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AMPH (amphiphysin)

Identity

Alias_namesamphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)
amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)
Other aliasAMPH1
HGNC (Hugo) AMPH
LocusID (NCBI) 273
Atlas_Id 633
Location 7p14.1  [Link to chromosome band 7p14]
Location_base_pair Starts at 38423297 and ends at 38671167 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AMPH (7p14.1) / SPANXA2-OT1 (Xq27.2)OGDH (7p13) / AMPH (7p14.1)

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 ]
  Lung: Translocations in Squamous Cell Carcinoma


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Stiff-person syndrome


External links

Nomenclature
HGNC (Hugo)AMPH   471
Cards
Entrez_Gene (NCBI)AMPH  273  amphiphysin
AliasesAMPH1
GeneCards (Weizmann)AMPH
Ensembl hg19 (Hinxton)ENSG00000078053 [Gene_View]  chr7:38423297-38671167 [Contig_View]  AMPH [Vega]
Ensembl hg38 (Hinxton)ENSG00000078053 [Gene_View]  chr7:38423297-38671167 [Contig_View]  AMPH [Vega]
ICGC DataPortalENSG00000078053
TCGA cBioPortalAMPH
AceView (NCBI)AMPH
Genatlas (Paris)AMPH
WikiGenes273
SOURCE (Princeton)AMPH
Genetics Home Reference (NIH)AMPH
Genomic and cartography
GoldenPath hg19 (UCSC)AMPH  -     chr7:38423297-38671167 -  7p14.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AMPH  -     7p14.1   [Description]    (hg38-Dec_2013)
EnsemblAMPH - 7p14.1 [CytoView hg19]  AMPH - 7p14.1 [CytoView hg38]
Mapping of homologs : NCBIAMPH [Mapview hg19]  AMPH [Mapview hg38]
OMIM600418   
Gene and transcription
Genbank (Entrez)AF034996 AF498092 AF498093 AF498094 AF498095
RefSeq transcript (Entrez)NM_001635 NM_139316
RefSeq genomic (Entrez)NC_000007 NC_018918 NT_007819 NW_004929329
Consensus coding sequences : CCDS (NCBI)AMPH
Cluster EST : UnigeneHs.592182 [ NCBI ]
CGAP (NCI)Hs.592182
Alternative Splicing GalleryENSG00000078053
Gene ExpressionAMPH [ NCBI-GEO ]   AMPH [ EBI - ARRAY_EXPRESS ]   AMPH [ SEEK ]   AMPH [ MEM ]
Gene Expression Viewer (FireBrowse)AMPH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)273
GTEX Portal (Tissue expression)AMPH
Protein : pattern, domain, 3D structure
UniProt/SwissProtP49418   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP49418  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP49418
Splice isoforms : SwissVarP49418
PhosPhoSitePlusP49418
Domaine pattern : Prosite (Expaxy)BAR (PS51021)    SH3 (PS50002)   
Domains : Interpro (EBI)AH/BAR-dom    Amphiphysin    Amphiphysin_1    BAR_dom    SH3_domain   
Domain families : Pfam (Sanger)BAR (PF03114)   
Domain families : Pfam (NCBI)pfam03114   
Domain families : Smart (EMBL)BAR (SM00721)  SH3 (SM00326)  
Conserved Domain (NCBI)AMPH
DMDM Disease mutations273
Blocks (Seattle)AMPH
PDB (SRS)1KY7    1UTC    3SOG    4ATM   
PDB (PDBSum)1KY7    1UTC    3SOG    4ATM   
PDB (IMB)1KY7    1UTC    3SOG    4ATM   
PDB (RSDB)1KY7    1UTC    3SOG    4ATM   
Structural Biology KnowledgeBase1KY7    1UTC    3SOG    4ATM   
SCOP (Structural Classification of Proteins)1KY7    1UTC    3SOG    4ATM   
CATH (Classification of proteins structures)1KY7    1UTC    3SOG    4ATM   
SuperfamilyP49418
Human Protein AtlasENSG00000078053
Peptide AtlasP49418
HPRD02687
IPIIPI00305486   IPI00386245   IPI00220791   IPI00927690   IPI01011122   IPI01009618   IPI00302962   IPI00386246   
Protein Interaction databases
DIP (DOE-UCLA)P49418
IntAct (EBI)P49418
FunCoupENSG00000078053
BioGRIDAMPH
STRING (EMBL)AMPH
ZODIACAMPH
Ontologies - Pathways
QuickGOP49418
Ontology : AmiGOARF guanyl-nucleotide exchange factor activity  protein binding  phospholipid binding  trans-Golgi network  endocytosis  synaptic transmission  synaptic vesicle  actin cytoskeleton  cell junction  synaptic vesicle membrane  leading edge membrane  positive regulation of GTPase activity  
Ontology : EGO-EBIARF guanyl-nucleotide exchange factor activity  protein binding  phospholipid binding  trans-Golgi network  endocytosis  synaptic transmission  synaptic vesicle  actin cytoskeleton  cell junction  synaptic vesicle membrane  leading edge membrane  positive regulation of GTPase activity  
Pathways : KEGGFc gamma R-mediated phagocytosis   
NDEx NetworkAMPH
Atlas of Cancer Signalling NetworkAMPH
Wikipedia pathwaysAMPH
Orthology - Evolution
OrthoDB273
GeneTree (enSembl)ENSG00000078053
Phylogenetic Trees/Animal Genes : TreeFamAMPH
HOVERGENP49418
HOGENOMP49418
Homologs : HomoloGeneAMPH
Homology/Alignments : Family Browser (UCSC)AMPH
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAMPH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AMPH
dbVarAMPH
ClinVarAMPH
1000_GenomesAMPH 
Exome Variant ServerAMPH
ExAC (Exome Aggregation Consortium)AMPH (select the gene name)
Genetic variants : HAPMAP273
Genomic Variants (DGV)AMPH [DGVbeta]
DECIPHER (Syndromes)7:38423297-38671167  ENSG00000078053
CONAN: Copy Number AnalysisAMPH 
Mutations
ICGC Data PortalAMPH 
TCGA Data PortalAMPH 
Broad Tumor PortalAMPH
OASIS PortalAMPH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAMPH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAMPH
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 AMPH
DgiDB (Drug Gene Interaction Database)AMPH
DoCM (Curated mutations)AMPH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AMPH (select a term)
intoGenAMPH
Cancer3DAMPH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600418   
Orphanet
MedgenAMPH
Genetic Testing Registry AMPH
NextProtP49418 [Medical]
TSGene273
GENETestsAMPH
Huge Navigator AMPH [HugePedia]
snp3D : Map Gene to Disease273
BioCentury BCIQAMPH
ClinGenAMPH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD273
Chemical/Pharm GKB GenePA24779
Clinical trialAMPH
Miscellaneous
canSAR (ICR)AMPH (select the gene name)
Probes
Litterature
PubMed71 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAMPH
EVEXAMPH
GoPubMedAMPH
iHOPAMPH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:55:43 CET 2017

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