ESRP1 (epithelial splicing regulatory protein 1) - Rat Genome Database

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Gene: ESRP1 (epithelial splicing regulatory protein 1) Homo sapiens
Analyze
Symbol: ESRP1
Name: epithelial splicing regulatory protein 1
RGD ID: 1606552
HGNC Page HGNC
Description: Exhibits mRNA binding activity. Involved in regulation of RNA splicing. Localizes to nuclear body. Implicated in autosomal recessive nonsyndromic deafness 109.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DFNB109; FLJ20171; RBM35A; RMB35A; RNA binding motif protein 35A; RNA-binding motif protein 35A; RNA-binding protein 35A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100421250  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl894,641,074 - 94,707,466 (+)EnsemblGRCh38hg38GRCh38
GRCh38894,640,999 - 94,707,466 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37895,653,402 - 95,719,694 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36895,722,576 - 95,788,870 (+)NCBINCBI36hg18NCBI36
Celera891,839,462 - 91,906,238 (+)NCBI
Cytogenetic Map8q22.1NCBI
HuRef890,861,953 - 90,928,360 (+)NCBIHuRef
CHM1_1895,693,809 - 95,760,084 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nuclear body  (IDA)
nucleoplasm  (IBA,IDA,TAS)
nucleus  (IDA,IEA)
ribonucleoprotein complex  (IBA)

Molecular Function
mRNA binding  (IBA,IDA)
protein binding  (IPI)
RNA binding  (IBA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11329013   PMID:12477932   PMID:14702039   PMID:15489334   PMID:17145811   PMID:18029348   PMID:19177006   PMID:19285943   PMID:19829082   PMID:20711167   PMID:21873635   PMID:21876675  
PMID:22037216   PMID:22354987   PMID:22585092   PMID:22961986   PMID:23299472   PMID:23403292   PMID:23825128   PMID:24077287   PMID:24457600   PMID:25143390   PMID:25416956   PMID:26522352  
PMID:26522722   PMID:26646320   PMID:27045022   PMID:27108394   PMID:27119231   PMID:27401076   PMID:27500490   PMID:27650542   PMID:27911856   PMID:28052020   PMID:28431233   PMID:28514442  
PMID:28975893   PMID:29074849   PMID:29130517   PMID:29131012   PMID:29431637   PMID:29509190   PMID:29803834   PMID:29873154   PMID:30021884   PMID:31362365   PMID:31586073   PMID:31963158  
PMID:32056547   PMID:32296183   PMID:32641707   PMID:32814053   PMID:32964032   PMID:33339518   PMID:33455017  


Genomics

Comparative Map Data
ESRP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl894,641,074 - 94,707,466 (+)EnsemblGRCh38hg38GRCh38
GRCh38894,640,999 - 94,707,466 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37895,653,402 - 95,719,694 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36895,722,576 - 95,788,870 (+)NCBINCBI36hg18NCBI36
Celera891,839,462 - 91,906,238 (+)NCBI
Cytogenetic Map8q22.1NCBI
HuRef890,861,953 - 90,928,360 (+)NCBIHuRef
CHM1_1895,693,809 - 95,760,084 (+)NCBICHM1_1
Esrp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39411,331,933 - 11,386,783 (-)NCBIGRCm39mm39
GRCm39 Ensembl411,331,933 - 11,386,783 (-)Ensembl
GRCm38411,331,933 - 11,386,783 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl411,331,933 - 11,386,783 (-)EnsemblGRCm38mm10GRCm38
MGSCv37411,259,185 - 11,313,930 (-)NCBIGRCm37mm9NCBIm37
MGSCv36411,259,080 - 11,311,520 (-)NCBImm8
Celera411,143,181 - 11,197,808 (-)NCBICelera
Cytogenetic Map4A1NCBI
Esrp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2524,427,611 - 24,482,157 (-)NCBI
Rnor_6.0 Ensembl524,576,991 - 24,631,698 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0524,576,988 - 24,631,758 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0529,302,577 - 29,357,299 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4525,175,774 - 25,229,179 (-)NCBIRGSC3.4rn4RGSC3.4
Celera523,646,895 - 23,700,274 (-)NCBICelera
Cytogenetic Map5q13NCBI
Esrp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541710,813,593 - 10,882,921 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541710,813,831 - 10,881,238 (+)NCBIChiLan1.0ChiLan1.0
ESRP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1893,202,915 - 93,532,172 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl893,203,198 - 93,530,653 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0891,261,488 - 91,327,990 (+)NCBIMhudiblu_PPA_v0panPan3
ESRP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12939,322,516 - 39,388,363 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2939,333,117 - 39,387,337 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2939,494,996 - 39,550,483 (+)NCBI
ROS_Cfam_1.02939,537,035 - 39,592,713 (+)NCBI
UMICH_Zoey_3.12939,549,474 - 39,604,869 (+)NCBI
UNSW_CanFamBas_1.02939,545,306 - 39,600,742 (+)NCBI
UU_Cfam_GSD_1.02939,986,649 - 40,042,146 (+)NCBI
Esrp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530340,101,052 - 40,159,615 (-)NCBI
SpeTri2.0NW_0049365447,633,266 - 7,690,624 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ESRP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl441,993,944 - 42,061,236 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1441,993,944 - 42,061,706 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2445,307,127 - 45,373,900 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ESRP1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1889,609,723 - 89,679,035 (+)NCBI
ChlSab1.1 Ensembl889,608,014 - 89,679,037 (+)Ensembl
Vero_WHO_p1.0NW_02366603951,157,747 - 51,229,326 (-)NCBI
Esrp1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247631,998,560 - 2,073,854 (+)NCBI

Position Markers
RH11853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,687,065 - 95,687,231UniSTSGRCh37
Build 36895,756,241 - 95,756,407RGDNCBI36
Celera891,873,147 - 91,873,313RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,895,710 - 90,895,876UniSTS
GeneMap99-GB4 RH Map8436.52UniSTS
NCBI RH Map81026.6UniSTS
RH99323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,719,306 - 95,719,459UniSTSGRCh37
Build 36895,788,482 - 95,788,635RGDNCBI36
Celera891,905,850 - 91,906,003RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,927,972 - 90,928,125UniSTS
GeneMap99-GB4 RH Map8438.39UniSTS
SHGC-82785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,706,880 - 95,707,216UniSTSGRCh37
Build 36895,776,056 - 95,776,392RGDNCBI36
Celera891,893,436 - 91,893,772RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,915,559 - 90,915,895UniSTS
TNG Radiation Hybrid Map846085.0UniSTS
RH103541  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,718,293 - 95,718,456UniSTSGRCh37
Build 36895,787,469 - 95,787,632RGDNCBI36
Celera891,904,837 - 91,905,000RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,926,959 - 90,927,122UniSTS
GeneMap99-GB4 RH Map8438.8UniSTS
RH119314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,689,593 - 95,689,938UniSTSGRCh37
Build 36895,758,769 - 95,759,114RGDNCBI36
Celera891,875,675 - 91,876,020RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,898,270 - 90,898,615UniSTS
TNG Radiation Hybrid Map846081.0UniSTS
G17260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37895,701,462 - 95,701,592UniSTSGRCh37
Build 36895,770,638 - 95,770,768RGDNCBI36
Celera891,888,019 - 91,888,148RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,910,141 - 90,910,271UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3255
Count of miRNA genes:652
Interacting mature miRNAs:735
Transcripts:ENST00000358397, ENST00000423620, ENST00000433389, ENST00000454170, ENST00000517556, ENST00000517610, ENST00000519505, ENST00000520385, ENST00000522756, ENST00000522920, ENST00000523347
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

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 sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 825 1 971 189 114 34 1553 15 257 141 583 1266 167 3 702 4
Low 337 142 139 93 162 89 647 87 787 167 519 287 6 51 566 1 1
Below cutoff 1184 2459 515 275 1170 275 1835 1862 2418 40 322 45 1030 1287 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001034915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC108860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI990751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP005660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC052574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG182742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG212336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358397   ⟹   ENSP00000351168
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,641,174 - 94,707,466 (+)Ensembl
RefSeq Acc Id: ENST00000423620   ⟹   ENSP00000407349
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,641,074 - 94,707,466 (+)Ensembl
RefSeq Acc Id: ENST00000433389   ⟹   ENSP00000405738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,641,174 - 94,707,466 (+)Ensembl
RefSeq Acc Id: ENST00000454170   ⟹   ENSP00000402766
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,641,204 - 94,707,466 (+)Ensembl
RefSeq Acc Id: ENST00000517556
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,665,157 - 94,668,365 (+)Ensembl
RefSeq Acc Id: ENST00000517610   ⟹   ENSP00000429125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,646,216 - 94,706,515 (+)Ensembl
RefSeq Acc Id: ENST00000519505   ⟹   ENSP00000430118
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,646,197 - 94,707,466 (+)Ensembl
RefSeq Acc Id: ENST00000520385
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,641,612 - 94,662,333 (+)Ensembl
RefSeq Acc Id: ENST00000522756   ⟹   ENSP00000428490
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,646,173 - 94,665,198 (+)Ensembl
RefSeq Acc Id: ENST00000522920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,643,300 - 94,646,452 (+)Ensembl
RefSeq Acc Id: ENST00000523347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,705,654 - 94,707,466 (+)Ensembl
RefSeq Acc Id: ENST00000646773   ⟹   ENSP00000494213
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl894,641,199 - 94,707,258 (+)Ensembl
RefSeq Acc Id: NM_001034915   ⟹   NP_001030087
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,641,174 - 94,707,466 (+)NCBI
GRCh37895,653,364 - 95,719,694 (+)NCBI
Build 36895,722,576 - 95,788,870 (+)NCBI Archive
Celera891,839,462 - 91,906,238 (+)RGD
HuRef890,861,953 - 90,928,360 (+)RGD
CHM1_1895,693,809 - 95,760,084 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001122825   ⟹   NP_001116297
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,641,174 - 94,707,466 (+)NCBI
GRCh37895,653,364 - 95,719,694 (+)NCBI
Celera891,839,462 - 91,906,238 (+)RGD
HuRef890,861,953 - 90,928,360 (+)RGD
CHM1_1895,693,809 - 95,760,084 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001122826   ⟹   NP_001116298
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,641,174 - 94,707,466 (+)NCBI
GRCh37895,653,364 - 95,719,694 (+)RGD
Celera891,839,462 - 91,906,238 (+)RGD
HuRef890,861,953 - 90,928,360 (+)RGD
CHM1_1895,693,809 - 95,760,084 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001122827   ⟹   NP_001116299
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,641,174 - 94,707,466 (+)NCBI
GRCh37895,653,364 - 95,719,694 (+)RGD
Celera891,839,462 - 91,906,238 (+)RGD
HuRef890,861,953 - 90,928,360 (+)RGD
CHM1_1895,693,809 - 95,760,084 (+)NCBI
Sequence:
RefSeq Acc Id: NM_017697   ⟹   NP_060167
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,641,174 - 94,707,466 (+)NCBI
GRCh37895,653,364 - 95,719,694 (+)RGD
GRCh37895,653,364 - 95,719,694 (+)NCBI
Build 36895,722,598 - 95,787,844 (+)NCBI Archive
Celera891,839,462 - 91,906,238 (+)RGD
HuRef890,861,953 - 90,928,360 (+)RGD
CHM1_1895,693,809 - 95,760,084 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005250991   ⟹   XP_005251048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,640,999 - 94,707,466 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005250992   ⟹   XP_005251049
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,640,999 - 94,707,466 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_060167   ⟸   NM_017697
- Peptide Label: isoform 1
- UniProtKB: Q6NXG1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001116297   ⟸   NM_001122825
- Peptide Label: isoform 4
- UniProtKB: Q6NXG1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001030087   ⟸   NM_001034915
- Peptide Label: isoform 2
- UniProtKB: Q6NXG1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001116298   ⟸   NM_001122826
- Peptide Label: isoform 3
- UniProtKB: Q6NXG1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001116299   ⟸   NM_001122827
- Peptide Label: isoform 5
- UniProtKB: Q6NXG1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251048   ⟸   XM_005250991
- Peptide Label: isoform X1
- UniProtKB: Q6NXG1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251049   ⟸   XM_005250992
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000407349   ⟸   ENST00000423620
RefSeq Acc Id: ENSP00000429125   ⟸   ENST00000517610
RefSeq Acc Id: ENSP00000430118   ⟸   ENST00000519505
RefSeq Acc Id: ENSP00000402766   ⟸   ENST00000454170
RefSeq Acc Id: ENSP00000428490   ⟸   ENST00000522756
RefSeq Acc Id: ENSP00000405738   ⟸   ENST00000433389
RefSeq Acc Id: ENSP00000494213   ⟸   ENST00000646773
RefSeq Acc Id: ENSP00000351168   ⟸   ENST00000358397
Protein Domains
RRM

Promoters
RGD ID:7213793
Promoter ID:EPDNEW_H12642
Type:initiation region
Name:ESRP1_2
Description:epithelial splicing regulatory protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12643  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,640,503 - 94,640,563EPDNEW
RGD ID:7213797
Promoter ID:EPDNEW_H12643
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/)
Alternative Promoters:null; see alsoEPDNEW_H12642  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38894,641,174 - 94,641,234EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_017697.4(ESRP1):c.775C>G (p.Leu259Val) single nucleotide variant Deafness, autosomal recessive 109 [RCV000656491] Chr8:94664946 [GRCh38]
Chr8:95677174 [GRCh37]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1(chr8:94283890-94959597)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053675]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053675]|See cases [RCV000053675] Chr8:94283890..94959597 [GRCh38]
Chr8:95296118..95971825 [GRCh37]
Chr8:95365294..96041001 [NCBI36]
Chr8:8q22.1
benign
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1 copy number loss See cases [RCV000054265] Chr8:92283179..95786443 [GRCh38]
Chr8:93295407..96798671 [GRCh37]
Chr8:93364583..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1 copy number loss See cases [RCV000054277] Chr8:92287062..95786443 [GRCh38]
Chr8:93299290..96798671 [GRCh37]
Chr8:93368466..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 copy number loss See cases [RCV000054278] Chr8:92755532..97792132 [GRCh38]
Chr8:93767760..98804360 [GRCh37]
Chr8:93836936..98873536 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1 copy number loss See cases [RCV000136519] Chr8:93038175..95667782 [GRCh38]
Chr8:94050403..96680010 [GRCh37]
Chr8:94119579..96749186 [NCBI36]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
NM_017697.4(ESRP1):c.665_683del (p.Asp222fs) deletion Deafness, autosomal recessive 109 [RCV000656490] Chr8:94664716..94664734 [GRCh38]
Chr8:95676944..95676962 [GRCh37]
Chr8:8q22.1
pathogenic
GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1 copy number loss See cases [RCV000512300] Chr8:93391781..96572606 [GRCh37]
Chr8:8q22.1
likely pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1(chr8:95716165-95727130)x1 copy number loss not provided [RCV000747717] Chr8:95716165..95727130 [GRCh37]
Chr8:8q22.1
benign
GRCh37/hg19 8q22.1(chr8:95719327-95727130)x1 copy number loss not provided [RCV000747718] Chr8:95719327..95727130 [GRCh37]
Chr8:8q22.1
benign
NM_017697.4(ESRP1):c.1212C>T (p.Ser404=) single nucleotide variant not provided [RCV000963363] Chr8:94668229 [GRCh38]
Chr8:95680457 [GRCh37]
Chr8:8q22.1
benign
NM_017697.4(ESRP1):c.387A>G (p.Leu129=) single nucleotide variant not provided [RCV000967096] Chr8:94646179 [GRCh38]
Chr8:95658407 [GRCh37]
Chr8:8q22.1
benign
NM_017697.4(ESRP1):c.133-10A>G single nucleotide variant not provided [RCV000959030] Chr8:94641946 [GRCh38]
Chr8:95654174 [GRCh37]
Chr8:8q22.1
benign
NM_017697.4(ESRP1):c.589+10G>T single nucleotide variant not provided [RCV000959031] Chr8:94662380 [GRCh38]
Chr8:95674608 [GRCh37]
Chr8:8q22.1
benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_017697.4(ESRP1):c.475G>A (p.Ala159Thr) single nucleotide variant not provided [RCV000963225] Chr8:94646267 [GRCh38]
Chr8:95658495 [GRCh37]
Chr8:8q22.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25966 AgrOrtholog
COSMIC ESRP1 COSMIC
Ensembl Genes ENSG00000104413 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000351168 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000402766 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000405738 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000407349 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428490 UniProtKB/TrEMBL
  ENSP00000429125 UniProtKB/TrEMBL
  ENSP00000430118 UniProtKB/TrEMBL
  ENSP00000494213 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000358397 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000423620 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000433389 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000454170 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000517610 UniProtKB/TrEMBL
  ENST00000519505 UniProtKB/TrEMBL
  ENST00000522756 UniProtKB/TrEMBL
  ENST00000646773 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.420.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104413 GTEx
HGNC ID HGNC:25966 ENTREZGENE
Human Proteome Map ESRP1 Human Proteome Map
InterPro ESRP1_RRM1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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 hsa:54845 UniProtKB/Swiss-Prot
NCBI Gene 54845 ENTREZGENE
OMIM 612959 OMIM
  618013 OMIM
PharmGKB PA164719324 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53098 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2U3TZN9_HUMAN UniProtKB/TrEMBL
  E5RI26_HUMAN UniProtKB/TrEMBL
  ESRP1_HUMAN UniProtKB/Swiss-Prot
  H0YBB3_HUMAN UniProtKB/TrEMBL
  H0YBR2_HUMAN UniProtKB/TrEMBL
  Q6NXG1 ENTREZGENE
UniProt Secondary A6NHA8 UniProtKB/Swiss-Prot
  A8MPX1 UniProtKB/Swiss-Prot
  E9PB47 UniProtKB/Swiss-Prot
  Q2M2B0 UniProtKB/Swiss-Prot
  Q499G3 UniProtKB/Swiss-Prot
  Q6PJ86 UniProtKB/Swiss-Prot
  Q9NXL8 UniProtKB/Swiss-Prot