EBAG9 (estrogen receptor binding site associated antigen 9) - Rat Genome Database

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Gene: EBAG9 (estrogen receptor binding site associated antigen 9) Homo sapiens
Analyze
Symbol: EBAG9
Name: estrogen receptor binding site associated antigen 9
RGD ID: 1316400
HGNC Page HGNC
Description: Predicted to be involved in apoptotic process. Predicted to localize to secretory granule. Implicated in breast cancer. Biomarker of breast ductal carcinoma (multiple); endometriosis (multiple); female reproductive organ cancer (multiple); and pre-eclampsia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cancer associated surface antigen; cancer-associated surface antigen RCAS1; EB9; estrogen receptor binding site associated, antigen, 9; estrogen receptor-binding fragment-associated gene 9 protein; PDAF; RCAS1; receptor-binding cancer antigen expressed on SiSo cells
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: EBAG9P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8109,539,711 - 109,565,996 (+)EnsemblGRCh38hg38GRCh38
GRCh388109,539,702 - 109,565,996 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378110,551,931 - 110,578,225 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368110,621,105 - 110,646,568 (+)NCBINCBI36hg18NCBI36
Build 348110,621,104 - 110,646,565NCBI
Celera8106,739,328 - 106,764,788 (+)NCBI
Cytogenetic Map8q23.2NCBI
HuRef8105,873,913 - 105,900,207 (+)NCBIHuRef
CHM1_18110,592,186 - 110,618,469 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8889548   PMID:9418891   PMID:10426319   PMID:10873660   PMID:11298137   PMID:11435298   PMID:11705872   PMID:11743045   PMID:11992411   PMID:12138241   PMID:12477932   PMID:12672804  
PMID:12774924   PMID:12888828   PMID:14514780   PMID:14534714   PMID:14981953   PMID:15144186   PMID:15254686   PMID:15460847   PMID:15489334   PMID:15592455   PMID:15635093   PMID:15808510  
PMID:15813909   PMID:15904507   PMID:16012715   PMID:16113565   PMID:16175077   PMID:16211275   PMID:16273616   PMID:16595162   PMID:16907986   PMID:17081983   PMID:17187008   PMID:17250817  
PMID:17466050   PMID:17516841   PMID:17562271   PMID:17604121   PMID:17717421   PMID:17825484   PMID:17849467   PMID:17981616   PMID:18029348   PMID:18032910   PMID:18292826   PMID:18688918  
PMID:19030177   PMID:19032612   PMID:19122463   PMID:19337974   PMID:19574770   PMID:19634109   PMID:19813143   PMID:19953087   PMID:19957811   PMID:20079734   PMID:20164540   PMID:20570965  
PMID:20571277   PMID:20645939   PMID:21804460   PMID:21845402   PMID:21873635   PMID:22460085   PMID:22530960   PMID:23164108   PMID:23563217   PMID:23881387   PMID:24119785   PMID:24720371  
PMID:24815841   PMID:24885040   PMID:25177692   PMID:25674852   PMID:25773455   PMID:26438059   PMID:26638075   PMID:28692057   PMID:28986522   PMID:29568061   PMID:30950002   PMID:31056421  
PMID:32296183   PMID:32788342  


Genomics

Comparative Map Data
EBAG9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8109,539,711 - 109,565,996 (+)EnsemblGRCh38hg38GRCh38
GRCh388109,539,702 - 109,565,996 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378110,551,931 - 110,578,225 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368110,621,105 - 110,646,568 (+)NCBINCBI36hg18NCBI36
Build 348110,621,104 - 110,646,565NCBI
Celera8106,739,328 - 106,764,788 (+)NCBI
Cytogenetic Map8q23.2NCBI
HuRef8105,873,913 - 105,900,207 (+)NCBIHuRef
CHM1_18110,592,186 - 110,618,469 (+)NCBICHM1_1
Ebag9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391544,482,623 - 44,504,929 (+)NCBIGRCm39mm39
GRCm39 Ensembl1544,482,571 - 44,504,911 (+)Ensembl
GRCm381544,619,227 - 44,641,538 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1544,619,175 - 44,641,515 (+)EnsemblGRCm38mm10GRCm38
MGSCv371544,451,187 - 44,472,573 (+)NCBIGRCm37mm9NCBIm37
MGSCv361544,449,679 - 44,470,986 (+)NCBImm8
Celera1545,075,364 - 45,096,726 (+)NCBICelera
Cytogenetic Map15B3.2NCBI
Ebag9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2775,810,950 - 75,828,902 (+)NCBI
Rnor_6.0 Ensembl783,564,563 - 83,582,508 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0783,564,563 - 83,582,516 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0783,579,394 - 83,597,347 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4780,515,272 - 80,533,346 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1780,536,001 - 80,554,073 (+)NCBI
Celera772,780,743 - 72,798,677 (+)NCBICelera
Cytogenetic Map7q31NCBI
Ebag9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541716,936,622 - 16,958,876 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541716,941,035 - 16,958,876 (+)NCBIChiLan1.0ChiLan1.0
EBAG9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18108,335,233 - 108,361,475 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8108,335,590 - 108,361,475 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08106,190,208 - 106,216,402 (+)NCBIMhudiblu_PPA_v0panPan3
EBAG9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11310,081,700 - 10,099,737 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1310,081,695 - 10,099,501 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1310,077,585 - 10,090,151 (+)NCBI
ROS_Cfam_1.01310,363,392 - 10,381,433 (+)NCBI
UMICH_Zoey_3.11310,110,045 - 10,122,607 (+)NCBI
UNSW_CanFamBas_1.01310,227,089 - 10,239,836 (+)NCBI
UU_Cfam_GSD_1.01310,316,781 - 10,329,348 (+)NCBI
Ebag9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530328,023,492 - 28,047,531 (-)NCBI
SpeTri2.0NW_00493647035,449,920 - 35,473,635 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EBAG9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl427,986,865 - 28,013,949 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1427,986,270 - 28,013,970 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2430,227,837 - 30,255,620 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EBAG9
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18104,240,197 - 104,266,768 (+)NCBI
ChlSab1.1 Ensembl8104,251,418 - 104,264,703 (+)Ensembl
Vero_WHO_p1.0NW_02366603936,308,335 - 36,335,067 (-)NCBI
Ebag9
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247638,621,666 - 8,649,109 (+)NCBI

Position Markers
RH36617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,563,233 - 110,563,462UniSTSGRCh37
Build 368110,632,409 - 110,632,638RGDNCBI36
Celera8106,750,632 - 106,750,861RGD
Cytogenetic Map8q23UniSTS
HuRef8105,885,218 - 105,885,447UniSTS
GeneMap99-GB4 RH Map8447.37UniSTS
D8S1373E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,576,912 - 110,577,091UniSTSGRCh37
Build 368110,646,088 - 110,646,267RGDNCBI36
Celera8106,764,308 - 106,764,487RGD
Cytogenetic Map8q23UniSTS
HuRef8105,898,894 - 105,899,073UniSTS
D8S1940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,576,728 - 110,576,852UniSTSGRCh37
Build 368110,645,904 - 110,646,028RGDNCBI36
Celera8106,764,124 - 106,764,248RGD
Cytogenetic Map8q23UniSTS
HuRef8105,898,710 - 105,898,834UniSTS
GeneMap99-GB4 RH Map8445.58UniSTS
Whitehead-RH Map8590.7UniSTS
Whitehead-YAC Contig Map8 UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1146
Count of miRNA genes:612
Interacting mature miRNAs:707
Transcripts:ENST00000337573, ENST00000395785, ENST00000527709, ENST00000529502, ENST00000529931, ENST00000530629, ENST00000531677, ENST00000534318
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
Medium 1471 1233 1399 330 961 225 2679 852 2075 335 1282 1394 118 820 1718 3
Low 968 1721 327 294 955 240 1677 1343 1659 84 178 219 57 1 384 1070 3 2
Below cutoff 37 35 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001278938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA812215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB007619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF006265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF264617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI619447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL515533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY515724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY653072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG427211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG616704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG707115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI194881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA450508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD108096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000337573   ⟹   ENSP00000337675
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,540,173 - 109,565,996 (+)Ensembl
RefSeq Acc Id: ENST00000395785   ⟹   ENSP00000379131
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,539,711 - 109,565,160 (+)Ensembl
RefSeq Acc Id: ENST00000527709   ⟹   ENSP00000437214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,540,185 - 109,560,866 (+)Ensembl
RefSeq Acc Id: ENST00000529502
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,539,759 - 109,557,917 (+)Ensembl
RefSeq Acc Id: ENST00000529931   ⟹   ENSP00000435687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,539,838 - 109,557,027 (+)Ensembl
RefSeq Acc Id: ENST00000530629   ⟹   ENSP00000434878
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,540,626 - 109,564,508 (+)Ensembl
RefSeq Acc Id: ENST00000531677   ⟹   ENSP00000432082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,550,825 - 109,564,559 (+)Ensembl
RefSeq Acc Id: ENST00000534318   ⟹   ENSP00000435689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,550,247 - 109,554,801 (+)Ensembl
RefSeq Acc Id: ENST00000614147   ⟹   ENSP00000477734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,540,075 - 109,564,559 (+)Ensembl
RefSeq Acc Id: ENST00000620557   ⟹   ENSP00000477645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,540,626 - 109,565,988 (+)Ensembl
RefSeq Acc Id: NM_001278938   ⟹   NP_001265867
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,540,173 - 109,565,996 (+)NCBI
HuRef8105,873,913 - 105,900,207 (+)NCBI
CHM1_18110,593,112 - 110,618,469 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004215   ⟹   NP_004206
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,540,173 - 109,565,996 (+)NCBI
GRCh378110,551,929 - 110,578,225 (+)NCBI
Build 368110,621,486 - 110,646,568 (+)NCBI Archive
HuRef8105,873,913 - 105,900,207 (+)NCBI
CHM1_18110,592,561 - 110,618,469 (+)NCBI
Sequence:
RefSeq Acc Id: NM_198120   ⟹   NP_936056
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,539,702 - 109,565,996 (+)NCBI
GRCh378110,551,929 - 110,578,225 (+)NCBI
Build 368110,621,105 - 110,646,568 (+)NCBI Archive
HuRef8105,873,913 - 105,900,207 (+)NCBI
CHM1_18110,592,186 - 110,618,469 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013960   ⟹   XP_016869449
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,540,153 - 109,565,163 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_936056   ⟸   NM_198120
- UniProtKB: O00559 (UniProtKB/Swiss-Prot),   A0A024R9E0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004206   ⟸   NM_004215
- UniProtKB: O00559 (UniProtKB/Swiss-Prot),   A0A024R9E0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265867   ⟸   NM_001278938
- UniProtKB: O00559 (UniProtKB/Swiss-Prot),   A0A024R9E0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869449   ⟸   XM_017013960
- Peptide Label: isoform X1
- UniProtKB: O00559 (UniProtKB/Swiss-Prot),   A0A024R9E0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000477645   ⟸   ENST00000620557
RefSeq Acc Id: ENSP00000434878   ⟸   ENST00000530629
RefSeq Acc Id: ENSP00000432082   ⟸   ENST00000531677
RefSeq Acc Id: ENSP00000337675   ⟸   ENST00000337573
RefSeq Acc Id: ENSP00000435689   ⟸   ENST00000534318
RefSeq Acc Id: ENSP00000477734   ⟸   ENST00000614147
RefSeq Acc Id: ENSP00000437214   ⟸   ENST00000527709
RefSeq Acc Id: ENSP00000379131   ⟸   ENST00000395785
RefSeq Acc Id: ENSP00000435687   ⟸   ENST00000529931

Promoters
RGD ID:7214003
Promoter ID:EPDNEW_H12746
Type:initiation region
Name:EBAG9_2
Description:estrogen receptor binding site associated, antigen, 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12747  EPDNEW_H12748  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,539,722 - 109,539,782EPDNEW
RGD ID:7214001
Promoter ID:EPDNEW_H12747
Type:initiation region
Name:EBAG9_1
Description:estrogen receptor binding site associated, antigen, 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12746  EPDNEW_H12748  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,540,184 - 109,540,244EPDNEW
RGD ID:7214007
Promoter ID:EPDNEW_H12748
Type:multiple initiation site
Name:EBAG9_3
Description:estrogen receptor binding site associated, antigen, 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12747  EPDNEW_H12746  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,550,807 - 109,550,867EPDNEW
RGD ID:6806640
Promoter ID:HG_KWN:61924
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:ENST00000276658,   NM_004215,   NM_198120,   UC010MCN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368110,620,796 - 110,621,737 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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 8q23.1-23.2(chr8:107356178-110913494)x3 copy number gain See cases [RCV000052185] Chr8:107356178..110913494 [GRCh38]
Chr8:108368406..111925723 [GRCh37]
Chr8:108437582..111994899 [NCBI36]
Chr8:8q23.1-23.2
uncertain significance
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 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 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 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 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 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 8q23.1-23.2(chr8:108988194-109697085)x3 copy number gain See cases [RCV000142133] Chr8:108988194..109697085 [GRCh38]
Chr8:110000423..110709314 [GRCh37]
Chr8:110069599..110778490 [NCBI36]
Chr8:8q23.1-23.2
likely benign|uncertain significance
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
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 8q23.1-23.2(chr8:109214531-110868812)x3 copy number gain See cases [RCV000446663] Chr8:109214531..110868812 [GRCh37]
Chr8:8q23.1-23.2
uncertain significance
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12
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 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
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 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
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
NM_004215.5(EBAG9):c.162+5G>T single nucleotide variant not provided [RCV000963912] Chr8:109553948 [GRCh38]
Chr8:110566177 [GRCh37]
Chr8:8q23.2
benign
GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1 copy number loss not provided [RCV000847013] Chr8:104437051..114170843 [GRCh37]
Chr8:8q22.3-23.3
uncertain significance
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 8q23.1-23.2(chr8:109858221-110567774)x1 copy number loss not provided [RCV001006128] Chr8:109858221..110567774 [GRCh37]
Chr8:8q23.1-23.2
uncertain significance
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 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3123 AgrOrtholog
COSMIC EBAG9 COSMIC
Ensembl Genes ENSG00000147654 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000337675 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379131 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432082 UniProtKB/Swiss-Prot
  ENSP00000434878 UniProtKB/TrEMBL
  ENSP00000435687 UniProtKB/TrEMBL
  ENSP00000435689 UniProtKB/TrEMBL
  ENSP00000437214 UniProtKB/TrEMBL
  ENSP00000477645 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000477734 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000337573 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000395785 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000527709 UniProtKB/TrEMBL
  ENST00000529931 UniProtKB/TrEMBL
  ENST00000530629 UniProtKB/TrEMBL
  ENST00000531677 UniProtKB/Swiss-Prot
  ENST00000534318 UniProtKB/TrEMBL
  ENST00000614147 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000620557 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000147654 GTEx
HGNC ID HGNC:3123 ENTREZGENE
Human Proteome Map EBAG9 Human Proteome Map
InterPro Cancer-assoc_antigen_RCAS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9166 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9166 ENTREZGENE
OMIM 605772 OMIM
PANTHER PTHR15208 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27581 PharmGKB
PIRSF RCAS1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9E0 ENTREZGENE, UniProtKB/TrEMBL
  E9PJ38_HUMAN UniProtKB/TrEMBL
  E9PJ40_HUMAN UniProtKB/TrEMBL
  E9PN10_HUMAN UniProtKB/TrEMBL
  E9PND3_HUMAN UniProtKB/TrEMBL
  O00559 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K3N6 UniProtKB/Swiss-Prot
  Q5Y8C7 UniProtKB/Swiss-Prot
  Q6IB20 UniProtKB/Swiss-Prot
  Q9BS76 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-01-29 EBAG9  estrogen receptor binding site associated antigen 9    estrogen receptor binding site associated, antigen, 9  Symbol and/or name change 5135510 APPROVED
2011-08-16 EBAG9  estrogen receptor binding site associated, antigen, 9  EBAG9  estrogen receptor binding site associated, antigen, 9  Symbol and/or name change 5135510 APPROVED