PRAME (PRAME nuclear receptor transcriptional regulator) - Rat Genome Database

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Gene: PRAME (PRAME nuclear receptor transcriptional regulator) Homo sapiens
Analyze
Symbol: PRAME
Name: PRAME nuclear receptor transcriptional regulator
RGD ID: 1349908
HGNC Page HGNC
Description: Exhibits retinoic acid receptor binding activity. Involved in several processes, including negative regulation of apoptotic process; negative regulation of retinoic acid receptor signaling pathway; and negative regulation of transcription, DNA-templated. Localizes to nucleoplasm and plasma membrane. Implicated in myeloid leukemia. Biomarker of several diseases, including adenocarcinoma (multiple); hematologic cancer (multiple); melanoma (multiple); neuroblastoma; and osteosarcoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: cancer/testis antigen 130; CT130; MAPE; melanoma antigen preferentially expressed in tumors; OIP-4; OIP4; opa-interacting protein 4; Opa-interacting protein OIP4; preferentially expressed antigen in melanoma; preferentially expressed antigen of melanoma
RGD Orthologs
Mouse
Rat
Chinchilla
Dog
Squirrel
Pig
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 Ensembl2222,547,701 - 22,559,361 (-)EnsemblGRCh38hg38GRCh38
GRCh382222,547,701 - 22,559,294 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372222,890,123 - 22,901,672 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362221,220,123 - 21,231,696 (-)NCBINCBI36hg18NCBI36
Build 342221,214,677 - 21,226,104NCBI
Celera226,710,275 - 6,721,853 (-)NCBI
Cytogenetic Map22q11.22NCBI
HuRef225,860,683 - 5,871,798 (-)NCBIHuRef
CHM1_12222,902,166 - 22,913,831 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. De Carvalho DD, etal., Oncogene. 2011 Jan 13;30(2):223-33. doi: 10.1038/onc.2010.409. Epub 2010 Sep 13.
2. Doolan P, etal., Breast Cancer Res Treat. 2008 May;109(2):359-65. Epub 2007 Jul 12.
3. Ercolak V, etal., Acta Haematol. 2015;134(4):199-207.
4. Field MG, etal., Oncotarget. 2016 Jul 30. doi: 10.18632/oncotarget.10962.
5. GOA_HUMAN data from the GO Consortium
6. Huang Q, etal., Med Sci Monit. 2016 May 31;22:1837-42.
7. Ikeda H, etal., Immunity. 1997 Feb;6(2):199-208.
8. Khateeb EE and Morgan D, Open Access Maced J Med Sci. 2015 Mar 15;3(1):57-62. doi: 10.3889/oamjms.2015.001. Epub 2014 Dec 8.
9. Lu D, etal., Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2014 Apr;22(2):370-6. doi: 10.7534/j.issn.1009-2137.2014.02.019.
10. McElwaine S, etal., Br J Haematol. 2004 Jun;125(6):729-42.
11. Oberthuer A, etal., Clin Cancer Res. 2004 Jul 1;10(13):4307-13.
12. Partheen K, etal., Int J Cancer. 2008 Nov 1;123(9):2130-7. doi: 10.1002/ijc.23758.
13. Proto-Siqueira R, etal., Leuk Res. 2006 Nov;30(11):1333-9. Epub 2006 Apr 18.
14. Qin Y, etal., Chin Med J (Engl). 2014;127(9):1666-71.
15. RGD automated import pipeline for gene-chemical interactions
16. Rochette-Egly C and Germain P, Nucl Recept Signal. 2009 May 8;7:e005.
17. Santamaria C, etal., Haematologica. 2008 Dec;93(12):1797-805. doi: 10.3324/haematol.13214. Epub 2008 Sep 24.
18. Tajeddine N, etal., Cancer Res. 2005 Aug 15;65(16):7348-55.
19. Tan P, etal., Biochem Biophys Res Commun. 2012 Mar 23;419(4):801-8. doi: 10.1016/j.bbrc.2012.02.110. Epub 2012 Feb 27.
20. Yao Z, etal., Assay Drug Dev Technol. 2016 Aug;14(6):355-63. doi: 10.1089/adt.2016.724.
21. Zhu ZH, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Apr;27(2):149-52. doi: 10.3760/cma.j.issn.1003-9406.2010.02.007.
Additional References at PubMed
PMID:8889548   PMID:9466265   PMID:9619397   PMID:9751617   PMID:9753074   PMID:10591208   PMID:10682862   PMID:10741395   PMID:11298586   PMID:11943337   PMID:12419593   PMID:12477932  
PMID:12688312   PMID:14667819   PMID:15231747   PMID:15461802   PMID:15489334   PMID:16179254   PMID:16344560   PMID:16681423   PMID:16860864   PMID:16914202   PMID:17382387   PMID:17534929  
PMID:17693191   PMID:18088454   PMID:18088461   PMID:18295331   PMID:18452107   PMID:18587578   PMID:18648365   PMID:18950857   PMID:18988867   PMID:19027161   PMID:19035174   PMID:19473719  
PMID:19474511   PMID:19625708   PMID:20723287   PMID:20805128   PMID:21145461   PMID:21278353   PMID:21347312   PMID:21550659   PMID:21691740   PMID:21822215   PMID:21873635   PMID:21928126  
PMID:22261449   PMID:22384167   PMID:22419371   PMID:22503131   PMID:22658674   PMID:22912744   PMID:23075240   PMID:23110703   PMID:23228130   PMID:23409080   PMID:23444226   PMID:23460923  
PMID:23905893   PMID:24035498   PMID:24600975   PMID:24820636   PMID:25887863   PMID:26186194   PMID:26823776   PMID:26933176   PMID:27049257   PMID:27173435   PMID:27322684   PMID:27391090  
PMID:27441500   PMID:27503909   PMID:27632898   PMID:27993576   PMID:28448663   PMID:28514442   PMID:28634046   PMID:28953414   PMID:29180619   PMID:29439259   PMID:29507755   PMID:29656893  
PMID:29738081   PMID:30045064   PMID:30092184   PMID:30602372   PMID:31065847   PMID:31253590   PMID:31375769   PMID:31485721   PMID:31586073   PMID:31633488   PMID:31659640   PMID:31704819  
PMID:32022332   PMID:32877691  


Genomics

Comparative Map Data
PRAME
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2222,547,701 - 22,559,361 (-)EnsemblGRCh38hg38GRCh38
GRCh382222,547,701 - 22,559,294 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372222,890,123 - 22,901,672 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362221,220,123 - 21,231,696 (-)NCBINCBI36hg18NCBI36
Build 342221,214,677 - 21,226,104NCBI
Celera226,710,275 - 6,721,853 (-)NCBI
Cytogenetic Map22q11.22NCBI
HuRef225,860,683 - 5,871,798 (-)NCBIHuRef
CHM1_12222,902,166 - 22,913,831 (-)NCBICHM1_1
Pramex1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X134,513,662 - 134,528,454 (-)NCBIGRCm39mm39
GRCm39 EnsemblX134,513,751 - 134,528,454 (-)Ensembl
GRCm38X135,612,954 - 135,627,705 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX135,613,002 - 135,627,705 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X132,147,541 - 132,162,244 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X130,959,366 - 130,974,069 (-)NCBImm8
CeleraX118,933,383 - 118,947,983 (-)NCBICelera
Cytogenetic MapXF1NCBI
Prame
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X98,567,994 - 98,574,654 (-)NCBI
Rnor_6.0 EnsemblX106,083,203 - 106,085,878 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X106,082,984 - 106,091,256 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X105,969,013 - 105,977,129 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X122,878,213 - 122,880,888 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX99,586,294 - 99,594,559 (-)NCBICelera
Cytogenetic MapXq32NCBI
Prame
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554556,921,052 - 6,930,537 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554556,921,420 - 6,930,453 (-)NCBIChiLan1.0ChiLan1.0
PRAME
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12627,124,901 - 27,137,772 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2627,124,902 - 27,136,112 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2626,265,762 - 26,278,662 (-)NCBI
ROS_Cfam_1.02628,600,003 - 28,612,908 (-)NCBI
UMICH_Zoey_3.12626,647,621 - 26,660,521 (-)NCBI
UNSW_CanFamBas_1.02626,115,637 - 26,128,532 (-)NCBI
UU_Cfam_GSD_1.02627,276,198 - 27,289,098 (-)NCBI
Prame
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118141,002,184 - 141,027,639 (-)NCBI
SpeTri2.0NW_0049366191,748,337 - 1,751,748 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRAME
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.11448,901,097 - 48,906,855 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Prame
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247478,914,226 - 8,927,648 (-)NCBI

Position Markers
RH70693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372222,890,194 - 22,890,411UniSTSGRCh37
Build 362221,220,194 - 21,220,411RGDNCBI36
Celera226,710,346 - 6,710,563RGD
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map22q11.2UniSTS
HuRef225,860,754 - 5,860,971UniSTS
GeneMap99-GB4 RH Map2245.82UniSTS
PRAME_9364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372222,890,090 - 22,890,967UniSTSGRCh37
Build 362221,220,090 - 21,220,967RGDNCBI36
Celera226,710,242 - 6,711,119RGD
HuRef225,860,650 - 5,861,527UniSTS
RH48178  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372222,890,279 - 22,890,409UniSTSGRCh37
Build 362221,220,279 - 21,220,409RGDNCBI36
Celera226,710,431 - 6,710,561RGD
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map22q11.2UniSTS
HuRef225,860,839 - 5,860,969UniSTS
GeneMap99-GB4 RH Map2245.82UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR211hsa-miR-211-5pOncomiRDBexternal_infoNANA21687938

Predicted Target Of
Summary Value
Count of predictions:2665
Count of miRNA genes:796
Interacting mature miRNAs:939
Transcripts:ENST00000398741, ENST00000398743, ENST00000402697, ENST00000403441, ENST00000405655, ENST00000406503, ENST00000420709, ENST00000424204, ENST00000438888, ENST00000439106, ENST00000442481, ENST00000476336, ENST00000485532, ENST00000492657, ENST00000539862, ENST00000543184
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 1 1 5
Medium 41 1 44 27 78 29 108 38 30 78 628 160 3 1 4
Low 127 61 355 40 284 38 149 33 234 188 235 92 3 22 100 2
Below cutoff 2014 2557 1034 373 1343 221 3607 1878 3147 91 505 1133 155 1042 2429 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_000002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_206956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC246793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF025440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI613210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM015464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ432004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU151249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF121110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB024053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC395455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ511981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ511982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ511983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ511984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ511985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U65011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000398741   ⟹   ENSP00000381726
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2222,547,702 - 22,559,143 (-)Ensembl
RefSeq Acc Id: ENST00000398743   ⟹   ENSP00000381728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2222,547,701 - 22,559,340 (-)Ensembl
RefSeq Acc Id: ENST00000402697   ⟹   ENSP00000385198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2222,547,767 - 22,559,288 (-)Ensembl
RefSeq Acc Id: ENST00000403441   ⟹   ENSP00000385091
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2222,550,852 - 22,557,754 (-)Ensembl
RefSeq Acc Id: ENST00000405655   ⟹   ENSP00000384343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2222,547,701 - 22,559,265 (-)Ensembl
RefSeq Acc Id: ENST00000406503   ⟹   ENSP00000384058
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2222,550,754 - 22,559,267 (-)Ensembl
RefSeq Acc Id: ENST00000420709   ⟹   ENSP00000412318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2222,550,221 - 22,559,083 (-)Ensembl
RefSeq Acc Id: ENST00000438888   ⟹   ENSP00000407121
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2222,550,183 - 22,555,926 (-)Ensembl
RefSeq Acc Id: ENST00000439106   ⟹   ENSP00000407320
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2222,550,074 - 22,559,279 (-)Ensembl
RefSeq Acc Id: ENST00000442481   ⟹   ENSP00000399816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2222,550,819 - 22,557,592 (-)Ensembl
RefSeq Acc Id: ENST00000476336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2222,550,246 - 22,557,721 (-)Ensembl
RefSeq Acc Id: ENST00000485532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2222,550,299 - 22,554,179 (-)Ensembl
RefSeq Acc Id: ENST00000492657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2222,547,701 - 22,559,361 (-)Ensembl
RefSeq Acc Id: ENST00000543184   ⟹   ENSP00000445675
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2222,547,702 - 22,559,289 (-)Ensembl
RefSeq Acc Id: NM_001291715   ⟹   NP_001278644
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,547,701 - 22,557,632 (-)NCBI
CHM1_12222,902,166 - 22,912,224 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001291716   ⟹   NP_001278645
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,547,701 - 22,557,632 (-)NCBI
CHM1_12222,902,166 - 22,912,224 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001291717   ⟹   NP_001278646
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,547,701 - 22,559,265 (-)NCBI
CHM1_12222,902,166 - 22,913,831 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001291719   ⟹   NP_001278648
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,547,701 - 22,557,632 (-)NCBI
CHM1_12222,902,166 - 22,912,224 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318126   ⟹   NP_001305055
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,547,701 - 22,555,926 (-)NCBI
CHM1_12222,902,166 - 22,910,396 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318127   ⟹   NP_001305056
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,547,701 - 22,554,182 (-)NCBI
CHM1_12222,902,166 - 22,908,652 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006115   ⟹   NP_006106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,547,701 - 22,559,265 (-)NCBI
GRCh372222,890,123 - 22,901,696 (-)NCBI
Build 362221,220,123 - 21,231,696 (-)NCBI Archive
HuRef225,860,683 - 5,871,798 (-)ENTREZGENE
CHM1_12222,902,166 - 22,913,831 (-)NCBI
Sequence:
RefSeq Acc Id: NM_206953   ⟹   NP_996836
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,547,701 - 22,559,265 (-)NCBI
GRCh372222,890,123 - 22,901,696 (-)ENTREZGENE
Build 362221,220,123 - 21,231,696 (-)NCBI Archive
HuRef225,860,683 - 5,871,798 (-)ENTREZGENE
CHM1_12222,902,166 - 22,913,831 (-)NCBI
Sequence:
RefSeq Acc Id: NM_206954   ⟹   NP_996837
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,547,701 - 22,559,265 (-)NCBI
GRCh372222,890,123 - 22,901,696 (-)NCBI
Build 362221,220,123 - 21,231,696 (-)NCBI Archive
HuRef225,860,683 - 5,871,798 (-)ENTREZGENE
CHM1_12222,902,166 - 22,913,831 (-)NCBI
Sequence:
RefSeq Acc Id: NM_206955   ⟹   NP_996838
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,547,701 - 22,559,265 (-)NCBI
GRCh372222,890,123 - 22,901,696 (-)ENTREZGENE
Build 362221,220,123 - 21,231,550 (-)NCBI Archive
HuRef225,860,683 - 5,871,798 (-)ENTREZGENE
CHM1_12222,902,166 - 22,913,831 (-)NCBI
Sequence:
RefSeq Acc Id: NM_206956   ⟹   NP_996839
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,547,701 - 22,559,265 (-)NCBI
GRCh372222,890,123 - 22,901,696 (-)ENTREZGENE
Build 362221,220,123 - 21,231,550 (-)NCBI Archive
HuRef225,860,683 - 5,871,798 (-)ENTREZGENE
CHM1_12222,902,166 - 22,913,831 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530034   ⟹   XP_011528336
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,547,701 - 22,559,294 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001278644 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278645 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278646 (Get FASTA)   NCBI Sequence Viewer  
  NP_001278648 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305055 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305056 (Get FASTA)   NCBI Sequence Viewer  
  NP_006106 (Get FASTA)   NCBI Sequence Viewer  
  NP_996836 (Get FASTA)   NCBI Sequence Viewer  
  NP_996837 (Get FASTA)   NCBI Sequence Viewer  
  NP_996838 (Get FASTA)   NCBI Sequence Viewer  
  NP_996839 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528336 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC39560 (Get FASTA)   NCBI Sequence Viewer  
  AAC51160 (Get FASTA)   NCBI Sequence Viewer  
  AAH14074 (Get FASTA)   NCBI Sequence Viewer  
  AAH22008 (Get FASTA)   NCBI Sequence Viewer  
  AAH39731 (Get FASTA)   NCBI Sequence Viewer  
  AFX65483 (Get FASTA)   NCBI Sequence Viewer  
  AFX65484 (Get FASTA)   NCBI Sequence Viewer  
  AFX65485 (Get FASTA)   NCBI Sequence Viewer  
  AFX65486 (Get FASTA)   NCBI Sequence Viewer  
  AFX65487 (Get FASTA)   NCBI Sequence Viewer  
  BAG35634 (Get FASTA)   NCBI Sequence Viewer  
  BAH13644 (Get FASTA)   NCBI Sequence Viewer  
  BAH14222 (Get FASTA)   NCBI Sequence Viewer  
  BAH14766 (Get FASTA)   NCBI Sequence Viewer  
  CAG30435 (Get FASTA)   NCBI Sequence Viewer  
  EAW59518 (Get FASTA)   NCBI Sequence Viewer  
  EAW59519 (Get FASTA)   NCBI Sequence Viewer  
  EAW59520 (Get FASTA)   NCBI Sequence Viewer  
  EAW59521 (Get FASTA)   NCBI Sequence Viewer  
  EAW59522 (Get FASTA)   NCBI Sequence Viewer  
  EAW59523 (Get FASTA)   NCBI Sequence Viewer  
  P78395 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_996837   ⟸   NM_206954
- Peptide Label: isoform a
- UniProtKB: P78395 (UniProtKB/Swiss-Prot),   A0A024R1E6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006106   ⟸   NM_006115
- Peptide Label: isoform a
- UniProtKB: P78395 (UniProtKB/Swiss-Prot),   A0A024R1E6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_996836   ⟸   NM_206953
- Peptide Label: isoform a
- UniProtKB: P78395 (UniProtKB/Swiss-Prot),   A0A024R1E6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_996839   ⟸   NM_206956
- Peptide Label: isoform a
- UniProtKB: P78395 (UniProtKB/Swiss-Prot),   A0A024R1E6 (UniProtKB/TrEMBL),   B7Z986 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_996838   ⟸   NM_206955
- Peptide Label: isoform a
- UniProtKB: P78395 (UniProtKB/Swiss-Prot),   A0A024R1E6 (UniProtKB/TrEMBL),   B7Z986 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278646   ⟸   NM_001291717
- Peptide Label: isoform b
- UniProtKB: P78395 (UniProtKB/Swiss-Prot),   B7Z986 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278648   ⟸   NM_001291719
- Peptide Label: isoform b
- UniProtKB: P78395 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001278645   ⟸   NM_001291716
- Peptide Label: isoform a
- UniProtKB: P78395 (UniProtKB/Swiss-Prot),   A0A024R1E6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278644   ⟸   NM_001291715
- Peptide Label: isoform a
- UniProtKB: P78395 (UniProtKB/Swiss-Prot),   A0A024R1E6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528336   ⟸   XM_011530034
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001305055   ⟸   NM_001318126
- Peptide Label: isoform b
- UniProtKB: P78395 (UniProtKB/Swiss-Prot),   B7ZAT0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305056   ⟸   NM_001318127
- Peptide Label: isoform b
- UniProtKB: P78395 (UniProtKB/Swiss-Prot),   B7Z7K8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000381726   ⟸   ENST00000398741
RefSeq Acc Id: ENSP00000381728   ⟸   ENST00000398743
RefSeq Acc Id: ENSP00000407121   ⟸   ENST00000438888
RefSeq Acc Id: ENSP00000407320   ⟸   ENST00000439106
RefSeq Acc Id: ENSP00000445675   ⟸   ENST00000543184
RefSeq Acc Id: ENSP00000385198   ⟸   ENST00000402697
RefSeq Acc Id: ENSP00000385091   ⟸   ENST00000403441
RefSeq Acc Id: ENSP00000399816   ⟸   ENST00000442481
RefSeq Acc Id: ENSP00000384343   ⟸   ENST00000405655
RefSeq Acc Id: ENSP00000384058   ⟸   ENST00000406503
RefSeq Acc Id: ENSP00000412318   ⟸   ENST00000420709

Promoters
RGD ID:6800255
Promoter ID:HG_KWN:41844
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000321654
Position:
Human AssemblyChrPosition (strand)Source
Build 362221,226,766 - 21,227,467 (-)MPROMDB
RGD ID:6800254
Promoter ID:HG_KWN:41845
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000321653
Position:
Human AssemblyChrPosition (strand)Source
Build 362221,227,866 - 21,228,366 (-)MPROMDB
RGD ID:6800260
Promoter ID:HG_KWN:41846
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ENST00000403441,   OTTHUMT00000321651,   OTTHUMT00000321652,   UC002ZWF.1,   UC010GTR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362221,229,666 - 21,230,166 (-)MPROMDB
RGD ID:6800256
Promoter ID:HG_KWN:41847
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat,   K562,   NB4
Transcripts:ENST00000406503,   NM_206954,   NM_206955,   NM_206956,   OTTHUMT00000321642,   OTTHUMT00000321643,   OTTHUMT00000321646,   OTTHUMT00000321648,   OTTHUMT00000321649
Position:
Human AssemblyChrPosition (strand)Source
Build 362221,231,404 - 21,231,904 (-)MPROMDB
RGD ID:6852904
Promoter ID:EP74270
Type:initiation region
Name:HS_PRAME
Description:Preferentially expressed antigen in melanoma.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 362221,231,644 - 21,231,704EPD
RGD ID:13603376
Promoter ID:EPDNEW_H27872
Type:initiation region
Name:PRAME_2
Description:preferentially expressed antigen in melanoma
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27873  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,559,025 - 22,559,085EPDNEW
RGD ID:13603378
Promoter ID:EPDNEW_H27873
Type:initiation region
Name:PRAME_1
Description:preferentially expressed antigen in melanoma
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27872  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382222,559,263 - 22,559,323EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22562663)x1 copy number loss See cases [RCV000051017] Chr22:21151069..22562663 [GRCh38]
Chr22:21505358..22905068 [GRCh37]
Chr22:19835358..21235068 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21603122-22562663)x1 copy number loss See cases [RCV000051147] Chr22:21603122..22562663 [GRCh38]
Chr22:21957411..22905068 [GRCh37]
Chr22:20287411..21235068 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 copy number loss See cases [RCV000053082] Chr22:21454661..22562663 [GRCh38]
Chr22:21808950..22905068 [GRCh37]
Chr22:20138950..21235068 [NCBI36]
Chr22:22q11.21-11.22
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|See cases [RCV000053084] Chr22:21454661..24197852 [GRCh38]
Chr22:21808950..24593820 [GRCh37]
Chr22:20138950..22923820 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23301036)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053085]|See cases [RCV000053085] Chr22:21454661..23301036 [GRCh38]
Chr22:21808950..23643223 [GRCh37]
Chr22:20138950..21973223 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 copy number loss See cases [RCV000053087] Chr22:21457690..24220231 [GRCh38]
Chr22:21811979..24616199 [GRCh37]
Chr22:20141979..22946199 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1 copy number loss See cases [RCV000053090] Chr22:21562911..24307688 [GRCh38]
Chr22:21917200..24703656 [GRCh37]
Chr22:20247200..23033656 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21623411-22617259)x1 copy number loss See cases [RCV000053107] Chr22:21623411..22617259 [GRCh38]
Chr22:21977700..22959729 [GRCh37]
Chr22:20307700..21289729 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21623411-23315617)x1 copy number loss See cases [RCV000053108] Chr22:21623411..23315617 [GRCh38]
Chr22:21977700..23657804 [GRCh37]
Chr22:20307700..21987804 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726772-23135971)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053061]|See cases [RCV000053061] Chr22:20726772..23135971 [GRCh38]
Chr22:21081060..23478158 [GRCh37]
Chr22:19411060..21808158 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21150869-22562804)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053157]|See cases [RCV000053157] Chr22:21150869..22562804 [GRCh38]
Chr22:21505158..22905209 [GRCh37]
Chr22:19835158..21235209 [NCBI36]
Chr22:22q11.21-11.22
uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21386914-23305976)x3 copy number gain See cases [RCV000053158] Chr22:21386914..23305976 [GRCh38]
Chr22:21741203..23648163 [GRCh37]
Chr22:20071203..21978163 [NCBI36]
Chr22:22q11.21-11.23
pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 copy number gain See cases [RCV000053159] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.22(chr22:21623411-22651271)x3 copy number gain See cases [RCV000053160] Chr22:21623411..22651271 [GRCh38]
Chr22:21977700..22993741 [GRCh37]
Chr22:20307700..21323741 [NCBI36]
Chr22:22q11.21-11.22
pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1 copy number loss See cases [RCV000053074] Chr22:21443815..24235645 [GRCh38]
Chr22:21798104..24631613 [GRCh37]
Chr22:20128104..22961613 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21443815-23397298)x1 copy number loss See cases [RCV000053075] Chr22:21443815..23397298 [GRCh38]
Chr22:21798104..23739485 [GRCh37]
Chr22:20128104..22069485 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1 copy number loss See cases [RCV000053077] Chr22:21454461..24247296 [GRCh38]
Chr22:21808750..24643264 [GRCh37]
Chr22:20138750..22973264 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|See cases [RCV000053079] Chr22:21454661..24289119 [GRCh38]
Chr22:21808950..24685087 [GRCh37]
Chr22:20138950..23015087 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q11.22(chr22:22374043-22886630)x1 copy number loss See cases [RCV000135086] Chr22:22374043..22886630 [GRCh38]
Chr22:22728411..23228810 [GRCh37]
Chr22:21058411..21558810 [NCBI36]
Chr22:22q11.22
benign
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x1 copy number loss See cases [RCV000135739] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x3 copy number gain See cases [RCV000136016] Chr22:21454649..22562620 [GRCh38]
Chr22:21808938..22905025 [GRCh37]
Chr22:20138938..21235025 [NCBI36]
Chr22:22q11.21-11.22
pathogenic|uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454649-22562620)x1 copy number loss See cases [RCV000136017] Chr22:21454649..22562620 [GRCh38]
Chr22:21808938..22905025 [GRCh37]
Chr22:20138938..21235025 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 copy number loss See cases [RCV000136889] Chr22:20726972..24197852 [GRCh38]
Chr22:21081260..24593820 [GRCh37]
Chr22:19411260..22923820 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21444416-22574173)x1 copy number loss See cases [RCV000136776] Chr22:21444416..22574173 [GRCh38]
Chr22:21798705..22916612 [GRCh37]
Chr22:20128705..21246612 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1 copy number loss See cases [RCV000137685] Chr22:21454661..24247140 [GRCh38]
Chr22:21808950..24643108 [GRCh37]
Chr22:20138950..22973108 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x3 copy number gain See cases [RCV000137493] Chr22:21151069..22617194 [GRCh38]
Chr22:21505358..22959664 [GRCh37]
Chr22:19835358..21289664 [NCBI36]
Chr22:22q11.21-11.22
uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21151069-22617194)x1 copy number loss See cases [RCV000137494] Chr22:21151069..22617194 [GRCh38]
Chr22:21505358..22959664 [GRCh37]
Chr22:19835358..21289664 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23312035)x1 copy number loss See cases [RCV000137767] Chr22:21454661..23312035 [GRCh38]
Chr22:21808950..23654222 [GRCh37]
Chr22:20138950..21984222 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 copy number gain See cases [RCV000138673] Chr22:21207181..24247140 [GRCh38]
Chr22:21561470..24643108 [GRCh37]
Chr22:19891470..22973108 [NCBI36]
Chr22:22q11.21-11.23
uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:18178932-22562620)x3 copy number gain See cases [RCV000139316] Chr22:18178932..22562620 [GRCh38]
Chr22:18661699..22905025 [GRCh37]
Chr22:17041699..21235025 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21151097-22562620)x1 copy number loss See cases [RCV000139333] Chr22:21151097..22562620 [GRCh38]
Chr22:21505386..22905025 [GRCh37]
Chr22:19835386..21235025 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21583391-22647760)x3 copy number gain See cases [RCV000140091] Chr22:21583391..22647760 [GRCh38]
Chr22:21937680..22990230 [GRCh37]
Chr22:20267680..21320230 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:18339130-23480799)x1 copy number loss See cases [RCV000141233] Chr22:18339130..23480799 [GRCh38]
Chr22:20279766..23822986 [GRCh37]
Chr22:18659766..22152986 [NCBI36]
Chr22:22q11.21-11.23
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21447344-22655838)x1 copy number loss See cases [RCV000141561] Chr22:21447344..22655838 [GRCh38]
Chr22:21801633..22998308 [GRCh37]
Chr22:20131633..21328308 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22617194)x1 copy number loss See cases [RCV000143267] Chr22:21454661..22617194 [GRCh38]
Chr22:21808950..22959664 [GRCh37]
Chr22:20138950..21289664 [NCBI36]
Chr22:22q11.21-11.22
pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21454661-23414686)x3 copy number gain See cases [RCV000148078] Chr22:21454661..23414686 [GRCh38]
Chr22:21808950..23756873 [GRCh37]
Chr22:20138950..22086873 [NCBI36]
Chr22:22q11.21-11.23
uncertain significance
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1 copy number loss See cases [RCV000148145] Chr22:21454661..22562663 [GRCh38]
Chr22:21808950..22905068 [GRCh37]
Chr22:20138950..21235068 [NCBI36]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20749625-23972878)x1 copy number loss See cases [RCV000240250] Chr22:20749625..23972878 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21923858-22963000)x1 copy number loss See cases [RCV000240088] Chr22:21923858..22963000 [GRCh37]
Chr22:22q11.21-11.22
likely pathogenic
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1
benign
GRCh37/hg19 22q11.21-11.23(chr22:21400683-23654222)x3 copy number gain See cases [RCV000240040] Chr22:21400683..23654222 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21923858-23025727)x3 copy number gain See cases [RCV000240579] Chr22:21923858..23025727 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.1-11.22(chr22:17264511-23238029)x3 copy number gain See cases [RCV000240483] Chr22:17264511..23238029 [GRCh37]
Chr22:22q11.1-11.22
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804562-24659578)x3 copy number gain See cases [RCV000445928] Chr22:21804562..24659578 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21798906-22997928)x1 copy number loss See cases [RCV000448269] Chr22:21798906..22997928 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-11.23(chr22:16888899-23723805)x3 copy number gain See cases [RCV000448224] Chr22:16888899..23723805 [GRCh37]
Chr22:22q11.1-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804562-23781918)x3 copy number gain See cases [RCV000510372] Chr22:21804562..23781918 [GRCh37]
Chr22:22q11.21-11.23
uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962196)x1 copy number loss See cases [RCV000510228] Chr22:21798907..22962196 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 copy number gain See cases [RCV000510487] Chr22:21798907..24963935 [GRCh37]
Chr22:22q11.21-11.23
uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798907-23666232)x1 copy number loss See cases [RCV000511441] Chr22:21798907..23666232 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21798907-22962962)x1 copy number loss See cases [RCV000511924] Chr22:21798907..22962962 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21800796-22998050)x3 copy number gain See cases [RCV000510925] Chr22:21800796..22998050 [GRCh37]
Chr22:22q11.21-11.22
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23804835)x1 copy number loss not provided [RCV000684507] Chr22:21465661..23804835 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20716876-23819697)x1 copy number loss not provided [RCV000684515] Chr22:20716876..23819697 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1 copy number loss not provided [RCV000684518] Chr22:21465661..24653491 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1 copy number loss not provided [RCV000684520] Chr22:21465661..24885806 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21804562-22962962)x3 copy number gain not provided [RCV000684491] Chr22:21804562..22962962 [GRCh37]
Chr22:22q11.21-11.22
uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21800470-22962196)x1 copy number loss not provided [RCV000684492] Chr22:21800470..22962196 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21465661-22962196)x1 copy number loss not provided [RCV000684499] Chr22:21465661..22962196 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23810042)x1 copy number loss not provided [RCV000846294] Chr22:21465661..23810042 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21689086-22979897)x1 copy number loss not provided [RCV000741779] Chr22:21689086..22979897 [GRCh37]
Chr22:22q11.21-11.22
uncertain significance
GRCh37/hg19 22q11.21-11.22(chr22:21910280-22972396)x1 copy number loss not provided [RCV000741784] Chr22:21910280..22972396 [GRCh37]
Chr22:22q11.21-11.22
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_206956.3(PRAME):c.611A>G (p.Asn204Ser) single nucleotide variant not provided [RCV000964090] Chr22:22550068 [GRCh38]
Chr22:22892490 [GRCh37]
Chr22:22q11.22
benign
NM_206956.3(PRAME):c.766C>T (p.Leu256=) single nucleotide variant not provided [RCV000959649] Chr22:22549913 [GRCh38]
Chr22:22892335 [GRCh37]
Chr22:22q11.22
benign
GRCh37/hg19 22q11.21-11.22(chr22:21800032-23237674) copy number gain not provided [RCV000767631] Chr22:21800032..23237674 [GRCh37]
Chr22:22q11.21-11.22
likely pathogenic
GRCh37/hg19 22q11.22(chr22:22255329-23321856) copy number gain not provided [RCV000767632] Chr22:22255329..23321856 [GRCh37]
Chr22:22q11.22
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313) copy number loss Chromosome 22q11.2 deletion syndrome, distal [RCV000767634] Chr22:21797384..23630313 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
NC_000022.10:g.21808950_22963000del1154051 deletion Chromosome 22q11.2 deletion syndrome, distal [RCV000785668] Chr22:21808950..22963000 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21798906-23666232)x1 copy number loss not provided [RCV000849290] Chr22:21798906..23666232 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21979096-22941426)x3 copy number gain See cases [RCV001194531] Chr22:21979096..22941426 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21922619-23654064)x1 copy number loss not provided [RCV000848992] Chr22:21922619..23654064 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.21-11.22(chr22:21947428-22962196)x1 copy number loss not provided [RCV001007497] Chr22:21947428..22962196 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del deletion Chromosome 22q11.2 deletion syndrome, distal [RCV001199824] Chr22:21914652..22922798 [GRCh37]
Chr22:22q11.21-11.22
pathogenic
NM_206956.3(PRAME):c.1263T>C (p.Ser421=) single nucleotide variant not provided [RCV000958178] Chr22:22548334 [GRCh38]
Chr22:22890756 [GRCh37]
Chr22:22q11.22
benign
GRCh37/hg19 22q11.21-11.23(chr22:21465661-23666232)x3 copy number gain not provided [RCV001007496] Chr22:21465661..23666232 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
Single allele deletion DiGeorge Syndrome [RCV001003853] Chr22:18475385..23764120 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22898364-23653963)x3 copy number gain not provided [RCV001258775] Chr22:22898364..23653963 [GRCh37]
Chr22:22q11.22-11.23
uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798906-23805099)x1 copy number loss not provided [RCV001259986] Chr22:21798906..23805099 [GRCh37]
Chr22:22q11.21-11.23
pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9336 AgrOrtholog
COSMIC PRAME COSMIC
Ensembl Genes ENSG00000185686 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000275013 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000381726 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000381728 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384058 UniProtKB/TrEMBL
  ENSP00000384343 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385091 UniProtKB/TrEMBL
  ENSP00000385198 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000399816 UniProtKB/TrEMBL
  ENSP00000407121 UniProtKB/TrEMBL
  ENSP00000407320 UniProtKB/TrEMBL
  ENSP00000412318 UniProtKB/TrEMBL
  ENSP00000445097 UniProtKB/Swiss-Prot
  ENSP00000445675 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000484066 UniProtKB/Swiss-Prot
  ENSP00000485726 UniProtKB/TrEMBL
  ENSP00000486222 UniProtKB/TrEMBL
  ENSP00000486330 UniProtKB/Swiss-Prot
  ENSP00000486485 UniProtKB/Swiss-Prot
  ENSP00000486910 UniProtKB/TrEMBL
  ENSP00000487167 UniProtKB/TrEMBL
  ENSP00000487168 UniProtKB/TrEMBL
Ensembl Transcript ENST00000398741 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000398743 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000402697 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000403441 UniProtKB/TrEMBL
  ENST00000405655 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000406503 UniProtKB/TrEMBL
  ENST00000420709 UniProtKB/TrEMBL
  ENST00000438888 UniProtKB/TrEMBL
  ENST00000439106 UniProtKB/TrEMBL
  ENST00000442481 UniProtKB/TrEMBL
  ENST00000539862 UniProtKB/Swiss-Prot
  ENST00000543184 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000617728 UniProtKB/Swiss-Prot
  ENST00000626503 UniProtKB/Swiss-Prot
  ENST00000626772 UniProtKB/TrEMBL
  ENST00000627660 UniProtKB/TrEMBL
  ENST00000628830 UniProtKB/Swiss-Prot
  ENST00000630407 UniProtKB/TrEMBL
  ENST00000630573 UniProtKB/TrEMBL
  ENST00000631267 UniProtKB/TrEMBL
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185686 GTEx
  ENSG00000275013 GTEx
HGNC ID HGNC:9336 ENTREZGENE
Human Proteome Map PRAME Human Proteome Map
InterPro LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRAME_family UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23532 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23532 ENTREZGENE
OMIM 606021 OMIM
PharmGKB PA33698 PharmGKB
PIRSF PRAME UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R1E6 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2JRX7_HUMAN UniProtKB/TrEMBL
  A0A0G2JRX8_HUMAN UniProtKB/TrEMBL
  B5MCY4_HUMAN UniProtKB/TrEMBL
  B5MD04_HUMAN UniProtKB/TrEMBL
  B7Z7K8 ENTREZGENE, UniProtKB/TrEMBL
  B7Z986 ENTREZGENE, UniProtKB/TrEMBL
  B7ZAT0 ENTREZGENE, UniProtKB/TrEMBL
  E7EMH2_HUMAN UniProtKB/TrEMBL
  E7EW99_HUMAN UniProtKB/TrEMBL
  F8WF80_HUMAN UniProtKB/TrEMBL
  H7C2P3_HUMAN UniProtKB/TrEMBL
  P78395 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R6Y7 UniProtKB/Swiss-Prot
  O43481 UniProtKB/Swiss-Prot
  Q8IXN8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-05-25 PRAME  PRAME nuclear receptor transcriptional regulator  PRAME  preferentially expressed antigen in melanoma  Symbol and/or name change 19259463 PROVISIONAL