![]()
Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 3-M syndrome | | ISS | RGD:1603688 | 13592920 | OMIM:273750 more ... | MouseDO | | |
|
![]()
Imported Disease Annotations - MGITerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | 3-M syndrome | | ISS | RGD:1603688 | 13592920 | OMIM:273750 more ... | MouseDO | | |
|
|
|
|
|
|
|
|
# | 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. | An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechanism regulates Golgi morphology and dendrite patterning. | Litterman N, etal., PLoS Biol. 2011 May;9(5):e1001060. doi: 10.1371/journal.pbio.1001060. Epub 2011 May 10. |
3. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation 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 |
Obsl1 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
OBSL1 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Obsl1 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Obsl1 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
OBSL1 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
OBSL1 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Obsl1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
OBSL1 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
OBSL1 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Obsl1 (Heterocephalus glaber - naked mole-rat) |
|
D9Wox10 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
D9Mco56 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
AA859818 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
ECD17211 |
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||
REN53413 |
|
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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. |
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 | 43 | 10 | 6 | 6 | 6 | 9 | 39 | 26 | 34 | 7 | 6 | ||
Low | 3 | 34 | 22 | 19 | 22 | 2 | 2 | 35 | 9 | 7 | 4 | 2 | |
Below cutoff | 13 | 13 | 13 |
RefSeq Transcripts | NM_001377020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_001062053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006226887 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006226888 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006226889 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006245304 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006245305 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006245306 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008758060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_008767309 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017596828 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039083894 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039083895 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_343599 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | JACYVU010000215 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000020673 ⟹ ENSRNOP00000020673 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000103263 ⟹ ENSRNOP00000084083 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSRNOT00000120120 ⟹ ENSRNOP00000093392 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_001377020 ⟹ NP_001363949 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_006245304 ⟹ XP_006245366 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006245305 ⟹ XP_006245367 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_006245306 ⟹ XP_006245368 | ||||||||||||||||
RefSeq Status: | |||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
|
||||||||||||||||
Sequence: |
RefSeq Acc Id: | XM_017596828 ⟹ XP_017452317 | ||||||||||||
RefSeq Status: | |||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_039083894 ⟹ XP_038939822 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_039083895 ⟹ XP_038939823 | ||||||||
RefSeq Status: | |||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_343599 ⟹ XP_343600 | ||||||||||||||||||||
RefSeq Status: | |||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
|
||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_001363949 | (Get FASTA) | NCBI Sequence Viewer |
XP_006245366 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006245367 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006245368 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017452317 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038939822 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038939823 | (Get FASTA) | NCBI Sequence Viewer | |
XP_343600 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | D3ZZ80 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | XP_343600 ⟸ XM_343599 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_006245366 ⟸ XM_006245304 |
- Peptide Label: | isoform X3 |
- Sequence: |
RefSeq Acc Id: | XP_006245367 ⟸ XM_006245305 |
- Peptide Label: | isoform X4 |
- UniProtKB: | D3ZZ80 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006245368 ⟸ XM_006245306 |
- Peptide Label: | isoform X5 |
- Sequence: |
RefSeq Acc Id: | XP_017452317 ⟸ XM_017596828 |
- Peptide Label: | isoform X2 |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000020673 ⟸ ENSRNOT00000020673 |
RefSeq Acc Id: | XP_038939823 ⟸ XM_039083895 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_038939822 ⟸ XM_039083894 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | NP_001363949 ⟸ NM_001377020 |
RefSeq Acc Id: | ENSRNOP00000093392 ⟸ ENSRNOT00000120120 |
RefSeq Acc Id: | ENSRNOP00000084083 ⟸ ENSRNOT00000103263 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-D3ZZ80-F1-model_v2 | AlphaFold | D3ZZ80 | 1-1805 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
||||||||||||||||||
|
Chromosome | Start Pos | End Pos | Reference Nucleotide | Variant Nucleotide | Variant Type | Strain |
9 | 82685314 | 82685315 | C | T | snv | LN/MavRrrcAek (2020), LL/MavRrrcAek (2020), SR/JrHsd (RGD), LL/MavRrrc (RGD), LN/MavRrrc (RGD), SR/JrHsd (MCW), SR/JrHsd (2020) |
9 | 82686566 | 82686567 | A | T | snv | BN-Lx/CubMcwi (2019) |
9 | 82691162 | 82691163 | C | T | snv | SR/JrHsd (2020), LN/MavRrrcAek (2020), LL/MavRrrcAek (2020), SR/JrHsd (RGD), LL/MavRrrc (RGD), LN/MavRrrc (RGD), SR/JrHsd (MCW) |
Chromosome | Start Pos | End Pos | Reference Nucleotide | Variant Nucleotide | Variant Type | Strain |
9 | 82453298 | 82453299 | G | A | snv | DOB/Oda (KyushuU) |
9 | 82454575 | 82454576 | C | T | snv | SR/JrHsd (KNAW), LN/MavRrrc (KNAW), LL/MavRrrc (KNAW), SR/JrHsd (MCW) |
9 | 82457284 | 82457285 | G | A | snv | IS/Kyo (KyushuU), IS-Tlk/Kyo (KyushuU) |
9 | 82460423 | 82460424 | C | T | snv | SR/JrHsd (KNAW), LN/MavRrrc (KNAW), LL/MavRrrc (KNAW), SR/JrHsd (MCW) |
Database | Acc Id | Source(s) |
AGR Gene | RGD:1306073 | AgrOrtholog |
BioCyc Gene | G2FUF-27061 | BioCyc |
Ensembl Genes | ENSRNOG00000015346 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Protein | ENSRNOP00000020673 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSRNOP00000084083 | ENTREZGENE | |
ENSRNOP00000084083.1 | UniProtKB/TrEMBL | |
ENSRNOP00000093392 | ENTREZGENE | |
ENSRNOP00000093392.1 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSRNOT00000020673 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSRNOT00000103263 | ENTREZGENE | |
ENSRNOT00000103263.1 | UniProtKB/TrEMBL | |
ENSRNOT00000120120 | ENTREZGENE | |
ENSRNOT00000120120.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.60.40.10 | UniProtKB/Swiss-Prot |
InterPro | FN3_dom | UniProtKB/Swiss-Prot |
FN3_sf | UniProtKB/Swiss-Prot | |
Ig-like_dom | UniProtKB/Swiss-Prot | |
Ig-like_dom_sf | UniProtKB/Swiss-Prot | |
Ig-like_fold | UniProtKB/Swiss-Prot | |
Ig_I-set | UniProtKB/Swiss-Prot | |
Ig_sub | UniProtKB/Swiss-Prot | |
Ig_sub2 | UniProtKB/Swiss-Prot | |
NCBI Gene | 363259 | ENTREZGENE |
Pfam | I-set | UniProtKB/Swiss-Prot |
PhenoGen | Obsl1 | PhenoGen |
PROSITE | FN3 | UniProtKB/Swiss-Prot |
IG_LIKE | UniProtKB/Swiss-Prot | |
SMART | IGc2 | UniProtKB/Swiss-Prot |
SM00409 | UniProtKB/Swiss-Prot | |
Superfamily-SCOP | SSF48726 | UniProtKB/Swiss-Prot |
SSF49265 | UniProtKB/Swiss-Prot | |
UniProt | A0A8I6AIN9_RAT | UniProtKB/TrEMBL |
A0A8I6GBF5_RAT | UniProtKB/TrEMBL | |
D3ZZ80 | ENTREZGENE, UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2019-09-03 | Obsl1 | obscurin like cytoskeletal adaptor 1 | Obsl1 | obscurin-like 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-03-07 | Obsl1 | obscurin-like 1 | RGD1306073_predicted | similar to sallimus CG1915-PC (predicted) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2005-01-20 | RGD1306073_predicted | similar to sallimus CG1915-PC (predicted) | LOC363259_predicted | Symbol and Name status set to approved | 1331353 | APPROVED | |
2005-01-12 | LOC363259_predicted | similar to sallimus CG1915-PC (predicted) | Symbol and Name status set to provisional | 70820 | PROVISIONAL |