Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

AMPH (amphiphysin)

Identity

Alias (NCBI)AMPH1
HGNC (Hugo) AMPH
HGNC Previous nameamphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)
 amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)
LocusID (NCBI) 273
Atlas_Id 633
Location 7p14.1  [Link to chromosome band 7p14]
Location_base_pair Starts at 38383696 and ends at 38631567 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)
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 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    amphiphysin
AliasesAMPH1
GeneCards (Weizmann)AMPH
Ensembl hg19 (Hinxton)ENSG00000078053 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000078053 [Gene_View]  ENSG00000078053 [Sequence]  chr7:38383696-38631567 [Contig_View]  AMPH [Vega]
ICGC DataPortalENSG00000078053
TCGA cBioPortalAMPH
AceView (NCBI)AMPH
Genatlas (Paris)AMPH
SOURCE (Princeton)AMPH
Genetics Home Reference (NIH)AMPH
Genomic and cartography
GoldenPath hg38 (UCSC)AMPH  -     chr7:38383696-38631567 -  7p14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AMPH  -     7p14.1   [Description]    (hg19-Feb_2009)
GoldenPathAMPH - 7p14.1 [CytoView hg19]  AMPH - 7p14.1 [CytoView hg38]
ImmunoBaseENSG00000078053
Genome Data Viewer NCBIAMPH [Mapview hg19]  
OMIM600418   
Gene and transcription
Genbank (Entrez)AF034996 AF498092 AF498093 AF498094 AF498095
RefSeq transcript (Entrez)NM_001635 NM_139316
Consensus coding sequences : CCDS (NCBI)AMPH
Gene ExpressionAMPH [ NCBI-GEO ]   AMPH [ EBI - ARRAY_EXPRESS ]   AMPH [ SEEK ]   AMPH [ MEM ]
Gene Expression Viewer (FireBrowse)AMPH [ Firebrowse - Broad ]
GenevisibleExpression of AMPH in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)273
GTEX Portal (Tissue expression)AMPH
Human Protein AtlasENSG00000078053-AMPH [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusP49418
Domaine pattern : Prosite (Expaxy)BAR (PS51021)    SH3 (PS50002)   
Domains : Interpro (EBI)AH/BAR_dom_sf    Amphiphysin    Amphiphysin_1    Amphiphysin_I_SH3    BAR_dom    SH3-like_dom_sf    SH3_domain   
Domain families : Pfam (Sanger)BAR (PF03114)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam03114    pfam14604   
Domain families : Smart (EMBL)BAR (SM00721)  SH3 (SM00326)  
Conserved Domain (NCBI)AMPH
PDB (RSDB)1KY7    1UTC    3SOG    4ATM    5M5S    5M61   
PDB Europe1KY7    1UTC    3SOG    4ATM    5M5S    5M61   
PDB (PDBSum)1KY7    1UTC    3SOG    4ATM    5M5S    5M61   
PDB (IMB)1KY7    1UTC    3SOG    4ATM    5M5S    5M61   
Structural Biology KnowledgeBase1KY7    1UTC    3SOG    4ATM    5M5S    5M61   
SCOP (Structural Classification of Proteins)1KY7    1UTC    3SOG    4ATM    5M5S    5M61   
CATH (Classification of proteins structures)1KY7    1UTC    3SOG    4ATM    5M5S    5M61   
SuperfamilyP49418
AlphaFold pdb e-kbP49418   
Human Protein Atlas [tissue]ENSG00000078053-AMPH [tissue]
HPRD02687
Protein Interaction databases
DIP (DOE-UCLA)P49418
IntAct (EBI)P49418
BioGRIDAMPH
STRING (EMBL)AMPH
ZODIACAMPH
Ontologies - Pathways
QuickGOP49418
Ontology : AmiGOprotein binding  phospholipid binding  phospholipid binding  cytosol  plasma membrane  endocytosis  chemical synaptic transmission  synaptic vesicle  actin cytoskeleton  synaptic vesicle membrane  leading edge membrane  synaptic vesicle endocytosis  
Ontology : EGO-EBIprotein binding  phospholipid binding  phospholipid binding  cytosol  plasma membrane  endocytosis  chemical synaptic transmission  synaptic vesicle  actin cytoskeleton  synaptic vesicle membrane  leading edge membrane  synaptic vesicle endocytosis  
Pathways : KEGGKEGG_FC_GAMMA_R_MEDIATED_PHAGOCYTOSIS   
NDEx NetworkAMPH
Atlas of Cancer Signalling NetworkAMPH
Wikipedia pathwaysAMPH
Orthology - Evolution
OrthoDB273
GeneTree (enSembl)ENSG00000078053
Phylogenetic Trees/Animal Genes : TreeFamAMPH
Homologs : HomoloGeneAMPH
Homology/Alignments : Family Browser (UCSC)AMPH
Gene fusions - Rearrangements
Fusion : QuiverAMPH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAMPH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AMPH
dbVarAMPH
ClinVarAMPH
MonarchAMPH
1000_GenomesAMPH 
Exome Variant ServerAMPH
GNOMAD BrowserENSG00000078053
Varsome BrowserAMPH
ACMGAMPH variants
VarityP49418
Genomic Variants (DGV)AMPH [DGVbeta]
DECIPHERAMPH [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DAMPH
Mutations and Diseases : HGMDAMPH
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAMPH
DgiDB (Drug Gene Interaction Database)AMPH
DoCM (Curated mutations)AMPH
CIViC (Clinical Interpretations of Variants in Cancer)AMPH
Cancer3DAMPH
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600418   
Orphanet
DisGeNETAMPH
MedgenAMPH
Genetic Testing Registry AMPH
NextProtP49418 [Medical]
GENETestsAMPH
Target ValidationAMPH
Huge Navigator AMPH [HugePedia]
ClinGenAMPH
Clinical trials, drugs, therapy
MyCancerGenomeAMPH
Protein Interactions : CTDAMPH
Pharm GKB GenePA24779
PharosP49418
Clinical trialAMPH
Miscellaneous
canSAR (ICR)AMPH
HarmonizomeAMPH
ARCHS4AMPH
DataMed IndexAMPH
Probes
Litterature
PubMed83 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAMPH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Jan 20 12:22:19 CET 2022

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.