-EBI ]   4.1.3.4 [ BRENDA ]   4.1.3.4 [ KEGG ]   
PhosPhoSitePlusQ8TB92
Domaine pattern : Prosite (Expaxy)PYR_CT (PS50991)   
Domains : Interpro (EBI)Aldolase_TIM    er-cHL    PYR_CT   
Domain families : Pfam (Sanger)HMGL-like (PF00682)   
Domain families : Pfam (NCBI)pfam00682   
Conserved Domain (NCBI)HMGCLL1
DMDM Disease mutations54511
Blocks (Seattle)HMGCLL1
SuperfamilyQ8TB92
Human Protein Atlas [tissue]ENSG00000146151-HMGCLL1 [tissue]
Peptide AtlasQ8TB92
HPRD13663
IPIIPI00477259   IPI00794213   IPI00944494   IPI00017610   IPI00922767   IPI00922227   IPI00966391   IPI00966267   
Protein Interaction databases
DIP (DOE-UCLA)Q8TB92
IntAct (EBI)Q8TB92
FunCoupENSG00000146151
BioGRIDHMGCLL1
STRING (EMBL)HMGCLL1
ZODIACHMGCLL1
Ontologies - Pathways
QuickGOQ8TB92
Ontology : AmiGO###############################################################################################################################################################################################################################################################                          
Ontology : EGO-EBI###############################################################################################################################################################################################################################################################                          
NDEx NetworkHMGCLL1
Atlas of Cancer Signalling NetworkHMGCLL1
Wikipedia pathwaysHMGCLL1
Orthology - Evolution
OrthoDB54511
GeneTree (enSembl)ENSG00000146151
Phylogenetic Trees/Animal Genes : TreeFamHMGCLL1
HOVERGENQ8TB92
HOGENOMQ8TB92
Homologs : HomoloGeneHMGCLL1
Homology/Alignments : Family Browser (UCSC)HMGCLL1
Gene fusions - Rearrangements
Fusion PortalTMEM181 HMGCLL1
Fusion PortalATXN1 HMGCLL1
Fusion PortalELOVL5 HMGCLL1
Fusion : QuiverHMGCLL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHMGCLL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HMGCLL1
dbVarHMGCLL1
ClinVarHMGCLL1
1000_GenomesHMGCLL1 
Exome Variant ServerHMGCLL1
ExAC (Exome Aggregation Consortium)ENSG00000146151
GNOMAD BrowserENSG00000146151
Varsome BrowserHMGCLL1
Genetic variants : HAPMAP54511
Genomic Variants (DGV)HMGCLL1 [DGVbeta]
DECIPHERHMGCLL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHMGCLL1 
Mutations
ICGC Data PortalHMGCLL1 
TCGA Data PortalHMGCLL1 
Broad Tumor PortalHMGCLL1
OASIS PortalHMGCLL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHMGCLL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHMGCLL1
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 HMGCLL1
DgiDB (Drug Gene Interaction Database)HMGCLL1
DoCM (Curated mutations)HMGCLL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HMGCLL1 (select a term)
intoGenHMGCLL1
Cancer3DHMGCLL1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETHMGCLL1
MedgenHMGCLL1
Genetic Testing Registry HMGCLL1
NextProtQ8TB92 [Medical]
TSGene54511
GENETestsHMGCLL1
Target ValidationHMGCLL1
Huge Navigator HMGCLL1 [HugePedia]
snp3D : Map Gene to Disease54511
BioCentury BCIQHMGCLL1
ClinGenHMGCLL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54511
Chemical/Pharm GKB GenePA134989971
Clinical trialHMGCLL1
Miscellaneous
canSAR (ICR)HMGCLL1 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHMGCLL1
EVEXHMGCLL1
GoPubMedHMGCLL1
iHOPHMGCLL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jul 30 13:49:06 CEST 2018

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