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AMMECR1 (Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1)

Identity

Other aliasAMMERC1
MFHIEN
HGNC (Hugo) AMMECR1
LocusID (NCBI) 9949
Atlas_Id 46672
Location Xq23  [Link to chromosome band Xq23]
Location_base_pair Starts at 110194186 and ends at 110318152 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)
AMMECR1 (Xq23) / CISH (3p21.2)AMMECR1 (Xq23) / ELL3 (15q15.3)AMMECR1 (Xq23) / PLA2G12B (10q22.1)
VPS13C (15q22.2) / AMMECR1 (Xq23)AMMECR1 Xq23 / PLA2G12B 10q22.1

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 ]
  t(X;10)(q23;q22) AMMECR1/PLA2G12B

External links

Nomenclature
HGNC (Hugo)AMMECR1   467
Cards
Entrez_Gene (NCBI)AMMECR1  9949  Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
AliasesAMMERC1; MFHIEN
GeneCards (Weizmann)AMMECR1
Ensembl hg19 (Hinxton)ENSG00000101935 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101935 [Gene_View]  chrX:110194186-110318152 [Contig_View]  AMMECR1 [Vega]
ICGC DataPortalENSG00000101935
TCGA cBioPortalAMMECR1
AceView (NCBI)AMMECR1
Genatlas (Paris)AMMECR1
WikiGenes9949
SOURCE (Princeton)AMMECR1
Genetics Home Reference (NIH)AMMECR1
Genomic and cartography
GoldenPath hg38 (UCSC)AMMECR1  -     chrX:110194186-110318152 -  Xq23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AMMECR1  -     Xq23   [Description]    (hg19-Feb_2009)
EnsemblAMMECR1 - Xq23 [CytoView hg19]  AMMECR1 - Xq23 [CytoView hg38]
Mapping of homologs : NCBIAMMECR1 [Mapview hg19]  AMMECR1 [Mapview hg38]
OMIM300195   300990   
Gene and transcription
Genbank (Entrez)AJ007014 AK001703 AK023637 AK055321 AK091430
RefSeq transcript (Entrez)NM_001025580 NM_001171689 NM_015365
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AMMECR1
Cluster EST : UnigeneHs.656243 [ NCBI ]
CGAP (NCI)Hs.656243
Alternative Splicing GalleryENSG00000101935
Gene ExpressionAMMECR1 [ NCBI-GEO ]   AMMECR1 [ EBI - ARRAY_EXPRESS ]   AMMECR1 [ SEEK ]   AMMECR1 [ MEM ]
Gene Expression Viewer (FireBrowse)AMMECR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9949
GTEX Portal (Tissue expression)AMMECR1
Human Protein AtlasENSG00000101935-AMMECR1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y4X0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y4X0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y4X0
Splice isoforms : SwissVarQ9Y4X0
PhosPhoSitePlusQ9Y4X0
Domaine pattern : Prosite (Expaxy)AMMECR1 (PS51112)   
Domains : Interpro (EBI)AMMECR1    AMMECR1_domain    AMMECR1_N   
Domain families : Pfam (Sanger)AMMECR1 (PF01871)   
Domain families : Pfam (NCBI)pfam01871   
Conserved Domain (NCBI)AMMECR1
DMDM Disease mutations9949
Blocks (Seattle)AMMECR1
SuperfamilyQ9Y4X0
Human Protein Atlas [tissue]ENSG00000101935-AMMECR1 [tissue]
Peptide AtlasQ9Y4X0
HPRD02182
IPIIPI00022258   IPI00375048   IPI00719771   IPI00646629   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y4X0
IntAct (EBI)Q9Y4X0
FunCoupENSG00000101935
BioGRIDAMMECR1
STRING (EMBL)AMMECR1
ZODIACAMMECR1
Ontologies - Pathways
QuickGOQ9Y4X0
Ontology : AmiGOprotein binding  nucleus  biological_process  
Ontology : EGO-EBIprotein binding  nucleus  biological_process  
NDEx NetworkAMMECR1
Atlas of Cancer Signalling NetworkAMMECR1
Wikipedia pathwaysAMMECR1
Orthology - Evolution
OrthoDB9949
GeneTree (enSembl)ENSG00000101935
Phylogenetic Trees/Animal Genes : TreeFamAMMECR1
HOVERGENQ9Y4X0
HOGENOMQ9Y4X0
Homologs : HomoloGeneAMMECR1
Homology/Alignments : Family Browser (UCSC)AMMECR1
Gene fusions - Rearrangements
Fusion : MitelmanAMMECR1/PLA2G12B [Xq23/10q22.1]  
Fusion: TCGA_MDACCAMMECR1 Xq23 PLA2G12B 10q22.1 LUAD
Fusion PortalAMMECR1 Xq23 PLA2G12B 10q22.1 LUAD
Fusion : QuiverAMMECR1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAMMECR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AMMECR1
dbVarAMMECR1
ClinVarAMMECR1
1000_GenomesAMMECR1 
Exome Variant ServerAMMECR1
ExAC (Exome Aggregation Consortium)ENSG00000101935
GNOMAD BrowserENSG00000101935
Genetic variants : HAPMAP9949
Genomic Variants (DGV)AMMECR1 [DGVbeta]
DECIPHERAMMECR1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAMMECR1 
Mutations
ICGC Data PortalAMMECR1 
TCGA Data PortalAMMECR1 
Broad Tumor PortalAMMECR1
OASIS PortalAMMECR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAMMECR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAMMECR1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch AMMECR1
DgiDB (Drug Gene Interaction Database)AMMECR1
DoCM (Curated mutations)AMMECR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AMMECR1 (select a term)
intoGenAMMECR1
Cancer3DAMMECR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300195    300990   
Orphanet11738   
DisGeNETAMMECR1
MedgenAMMECR1
Genetic Testing Registry AMMECR1
NextProtQ9Y4X0 [Medical]
TSGene9949
GENETestsAMMECR1
Target ValidationAMMECR1
Huge Navigator AMMECR1 [HugePedia]
snp3D : Map Gene to Disease9949
BioCentury BCIQAMMECR1
ClinGenAMMECR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9949
Chemical/Pharm GKB GenePA24772
Clinical trialAMMECR1
Miscellaneous
canSAR (ICR)AMMECR1 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAMMECR1
EVEXAMMECR1
GoPubMedAMMECR1
iHOPAMMECR1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Feb 28 13:00:49 CET 2018
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