ERFL (ETS repressor factor like) - Rat Genome Database

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Gene: ERFL (ETS repressor factor like) Homo sapiens
Analyze
Symbol: ERFL
Name: ETS repressor factor like
RGD ID: 14696661
HGNC Page HGNC:53894
Description: Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: erfl1; ETS domain-containing transcription factor ERF; ETS domain-containing transcription factor ERF-like; Ets2 repressor factor-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
GRCh381941,907,704 - 41,928,449 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1941,907,704 - 41,928,449 (-)EnsemblGRCh38hg38GRCh38
GRCh371942,411,856 - 42,432,601 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map19q13.2NCBI
HuRef1938,843,034 - 38,862,997 (-)NCBIHuRef
CHM1_11942,413,476 - 42,433,879 (-)NCBICHM1_1
T2T-CHM13v2.01944,727,200 - 44,747,732 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
schizophrenia  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleus  (IBA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References
Additional References at PubMed
PMID:19167051   PMID:21873635  


Genomics

Comparative Map Data
ERFL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381941,907,704 - 41,928,449 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1941,907,704 - 41,928,449 (-)EnsemblGRCh38hg38GRCh38
GRCh371942,411,856 - 42,432,601 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map19q13.2NCBI
HuRef1938,843,034 - 38,862,997 (-)NCBIHuRef
CHM1_11942,413,476 - 42,433,879 (-)NCBICHM1_1
T2T-CHM13v2.01944,727,200 - 44,747,732 (-)NCBIT2T-CHM13v2.0
Erfl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39724,626,381 - 24,644,255 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl724,626,870 - 24,643,919 (-)EnsemblGRCm39 Ensembl
GRCm38724,926,956 - 24,944,771 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl724,927,445 - 24,944,494 (-)EnsemblGRCm38mm10GRCm38
MGSCv37725,712,464 - 25,740,375 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36724,636,205 - 24,663,138 (-)NCBIMGSCv36mm8
Celera719,543,476 - 19,571,432 (-)NCBICelera
Cytogenetic Map7A3NCBI
cM Map713.67NCBI
Erfl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8189,649,244 - 89,654,379 (-)NCBIGRCr8
mRatBN7.2180,521,378 - 80,526,262 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl180,521,854 - 80,526,262 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0181,797,341 - 81,802,555 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0183,054,743 - 83,060,782 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4180,227,253 - 80,233,737 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera174,968,254 - 74,973,488 (-)NCBICelera
Cytogenetic Map1q21NCBI
Erfl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955555929,984 - 941,311 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955555929,984 - 941,311 (+)NCBIChiLan1.0ChiLan1.0
ERFL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22048,013,273 - 48,033,785 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11949,882,218 - 49,902,736 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01938,796,425 - 38,816,752 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
ERFL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11112,388,786 - 112,392,027 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1111,821,802 - 111,827,060 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01113,009,390 - 113,014,650 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1113,009,476 - 113,014,270 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11112,562,773 - 112,568,034 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01112,198,978 - 112,204,229 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01113,125,429 - 113,130,690 (+)NCBIUU_Cfam_GSD_1.0
Erfl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934916,191,073 - 16,193,388 (+)NCBIHiC_Itri_2
SpeTri2.0NW_004936706537,933 - 540,209 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERFL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl649,957,840 - 49,976,205 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1649,957,595 - 49,975,733 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2646,011,758 - 46,016,435 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ERFL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1636,115,593 - 36,144,994 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607314,352,016 - 14,373,361 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Erfl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624907778,068 - 783,186 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624907778,155 - 783,148 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ERFL
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele duplication Schizophrenia [RCV000754211] Chr19:41608672..44315856 [GRCh38]
Chr19:19q13.2-13.31		 likely pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3 copy number gain See cases [RCV000050636] Chr19:37319377..42738688 [GRCh38]
Chr19:37810279..43242840 [GRCh37]
Chr19:42502119..47934680 [NCBI36]
Chr19:19q13.12-13.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:989
Count of miRNA genes:595
Interacting mature miRNAs:698
Transcripts:ENST00000597630, ENST00000598387
Prediction methods:Microtar, Miranda, Rnahybrid
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
High
Medium 39 5 14 9 168 9 1 5 21 8 12
Low 1473 1855 487 121 1417 70 2665 583 2490 111 1269 1042 63 712 1650 2
Below cutoff 905 1105 1124 430 301 324 1561 1491 1186 234 153 521 105 491 1043 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000597630   ⟹   ENSP00000491574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1941,907,704 - 41,928,449 (-)Ensembl
RefSeq Acc Id: NM_001365103   ⟹   NP_001352032
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381941,907,704 - 41,928,449 (-)NCBI
T2T-CHM13v2.01944,727,200 - 44,747,732 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001352032 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A0A1W2PQ73 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000491574
  ENSP00000491574.1
Reference Protein Sequences
RefSeq Acc Id: NP_001352032   ⟸   NM_001365103
- UniProtKB: A0A1W2PQ73 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000491574   ⟸   ENST00000597630

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A1W2PQ73-F1-model_v2 AlphaFold A0A1W2PQ73 1-354 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:53894 AgrOrtholog
COSMIC ERFL COSMIC
Ensembl Genes ENSG00000268041 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000597630 ENTREZGENE
  ENST00000597630.3 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000268041 GTEx
HGNC ID HGNC:53894 ENTREZGENE
Human Proteome Map ERFL Human Proteome Map
InterPro Ets_dom UniProtKB/Swiss-Prot
  ETS_fam UniProtKB/Swiss-Prot
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot
  WH_DNA-bd_sf UniProtKB/Swiss-Prot
NCBI Gene ERFL ENTREZGENE
PANTHER ETS DOMAIN-CONTAINING TRANSCRIPTION FACTOR ERF-LIKE UniProtKB/Swiss-Prot
  PTHR11849 UniProtKB/Swiss-Prot
Pfam Ets UniProtKB/Swiss-Prot
PRINTS ETSDOMAIN UniProtKB/Swiss-Prot
PROSITE ETS_DOMAIN_1 UniProtKB/Swiss-Prot
  ETS_DOMAIN_2 UniProtKB/Swiss-Prot
  ETS_DOMAIN_3 UniProtKB/Swiss-Prot
SMART ETS UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot
UniProt A0A1W2PQ73 ENTREZGENE, UniProtKB/Swiss-Prot