Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | heart disease | | ISO | BSN (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16844662 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | heart disease | | ISO | BSN (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:16844662 | |
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# | Reference Title | Reference Citation |
1. | Functional inactivation of a fraction of excitatory synapses in mice deficient for the active zone protein bassoon. | Altrock WD, etal., Neuron 2003 Mar 6;37(5):787-800. |
2. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
3. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
4. | MGDs mouse GO annotations | MGD data from the GO Consortium |
5. | MGD IEA | MGD IEA |
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. | Fv2 encodes a truncated form of the Stk receptor tyrosine kinase. | Persons DA, etal., Nat Genet 1999 Oct;23(2):159-65. |
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. | Bassoon, a novel zinc-finger CAG/glutamine-repeat protein selectively localized at the active zone of presynaptic nerve terminals. | tom Dieck S, etal., J Cell Biol 1998 Jul 27;142(2):499-509. |
PMID:8889548 | PMID:10349636 | PMID:10862698 | PMID:10900017 | PMID:11042159 | PMID:11076861 | PMID:12115694 | PMID:12477932 | PMID:12628168 | PMID:14610273 | PMID:14621295 | PMID:14622577 |
PMID:15226823 | PMID:15572359 | PMID:15728193 | PMID:15829963 | PMID:15911881 | PMID:15935055 | PMID:15978582 | PMID:16141072 | PMID:16141073 | PMID:16452087 | PMID:16452088 | PMID:16452644 |
PMID:16602821 | PMID:16672052 | PMID:17114649 | PMID:17652465 | PMID:17869247 | PMID:17967808 | PMID:17970721 | PMID:18095322 | PMID:18353676 | PMID:18641643 | PMID:18799693 | PMID:18952919 |
PMID:19000899 | PMID:19029045 | PMID:19081073 | PMID:19453636 | PMID:19812333 | PMID:19837175 | PMID:19966281 | PMID:20074705 | PMID:20188438 | PMID:20332206 | PMID:20421286 | PMID:20519533 |
PMID:20624980 | PMID:21092860 | PMID:21092861 | PMID:21144999 | PMID:21228161 | PMID:21267068 | PMID:21356198 | PMID:21677750 | PMID:21873635 | PMID:21935677 | PMID:21935939 | PMID:21940441 |
PMID:22357843 | PMID:22412021 | PMID:22457515 | PMID:22764252 | PMID:22794259 | PMID:22884324 | PMID:22933801 | PMID:23217150 | PMID:23295987 | PMID:23403927 | PMID:23467361 | PMID:23516560 |
PMID:23791195 | PMID:23926259 | PMID:24442635 | PMID:24442636 | PMID:24554721 | PMID:24616664 | PMID:24698275 | PMID:24858730 | PMID:25228773 | PMID:25461618 | PMID:25652077 | PMID:25709106 |
PMID:25915474 | PMID:26793095 | PMID:27321892 | PMID:28231469 | PMID:28386022 | PMID:28634551 | PMID:28671696 | PMID:29518331 | PMID:29915867 | PMID:30562941 | PMID:31011226 | PMID:31493975 |
PMID:31787876 | PMID:32071204 | PMID:32325033 | PMID:32364493 | PMID:32554809 | PMID:32651614 | PMID:32718208 | PMID:33230847 | PMID:33378226 | PMID:33601422 | PMID:33811381 | PMID:34320240 |
PMID:34321999 | PMID:34360710 | PMID:34474245 | PMID:34867184 | PMID:35179492 | PMID:35766170 | PMID:36417873 | PMID:37269288 | PMID:37532091 |
Bsn (Mus musculus - house mouse) |
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BSN (Homo sapiens - human) |
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Bsn (Rattus norvegicus - Norway rat) |
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Bsn (Chinchilla lanigera - long-tailed chinchilla) |
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BSN (Pan paniscus - bonobo/pygmy chimpanzee) |
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BSN (Canis lupus familiaris - dog) |
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Bsn (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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BSN (Sus scrofa - pig) |
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BSN (Chlorocebus sabaeus - green monkey) |
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Bsn (Heterocephalus glaber - naked mole-rat) |
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Variants in Bsn
2138 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 |
25.mHAa8b1.seq |
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D9Dcr107 |
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D9Dcr108 |
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RefSeq Transcripts | NM_007567 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006511634 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC137678 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC168217 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AI836567 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK010775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK129141 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK135719 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK160649 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC119581 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BY742476 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466560 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Y17034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Y17035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Y17036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Y17037 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
Y17038 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSMUST00000035208 ⟹ ENSMUSP00000035208 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSMUST00000124763 ⟹ ENSMUSP00000139053 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_007567 ⟹ NP_031593 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006511634 ⟹ XP_006511697 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_031593 | (Get FASTA) | NCBI Sequence Viewer |
XP_006511697 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | BAC97951 | (Get FASTA) | NCBI Sequence Viewer |
BAE22627 | (Get FASTA) | NCBI Sequence Viewer | |
BAE35940 | (Get FASTA) | NCBI Sequence Viewer | |
CAA76598 | (Get FASTA) | NCBI Sequence Viewer | |
EDL21270 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000035208 | ||
ENSMUSP00000035208.7 | |||
ENSMUSP00000139053.2 | |||
GenBank Protein | O88737 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_031593 ⟸ NM_007567 |
- UniProtKB: | E9QMZ3 (UniProtKB/Swiss-Prot), Q6ZQB5 (UniProtKB/Swiss-Prot), O88737 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006511697 ⟸ XM_006511634 |
- Peptide Label: | isoform X1 |
- UniProtKB: | E9QMZ3 (UniProtKB/Swiss-Prot), Q6ZQB5 (UniProtKB/Swiss-Prot), O88737 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSMUSP00000139053 ⟸ ENSMUST00000124763 |
RefSeq Acc Id: | ENSMUSP00000035208 ⟸ ENSMUST00000035208 |
RGD ID: | 6844256 | ||||||||
Promoter ID: | MM_KWN:58778 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_0Hour, BoneMarrow_2Hour, BoneMarrow_4Hour, Brain | ||||||||
Transcripts: | OTTMUST00000041007 | ||||||||
Position: |
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RGD ID: | 6844255 | ||||||||
Promoter ID: | MM_KWN:58781 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain | ||||||||
Transcripts: | OTTMUST00000041006 | ||||||||
Position: |
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RGD ID: | 8670866 | ||||||||
Promoter ID: | EPDNEW_M13464 | ||||||||
Type: | initiation region | ||||||||
Name: | Bsn_1 | ||||||||
Description: | Mus musculus bassoon , mRNA. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1277955 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000032589 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000035208 | ENTREZGENE |
ENSMUST00000035208.14 | UniProtKB/Swiss-Prot | |
ENSMUST00000124763.2 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.30.40.10 | UniProtKB/Swiss-Prot |
InterPro | Bsn | UniProtKB/Swiss-Prot |
Znf_FYVE_PHD | UniProtKB/Swiss-Prot | |
Znf_piccolo | UniProtKB/Swiss-Prot | |
Znf_RING/FYVE/PHD | UniProtKB/Swiss-Prot | |
KEGG Report | mmu:12217 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
MGD | MGI:1277955 | ENTREZGENE |
NCBI Gene | 12217 | ENTREZGENE |
PANTHER | PICCOLO/BASSOON | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR14113:SF1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | zf-piccolo | UniProtKB/Swiss-Prot |
PhenoGen | Bsn | PhenoGen |
Superfamily-SCOP | SSF57903 | UniProtKB/Swiss-Prot |
UniProt | BSN_MOUSE | UniProtKB/Swiss-Prot |
E9QMZ3 | ENTREZGENE | |
O88737 | ENTREZGENE | |
Q3TUN1_MOUSE | UniProtKB/TrEMBL | |
Q3UXD6_MOUSE | UniProtKB/TrEMBL | |
Q6ZQB5 | ENTREZGENE | |
V9GX98_MOUSE | UniProtKB/TrEMBL | |
UniProt Secondary | E9QMZ3 | UniProtKB/Swiss-Prot |
Q6ZQB5 | UniProtKB/Swiss-Prot |