Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | congenital myasthenic syndrome 10 | | ISO | DOK7 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | congenital myasthenic syndrome 10 | | ISO | DOK7 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | 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. |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | GOA pipeline | RGD automated data pipeline |
4. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
5. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
6. | Comprehensive gene review and curation | RGD comprehensive gene curation |
7. | The neuromuscular junction: selective remodeling of synaptic regulators at the nerve/muscle interface. | Witzemann V, etal., Mech Dev. 2013 Jun-Aug;130(6-8):402-11. doi: 10.1016/j.mod.2012.09.004. Epub 2012 Sep 29. |
Dok7 (Rattus norvegicus - Norway rat) |
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DOK7 (Homo sapiens - human) |
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Dok7 (Mus musculus - house mouse) |
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Dok7 (Chinchilla lanigera - long-tailed chinchilla) |
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DOK7 (Pan paniscus - bonobo/pygmy chimpanzee) |
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DOK7 (Canis lupus familiaris - dog) |
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DOK7 (Sus scrofa - pig) |
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DOK7 (Chlorocebus sabaeus - green monkey) |
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Dok7 (Heterocephalus glaber - naked mole-rat) |
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Variants in Dok7
168 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 |
RH131279 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 6 | 1 | 2 | 1 | |||||||||
Low | 37 | 7 | 9 | 58 | 6 | 18 | 9 | 7 | |||||
Below cutoff | 1 | 17 | 8 | 9 | 8 | 12 | 27 | 23 | 2 |
RefSeq Transcripts | NM_001130062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001414957 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017599205 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017599206 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039091972 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039091973 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063273153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC114393 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH473963 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FQ223777 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000035385 ⟹ ENSRNOP00000036262 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000098833 ⟹ ENSRNOP00000083030 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000118992 ⟹ ENSRNOP00000096459 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001130062 ⟹ NP_001123534 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001414957 ⟹ NP_001401886 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_017599205 ⟹ XP_017454694 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017599206 ⟹ XP_017454695 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039091972 ⟹ XP_038947900 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039091973 ⟹ XP_038947901 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063273153 ⟹ XP_063129223 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001123534 | (Get FASTA) | NCBI Sequence Viewer |
NP_001401886 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017454694 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017454695 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038947900 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038947901 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063129223 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDM00073 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSRNOP00000036262 | ||
ENSRNOP00000036262.4 | |||
ENSRNOP00000083030.1 | |||
ENSRNOP00000096459 | |||
ENSRNOP00000096459.1 |
RefSeq Acc Id: | NP_001123534 ⟸ NM_001130062 |
- Peptide Label: | isoform 1 |
- Sequence: |
RefSeq Acc Id: | XP_017454694 ⟸ XM_017599205 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_017454695 ⟸ XM_017599206 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000036262 ⟸ ENSRNOT00000035385 |
RefSeq Acc Id: | XP_038947901 ⟸ XM_039091973 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038947900 ⟸ XM_039091972 |
- Peptide Label: | isoform X2 |
- UniProtKB: | D3ZDW9 (UniProtKB/TrEMBL), A6IK09 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSRNOP00000096459 ⟸ ENSRNOT00000118992 |
RefSeq Acc Id: | ENSRNOP00000083030 ⟸ ENSRNOT00000098833 |
RefSeq Acc Id: | NP_001401886 ⟸ NM_001414957 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A0A8I6GLL7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_063129223 ⟸ XM_063273153 |
- Peptide Label: | isoform X5 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-D3ZDW9-F1-model_v2 | AlphaFold | D3ZDW9 | 1-569 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:1566416 | AgrOrtholog |
BioCyc Gene | G2FUF-15313 | BioCyc |
Ensembl Genes | ENSRNOG00000022419 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000035385.5 | UniProtKB/TrEMBL |
ENSRNOT00000098833.1 | UniProtKB/TrEMBL | |
ENSRNOT00000118992 | ENTREZGENE | |
ENSRNOT00000118992.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.30.29.30 | UniProtKB/TrEMBL |
InterPro | Dok-7 | UniProtKB/TrEMBL |
Dok-7_PH | UniProtKB/TrEMBL | |
Dok-7_PTB | UniProtKB/TrEMBL | |
Insln_rcpt_S1 | UniProtKB/TrEMBL | |
PH_domain | UniProtKB/TrEMBL | |
PH_like_dom | UniProtKB/TrEMBL | |
KEGG Report | rno:305448 | UniProtKB/TrEMBL |
NCBI Gene | 305448 | ENTREZGENE |
PANTHER | PROTEIN DOK-7 | UniProtKB/TrEMBL |
PTHR21636 | UniProtKB/TrEMBL | |
Pfam | IRS | UniProtKB/TrEMBL |
PhenoGen | Dok7 | PhenoGen |
PROSITE | IRS_PTB | UniProtKB/TrEMBL |
PH_DOMAIN | UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000022419 | RatGTEx |
SMART | IRS | UniProtKB/TrEMBL |
SM00233 | UniProtKB/TrEMBL | |
Superfamily-SCOP | PH domain-like | UniProtKB/TrEMBL |
UniProt | A0A8I5ZVQ6_RAT | UniProtKB/TrEMBL |
A0A8I6GLL7 | ENTREZGENE, UniProtKB/TrEMBL | |
A6IK09 | ENTREZGENE, UniProtKB/TrEMBL | |
D3ZDW9 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2008-03-07 | Dok7 | docking protein 7 | RGD1566416_predicted | similar to hypothetical protein A930013K19 (predicted) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-03-07 | RGD1566416_predicted | similar to hypothetical protein A930013K19 (predicted) | LOC305448 | similar to hypothetical protein A930013K19 | Symbol and Name status set to approved | 1299863 | APPROVED |
2006-02-09 | LOC305448 | similar to hypothetical protein A930013K19 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |