Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SOHLH1 (spermatogenesis and oogenesis specific basic helix-loop-helix 1)

Identity

Alias (NCBI)C9orf157
NOHLH
ODG5
SPATA27
SPGF32
TEB2
bA100C15.3
bHLHe80
HGNC (Hugo) SOHLH1
HGNC Alias symbNOHLH
TEB2
bA100C15.3
bHLHe80
SPATA27
HGNC Alias namespermatogenesis associated 27
HGNC Previous nameC9orf157
HGNC Previous namechromosome 9 open reading frame 157
LocusID (NCBI) 402381
Atlas_Id 57908
Location 9q34.3  [Link to chromosome band 9q34]
Location_base_pair Starts at 135693409 and ends at 135699481 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)

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)SOHLH1   27845
Cards
Entrez_Gene (NCBI)SOHLH1    spermatogenesis and oogenesis specific basic helix-loop-helix 1
AliasesC9orf157; NOHLH; ODG5; SPATA27; 
SPGF32; TEB2; bA100C15.3; bHLHe80
GeneCards (Weizmann)SOHLH1
Ensembl hg19 (Hinxton)ENSG00000165643 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165643 [Gene_View]  ENSG00000165643 [Sequence]  chr9:135693409-135699481 [Contig_View]  SOHLH1 [Vega]
ICGC DataPortalENSG00000165643
TCGA cBioPortalSOHLH1
AceView (NCBI)SOHLH1
Genatlas (Paris)SOHLH1
SOURCE (Princeton)SOHLH1
Genetics Home Reference (NIH)SOHLH1
Genomic and cartography
GoldenPath hg38 (UCSC)SOHLH1  -     chr9:135693409-135699481 -  9q34.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SOHLH1  -     9q34.3   [Description]    (hg19-Feb_2009)
GoldenPathSOHLH1 - 9q34.3 [CytoView hg19]  SOHLH1 - 9q34.3 [CytoView hg38]
ImmunoBaseENSG00000165643
Genome Data Viewer NCBISOHLH1 [Mapview hg19]  
OMIM610224   617690   618115   
Gene and transcription
Genbank (Entrez)AY884306 AY902244 BC031861 DB307692 DB339952
RefSeq transcript (Entrez)NM_001012415 NM_001101677
Consensus coding sequences : CCDS (NCBI)SOHLH1
Gene ExpressionSOHLH1 [ NCBI-GEO ]   SOHLH1 [ EBI - ARRAY_EXPRESS ]   SOHLH1 [ SEEK ]   SOHLH1 [ MEM ]
Gene Expression Viewer (FireBrowse)SOHLH1 [ Firebrowse - Broad ]
GenevisibleExpression of SOHLH1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)402381
GTEX Portal (Tissue expression)SOHLH1
Human Protein AtlasENSG00000165643-SOHLH1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5JUK2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5JUK2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5JUK2
PhosPhoSitePlusQ5JUK2
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom    HLH_DNA-bd_sf    SOHLH1   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)SOHLH1
SuperfamilyQ5JUK2
AlphaFold pdb e-kbQ5JUK2   
Human Protein Atlas [tissue]ENSG00000165643-SOHLH1 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q5JUK2
IntAct (EBI)Q5JUK2
BioGRIDSOHLH1
STRING (EMBL)SOHLH1
ZODIACSOHLH1
Ontologies - Pathways
QuickGOQ5JUK2
Ontology : AmiGOchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  protein binding  nucleus  cytoplasm  regulation of transcription by RNA polymerase II  multicellular organism development  spermatogenesis  oocyte differentiation  cell differentiation  cell differentiation  protein homodimerization activity  protein heterodimerization activity  
Ontology : EGO-EBIchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  protein binding  nucleus  cytoplasm  regulation of transcription by RNA polymerase II  multicellular organism development  spermatogenesis  oocyte differentiation  cell differentiation  cell differentiation  protein homodimerization activity  protein heterodimerization activity  
NDEx NetworkSOHLH1
Atlas of Cancer Signalling NetworkSOHLH1
Wikipedia pathwaysSOHLH1
Orthology - Evolution
OrthoDB402381
GeneTree (enSembl)ENSG00000165643
Phylogenetic Trees/Animal Genes : TreeFamSOHLH1
Homologs : HomoloGeneSOHLH1
Homology/Alignments : Family Browser (UCSC)SOHLH1
Gene fusions - Rearrangements
Fusion : QuiverSOHLH1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSOHLH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SOHLH1
dbVarSOHLH1
ClinVarSOHLH1
MonarchSOHLH1
1000_GenomesSOHLH1 
Exome Variant ServerSOHLH1
GNOMAD BrowserENSG00000165643
Varsome BrowserSOHLH1
ACMGSOHLH1 variants
VarityQ5JUK2
Genomic Variants (DGV)SOHLH1 [DGVbeta]
DECIPHERSOHLH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSOHLH1 
Mutations
ICGC Data PortalSOHLH1 
TCGA Data PortalSOHLH1 
Broad Tumor PortalSOHLH1
OASIS PortalSOHLH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSOHLH1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSOHLH1
Mutations and Diseases : HGMDSOHLH1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSOHLH1
DgiDB (Drug Gene Interaction Database)SOHLH1
DoCM (Curated mutations)SOHLH1
CIViC (Clinical Interpretations of Variants in Cancer)SOHLH1
Cancer3DSOHLH1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610224    617690    618115   
Orphanet
DisGeNETSOHLH1
MedgenSOHLH1
Genetic Testing Registry SOHLH1
NextProtQ5JUK2 [Medical]
GENETestsSOHLH1
Target ValidationSOHLH1
Huge Navigator SOHLH1 [HugePedia]
ClinGenSOHLH1
Clinical trials, drugs, therapy
MyCancerGenomeSOHLH1
Protein Interactions : CTDSOHLH1
Pharm GKB GenePA134899168
PharosQ5JUK2
Clinical trialSOHLH1
Miscellaneous
canSAR (ICR)SOHLH1
HarmonizomeSOHLH1
DataMed IndexSOHLH1
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSOHLH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:32:36 CEST 2021

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