Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

C17orf49 (chromosome 17 open reading frame 49)

Identity

Alias_symbol (synonym)MGC49942
BAP18
HEPIS
Other alias
HGNC (Hugo) C17orf49
LocusID (NCBI) 124944
Atlas_Id 60990
Location 17p13.1  [Link to chromosome band 17p13]
Location_base_pair Starts at 6918056 and ends at 6920843 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C17orf49 (17p13.1) / OPA3 (19q13.32)C17orf49 (17p13.1) / STK10 (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

 


External links

Nomenclature
HGNC (Hugo)C17orf49   28737
Cards
Entrez_Gene (NCBI)C17orf49  124944  chromosome 17 open reading frame 49
AliasesBAP18; HEPIS
GeneCards (Weizmann)C17orf49
Ensembl hg19 (Hinxton)ENSG00000258315 [Gene_View]  chr17:6918056-6920843 [Contig_View]  C17orf49 [Vega]
Ensembl hg38 (Hinxton)ENSG00000258315 [Gene_View]  chr17:6918056-6920843 [Contig_View]  C17orf49 [Vega]
ICGC DataPortalENSG00000258315
TCGA cBioPortalC17orf49
AceView (NCBI)C17orf49
Genatlas (Paris)C17orf49
WikiGenes124944
SOURCE (Princeton)C17orf49
Genetics Home Reference (NIH)C17orf49
Genomic and cartography
GoldenPath hg19 (UCSC)C17orf49  -     chr17:6918056-6920843 +  17p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)C17orf49  -     17p13.1   [Description]    (hg38-Dec_2013)
EnsemblC17orf49 - 17p13.1 [CytoView hg19]  C17orf49 - 17p13.1 [CytoView hg38]
Mapping of homologs : NCBIC17orf49 [Mapview hg19]  C17orf49 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AI183273 AK055800 AK295795 BC040036 BM011108
RefSeq transcript (Entrez)NM_001142798 NM_001142799 NM_174893
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)C17orf49
Cluster EST : UnigeneHs.511801 [ NCBI ]
CGAP (NCI)Hs.511801
Alternative Splicing GalleryENSG00000258315
Gene ExpressionC17orf49 [ NCBI-GEO ]   C17orf49 [ EBI - ARRAY_EXPRESS ]   C17orf49 [ SEEK ]   C17orf49 [ MEM ]
Gene Expression Viewer (FireBrowse)C17orf49 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)124944
GTEX Portal (Tissue expression)C17orf49
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IXM2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IXM2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IXM2
Splice isoforms : SwissVarQ8IXM2
PhosPhoSitePlusQ8IXM2
Domains : Interpro (EBI)Homeodomain-like    SANT/Myb   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)SANT (SM00717)  
Conserved Domain (NCBI)C17orf49
DMDM Disease mutations124944
Blocks (Seattle)C17orf49
SuperfamilyQ8IXM2
Human Protein AtlasENSG00000258315
Peptide AtlasQ8IXM2
HPRD14662
IPIIPI00790228   IPI01022219   IPI01022364   IPI00793392   IPI00373869   
Protein Interaction databases
DIP (DOE-UCLA)Q8IXM2
IntAct (EBI)Q8IXM2
FunCoupENSG00000258315
BioGRIDC17orf49
STRING (EMBL)C17orf49
ZODIACC17orf49
Ontologies - Pathways
QuickGOQ8IXM2
Ontology : AmiGODNA binding  chromatin binding  chromatin modification  NURF complex  MLL1 complex  
Ontology : EGO-EBIDNA binding  chromatin binding  chromatin modification  NURF complex  MLL1 complex  
NDEx NetworkC17orf49
Atlas of Cancer Signalling NetworkC17orf49
Wikipedia pathwaysC17orf49
Orthology - Evolution
OrthoDB124944
GeneTree (enSembl)ENSG00000258315
Phylogenetic Trees/Animal Genes : TreeFamC17orf49
HOVERGENQ8IXM2
HOGENOMQ8IXM2
Homologs : HomoloGeneC17orf49
Homology/Alignments : Family Browser (UCSC)C17orf49
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerC17orf49 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)C17orf49
dbVarC17orf49
ClinVarC17orf49
1000_GenomesC17orf49 
Exome Variant ServerC17orf49
ExAC (Exome Aggregation Consortium)C17orf49 (select the gene name)
Genetic variants : HAPMAP124944
Genomic Variants (DGV)C17orf49 [DGVbeta]
DECIPHER (Syndromes)17:6918056-6920843  ENSG00000258315
CONAN: Copy Number AnalysisC17orf49 
Mutations
ICGC Data PortalC17orf49 
TCGA Data PortalC17orf49 
Broad Tumor PortalC17orf49
OASIS PortalC17orf49 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICC17orf49  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDC17orf49
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 C17orf49
DgiDB (Drug Gene Interaction Database)C17orf49
DoCM (Curated mutations)C17orf49 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)C17orf49 (select a term)
intoGenC17orf49
Cancer3DC17orf49(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenC17orf49
Genetic Testing Registry C17orf49
NextProtQ8IXM2 [Medical]
TSGene124944
GENETestsC17orf49
Huge Navigator C17orf49 [HugePedia]
snp3D : Map Gene to Disease124944
BioCentury BCIQC17orf49
ClinGenC17orf49
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD124944
Chemical/Pharm GKB GenePA142672232
Clinical trialC17orf49
Miscellaneous
canSAR (ICR)C17orf49 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineC17orf49
EVEXC17orf49
GoPubMedC17orf49
iHOPC17orf49
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 : Tue Mar 14 11:56:41 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.