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POTEH (POTE ankyrin domain family member H)

Identity

Alias_namesACTBL1
A26C3
actin, beta-like 1
ANKRD26-like family C, member 3
POTE ankyrin domain family, member H
Alias_symbol (synonym)POTE22
CT104.7
Other alias
HGNC (Hugo) POTEH
LocusID (NCBI) 23784
Atlas_Id 72088
Location 22q11.1  [Link to chromosome band 22q11]
Location_base_pair Starts at 15690026 and ends at 15721631 bp from pter ( according to hg38-Dec_2013)

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)POTEH   133
Cards
Entrez_Gene (NCBI)POTEH  23784  POTE ankyrin domain family member H
AliasesA26C3; ACTBL1; CT104.7; POTE22
GeneCards (Weizmann)POTEH
Ensembl hg19 (Hinxton)ENSG00000198062 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198062 [Gene_View]  chr22:15690026-15721631 [Contig_View]  POTEH [Vega]
ICGC DataPortalENSG00000198062
TCGA cBioPortalPOTEH
AceView (NCBI)POTEH
Genatlas (Paris)POTEH
WikiGenes23784
SOURCE (Princeton)POTEH
Genetics Home Reference (NIH)POTEH
Genomic and cartography
GoldenPath hg38 (UCSC)POTEH  -     chr22:15690026-15721631 +  22q11.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POTEH  -     22q11.1   [Description]    (hg19-Feb_2009)
EnsemblPOTEH - 22q11.1 [CytoView hg19]  POTEH - 22q11.1 [CytoView hg38]
Mapping of homologs : NCBIPOTEH [Mapview hg19]  POTEH [Mapview hg38]
OMIM608913   
Gene and transcription
Genbank (Entrez)AY466021 BC148505 BC148758
RefSeq transcript (Entrez)NM_001004053 NM_001136213
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)POTEH
Cluster EST : UnigeneHs.581075 [ NCBI ]
CGAP (NCI)Hs.581075
Alternative Splicing GalleryENSG00000198062
Gene ExpressionPOTEH [ NCBI-GEO ]   POTEH [ EBI - ARRAY_EXPRESS ]   POTEH [ SEEK ]   POTEH [ MEM ]
Gene Expression Viewer (FireBrowse)POTEH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23784
GTEX Portal (Tissue expression)POTEH
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6S545   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6S545  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6S545
Splice isoforms : SwissVarQ6S545
PhosPhoSitePlusQ6S545
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom   
Domain families : Pfam (Sanger)Ank_2 (PF12796)   
Domain families : Pfam (NCBI)pfam12796   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)POTEH
DMDM Disease mutations23784
Blocks (Seattle)POTEH
SuperfamilyQ6S545
Human Protein AtlasENSG00000198062
Peptide AtlasQ6S545
HPRD16403
IPIIPI00436748   IPI00970870   IPI00477130   IPI01011471   
Protein Interaction databases
DIP (DOE-UCLA)Q6S545
IntAct (EBI)Q6S545
FunCoupENSG00000198062
BioGRIDPOTEH
STRING (EMBL)POTEH
ZODIACPOTEH
Ontologies - Pathways
QuickGOQ6S545
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkPOTEH
Atlas of Cancer Signalling NetworkPOTEH
Wikipedia pathwaysPOTEH
Orthology - Evolution
OrthoDB23784
GeneTree (enSembl)ENSG00000198062
Phylogenetic Trees/Animal Genes : TreeFamPOTEH
HOVERGENQ6S545
HOGENOMQ6S545
Homologs : HomoloGenePOTEH
Homology/Alignments : Family Browser (UCSC)POTEH
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOTEH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POTEH
dbVarPOTEH
ClinVarPOTEH
1000_GenomesPOTEH 
Exome Variant ServerPOTEH
ExAC (Exome Aggregation Consortium)POTEH (select the gene name)
Genetic variants : HAPMAP23784
Genomic Variants (DGV)POTEH [DGVbeta]
DECIPHERPOTEH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOTEH 
Mutations
ICGC Data PortalPOTEH 
TCGA Data PortalPOTEH 
Broad Tumor PortalPOTEH
OASIS PortalPOTEH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPOTEH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPOTEH
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 POTEH
DgiDB (Drug Gene Interaction Database)POTEH
DoCM (Curated mutations)POTEH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POTEH (select a term)
intoGenPOTEH
Cancer3DPOTEH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608913   
Orphanet
MedgenPOTEH
Genetic Testing Registry POTEH
NextProtQ6S545 [Medical]
TSGene23784
GENETestsPOTEH
Target ValidationPOTEH
Huge Navigator POTEH [HugePedia]
snp3D : Map Gene to Disease23784
BioCentury BCIQPOTEH
ClinGenPOTEH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23784
Chemical/Pharm GKB GenePA24458
Clinical trialPOTEH
Miscellaneous
canSAR (ICR)POTEH (select the gene name)
Probes
Litterature
PubMed4 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOTEH
EVEXPOTEH
GoPubMedPOTEH
iHOPPOTEH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:34:59 CEST 2017

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