|
|
|
|
|
|
|
|
|
|
|
|
|
|
| # | Reference Title | Reference Citation |
| 1. | Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing high-performance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis. | Bilan F, etal., J Mol Diagn. 2012 Jan;14(1):46-55. doi: 10.1016/j.jmoldx.2011.08.003. Epub 2011 Oct 25. |
| 2. | Multiple mutations in mouse Chd7 provide models for CHARGE syndrome. | Bosman EA, etal., Hum Mol Genet. 2005 Nov 15;14(22):3463-76. Epub 2005 Oct 5. |
| 3. | Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome. | Cho HJ, etal., Gene. 2013 Apr 1;517(2):164-8. doi: 10.1016/j.gene.2013.01.010. Epub 2013 Jan 17. |
| 4. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 5. | CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment. | Ogier JM, etal., PLoS One. 2014 May 19;9(5):e97559. doi: 10.1371/journal.pone.0097559. eCollection 2014. |
| 6. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 7. | PID Annotation Import Pipeline | Pipeline to import Pathway Interaction Database annotations from NCI into RGD |
| 8. | GOA pipeline | RGD automated data pipeline |
| 9. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 10. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 11. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 12. | Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions. | Vuorela P, etal., Genet Med. 2007 Oct;9(10):690-4. |
| 13. | Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome. | Wessels K, etal., Eur J Med Genet. 2010 Sep-Oct;53(5):280-5. doi: 10.1016/j.ejmg.2010.07.002. Epub 2010 Jul 30. |
| 14. | CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome. | Wincent J, etal., Clin Genet. 2008 Jul;74(1):31-8. doi: 10.1111/j.1399-0004.2008.01014.x. Epub 2008 Apr 28. |
| PMID:8889548 | PMID:9556299 | PMID:10932191 | PMID:15300250 | PMID:15353999 | PMID:16155193 | PMID:17684005 | PMID:17937444 | PMID:19279158 | PMID:19855134 | PMID:20453063 | PMID:23012479 |
| PMID:23319608 | PMID:26102480 |
| Chd7 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CHD7 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chd7 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chd7 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CHD7 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CHD7 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chd7 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CHD7 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| CHD7 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chd7 (Heterocephalus glaber - naked mole-rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chd7 (Rattus rattus - black rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
.
Variants in Chd7
1157 total Variants
|
| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
||||||||
| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
| RH135218 |
|
||||||||||||||||||||||||||||||||||||||||
| AA998568 |
|
||||||||||||||||||||||||||||||||||||||||
| AI231343 |
|
|
alimentary part of gastrointestinal system
|
appendage
|
circulatory system
|
ectoderm
|
endocrine system
|
endoderm
|
exocrine system
|
hemolymphoid system
|
hepatobiliary system
|
integumental system
|
mesenchyme
|
mesoderm
|
musculoskeletal system
|
nervous system
|
renal system
|
reproductive system
|
respiratory system
|
sensory system
|
visual system
|
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 165 | 91 | 90 | 59 | 92 | 59 | 6 | 356 | 192 | 11 | 144 | 81 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001107906 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| XM_003749899 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006237848 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008775893 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039109764 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039109765 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | CH473984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| CK843800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000008901 ⟹ ENSRNOP00000008901 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000104102 ⟹ ENSRNOP00000093253 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001107906 ⟹ NP_001101376 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_006237848 ⟹ XP_006237910 | ||||||||||||||||||||
| Type: | CODING | ||||||||||||||||||||
| Position: |
|
||||||||||||||||||||
| Sequence: |
| RefSeq Acc Id: | XM_039109764 ⟹ XP_038965692 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_039109765 ⟹ XP_038965693 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| Protein RefSeqs | NP_001101376 | (Get FASTA) | NCBI Sequence Viewer |
| XP_006237910 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038965692 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038965693 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | EDM11649 | (Get FASTA) | NCBI Sequence Viewer |
| Ensembl Protein | ENSRNOP00000008901 | ||
| ENSRNOP00000008901.7 | |||
| ENSRNOP00000093253.1 |
| RefSeq Acc Id: | XP_006237910 ⟸ XM_006237848 |
| - Peptide Label: | isoform X2 |
| - UniProtKB: | D3ZAP7 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000008901 ⟸ ENSRNOT00000008901 |
| RefSeq Acc Id: | NP_001101376 ⟸ NM_001107906 |
| - UniProtKB: | D3ZAP7 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038965692 ⟸ XM_039109764 |
| - Peptide Label: | isoform X1 |
| - UniProtKB: | D3ZAP7 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_038965693 ⟸ XM_039109765 |
| - Peptide Label: | isoform X3 |
| Ensembl Acc Id: | ENSRNOP00000093253 ⟸ ENSRNOT00000104102 |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1311921 | AgrOrtholog |
| BioCyc Gene | G2FUF-42020 | BioCyc |
| Ensembl Genes | ENSRNOG00000006689 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000008901 | ENTREZGENE |
| ENSRNOT00000008901.9 | UniProtKB/TrEMBL | |
| ENSRNOT00000104102.2 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.40.50.40 | UniProtKB/TrEMBL |
| 3.40.5.120 | UniProtKB/TrEMBL | |
| 3.40.50.10810 | UniProtKB/TrEMBL | |
| 3.40.50.300 | UniProtKB/TrEMBL | |
| Homeodomain-like | UniProtKB/TrEMBL | |
| InterPro | BRK_domain | UniProtKB/TrEMBL |
| BRK_sf | UniProtKB/TrEMBL | |
| CHD | UniProtKB/TrEMBL | |
| Chromo_domain | UniProtKB/TrEMBL | |
| Chromodomain | UniProtKB/TrEMBL | |
| Chromodomain-like | UniProtKB/TrEMBL | |
| DEAD-like_N | UniProtKB/TrEMBL | |
| DNA/RNA_helicase_C | UniProtKB/TrEMBL | |
| HTH_CHD6-9 | UniProtKB/TrEMBL | |
| P-loop_NTPase | UniProtKB/TrEMBL | |
| SNF2-like_sf | UniProtKB/TrEMBL | |
| SNF2/RAD54-like_C | UniProtKB/TrEMBL | |
| SNF2_N | UniProtKB/TrEMBL | |
| NCBI Gene | 312974 | ENTREZGENE |
| PANTHER | CHROMODOMAIN-HELICASE-DNA-BINDING PROTEIN 9 | UniProtKB/TrEMBL |
| CHROMODOMAIN-HELICASE-DNA-BINDING PROTEIN 9 | UniProtKB/TrEMBL | |
| Pfam | BRK | UniProtKB/TrEMBL |
| Chromo | UniProtKB/TrEMBL | |
| Helicase_C | UniProtKB/TrEMBL | |
| HTH_CHD8_8th | UniProtKB/TrEMBL | |
| SNF2_N | UniProtKB/TrEMBL | |
| PhenoGen | Chd7 | PhenoGen |
| PROSITE | CHROMO_2 | UniProtKB/TrEMBL |
| HELICASE_ATP_BIND_1 | UniProtKB/TrEMBL | |
| HELICASE_CTER | UniProtKB/TrEMBL | |
| RatGTEx | ENSRNOG00000006689 | RatGTEx |
| SMART | BRK | UniProtKB/TrEMBL |
| CHROMO | UniProtKB/TrEMBL | |
| DEXDc | UniProtKB/TrEMBL | |
| HELICc | UniProtKB/TrEMBL | |
| Superfamily-SCOP | Chromodomain-like | UniProtKB/TrEMBL |
| SSF160481 | UniProtKB/TrEMBL | |
| SSF52540 | UniProtKB/TrEMBL | |
| UniProt | A0A8I6AJI8_RAT | UniProtKB/TrEMBL |
| D3ZAP7 | ENTREZGENE, UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2008-04-30 | Chd7 | chromodomain helicase DNA binding protein 7 | Chd7_predicted | chromodomain helicase DNA binding protein 7 (predicted) | 'predicted' is removed | 2292626 | APPROVED |
| 2005-01-12 | Chd7_predicted | chromodomain helicase DNA binding protein 7 (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |