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ALMS1P1 (ALMS1, centrosome and basal body associated protein pseudogene 1)

Identity

Alias_namesALMS1L
ALMS1P
Alstrom syndrome 1-like
Alstrom syndrome 1 pseudogene
Other alias
HGNC (Hugo) ALMS1P1
LocusID (NCBI) 200420
Atlas_Id 78202
Location 2p13.1  [Link to chromosome band 2p13]
Location_base_pair Starts at 73868105 and ends at 73900632 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


External links

Nomenclature
HGNC (Hugo)ALMS1P1   29586
Cards
Entrez_Gene (NCBI)ALMS1P1  200420  ALMS1, centrosome and basal body associated protein pseudogene 1
AliasesALMS1L; ALMS1P
GeneCards (Weizmann)ALMS1P1
Ensembl hg19 (Hinxton)ENSG00000163016 [Gene_View]  chr2:73868105-73900632 [Contig_View]  ALMS1P1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000163016 [Gene_View]  chr2:73868105-73900632 [Contig_View]  ALMS1P1 [Vega]
ICGC DataPortalENSG00000163016
TCGA cBioPortalALMS1P1
AceView (NCBI)ALMS1P1
Genatlas (Paris)ALMS1P1
WikiGenes200420
SOURCE (Princeton)ALMS1P1
Genetics Home Reference (NIH)ALMS1P1
Genomic and cartography
GoldenPath hg19 (UCSC)ALMS1P1  -     chr2:73868105-73900632 +  2p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ALMS1P1  -     2p13.1   [Description]    (hg38-Dec_2013)
EnsemblALMS1P1 - 2p13.1 [CytoView hg19]  ALMS1P1 - 2p13.1 [CytoView hg38]
Mapping of homologs : NCBIALMS1P1 [Mapview hg19]  ALMS1P1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK307160 BC014492 DA427693 DQ893051 DQ896299
RefSeq transcript (Entrez)NM_145300
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)ALMS1P1
Cluster EST : UnigeneHs.745426 [ NCBI ]
CGAP (NCI)Hs.745426
Alternative Splicing GalleryENSG00000163016
Gene ExpressionALMS1P1 [ NCBI-GEO ]   ALMS1P1 [ EBI - ARRAY_EXPRESS ]   ALMS1P1 [ SEEK ]   ALMS1P1 [ MEM ]
Gene Expression Viewer (FireBrowse)ALMS1P1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)200420
GTEX Portal (Tissue expression)ALMS1P1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96L16   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96L16  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96L16
Splice isoforms : SwissVarQ96L16
PhosPhoSitePlusQ96L16
Domains : Interpro (EBI)ALMS1    ALMS_motif   
Domain families : Pfam (Sanger)ALMS_motif (PF15309)   
Domain families : Pfam (NCBI)pfam15309   
Conserved Domain (NCBI)ALMS1P1
DMDM Disease mutations200420
Blocks (Seattle)ALMS1P1
SuperfamilyQ96L16
Human Protein AtlasENSG00000163016
Peptide AtlasQ96L16
HPRD11245
IPIIPI00064744   
Protein Interaction databases
DIP (DOE-UCLA)Q96L16
IntAct (EBI)Q96L16
FunCoupENSG00000163016
BioGRIDALMS1P1
STRING (EMBL)ALMS1P1
ZODIACALMS1P1
Ontologies - Pathways
QuickGOQ96L16
Ontology : AmiGOintracellular  endosomal transport  regulation of stress fiber assembly  
Ontology : EGO-EBIintracellular  endosomal transport  regulation of stress fiber assembly  
NDEx NetworkALMS1P1
Atlas of Cancer Signalling NetworkALMS1P1
Wikipedia pathwaysALMS1P1
Orthology - Evolution
OrthoDB200420
GeneTree (enSembl)ENSG00000163016
Phylogenetic Trees/Animal Genes : TreeFamALMS1P1
HOVERGENQ96L16
HOGENOMQ96L16
Homologs : HomoloGeneALMS1P1
Homology/Alignments : Family Browser (UCSC)ALMS1P1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALMS1P1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALMS1P1
dbVarALMS1P1
ClinVarALMS1P1
1000_GenomesALMS1P1 
Exome Variant ServerALMS1P1
ExAC (Exome Aggregation Consortium)ALMS1P1 (select the gene name)
Genetic variants : HAPMAP200420
Genomic Variants (DGV)ALMS1P1 [DGVbeta]
DECIPHER (Syndromes)2:73868105-73900632  ENSG00000163016
CONAN: Copy Number AnalysisALMS1P1 
Mutations
ICGC Data PortalALMS1P1 
TCGA Data PortalALMS1P1 
Broad Tumor PortalALMS1P1
OASIS PortalALMS1P1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDALMS1P1
BioMutasearch ALMS1P1
DgiDB (Drug Gene Interaction Database)ALMS1P1
DoCM (Curated mutations)ALMS1P1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALMS1P1 (select a term)
intoGenALMS1P1
Cancer3DALMS1P1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenALMS1P1
Genetic Testing Registry ALMS1P1
NextProtQ96L16 [Medical]
TSGene200420
GENETestsALMS1P1
Huge Navigator ALMS1P1 [HugePedia]
snp3D : Map Gene to Disease200420
BioCentury BCIQALMS1P1
ClinGenALMS1P1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD200420
Clinical trialALMS1P1
Miscellaneous
canSAR (ICR)ALMS1P1 (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALMS1P1
EVEXALMS1P1
GoPubMedALMS1P1
iHOPALMS1P1
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 11:54:08 CET 2017

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