Atlas of Genetics and Cytogenetics in Oncology and Haematology

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COLQ (collagen like tail subunit of asymmetric acetylcholinesterase)

Identity

Alias_namescollagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
Alias_symbol (synonym)EAD
Other aliasCMS5
HGNC (Hugo) COLQ
LocusID (NCBI) 8292
Atlas_Id 62010
Location 3p25.1  [Link to chromosome band 3p25]
Location_base_pair Starts at 15450133 and ends at 15521751 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)
COLQ (3p25.1) / KLC2 (11q13.2)COLQ (3p25.1) / NICN1 (3p21.31)HACL1 (3p25.1) / COLQ (3p25.1)
LGALS4 (19q13.2) / COLQ (3p25.1)NR2C2 (3p25.1) / COLQ (3p25.1)

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(3;3)(p25;p25) HACL1/COLQ
t(3;3)(p25;p25) HACL1/COLQ

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 7 ]
  HACL1/COLQ (3p25)
HACL1/COLQ (3p25)
HACL1/COLQ (3p25)
HACL1/COLQ (3p25)
HACL1/COLQ (3p25)
HACL1/COLQ (3p25)
NR2C2/COLQ (3p25)

External links

Nomenclature
HGNC (Hugo)COLQ   2226
Cards
Entrez_Gene (NCBI)COLQ  8292  collagen like tail subunit of asymmetric acetylcholinesterase
AliasesCMS5; EAD
GeneCards (Weizmann)COLQ
Ensembl hg19 (Hinxton)ENSG00000206561 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000206561 [Gene_View]  ENSG00000206561 [Sequence]  chr3:15450133-15521751 [Contig_View]  COLQ [Vega]
ICGC DataPortalENSG00000206561
TCGA cBioPortalCOLQ
AceView (NCBI)COLQ
Genatlas (Paris)COLQ
WikiGenes8292
SOURCE (Princeton)COLQ
Genetics Home Reference (NIH)COLQ
Genomic and cartography
GoldenPath hg38 (UCSC)COLQ  -     chr3:15450133-15521751 -  3p25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COLQ  -     3p25.1   [Description]    (hg19-Feb_2009)
GoldenPathCOLQ - 3p25.1 [CytoView hg19]  COLQ - 3p25.1 [CytoView hg38]
ImmunoBaseENSG00000206561
Mapping of homologs : NCBICOLQ [Mapview hg19]  COLQ [Mapview hg38]
OMIM603033   603034   
Gene and transcription
Genbank (Entrez)AF057036 AI246303 AI554171 AJ225895 AK128401
RefSeq transcript (Entrez)NM_005677 NM_080538 NM_080539 NM_080540 NM_080541 NM_080542 NM_080543 NM_080544
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COLQ
Alternative Splicing GalleryENSG00000206561
Gene ExpressionCOLQ [ NCBI-GEO ]   COLQ [ EBI - ARRAY_EXPRESS ]   COLQ [ SEEK ]   COLQ [ MEM ]
Gene Expression Viewer (FireBrowse)COLQ [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8292
GTEX Portal (Tissue expression)COLQ
Human Protein AtlasENSG00000206561-COLQ [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y215   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y215  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y215
Splice isoforms : SwissVarQ9Y215
PhosPhoSitePlusQ9Y215
Domains : Interpro (EBI)Myxo_disulph_rpt   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)COLQ
DMDM Disease mutations8292
Blocks (Seattle)COLQ
PDB (RSDB)1VZJ   
PDB Europe1VZJ   
PDB (PDBSum)1VZJ   
PDB (IMB)1VZJ   
Structural Biology KnowledgeBase1VZJ   
SCOP (Structural Classification of Proteins)1VZJ   
CATH (Classification of proteins structures)1VZJ   
SuperfamilyQ9Y215
Human Protein Atlas [tissue]ENSG00000206561-COLQ [tissue]
Peptide AtlasQ9Y215
HPRD04328
IPIIPI00031687   IPI00220970   IPI00220971   IPI00220972   IPI00220973   IPI00220974   IPI00334651   IPI00220976   IPI00873025   IPI00953011   IPI01011001   IPI00925868   IPI00926306   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y215
IntAct (EBI)Q9Y215
FunCoupENSG00000206561
BioGRIDCOLQ
STRING (EMBL)COLQ
ZODIACCOLQ
Ontologies - Pathways
QuickGOQ9Y215
Ontology : AmiGOacetylcholine catabolic process in synaptic cleft  extracellular matrix structural constituent  extracellular matrix structural constituent  protein binding  collagen trimer  basement membrane  extracellular space  plasma membrane  heparin binding  regulation of synaptic growth at neuromuscular junction  cell junction  extracellular matrix organization  extracellular matrix  neuromuscular junction  synaptic cleft  collagen-containing extracellular matrix  skeletal muscle acetylcholine-gated channel clustering  establishment of protein localization to membrane  
Ontology : EGO-EBIacetylcholine catabolic process in synaptic cleft  extracellular matrix structural constituent  extracellular matrix structural constituent  protein binding  collagen trimer  basement membrane  extracellular space  plasma membrane  heparin binding  regulation of synaptic growth at neuromuscular junction  cell junction  extracellular matrix organization  extracellular matrix  neuromuscular junction  synaptic cleft  collagen-containing extracellular matrix  skeletal muscle acetylcholine-gated channel clustering  establishment of protein localization to membrane  
NDEx NetworkCOLQ
Atlas of Cancer Signalling NetworkCOLQ
Wikipedia pathwaysCOLQ
Orthology - Evolution
OrthoDB8292
GeneTree (enSembl)ENSG00000206561
Phylogenetic Trees/Animal Genes : TreeFamCOLQ
HOGENOMQ9Y215
Homologs : HomoloGeneCOLQ
Homology/Alignments : Family Browser (UCSC)COLQ
Gene fusions - Rearrangements
Fusion : QuiverCOLQ
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOLQ [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COLQ
dbVarCOLQ
ClinVarCOLQ
1000_GenomesCOLQ 
Exome Variant ServerCOLQ
ExAC (Exome Aggregation Consortium)ENSG00000206561
GNOMAD BrowserENSG00000206561
Varsome BrowserCOLQ
Genetic variants : HAPMAP8292
Genomic Variants (DGV)COLQ [DGVbeta]
DECIPHERCOLQ [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOLQ 
Mutations
ICGC Data PortalCOLQ 
TCGA Data PortalCOLQ 
Broad Tumor PortalCOLQ
OASIS PortalCOLQ [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOLQ  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCOLQ
Mutations and Diseases : HGMDCOLQ
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch COLQ
DgiDB (Drug Gene Interaction Database)COLQ
DoCM (Curated mutations)COLQ (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COLQ (select a term)
intoGenCOLQ
Cancer3DCOLQ(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603033    603034   
Orphanet13932   
DisGeNETCOLQ
MedgenCOLQ
Genetic Testing Registry COLQ
NextProtQ9Y215 [Medical]
TSGene8292
GENETestsCOLQ
Target ValidationCOLQ
Huge Navigator COLQ [HugePedia]
snp3D : Map Gene to Disease8292
BioCentury BCIQCOLQ
ClinGenCOLQ
Clinical trials, drugs, therapy
Protein Interactions : CTD8292
Pharm GKB GenePA26743
Clinical trialCOLQ
Miscellaneous
canSAR (ICR)COLQ (select the gene name)
HarmonizomeCOLQ
DataMed IndexCOLQ
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOLQ
EVEXCOLQ
GoPubMedCOLQ
iHOPCOLQ
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Jun 30 19:37:27 CEST 2020
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