ELF1 (E74 like ETS transcription factor 1) - Rat Genome Database
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Gene: ELF1 (E74 like ETS transcription factor 1) Homo sapiens
Analyze
Symbol: ELF1
Name: E74 like ETS transcription factor 1
RGD ID: 734281
HGNC Page HGNC
Description: Exhibits DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Localizes to nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: E74-like factor 1 (ets domain transcription factor); EFTUD1; ETS-related transcription factor Elf-1; RIA1
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 Ensembl1340,931,924 - 41,061,440 (-)EnsemblGRCh38hg38GRCh38
GRCh381340,931,919 - 41,061,386 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371341,506,055 - 41,635,522 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361340,404,164 - 40,454,418 (-)NCBINCBI36hg18NCBI36
Build 341340,404,164 - 40,454,418NCBI
Celera1322,563,467 - 22,650,954 (-)NCBI
Cytogenetic Map13q14.11NCBI
HuRef1322,305,948 - 22,394,169 (-)NCBIHuRef
CHM1_11341,473,692 - 41,561,371 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
COVID-19  (HEP)

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

Additional References at PubMed
PMID:1527846   PMID:1545787   PMID:7862168   PMID:8493578   PMID:8756667   PMID:9094628   PMID:9524226   PMID:9668064   PMID:10207087   PMID:10377039   PMID:10976766   PMID:11210123  
PMID:11884456   PMID:12477932   PMID:12727645   PMID:14702039   PMID:14970218   PMID:15302935   PMID:16464244   PMID:16964243   PMID:17652178   PMID:18029348   PMID:18314487   PMID:18378679  
PMID:18692240   PMID:18714041   PMID:19274049   PMID:19624906   PMID:19674970   PMID:19822898   PMID:20346215   PMID:20379614   PMID:20600580   PMID:21044949   PMID:21811762   PMID:21867680  
PMID:21873635   PMID:21931859   PMID:23266558   PMID:23273568   PMID:26553150   PMID:26643049   PMID:28473536   PMID:28514442   PMID:29507755   PMID:30415952   PMID:30681722   PMID:31586073  
PMID:32271431   PMID:32296183  


Genomics

Comparative Map Data
ELF1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1340,931,924 - 41,061,440 (-)EnsemblGRCh38hg38GRCh38
GRCh381340,931,919 - 41,061,386 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371341,506,055 - 41,635,522 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361340,404,164 - 40,454,418 (-)NCBINCBI36hg18NCBI36
Build 341340,404,164 - 40,454,418NCBI
Celera1322,563,467 - 22,650,954 (-)NCBI
Cytogenetic Map13q14.11NCBI
HuRef1322,305,948 - 22,394,169 (-)NCBIHuRef
CHM1_11341,473,692 - 41,561,371 (-)NCBICHM1_1
Elf1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391479,718,632 - 79,819,931 (+)NCBIGRCm39mm39
GRCm39 Ensembl1479,718,634 - 79,819,934 (+)Ensembl
GRCm381479,481,174 - 79,582,491 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1479,481,194 - 79,582,494 (+)EnsemblGRCm38mm10GRCm38
MGSCv371479,881,001 - 79,982,283 (+)NCBIGRCm37mm9NCBIm37
MGSCv361478,215,349 - 78,316,631 (+)NCBImm8
Celera1476,981,316 - 77,082,589 (+)NCBICelera
Cytogenetic Map14D3NCBI
Elf1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21554,890,644 - 54,986,721 (+)NCBI
Rnor_6.0 Ensembl1561,826,711 - 61,868,343 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01561,772,544 - 61,868,442 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01565,436,987 - 65,532,178 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41560,793,794 - 60,835,189 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11560,809,573 - 60,850,969 (+)NCBI
Celera1554,525,607 - 54,566,099 (+)NCBICelera
Cytogenetic Map15q12NCBI
Elf1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540450,952,907 - 51,020,229 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540450,952,907 - 51,020,229 (-)NCBIChiLan1.0ChiLan1.0
ELF1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11340,726,930 - 40,853,424 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1340,726,930 - 40,774,734 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01322,136,952 - 22,263,523 (-)NCBIMhudiblu_PPA_v0panPan3
ELF1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1229,565,912 - 9,671,017 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl229,592,978 - 9,670,271 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha229,562,008 - 9,668,069 (+)NCBI
ROS_Cfam_1.0229,789,000 - 9,895,485 (+)NCBI
UMICH_Zoey_3.1229,487,393 - 9,593,262 (+)NCBI
UNSW_CanFamBas_1.0229,536,952 - 9,642,910 (+)NCBI
UU_Cfam_GSD_1.0229,551,384 - 9,657,678 (+)NCBI
Elf1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_024404945151,345,939 - 151,450,022 (-)NCBI
SpeTri2.0NW_004936667449,682 - 553,780 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ELF1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1125,810,572 - 25,900,802 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11125,772,090 - 25,896,613 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21126,327,352 - 26,385,612 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ELF1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1319,218,161 - 19,303,116 (-)NCBI
ChlSab1.1 Ensembl319,217,771 - 19,303,113 (-)Ensembl
Elf1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474813,987,001 - 14,090,451 (+)NCBI

Position Markers
RH46566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371341,506,347 - 41,506,466UniSTSGRCh37
Build 361340,404,347 - 40,404,466RGDNCBI36
Celera1322,563,759 - 22,563,878RGD
Cytogenetic Map13q13UniSTS
HuRef1322,306,240 - 22,306,359UniSTS
GeneMap99-GB4 RH Map13130.08UniSTS
NCBI RH Map13324.2UniSTS
D13S307  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371341,553,240 - 41,553,526UniSTSGRCh37
GRCh371341,553,209 - 41,553,526UniSTSGRCh37
Build 361340,451,209 - 40,451,526RGDNCBI36
Celera1322,610,676 - 22,610,966UniSTS
Celera1322,610,645 - 22,610,966RGD
Cytogenetic Map13q13UniSTS
HuRef1322,353,874 - 22,354,195UniSTS
HuRef1322,353,905 - 22,354,195UniSTS
STS-M82882  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371341,506,450 - 41,506,667UniSTSGRCh37
Build 361340,404,450 - 40,404,667RGDNCBI36
Celera1322,563,862 - 22,564,079RGD
Cytogenetic Map13q13UniSTS
HuRef1322,306,343 - 22,306,560UniSTS
GeneMap99-GB4 RH Map13130.68UniSTS
RH44562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371341,594,495 - 41,594,618UniSTSGRCh37
Build 361340,492,495 - 40,492,618RGDNCBI36
Celera1322,651,941 - 22,652,064RGD
Cytogenetic Map13q13UniSTS
HuRef1322,395,156 - 22,395,279UniSTS
RH68759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371341,517,438 - 41,517,593UniSTSGRCh37
Build 361340,415,438 - 40,415,593RGDNCBI36
Celera1322,574,855 - 22,575,010RGD
Cytogenetic Map13q13UniSTS
HuRef1322,317,337 - 22,317,492UniSTS
GeneMap99-GB4 RH Map13130.63UniSTS
SGC34734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371341,594,587 - 41,594,736UniSTSGRCh37
Build 361340,492,587 - 40,492,736RGDNCBI36
Celera1322,652,033 - 22,652,182RGD
Cytogenetic Map13q13UniSTS
HuRef1322,395,248 - 22,395,397UniSTS
GeneMap99-GB4 RH Map13130.73UniSTS
Whitehead-RH Map13126.8UniSTS
G17772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371341,537,321 - 41,537,547UniSTSGRCh37
Build 361340,435,321 - 40,435,547RGDNCBI36
Celera1322,594,756 - 22,594,982RGD
Cytogenetic Map13q13UniSTS
HuRef1322,337,984 - 22,338,210UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:983
Count of miRNA genes:374
Interacting mature miRNAs:410
Transcripts:ENST00000239882, ENST00000405737, ENST00000442101, ENST00000498824
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2424 2572 1481 453 1870 295 3956 1532 1204 330 1355 1579 171 1203 2398 4
Low 12 413 243 169 78 169 399 662 2506 87 94 32 1 390
Below cutoff 1 3 2 2 1 1 16 2 10 1 4 1 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001145353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001370332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_172373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK095466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ722965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC418141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M82882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000239882   ⟹   ENSP00000239882
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1340,931,924 - 41,019,316 (-)Ensembl
RefSeq Acc Id: ENST00000405737   ⟹   ENSP00000384135
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1340,981,983 - 41,061,440 (-)Ensembl
RefSeq Acc Id: ENST00000498824   ⟹   ENSP00000487240
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1340,932,028 - 40,982,242 (-)Ensembl
RefSeq Acc Id: ENST00000625359   ⟹   ENSP00000486912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1340,933,352 - 40,982,225 (-)Ensembl
RefSeq Acc Id: ENST00000635415   ⟹   ENSP00000489586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1340,933,439 - 40,982,899 (-)Ensembl
RefSeq Acc Id: NM_001145353   ⟹   NP_001138825
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381340,931,919 - 40,982,282 (-)NCBI
GRCh371341,506,055 - 41,635,544 (-)NCBI
HuRef1322,305,948 - 22,394,169 (-)ENTREZGENE
CHM1_11341,473,692 - 41,524,301 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001370329   ⟹   NP_001357258
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381340,931,924 - 41,061,386 (-)NCBI
RefSeq Acc Id: NM_001370330   ⟹   NP_001357259
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381340,931,924 - 41,061,386 (-)NCBI
RefSeq Acc Id: NM_001370331   ⟹   NP_001357260
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381340,931,924 - 40,982,899 (-)NCBI
RefSeq Acc Id: NM_001370332   ⟹   NP_001357261
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381340,931,924 - 41,019,316 (-)NCBI
RefSeq Acc Id: NM_172373   ⟹   NP_758961
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381340,931,924 - 41,019,316 (-)NCBI
GRCh371341,506,055 - 41,635,544 (-)NCBI
Build 361340,404,164 - 40,454,418 (-)NCBI Archive
HuRef1322,305,948 - 22,394,169 (-)ENTREZGENE
CHM1_11341,473,692 - 41,561,371 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_758961   ⟸   NM_172373
- Peptide Label: isoform a
- UniProtKB: P32519 (UniProtKB/Swiss-Prot),   A0A024RDU6 (UniProtKB/TrEMBL),   Q6MZZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001138825   ⟸   NM_001145353
- Peptide Label: isoform b
- UniProtKB: P32519 (UniProtKB/Swiss-Prot),   Q6MZZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001357259   ⟸   NM_001370330
- Peptide Label: isoform a
RefSeq Acc Id: NP_001357258   ⟸   NM_001370329
- Peptide Label: isoform c
RefSeq Acc Id: NP_001357261   ⟸   NM_001370332
- Peptide Label: isoform a
RefSeq Acc Id: NP_001357260   ⟸   NM_001370331
- Peptide Label: isoform a
RefSeq Acc Id: ENSP00000489586   ⟸   ENST00000635415
RefSeq Acc Id: ENSP00000486912   ⟸   ENST00000625359
RefSeq Acc Id: ENSP00000384135   ⟸   ENST00000405737
RefSeq Acc Id: ENSP00000487240   ⟸   ENST00000498824
RefSeq Acc Id: ENSP00000239882   ⟸   ENST00000239882
Protein Domains
Elf-1_N   ETS

Promoters
RGD ID:6810487
Promoter ID:HG_ACW:20545
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ELF1.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361340,405,666 - 40,406,166 (-)MPROMDB
RGD ID:6790788
Promoter ID:HG_KWN:17651
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001145353,   UC001UXR.1,   UC010ACD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361340,453,926 - 40,455,187 (-)MPROMDB
RGD ID:7226277
Promoter ID:EPDNEW_H18884
Type:initiation region
Name:ELF1_3
Description:E74 like ETS transcription factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18885  EPDNEW_H18888  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381340,982,896 - 40,982,956EPDNEW
RGD ID:7226279
Promoter ID:EPDNEW_H18885
Type:initiation region
Name:ELF1_2
Description:E74 like ETS transcription factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18884  EPDNEW_H18888  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381341,019,316 - 41,019,376EPDNEW
RGD ID:7226287
Promoter ID:EPDNEW_H18888
Type:initiation region
Name:ELF1_1
Description:E74 like ETS transcription factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18884  EPDNEW_H18885  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381341,061,384 - 41,061,444EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1 copy number loss See cases [RCV000051373] Chr13:30697728..69471973 [GRCh38]
Chr13:31271865..70046105 [GRCh37]
Chr13:30169865..68944106 [NCBI36]
Chr13:13q12.3-21.33
pathogenic
GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1 copy number loss See cases [RCV000051375] Chr13:35232476..41375955 [GRCh38]
Chr13:35806613..41950091 [GRCh37]
Chr13:34704613..40848091 [NCBI36]
Chr13:13q13.3-14.11
pathogenic
GRCh38/hg38 13q13.3-14.2(chr13:38558617-47502862)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051377]|See cases [RCV000051377] Chr13:38558617..47502862 [GRCh38]
Chr13:39132754..48076997 [GRCh37]
Chr13:38030754..46974998 [NCBI36]
Chr13:13q13.3-14.2
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1
pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34
pathogenic
GRCh38/hg38 13q14.11(chr13:40799505-44006174)x3 copy number gain See cases [RCV000053761] Chr13:40799505..44006174 [GRCh38]
Chr13:41373641..44580310 [GRCh37]
Chr13:40271641..43478310 [NCBI36]
Chr13:13q14.11
pathogenic
NC_000013.11:g.41039277A>G single nucleotide variant Lung cancer [RCV000097907] Chr13:41039277 [GRCh38]
Chr13:41613413 [GRCh37]
Chr13:13q14.11
uncertain significance
GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1 copy number loss See cases [RCV000133696] Chr13:36777318..62955876 [GRCh38]
Chr13:37351455..63530009 [GRCh37]
Chr13:36249455..62428010 [NCBI36]
Chr13:13q13.3-21.31
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3 copy number gain See cases [RCV000135808] Chr13:31553608..65470367 [GRCh38]
Chr13:32127745..66044499 [GRCh37]
Chr13:31025745..64942500 [NCBI36]
Chr13:13q12.3-21.32
pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34
pathogenic
GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1 copy number loss See cases [RCV000138723] Chr13:31018160..48491204 [GRCh38]
Chr13:31592297..49065340 [GRCh37]
Chr13:30490297..47963341 [NCBI36]
Chr13:13q12.3-14.2
pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1 copy number loss See cases [RCV000140744] Chr13:37864226..67963788 [GRCh38]
Chr13:38438363..68537920 [GRCh37]
Chr13:37336363..67435921 [NCBI36]
Chr13:13q13.3-21.32
pathogenic
GRCh38/hg38 13q13.3-14.3(chr13:38514177-51425214)x1 copy number loss See cases [RCV000140788] Chr13:38514177..51425214 [GRCh38]
Chr13:39088314..51999350 [GRCh37]
Chr13:37986314..50897351 [NCBI36]
Chr13:13q13.3-14.3
pathogenic
GRCh38/hg38 13q14.11(chr13:39860568-43580405)x3 copy number gain See cases [RCV000142892] Chr13:39860568..43580405 [GRCh38]
Chr13:40434705..44154541 [GRCh37]
Chr13:39332705..43052541 [NCBI36]
Chr13:13q14.11
uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34
pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3
pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34
pathogenic
GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)x1 copy number loss See cases [RCV000446067] Chr13:32946120..62698217 [GRCh37]
Chr13:13q13.1-21.31
pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q14.11(chr13:41202702-41506651)x4 copy number gain not provided [RCV000683513] Chr13:41202702..41506651 [GRCh37]
Chr13:13q14.11
uncertain significance
GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3 copy number gain not provided [RCV000683572] Chr13:19436286..74045459 [GRCh37]
Chr13:13q11-22.1
pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34
pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34
pathogenic
NM_172373.4(ELF1):c.1092A>T (p.Pro364=) single nucleotide variant not provided [RCV000950453] Chr13:40941085 [GRCh38]
Chr13:41515221 [GRCh37]
Chr13:13q14.11
benign
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34
pathogenic
NM_172373.4(ELF1):c.1842G>A (p.Leu614=) single nucleotide variant not provided [RCV000947521] Chr13:40933443 [GRCh38]
Chr13:41507579 [GRCh37]
Chr13:13q14.11
benign
GRCh37/hg19 13q14.11(chr13:41383468-41902324)x1 copy number loss not provided [RCV001006559] Chr13:41383468..41902324 [GRCh37]
Chr13:13q14.11
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3316 AgrOrtholog
COSMIC ELF1 COSMIC
Ensembl Genes ENSG00000120690 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000239882 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384135 UniProtKB/TrEMBL
  ENSP00000486912 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000487240 UniProtKB/TrEMBL
  ENSP00000489586 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000239882 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000405737 UniProtKB/TrEMBL
  ENST00000498824 UniProtKB/TrEMBL
  ENST00000625359 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000635415 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000120690 GTEx
HGNC ID HGNC:3316 ENTREZGENE
Human Proteome Map ELF1 Human Proteome Map
InterPro Ets_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_Elf_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1997 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1997 ENTREZGENE
OMIM 189973 OMIM
Pfam Elf-1_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ets UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27744 PharmGKB
PRINTS ETSDOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ETS_DOMAIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ETS_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ETS_DOMAIN_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ETS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RDU6 ENTREZGENE, UniProtKB/TrEMBL
  A0A0D9SG85_HUMAN UniProtKB/TrEMBL
  A0A0U1RRL5_HUMAN UniProtKB/TrEMBL
  ELF1_HUMAN UniProtKB/Swiss-Prot
  L8E9U9_HUMAN UniProtKB/TrEMBL
  P32519 ENTREZGENE
  Q5T9E7_HUMAN UniProtKB/TrEMBL
  Q6MZZ4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B4E2I5 UniProtKB/Swiss-Prot
  E9PDQ9 UniProtKB/Swiss-Prot
  Q8N6F6 UniProtKB/Swiss-Prot
  Q9UDE1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-29 ELF1  E74 like ETS transcription factor 1    E74-like factor 1 (ets domain transcription factor)  Symbol and/or name change 5135510 APPROVED
2011-08-17 ELF1  E74-like factor 1 (ets domain transcription factor)  ELF1  E74-like factor 1 (ets domain transcription factor)  Symbol and/or name change 5135510 APPROVED