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MAMLD1 (mastermind like domain containing 1)

Identity

Alias (NCBI)CG1
CXorf6
F18
HYSP2
HGNC (Hugo) MAMLD1
HGNC Alias symbCG1
F18
HGNC Previous nameCXorf6
HGNC Previous namechromosome X open reading frame 6
LocusID (NCBI) 10046
Atlas_Id 68774
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 150445454 and ends at 150514178 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)
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    mastermind like domain containing 1
AliasesCG1; CXorf6; F18; HYSP2
GeneCards (Weizmann)MAMLD1
Ensembl hg19 (Hinxton)ENSG00000013619 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000013619 [Gene_View]  ENSG00000013619 [Sequence]  chrX:150445454-150514178 [Contig_View]  MAMLD1 [Vega]
ICGC DataPortalENSG00000013619
TCGA cBioPortalMAMLD1
AceView (NCBI)MAMLD1
Genatlas (Paris)MAMLD1
SOURCE (Princeton)MAMLD1
Genetics Home Reference (NIH)MAMLD1
Genomic and cartography
GoldenPath hg38 (UCSC)MAMLD1  -     chrX:150445454-150514178 +  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAMLD1  -     Xq28   [Description]    (hg19-Feb_2009)
GoldenPathMAMLD1 - Xq28 [CytoView hg19]  MAMLD1 - Xq28 [CytoView hg38]
ImmunoBaseENSG00000013619
Genome Data Viewer NCBIMAMLD1 [Mapview hg19]  
OMIM300120   300758   
Gene and transcription
Genbank (Entrez)AK094563 AK125184 AK294478 AK297504 AK302612
RefSeq transcript (Entrez)NM_001177465 NM_001177466 NM_005491
Consensus coding sequences : CCDS (NCBI)MAMLD1
Gene ExpressionMAMLD1 [ NCBI-GEO ]   MAMLD1 [ EBI - ARRAY_EXPRESS ]   MAMLD1 [ SEEK ]   MAMLD1 [ MEM ]
Gene Expression Viewer (FireBrowse)MAMLD1 [ Firebrowse - Broad ]
GenevisibleExpression of MAMLD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10046
GTEX Portal (Tissue expression)MAMLD1
Human Protein AtlasENSG00000013619-MAMLD1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ13495
Domains : Interpro (EBI)MAMLD1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)MAMLD1
SuperfamilyQ13495
AlphaFold pdb e-kbQ13495   
Human Protein Atlas [tissue]ENSG00000013619-MAMLD1 [tissue]
HPRD02126
Protein Interaction databases
DIP (DOE-UCLA)Q13495
IntAct (EBI)Q13495
BioGRIDMAMLD1
STRING (EMBL)MAMLD1
ZODIACMAMLD1
Ontologies - Pathways
QuickGOQ13495
Ontology : AmiGOmolecular_function  nucleoplasm  Golgi apparatus  centrosome  regulation of transcription by RNA polymerase II  male gonad development  nuclear body  nuclear body  
Ontology : EGO-EBImolecular_function  nucleoplasm  Golgi apparatus  centrosome  regulation of transcription by RNA polymerase II  male gonad development  nuclear body  nuclear body  
NDEx NetworkMAMLD1
Atlas of Cancer Signalling NetworkMAMLD1
Wikipedia pathwaysMAMLD1
Orthology - Evolution
OrthoDB10046
GeneTree (enSembl)ENSG00000013619
Phylogenetic Trees/Animal Genes : TreeFamMAMLD1
Homologs : HomoloGeneMAMLD1
Homology/Alignments : Family Browser (UCSC)MAMLD1
Gene fusions - Rearrangements
Fusion : QuiverMAMLD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAMLD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAMLD1
dbVarMAMLD1
ClinVarMAMLD1
MonarchMAMLD1
1000_GenomesMAMLD1 
Exome Variant ServerMAMLD1
GNOMAD BrowserENSG00000013619
Varsome BrowserMAMLD1
ACMGMAMLD1 variants
VarityQ13495
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]  
Somatic Mutations in Cancer : COSMIC3DMAMLD1
Mutations and Diseases : HGMDMAMLD1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMAMLD1
DgiDB (Drug Gene Interaction Database)MAMLD1
DoCM (Curated mutations)MAMLD1
CIViC (Clinical Interpretations of Variants in Cancer)MAMLD1
Cancer3DMAMLD1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300120    300758   
Orphanet3299    23678   
DisGeNETMAMLD1
MedgenMAMLD1
Genetic Testing Registry MAMLD1
NextProtQ13495 [Medical]
GENETestsMAMLD1
Target ValidationMAMLD1
Huge Navigator MAMLD1 [HugePedia]
ClinGenMAMLD1
Clinical trials, drugs, therapy
MyCancerGenomeMAMLD1
Protein Interactions : CTDMAMLD1
Pharm GKB GenePA162394950
PharosQ13495
Clinical trialMAMLD1
Miscellaneous
canSAR (ICR)MAMLD1
HarmonizomeMAMLD1
DataMed IndexMAMLD1
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMAMLD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:06:47 CEST 2021

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