Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | BPTF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Autism | ClinVar | PMID:25741868 | Developmental Disabilities | | ISO | BPTF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 and PMID:28942966 | genetic disease | | ISO | BPTF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | intellectual disability | | ISO | BPTF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 and PMID:28942966 | Kaposi's sarcoma | | ISO | BPTF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Kaposi sarcoma | ClinVar | PMID:28492532 | microcephaly | | ISO | BPTF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Microcephaly | ClinVar | PMID:25741868 | neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | | ISO | BPTF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies | ClinVar | PMID:25741868 more ... | Neurodevelopmental Disorders | | ISO | BPTF (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar | | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Imported Disease Annotations - CTD
Imported Disease Annotations - MGI
Imported Disease Annotations - OMIM
Gene-Chemical Interaction Annotations Click to see Annotation Detail View
Gene Ontology Annotations Click to see Annotation Detail View
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Molecular Function
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Mammalian Phenotype
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Molecular Function
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Phenotype Annotations
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Mammalian Phenotype
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References
References - curated
| # | Reference Title | Reference Citation |
| 1. | Expression of FAC1 in activated microglia during Alzheimer's disease. | Bowser R and Reilly S, Neurosci Lett. 1998 Sep 11;253(3):163-6. |
| 2. | Mouse brain organization revealed through direct genome-scale TF expression analysis. | Gray PA, etal., Science 2004 Dec 24;306(5705):2255-7. |
| 3. | ATP-dependent chromatin remodeling: genetics, genomics and mechanisms. | Hargreaves DC and Crabtree GR, Cell Res. 2011 Mar;21(3):396-420. doi: 10.1038/cr.2011.32. Epub 2011 Mar 1. |
| 4. | MGDs mouse GO annotations | MGD data from the GO Consortium |
| 5. | FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord. | Mu X, etal., Exp Neurol. 1997 Jul;146(1):17-24. |
| 6. | 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. |
| 7. | Readout of epigenetic modifications. | Patel DJ and Wang Z, Annu Rev Biochem. 2013;82:81-118. doi: 10.1146/annurev-biochem-072711-165700. |
| 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. | The bromodomain: From epigenome reader to druggable target. | Sanchez R, etal., Biochim Biophys Acta. 2014 Aug;1839(8):676-685. doi: 10.1016/j.bbagrm.2014.03.011. Epub 2014 Mar 28. |
| 12. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
Additional References at PubMed
| PMID:8889548 | PMID:10349636 | PMID:10512203 | PMID:10725249 | PMID:10922068 | PMID:11042159 | PMID:11076861 | PMID:11217851 | PMID:11752298 | PMID:12040188 | PMID:12520002 | PMID:12904583 |
| PMID:14609955 | PMID:14610273 | PMID:14681479 | PMID:14691545 | PMID:15741177 | PMID:15840001 | PMID:16141072 | PMID:16141073 | PMID:16602821 | PMID:16728976 | PMID:17015433 | PMID:18287559 |
| PMID:18794365 | PMID:18799693 | PMID:18973680 | PMID:18974875 | PMID:19233709 | PMID:20362541 | PMID:20412781 | PMID:21267068 | PMID:21289071 | PMID:21873635 | PMID:22083510 | PMID:22922362 |
| PMID:23395962 | PMID:23892456 | PMID:25131634 | PMID:25348714 | PMID:25417106 | PMID:26206133 | PMID:26440048 | PMID:26584622 | PMID:27651309 | PMID:27799308 | PMID:28106071 | PMID:28319097 |
| PMID:28579392 | PMID:29456179 | PMID:30186101 | PMID:30224759 | PMID:31065107 | PMID:32451433 | PMID:34321999 | PMID:35604347 |
Genomics
Comparative Map Data
| Bptf (Mus musculus - house mouse) |
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| BPTF (Homo sapiens - human) |
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| Bptf (Rattus norvegicus - Norway rat) |
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| Bptf (Chinchilla lanigera - long-tailed chinchilla) |
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| BPTF (Pan paniscus - bonobo/pygmy chimpanzee) |
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| BPTF (Canis lupus familiaris - dog) |
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| Bptf (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| BPTF (Sus scrofa - pig) |
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| BPTF (Chlorocebus sabaeus - green monkey) |
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| Bptf (Heterocephalus glaber - naked mole-rat) |
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Variants
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Variants in Bptf
3310 total Variants 
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