Atlas of Genetics and Cytogenetics in Oncology and Haematology

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IQSEC1 (IQ motif and Sec7 domain ArfGEF 1)

Identity

Alias_symbol (synonym)KIAA0763
GEP100
BRAG2
ARF-GEP100
Other aliasARFGEP100
IDDSSBA
HGNC (Hugo) IQSEC1
LocusID (NCBI) 9922
Atlas_Id 41061
Location 3p25.2  [Link to chromosome band 3p25]
Location_base_pair Starts at 12897221 and ends at 12967730 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)
BTN3A1 (6p22.2) / IQSEC1 (3p25.2)CCDC12 (3p21.31) / IQSEC1 (3p25.2)HCCS (Xp22.2) / IQSEC1 (3p25.2)
IQSEC1 (3p25.2) / COMT (22q11.21)IQSEC1 (3p25.2) / DDX3X (Xp11.4)IQSEC1 (3p25.2) / GSTM3 (1p13.3)
IQSEC1 (3p25.2) / IQSEC1 (3p25.2)IQSEC1 (3p25.2) / UCHL1 (4p13)IQSEC1 (3p25.2) / WNT7A (3p25.1)
KIF1A (2q37.3) / IQSEC1 (3p25.2)IQSEC1 3p25.2 / GSTM3 1p13.3IQSEC1 3p25.2 / WNT7A 3p25.1

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 ]
  t(1;3)(p13;p25) IQSEC1/GSTM3
IQSEC1/WNT7A (3p25)

External links

Nomenclature
HGNC (Hugo)IQSEC1   29112
Cards
Entrez_Gene (NCBI)IQSEC1  9922  IQ motif and Sec7 domain ArfGEF 1
AliasesARF-GEP100; ARFGEP100; BRAG2; GEP100; 
IDDSSBA
GeneCards (Weizmann)IQSEC1
Ensembl hg19 (Hinxton)ENSG00000144711 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000144711 [Gene_View]  ENSG00000144711 [Sequence]  chr3:12897221-12967730 [Contig_View]  IQSEC1 [Vega]
ICGC DataPortalENSG00000144711
TCGA cBioPortalIQSEC1
AceView (NCBI)IQSEC1
Genatlas (Paris)IQSEC1
WikiGenes9922
SOURCE (Princeton)IQSEC1
Genetics Home Reference (NIH)IQSEC1
Genomic and cartography
GoldenPath hg38 (UCSC)IQSEC1  -     chr3:12897221-12967730 -  3p25.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IQSEC1  -     3p25.2   [Description]    (hg19-Feb_2009)
GoldenPathIQSEC1 - 3p25.2 [CytoView hg19]  IQSEC1 - 3p25.2 [CytoView hg38]
ImmunoBaseENSG00000144711
genome Data Viewer NCBIIQSEC1 [Mapview hg19]  
OMIM610166   618687   
Gene and transcription
Genbank (Entrez)AB018306 AF055004 AK294525 AY653734 BC008088
RefSeq transcript (Entrez)NM_001134382 NM_001330619 NM_001376938 NM_014869
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IQSEC1
Alternative Splicing GalleryENSG00000144711
Gene ExpressionIQSEC1 [ NCBI-GEO ]   IQSEC1 [ EBI - ARRAY_EXPRESS ]   IQSEC1 [ SEEK ]   IQSEC1 [ MEM ]
Gene Expression Viewer (FireBrowse)IQSEC1 [ Firebrowse - Broad ]
GenevisibleExpression of IQSEC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9922
GTEX Portal (Tissue expression)IQSEC1
Human Protein AtlasENSG00000144711-IQSEC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6DN90   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6DN90  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6DN90
Splice isoforms : SwissVarQ6DN90
PhosPhoSitePlusQ6DN90
Domaine pattern : Prosite (Expaxy)IQ (PS50096)    SEC7 (PS50190)   
Domains : Interpro (EBI)IQ_motif_EF-hand-BS    IQSEC1    IQSEC_PH    PH-like_dom_sf    PH_domain    Sec7_C_sf    Sec7_dom    Sec7_dom_sf   
Domain families : Pfam (Sanger)IQ_SEC7_PH (PF16453)    Sec7 (PF01369)   
Domain families : Pfam (NCBI)pfam16453    pfam01369   
Domain families : Smart (EMBL)PH (SM00233)  Sec7 (SM00222)  
Conserved Domain (NCBI)IQSEC1
DMDM Disease mutations9922
Blocks (Seattle)IQSEC1
PDB (RSDB)3QWM    4C0A    5NLV    5NLY    6FNE   
PDB Europe3QWM    4C0A    5NLV    5NLY    6FNE   
PDB (PDBSum)3QWM    4C0A    5NLV    5NLY    6FNE   
PDB (IMB)3QWM    4C0A    5NLV    5NLY    6FNE   
Structural Biology KnowledgeBase3QWM    4C0A    5NLV    5NLY    6FNE   
SCOP (Structural Classification of Proteins)3QWM    4C0A    5NLV    5NLY    6FNE   
CATH (Classification of proteins structures)3QWM    4C0A    5NLV    5NLY    6FNE   
SuperfamilyQ6DN90
Human Protein Atlas [tissue]ENSG00000144711-IQSEC1 [tissue]
Peptide AtlasQ6DN90
HPRD11052
IPIIPI00457114   IPI00760711   IPI00926946   IPI00797572   
Protein Interaction databases
DIP (DOE-UCLA)Q6DN90
IntAct (EBI)Q6DN90
FunCoupENSG00000144711
BioGRIDIQSEC1
STRING (EMBL)IQSEC1
ZODIACIQSEC1
Ontologies - Pathways
QuickGOQ6DN90
Ontology : AmiGOARF guanyl-nucleotide exchange factor activity  protein binding  nucleolus  cytoplasm  lipid binding  membrane  actin cytoskeleton organization  regulation of ARF protein signal transduction  intracellular membrane-bounded organelle  positive regulation of GTPase activity  positive regulation of keratinocyte migration  dendritic spine development  positive regulation of focal adhesion disassembly  
Ontology : EGO-EBIARF guanyl-nucleotide exchange factor activity  protein binding  nucleolus  cytoplasm  lipid binding  membrane  actin cytoskeleton organization  regulation of ARF protein signal transduction  intracellular membrane-bounded organelle  positive regulation of GTPase activity  positive regulation of keratinocyte migration  dendritic spine development  positive regulation of focal adhesion disassembly  
Pathways : KEGGEndocytosis   
NDEx NetworkIQSEC1
Atlas of Cancer Signalling NetworkIQSEC1
Wikipedia pathwaysIQSEC1
Orthology - Evolution
OrthoDB9922
GeneTree (enSembl)ENSG00000144711
Phylogenetic Trees/Animal Genes : TreeFamIQSEC1
HOGENOMQ6DN90
Homologs : HomoloGeneIQSEC1
Homology/Alignments : Family Browser (UCSC)IQSEC1
Gene fusions - Rearrangements
Fusion : MitelmanIQSEC1/GSTM3 [3p25.2/1p13.3]  
Fusion : MitelmanIQSEC1/WNT7A [3p25.2/3p25.1]  
Fusion PortalIQSEC1 3p25.2 GSTM3 1p13.3 LUAD
Fusion PortalIQSEC1 3p25.2 WNT7A 3p25.1 BLCA
Fusion : QuiverIQSEC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIQSEC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IQSEC1
dbVarIQSEC1
ClinVarIQSEC1
1000_GenomesIQSEC1 
Exome Variant ServerIQSEC1
GNOMAD BrowserENSG00000144711
Varsome BrowserIQSEC1
Genetic variants : HAPMAP9922
Genomic Variants (DGV)IQSEC1 [DGVbeta]
DECIPHERIQSEC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIQSEC1 
Mutations
ICGC Data PortalIQSEC1 
TCGA Data PortalIQSEC1 
Broad Tumor PortalIQSEC1
OASIS PortalIQSEC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIQSEC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DIQSEC1
Mutations and Diseases : HGMDIQSEC1
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 IQSEC1
DgiDB (Drug Gene Interaction Database)IQSEC1
DoCM (Curated mutations)IQSEC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IQSEC1 (select a term)
intoGenIQSEC1
Cancer3DIQSEC1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610166    618687   
Orphanet
DisGeNETIQSEC1
MedgenIQSEC1
Genetic Testing Registry IQSEC1
NextProtQ6DN90 [Medical]
TSGene9922
GENETestsIQSEC1
Target ValidationIQSEC1
Huge Navigator IQSEC1 [HugePedia]
snp3D : Map Gene to Disease9922
BioCentury BCIQIQSEC1
ClinGenIQSEC1
Clinical trials, drugs, therapy
Protein Interactions : CTD9922
Pharm GKB GenePA128394566
Clinical trialIQSEC1
Miscellaneous
canSAR (ICR)IQSEC1 (select the gene name)
HarmonizomeIQSEC1
DataMed IndexIQSEC1
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIQSEC1
EVEXIQSEC1
GoPubMedIQSEC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 10 19:23:16 CEST 2020
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