EFR3A (EFR3 homolog A) - Rat Genome Database

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Gene: EFR3A (EFR3 homolog A) Homo sapiens
Analyze
Symbol: EFR3A
Name: EFR3 homolog A
RGD ID: 1604382
HGNC Page HGNC
Description: Involved in protein localization to plasma membrane. Localizes to cytosol and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp781J0562; KIAA0143; protein EFR3 homolog A; protein EFR3-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8131,904,093 - 132,013,642 (+)EnsemblGRCh38hg38GRCh38
GRCh388131,904,093 - 132,013,642 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378132,916,340 - 133,025,889 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368132,985,541 - 133,094,956 (+)NCBINCBI36hg18NCBI36
Celera8129,092,075 - 129,201,496 (+)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8128,233,937 - 128,343,448 (+)NCBIHuRef
CHM1_18132,956,736 - 133,066,224 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (IDA)
plasma membrane  (IBA,IDA)

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8590280   PMID:12477932   PMID:15363888   PMID:15489334   PMID:19322201   PMID:21873635   PMID:22082156   PMID:23229899   PMID:23374588   PMID:23376485   PMID:24457600   PMID:24860643  
PMID:25380825   PMID:25468996   PMID:26186194   PMID:26496610   PMID:26571211   PMID:27880917   PMID:28514442   PMID:29507755   PMID:29509190   PMID:30033366   PMID:30194290   PMID:30196744  
PMID:30639242   PMID:31527615   PMID:31586073   PMID:31678930   PMID:32780723  


Genomics

Comparative Map Data
EFR3A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8131,904,093 - 132,013,642 (+)EnsemblGRCh38hg38GRCh38
GRCh388131,904,093 - 132,013,642 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378132,916,340 - 133,025,889 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368132,985,541 - 133,094,956 (+)NCBINCBI36hg18NCBI36
Celera8129,092,075 - 129,201,496 (+)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8128,233,937 - 128,343,448 (+)NCBIHuRef
CHM1_18132,956,736 - 133,066,224 (+)NCBICHM1_1
Efr3a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391565,658,852 - 65,745,661 (+)NCBIGRCm39mm39
GRCm39 Ensembl1565,658,883 - 65,745,665 (+)Ensembl
GRCm381565,787,020 - 65,873,812 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1565,787,034 - 65,873,816 (+)EnsemblGRCm38mm10GRCm38
MGSCv371565,618,603 - 65,705,374 (+)NCBIGRCm37mm9NCBIm37
MGSCv361565,616,714 - 65,703,485 (+)NCBImm8
Celera1567,294,721 - 67,381,478 (+)NCBICelera
Cytogenetic Map15D1NCBI
Efr3a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2797,552,677 - 97,633,369 (+)NCBI
Rnor_6.0 Ensembl7106,535,434 - 106,616,805 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07106,535,428 - 106,616,805 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07106,483,576 - 106,564,947 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47103,147,405 - 103,228,104 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17103,181,640 - 103,262,319 (+)NCBI
Celera794,107,584 - 94,188,271 (+)NCBICelera
Cytogenetic Map7q33NCBI
Efr3a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554616,588,026 - 6,687,499 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554616,588,178 - 6,687,499 (+)NCBIChiLan1.0ChiLan1.0
EFR3A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18131,530,743 - 131,639,642 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8131,530,751 - 131,639,637 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08128,553,529 - 128,662,782 (+)NCBIMhudiblu_PPA_v0panPan3
EFR3A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11328,571,080 - 28,676,379 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1328,570,957 - 28,674,138 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1328,543,776 - 28,649,207 (+)NCBI
ROS_Cfam_1.01328,925,212 - 29,030,960 (+)NCBI
UMICH_Zoey_3.11328,652,608 - 28,758,118 (+)NCBI
UNSW_CanFamBas_1.01328,752,177 - 28,857,760 (+)NCBI
UU_Cfam_GSD_1.01329,064,268 - 29,169,740 (+)NCBI
Efr3a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053039,679,583 - 9,770,042 (-)NCBI
SpeTri2.0NW_00493647017,105,682 - 17,196,399 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EFR3A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl49,053,089 - 9,137,244 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.149,053,439 - 9,137,289 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
EFR3A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18126,355,535 - 126,458,427 (+)NCBI
ChlSab1.1 Ensembl8126,355,476 - 126,458,501 (+)Ensembl
Efr3a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473523,875,299 - 23,964,030 (-)NCBI

Position Markers
SHGC-36664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,011,804 - 133,011,882UniSTSGRCh37
Build 368133,080,986 - 133,081,064RGDNCBI36
Celera8129,187,526 - 129,187,604RGD
Cytogenetic Map8q24.22UniSTS
HuRef8128,329,385 - 128,329,463UniSTS
Stanford-G3 RH Map84084.0UniSTS
GeneMap99-G3 RH Map84174.0UniSTS
RH25366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,024,561 - 133,024,790UniSTSGRCh37
Build 368133,093,743 - 133,093,972RGDNCBI36
Celera8129,200,283 - 129,200,512RGD
Cytogenetic Map8q24.22UniSTS
HuRef8128,342,120 - 128,342,349UniSTS
D8S1352E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378132,962,240 - 132,962,318UniSTSGRCh37
Build 368133,031,422 - 133,031,500RGDNCBI36
Celera8129,137,955 - 129,138,033RGD
Cytogenetic Map8q24.22UniSTS
HuRef8128,279,814 - 128,279,892UniSTS
RH16036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,024,079 - 133,024,235UniSTSGRCh37
Build 368133,093,261 - 133,093,417RGDNCBI36
Celera8129,199,801 - 129,199,957RGD
Cytogenetic Map8q24.22UniSTS
HuRef8128,341,638 - 128,341,794UniSTS
GeneMap99-GB4 RH Map8506.52UniSTS
RH69785  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,018,026 - 133,018,177UniSTSGRCh37
Build 368133,087,208 - 133,087,359RGDNCBI36
Celera8129,193,748 - 129,193,899RGD
Cytogenetic Map8q24.22UniSTS
HuRef8128,335,607 - 128,335,758UniSTS
GeneMap99-GB4 RH Map8511.22UniSTS
NCBI RH Map81514.2UniSTS
D8S2121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,025,221 - 133,025,359UniSTSGRCh37
Build 368133,094,403 - 133,094,541RGDNCBI36
Celera8129,200,943 - 129,201,081RGD
Cytogenetic Map8q24.22UniSTS
HuRef8128,342,780 - 128,342,918UniSTS
SGC31235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,012,141 - 133,012,268UniSTSGRCh37
Build 368133,081,323 - 133,081,450RGDNCBI36
Celera8129,187,863 - 129,187,990RGD
Cytogenetic Map8q24.22UniSTS
HuRef8128,329,722 - 128,329,849UniSTS
TNG Radiation Hybrid Map45676.0UniSTS
GeneMap99-GB4 RH Map8510.02UniSTS
Whitehead-RH Map8648.9UniSTS
NCBI RH Map81514.2UniSTS
STS-R54000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378133,024,939 - 133,025,063UniSTSGRCh37
Build 368133,094,121 - 133,094,245RGDNCBI36
Celera8129,200,661 - 129,200,785RGD
Cytogenetic Map8q24.22UniSTS
HuRef8128,342,498 - 128,342,622UniSTS
GeneMap99-GB4 RH Map8510.43UniSTS
NCBI RH Map81515.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2926
Count of miRNA genes:781
Interacting mature miRNAs:929
Transcripts:ENST00000254624, ENST00000334503, ENST00000519656, ENST00000519920, ENST00000520362, ENST00000521940, ENST00000522709, ENST00000523074
Prediction methods: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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2315 1961 1652 575 1291 416 4305 1900 3068 357 1442 1601 175 1 1192 2744 6 2
Low 124 1024 74 49 654 49 52 297 666 62 18 11 12 44
Below cutoff 6 6

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_028112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001323558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_136616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC108667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC131486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC152442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG392245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ424552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU632041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA775398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX165980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D63477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB451954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB483230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB727938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY095205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY124760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000254624   ⟹   ENSP00000254624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8131,904,093 - 132,013,642 (+)Ensembl
RefSeq Acc Id: ENST00000519656   ⟹   ENSP00000428086
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8131,939,901 - 132,013,642 (+)Ensembl
RefSeq Acc Id: ENST00000519920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8131,984,139 - 132,000,956 (+)Ensembl
RefSeq Acc Id: ENST00000520362   ⟹   ENSP00000428844
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8131,939,881 - 131,944,805 (+)Ensembl
RefSeq Acc Id: ENST00000521940
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8132,000,755 - 132,011,146 (+)Ensembl
RefSeq Acc Id: ENST00000522709   ⟹   ENSP00000430512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8131,904,109 - 131,953,836 (+)Ensembl
RefSeq Acc Id: ENST00000523074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8131,996,390 - 132,011,079 (+)Ensembl
RefSeq Acc Id: ENST00000637848   ⟹   ENSP00000490312
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8131,938,225 - 132,010,895 (+)Ensembl
RefSeq Acc Id: NM_001323553   ⟹   NP_001310482
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388131,904,093 - 132,013,642 (+)NCBI
CHM1_18132,956,736 - 133,066,224 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323554   ⟹   NP_001310483
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388131,904,093 - 132,013,642 (+)NCBI
CHM1_18132,956,736 - 133,066,224 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323555   ⟹   NP_001310484
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388131,904,093 - 132,013,642 (+)NCBI
CHM1_18132,956,736 - 133,066,224 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323556   ⟹   NP_001310485
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388131,916,773 - 132,013,642 (+)NCBI
CHM1_18132,969,387 - 133,066,224 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323557   ⟹   NP_001310486
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388131,916,773 - 132,013,642 (+)NCBI
CHM1_18132,969,387 - 133,066,224 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001323558   ⟹   NP_001310487
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388131,904,093 - 132,013,642 (+)NCBI
CHM1_18132,956,736 - 133,066,224 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015137   ⟹   NP_055952
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388131,904,093 - 132,013,642 (+)NCBI
GRCh378132,916,356 - 133,025,889 (+)ENTREZGENE
Build 368132,985,541 - 133,094,956 (+)NCBI Archive
Celera8129,092,075 - 129,201,496 (+)RGD
HuRef8128,233,937 - 128,343,448 (+)ENTREZGENE
CHM1_18132,956,736 - 133,066,224 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136615
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388131,904,093 - 132,013,642 (+)NCBI
CHM1_18132,956,736 - 133,066,224 (+)NCBI
Sequence:
RefSeq Acc Id: NR_136616
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388131,904,093 - 132,013,642 (+)NCBI
CHM1_18132,956,736 - 133,066,224 (+)NCBI
Sequence:
RefSeq Acc Id: XR_002956625
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388131,916,681 - 132,013,206 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_055952   ⟸   NM_015137
- Peptide Label: isoform 1
- UniProtKB: Q14156 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310484   ⟸   NM_001323555
- Peptide Label: isoform 2
- UniProtKB: Q14156 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310483   ⟸   NM_001323554
- Peptide Label: isoform 2
- UniProtKB: Q14156 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310482   ⟸   NM_001323553
- Peptide Label: isoform 2
- UniProtKB: Q14156 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310487   ⟸   NM_001323558
- Peptide Label: isoform 3
- UniProtKB: Q14156 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310486   ⟸   NM_001323557
- Peptide Label: isoform 2
- UniProtKB: Q14156 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001310485   ⟸   NM_001323556
- Peptide Label: isoform 2
- UniProtKB: Q14156 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000254624   ⟸   ENST00000254624
RefSeq Acc Id: ENSP00000490312   ⟸   ENST00000637848
RefSeq Acc Id: ENSP00000428086   ⟸   ENST00000519656
RefSeq Acc Id: ENSP00000428844   ⟸   ENST00000520362
RefSeq Acc Id: ENSP00000430512   ⟸   ENST00000522709

Promoters
RGD ID:7214197
Promoter ID:EPDNEW_H12843
Type:initiation region
Name:EFR3A_1
Description:EFR3 homolog A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388131,904,093 - 131,904,153EPDNEW
RGD ID:6806651
Promoter ID:HG_KWN:62112
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000254624,   ENST00000377917
Position:
Human AssemblyChrPosition (strand)Source
Build 368132,985,441 - 132,986,002 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1 copy number loss See cases [RCV000050751] Chr8:129176782..134170188 [GRCh38]
Chr8:130189028..135182431 [GRCh37]
Chr8:130258210..135251613 [NCBI36]
Chr8:8q24.21-24.22
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
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 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
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 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 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23
pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q24.22(chr8:131770098-132203964)x3 copy number gain See cases [RCV000133767] Chr8:131770098..132203964 [GRCh38]
Chr8:132782345..133216211 [GRCh37]
Chr8:132851527..133285393 [NCBI36]
Chr8:8q24.22
uncertain significance
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 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
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 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
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 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
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 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely 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
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
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 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.21-24.22(chr8:128295596-133200773)x1 copy number loss See cases [RCV000448960] Chr8:128295596..133200773 [GRCh37]
Chr8:8q24.21-24.22
likely pathogenic
GRCh37/hg19 8q24.22(chr8:132812614-133245950)x3 copy number gain See cases [RCV000448346] Chr8:132812614..133245950 [GRCh37]
Chr8:8q24.22
uncertain significance
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 8q24.21-24.22(chr8:131025817-133947836)x3 copy number gain See cases [RCV000511900] Chr8:131025817..133947836 [GRCh37]
Chr8:8q24.21-24.22
uncertain significance
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
GRCh37/hg19 8q24.22(chr8:132005210-133698781)x3 copy number gain See cases [RCV000515570] Chr8:132005210..133698781 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
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 8q24.22(chr8:131932152-133020830)x3 copy number gain See cases [RCV000512493] Chr8:131932152..133020830 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.22(chr8:131932152-133020677)x3 copy number gain not provided [RCV000683003] Chr8:131932152..133020677 [GRCh37]
Chr8:8q24.22
likely benign
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
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 8q24.22(chr8:132822037-133262048)x3 copy number gain not provided [RCV000747858] Chr8:132822037..133262048 [GRCh37]
Chr8:8q24.22
benign
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
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.22(chr8:132588071-133169753)x3 copy number gain not provided [RCV000848381] Chr8:132588071..133169753 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22
pathogenic
GRCh37/hg19 8q24.22(chr8:131932469-133020848)x3 copy number gain not provided [RCV000849908] Chr8:131932469..133020848 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.22(chr8:131915430-135240074)x1 copy number loss not provided [RCV000845974] Chr8:131915430..135240074 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
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 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.22(chr8:132812544-133251797)x3 copy number gain not provided [RCV000846636] Chr8:132812544..133251797 [GRCh37]
Chr8:8q24.22
uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28970 AgrOrtholog
COSMIC EFR3A COSMIC
Ensembl Genes ENSG00000132294 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000254624 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428086 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428844 UniProtKB/TrEMBL
  ENSP00000430512 UniProtKB/TrEMBL
  ENSP00000490312 UniProtKB/TrEMBL
Ensembl Transcript ENST00000254624 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000519656 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520362 UniProtKB/TrEMBL
  ENST00000522709 UniProtKB/TrEMBL
  ENST00000637848 UniProtKB/TrEMBL
GTEx ENSG00000132294 GTEx
HGNC ID HGNC:28970 ENTREZGENE
Human Proteome Map EFR3A Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23167 UniProtKB/Swiss-Prot
NCBI Gene 23167 ENTREZGENE
OMIM 611798 OMIM
PharmGKB KIAA0143 RGD
  PA162384422 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1B0GUZ7_HUMAN UniProtKB/TrEMBL
  A0PJL1_HUMAN UniProtKB/TrEMBL
  A2VDI4_HUMAN UniProtKB/TrEMBL
  E5RFJ2_HUMAN UniProtKB/TrEMBL
  E5RJS1_HUMAN UniProtKB/TrEMBL
  EFR3A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A7MD19 UniProtKB/Swiss-Prot
  Q2VPK2 UniProtKB/Swiss-Prot
  Q63HL7 UniProtKB/Swiss-Prot
  Q68DX1 UniProtKB/Swiss-Prot
  Q6IQ18 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-07 EFR3A  EFR3 homolog A    EFR3 homolog A (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED