This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015] See more...

Aliases for CHD7 Gene

Aliases for CHD7 Gene

  • Chromodomain Helicase DNA Binding Protein 7 2 3 5
  • Chromodomain-Helicase-DNA-Binding Protein 7 3 4
  • ATP-Dependent Helicase CHD7 3 4
  • CHARGE Association 2 3
  • Chromodomain Helicase DNA Binding Protein 7 Isoform CRA_e 3
  • EC 3.6.4.12 4
  • KIAA1416 4
  • EC 3.6.1 52
  • CHD-7 4
  • KAL5 3
  • HH5 3
  • IS3 3
  • CRG 3

External Ids for CHD7 Gene

Previous HGNC Symbols for CHD7 Gene

  • CRG

Previous GeneCards Identifiers for CHD7 Gene

  • GC00U900988
  • GC08P061642
  • GC08P061753
  • GC08P057078

Summaries for CHD7 Gene

Entrez Gene Summary for CHD7 Gene

  • This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

GeneCards Summary for CHD7 Gene

CHD7 (Chromodomain Helicase DNA Binding Protein 7) is a Protein Coding gene. Diseases associated with CHD7 include Charge Syndrome and Hypogonadotropic Hypogonadism 5 With Or Without Anosmia. Among its related pathways are Noncanonical Wnt signaling pathway and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include chromatin binding and helicase activity. An important paralog of this gene is CHD9.

UniProtKB/Swiss-Prot Summary for CHD7 Gene

  • Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production.

Gene Wiki entry for CHD7 Gene

Additional gene information for CHD7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CHD7 Gene

Genomics for CHD7 Gene

GeneHancer (GH) Regulatory Elements for CHD7 Gene

Promoters and enhancers for CHD7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J060677 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 505.4 +1.0 961 4.6 HNRNPK EP300 NRF1 POLR2G PHF8 TEAD4 ZIC2 POLR2A ZBTB10 CLOCK CHD7 RAB2A ENSG00000254432
GH08J060650 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas 15.3 -26.0 -26040 4.2 HNRNPK ZBTB40 ZNF217 EP300 SIN3A TCF12 NRF1 POLR2G SP1 PHF8 ENSG00000228862 CHD7 RAB2A NPM1P6 CLVS1 ENSG00000255321 CA8 lnc-CA8-11
GH08J060908 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.1 +234.5 234522 10.3 RXRA ZBTB40 SIN3A NRF1 MYC USF1 SP1 EP300 ZIC2 ZBTB26 CHD7 ENSG00000254432 CLVS1 RAB2A ENSG00000254777 LOC105375938 lnc-ASPH-6 ENSG00000255397
GH08J061023 Promoter/Enhancer 1.6 ENCODE CraniofacialAtlas dbSUPER 11.5 +345.4 345397 2 ZNF217 CTCF NRF1 USF1 ZIC2 ZNF423 ZBTB26 REST ZBTB25 ZNF740 lnc-CLVS1-4 CLVS1 CHD7 HSALNG0065668
GH08J060744 Enhancer 1 FANTOM5 Ensembl CraniofacialAtlas 15.9 +65.3 65261 4 NFIC POLR2A JUND NFIB RAD21 RXRA THRB SMARCA4 HNF4A AGO2 CHD7 CLVS1 ENSG00000254432
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CHD7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHD7

Top Transcription factor binding sites by QIAGEN in the CHD7 gene promoter:
  • AhR
  • AREB6
  • Arnt
  • FOXI1
  • HFH-3
  • Nkx2-5
  • Nkx3-1
  • STAT3
  • ZID

Genomic Locations for CHD7 Gene

Genomic Locations for CHD7 Gene
chr8:60,678,740-60,868,028
(GRCh38/hg38)
Size:
189,289 bases
Orientation:
Plus strand
chr8:61,591,324-61,780,587
(GRCh37/hg19)
Size:
189,264 bases
Orientation:
Plus strand

Genomic View for CHD7 Gene

Genes around CHD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHD7 Gene

Proteins for CHD7 Gene

  • Protein details for CHD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9P2D1-CHD7_HUMAN
    Recommended name:
    Chromodomain-helicase-DNA-binding protein 7
    Protein Accession:
    Q9P2D1
    Secondary Accessions:
    • D0VBA5
    • E9PNZ2
    • Q05DI5
    • Q2TAN4
    • Q66K35
    • Q7Z6C0
    • Q7Z7Q2
    • Q9NXA0
    • Q9NXA3

    Protein attributes for CHD7 Gene

    Size:
    2997 amino acids
    Molecular mass:
    335927 Da
    Quaternary structure:
    • May interact with CTCF (PubMed:17603073). Interacts with CHD8 (PubMed:20453063). Interacts with FAM124B (PubMed:23285124). Found in a complex composed of AGO2, CHD7 and FAM172A (By similarity).
    Miscellaneous:
    • [Isoform 2]: May be due to an intron retention.
    • [Isoform 3]: Ubiquitous, expression enriched in lung and large intestine.
    SequenceCaution:
    • Sequence=AAH14681.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH14681.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH53890.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH68000.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH80627.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH80627.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAI10819.1; Type=Miscellaneous discrepancy; Note=Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91113.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91116.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CHD7 Gene

    Alternative splice isoforms for CHD7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHD7 Gene

Selected DME Specific Peptides for CHD7 Gene

Q9P2D1:
  • VLIFSQMVR
  • INRLDNIC
  • PKQKRHRCRNPNKLD
  • PVPRGRKGK
  • GAEEKIL
  • ILKPMMLRRLK
  • IFDSDWNP
  • KASFVAS
  • KASLKLG
  • RRGRRKNVEG
  • MCRRVCR
  • DEMGLGKT
  • AVLQSMSG
  • EFSDLES
  • FCEEDIDQIL
  • TITIESEG
  • DFYRVVSTFG
  • DEAHRLK
  • TGTPLQN
  • ETIIEVELT
  • YRLITRNSYEREM
  • KDKRIQQKIKRFK
  • LDILEDY
  • ECFRVEKNLL
  • GHRVLIF
  • MGLGKTIQ
  • GIHGPFL
  • DSDWNPQ
  • QKKYYRAILE
  • QNLQNLQSLQ
  • RADPALCFLE
  • FNPDYVE
  • ITTFEMIL
  • SRRGRRPKS
  • MLRRLKEDV
  • AGGLGINL
  • RCHRIGQ
  • YLVKWCSLPYE
  • RVLIFSQM
  • RRTHTITI
  • WPKDRVMINRLD
  • PITEERASRTLYR
  • CNKVLLRVRMLY
  • DKLLPKL
  • NWEREFRTWT
  • LVIDTPRVRKQTR
  • LLIGVFK
  • NTMMELRKCCNHPYLI
  • EDPEYKP
  • LRQEVIG
  • TSKGEEK

Post-translational modifications for CHD7 Gene

  • Ubiquitination at Lys934
  • Modification sites at PhosphoSitePlus

Domains & Families for CHD7 Gene

Gene Families for CHD7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CHD7 Gene

Blocks:
  • Chromo domain
  • SNF2 related domain
  • ATP-dependent helicase, DEAH-box
  • Domain in transcription and CHROMO domain helicase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHD7 Gene

GenScript: Design optimal peptide antigens:
  • ATP-dependent helicase CHD7 (CHD7_HUMAN)
  • Chromodomain helicase DNA binding protein 7 isoform CRA_e (D0VBA5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9P2D1

UniProtKB/Swiss-Prot:

CHD7_HUMAN :
  • Belongs to the SNF2/RAD54 helicase family.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with CHD7: view

Function for CHD7 Gene

Molecular function for CHD7 Gene

UniProtKB/Swiss-Prot Function:
Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.12;.

Enzyme Numbers (IUBMB) for CHD7 Gene

Phenotypes From GWAS Catalog for CHD7 Gene

Gene Ontology (GO) - Molecular Function for CHD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003678 DNA helicase activity IEA --
GO:0003682 chromatin binding TAS 17299439
GO:0004386 helicase activity IEA --
genes like me logo Genes that share ontologies with CHD7: view
genes like me logo Genes that share phenotypes with CHD7: view

Human Phenotype Ontology for CHD7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CHD7 Gene

MGI Knock Outs for CHD7:
  • Chd7 Chd7<tm2a(EUCOMM)Wtsi>
  • Chd7 Chd7<tm1.2Dmm>

Animal Model Products

  • Taconic Biosciences Mouse Models for CHD7

Clone Products

  • Addgene plasmids for CHD7

No data available for Transcription Factor Targets and HOMER Transcription for CHD7 Gene

Localization for CHD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHD7 Gene

[Isoform 1]: Nucleus.
[Isoform 3]: Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHD7 gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
golgi apparatus 2
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,TAS 17299439
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA,IDA --
genes like me logo Genes that share ontologies with CHD7: view

Pathways & Interactions for CHD7 Gene

genes like me logo Genes that share pathways with CHD7: view

Pathways by source for CHD7 Gene

1 BioSystems pathway for CHD7 Gene
1 Cell Signaling Technology pathway for CHD7 Gene

Gene Ontology (GO) - Biological Process for CHD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IMP 16155193
GO:0001568 blood vessel development IEA --
GO:0001701 in utero embryonic development IMP 15300250
GO:0001974 blood vessel remodeling IEA --
GO:0003007 heart morphogenesis IMP 15300250
genes like me logo Genes that share ontologies with CHD7: view

No data available for SIGNOR curated interactions for CHD7 Gene

Drugs & Compounds for CHD7 Gene

(3) Drugs for CHD7 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(1) Additional Compounds for CHD7 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with CHD7: view

Transcripts for CHD7 Gene

mRNA/cDNA for CHD7 Gene

2 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for CHD7

Alternative Splicing Database (ASD) splice patterns (SP) for CHD7 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: -
SP2:
SP3:
SP4:

ExUns: 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34 ^ 35
SP1: -
SP2:
SP3: -
SP4:

Relevant External Links for CHD7 Gene

GeneLoc Exon Structure for
CHD7

Expression for CHD7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHD7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CHD7 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.9) and Brain - Cerebellum (x6.0).

Protein differential expression in normal tissues from HIPED for CHD7 Gene

This gene is overexpressed in Liver (42.2), NK cells (7.2), and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CHD7 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHD7

SOURCE GeneReport for Unigene cluster for CHD7 Gene:

Hs.20395

mRNA Expression by UniProt/SwissProt for CHD7 Gene:

Q9P2D1-CHD7_HUMAN
Tissue specificity: Widely expressed in fetal and adult tissues.

Evidence on tissue expression from TISSUES for CHD7 Gene

  • Nervous system(4.7)
  • Blood(4.4)
  • Eye(4.4)
  • Lung(4.3)
  • Skin(4.3)
  • Heart(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CHD7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • hypothalamus
  • inner ear
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • parathyroid
  • pharynx
  • pituitary gland
  • sinus
  • skull
  • thyroid
  • tooth
  • vocal cord
Thorax:
  • aorta
  • breast
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • testicle
  • ureter
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with CHD7: view

No data available for Protein tissue co-expression partners for CHD7 Gene

Orthologs for CHD7 Gene

This gene was present in the common ancestor of animals.

Orthologs for CHD7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHD7 31 30
  • 99.79 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHD7 31
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 93 (a)
OneToMany
-- 31
  • 80 (a)
OneToMany
-- 31
  • 63 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CHD7 31 30
  • 92.15 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Chd7 17 31 30
  • 89.89 (n)
rat
(Rattus norvegicus)
Mammalia Chd7 30
  • 89.22 (n)
cow
(Bos Taurus)
Mammalia CHD7 31 30
  • 86.21 (n)
OneToOne
chicken
(Gallus gallus)
Aves CHD7 31 30
  • 85.21 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHD7 31
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chd7 30
  • 78.1 (n)
Str.10097 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.16730 30
zebrafish
(Danio rerio)
Actinopterygii chd7 31 30
  • 70.77 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2609 30
fruit fly
(Drosophila melanogaster)
Insecta kis 31
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea chd-7 31
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 66 (a)
OneToMany
CSA.5026 31
  • 42 (a)
OneToMany
Species where no ortholog for CHD7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHD7 Gene

ENSEMBL:
Gene Tree for CHD7 (if available)
TreeFam:
Gene Tree for CHD7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CHD7: view image

Paralogs for CHD7 Gene

(4) SIMAP similar genes for CHD7 Gene using alignment to 5 proteins:

  • CHD7_HUMAN
  • E9PP20_HUMAN
  • H0YD01_HUMAN
  • H0YDC1_HUMAN
  • L8E8D7_HUMAN
genes like me logo Genes that share paralogs with CHD7: view

Variants for CHD7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHD7 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
619296 Pathogenic: CHARGE association 60,856,502(+) G/T NONSENSE,INTRON_VARIANT
638056 Uncertain Significance: CHARGE association 60,845,330(+) G/A MISSENSE_VARIANT,INTRON_VARIANT
638145 Likely Pathogenic: CHARGE association 60,823,933(+) T/C INTRON_VARIANT
638266 Uncertain Significance: CHARGE association 60,848,547(+) T/C MISSENSE_VARIANT,INTRON_VARIANT
639075 Uncertain Significance: CHARGE association 60,836,145(+) C/T MISSENSE_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CHD7 Gene

Structural Variations from Database of Genomic Variants (DGV) for CHD7 Gene

Variant ID Type Subtype PubMed ID
esv1009733 CNV insertion 20482838
esv2462449 CNV deletion 19546169
esv3302707 CNV tandem duplication 20981092
esv3361311 CNV insertion 20981092
esv3572785 CNV loss 25503493
esv3572788 CNV loss 25503493
esv3572789 CNV loss 25503493
esv3572790 CNV loss 25503493
nsv1075555 CNV deletion 25765185
nsv1122196 CNV deletion 24896259
nsv397201 CNV insertion 16902084
nsv477374 CNV novel sequence insertion 20440878
nsv526196 CNV gain 19592680
nsv6219 CNV deletion 18451855
nsv824657 CNV loss 20364138
nsv824658 CNV gain 20364138
nsv824659 CNV gain 20364138
nsv831335 CNV loss 17160897
nsv951438 CNV deletion 24416366

Variation tolerance for CHD7 Gene

Residual Variation Intolerance Score: 1.43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.77; 66.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CHD7 Gene

Human Gene Mutation Database (HGMD)
CHD7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHD7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHD7 Gene

Disorders for CHD7 Gene

MalaCards: The human disease database

(59) MalaCards diseases for CHD7 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CHD7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHD7_HUMAN
  • CHARGE syndrome (CHARGES) [MIM:214800]: Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. {ECO:0000269 PubMed:15300250, ECO:0000269 PubMed:16400610, ECO:0000269 PubMed:16763960, ECO:0000269 PubMed:18074359, ECO:0000269 PubMed:18445044, ECO:0000269 PubMed:19021638, ECO:0000269 PubMed:20453063, ECO:0000269 PubMed:21158681, ECO:0000269 PubMed:21554267, ECO:0000269 PubMed:21931733, ECO:0000269 PubMed:22461308, ECO:0000269 PubMed:22462537, ECO:0000269 PubMed:25818041}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Idiopathic scoliosis 3 (IS3) [MIM:608765]: An abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees. {ECO:0000269 PubMed:17436250}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Hypogonadotropic hypogonadism 5 with or without anosmia (HH5) [MIM:612370]: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269 PubMed:18834967, ECO:0000269 PubMed:21158681, ECO:0000269 PubMed:25077900}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CHD7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for CHD7 Gene

Publications for CHD7 Gene

  1. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. (PMID: 20186815) Zentner GE … Scacheri PC (American journal of medical genetics. Part A 2010) 3 23 41 54
  2. CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. (PMID: 19021638) Jongmans MC … Hoefsloot LH (Clinical genetics 2009) 3 4 41 54
  3. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (PMID: 18834967) Kim HG … Layman LC (American journal of human genetics 2008) 2 3 4 54
  4. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. (PMID: 18445044) Wincent J … Schoumans J (Clinical genetics 2008) 3 4 23 54
  5. CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. (PMID: 17436250) Gao X … Wise C (American journal of human genetics 2007) 3 4 41 54

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