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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome

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LARGE (like-glycosyltransferase)

Identity

Other namesMDC1D
MDDGA6
MDDGB6
HGNC (Hugo) LARGE
LocusID (NCBI) 9215
Location 22q12.3
Location_base_pair Starts at 33669062 and ends at 34316416 bp from pter ( according to hg19-Feb_2009)
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)LARGE   6511
Cards
Entrez_Gene (NCBI)LARGE  9215  like-glycosyltransferase
GeneCards (Weizmann)LARGE
Ensembl hg19 (Hinxton)ENSG00000133424 [Gene_View]  chr22:33669062-34316416 [Contig_View]  LARGE [Vega]
Ensembl hg38 (Hinxton)ENSG00000133424 [Gene_View]  chr22:33669062-34316416 [Contig_View]  LARGE [Vega]
ICGC DataPortalENSG00000133424
cBioPortalLARGE
AceView (NCBI)LARGE
Genatlas (Paris)LARGE
WikiGenes9215
SOURCE (Princeton)LARGE
Genomic and cartography
GoldenPath hg19 (UCSC)LARGE  -     chr22:33669062-34316416 -  22q12.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LARGE  -     22q12.3   [Description]    (hg38-Dec_2013)
EnsemblLARGE - 22q12.3 [CytoView hg19]  LARGE - 22q12.3 [CytoView hg38]
Mapping of homologs : NCBILARGE [Mapview hg19]  LARGE [Mapview hg38]
OMIM236670   603590   608840   613154   
Gene and transcription
Genbank (Entrez)AB011181 AI167885 AI198348 AI199197 AJ007583
RefSeq transcript (Entrez)NM_004737 NM_133642
RefSeq genomic (Entrez)AC_000154 NC_000022 NC_018933 NG_009929 NT_011520 NW_001838745 NW_004929430
Consensus coding sequences : CCDS (NCBI)LARGE
Cluster EST : UnigeneHs.474667 [ NCBI ]
CGAP (NCI)Hs.474667
Alternative Splicing : Fast-db (Paris)GSHG0020340
Alternative Splicing GalleryENSG00000133424
Gene ExpressionLARGE [ NCBI-GEO ]     LARGE [ SEEK ]   LARGE [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95461 (Uniprot)
NextProtO95461  [Medical]
With graphics : InterProO95461
Splice isoforms : SwissVarO95461 (Swissvar)
Catalytic activity : Enzyme2.4.-.- [ Enzyme-Expasy ]   2.4.-.-2.4.-.- [ IntEnz-EBI ]   2.4.-.- [ BRENDA ]   2.4.-.- [ KEGG ]   
Domains : Interpro (EBI)Glyco_trans_8    Nucleotide-diphossugar_trans   
Related proteins : CluSTrO95461
Domain families : Pfam (Sanger)Glyco_transf_8 (PF01501)   
Domain families : Pfam (NCBI)pfam01501   
DMDM Disease mutations9215
Blocks (Seattle)O95461
Human Protein AtlasENSG00000133424
Peptide AtlasO95461
HPRD04665
IPIIPI00029050   IPI00607752   IPI00880187   IPI00889585   IPI00878770   IPI00878920   IPI00879087   IPI00879892   IPI00879408   IPI01019051   IPI00916356   IPI00916782   
Protein Interaction databases
DIP (DOE-UCLA)O95461
IntAct (EBI)O95461
FunCoupENSG00000133424
BioGRIDLARGE
IntegromeDBLARGE
STRING (EMBL)LARGE
Ontologies - Pathways
QuickGOO95461
Ontology : AmiGON-acetylglucosamine metabolic process  protein glycosylation  glycosphingolipid biosynthetic process  acetylglucosaminyltransferase activity  glycoprotein biosynthetic process  transferase activity, transferring glycosyl groups  integral component of Golgi membrane  muscle cell cellular homeostasis  
Ontology : EGO-EBIN-acetylglucosamine metabolic process  protein glycosylation  glycosphingolipid biosynthetic process  acetylglucosaminyltransferase activity  glycoprotein biosynthetic process  transferase activity, transferring glycosyl groups  integral component of Golgi membrane  muscle cell cellular homeostasis  
Protein Interaction DatabaseLARGE
DoCM (Curated mutations)LARGE
Wikipedia pathwaysLARGE
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerLARGE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LARGE
dbVarLARGE
ClinVarLARGE
1000_GenomesLARGE 
Exome Variant ServerLARGE
SNP (GeneSNP Utah)LARGE
SNP : HGBaseLARGE
Genetic variants : HAPMAPLARGE
Genomic Variants (DGV)LARGE [DGVbeta]
Mutations
ICGC Data PortalENSG00000133424 
Somatic Mutations in Cancer : COSMICLARGE 
CONAN: Copy Number AnalysisLARGE 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)22:33669062-34316416
Mutations and Diseases : HGMDLARGE
OMIM236670    603590    608840    613154   
MedgenLARGE
NextProtO95461 [Medical]
GENETestsLARGE
Disease Genetic AssociationLARGE
Huge Navigator LARGE [HugePedia]  LARGE [HugeCancerGEM]
snp3D : Map Gene to Disease9215
DGIdb (Drug Gene Interaction db)LARGE
General knowledge
Homologs : HomoloGeneLARGE
Homology/Alignments : Family Browser (UCSC)LARGE
Phylogenetic Trees/Animal Genes : TreeFamLARGE
Chemical/Protein Interactions : CTD9215
Chemical/Pharm GKB GenePA30296
Clinical trialLARGE
Cancer Resource (Charite)ENSG00000133424
Other databases
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
CoreMineLARGE
GoPubMedLARGE
iHOPLARGE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 14 16:32:57 CET 2015

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jlhuret@AtlasGeneticsOncology.org.