Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CHL1 (cell adhesion molecule L1 like)

Identity

Alias (NCBI)CALL
L1CAM2
HGNC (Hugo) CHL1
HGNC Alias symbCALL
L1CAM2
FLJ44930
MGC132578
HGNC Alias nameneural cell adhesion molecule
 close homolog of L1
HGNC Previous namecell adhesion molecule with homology to L1CAM (close homologue of L1)
 cell adhesion molecule with homology to L1CAM (close homolog of L1)
 cell adhesion molecule L1-like
LocusID (NCBI) 10752
Atlas_Id 40076
Location 3p26.3  [Link to chromosome band 3p26]
Location_base_pair Starts at 196763 and ends at 409414 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)
ADAMTS9 (3p14.1) / CHL1 (3p26.3)CHL1 (3p26.3) / CHL1 (3p26.3)CHL1 (3p26.3) / ELAC1 (18q21.2)
VGLL4 (3p25.3) / CHL1 (3p26.3)ADAMTS9 3p14.1 / CHL1 3p26.3VGLL4 3p25.3 / CHL1 3p26.3

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) [ 2 ]
  t(3;3)(p14;p26) ADAMTS9/CHL1
t(3;3)(p25;p26) VGLL4/CHL1

External links

Nomenclature
HGNC (Hugo)CHL1   1939
Cards
Entrez_Gene (NCBI)CHL1    cell adhesion molecule L1 like
AliasesCALL; L1CAM2
GeneCards (Weizmann)CHL1
Ensembl hg19 (Hinxton)ENSG00000134121 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000134121 [Gene_View]  ENSG00000134121 [Sequence]  chr3:196763-409414 [Contig_View]  CHL1 [Vega]
ICGC DataPortalENSG00000134121
TCGA cBioPortalCHL1
AceView (NCBI)CHL1
Genatlas (Paris)CHL1
SOURCE (Princeton)CHL1
Genetics Home Reference (NIH)CHL1
Genomic and cartography
GoldenPath hg38 (UCSC)CHL1  -     chr3:196763-409414 +  3p26.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHL1  -     3p26.3   [Description]    (hg19-Feb_2009)
GoldenPathCHL1 - 3p26.3 [CytoView hg19]  CHL1 - 3p26.3 [CytoView hg38]
ImmunoBaseENSG00000134121
genome Data Viewer NCBICHL1 [Mapview hg19]  
OMIM607416   
Gene and transcription
Genbank (Entrez)AB209329 AF002246 AK055236 AK126878 AL359583
RefSeq transcript (Entrez)NM_001253387 NM_001253388 NM_006614
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHL1
Alternative Splicing GalleryENSG00000134121
Gene ExpressionCHL1 [ NCBI-GEO ]   CHL1 [ EBI - ARRAY_EXPRESS ]   CHL1 [ SEEK ]   CHL1 [ MEM ]
Gene Expression Viewer (FireBrowse)CHL1 [ Firebrowse - Broad ]
GenevisibleExpression of CHL1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10752
GTEX Portal (Tissue expression)CHL1
Human Protein AtlasENSG00000134121-CHL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00533   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00533  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00533
Splice isoforms : SwissVarO00533
PhosPhoSitePlusO00533
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)FN3_dom    FN3_sf    Ig-like_dom    Ig-like_dom_sf    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    Immunoglobulin    Neurofascin/L1/NrCAM_C   
Domain families : Pfam (Sanger)Bravo_FIGEY (PF13882)    fn3 (PF00041)    I-set (PF07679)    ig (PF00047)   
Domain families : Pfam (NCBI)pfam13882    pfam00041    pfam07679    pfam00047   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)CHL1
Blocks (Seattle)CHL1
SuperfamilyO00533
Human Protein Atlas [tissue]ENSG00000134121-CHL1 [tissue]
Peptide AtlasO00533
HPRD07598
IPIIPI00783390   IPI00299059   IPI00924426   IPI00927259   IPI00927924   IPI00925181   IPI00924980   IPI00924657   
Protein Interaction databases
DIP (DOE-UCLA)O00533
IntAct (EBI)O00533
BioGRIDCHL1
STRING (EMBL)CHL1
ZODIACCHL1
Ontologies - Pathways
QuickGOO00533
Ontology : AmiGOneuron migration  protease binding  plasma membrane  cell adhesion  signal transduction  axon guidance  adult locomotory behavior  integral component of membrane  dendrite  exploration behavior  negative regulation of neuron apoptotic process  apical part of cell  cognition  extracellular exosome  
Ontology : EGO-EBIneuron migration  protease binding  plasma membrane  cell adhesion  signal transduction  axon guidance  adult locomotory behavior  integral component of membrane  dendrite  exploration behavior  negative regulation of neuron apoptotic process  apical part of cell  cognition  extracellular exosome  
NDEx NetworkCHL1
Atlas of Cancer Signalling NetworkCHL1
Wikipedia pathwaysCHL1
Orthology - Evolution
OrthoDB10752
GeneTree (enSembl)ENSG00000134121
Phylogenetic Trees/Animal Genes : TreeFamCHL1
HOGENOMO00533
Homologs : HomoloGeneCHL1
Homology/Alignments : Family Browser (UCSC)CHL1
Gene fusions - Rearrangements
Fusion : MitelmanADAMTS9/CHL1 [3p14.1/3p26.3]  
Fusion : MitelmanVGLL4/CHL1 [3p25.3/3p26.3]  
Fusion PortalADAMTS9 3p14.1 CHL1 3p26.3 LUAD
Fusion PortalVGLL4 3p25.3 CHL1 3p26.3 HNSC
Fusion : QuiverCHL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHL1 [hg38]
dbVarCHL1
ClinVarCHL1
MonarchCHL1
1000_GenomesCHL1 
Exome Variant ServerCHL1
GNOMAD BrowserENSG00000134121
Varsome BrowserCHL1
Genomic Variants (DGV)CHL1 [DGVbeta]
DECIPHERCHL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHL1 
Mutations
ICGC Data PortalCHL1 
TCGA Data PortalCHL1 
Broad Tumor PortalCHL1
OASIS PortalCHL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHL1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCHL1
Mutations and Diseases : HGMDCHL1
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 CHL1
DgiDB (Drug Gene Interaction Database)CHL1
DoCM (Curated mutations)CHL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHL1 (select a term)
intoGenCHL1
Cancer3DCHL1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607416   
Orphanet1114   
DisGeNETCHL1
MedgenCHL1
Genetic Testing Registry CHL1
NextProtO00533 [Medical]
GENETestsCHL1
Target ValidationCHL1
Huge Navigator CHL1 [HugePedia]
ClinGenCHL1
Clinical trials, drugs, therapy
MyCancerGenomeCHL1
Protein Interactions : CTD
Pharm GKB GenePA26470
PharosO00533
Clinical trialCHL1
Miscellaneous
canSAR (ICR)CHL1 (select the gene name)
HarmonizomeCHL1
DataMed IndexCHL1
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCHL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jan 1 18:09:59 CET 2021
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