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SOX30 (SRY-box 30)

Identity

Alias_namesSRY (sex determining region Y)-box 30
SRY box 30
Other alias-
HGNC (Hugo) SOX30
LocusID (NCBI) 11063
Atlas_Id 55515
Location 5q33.3  [Link to chromosome band 5q33]
Location_base_pair Starts at 157625679 and ends at 157671480 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
SFTPB (2p11.2) / SOX30 (5q33.3)SOX30 (5q33.3) / GOLGA5 (14q32.12)

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)SOX30   30635
Cards
Entrez_Gene (NCBI)SOX30  11063  SRY-box 30
Aliases
GeneCards (Weizmann)SOX30
Ensembl hg19 (Hinxton)ENSG00000039600 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000039600 [Gene_View]  chr5:157625679-157671480 [Contig_View]  SOX30 [Vega]
ICGC DataPortalENSG00000039600
TCGA cBioPortalSOX30
AceView (NCBI)SOX30
Genatlas (Paris)SOX30
WikiGenes11063
SOURCE (Princeton)SOX30
Genetics Home Reference (NIH)SOX30
Genomic and cartography
GoldenPath hg38 (UCSC)SOX30  -     chr5:157625679-157671480 -  5q33.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SOX30  -     5q33.3   [Description]    (hg19-Feb_2009)
EnsemblSOX30 - 5q33.3 [CytoView hg19]  SOX30 - 5q33.3 [CytoView hg38]
Mapping of homologs : NCBISOX30 [Mapview hg19]  SOX30 [Mapview hg38]
OMIM606698   
Gene and transcription
Genbank (Entrez)AB022083 AB022441 AK055284 AK225861 AK302162
RefSeq transcript (Entrez)NM_001308165 NM_007017 NM_178424
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SOX30
Cluster EST : UnigeneHs.744348 [ NCBI ]
CGAP (NCI)Hs.744348
Alternative Splicing GalleryENSG00000039600
Gene ExpressionSOX30 [ NCBI-GEO ]   SOX30 [ EBI - ARRAY_EXPRESS ]   SOX30 [ SEEK ]   SOX30 [ MEM ]
Gene Expression Viewer (FireBrowse)SOX30 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11063
GTEX Portal (Tissue expression)SOX30
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94993   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94993  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94993
Splice isoforms : SwissVarO94993
PhosPhoSitePlusO94993
Domaine pattern : Prosite (Expaxy)HMG_BOX_2 (PS50118)   
Domains : Interpro (EBI)HMG_box_dom   
Domain families : Pfam (Sanger)HMG_box (PF00505)   
Domain families : Pfam (NCBI)pfam00505   
Domain families : Smart (EMBL)HMG (SM00398)  
Conserved Domain (NCBI)SOX30
DMDM Disease mutations11063
Blocks (Seattle)SOX30
SuperfamilyO94993
Human Protein AtlasENSG00000039600
Peptide AtlasO94993
HPRD09461
IPIIPI00016680   IPI00220989   IPI00984966   
Protein Interaction databases
DIP (DOE-UCLA)O94993
IntAct (EBI)O94993
FunCoupENSG00000039600
BioGRIDSOX30
STRING (EMBL)SOX30
ZODIACSOX30
Ontologies - Pathways
QuickGOO94993
Ontology : AmiGOprotein binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  spermatogenesis  response to corticosteroid  sequence-specific DNA binding  
Ontology : EGO-EBIprotein binding  nucleus  transcription, DNA-templated  regulation of transcription, DNA-templated  spermatogenesis  response to corticosteroid  sequence-specific DNA binding  
NDEx NetworkSOX30
Atlas of Cancer Signalling NetworkSOX30
Wikipedia pathwaysSOX30
Orthology - Evolution
OrthoDB11063
GeneTree (enSembl)ENSG00000039600
Phylogenetic Trees/Animal Genes : TreeFamSOX30
HOVERGENO94993
HOGENOMO94993
Homologs : HomoloGeneSOX30
Homology/Alignments : Family Browser (UCSC)SOX30
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSOX30 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SOX30
dbVarSOX30
ClinVarSOX30
1000_GenomesSOX30 
Exome Variant ServerSOX30
ExAC (Exome Aggregation Consortium)SOX30 (select the gene name)
Genetic variants : HAPMAP11063
Genomic Variants (DGV)SOX30 [DGVbeta]
DECIPHERSOX30 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSOX30 
Mutations
ICGC Data PortalSOX30 
TCGA Data PortalSOX30 
Broad Tumor PortalSOX30
OASIS PortalSOX30 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSOX30  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSOX30
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 SOX30
DgiDB (Drug Gene Interaction Database)SOX30
DoCM (Curated mutations)SOX30 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SOX30 (select a term)
intoGenSOX30
Cancer3DSOX30(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606698   
Orphanet
MedgenSOX30
Genetic Testing Registry SOX30
NextProtO94993 [Medical]
TSGene11063
GENETestsSOX30
Target ValidationSOX30
Huge Navigator SOX30 [HugePedia]
snp3D : Map Gene to Disease11063
BioCentury BCIQSOX30
ClinGenSOX30
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11063
Chemical/Pharm GKB GenePA134876614
Clinical trialSOX30
Miscellaneous
canSAR (ICR)SOX30 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSOX30
EVEXSOX30
GoPubMedSOX30
iHOPSOX30
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:15:23 CEST 2017

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