Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ERGIC1 (endoplasmic reticulum-golgi intermediate compartment 1)

Identity

Alias_namesendoplasmic reticulum-golgi intermediate compartment (ERGIC) 1
Alias_symbol (synonym)ERGIC32
ERGIC-32
KIAA1181
NET24
Other aliasAMCN
HGNC (Hugo) ERGIC1
LocusID (NCBI) 57222
Atlas_Id 53137
Location 5q35.1  [Link to chromosome band 5q35]
Location_base_pair Starts at 172834220 and ends at 172952685 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)
CSTB (21q22.3) / ERGIC1 (5q35.1)ERGIC1 (5q35.1) / EIF3B (7p22.3)ERGIC1 (5q35.1) / ERGIC1 (5q35.1)
ERGIC1 (5q35.1) / GMDS (6p25.3)ERGIC1 (5q35.1) / MALAT1 (11q13.1)ERGIC1 (5q35.1) / MAU2 (19p13.11)
ERGIC1 (5q35.1) / RANBP17 (5q35.1)ERGIC1 (5q35.1) / ZZEF1 (17p13.2)EXOC3 (5p15.33) / ERGIC1 (5q35.1)
PVR (19q13.31) / ERGIC1 (5q35.1)TP53INP2 (20q11.22) / ERGIC1 (5q35.1)TPX2 (20q11.21) / ERGIC1 (5q35.1)
ERGIC1 5q35.1 / RANBP17 5q35.1

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 Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]

Solid Tumors TT_t0505p15q35ID106644 TT_t0505q35q35ID106761

External links

Nomenclature
HGNC (Hugo)ERGIC1   29205
Cards
Entrez_Gene (NCBI)ERGIC1  57222  endoplasmic reticulum-golgi intermediate compartment 1
AliasesAMCN; ERGIC-32; ERGIC32; NET24
GeneCards (Weizmann)ERGIC1
Ensembl hg19 (Hinxton)ENSG00000113719 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113719 [Gene_View]  ENSG00000113719 [Sequence]  chr5:172834220-172952685 [Contig_View]  ERGIC1 [Vega]
ICGC DataPortalENSG00000113719
TCGA cBioPortalERGIC1
AceView (NCBI)ERGIC1
Genatlas (Paris)ERGIC1
WikiGenes57222
SOURCE (Princeton)ERGIC1
Genetics Home Reference (NIH)ERGIC1
Genomic and cartography
GoldenPath hg38 (UCSC)ERGIC1  -     chr5:172834220-172952685 +  5q35.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ERGIC1  -     5q35.1   [Description]    (hg19-Feb_2009)
GoldenPathERGIC1 - 5q35.1 [CytoView hg19]  ERGIC1 - 5q35.1 [CytoView hg38]
ImmunoBaseENSG00000113719
Mapping of homologs : NCBIERGIC1 [Mapview hg19]  ERGIC1 [Mapview hg38]
OMIM208100   617946   
Gene and transcription
Genbank (Entrez)AB033007 AF267855 AK000752 AK026049 AK027085
RefSeq transcript (Entrez)NM_001031711 NM_020462
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ERGIC1
Cluster EST : UnigeneHs.509163 [ NCBI ]
CGAP (NCI)Hs.509163
Alternative Splicing GalleryENSG00000113719
Gene ExpressionERGIC1 [ NCBI-GEO ]   ERGIC1 [ EBI - ARRAY_EXPRESS ]   ERGIC1 [ SEEK ]   ERGIC1 [ MEM ]
Gene Expression Viewer (FireBrowse)ERGIC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57222
GTEX Portal (Tissue expression)ERGIC1
Human Protein AtlasENSG00000113719-ERGIC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969X5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ969X5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969X5
Splice isoforms : SwissVarQ969X5
PhosPhoSitePlusQ969X5
Domains : Interpro (EBI)Erv_C   
Domain families : Pfam (Sanger)COPIIcoated_ERV (PF07970)   
Domain families : Pfam (NCBI)pfam07970   
Conserved Domain (NCBI)ERGIC1
DMDM Disease mutations57222
Blocks (Seattle)ERGIC1
SuperfamilyQ969X5
Human Protein Atlas [tissue]ENSG00000113719-ERGIC1 [tissue]
Peptide AtlasQ969X5
HPRD13836
IPIIPI00022887   IPI00021763   IPI00003635   IPI00979997   IPI00916451   IPI00916582   IPI00916716   IPI00916999   IPI00983506   IPI00985483   
Protein Interaction databases
DIP (DOE-UCLA)Q969X5
IntAct (EBI)Q969X5
FunCoupENSG00000113719
BioGRIDERGIC1
STRING (EMBL)ERGIC1
ZODIACERGIC1
Ontologies - Pathways
QuickGOQ969X5
Ontology : AmiGOGolgi membrane  protein binding  nucleoplasm  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  endoplasmic reticulum-Golgi intermediate compartment  ER to Golgi vesicle-mediated transport  ER to Golgi vesicle-mediated transport  retrograde vesicle-mediated transport, Golgi to ER  membrane  integral component of membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  intracellular membrane-bounded organelle  
Ontology : EGO-EBIGolgi membrane  protein binding  nucleoplasm  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  endoplasmic reticulum-Golgi intermediate compartment  ER to Golgi vesicle-mediated transport  ER to Golgi vesicle-mediated transport  retrograde vesicle-mediated transport, Golgi to ER  membrane  integral component of membrane  endoplasmic reticulum-Golgi intermediate compartment membrane  intracellular membrane-bounded organelle  
NDEx NetworkERGIC1
Atlas of Cancer Signalling NetworkERGIC1
Wikipedia pathwaysERGIC1
Orthology - Evolution
OrthoDB57222
GeneTree (enSembl)ENSG00000113719
Phylogenetic Trees/Animal Genes : TreeFamERGIC1
HOGENOMQ969X5
Homologs : HomoloGeneERGIC1
Homology/Alignments : Family Browser (UCSC)ERGIC1
Gene fusions - Rearrangements
Fusion : MitelmanERGIC1/RANBP17 [5q35.1/5q35.1]  
Fusion : MitelmanEXOC3/ERGIC1 [5p15.33/5q35.1]  [t(5;5)(p15;q35)]  
Fusion PortalERGIC1 5q35.1 RANBP17 5q35.1 LUSC
Fusion : QuiverERGIC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerERGIC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ERGIC1
dbVarERGIC1
ClinVarERGIC1
1000_GenomesERGIC1 
Exome Variant ServerERGIC1
ExAC (Exome Aggregation Consortium)ENSG00000113719
GNOMAD BrowserENSG00000113719
Varsome BrowserERGIC1
Genetic variants : HAPMAP57222
Genomic Variants (DGV)ERGIC1 [DGVbeta]
DECIPHERERGIC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisERGIC1 
Mutations
ICGC Data PortalERGIC1 
TCGA Data PortalERGIC1 
Broad Tumor PortalERGIC1
OASIS PortalERGIC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICERGIC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DERGIC1
Mutations and Diseases : HGMDERGIC1
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 ERGIC1
DgiDB (Drug Gene Interaction Database)ERGIC1
DoCM (Curated mutations)ERGIC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ERGIC1 (select a term)
intoGenERGIC1
Cancer3DERGIC1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM208100    617946   
Orphanet
DisGeNETERGIC1
MedgenERGIC1
Genetic Testing Registry ERGIC1
NextProtQ969X5 [Medical]
TSGene57222
GENETestsERGIC1
Target ValidationERGIC1
Huge Navigator ERGIC1 [HugePedia]
snp3D : Map Gene to Disease57222
BioCentury BCIQERGIC1
ClinGenERGIC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57222
Chemical/Pharm GKB GenePA143485456
Clinical trialERGIC1
Miscellaneous
canSAR (ICR)ERGIC1 (select the gene name)
DataMed IndexERGIC1
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineERGIC1
EVEXERGIC1
GoPubMedERGIC1
iHOPERGIC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 26 18:07:31 CEST 2019
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