PRDM9 (PR/SET domain 9) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: PRDM9 (PR/SET domain 9) Homo sapiens
Analyze
Symbol: PRDM9
Name: PR/SET domain 9
RGD ID: 1349245
HGNC Page HGNC
Description: Exhibits DNA binding activity and histone-lysine N-methyltransferase activity. Involved in several processes, including histone lysine methylation; nucleosome positioning; and positive regulation of organelle organization. Predicted to localize to chromatin and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: [histone H3]-lysine36 N-trimethyltransferase PRDM9; [histone H3]-lysine4 N-trimethyltransferase PRDM9; [histone H3]-lysine9 N-trimethyltransferase PRDM9; [histone H4]-lysine20 N-methyltransferase PRDM9; [histone H4]-N-methyl-L-lysine20 N-methyltransferase PRDM9; histone methyl transferase; histone-lysine N-methyltransferase PRDM9; KMT8B; MEISETZ; minisatellite binding protein 3 (115kD); minisatellite binding protein 3, 115kDa; MSBP3; PFM6; PR domain 9; PR domain containing 9; PR domain zinc finger protein 9; PR domain-containing protein 9; PR-domain containing protein 9; PRMD9; protein-lysine N-methyltransferase PRDM9; ZNF899
RGD Orthologs
Mouse
Rat
Bonobo
Green Monkey
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 Ensembl523,443,586 - 23,528,093 (+)EnsemblGRCh38hg38GRCh38
GRCh38523,507,155 - 23,528,093 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37523,507,264 - 23,528,202 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36523,543,481 - 23,564,463 (+)NCBINCBI36hg18NCBI36
Build 34523,558,478 - 23,564,463NCBI
Celera523,396,917 - 23,417,900 (+)NCBI
Cytogenetic Map5p14.2NCBI
HuRef523,474,996 - 23,495,995 (+)NCBIHuRef
CHM1_1523,507,786 - 23,528,212 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromatin  (ISO)
chromosome  (IEA)
nucleoplasm  (TAS)
nucleus  (IBA,IEA,ISS)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:2062643   PMID:10668202   PMID:14675547   PMID:18231586   PMID:18941885   PMID:19168450   PMID:20041164   PMID:20044538   PMID:20044539   PMID:20044541   PMID:20818382   PMID:20981099  
PMID:21750151   PMID:21775986   PMID:21873635   PMID:22162947   PMID:22643917   PMID:23222848   PMID:23267059   PMID:24095733   PMID:24136506   PMID:24634223   PMID:24754746   PMID:24981860  
PMID:25001002   PMID:25393762   PMID:25395542   PMID:26368021   PMID:26833727   PMID:26840484   PMID:27045445   PMID:28059126   PMID:28801461   PMID:29072575   PMID:29366606   PMID:30021884  
PMID:30161134   PMID:30311566   PMID:30341163   PMID:32744506  


Genomics

Comparative Map Data
PRDM9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl523,443,586 - 23,528,093 (+)EnsemblGRCh38hg38GRCh38
GRCh38523,507,155 - 23,528,093 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37523,507,264 - 23,528,202 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36523,543,481 - 23,564,463 (+)NCBINCBI36hg18NCBI36
Build 34523,558,478 - 23,564,463NCBI
Celera523,396,917 - 23,417,900 (+)NCBI
Cytogenetic Map5p14.2NCBI
HuRef523,474,996 - 23,495,995 (+)NCBIHuRef
CHM1_1523,507,786 - 23,528,212 (+)NCBICHM1_1
Prdm9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391715,763,334 - 15,784,636 (-)NCBIGRCm39mm39
GRCm39 Ensembl1715,763,341 - 15,784,616 (-)Ensembl
GRCm381715,543,072 - 15,564,374 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1715,543,079 - 15,564,354 (-)EnsemblGRCm38mm10GRCm38
MGSCv371715,680,043 - 15,700,287 (-)NCBIGRCm37mm9NCBIm37
MGSCv361715,257,958 - 15,269,069 (-)NCBImm8
Celera1716,328,380 - 16,348,750 (-)NCBICelera
Cytogenetic Map17A2NCBI
Prdm9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2156,505,579 - 56,525,726 (-)NCBI
Rnor_6.0 Ensembl157,533,577 - 57,555,048 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0157,533,602 - 57,555,155 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0158,463,710 - 58,484,066 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4154,444,598 - 54,452,679 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1154,435,819 - 54,455,624 (-)NCBI
Celera152,710,859 - 52,730,930 (-)NCBICelera
Cytogenetic Map1q12NCBI
PRDM9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1592,377,523 - 92,395,930 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl592,377,523 - 92,395,486 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0586,847,131 - 86,856,802 (-)NCBIMhudiblu_PPA_v0panPan3
PRDM9
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1422,902,119 - 22,922,193 (+)NCBI
Vero_WHO_p1.0NW_0236660645,471,165 - 5,488,370 (-)NCBI

Position Markers
L28288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37523,513,436 - 23,513,542UniSTSGRCh37
Build 36523,549,193 - 23,549,299RGDNCBI36
Celera523,402,629 - 23,402,735RGD
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5p14UniSTS
HuRef523,480,600 - 23,480,706UniSTS
HuRef1675,829,748 - 75,829,854UniSTS
PRDM9_3659  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37523,528,072 - 23,528,868UniSTSGRCh37
Build 36523,563,829 - 23,564,625RGDNCBI36
Celera523,417,266 - 23,418,062RGD
HuRef523,495,361 - 23,496,157UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:545
Count of miRNA genes:446
Interacting mature miRNAs:486
Transcripts:ENST00000296682, ENST00000502755
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 4 23 2
Low 7 7 5 9 6 3 1 4 1 367 24 1
Below cutoff 222 188 288 130 109 120 334 180 434 61 176 177 14 76 178 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001310214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001376900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC025451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF275816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB636359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ388610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ899912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU183914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU183915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU183916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU183917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU183918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU183919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU216222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU216223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU216224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU216225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU216227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU216228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU216229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM210999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM211001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM211002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM211003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM211004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM211005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM211006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ044371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ044372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ044373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ044374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ044375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ044376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ044377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ771777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF475787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF475788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF475789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF475790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF475791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF475792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF475793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF475794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU721982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU721983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU721984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU721987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU721989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU721991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU886571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU886573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW814872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW814873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW814874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MW814875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000296682   ⟹   ENSP00000296682
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl523,507,609 - 23,528,093 (+)Ensembl
RefSeq Acc Id: ENST00000502755   ⟹   ENSP00000425471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl523,507,155 - 23,510,027 (+)Ensembl
RefSeq Acc Id: ENST00000635252   ⟹   ENSP00000489227
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl523,443,586 - 23,526,498 (+)Ensembl
RefSeq Acc Id: NM_001376900   ⟹   NP_001363829
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38523,507,155 - 23,528,093 (+)NCBI
RefSeq Acc Id: NM_020227   ⟹   NP_064612
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38523,507,609 - 23,528,093 (+)NCBI
GRCh37523,507,724 - 23,528,706 (+)ENTREZGENE
Build 36523,543,481 - 23,564,463 (+)NCBI Archive
HuRef523,474,996 - 23,495,995 (+)ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_001297143 (Get FASTA)   NCBI Sequence Viewer  
  NP_001363829 (Get FASTA)   NCBI Sequence Viewer  
  NP_064612 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF87242 (Get FASTA)   NCBI Sequence Viewer  
  ABD47939 (Get FASTA)   NCBI Sequence Viewer  
  ADA68123 (Get FASTA)   NCBI Sequence Viewer  
  ADA68124 (Get FASTA)   NCBI Sequence Viewer  
  ADA68125 (Get FASTA)   NCBI Sequence Viewer  
  ADA68126 (Get FASTA)   NCBI Sequence Viewer  
  ADA68127 (Get FASTA)   NCBI Sequence Viewer  
  ADA68128 (Get FASTA)   NCBI Sequence Viewer  
  ADA68129 (Get FASTA)   NCBI Sequence Viewer  
  ADA68130 (Get FASTA)   NCBI Sequence Viewer  
  ADA68131 (Get FASTA)   NCBI Sequence Viewer  
  ADA68132 (Get FASTA)   NCBI Sequence Viewer  
  ADA68133 (Get FASTA)   NCBI Sequence Viewer  
  ADA68134 (Get FASTA)   NCBI Sequence Viewer  
  ADA68135 (Get FASTA)   NCBI Sequence Viewer  
  ADA68136 (Get FASTA)   NCBI Sequence Viewer  
  ADA68137 (Get FASTA)   NCBI Sequence Viewer  
  ADA68138 (Get FASTA)   NCBI Sequence Viewer  
  ADA68139 (Get FASTA)   NCBI Sequence Viewer  
  ADA68140 (Get FASTA)   NCBI Sequence Viewer  
  ADA68141 (Get FASTA)   NCBI Sequence Viewer  
  ADA68142 (Get FASTA)   NCBI Sequence Viewer  
  ADA68143 (Get FASTA)   NCBI Sequence Viewer  
  ADA68144 (Get FASTA)   NCBI Sequence Viewer  
  ADA68145 (Get FASTA)   NCBI Sequence Viewer  
  ADA68146 (Get FASTA)   NCBI Sequence Viewer  
  ADA68147 (Get FASTA)   NCBI Sequence Viewer  
  ADA68148 (Get FASTA)   NCBI Sequence Viewer  
  ADA68149 (Get FASTA)   NCBI Sequence Viewer  
  ADA68150 (Get FASTA)   NCBI Sequence Viewer  
  ADA68151 (Get FASTA)   NCBI Sequence Viewer  
  ADA68152 (Get FASTA)   NCBI Sequence Viewer  
  ADA68153 (Get FASTA)   NCBI Sequence Viewer  
  ADA68154 (Get FASTA)   NCBI Sequence Viewer  
  ADA68155 (Get FASTA)   NCBI Sequence Viewer  
  ADA68156 (Get FASTA)   NCBI Sequence Viewer  
  ADA68157 (Get FASTA)   NCBI Sequence Viewer  
  ADA68158 (Get FASTA)   NCBI Sequence Viewer  
  ADA68159 (Get FASTA)   NCBI Sequence Viewer  
  ADA68160 (Get FASTA)   NCBI Sequence Viewer  
  ADA68161 (Get FASTA)   NCBI Sequence Viewer  
  ADA68162 (Get FASTA)   NCBI Sequence Viewer  
  ADA68163 (Get FASTA)   NCBI Sequence Viewer  
  ADA68164 (Get FASTA)   NCBI Sequence Viewer  
  ADA68165 (Get FASTA)   NCBI Sequence Viewer  
  ADA68166 (Get FASTA)   NCBI Sequence Viewer  
  ADA68167 (Get FASTA)   NCBI Sequence Viewer  
  ADA68168 (Get FASTA)   NCBI Sequence Viewer  
  ADA68169 (Get FASTA)   NCBI Sequence Viewer  
  ADA68170 (Get FASTA)   NCBI Sequence Viewer  
  ADA68171 (Get FASTA)   NCBI Sequence Viewer  
  ADA68172 (Get FASTA)   NCBI Sequence Viewer  
  ADA71141 (Get FASTA)   NCBI Sequence Viewer  
  ADA71142 (Get FASTA)   NCBI Sequence Viewer  
  ADA71144 (Get FASTA)   NCBI Sequence Viewer  
  ADA71145 (Get FASTA)   NCBI Sequence Viewer  
  ADA71146 (Get FASTA)   NCBI Sequence Viewer  
  ADA71147 (Get FASTA)   NCBI Sequence Viewer  
  ADA71148 (Get FASTA)   NCBI Sequence Viewer  
  ADA81880 (Get FASTA)   NCBI Sequence Viewer  
  ADA81881 (Get FASTA)   NCBI Sequence Viewer  
  ADA81882 (Get FASTA)   NCBI Sequence Viewer  
  ADA81883 (Get FASTA)   NCBI Sequence Viewer  
  ADA81884 (Get FASTA)   NCBI Sequence Viewer  
  ADA81885 (Get FASTA)   NCBI Sequence Viewer  
  ADK09877 (Get FASTA)   NCBI Sequence Viewer  
  ADK09878 (Get FASTA)   NCBI Sequence Viewer  
  ADK09879 (Get FASTA)   NCBI Sequence Viewer  
  ADK09880 (Get FASTA)   NCBI Sequence Viewer  
  ADK09881 (Get FASTA)   NCBI Sequence Viewer  
  ADK09882 (Get FASTA)   NCBI Sequence Viewer  
  ADK09883 (Get FASTA)   NCBI Sequence Viewer  
  ADK09884 (Get FASTA)   NCBI Sequence Viewer  
  ADK09885 (Get FASTA)   NCBI Sequence Viewer  
  ADK09886 (Get FASTA)   NCBI Sequence Viewer  
  ADK09887 (Get FASTA)   NCBI Sequence Viewer  
  ADK09888 (Get FASTA)   NCBI Sequence Viewer  
  ADK09889 (Get FASTA)   NCBI Sequence Viewer  
  ADK09890 (Get FASTA)   NCBI Sequence Viewer  
  ADK09891 (Get FASTA)   NCBI Sequence Viewer  
  ADK09892 (Get FASTA)   NCBI Sequence Viewer  
  ADK09893 (Get FASTA)   NCBI Sequence Viewer  
  ADK09895 (Get FASTA)   NCBI Sequence Viewer  
  ADK09896 (Get FASTA)   NCBI Sequence Viewer  
  ADK09897 (Get FASTA)   NCBI Sequence Viewer  
  ADK09898 (Get FASTA)   NCBI Sequence Viewer  
  ADK09899 (Get FASTA)   NCBI Sequence Viewer  
  ADK09900 (Get FASTA)   NCBI Sequence Viewer  
  AFN20613 (Get FASTA)   NCBI Sequence Viewer  
  AFN80344 (Get FASTA)   NCBI Sequence Viewer  
  AFN80345 (Get FASTA)   NCBI Sequence Viewer  
  AFN80346 (Get FASTA)   NCBI Sequence Viewer  
  AFN80347 (Get FASTA)   NCBI Sequence Viewer  
  AFN80348 (Get FASTA)   NCBI Sequence Viewer  
  AFN80349 (Get FASTA)   NCBI Sequence Viewer  
  AFN80350 (Get FASTA)   NCBI Sequence Viewer  
  AGZ95141 (Get FASTA)   NCBI Sequence Viewer  
  AGZ95142 (Get FASTA)   NCBI Sequence Viewer  
  AGZ95143 (Get FASTA)   NCBI Sequence Viewer  
  AGZ95144 (Get FASTA)   NCBI Sequence Viewer  
  AGZ95145 (Get FASTA)   NCBI Sequence Viewer  
  AGZ95146 (Get FASTA)   NCBI Sequence Viewer  
  AGZ95147 (Get FASTA)   NCBI Sequence Viewer  
  AGZ95148 (Get FASTA)   NCBI Sequence Viewer  
  AOG74322 (Get FASTA)   NCBI Sequence Viewer  
  AOG74323 (Get FASTA)   NCBI Sequence Viewer  
  AOG74324 (Get FASTA)   NCBI Sequence Viewer  
  AOG74327 (Get FASTA)   NCBI Sequence Viewer  
  AOG74329 (Get FASTA)   NCBI Sequence Viewer  
  AOG74331 (Get FASTA)   NCBI Sequence Viewer  
  AOX49927 (Get FASTA)   NCBI Sequence Viewer  
  AOX49929 (Get FASTA)   NCBI Sequence Viewer  
  BAG63234 (Get FASTA)   NCBI Sequence Viewer  
  EAX10738 (Get FASTA)   NCBI Sequence Viewer  
  EAX10739 (Get FASTA)   NCBI Sequence Viewer  
  EAX10740 (Get FASTA)   NCBI Sequence Viewer  
  Q9NQV7 (Get FASTA)   NCBI Sequence Viewer  
  QTY72834 (Get FASTA)   NCBI Sequence Viewer  
  QTY72835 (Get FASTA)   NCBI Sequence Viewer  
  QTY72836 (Get FASTA)   NCBI Sequence Viewer  
  QTY72837 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_064612   ⟸   NM_020227
- Peptide Label: isoform PRDM9 B
- UniProtKB: Q9NQV7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001363829   ⟸   NM_001376900
- Peptide Label: isoform PRDM9 B
RefSeq Acc Id: ENSP00000425471   ⟸   ENST00000502755
RefSeq Acc Id: ENSP00000489227   ⟸   ENST00000635252
RefSeq Acc Id: ENSP00000296682   ⟸   ENST00000296682
Protein Domains
C2H2-type   KRAB-related   SET


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] Chr5:547757..26541238 [GRCh38]
Chr5:547872..26541347 [GRCh37]
Chr5:600872..26577104 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p14.3-14.1(chr5:23279693-26849830)x1 copy number loss See cases [RCV000053448] Chr5:23279693..26849830 [GRCh38]
Chr5:23279802..26849939 [GRCh37]
Chr5:23315559..26885696 [NCBI36]
Chr5:5p14.3-14.1
pathogenic
NM_020227.2(PRDM9):c.302-2520G>A single nucleotide variant Lung cancer [RCV000095695] Chr5:23515361 [GRCh38]
Chr5:23515470 [GRCh37]
Chr5:5p14.2
uncertain significance
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 copy number loss See cases [RCV001310287] Chr5:22149..29048823 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 copy number loss See cases [RCV000133768] Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 copy number loss See cases [RCV000134873] Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 copy number loss See cases [RCV000135668] Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 copy number loss See cases [RCV000135878] Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3
pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 copy number loss See cases [RCV000137072] Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 copy number gain See cases [RCV000137682] Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1
pathogenic|uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 copy number loss See cases [RCV000137165] Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 copy number loss See cases [RCV000138099] Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 copy number gain See cases [RCV000137806] Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 copy number loss See cases [RCV000141225] Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2
pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2
pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 copy number loss See cases [RCV000142934] Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh38/hg38 5p15.1-14.1(chr5:18379122-26803906)x1 copy number loss See cases [RCV000142584] Chr5:18379122..26803906 [GRCh38]
Chr5:18379231..26804015 [GRCh37]
Chr5:18414988..26839772 [NCBI36]
Chr5:5p15.1-14.1
benign
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 copy number loss See cases [RCV000142645] Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 copy number loss See cases [RCV000515550] Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3 copy number gain See cases [RCV000449100] Chr5:3159498..30585683 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 copy number gain See cases [RCV000446077] Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 copy number loss See cases [RCV000447672] Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 copy number loss See cases [RCV000446054] Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 copy number loss See cases [RCV000447462] Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.31-13.3(chr5:7806183-31019599)x1 copy number loss See cases [RCV000445859] Chr5:7806183..31019599 [GRCh37]
Chr5:5p15.31-13.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p15.31-14.2(chr5:9120813-24274030)x1 copy number loss See cases [RCV000448421] Chr5:9120813..24274030 [GRCh37]
Chr5:5p15.31-14.2
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 copy number loss See cases [RCV000512066] Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 copy number loss See cases [RCV000510193] Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
NM_020227.3(PRDM9):c.2368A>C (p.Asn790His) single nucleotide variant not specified [RCV000501051] Chr5:23527456 [GRCh38]
Chr5:23527565 [GRCh37]
Chr5:5p14.2
likely benign
NM_020227.3(PRDM9):c.2042C>G (p.Thr681Ser) single nucleotide variant not specified [RCV000504404] Chr5:23527130 [GRCh38]
Chr5:23527239 [GRCh37]
Chr5:5p14.2
likely benign
NM_020227.3(PRDM9):c.1706T>A (p.Ile569Asn) single nucleotide variant not specified [RCV000502007] Chr5:23526794 [GRCh38]
Chr5:23526903 [GRCh37]
Chr5:5p14.2
likely benign
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p14.3-14.2(chr5:23230091-24218667)x3 copy number gain See cases [RCV000511785] Chr5:23230091..24218667 [GRCh37]
Chr5:5p14.3-14.2
uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 copy number loss See cases [RCV000510921] Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
GRCh37/hg19 5p14.3-14.2(chr5:22308420-24492723) copy number gain Obesity [RCV000626556] Chr5:22308420..24492723 [GRCh37]
Chr5:5p14.3-14.2
uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2
pathogenic
GRCh37/hg19 5p14.3-13.3(chr5:21528945-29900961)x3 copy number gain not provided [RCV000682540] Chr5:21528945..29900961 [GRCh37]
Chr5:5p14.3-13.3
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 copy number loss not provided [RCV000744322] Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3
pathogenic
GRCh37/hg19 5p14.3-14.2(chr5:18606044-23660010)x3 copy number gain not provided [RCV000744526] Chr5:18606044..23660010 [GRCh37]
Chr5:5p14.3-14.2
uncertain significance
GRCh37/hg19 5p14.3-14.2(chr5:23242685-23564888)x3 copy number gain not provided [RCV000744561] Chr5:23242685..23564888 [GRCh37]
Chr5:5p14.3-14.2
benign
NM_020227.4(PRDM9):c.90C>T (p.Asp30=) single nucleotide variant not provided [RCV000948695] Chr5:23509490 [GRCh38]
Chr5:23509599 [GRCh37]
Chr5:5p14.2
benign
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) copy number loss 5p partial monosomy syndrome [RCV000767709] Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
GRCh37/hg19 5p14.3-14.2(chr5:22265414-24492214)x3 copy number gain not provided [RCV001005663] Chr5:22265414..24492214 [GRCh37]
Chr5:5p14.3-14.2
uncertain significance
NM_020227.4(PRDM9):c.432C>T (p.Gly144=) single nucleotide variant not provided [RCV000974612] Chr5:23521103 [GRCh38]
Chr5:23521212 [GRCh37]
Chr5:5p14.2
benign
GRCh37/hg19 5p14.3-14.2(chr5:22840105-23682150)x4 copy number gain not provided [RCV001005665] Chr5:22840105..23682150 [GRCh37]
Chr5:5p14.3-14.2
uncertain significance
GRCh37/hg19 5p14.3-13.3(chr5:19324003-30115028)x3 copy number gain not provided [RCV001258686] Chr5:19324003..30115028 [GRCh37]
Chr5:5p14.3-13.3
uncertain significance
GRCh37/hg19 5p14.2(chr5:23486168-23572704)x1 copy number loss not provided [RCV001258684] Chr5:23486168..23572704 [GRCh37]
Chr5:5p14.2
likely benign
GRCh37/hg19 5p15.1-14.2(chr5:16741484-23963898)x3 copy number gain not provided [RCV001258689] Chr5:16741484..23963898 [GRCh37]
Chr5:5p15.1-14.2
uncertain significance
GRCh37/hg19 5p14.3-14.2(chr5:22546550-23554888)x1 copy number loss not provided [RCV001258687] Chr5:22546550..23554888 [GRCh37]
Chr5:5p14.3-14.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:13994 AgrOrtholog
COSMIC PRDM9 COSMIC
Ensembl Genes ENSG00000164256 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000296682 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000425471 UniProtKB/TrEMBL
  ENSP00000489227 UniProtKB/TrEMBL
Ensembl Transcript ENST00000296682 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000502755 UniProtKB/TrEMBL
  ENST00000635252 UniProtKB/TrEMBL
GTEx ENSG00000164256 GTEx
HGNC ID HGNC:13994 ENTREZGENE
Human Proteome Map PRDM9 Human Proteome Map
InterPro KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KRAB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Krueppel-associated_box-rel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PRDM7_9_PR-SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSXRD_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56979 UniProtKB/Swiss-Prot
NCBI Gene 56979 ENTREZGENE
OMIM 609760 OMIM
Pfam KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSXRD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33721 PharmGKB
PROSITE KRAB_RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART KRAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF109640 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0U1RQY2_HUMAN UniProtKB/TrEMBL
  A0A1B3TN72_HUMAN UniProtKB/TrEMBL
  A0A1B3TN76_HUMAN UniProtKB/TrEMBL
  A0A1B3TN77_HUMAN UniProtKB/TrEMBL
  A0A1B3TN79_HUMAN UniProtKB/TrEMBL
  A0A1B3TN80_HUMAN UniProtKB/TrEMBL
  A0A1B3TN81_HUMAN UniProtKB/TrEMBL
  A0A1B3TN82_HUMAN UniProtKB/TrEMBL
  A0A1B3TN83_HUMAN UniProtKB/TrEMBL
  A0A1B3TN90_HUMAN UniProtKB/TrEMBL
  A0A1B3TN92_HUMAN UniProtKB/TrEMBL
  A0A1B3TN96_HUMAN UniProtKB/TrEMBL
  A0A1D8X9D0_HUMAN UniProtKB/TrEMBL
  A0A1D8X9D4_HUMAN UniProtKB/TrEMBL
  A0A1D8X9D6_HUMAN UniProtKB/TrEMBL
  D2E450_HUMAN UniProtKB/TrEMBL
  D2E453_HUMAN UniProtKB/TrEMBL
  D2E456_HUMAN UniProtKB/TrEMBL
  D2E459_HUMAN UniProtKB/TrEMBL
  D2E482_HUMAN UniProtKB/TrEMBL
  D2E492_HUMAN UniProtKB/TrEMBL
  D2K7E5_HUMAN UniProtKB/TrEMBL
  D2K7E6_HUMAN UniProtKB/TrEMBL
  D2K7E7_HUMAN UniProtKB/TrEMBL
  D2K7E8_HUMAN UniProtKB/TrEMBL
  D2K7E9_HUMAN UniProtKB/TrEMBL
  D2K7F0_HUMAN UniProtKB/TrEMBL
  D2KI84_HUMAN UniProtKB/TrEMBL
  D2KI85_HUMAN UniProtKB/TrEMBL
  D2KI86_HUMAN UniProtKB/TrEMBL
  D2KI87_HUMAN UniProtKB/TrEMBL
  D2KI88_HUMAN UniProtKB/TrEMBL
  D2KI89_HUMAN UniProtKB/TrEMBL
  D2KI90_HUMAN UniProtKB/TrEMBL
  D2KI91_HUMAN UniProtKB/TrEMBL
  D6RD68_HUMAN UniProtKB/TrEMBL
  I6V2Q9_HUMAN UniProtKB/TrEMBL
  I6ZAW9_HUMAN UniProtKB/TrEMBL
  I6ZLR0_HUMAN UniProtKB/TrEMBL
  I6ZLR5_HUMAN UniProtKB/TrEMBL
  I7A6V7_HUMAN UniProtKB/TrEMBL
  I7A6W4_HUMAN UniProtKB/TrEMBL
  I7AFR5_HUMAN UniProtKB/TrEMBL
  I7AJB3_HUMAN UniProtKB/TrEMBL
  PRDM9_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  U5YQZ9_HUMAN UniProtKB/TrEMBL
  U5YR71_HUMAN UniProtKB/TrEMBL
  U5YS13_HUMAN UniProtKB/TrEMBL
  U5YS18_HUMAN UniProtKB/TrEMBL
  U5YU24_HUMAN UniProtKB/TrEMBL
  U5YUF0_HUMAN UniProtKB/TrEMBL
  U5YUF5_HUMAN UniProtKB/TrEMBL
UniProt Secondary B4DX22 UniProtKB/Swiss-Prot
  Q27Q50 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-26 PRDM9  PR/SET domain 9    PR domain 9  Symbol and/or name change 5135510 APPROVED
2016-03-31 PRDM9  PR domain 9  MSBP3  minisatellite binding protein 3, 115kDa  Data Merged 737654 PROVISIONAL
2016-02-02 PRDM9  PR domain 9  PRDM9  PR domain containing 9  Symbol and/or name change 5135510 APPROVED