CHD7 (chromodomain helicase DNA binding protein 7)

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Gene: CHD7 (chromodomain helicase DNA binding protein 7) Homo sapiens

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Symbol:

CHD7

Name:

chromodomain helicase DNA binding protein 7

RGD ID:

1323630

HGNC Page

HGNC

Description:

Predicted to enable chromatin binding activity. Involved in several processes, including animal organ development; nervous system development; and regulation of growth hormone secretion. Located in nucleolus and nucleoplasm. Implicated in CHARGE syndrome; hypogonadotropic hypogonadism 5 with or without anosmia; and idiopathic scoliosis.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

ATP-dependent helicase CHD7; CHARGE association; CHD-7; chromodomain helicase DNA binding protein 7 isoform CRA_e; chromodomain-helicase-DNA-binding protein 7; CRG; FLJ20357; FLJ20361; HH5; IS3; KAL5; KIAA1416

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	8	60,678,740 - 60,868,028 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	8	60,678,740 - 60,868,028 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	8	61,591,299 - 61,780,587 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	61,753,893 - 61,942,019 (+)	NCBI	NCBI36		hg18	NCBI36
Celera	8	57,580,946 - 57,769,196 (+)	NCBI
Cytogenetic Map	8	q12.2	NCBI
HuRef	8	57,078,404 - 57,267,234 (+)	NCBI		HuRef
CHM1_1	8	61,643,239 - 61,832,394 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - PID (archival)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - PID (archival)