CHCHD1 Gene
protein-coding GIFtS: 45
GCID: GC10P075541
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coiled-coil-helix-coiled-coil-helix domain containing 1(Previous name: chromosome 10 open reading frame 34 )
(Previous symbol: C10orf34)
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Aliases
for CHCHD1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 11 2 | | Chromosome 10 Open Reading Frame 341 | | C10orf341 2 3 | | C23602 | | Nuclear Protein C23602 3 | | Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 12 | | FLJ258541 | | |
Export aliases for CHCHD1 gene to outside databasesPrevious GC identifers: GC10P074887 GC10P075211 GC10P069537 |
Summaries
for CHCHD1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for CHCHD1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_030059.13
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CHCHD1 gene promoter:
E2F-4 E2F-3a E2F-5 E2F-2 NF-kappaB E2F E2F-1 USF-1 COMP1 NF-kappaB1
Other transcription factors
Search SABiosciences Chromatin IP Primers for CHCHD1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHCHD1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10q22.2 Ensembl cytogenetic band: 10q22.2 HGNC cytogenetic band: 10q22.3CHCHD1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P075541: view genomic region
(about GC identifiers)
Start:
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75,541,805 bp from pter |
End:
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75,543,410 bp from pter |
Size:
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1,606 bases |
Orientation:
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plus strand |
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Proteins
for CHCHD1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CHCH1_HUMAN, Q96BP2 (See
protein sequence)Recommended Name: Coiled-coil-helix-coiled-coil-helix domain-containing protein 1 Size: 118 amino acids; 13475 Da
Subcellular location: NucleusExplore the universe of human proteins at neXtProt for CHCHD1: NX_Q96BP2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q96BP2
CHCHD1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_976043.1
ENSEMBL proteins: ENSP00000361928 ENSP00000361923
Human Recombinant Protein Products for CHCHD1:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
CHCHD1 for ontologies About GeneDecksing
CHCHD1 Antibody Products:
Assay Products for CHCHD1: |
Protein
Domains /
Families
for CHCHD1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CHCHD1 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q96BP2ProtoNet protein and cluster: Q96BP2 UniProtKB/Swiss-Prot: CHCH1_HUMAN, Q96BP2Similarity: Contains 1 CHCH domain |
Function
for CHCHD1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005515 | protein binding |
IPI | -- |
CHCHD1 for ontologies About GeneDecksing
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHCHD1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHCHD1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CHCHD1 (NM_203298) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHCHD1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHCHD1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHCHD1 |
|
Pathways & Interactions
for CHCHD1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHCHD1
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
5/231 Interacting proteins for CHCHD1 (Q96BP21, 2, 3 ENSP000003619234) via UniProtKB, MINT, STRING, and/or I2D (see all 231)About this table
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Drugs & Compounds
for CHCHD1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for CHCHD1
Search CenterWatch for drugs/clinical trials and news about CHCHD1 / CHCH1
|
Transcripts
for CHCHD1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CHCHD1 gene: NM_203298.2 Unigene Cluster for CHCHD1: Coiled-coil-helix-coiled-coil-helix domain containing 1 Hs.181174 [show with all ESTs]Unigene Representative Sequence: BM9248282 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000372837(uc001jvb.2) ENST00000372833(uc001jvc.4)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHCHD1 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHCHD1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: CHCHD1 (NM_203298) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHCHD1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHCHD1 |
Additional cDNA sequence: AK098720.1 BC015387.1 BC020852.1 4 DOTS entries: DT.453339 DT.101970431 DT.40124886 DT.100782586 24/77 AceView cDNA sequences (see all 77): AI354326 CK905781 AA628654 BM129025 CR603253 BF061723 BM980667 BM790198 AI827814 AA306748 BU678119 NM_203298 BC015387 AI992290 CD105257 AI202556 BQ129967 BF028260 BM782799 AA743064 AA312262 BI768835 AW188368 AA878982
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for CHCHD1 About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 |
|---|
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| SP1: | | | | | | | |
| SP2: | | | | | | |
ECgene alternative splicing isoforms for CHCHD1
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Expression
for CHCHD1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CHCHD1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCTCTTTGG
About this image
See CHCHD1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHCHD1
SOURCE GeneReport for Unigene cluster: Hs.181174
SABiosciences Custom PCR Arrays for CHCHD1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHCHD1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CHCHD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHCHD1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHCHD1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHCHD1 |
Orthologs
for CHCHD1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for CHCHD1 gene from 5/13 species (see all 13) About this table
ENSEMBL Gene Tree for CHCHD1 (if available)
TreeFam Gene Tree for CHCHD1 (if available) |
Paralogs
for CHCHD1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CHCHD1 gene
CHCHD1 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for CHCHD1
PGOHUM00000237280
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Genomic Variants
for CHCHD1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 10 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CHCHD1 (75541805 - 75543410 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CHCHD1: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHCHD1 |
|
Disorders
/ Diseases
for CHCHD1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
 CHCHD1 for disorders About MalaCards
CHCHD1 for disorders About GeneDecksing
OMIM gene information: 608842
OMIM disorders: --
Human Genome Epidemiology (HuGE) Navigator: CHCHD1 (2 documents)
Export disorders for CHCHD1 gene to outside databases
|
Publications
for CHCHD1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CHCHD1 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with CHCHD1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- C2360, a nuclear protein expressed in human proliferative cytotrophoblasts, is a representative member of a novel protein family with a conserved coiled coil-helix-coiled coil-helix domain. (PubMed id 15177562)1, 2, 9 Westerman B.A.... Oudejans C.B.M. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (2010)
- Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
- Sequence variants in four candidate genes (NIPSNAP1, GBAS, CHCHD1 and METT11D1) in patients with combined oxidative phosphorylation system deficiencies. (PubMed id 19169841)1 Smits P....van den Heuvel L.P. (2009)
- Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
- Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)
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External Searches for CHCHD1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing CHCHD1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CHCHD1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CHCHD1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CHCHD1 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for CHCHD1 gene:
Search GeneIP for patents involving CHCHD1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CHCHD1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for CHCHD1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CHCHD1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CHCHD1 | | | OriGene Protein Over-expression Lysate for CHCHD1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for CHCHD1 | | OriGene 3'-UTR Clone for CHCHD1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CHCHD1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CHCHD1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for CHCHD1 | | OriGene Custom Protein Services for CHCHD1 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CHCHD1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CHCHD1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHCHD1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHCHD1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHCHD1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHCHD1 |
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 |  |  |  | |
| | | | Search Tocris compounds for CHCHD1 |
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 | | | CHCHD1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHCHD1 |
|  |  |  |  | | | | Search ThermoFisher Antibodies for CHCHD1 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHCHD1 |
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