Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive nonsyndromic deafness 109 | | ISO | ESRP1 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autosomal recessive nonsyndromic deafness 109 | | ISO | ESRP1 (Homo sapiens) | 7240710 | | OMIM | | |
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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. | GOA pipeline | RGD automated data pipeline |
3. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:12477932 | PMID:19285943 | PMID:23825128 | PMID:26371508 | PMID:29107558 |
Esrp1 (Rattus norvegicus - Norway rat) |
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ESRP1 (Homo sapiens - human) |
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Esrp1 (Mus musculus - house mouse) |
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Esrp1 (Chinchilla lanigera - long-tailed chinchilla) |
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ESRP1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ESRP1 (Canis lupus familiaris - dog) |
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Esrp1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ESRP1 (Sus scrofa - pig) |
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ESRP1 (Chlorocebus sabaeus - green monkey) |
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Esrp1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Esrp1
352 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 |
RH129803 |
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RH132485 |
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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 | 3 | 20 | 18 | 11 | |||||||||
Low | 2 | 12 | 4 | 9 | 4 | 1 | 1 | 8 | 15 | 22 | 1 | ||
Below cutoff | 28 | 24 | 20 | 10 | 20 | 3 | 4 | 10 | 1 | 3 |
RefSeq Transcripts | NM_001127564 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_006237877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006237878 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006237880 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039110538 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039110539 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039110540 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063288190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063288191 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063288192 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063288193 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063288195 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063288196 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | BC166735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH473984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000010846 ⟹ ENSRNOP00000010846 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000067129 ⟹ ENSRNOP00000063046 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000110297 ⟹ ENSRNOP00000095508 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000110555 ⟹ ENSRNOP00000092072 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001127564 ⟹ NP_001121036 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006237877 ⟹ XP_006237939 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006237878 ⟹ XP_006237940 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_006237880 ⟹ XP_006237942 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039110538 ⟹ XP_038966466 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039110539 ⟹ XP_038966467 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039110540 ⟹ XP_038966468 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063288190 ⟹ XP_063144260 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063288191 ⟹ XP_063144261 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063288192 ⟹ XP_063144262 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063288193 ⟹ XP_063144263 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063288195 ⟹ XP_063144265 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063288196 ⟹ XP_063144266 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001121036 | (Get FASTA) | NCBI Sequence Viewer |
XP_006237939 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006237940 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006237942 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038966466 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038966467 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038966468 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063144260 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063144261 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063144262 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063144263 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063144265 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063144266 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAI66735 | (Get FASTA) | NCBI Sequence Viewer |
B2RYD2 | (Get FASTA) | NCBI Sequence Viewer | |
EDM11679 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000010846.6 | ||
ENSRNOP00000063046 | |||
ENSRNOP00000063046.2 | |||
ENSRNOP00000092072.1 | |||
ENSRNOP00000095508 | |||
ENSRNOP00000095508.1 |
RefSeq Acc Id: | NP_001121036 ⟸ NM_001127564 |
- UniProtKB: | B2RYD2 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006237939 ⟸ XM_006237877 |
- Peptide Label: | isoform X3 |
- UniProtKB: | B2RYD2 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | XP_006237942 ⟸ XM_006237880 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A8I6APB2 (UniProtKB/TrEMBL), A6JFT3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006237940 ⟸ XM_006237878 |
- Peptide Label: | isoform X4 |
- UniProtKB: | B2RYD2 (UniProtKB/Swiss-Prot), A0A8L2QVS8 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000063046 ⟸ ENSRNOT00000067129 |
RefSeq Acc Id: | ENSRNOP00000010846 ⟸ ENSRNOT00000010846 |
RefSeq Acc Id: | XP_038966466 ⟸ XM_039110538 |
- Peptide Label: | isoform X2 |
- UniProtKB: | B2RYD2 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | XP_038966467 ⟸ XM_039110539 |
- Peptide Label: | isoform X9 |
RefSeq Acc Id: | XP_038966468 ⟸ XM_039110540 |
- Peptide Label: | isoform X9 |
RefSeq Acc Id: | ENSRNOP00000095508 ⟸ ENSRNOT00000110297 |
RefSeq Acc Id: | ENSRNOP00000092072 ⟸ ENSRNOT00000110555 |
RefSeq Acc Id: | XP_063144262 ⟸ XM_063288192 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_063144263 ⟸ XM_063288193 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_063144265 ⟸ XM_063288195 |
- Peptide Label: | isoform X10 |
RefSeq Acc Id: | XP_063144266 ⟸ XM_063288196 |
- Peptide Label: | isoform X11 |
RefSeq Acc Id: | XP_063144260 ⟸ XM_063288190 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_063144261 ⟸ XM_063288191 |
- Peptide Label: | isoform X5 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-B2RYD2-F1-model_v2 | AlphaFold | B2RYD2 | 1-677 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13693564 | ||||||||
Promoter ID: | EPDNEW_R4089 | ||||||||
Type: | initiation region | ||||||||
Name: | Esrp1_1 | ||||||||
Description: | epithelial splicing regulatory protein 1 | ||||||||
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 | RGD:1560481 | AgrOrtholog |
BioCyc Gene | G2FUF-41947 | BioCyc |
Ensembl Genes | ENSRNOG00000008184 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000010846.7 | UniProtKB/TrEMBL |
ENSRNOT00000067129.5 | UniProtKB/TrEMBL | |
ENSRNOT00000110297 | ENTREZGENE | |
ENSRNOT00000110297.1 | UniProtKB/TrEMBL | |
ENSRNOT00000110555.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.30.420.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
3.30.70.330 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
IMAGE_CLONE | IMAGE:7936665 | IMAGE-MGC_LOAD |
InterPro | Nucleotide-bd_a/b_plait_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RBD_domain_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RNaseH-like_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RNaseH_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RRM_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:500409 | UniProtKB/Swiss-Prot |
MGC_CLONE | MGC:188460 | IMAGE-MGC_LOAD |
NCBI Gene | 500409 | ENTREZGENE |
PANTHER | AT27789P | UniProtKB/TrEMBL |
EPITHELIAL SPLICING REGULATORY PROTEIN 1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN-RELATED | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Esrp1 | PhenoGen |
PROSITE | RRM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000008184 | RatGTEx |
SMART | RRM | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Superfamily-SCOP | SSF53098 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF54928 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A8I6AFU1_RAT | UniProtKB/TrEMBL |
A0A8I6APB2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8L2QVS8 | ENTREZGENE, UniProtKB/TrEMBL | |
A6JFT3 | ENTREZGENE, UniProtKB/TrEMBL | |
B2RYD2 | ENTREZGENE, UniProtKB/Swiss-Prot | |
F1LP81_RAT | UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2008-04-30 | RGD1560481 | similar to hypothetical protein FLJ20171 | RGD1560481_predicted | similar to hypothetical protein FLJ20171 (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2006-03-07 | RGD1560481_predicted | similar to hypothetical protein FLJ20171 (predicted) | LOC500409 | similar to hypothetical protein FLJ20171 | Symbol and Name status set to approved | 1299863 | APPROVED |
2006-02-09 | LOC500409 | similar to hypothetical protein FLJ20171 | Symbol and Name status set to provisional | 70820 | PROVISIONAL |