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C17orf80 (chromosome 17 open reading frame 80)

Identity

Alias_symbol (synonym)HLC-8
MIG3
FLJ20721
SPEP1
Other alias
HGNC (Hugo) C17orf80
LocusID (NCBI) 55028
Atlas_Id 40832
Location 17q25.1  [Link to chromosome band 17q25]
Location_base_pair Starts at 73232622 and ends at 73248956 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C17orf80 (17q25.1) / ILF3 (19p13.2)C17orf80 (17q25.1) / MYCN (2p24.3)FAM104A (17q25.1) / C17orf80 (17q25.1)
ILF3 (19p13.2) / C17orf80 (17q25.1)LRRC8A (9q34.11) / C17orf80 (17q25.1)SLC39A11 (17q24.3) / C17orf80 (17q25.1)
SLC39A11 17q24.3 / C17orf80 17q25.1

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

 


External links

Nomenclature
HGNC (Hugo)C17orf80   29601
Cards
Entrez_Gene (NCBI)C17orf80  55028  chromosome 17 open reading frame 80
AliasesHLC-8; MIG3; SPEP1
GeneCards (Weizmann)C17orf80
Ensembl hg19 (Hinxton)ENSG00000141219 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141219 [Gene_View]  chr17:73232622-73248956 [Contig_View]  C17orf80 [Vega]
ICGC DataPortalENSG00000141219
TCGA cBioPortalC17orf80
AceView (NCBI)C17orf80
Genatlas (Paris)C17orf80
WikiGenes55028
SOURCE (Princeton)C17orf80
Genetics Home Reference (NIH)C17orf80
Genomic and cartography
GoldenPath hg38 (UCSC)C17orf80  -     chr17:73232622-73248956 +  17q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)C17orf80  -     17q25.1   [Description]    (hg19-Feb_2009)
EnsemblC17orf80 - 17q25.1 [CytoView hg19]  C17orf80 - 17q25.1 [CytoView hg38]
Mapping of homologs : NCBIC17orf80 [Mapview hg19]  C17orf80 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK000728 AK027166 AK292838 AK301905 AL136740
RefSeq transcript (Entrez)NM_001100621 NM_001100622 NM_001288770 NM_001288771 NM_017941
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)C17orf80
Cluster EST : UnigeneHs.12929 [ NCBI ]
CGAP (NCI)Hs.12929
Alternative Splicing GalleryENSG00000141219
Gene ExpressionC17orf80 [ NCBI-GEO ]   C17orf80 [ EBI - ARRAY_EXPRESS ]   C17orf80 [ SEEK ]   C17orf80 [ MEM ]
Gene Expression Viewer (FireBrowse)C17orf80 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55028
GTEX Portal (Tissue expression)C17orf80
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BSJ5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BSJ5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BSJ5
Splice isoforms : SwissVarQ9BSJ5
PhosPhoSitePlusQ9BSJ5
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)C17orf80
DMDM Disease mutations55028
Blocks (Seattle)C17orf80
SuperfamilyQ9BSJ5
Human Protein AtlasENSG00000141219
Peptide AtlasQ9BSJ5
HPRD17108
IPIIPI00153031   IPI00300242   IPI00844397   IPI01012951   IPI01015629   
Protein Interaction databases
DIP (DOE-UCLA)Q9BSJ5
IntAct (EBI)Q9BSJ5
FunCoupENSG00000141219
BioGRIDC17orf80
STRING (EMBL)C17orf80
ZODIACC17orf80
Ontologies - Pathways
QuickGOQ9BSJ5
Ontology : AmiGOmolecular_function  biological_process  integral component of membrane  extracellular exosome  
Ontology : EGO-EBImolecular_function  biological_process  integral component of membrane  extracellular exosome  
NDEx NetworkC17orf80
Atlas of Cancer Signalling NetworkC17orf80
Wikipedia pathwaysC17orf80
Orthology - Evolution
OrthoDB55028
GeneTree (enSembl)ENSG00000141219
Phylogenetic Trees/Animal Genes : TreeFamC17orf80
HOVERGENQ9BSJ5
HOGENOMQ9BSJ5
Homologs : HomoloGeneC17orf80
Homology/Alignments : Family Browser (UCSC)C17orf80
Gene fusions - Rearrangements
Fusion : MitelmanFAM104A/C17orf80 [17q25.1/17q25.1]  [t(17;17)(q25;q25)]  
Fusion : MitelmanSLC39A11/C17orf80 [17q24.3/17q25.1]  [t(17;17)(q25;q25)]  
Fusion: TCGASLC39A11 17q24.3 C17orf80 17q25.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC17orf80 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C17orf80
dbVarC17orf80
ClinVarC17orf80
1000_GenomesC17orf80 
Exome Variant ServerC17orf80
ExAC (Exome Aggregation Consortium)C17orf80 (select the gene name)
Genetic variants : HAPMAP55028
Genomic Variants (DGV)C17orf80 [DGVbeta]
DECIPHERC17orf80 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisC17orf80 
Mutations
ICGC Data PortalC17orf80 
TCGA Data PortalC17orf80 
Broad Tumor PortalC17orf80
OASIS PortalC17orf80 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC17orf80  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC17orf80
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 C17orf80
DgiDB (Drug Gene Interaction Database)C17orf80
DoCM (Curated mutations)C17orf80 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C17orf80 (select a term)
intoGenC17orf80
Cancer3DC17orf80(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenC17orf80
Genetic Testing Registry C17orf80
NextProtQ9BSJ5 [Medical]
TSGene55028
GENETestsC17orf80
Target ValidationC17orf80
Huge Navigator C17orf80 [HugePedia]
snp3D : Map Gene to Disease55028
BioCentury BCIQC17orf80
ClinGenC17orf80
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55028
Chemical/Pharm GKB GenePA143485404
Clinical trialC17orf80
Miscellaneous
canSAR (ICR)C17orf80 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC17orf80
EVEXC17orf80
GoPubMedC17orf80
iHOPC17orf80
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 13:48:18 CEST 2017

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