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ALMS1P (Alstrom syndrome 1 pseudogene)

Identity

Other aliasALMS1L
HGNC (Hugo) ALMS1P
LocusID (NCBI) 200420
Atlas_Id 60260
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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ALMS1P   29586
Cards
Entrez_Gene (NCBI)ALMS1P  200420  Alstrom syndrome 1 pseudogene
AliasesALMS1L
GeneCards (Weizmann)ALMS1P
Ensembl hg19 (Hinxton)ENSG00000163016 [Gene_View]  chr2:73868105-73900632 [Contig_View]  ALMS1P [Vega]
Ensembl hg38 (Hinxton)ENSG00000163016 [Gene_View]  chr2:73868105-73900632 [Contig_View]  ALMS1P [Vega]
ICGC DataPortalENSG00000163016
TCGA cBioPortalALMS1P
AceView (NCBI)ALMS1P
Genatlas (Paris)ALMS1P
WikiGenes200420
SOURCE (Princeton)ALMS1P
Genetics Home Reference (NIH)ALMS1P
Genomic and cartography
GoldenPath hg19 (UCSC)ALMS1P  -     chr2:73868105-73900632 +  2p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ALMS1P  -     2p13.1   [Description]    (hg38-Dec_2013)
EnsemblALMS1P - 2p13.1 [CytoView hg19]  ALMS1P - 2p13.1 [CytoView hg38]
Mapping of homologs : NCBIALMS1P [Mapview hg19]  ALMS1P [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)ALMS1P
Cluster EST : UnigeneHs.745426 [ NCBI ]
CGAP (NCI)Hs.745426
Alternative Splicing GalleryENSG00000163016
Gene ExpressionALMS1P [ NCBI-GEO ]   ALMS1P [ EBI - ARRAY_EXPRESS ]   ALMS1P [ SEEK ]   ALMS1P [ MEM ]
Gene Expression Viewer (FireBrowse)ALMS1P [ 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)ALMS1P
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)ALMS1P
DMDM Disease mutations200420
Blocks (Seattle)ALMS1P
SuperfamilyQ96L16
Human Protein AtlasENSG00000163016
Peptide AtlasQ96L16
HPRD11245
IPIIPI00064744   
Protein Interaction databases
DIP (DOE-UCLA)Q96L16
IntAct (EBI)Q96L16
FunCoupENSG00000163016
BioGRIDALMS1P
STRING (EMBL)ALMS1P
ZODIACALMS1P
Ontologies - Pathways
QuickGOQ96L16
Ontology : AmiGOintracellular  endosomal transport  regulation of stress fiber assembly  
Ontology : EGO-EBIintracellular  endosomal transport  regulation of stress fiber assembly  
NDEx NetworkALMS1P
Atlas of Cancer Signalling NetworkALMS1P
Wikipedia pathwaysALMS1P
Orthology - Evolution
OrthoDB200420
GeneTree (enSembl)ENSG00000163016
Phylogenetic Trees/Animal Genes : TreeFamALMS1P
HOVERGENQ96L16
HOGENOMQ96L16
Homologs : HomoloGeneALMS1P
Homology/Alignments : Family Browser (UCSC)ALMS1P
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALMS1P [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALMS1P
dbVarALMS1P
ClinVarALMS1P
1000_GenomesALMS1P 
Exome Variant ServerALMS1P
ExAC (Exome Aggregation Consortium)ALMS1P (select the gene name)
Genetic variants : HAPMAP200420
Genomic Variants (DGV)ALMS1P [DGVbeta]
DECIPHER (Syndromes)2:73868105-73900632  ENSG00000163016
CONAN: Copy Number AnalysisALMS1P 
Mutations
ICGC Data PortalALMS1P 
TCGA Data PortalALMS1P 
Broad Tumor PortalALMS1P
OASIS PortalALMS1P [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDALMS1P
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 ALMS1P
DgiDB (Drug Gene Interaction Database)ALMS1P
DoCM (Curated mutations)ALMS1P (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALMS1P (select a term)
intoGenALMS1P
Cancer3DALMS1P(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenALMS1P
Genetic Testing Registry ALMS1P
NextProtQ96L16 [Medical]
TSGene200420
GENETestsALMS1P
Huge Navigator ALMS1P [HugePedia]
snp3D : Map Gene to Disease200420
BioCentury BCIQALMS1P
ClinGenALMS1P
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD200420
Clinical trialALMS1P
Miscellaneous
canSAR (ICR)ALMS1P (select the gene name)
Probes
Litterature
PubMed5 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALMS1P
EVEXALMS1P
GoPubMedALMS1P
iHOPALMS1P
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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