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CHD7 (chromodomain helicase DNA binding protein 7)

Identity

Alias_namesCRG
CHARGE association
Alias_symbol (synonym)KIAA1416
FLJ20357
FLJ20361
HGNC (Hugo) CHD7
LocusID (NCBI) 55636
Atlas_Id 52981
Location 8q12.2  [Link to chromosome band 8q12]
Location_base_pair Starts at 61653818 and ends at 61780586 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CHD7 (8q12.2) / ASPH (8q12.3)CHD7 (8q12.2) / CCDC58 (3q21.1)CHD7 (8q12.2) / TACC1 (8p11.22)
CHD7 (8q12.2) / TOX (8q12.1)CHD7 (8q12.2) / WHSC1L1 (8p11.23)FAM222B (17q11.2) / CHD7 (8q12.2)
FOXO3 (6q21) / CHD7 (8q12.2)PVT1 (8q24.21) / CHD7 (8q12.2)RAB2A (8q12.1) / CHD7 (8q12.2)
TOX (8q12.1) / CHD7 (8q12.2)C17orf63 CHD7 8q12.1CHD7 8q12.1 / ASPH 8q12.3
CHD7 8q12.1 / CCDC58 3q21.1CHD7 8q12.1 / TACC1 8p11.22CHD7 8q12.1 / TOX 8q12.1
CHD7 8q12.1 / WHSC1L1 8p11.23FOXO3 6q21 / CHD7 8q12.1

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) [ 1 ]
  Lung: Translocations in Small Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)CHD7   20626
LRG (Locus Reference Genomic)LRG_176
Cards
Entrez_Gene (NCBI)CHD7  55636  chromodomain helicase DNA binding protein 7
AliasesCRG; HH5; IS3; KAL5
GeneCards (Weizmann)CHD7
Ensembl hg19 (Hinxton)ENSG00000171316 [Gene_View]  chr8:61653818-61780586 [Contig_View]  CHD7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000171316 [Gene_View]  chr8:61653818-61780586 [Contig_View]  CHD7 [Vega]
ICGC DataPortalENSG00000171316
TCGA cBioPortalCHD7
AceView (NCBI)CHD7
Genatlas (Paris)CHD7
WikiGenes55636
SOURCE (Princeton)CHD7
Genetics Home Reference (NIH)CHD7
Genomic and cartography
GoldenPath hg19 (UCSC)CHD7  -     chr8:61653818-61780586 +  8q12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CHD7  -     8q12.2   [Description]    (hg38-Dec_2013)
EnsemblCHD7 - 8q12.2 [CytoView hg19]  CHD7 - 8q12.2 [CytoView hg38]
Mapping of homologs : NCBICHD7 [Mapview hg19]  CHD7 [Mapview hg38]
OMIM189960   214800   608892   612370   
Gene and transcription
Genbank (Entrez)AB037837 AK000364 AK000368 AK123158 AK225354
RefSeq transcript (Entrez)NM_001316690 NM_017780
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_007009 NT_008183 NW_004929339
Consensus coding sequences : CCDS (NCBI)CHD7
Cluster EST : UnigeneHs.733236 [ NCBI ]
CGAP (NCI)Hs.733236
Alternative Splicing GalleryENSG00000171316
Gene ExpressionCHD7 [ NCBI-GEO ]   CHD7 [ EBI - ARRAY_EXPRESS ]   CHD7 [ SEEK ]   CHD7 [ MEM ]
Gene Expression Viewer (FireBrowse)CHD7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55636
GTEX Portal (Tissue expression)CHD7
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P2D1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P2D1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P2D1
Splice isoforms : SwissVarQ9P2D1
Catalytic activity : Enzyme3.6.4.12 [ Enzyme-Expasy ]   3.6.4.123.6.4.12 [ IntEnz-EBI ]   3.6.4.12 [ BRENDA ]   3.6.4.12 [ KEGG ]   
PhosPhoSitePlusQ9P2D1
Domaine pattern : Prosite (Expaxy)CHROMO_2 (PS50013)    HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)BRK_domain    Chromo/shadow_dom    Chromo_domain    Chromodomain-like    Helicase_ATP-bd    Helicase_C    P-loop_NTPase    SANT/Myb    SNF2_N   
Domain families : Pfam (Sanger)BRK (PF07533)    Chromo (PF00385)    Helicase_C (PF00271)    SNF2_N (PF00176)   
Domain families : Pfam (NCBI)pfam07533    pfam00385    pfam00271    pfam00176   
Domain families : Smart (EMBL)BRK (SM00592)  CHROMO (SM00298)  DEXDc (SM00487)  HELICc (SM00490)  SANT (SM00717)  
Conserved Domain (NCBI)CHD7
DMDM Disease mutations55636
Blocks (Seattle)CHD7
PDB (SRS)2CKC    2V0E    2V0F   
PDB (PDBSum)2CKC    2V0E    2V0F   
PDB (IMB)2CKC    2V0E    2V0F   
PDB (RSDB)2CKC    2V0E    2V0F   
Structural Biology KnowledgeBase2CKC    2V0E    2V0F   
SCOP (Structural Classification of Proteins)2CKC    2V0E    2V0F   
CATH (Classification of proteins structures)2CKC    2V0E    2V0F   
SuperfamilyQ9P2D1
Human Protein AtlasENSG00000171316
Peptide AtlasQ9P2D1
HPRD10595
IPIIPI00794880   IPI00472901   IPI00983150   IPI00954579   IPI00982953   IPI00982277   
Protein Interaction databases
DIP (DOE-UCLA)Q9P2D1
IntAct (EBI)Q9P2D1
FunCoupENSG00000171316
BioGRIDCHD7
STRING (EMBL)CHD7
ZODIACCHD7
Ontologies - Pathways
QuickGOQ9P2D1
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  skeletal system development  in utero embryonic development  heart morphogenesis  chromatin binding  helicase activity  protein binding  ATP binding  nucleus  nucleus  nucleolus  transcription, DNA-templated  regulation of transcription, DNA-templated  rRNA processing  central nervous system development  adult heart development  sensory perception of sound  adult walking behavior  blood circulation  chromatin modification  cranial nerve development  olfactory nerve development  olfactory bulb development  T cell differentiation  female genitalia development  embryonic hindlimb morphogenesis  positive regulation of multicellular organism growth  olfactory behavior  inner ear morphogenesis  nose development  semicircular canal morphogenesis  genitalia development  artery morphogenesis  regulation of neurogenesis  cognition  palate development  retina development in camera-type eye  regulation of growth hormone secretion  limb development  face development  epithelium development  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  skeletal system development  in utero embryonic development  heart morphogenesis  chromatin binding  helicase activity  protein binding  ATP binding  nucleus  nucleus  nucleolus  transcription, DNA-templated  regulation of transcription, DNA-templated  rRNA processing  central nervous system development  adult heart development  sensory perception of sound  adult walking behavior  blood circulation  chromatin modification  cranial nerve development  olfactory nerve development  olfactory bulb development  T cell differentiation  female genitalia development  embryonic hindlimb morphogenesis  positive regulation of multicellular organism growth  olfactory behavior  inner ear morphogenesis  nose development  semicircular canal morphogenesis  genitalia development  artery morphogenesis  regulation of neurogenesis  cognition  palate development  retina development in camera-type eye  regulation of growth hormone secretion  limb development  face development  epithelium development  
NDEx NetworkCHD7
Atlas of Cancer Signalling NetworkCHD7
Wikipedia pathwaysCHD7
Orthology - Evolution
OrthoDB55636
GeneTree (enSembl)ENSG00000171316
Phylogenetic Trees/Animal Genes : TreeFamCHD7
HOVERGENQ9P2D1
HOGENOMQ9P2D1
Homologs : HomoloGeneCHD7
Homology/Alignments : Family Browser (UCSC)CHD7
Gene fusions - Rearrangements
Fusion : MitelmanCHD7/ASPH [8q12.1/8q12.3]  
Fusion : MitelmanCHD7/CCDC58 [8q12.1/3q21.1]  [t(3;8)(q21;q12)]  
Fusion : MitelmanCHD7/TACC1 [8q12.1/8p11.22]  [t(8;8)(p11;q12)]  
Fusion : MitelmanCHD7/TOX [8q12.1/8q12.1]  [t(8;8)(q12;q12)]  
Fusion : MitelmanCHD7/WHSC1L1 [8q12.1/8p11.23]  [t(8;8)(p12;q12)]  
Fusion : MitelmanFAM222B/CHD7 [17q11.2/8q12.1]  [t(8;17)(q12;q11)]  
Fusion : MitelmanFOXO3/CHD7 [6q21/8q12.1]  [t(6;8)(q21;q12)]  
Fusion : MitelmanPVT1/CHD7 [8q24.21/8q12.1]  [t(8;8)(q12;q24)]  
Fusion: TCGAC17orf63 CHD7 8q12.1 LUAD
Fusion: TCGACHD7 8q12.1 ASPH 8q12.3 BRCA
Fusion: TCGACHD7 8q12.1 CCDC58 3q21.1 BRCA
Fusion: TCGACHD7 8q12.1 TACC1 8p11.22 BRCA
Fusion: TCGACHD7 8q12.1 TOX 8q12.1 GBM
Fusion: TCGACHD7 8q12.1 WHSC1L1 8p11.23 OV
Fusion: TCGAFOXO3 6q21 CHD7 8q12.1 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHD7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHD7
dbVarCHD7
ClinVarCHD7
1000_GenomesCHD7 
Exome Variant ServerCHD7
ExAC (Exome Aggregation Consortium)CHD7 (select the gene name)
Genetic variants : HAPMAP55636
Genomic Variants (DGV)CHD7 [DGVbeta]
DECIPHER (Syndromes)8:61653818-61780586  ENSG00000171316
CONAN: Copy Number AnalysisCHD7 
Mutations
ICGC Data PortalCHD7 
TCGA Data PortalCHD7 
Broad Tumor PortalCHD7
OASIS PortalCHD7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHD7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHD7
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
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch CHD7
DgiDB (Drug Gene Interaction Database)CHD7
DoCM (Curated mutations)CHD7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHD7 (select a term)
intoGenCHD7
Cancer3DCHD7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM189960    214800    608892    612370   
Orphanet110    3249    8668    10452   
MedgenCHD7
Genetic Testing Registry CHD7
NextProtQ9P2D1 [Medical]
TSGene55636
GENETestsCHD7
Huge Navigator CHD7 [HugePedia]
snp3D : Map Gene to Disease55636
BioCentury BCIQCHD7
ClinGenCHD7 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55636
Chemical/Pharm GKB GenePA134948695
Clinical trialCHD7
Miscellaneous
canSAR (ICR)CHD7 (select the gene name)
Probes
Litterature
PubMed91 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHD7
EVEXCHD7
GoPubMedCHD7
iHOPCHD7
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 Nov 18 19:33:52 CET 2016

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