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HIGD1A (HIG1 hypoxia inducible domain family member 1A)

Identity

Alias (NCBI)HIG1
RCF1a
HGNC (Hugo) HIGD1A
HGNC Alias symbHIG1
DKFZP564K247
RCF1A
HGNC Alias namehypoxia inducible gene 1
HGNC Previous nameHIG1 domain family, member 1A
 HIG1 hypoxia inducible domain family, member 1A
LocusID (NCBI) 25994
Atlas_Id 46646
Location 3p22.1  [Link to chromosome band 3p22]
Location_base_pair Starts at 42782908 and ends at 42804490 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CCNE1 (19q12)::HIGD1A (3p22.1)

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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  Nodular lymphocyte-predominant Hodgkin lymphoma


External links

 

Nomenclature
HGNC (Hugo)HIGD1A   29527
Cards
Entrez_Gene (NCBI)HIGD1A    HIG1 hypoxia inducible domain family member 1A
AliasesHIG1; RCF1a
GeneCards (Weizmann)HIGD1A
Ensembl hg19 (Hinxton)ENSG00000181061 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000181061 [Gene_View]  ENSG00000181061 [Sequence]  chr3:42782908-42804490 [Contig_View]  HIGD1A [Vega]
ICGC DataPortalENSG00000181061
TCGA cBioPortalHIGD1A
AceView (NCBI)HIGD1A
Genatlas (Paris)HIGD1A
SOURCE (Princeton)HIGD1A
Genetics Home Reference (NIH)HIGD1A
Genomic and cartography
GoldenPath hg38 (UCSC)HIGD1A  -     chr3:42782908-42804490 -  3p22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)HIGD1A  -     3p22.1   [Description]    (hg19-Feb_2009)
GoldenPathHIGD1A - 3p22.1 [CytoView hg19]  HIGD1A - 3p22.1 [CytoView hg38]
ImmunoBaseENSG00000181061
Genome Data Viewer NCBIHIGD1A [Mapview hg19]  
OMIM618623   
Gene and transcription
Genbank (Entrez)AF077034 AF145385 AK225461 AK225571 AK311815
RefSeq transcript (Entrez)NM_001099668 NM_001099669 NM_014056
Consensus coding sequences : CCDS (NCBI)HIGD1A
Gene ExpressionHIGD1A [ NCBI-GEO ]   HIGD1A [ EBI - ARRAY_EXPRESS ]   HIGD1A [ SEEK ]   HIGD1A [ MEM ]
Gene Expression Viewer (FireBrowse)HIGD1A [ Firebrowse - Broad ]
GenevisibleExpression of HIGD1A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25994
GTEX Portal (Tissue expression)HIGD1A
Human Protein AtlasENSG00000181061-HIGD1A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y241   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y241  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y241
PhosPhoSitePlusQ9Y241
Domaine pattern : Prosite (Expaxy)HIG1 (PS51503)   
Domains : Interpro (EBI)Hypoxia_induced_domain   
Domain families : Pfam (Sanger)HIG_1_N (PF04588)   
Domain families : Pfam (NCBI)pfam04588   
Conserved Domain (NCBI)HIGD1A
PDB (RSDB)2LOM   
PDB Europe2LOM   
PDB (PDBSum)2LOM   
PDB (IMB)2LOM   
Structural Biology KnowledgeBase2LOM   
SCOP (Structural Classification of Proteins)2LOM   
CATH (Classification of proteins structures)2LOM   
SuperfamilyQ9Y241
AlphaFold pdb e-kbQ9Y241   
Human Protein Atlas [tissue]ENSG00000181061-HIGD1A [tissue]
HPRD13651
Protein Interaction databases
DIP (DOE-UCLA)Q9Y241
IntAct (EBI)Q9Y241
BioGRIDHIGD1A
STRING (EMBL)HIGD1A
ZODIACHIGD1A
Ontologies - Pathways
QuickGOQ9Y241
Ontology : AmiGOnucleoplasm  mitochondrion  mitochondrion  mitochondrial inner membrane  integral component of membrane  protein-containing complex  negative regulation of apoptotic process  negative regulation of apoptotic process  respirasome  mitochondrial respirasome assembly  
Ontology : EGO-EBInucleoplasm  mitochondrion  mitochondrion  mitochondrial inner membrane  integral component of membrane  protein-containing complex  negative regulation of apoptotic process  negative regulation of apoptotic process  respirasome  mitochondrial respirasome assembly  
NDEx NetworkHIGD1A
Atlas of Cancer Signalling NetworkHIGD1A
Wikipedia pathwaysHIGD1A
Orthology - Evolution
OrthoDB25994
GeneTree (enSembl)ENSG00000181061
Phylogenetic Trees/Animal Genes : TreeFamHIGD1A
Homologs : HomoloGeneHIGD1A
Homology/Alignments : Family Browser (UCSC)HIGD1A
Gene fusions - Rearrangements
Fusion : QuiverHIGD1A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHIGD1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HIGD1A
dbVarHIGD1A
ClinVarHIGD1A
MonarchHIGD1A
1000_GenomesHIGD1A 
Exome Variant ServerHIGD1A
GNOMAD BrowserENSG00000181061
Varsome BrowserHIGD1A
ACMGHIGD1A variants
VarityQ9Y241
Genomic Variants (DGV)HIGD1A [DGVbeta]
DECIPHERHIGD1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisHIGD1A 
Mutations
ICGC Data PortalHIGD1A 
TCGA Data PortalHIGD1A 
Broad Tumor PortalHIGD1A
OASIS PortalHIGD1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHIGD1A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DHIGD1A
Mutations and Diseases : HGMDHIGD1A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaHIGD1A
DgiDB (Drug Gene Interaction Database)HIGD1A
DoCM (Curated mutations)HIGD1A
CIViC (Clinical Interpretations of Variants in Cancer)HIGD1A
Cancer3DHIGD1A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618623   
Orphanet
DisGeNETHIGD1A
MedgenHIGD1A
Genetic Testing Registry HIGD1A
NextProtQ9Y241 [Medical]
GENETestsHIGD1A
Target ValidationHIGD1A
Huge Navigator HIGD1A [HugePedia]
ClinGenHIGD1A
Clinical trials, drugs, therapy
MyCancerGenomeHIGD1A
Protein Interactions : CTDHIGD1A
Pharm GKB GenePA142671681
PharosQ9Y241
Clinical trialHIGD1A
Miscellaneous
canSAR (ICR)HIGD1A
HarmonizomeHIGD1A
ARCHS4HIGD1A
DataMed IndexHIGD1A
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXHIGD1A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:36:55 CET 2022

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