Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   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
Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret jlhuret@AtlasGeneticsOncology.org
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
Note: we send fiscal receipts for donations equal or above 50 Euros or Dollars

Donate (in Euros)

Donate (in US Dollars)


PAFAH1B1 (platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa))

Identity

Other namesLIS1
LIS2
MDCR
MDS
PAFAH
HGNC (Hugo) PAFAH1B1
LocusID (NCBI) 5048
Location 17p13.3
Location_base_pair Starts at 2496923 and ends at 2588909 bp from pter ( according to hg19-Feb_2009)
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

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615

External links

Nomenclature
HGNC (Hugo)PAFAH1B1   8574
Cards
Entrez_Gene (NCBI)PAFAH1B1  5048  platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
GeneCards (Weizmann)PAFAH1B1
Ensembl hg19 (Hinxton)ENSG00000007168 [Gene_View]  chr17:2496923-2588909 [Contig_View]  PAFAH1B1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000007168 [Gene_View]  chr17:2496923-2588909 [Contig_View]  PAFAH1B1 [Vega]
ICGC DataPortalENSG00000007168
cBioPortalPAFAH1B1
AceView (NCBI)PAFAH1B1
Genatlas (Paris)PAFAH1B1
WikiGenes5048
SOURCE (Princeton)PAFAH1B1
Genomic and cartography
GoldenPath hg19 (UCSC)PAFAH1B1  -     chr17:2496923-2588909 +  17p13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PAFAH1B1  -     17p13.3   [Description]    (hg38-Dec_2013)
EnsemblPAFAH1B1 - 17p13.3 [CytoView hg19]  PAFAH1B1 - 17p13.3 [CytoView hg38]
Mapping of homologs : NCBIPAFAH1B1 [Mapview hg19]  PAFAH1B1 [Mapview hg38]
OMIM601545   607432   
Gene and transcription
Genbank (Entrez)AF208835 AF208836 AF208837 AF208838 AF400434
RefSeq transcript (Entrez)NM_000430
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_009799 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)PAFAH1B1
Cluster EST : UnigeneHs.77318 [ NCBI ]
CGAP (NCI)Hs.77318
Alternative Splicing : Fast-db (Paris)GSHG0012123
Alternative Splicing GalleryENSG00000007168
Gene ExpressionPAFAH1B1 [ NCBI-GEO ]     PAFAH1B1 [ SEEK ]   PAFAH1B1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP43034 (Uniprot)
NextProtP43034  [Medical]
With graphics : InterProP43034
Splice isoforms : SwissVarP43034 (Swissvar)
Domaine pattern : Prosite (Expaxy)LISH (PS50896)    WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)Dynein_regulator_LIS1    G-protein_beta_WD-40_rep    LisH_dimerisation    LisH_dimerisation_subgr    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Related proteins : CluSTrP43034
Domain families : Pfam (Sanger)LisH (PF08513)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam08513    pfam00400   
Domain families : Smart (EMBL)LisH (SM00667)  WD40 (SM00320)  
DMDM Disease mutations5048
Blocks (Seattle)P43034
Human Protein AtlasENSG00000007168
Peptide AtlasP43034
HPRD03329
IPIIPI00218728   IPI00760905   IPI00909586   IPI00873228   IPI00953036   
Protein Interaction databases
DIP (DOE-UCLA)P43034
IntAct (EBI)P43034
FunCoupENSG00000007168
BioGRIDPAFAH1B1
IntegromeDBPAFAH1B1
STRING (EMBL)PAFAH1B1
Ontologies - Pathways
QuickGOP43034
Ontology : AmiGOG2/M transition of mitotic cell cycle  establishment of mitotic spindle orientation  microtubule cytoskeleton organization  astral microtubule  mitotic cell cycle  kinetochore  ameboidal-type cell migration  acrosome assembly  neuron migration  neuron migration  positive regulation of cytokine-mediated signaling pathway  protein binding  nuclear envelope  centrosome  centrosome  cytosol  cytosol  kinesin complex  microtubule associated complex  cell cortex  organelle organization  microtubule-based process  mitotic nuclear division  nuclear migration  synaptic transmission  neuroblast proliferation  learning or memory  microtubule binding  retrograde axon cargo transport  heparin binding  adult locomotory behavior  protein secretion  negative regulation of neuron projection development  lipid catabolic process  stem cell division  transmission of nerve impulse  corpus callosum morphogenesis  hippocampus development  layer formation in cerebral cortex  cerebral cortex neuron differentiation  cerebral cortex development  actin cytoskeleton organization  axon  growth cone  microtubule organizing center organization  cell leading edge  motile primary cilium  nuclear membrane  dynactin binding  osteoclast development  protein homodimerization activity  neuronal cell body  phospholipase binding  dynein binding  dynein intermediate chain binding  positive regulation of axon extension  positive regulation of mitotic cell cycle  negative regulation of JNK cascade  platelet activating factor metabolic process  vesicle transport along microtubule  perinuclear region of cytoplasm  brain morphogenesis  neuromuscular process controlling balance  nuclear envelope disassembly  phosphoprotein binding  establishment of centrosome localization  extracellular exosome  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  establishment of mitotic spindle orientation  microtubule cytoskeleton organization  astral microtubule  mitotic cell cycle  kinetochore  ameboidal-type cell migration  acrosome assembly  neuron migration  neuron migration  positive regulation of cytokine-mediated signaling pathway  protein binding  nuclear envelope  centrosome  centrosome  cytosol  cytosol  kinesin complex  microtubule associated complex  cell cortex  organelle organization  microtubule-based process  mitotic nuclear division  nuclear migration  synaptic transmission  neuroblast proliferation  learning or memory  microtubule binding  retrograde axon cargo transport  heparin binding  adult locomotory behavior  protein secretion  negative regulation of neuron projection development  lipid catabolic process  stem cell division  transmission of nerve impulse  corpus callosum morphogenesis  hippocampus development  layer formation in cerebral cortex  cerebral cortex neuron differentiation  cerebral cortex development  actin cytoskeleton organization  axon  growth cone  microtubule organizing center organization  cell leading edge  motile primary cilium  nuclear membrane  dynactin binding  osteoclast development  protein homodimerization activity  neuronal cell body  phospholipase binding  dynein binding  dynein intermediate chain binding  positive regulation of axon extension  positive regulation of mitotic cell cycle  negative regulation of JNK cascade  platelet activating factor metabolic process  vesicle transport along microtubule  perinuclear region of cytoplasm  brain morphogenesis  neuromuscular process controlling balance  nuclear envelope disassembly  phosphoprotein binding  establishment of centrosome localization  extracellular exosome  
Pathways : BIOCARTALissencephaly gene (LIS1) in neuronal migration and development [Genes]   
Pathways : KEGGEther lipid metabolism   
Protein Interaction DatabasePAFAH1B1
DoCM (Curated mutations)PAFAH1B1
Wikipedia pathwaysPAFAH1B1
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPAFAH1B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAFAH1B1
dbVarPAFAH1B1
ClinVarPAFAH1B1
1000_GenomesPAFAH1B1 
Exome Variant ServerPAFAH1B1
SNP (GeneSNP Utah)PAFAH1B1
SNP : HGBasePAFAH1B1
Genetic variants : HAPMAPPAFAH1B1
Genomic Variants (DGV)PAFAH1B1 [DGVbeta]
Mutations
ICGC Data PortalENSG00000007168 
Somatic Mutations in Cancer : COSMICPAFAH1B1 
CONAN: Copy Number AnalysisPAFAH1B1 
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:2496923-2588909
Mutations and Diseases : HGMDPAFAH1B1
OMIM601545    607432   
MedgenPAFAH1B1
NextProtP43034 [Medical]
GENETestsPAFAH1B1
Disease Genetic AssociationPAFAH1B1
Huge Navigator PAFAH1B1 [HugePedia]  PAFAH1B1 [HugeCancerGEM]
snp3D : Map Gene to Disease5048
DGIdb (Drug Gene Interaction db)PAFAH1B1
General knowledge
Homologs : HomoloGenePAFAH1B1
Homology/Alignments : Family Browser (UCSC)PAFAH1B1
Phylogenetic Trees/Animal Genes : TreeFamPAFAH1B1
Chemical/Protein Interactions : CTD5048
Chemical/Pharm GKB GenePA32905
Clinical trialPAFAH1B1
Cancer Resource (Charite)ENSG00000007168
Other databases
Probes
Litterature
PubMed131 Pubmed reference(s) in Entrez
CoreMinePAFAH1B1
GoPubMedPAFAH1B1
iHOPPAFAH1B1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Mar 28 16:50:25 CET 2015

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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.