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HMCN1 (hemicentin 1)

Identity

Alias_namesARMD1
age-related macular degeneration 1 (senile macular degeneration)
Alias_symbol (synonym)FBLN6
FIBL6
FIBL-6
Other alias
HGNC (Hugo) HMCN1
LocusID (NCBI) 83872
Atlas_Id 54363
Location 1q25.3  [Link to chromosome band 1q25]
Location_base_pair Starts at 185734551 and ends at 186190953 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HMCN1 (1q25.3) / ETNK1 (12p12.1)HMCN1 (1q25.3) / RNF2 (1q25.3)PRKAR2B (7q22.3) / HMCN1 (1q25.3)
PTPRZ1 (7q31.32) / HMCN1 (1q25.3)RGL1 (1q25.3) / HMCN1 (1q25.3)TMCC2 (1q32.1) / HMCN1 (1q25.3)
HMCN1 1q25.3 / RNF2 1q25.3PRKAR2B 7q22.3 / HMCN1 1q25.3RGL1 1q25.3 / HMCN1 1q25.3
TMCC2 1q32.1 / HMCN1 1q25.3

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) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)HMCN1   19194
Cards
Entrez_Gene (NCBI)HMCN1  83872  hemicentin 1
AliasesARMD1; FBLN6; FIBL-6; FIBL6
GeneCards (Weizmann)HMCN1
Ensembl hg19 (Hinxton)ENSG00000143341 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000143341 [Gene_View]  chr1:185734551-186190953 [Contig_View]  HMCN1 [Vega]
ICGC DataPortalENSG00000143341
TCGA cBioPortalHMCN1
AceView (NCBI)HMCN1
Genatlas (Paris)HMCN1
WikiGenes83872
SOURCE (Princeton)HMCN1
Genetics Home Reference (NIH)HMCN1
Genomic and cartography
GoldenPath hg38 (UCSC)HMCN1  -     chr1:185734551-186190953 +  1q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HMCN1  -     1q25.3   [Description]    (hg19-Feb_2009)
EnsemblHMCN1 - 1q25.3 [CytoView hg19]  HMCN1 - 1q25.3 [CytoView hg38]
Mapping of homologs : NCBIHMCN1 [Mapview hg19]  HMCN1 [Mapview hg38]
OMIM603075   608548   
Gene and transcription
Genbank (Entrez)AF156100 AJ306906 AK027344 AK056336 AK056557
RefSeq transcript (Entrez)NM_031935
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)HMCN1
Cluster EST : UnigeneHs.58877 [ NCBI ]
CGAP (NCI)Hs.58877
Alternative Splicing GalleryENSG00000143341
Gene ExpressionHMCN1 [ NCBI-GEO ]   HMCN1 [ EBI - ARRAY_EXPRESS ]   HMCN1 [ SEEK ]   HMCN1 [ MEM ]
Gene Expression Viewer (FireBrowse)HMCN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83872
GTEX Portal (Tissue expression)HMCN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96RW7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96RW7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96RW7
Splice isoforms : SwissVarQ96RW7
PhosPhoSitePlusQ96RW7
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    IG_LIKE (PS50835)    NIDOGEN_G2 (PS50993)    TSP1 (PS50092)   
Domains : Interpro (EBI)cEGF    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    G2_nidogen/fibulin_G2F    GFP    GFP-like    Growth_fac_rcpt_    Hemicentin-1/2    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    Ig_V-set    TSP1_rpt    VWF_A   
Domain families : Pfam (Sanger)cEGF (PF12662)    EGF_CA (PF07645)    G2F (PF07474)    I-set (PF07679)    TSP_1 (PF00090)   
Domain families : Pfam (NCBI)pfam12662    pfam07645    pfam07474    pfam07679    pfam00090   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  G2F (SM00682)  IG (SM00409)  IGc2 (SM00408)  IGv (SM00406)  TSP1 (SM00209)  
Conserved Domain (NCBI)HMCN1
DMDM Disease mutations83872
Blocks (Seattle)HMCN1
SuperfamilyQ96RW7
Human Protein AtlasENSG00000143341
Peptide AtlasQ96RW7
HPRD06509
IPIIPI00871227   IPI00657877   IPI00045512   
Protein Interaction databases
DIP (DOE-UCLA)Q96RW7
IntAct (EBI)Q96RW7
FunCoupENSG00000143341
BioGRIDHMCN1
STRING (EMBL)HMCN1
ZODIACHMCN1
Ontologies - Pathways
QuickGOQ96RW7
Ontology : AmiGOcalcium ion binding  basement membrane  cell cortex  cell cycle  visual perception  cell junction  extracellular matrix  cleavage furrow  response to stimulus  cell division  extracellular exosome  
Ontology : EGO-EBIcalcium ion binding  basement membrane  cell cortex  cell cycle  visual perception  cell junction  extracellular matrix  cleavage furrow  response to stimulus  cell division  extracellular exosome  
NDEx NetworkHMCN1
Atlas of Cancer Signalling NetworkHMCN1
Wikipedia pathwaysHMCN1
Orthology - Evolution
OrthoDB83872
GeneTree (enSembl)ENSG00000143341
Phylogenetic Trees/Animal Genes : TreeFamHMCN1
HOVERGENQ96RW7
HOGENOMQ96RW7
Homologs : HomoloGeneHMCN1
Homology/Alignments : Family Browser (UCSC)HMCN1
Gene fusions - Rearrangements
Fusion : MitelmanHMCN1/ETNK1 [1q25.3/12p12.1]  
Fusion : MitelmanHMCN1/RNF2 [1q25.3/1q25.3]  [t(1;1)(q25;q25)]  
Fusion : MitelmanPRKAR2B/HMCN1 [7q22.3/1q25.3]  [t(1;7)(q25;q22)]  
Fusion : MitelmanRGL1/HMCN1 [1q25.3/1q25.3]  [t(1;1)(q25;q25)]  
Fusion : MitelmanTMCC2/HMCN1 [1q32.1/1q25.3]  [t(1;1)(q25;q32)]  
Fusion: TCGAHMCN1 1q25.3 RNF2 1q25.3 BRCA
Fusion: TCGAPRKAR2B 7q22.3 HMCN1 1q25.3 LUSC
Fusion: TCGARGL1 1q25.3 HMCN1 1q25.3 SKCM
Fusion: TCGATMCC2 1q32.1 HMCN1 1q25.3 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHMCN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HMCN1
dbVarHMCN1
ClinVarHMCN1
1000_GenomesHMCN1 
Exome Variant ServerHMCN1
ExAC (Exome Aggregation Consortium)HMCN1 (select the gene name)
Genetic variants : HAPMAP83872
Genomic Variants (DGV)HMCN1 [DGVbeta]
DECIPHERHMCN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHMCN1 
Mutations
ICGC Data PortalHMCN1 
TCGA Data PortalHMCN1 
Broad Tumor PortalHMCN1
OASIS PortalHMCN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHMCN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHMCN1
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 HMCN1
DgiDB (Drug Gene Interaction Database)HMCN1
DoCM (Curated mutations)HMCN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HMCN1 (select a term)
intoGenHMCN1
Cancer3DHMCN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603075    608548   
Orphanet
MedgenHMCN1
Genetic Testing Registry HMCN1
NextProtQ96RW7 [Medical]
TSGene83872
GENETestsHMCN1
Target ValidationHMCN1
Huge Navigator HMCN1 [HugePedia]
snp3D : Map Gene to Disease83872
BioCentury BCIQHMCN1
ClinGenHMCN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD83872
Chemical/Pharm GKB GenePA142671679
Clinical trialHMCN1
Miscellaneous
canSAR (ICR)HMCN1 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHMCN1
EVEXHMCN1
GoPubMedHMCN1
iHOPHMCN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:37:03 CEST 2017

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