Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autism spectrum disorder | | ISO | FKBP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar | PMID:21658581 more ... | autistic disorder | | ISO | FKBP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:21681106 and PMID:30208311 | genetic disease | | ISO | FKBP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | intestinal volvulus | | ISO | FKBP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: INTESTINAL MALROTATION and FAMILIAL | ClinVar | PMID:25741868 | male infertility | | ISO | FKBP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Male infertility | ClinVar | PMID:25741868 and PMID:36150389 | Neurodevelopmental Disorders | | ISO | FKBP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25741868 | pleomorphic xanthoastrocytoma | | ISO | FKBP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma | ClinVar | PMID:28299358 | schizophrenia | | ISO | FKBP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Schizophrenia | ClinVar | PMID:21681106 and PMID:30208311 | Spermatogenic Failure 77 | | ISO | FKBP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Spermatogenic failure 77 | ClinVar | PMID:25741868 and PMID:36150389 | Volvulus Of Midgut | | ISO | FKBP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Volvulus of midgut | ClinVar | PMID:25741868 | Williams-Beuren syndrome | | ISO | FKBP6 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Williams syndrome | ClinVar | PMID:25741868 | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
 |
Welcome {{ username}}
Message Center
{{ messageCount }} Messages
Watched Genes
{{$index + 1}}. {{ watchedObject.symbol }} (RGD ID:{{watchedObject.rgdId}})
Watched Ontology Terms
{{gene.symbol}}: {{ gene.description }}
|
| You must be logged in to use this feature |
| {{ loginError }} |
|
|
Analyze GeneStrainQTL List |
 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 - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
Biological Process
Cellular Component
Molecular Function
Phenotype Annotations Click to see Annotation Detail View
Mammalian Phenotype
Disease Annotations
Click to see Annotation Detail View
|
|
|
Gene-Chemical Interaction Annotations
Click to see Annotation Detail View
|
|
|
Gene Ontology Annotations
Click to see Annotation Detail View
Biological Process
|
|
|
Cellular Component
|
|
Molecular Function
|
|
Phenotype Annotations
Click to see Annotation Detail View
Mammalian Phenotype
|
|
|
References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Essential role of Fkbp6 in male fertility and homologous chromosome pairing in meiosis. | Crackower MA, etal., Science. 2003 May 23;300(5623):1291-5. |
| 2. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
| 3. | Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. | Ko MS, etal., Development 2000 Apr;127(8):1737-49. |
| 4. | A novel human gene FKBP6 is deleted in Williams syndrome. | Meng X, etal., Genomics. 1998 Sep 1;52(2):130-7. |
| 5. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 6. | MGD IEA | MGD IEA |
| 7. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
| 8. | Mouse MP Annotation Import Pipeline | RGD automated import 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. | Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s). | Valero MC, etal., Genomics 2000 Oct 1;69(1):1-13. |
Additional References at PubMed
| PMID:7493967 | PMID:10349636 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11779826 | PMID:12477932 | PMID:16141072 | PMID:16141073 | PMID:18057311 | PMID:18408354 | PMID:21677750 |
| PMID:21873635 | PMID:22902560 | PMID:24194600 | PMID:25027326 | PMID:26025256 | PMID:27165042 | PMID:28378742 | PMID:32325033 |
Genomics
Comparative Map Data
| Fkbp6 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| FKBP6 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fkbp6 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fkbp6 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| FKBP6 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| FKBP6 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fkbp6 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| FKBP6 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| FKBP6 (Chlorocebus sabaeus - green monkey) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fkbp6 (Heterocephalus glaber - naked mole-rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Variants
.
Variants in Fkbp6
2035 total Variants 
|
