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MAMLD1 (mastermind like domain containing 1)

Identity

Alias_namesCXorf6
chromosome X open reading frame 6
Alias_symbol (synonym)CG1
F18
Other aliasHYSP2
HGNC (Hugo) MAMLD1
LocusID (NCBI) 10046
Atlas_Id 68774
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 150363278 and ends at 150514178 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HUNK (21q22.11) / MAMLD1 (Xq28)MAMLD1 (Xq28) / MAMLD1 (Xq28)RALGDS (9q34.2) / MAMLD1 (Xq28)
TNFRSF21 (6p12.3) / MAMLD1 (Xq28)

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)MAMLD1   2568
Cards
Entrez_Gene (NCBI)MAMLD1  10046  mastermind like domain containing 1
AliasesCG1; CXorf6; F18; HYSP2
GeneCards (Weizmann)MAMLD1
Ensembl hg19 (Hinxton)ENSG00000013619 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000013619 [Gene_View]  chrX:150363278-150514178 [Contig_View]  MAMLD1 [Vega]
ICGC DataPortalENSG00000013619
TCGA cBioPortalMAMLD1
AceView (NCBI)MAMLD1
Genatlas (Paris)MAMLD1
WikiGenes10046
SOURCE (Princeton)MAMLD1
Genetics Home Reference (NIH)MAMLD1
Genomic and cartography
GoldenPath hg38 (UCSC)MAMLD1  -     chrX:150363278-150514178 +  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAMLD1  -     Xq28   [Description]    (hg19-Feb_2009)
EnsemblMAMLD1 - Xq28 [CytoView hg19]  MAMLD1 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIMAMLD1 [Mapview hg19]  MAMLD1 [Mapview hg38]
OMIM300120   300758   
Gene and transcription
Genbank (Entrez)AK094563 AK125184 AK294478 AK297504 AK302612
RefSeq transcript (Entrez)NM_001177465 NM_001177466 NM_005491
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAMLD1
Cluster EST : UnigeneHs.20136 [ NCBI ]
CGAP (NCI)Hs.20136
Alternative Splicing GalleryENSG00000013619
Gene ExpressionMAMLD1 [ NCBI-GEO ]   MAMLD1 [ EBI - ARRAY_EXPRESS ]   MAMLD1 [ SEEK ]   MAMLD1 [ MEM ]
Gene Expression Viewer (FireBrowse)MAMLD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10046
GTEX Portal (Tissue expression)MAMLD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13495   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13495  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13495
Splice isoforms : SwissVarQ13495
PhosPhoSitePlusQ13495
Domains : Interpro (EBI)MAMLD1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)MAMLD1
DMDM Disease mutations10046
Blocks (Seattle)MAMLD1
SuperfamilyQ13495
Human Protein AtlasENSG00000013619
Peptide AtlasQ13495
HPRD02126
IPIIPI00013425   IPI00446025   IPI00936966   IPI00910498   IPI00910877   IPI00852772   
Protein Interaction databases
DIP (DOE-UCLA)Q13495
IntAct (EBI)Q13495
FunCoupENSG00000013619
BioGRIDMAMLD1
STRING (EMBL)MAMLD1
ZODIACMAMLD1
Ontologies - Pathways
QuickGOQ13495
Ontology : AmiGOmolecular_function  cellular_component  nucleoplasm  Golgi apparatus  centrosome  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  male gonad development  nuclear body  
Ontology : EGO-EBImolecular_function  cellular_component  nucleoplasm  Golgi apparatus  centrosome  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  male gonad development  nuclear body  
NDEx NetworkMAMLD1
Atlas of Cancer Signalling NetworkMAMLD1
Wikipedia pathwaysMAMLD1
Orthology - Evolution
OrthoDB10046
GeneTree (enSembl)ENSG00000013619
Phylogenetic Trees/Animal Genes : TreeFamMAMLD1
HOVERGENQ13495
HOGENOMQ13495
Homologs : HomoloGeneMAMLD1
Homology/Alignments : Family Browser (UCSC)MAMLD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAMLD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAMLD1
dbVarMAMLD1
ClinVarMAMLD1
1000_GenomesMAMLD1 
Exome Variant ServerMAMLD1
ExAC (Exome Aggregation Consortium)MAMLD1 (select the gene name)
Genetic variants : HAPMAP10046
Genomic Variants (DGV)MAMLD1 [DGVbeta]
DECIPHERMAMLD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAMLD1 
Mutations
ICGC Data PortalMAMLD1 
TCGA Data PortalMAMLD1 
Broad Tumor PortalMAMLD1
OASIS PortalMAMLD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAMLD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAMLD1
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
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch MAMLD1
DgiDB (Drug Gene Interaction Database)MAMLD1
DoCM (Curated mutations)MAMLD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAMLD1 (select a term)
intoGenMAMLD1
Cancer3DMAMLD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300120    300758   
Orphanet3299    23678   
MedgenMAMLD1
Genetic Testing Registry MAMLD1
NextProtQ13495 [Medical]
TSGene10046
GENETestsMAMLD1
Target ValidationMAMLD1
Huge Navigator MAMLD1 [HugePedia]
snp3D : Map Gene to Disease10046
BioCentury BCIQMAMLD1
ClinGenMAMLD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10046
Chemical/Pharm GKB GenePA162394950
Clinical trialMAMLD1
Miscellaneous
canSAR (ICR)MAMLD1 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAMLD1
EVEXMAMLD1
GoPubMedMAMLD1
iHOPMAMLD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:26:52 CEST 2017

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