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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economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas).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

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SPG7 (spastic paraplegia 7 (pure and complicated autosomal recessive))

Identity

Other namesCAR
CMAR
PGN
SPG5C
HGNC (Hugo) SPG7
LocusID (NCBI) 6687
Location 16q24.3
Location_base_pair Starts at 89574796 and ends at 89624176 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

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)SPG7   11237
Cards
Entrez_Gene (NCBI)SPG7  6687  spastic paraplegia 7 (pure and complicated autosomal recessive)
GeneCards (Weizmann)SPG7
Ensembl hg19 (Hinxton)ENSG00000197912 [Gene_View]  chr16:89574796-89624176 [Contig_View]  SPG7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000197912 [Gene_View]  chr16:89574796-89624176 [Contig_View]  SPG7 [Vega]
ICGC DataPortalENSG00000197912
cBioPortalSPG7
AceView (NCBI)SPG7
Genatlas (Paris)SPG7
WikiGenes6687
SOURCE (Princeton)SPG7
Genomic and cartography
GoldenPath hg19 (UCSC)SPG7  -     chr16:89574796-89624176 +  16q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPG7  -     16q24.3   [Description]    (hg38-Dec_2013)
EnsemblSPG7 - 16q24.3 [CytoView hg19]  SPG7 - 16q24.3 [CytoView hg38]
Mapping of homologs : NCBISPG7 [Mapview hg19]  SPG7 [Mapview hg38]
OMIM602783   607259   
Gene and transcription
Genbank (Entrez)AF034795 AF090912 AK094627 AW250773 BC007692
RefSeq transcript (Entrez)NM_003119 NM_199367
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_008082 NT_010498 NW_004929403
Consensus coding sequences : CCDS (NCBI)SPG7
Cluster EST : UnigeneHs.185597 [ NCBI ]
CGAP (NCI)Hs.185597
Alternative Splicing : Fast-db (Paris)GSHG0011466
Alternative Splicing GalleryENSG00000197912
Gene ExpressionSPG7 [ NCBI-GEO ]     SPG7 [ SEEK ]   SPG7 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UQ90 (Uniprot)
NextProtQ9UQ90  [Medical]
With graphics : InterProQ9UQ90
Splice isoforms : SwissVarQ9UQ90 (Swissvar)
Catalytic activity : Enzyme3.4.24.- [ Enzyme-Expasy ]   3.4.24.-3.4.24.- [ IntEnz-EBI ]   3.4.24.- [ BRENDA ]   3.4.24.- [ KEGG ]   
Domains : Interpro (EBI)AAA+_ATPase    ATPase_AAA_core    FtsH    P-loop_NTPase    Pept_M41_FtsH_extracell    Peptidase_M41   
Related proteins : CluSTrQ9UQ90
Domain families : Pfam (Sanger)AAA (PF00004)    FtsH_ext (PF06480)    Peptidase_M41 (PF01434)   
Domain families : Pfam (NCBI)pfam00004    pfam06480    pfam01434   
Domain families : Smart (EMBL)AAA (SM00382)  
DMDM Disease mutations6687
Blocks (Seattle)Q9UQ90
PDB (SRS)2QZ4   
PDB (PDBSum)2QZ4   
PDB (IMB)2QZ4   
PDB (RSDB)2QZ4   
Human Protein AtlasENSG00000197912
Peptide AtlasQ9UQ90
HPRD04149
IPIIPI00299010   IPI00398508   IPI00982992   IPI00012864   IPI00006076   
Protein Interaction databases
DIP (DOE-UCLA)Q9UQ90
IntAct (EBI)Q9UQ90
FunCoupENSG00000197912
BioGRIDSPG7
IntegromeDBSPG7
STRING (EMBL)SPG7
Ontologies - Pathways
QuickGOQ9UQ90
Ontology : AmiGOmetalloendopeptidase activity  protein binding  ATP binding  mitochondrion  proteolysis  mitochondrion organization  nervous system development  anterograde axon cargo transport  peptidase activity  zinc ion binding  integral component of membrane  mitochondrial membrane  unfolded protein binding  
Ontology : EGO-EBImetalloendopeptidase activity  protein binding  ATP binding  mitochondrion  proteolysis  mitochondrion organization  nervous system development  anterograde axon cargo transport  peptidase activity  zinc ion binding  integral component of membrane  mitochondrial membrane  unfolded protein binding  
Protein Interaction DatabaseSPG7
DoCM (Curated mutations)SPG7
Wikipedia pathwaysSPG7
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerSPG7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPG7
dbVarSPG7
ClinVarSPG7
1000_GenomesSPG7 
Exome Variant ServerSPG7
SNP (GeneSNP Utah)SPG7
SNP : HGBaseSPG7
Genetic variants : HAPMAPSPG7
Genomic Variants (DGV)SPG7 [DGVbeta]
Mutations
ICGC Data PortalENSG00000197912 
Somatic Mutations in Cancer : COSMICSPG7 
CONAN: Copy Number AnalysisSPG7 
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)16:89574796-89624176
Mutations and Diseases : HGMDSPG7
OMIM602783    607259   
MedgenSPG7
NextProtQ9UQ90 [Medical]
GENETestsSPG7
Disease Genetic AssociationSPG7
Huge Navigator SPG7 [HugePedia]  SPG7 [HugeCancerGEM]
snp3D : Map Gene to Disease6687
DGIdb (Drug Gene Interaction db)SPG7
General knowledge
Homologs : HomoloGeneSPG7
Homology/Alignments : Family Browser (UCSC)SPG7
Phylogenetic Trees/Animal Genes : TreeFamSPG7
Chemical/Protein Interactions : CTD6687
Chemical/Pharm GKB GenePA36067
Clinical trialSPG7
Cancer Resource (Charite)ENSG00000197912
Other databases
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
CoreMineSPG7
GoPubMedSPG7
iHOPSPG7
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 17:29:07 CET 2015

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