PRDM5 (PR/SET domain 5) - Rat Genome Database

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Gene: PRDM5 (PR/SET domain 5) Homo sapiens
Analyze
Symbol: PRDM5
Name: PR/SET domain 5
RGD ID: 1318295
HGNC Page HGNC
Description: Enables DNA-binding transcription factor binding activity; DNA-binding transcription repressor activity, RNA polymerase II-specific; and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in several processes, including histone modification; negative regulation of transcription by RNA polymerase II; and regulation of extracellular matrix organization. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in nuclear body and nucleolus. Implicated in brittle cornea syndrome 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BCS2; PFM2; PR domain 5; PR domain containing 5; PR domain zinc finger protein 5; PR domain-containing protein 5
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384120,684,291 - 120,922,726 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl4120,684,919 - 120,922,870 (-)EnsemblGRCh38hg38GRCh38
GRCh374121,613,070 - 121,843,881 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364121,835,379 - 122,063,463 (-)NCBINCBI36hg18NCBI36
Build 344121,973,534 - 122,201,618NCBI
Celera4119,000,898 - 119,228,989 (-)NCBI
Cytogenetic Map4q27NCBI
HuRef4117,343,051 - 117,571,126 (-)NCBIHuRef
CHM1_14121,592,306 - 121,820,496 (-)NCBICHM1_1
T2T-CHM13v2.04123,996,112 - 124,226,930 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:10668202   PMID:12477932   PMID:14675547   PMID:14702039   PMID:15077163   PMID:17636019   PMID:17699856   PMID:17903298   PMID:19274049   PMID:19460752   PMID:20213097   PMID:20332099  
PMID:20379614   PMID:21326311   PMID:21664999   PMID:21873635   PMID:22087297   PMID:23251661   PMID:23873026   PMID:24395656   PMID:24966940   PMID:24981860   PMID:25613750   PMID:26395458  
PMID:26489929   PMID:26560304   PMID:27032025   PMID:27295517   PMID:28228349   PMID:28476379   PMID:28514442   PMID:29939776   PMID:31182584   PMID:31753913   PMID:32083978   PMID:32296183  
PMID:32393512   PMID:33739556   PMID:33961781   PMID:34757658  


Genomics

Comparative Map Data
PRDM5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384120,684,291 - 120,922,726 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl4120,684,919 - 120,922,870 (-)EnsemblGRCh38hg38GRCh38
GRCh374121,613,070 - 121,843,881 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 364121,835,379 - 122,063,463 (-)NCBINCBI36hg18NCBI36
Build 344121,973,534 - 122,201,618NCBI
Celera4119,000,898 - 119,228,989 (-)NCBI
Cytogenetic Map4q27NCBI
HuRef4117,343,051 - 117,571,126 (-)NCBIHuRef
CHM1_14121,592,306 - 121,820,496 (-)NCBICHM1_1
T2T-CHM13v2.04123,996,112 - 124,226,930 (-)NCBI
Prdm5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39665,754,640 - 65,914,606 (+)NCBIGRCm39mm39
GRCm39 Ensembl665,755,972 - 65,913,994 (+)Ensembl
GRCm38665,777,656 - 65,937,622 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl665,778,988 - 65,937,010 (+)EnsemblGRCm38mm10GRCm38
MGSCv37665,728,956 - 65,886,371 (+)NCBIGRCm37mm9NCBIm37
MGSCv36665,708,617 - 65,865,951 (+)NCBImm8
Celera667,905,125 - 68,063,194 (+)NCBICelera
Cytogenetic Map6C1NCBI
Prdm5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2495,075,736 - 95,237,921 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl495,075,768 - 95,238,301 (+)Ensembl
Rnor_6.0496,659,062 - 96,810,816 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl496,659,084 - 96,812,263 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04161,443,531 - 161,604,796 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4495,448,787 - 95,620,031 (+)NCBIRGSC3.4rn4RGSC3.4
Celera489,805,717 - 89,965,943 (+)NCBICelera
Cytogenetic Map4q31NCBI
Prdm5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542819,714,730 - 19,881,917 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542819,684,721 - 19,881,716 (+)NCBIChiLan1.0ChiLan1.0
PRDM5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.14124,036,911 - 124,252,056 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4124,036,911 - 124,252,928 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v04112,896,606 - 113,127,400 (-)NCBIMhudiblu_PPA_v0panPan3
PRDM5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11919,129,418 - 19,327,377 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1919,129,081 - 19,325,590 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1919,352,083 - 19,548,712 (+)NCBI
ROS_Cfam_1.01919,256,009 - 19,455,852 (+)NCBI
UMICH_Zoey_3.11919,214,952 - 19,414,721 (+)NCBI
UNSW_CanFamBas_1.01919,486,468 - 19,686,537 (+)NCBI
UU_Cfam_GSD_1.01919,965,407 - 20,165,939 (+)NCBI
Prdm5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530166,595,007 - 66,730,445 (+)NCBI
SpeTri2.0NW_004936662388,279 - 524,803 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRDM5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl8103,097,397 - 103,382,115 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.18103,188,312 - 103,383,955 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.28110,658,856 - 110,852,557 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRDM5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1767,985,387 - 68,207,113 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl767,987,359 - 68,206,893 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603746,952,855 - 47,174,019 (-)NCBIVero_WHO_p1.0
Prdm5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624777676,965 - 893,047 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_004624777675,215 - 893,125 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-50733  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374121,636,755 - 121,636,954UniSTSGRCh37
Build 364121,856,205 - 121,856,404RGDNCBI36
Celera4119,021,737 - 119,021,936RGD
Cytogenetic Map4q25-q26UniSTS
HuRef4117,363,859 - 117,364,058UniSTS
TNG Radiation Hybrid Map475455.0UniSTS
D4S247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374121,671,789 - 121,671,957UniSTSGRCh37
GRCh374121,671,776 - 121,671,950UniSTSGRCh37
Build 364121,891,239 - 121,891,407RGDNCBI36
Celera4119,056,749 - 119,056,923UniSTS
Celera4119,056,762 - 119,056,930RGD
Cytogenetic Map4q25-q26UniSTS
HuRef4117,398,901 - 117,399,067UniSTS
HuRef4117,398,888 - 117,399,060UniSTS
SHGC-85678  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374121,736,793 - 121,737,066UniSTSGRCh37
Build 364121,956,243 - 121,956,516RGDNCBI36
Celera4119,121,761 - 119,122,034RGD
Cytogenetic Map4q25-q26UniSTS
HuRef4117,463,895 - 117,464,168UniSTS
TNG Radiation Hybrid Map475506.0UniSTS
SHGC-146118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374121,819,493 - 121,819,784UniSTSGRCh37
Build 364122,038,943 - 122,039,234RGDNCBI36
Celera4119,204,467 - 119,204,758RGD
Cytogenetic Map4q25-q26UniSTS
HuRef4117,546,603 - 117,546,894UniSTS
TNG Radiation Hybrid Map475985.0UniSTS
D4S2881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374121,655,934 - 121,656,113UniSTSGRCh37
Build 364121,875,384 - 121,875,563RGDNCBI36
Celera4119,040,912 - 119,041,091RGD
Cytogenetic Map4q25-q26UniSTS
HuRef4117,383,046 - 117,383,225UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC-12163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374121,636,899 - 121,637,064UniSTSGRCh37
Build 364121,856,349 - 121,856,514RGDNCBI36
Celera4119,021,881 - 119,022,046RGD
Cytogenetic Map4q25-q26UniSTS
HuRef4117,364,003 - 117,364,168UniSTS
D4S1125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374121,735,532 - 121,735,691UniSTSGRCh37
Build 364121,954,982 - 121,955,141RGDNCBI36
Celera4119,120,500 - 119,120,659RGD
Cytogenetic Map4q25-q26UniSTS
HuRef4117,462,634 - 117,462,793UniSTS
TNG Radiation Hybrid Map475522.0UniSTS
D4S247  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q25-q26UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3020
Count of miRNA genes:1130
Interacting mature miRNAs:1395
Transcripts:ENST00000264808, ENST00000394435, ENST00000428209, ENST00000502409, ENST00000503661, ENST00000505033, ENST00000505484, ENST00000506065, ENST00000507611, ENST00000512845, ENST00000513741, ENST00000515109
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
High
Medium 5 4 8 16 99 4 29 10 137 6 19
Low 2345 2512 1315 225 924 66 3825 1749 3223 335 1255 1562 174 1204 2392 5
Below cutoff 46 468 370 364 528 364 426 439 479 60 46 22 1 1 377 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001379106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011531570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017007671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047449559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC025741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW341546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM563688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX646150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF548084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264808   ⟹   ENSP00000264808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4120,691,915 - 120,922,726 (-)Ensembl
RefSeq Acc Id: ENST00000394435   ⟹   ENSP00000377955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4120,837,345 - 120,922,870 (-)Ensembl
RefSeq Acc Id: ENST00000428209   ⟹   ENSP00000404832
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4120,694,823 - 120,922,858 (-)Ensembl
RefSeq Acc Id: ENST00000502409   ⟹   ENSP00000424861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4120,785,031 - 120,821,176 (-)Ensembl
RefSeq Acc Id: ENST00000503661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4120,785,024 - 120,813,006 (-)Ensembl
RefSeq Acc Id: ENST00000505033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4120,885,505 - 120,922,726 (-)Ensembl
RefSeq Acc Id: ENST00000505484
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4120,695,111 - 120,922,681 (-)Ensembl
RefSeq Acc Id: ENST00000506065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4120,695,158 - 120,762,766 (-)Ensembl
RefSeq Acc Id: ENST00000507611
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4120,818,171 - 120,821,348 (-)Ensembl
RefSeq Acc Id: ENST00000512845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4120,816,063 - 120,922,695 (-)Ensembl
RefSeq Acc Id: ENST00000513741
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4120,684,919 - 120,710,411 (-)Ensembl
RefSeq Acc Id: ENST00000515109   ⟹   ENSP00000422309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl4120,694,823 - 120,922,865 (-)Ensembl
RefSeq Acc Id: NM_001300823   ⟹   NP_001287752
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,691,915 - 120,922,726 (-)NCBI
CHM1_14121,589,445 - 121,820,504 (-)NCBI
T2T-CHM13v2.04123,996,112 - 124,226,930 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001300824   ⟹   NP_001287753
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,691,915 - 120,922,726 (-)NCBI
CHM1_14121,589,445 - 121,820,504 (-)NCBI
T2T-CHM13v2.04123,996,112 - 124,226,930 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001379104   ⟹   NP_001366033
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,691,915 - 120,922,726 (-)NCBI
T2T-CHM13v2.04123,996,112 - 124,226,930 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001379106   ⟹   NP_001366035
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,691,915 - 120,922,726 (-)NCBI
T2T-CHM13v2.04123,996,112 - 124,226,930 (-)NCBI
Sequence:
RefSeq Acc Id: NM_018699   ⟹   NP_061169
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,691,915 - 120,922,726 (-)NCBI
GRCh374121,613,070 - 121,844,013 (-)NCBI
Build 364121,835,379 - 122,063,463 (-)NCBI Archive
Celera4119,000,898 - 119,228,989 (-)RGD
HuRef4117,343,051 - 117,571,126 (-)RGD
CHM1_14121,589,445 - 121,820,504 (-)NCBI
T2T-CHM13v2.04123,996,112 - 124,226,930 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262708   ⟹   XP_005262765
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,784,998 - 120,922,726 (-)NCBI
GRCh374121,613,070 - 121,844,013 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531563   ⟹   XP_011529865
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,691,915 - 120,922,726 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531564   ⟹   XP_011529866
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,691,915 - 120,922,726 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531565   ⟹   XP_011529867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,697,704 - 120,922,726 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531566   ⟹   XP_011529868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,684,291 - 120,922,726 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011531568   ⟹   XP_011529870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,697,820 - 120,922,726 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007668   ⟹   XP_016863157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,691,915 - 120,916,090 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007670   ⟹   XP_016863159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,697,821 - 120,922,726 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017007671   ⟹   XP_016863160
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,691,915 - 120,816,819 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047449554   ⟹   XP_047305510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,691,915 - 120,922,726 (-)NCBI
RefSeq Acc Id: XM_047449555   ⟹   XP_047305511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,697,676 - 120,922,726 (-)NCBI
RefSeq Acc Id: XM_047449556   ⟹   XP_047305512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,731,618 - 120,922,726 (-)NCBI
RefSeq Acc Id: XM_047449557   ⟹   XP_047305513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,684,291 - 120,922,726 (-)NCBI
RefSeq Acc Id: XM_047449558   ⟹   XP_047305514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,684,291 - 120,922,726 (-)NCBI
RefSeq Acc Id: XM_047449559   ⟹   XP_047305515
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,697,822 - 120,922,726 (-)NCBI
RefSeq Acc Id: XR_938678
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,754,596 - 120,922,726 (-)NCBI
Sequence:
RefSeq Acc Id: XR_938679
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,754,596 - 120,922,726 (-)NCBI
Sequence:
RefSeq Acc Id: XR_938680
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,754,596 - 120,922,726 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001287752 (Get FASTA)   NCBI Sequence Viewer  
  NP_001287753 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366033 (Get FASTA)   NCBI Sequence Viewer  
  NP_001366035 (Get FASTA)   NCBI Sequence Viewer  
  NP_061169 (Get FASTA)   NCBI Sequence Viewer  
  XP_005262765 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529865 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529866 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529867 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529868 (Get FASTA)   NCBI Sequence Viewer  
  XP_011529870 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863157 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863159 (Get FASTA)   NCBI Sequence Viewer  
  XP_016863160 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305510 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305511 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305512 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305513 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305514 (Get FASTA)   NCBI Sequence Viewer  
  XP_047305515 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF78077 (Get FASTA)   NCBI Sequence Viewer  
  AAH66942 (Get FASTA)   NCBI Sequence Viewer  
  AAI21038 (Get FASTA)   NCBI Sequence Viewer  
  AAI21039 (Get FASTA)   NCBI Sequence Viewer  
  BAG51686 (Get FASTA)   NCBI Sequence Viewer  
  CCO13795 (Get FASTA)   NCBI Sequence Viewer  
  EAX05267 (Get FASTA)   NCBI Sequence Viewer  
  EAX05268 (Get FASTA)   NCBI Sequence Viewer  
  EAX05269 (Get FASTA)   NCBI Sequence Viewer  
  Q9NQX1 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_061169   ⟸   NM_018699
- Peptide Label: isoform 1
- UniProtKB: Q9NQX1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005262765   ⟸   XM_005262708
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: NP_001287753   ⟸   NM_001300824
- Peptide Label: isoform 3
- UniProtKB: Q9NQX1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001287752   ⟸   NM_001300823
- Peptide Label: isoform 2
- UniProtKB: Q9NQX1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011529868   ⟸   XM_011531566
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011529865   ⟸   XM_011531563
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011529866   ⟸   XM_011531564
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011529870   ⟸   XM_011531568
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011529867   ⟸   XM_011531565
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016863157   ⟸   XM_017007668
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016863160   ⟸   XM_017007671
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_016863159   ⟸   XM_017007670
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: NP_001366035   ⟸   NM_001379106
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001366033   ⟸   NM_001379104
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000424861   ⟸   ENST00000502409
RefSeq Acc Id: ENSP00000404832   ⟸   ENST00000428209
RefSeq Acc Id: ENSP00000377955   ⟸   ENST00000394435
RefSeq Acc Id: ENSP00000264808   ⟸   ENST00000264808
RefSeq Acc Id: ENSP00000422309   ⟸   ENST00000515109
RefSeq Acc Id: XP_047305514   ⟸   XM_047449558
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047305513   ⟸   XM_047449557
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047305510   ⟸   XM_047449554
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047305511   ⟸   XM_047449555
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047305515   ⟸   XM_047449559
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047305512   ⟸   XM_047449556
- Peptide Label: isoform X8
Protein Domains
C2H2-type   SET

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NQX1-F1-model_v2 AlphaFold Q9NQX1 1-630 view protein structure

Promoters
RGD ID:6868384
Promoter ID:EPDNEW_H7357
Type:initiation region
Name:PRDM5_2
Description:PR/SET domain 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7358  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,922,721 - 120,922,781EPDNEW
RGD ID:6868386
Promoter ID:EPDNEW_H7358
Type:initiation region
Name:PRDM5_1
Description:PR/SET domain 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7357  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384120,922,849 - 120,922,909EPDNEW
RGD ID:6802541
Promoter ID:HG_KWN:49018
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3
Transcripts:OTTHUMT00000256528,   UC003IDO.1,   UC003IDP.1,   UC010INE.1,   UC010INF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364122,063,314 - 122,063,814 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_018699.4(PRDM5):c.1113C>A (p.Ser371Arg) single nucleotide variant not provided [RCV000522099] Chr4:120798342 [GRCh38]
Chr4:121719497 [GRCh37]
Chr4:4q27
benign|uncertain significance
NM_018699.3(PRDM5):c.946_1623del deletion Brittle cornea syndrome 2 [RCV000024106] Chr4:4q27 pathogenic
NM_018699.4(PRDM5):c.1768C>T (p.Arg590Ter) single nucleotide variant Brittle cornea syndrome 2 [RCV000024107]|not provided [RCV001171739] Chr4:120695236 [GRCh38]
Chr4:121616391 [GRCh37]
Chr4:4q27
pathogenic
NM_018699.4(PRDM5):c.93+1G>A single nucleotide variant Brittle cornea syndrome 2 [RCV000024108] Chr4:120922515 [GRCh38]
Chr4:121843670 [GRCh37]
Chr4:4q27
pathogenic
NM_018699.4(PRDM5):c.320A>G (p.Tyr107Cys) single nucleotide variant Brittle cornea syndrome 2 [RCV000024109] Chr4:120821326 [GRCh38]
Chr4:121742481 [GRCh37]
Chr4:4q27
pathogenic
NM_018699.4(PRDM5):c.974del (p.Cys325fs) deletion Brittle cornea syndrome 2 [RCV000024110]|not provided [RCV001090890] Chr4:120799717 [GRCh38]
Chr4:121720872 [GRCh37]
Chr4:4q27
pathogenic
NM_018699.4(PRDM5):c.93+2T>C single nucleotide variant Brittle cornea syndrome 2 [RCV000024111] Chr4:120922514 [GRCh38]
Chr4:121843669 [GRCh37]
Chr4:4q27
pathogenic
NM_018699.3(PRDM5):c.177+18953G>C single nucleotide variant Lung cancer [RCV000094015] Chr4:120888521 [GRCh38]
Chr4:121809676 [GRCh37]
Chr4:4q27
uncertain significance
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2
pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3
pathogenic
GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3 copy number gain See cases [RCV000051776] Chr4:96092893..136410207 [GRCh38]
Chr4:97014044..137331362 [GRCh37]
Chr4:97233067..137550812 [NCBI36]
Chr4:4q22.3-28.3
pathogenic
GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1 copy number loss See cases [RCV000053321] Chr4:116630862..145429900 [GRCh38]
Chr4:117552018..146351052 [GRCh37]
Chr4:117771466..146570502 [NCBI36]
Chr4:4q26-31.21
pathogenic
NM_018699.4(PRDM5):c.1652G>A (p.Ser551Asn) single nucleotide variant not provided [RCV000174939] Chr4:120710385 [GRCh38]
Chr4:121631540 [GRCh37]
Chr4:4q27
uncertain significance
GRCh38/hg38 4q26-27(chr4:118360303-120924156)x1 copy number loss See cases [RCV000138837] Chr4:118360303..120924156 [GRCh38]
Chr4:119281458..121845311 [GRCh37]
Chr4:119500906..122064761 [NCBI36]
Chr4:4q26-27
pathogenic
GRCh38/hg38 4q27(chr4:120668638-120827692)x3 copy number gain See cases [RCV000139318] Chr4:120668638..120827692 [GRCh38]
Chr4:121589793..121748847 [GRCh37]
Chr4:121809243..121968297 [NCBI36]
Chr4:4q27
likely benign
GRCh38/hg38 4q26-28.3(chr4:117351881-133565667)x1 copy number loss See cases [RCV000143207] Chr4:117351881..133565667 [GRCh38]
Chr4:118273037..134486822 [GRCh37]
Chr4:118492485..134706272 [NCBI36]
Chr4:4q26-28.3
pathogenic
NM_018699.4(PRDM5):c.106G>A (p.Gly36Arg) single nucleotide variant Brittle cornea syndrome 2 [RCV001260234]|not provided [RCV000175905] Chr4:120907545 [GRCh38]
Chr4:121828700 [GRCh37]
Chr4:4q27
likely pathogenic|uncertain significance
NM_018699.4(PRDM5):c.705G>C (p.Gln235His) single nucleotide variant not provided [RCV000179505] Chr4:120816870 [GRCh38]
Chr4:121738025 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.660G>A (p.Gln220=) single nucleotide variant Brittle cornea syndrome 1 [RCV000264339]|not provided [RCV002057913]|not specified [RCV000439961] Chr4:120816915 [GRCh38]
Chr4:121738070 [GRCh37]
Chr4:4q27
benign|likely benign
NM_018699.4(PRDM5):c.877A>G (p.Lys293Glu) single nucleotide variant Axenfeld-Rieger syndrome type 1 [RCV000207198] Chr4:120811438 [GRCh38]
Chr4:121732593 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1282+9C>T single nucleotide variant Brittle cornea syndrome 2 [RCV001198586]|not provided [RCV002062884]|not specified [RCV000606020] Chr4:120784989 [GRCh38]
Chr4:121706144 [GRCh37]
Chr4:4q27
benign|likely benign
NM_018699.4(PRDM5):c.726C>T (p.Ser242=) single nucleotide variant not specified [RCV000604008] Chr4:120816849 [GRCh38]
Chr4:121738004 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1722G>A (p.Gln574=) single nucleotide variant Brittle cornea syndrome 1 [RCV000286582]|not provided [RCV000892558]|not specified [RCV000601791] Chr4:120710315 [GRCh38]
Chr4:121631470 [GRCh37]
Chr4:4q27
likely benign|uncertain significance
NM_018699.4(PRDM5):c.342A>C (p.Glu114Asp) single nucleotide variant Brittle cornea syndrome 1 [RCV000280666]|not provided [RCV000831805] Chr4:120821304 [GRCh38]
Chr4:121742459 [GRCh37]
Chr4:4q27
benign|likely benign|uncertain significance
NM_018699.3(PRDM5):c.-172C>T single nucleotide variant Brittle cornea syndrome 1 [RCV000271668] Chr4:120922780 [GRCh38]
Chr4:121843935 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1066T>A (p.Ser356Thr) single nucleotide variant Brittle cornea syndrome 1 [RCV000276233]|not provided [RCV002061238]|not specified [RCV000425476] Chr4:120798389 [GRCh38]
Chr4:121719544 [GRCh37]
Chr4:4q27
benign|likely benign
NM_018699.4(PRDM5):c.849G>A (p.Gln283=) single nucleotide variant Brittle cornea syndrome 1 [RCV000272520]|not provided [RCV002061239]|not specified [RCV000418493] Chr4:120816469 [GRCh38]
Chr4:121737624 [GRCh37]
Chr4:4q27
benign|likely benign
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2
pathogenic
NM_018699.4(PRDM5):c.128G>C (p.Arg43Thr) single nucleotide variant Brittle cornea syndrome 1 [RCV000315336] Chr4:120907523 [GRCh38]
Chr4:121828678 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.544C>T (p.Leu182Phe) single nucleotide variant Brittle cornea syndrome 1 [RCV000334286]|not provided [RCV001548254] Chr4:120818459 [GRCh38]
Chr4:121739614 [GRCh37]
Chr4:4q27
conflicting interpretations of pathogenicity|uncertain significance
NM_018699.4(PRDM5):c.236C>G (p.Ser79Cys) single nucleotide variant Brittle cornea syndrome 1 [RCV000398886] Chr4:120853482 [GRCh38]
Chr4:121774637 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.36G>T (p.Leu12=) single nucleotide variant Brittle cornea syndrome 1 [RCV000399185] Chr4:120922573 [GRCh38]
Chr4:121843728 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.681A>G (p.Leu227=) single nucleotide variant Brittle cornea syndrome 1 [RCV000377607]|not provided [RCV002057912]|not specified [RCV000436179] Chr4:120816894 [GRCh38]
Chr4:121738049 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1623+8T>C single nucleotide variant Brittle cornea syndrome 2 [RCV000400599]|not provided [RCV000922730] Chr4:120754545 [GRCh38]
Chr4:121675700 [GRCh37]
Chr4:4q27
likely benign|uncertain significance
NM_018699.4(PRDM5):c.650+5G>A single nucleotide variant Brittle cornea syndrome 2 [RCV000378562]|not provided [RCV000482400] Chr4:120818348 [GRCh38]
Chr4:121739503 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.3(PRDM5):c.-207G>A single nucleotide variant Brittle cornea syndrome 1 [RCV000303367] Chr4:120922815 [GRCh38]
Chr4:121843970 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1379A>G (p.Lys460Arg) single nucleotide variant Brittle cornea syndrome 1 [RCV000356841]|not provided [RCV001171740] Chr4:120781207 [GRCh38]
Chr4:121702362 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.3(PRDM5):c.-234C>T single nucleotide variant Brittle cornea syndrome 1 [RCV000358106] Chr4:120922842 [GRCh38]
Chr4:121843997 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.*120T>C single nucleotide variant Brittle cornea syndrome 1 [RCV000340282]|not provided [RCV001564858] Chr4:120694991 [GRCh38]
Chr4:121616146 [GRCh37]
Chr4:4q27
likely benign|uncertain significance
NM_018699.4(PRDM5):c.1633T>C (p.Tyr545His) single nucleotide variant Brittle cornea syndrome 1 [RCV000341675]|not provided [RCV000584978] Chr4:120710404 [GRCh38]
Chr4:121631559 [GRCh37]
Chr4:4q27
likely benign|uncertain significance
NM_018699.4(PRDM5):c.*154A>T single nucleotide variant Brittle cornea syndrome 1 [RCV000384381] Chr4:120694957 [GRCh38]
Chr4:121616112 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1283-5C>T single nucleotide variant Brittle cornea syndrome 2 [RCV000407888]|not provided [RCV000726848]|not specified [RCV000442095] Chr4:120781308 [GRCh38]
Chr4:121702463 [GRCh37]
Chr4:4q27
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_018699.4(PRDM5):c.-61G>C single nucleotide variant Brittle cornea syndrome 1 [RCV000307248] Chr4:120922669 [GRCh38]
Chr4:121843824 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.650+7A>T single nucleotide variant Brittle cornea syndrome 2 [RCV000323912] Chr4:120818346 [GRCh38]
Chr4:121739501 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.*176T>C single nucleotide variant Brittle cornea syndrome 1 [RCV000325180] Chr4:120694935 [GRCh38]
Chr4:121616090 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.743+14G>A single nucleotide variant Brittle cornea syndrome 2 [RCV000327545]|not provided [RCV002061240] Chr4:120816818 [GRCh38]
Chr4:121737973 [GRCh37]
Chr4:4q27
benign|uncertain significance
NM_018699.4(PRDM5):c.1189-14T>C single nucleotide variant Brittle cornea syndrome 2 [RCV000370803] Chr4:120785105 [GRCh38]
Chr4:121706260 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1234T>C (p.Leu412=) single nucleotide variant Brittle cornea syndrome 1 [RCV000312661]|not provided [RCV002057911]|not specified [RCV000428129] Chr4:120785046 [GRCh38]
Chr4:121706201 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.237C>T (p.Ser79=) single nucleotide variant Brittle cornea syndrome 1 [RCV000349563]|not provided [RCV001574811] Chr4:120853481 [GRCh38]
Chr4:121774636 [GRCh37]
Chr4:4q27
likely benign|uncertain significance
NM_018699.4(PRDM5):c.1887C>T (p.Asp629=) single nucleotide variant Brittle cornea syndrome 1 [RCV000395087] Chr4:120695117 [GRCh38]
Chr4:121616272 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1031-6dup duplication Brittle cornea syndrome 1 [RCV000307869]|not provided [RCV001697677] Chr4:120798429..120798430 [GRCh38]
Chr4:121719584..121719585 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.592G>C (p.Glu198Gln) single nucleotide variant Brittle cornea syndrome 1 [RCV000279273] Chr4:120818411 [GRCh38]
Chr4:121739566 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1605C>T (p.His535=) single nucleotide variant not provided [RCV000368637] Chr4:120754571 [GRCh38]
Chr4:121675726 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.3(PRDM5):c.-245C>G single nucleotide variant Brittle cornea syndrome 1 [RCV000268580] Chr4:120922853 [GRCh38]
Chr4:121844008 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.946-157G>A single nucleotide variant not provided [RCV001571757] Chr4:120799902 [GRCh38]
Chr4:121721057 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.93+240C>A single nucleotide variant not provided [RCV001566364] Chr4:120922276 [GRCh38]
Chr4:121843431 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.946-9C>T single nucleotide variant Brittle cornea syndrome 2 [RCV000362585] Chr4:120799754 [GRCh38]
Chr4:121720909 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.3(PRDM5):c.-133T>C single nucleotide variant Brittle cornea syndrome 1 [RCV000366631] Chr4:120922741 [GRCh38]
Chr4:121843896 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.94-10T>G single nucleotide variant Brittle cornea syndrome 2 [RCV000351449] Chr4:120907567 [GRCh38]
Chr4:121828722 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1385G>C (p.Arg462Thr) single nucleotide variant Brittle cornea syndrome 1 [RCV000297279] Chr4:120781201 [GRCh38]
Chr4:121702356 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.392A>C (p.Glu131Ala) single nucleotide variant Brittle cornea syndrome 1 [RCV000375145] Chr4:120821254 [GRCh38]
Chr4:121742409 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.*141T>C single nucleotide variant Brittle cornea syndrome 1 [RCV000289939] Chr4:120694970 [GRCh38]
Chr4:121616125 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.666A>G (p.Thr222=) single nucleotide variant not provided [RCV001697897] Chr4:120816909 [GRCh38]
Chr4:121738064 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.248G>A (p.Arg83His) single nucleotide variant not provided [RCV000523313] Chr4:120853470 [GRCh38]
Chr4:121774625 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.775dup (p.Asp259fs) duplication not provided [RCV000413935] Chr4:120816542..120816543 [GRCh38]
Chr4:121737697..121737698 [GRCh37]
Chr4:4q27
likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_018699.4(PRDM5):c.1851C>T (p.Leu617=) single nucleotide variant not provided [RCV001698388] Chr4:120695153 [GRCh38]
Chr4:121616308 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.300+17C>T single nucleotide variant not specified [RCV000418700] Chr4:120853401 [GRCh38]
Chr4:121774556 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.491A>T (p.Lys164Ile) single nucleotide variant not provided [RCV002062644]|not specified [RCV000439437] Chr4:120818512 [GRCh38]
Chr4:121739667 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1632G>A (p.Pro544=) single nucleotide variant not provided [RCV000883739] Chr4:120710405 [GRCh38]
Chr4:121631560 [GRCh37]
Chr4:4q27
benign|likely benign
NM_018699.4(PRDM5):c.963T>C (p.Asp321=) single nucleotide variant not provided [RCV000885187]|not specified [RCV000430783] Chr4:120799728 [GRCh38]
Chr4:121720883 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1383T>C (p.Tyr461=) single nucleotide variant not provided [RCV000885186]|not specified [RCV000441045] Chr4:120781203 [GRCh38]
Chr4:121702358 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter) single nucleotide variant Brittle cornea syndrome 2 [RCV000778717]|not provided [RCV000482774] Chr4:120816905 [GRCh38]
Chr4:121738060 [GRCh37]
Chr4:4q27
likely pathogenic|uncertain significance
NM_018699.4(PRDM5):c.946-20_946-17del deletion not provided [RCV002063821]|not specified [RCV000478629] Chr4:120799762..120799765 [GRCh38]
Chr4:121720917..121720920 [GRCh37]
Chr4:4q27
likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2
pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2
pathogenic
NM_018699.4(PRDM5):c.651-21_651-20del microsatellite not provided [RCV002066897]|not specified [RCV000601768] Chr4:120816944..120816945 [GRCh38]
Chr4:121738099..121738100 [GRCh37]
Chr4:4q27
benign|likely benign
NM_018699.4(PRDM5):c.669G>A (p.Ala223=) single nucleotide variant not provided [RCV001707771] Chr4:120816906 [GRCh38]
Chr4:121738061 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1282+16G>A single nucleotide variant not specified [RCV000601993] Chr4:120784982 [GRCh38]
Chr4:121706137 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.360G>T (p.Leu120=) single nucleotide variant not specified [RCV000607556] Chr4:120821286 [GRCh38]
Chr4:121742441 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1273A>G (p.Ile425Val) single nucleotide variant not provided [RCV000970971]|not specified [RCV000616854] Chr4:120785007 [GRCh38]
Chr4:121706162 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.-34G>A single nucleotide variant not specified [RCV000611625] Chr4:120922642 [GRCh38]
Chr4:121843797 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1188+13A>C single nucleotide variant not specified [RCV000614538] Chr4:120798254 [GRCh38]
Chr4:121719409 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1282+12T>C single nucleotide variant not specified [RCV000603723] Chr4:120784986 [GRCh38]
Chr4:121706141 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1031-15T>C single nucleotide variant Brittle cornea syndrome 2 [RCV001144609]|not provided [RCV002064066]|not specified [RCV000609171] Chr4:120798439 [GRCh38]
Chr4:121719594 [GRCh37]
Chr4:4q27
benign|likely benign|uncertain significance
NM_018699.4(PRDM5):c.93+16del deletion not specified [RCV000603898] Chr4:120922500 [GRCh38]
Chr4:121843655 [GRCh37]
Chr4:4q27
likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q26-28.2(chr4:116307857-129302960)x1 copy number loss not provided [RCV000682448] Chr4:116307857..129302960 [GRCh37]
Chr4:4q26-28.2
pathogenic
NM_018699.4(PRDM5):c.1624-200C>T single nucleotide variant not provided [RCV001567066] Chr4:120710613 [GRCh38]
Chr4:121631768 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1444-58A>C single nucleotide variant not provided [RCV001546820] Chr4:120777339 [GRCh38]
Chr4:121698494 [GRCh37]
Chr4:4q27
likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q27(chr4:121361500-121620482)x3 copy number gain not provided [RCV000743938] Chr4:121361500..121620482 [GRCh37]
Chr4:4q27
benign
GRCh37/hg19 4q27(chr4:121575053-121797177)x3 copy number gain not provided [RCV000743939] Chr4:121575053..121797177 [GRCh37]
Chr4:4q27
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_018699.4(PRDM5):c.1272A>G (p.Leu424=) single nucleotide variant not provided [RCV000916822] Chr4:120785008 [GRCh38]
Chr4:121706163 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.650+7A>G single nucleotide variant Brittle cornea syndrome 2 [RCV001146447]|not provided [RCV002070775] Chr4:120818346 [GRCh38]
Chr4:121739501 [GRCh37]
Chr4:4q27
likely benign|uncertain significance
NM_018699.4(PRDM5):c.1444-292A>G single nucleotide variant not provided [RCV001586611] Chr4:120777573 [GRCh38]
Chr4:121698728 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.945+260T>A single nucleotide variant not provided [RCV001569978] Chr4:120811110 [GRCh38]
Chr4:121732265 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.650+118del deletion not provided [RCV001648057] Chr4:120818235 [GRCh38]
Chr4:121739390 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1538-5T>G single nucleotide variant Brittle cornea syndrome 2 [RCV001149195] Chr4:120754643 [GRCh38]
Chr4:121675798 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1283-176A>G single nucleotide variant not provided [RCV001668834] Chr4:120781479 [GRCh38]
Chr4:121702634 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.744-38C>T single nucleotide variant Brittle cornea syndrome 2 [RCV001789561]|not provided [RCV001724922] Chr4:120816612 [GRCh38]
Chr4:121737767 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.946-41G>C single nucleotide variant not provided [RCV001724927] Chr4:120799786 [GRCh38]
Chr4:121720941 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1283-239A>G single nucleotide variant not provided [RCV001724938] Chr4:120781542 [GRCh38]
Chr4:121702697 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1537+144C>T single nucleotide variant not provided [RCV001724939] Chr4:120777044 [GRCh38]
Chr4:121698199 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.252C>T (p.Phe84=) single nucleotide variant not provided [RCV000899170] Chr4:120853466 [GRCh38]
Chr4:121774621 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.762G>A (p.Glu254=) single nucleotide variant not provided [RCV000980960] Chr4:120816556 [GRCh38]
Chr4:121737711 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1548C>T (p.Pro516=) single nucleotide variant not provided [RCV000917097] Chr4:120754628 [GRCh38]
Chr4:121675783 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1189-242A>T single nucleotide variant not provided [RCV000837414] Chr4:120785333 [GRCh38]
Chr4:121706488 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1624-330C>T single nucleotide variant not provided [RCV000828544] Chr4:120710743 [GRCh38]
Chr4:121631898 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.301-270C>T single nucleotide variant not provided [RCV000829874] Chr4:120821615 [GRCh38]
Chr4:121742770 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1031-121del deletion not provided [RCV000839313] Chr4:120798545 [GRCh38]
Chr4:121719700 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1282+135C>T single nucleotide variant not provided [RCV000838342] Chr4:120784863 [GRCh38]
Chr4:121706018 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.478C>T (p.Arg160Cys) single nucleotide variant not provided [RCV000998287] Chr4:120818525 [GRCh38]
Chr4:121739680 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.475+179T>C single nucleotide variant not provided [RCV000837465] Chr4:120820992 [GRCh38]
Chr4:121742147 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1282+17G>C single nucleotide variant not provided [RCV000841036] Chr4:120784981 [GRCh38]
Chr4:121706136 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1624-339T>C single nucleotide variant not provided [RCV000828543] Chr4:120710752 [GRCh38]
Chr4:121631907 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.946-5del deletion not provided [RCV000827054] Chr4:120799750 [GRCh38]
Chr4:121720905 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.294C>A (p.Ala98=) single nucleotide variant not provided [RCV000920975] Chr4:120853424 [GRCh38]
Chr4:121774579 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.866-181A>G single nucleotide variant not provided [RCV000837472] Chr4:120811630 [GRCh38]
Chr4:121732785 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1444-186T>C single nucleotide variant not provided [RCV000837473] Chr4:120777467 [GRCh38]
Chr4:121698622 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.945+274G>C single nucleotide variant not provided [RCV000843887] Chr4:120811096 [GRCh38]
Chr4:121732251 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1188+309G>A single nucleotide variant not provided [RCV000843888] Chr4:120797958 [GRCh38]
Chr4:121719113 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1443+287C>G single nucleotide variant not provided [RCV000843889] Chr4:120780856 [GRCh38]
Chr4:121702011 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1538-287T>G single nucleotide variant not provided [RCV000843890] Chr4:120754925 [GRCh38]
Chr4:121676080 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.865+320C>T single nucleotide variant not provided [RCV000843907] Chr4:120816133 [GRCh38]
Chr4:121737288 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.475+6G>C single nucleotide variant not provided [RCV000827634] Chr4:120821165 [GRCh38]
Chr4:121742320 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.651-97C>T single nucleotide variant not provided [RCV000839310] Chr4:120817021 [GRCh38]
Chr4:121738176 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1283-123A>G single nucleotide variant not provided [RCV000839314] Chr4:120781426 [GRCh38]
Chr4:121702581 [GRCh37]
Chr4:4q27
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787448] Chr4:116624547..126168646 [GRCh37]
Chr4:4q26-28.1
likely pathogenic
NM_018699.4(PRDM5):c.1728+286G>A single nucleotide variant not provided [RCV000830257] Chr4:120710023 [GRCh38]
Chr4:121631178 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.839A>G (p.Lys280Arg) single nucleotide variant not provided [RCV000998286] Chr4:120816479 [GRCh38]
Chr4:121737634 [GRCh37]
Chr4:4q27
uncertain significance
GRCh37/hg19 4q27(chr4:121564290-121803254)x3 copy number gain not provided [RCV000848789] Chr4:121564290..121803254 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.475+9T>A single nucleotide variant Brittle cornea syndrome 2 [RCV001146448] Chr4:120821162 [GRCh38]
Chr4:121742317 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.476-175_476-172del deletion not provided [RCV001571836] Chr4:120818699..120818702 [GRCh38]
Chr4:121739854..121739857 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.476-162T>C single nucleotide variant not provided [RCV001566985] Chr4:120818689 [GRCh38]
Chr4:121739844 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.125A>C (p.Lys42Thr) single nucleotide variant not provided [RCV001590750] Chr4:120907526 [GRCh38]
Chr4:121828681 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.177+185C>T single nucleotide variant not provided [RCV001549629] Chr4:120907289 [GRCh38]
Chr4:121828444 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.676A>T (p.Ser226Cys) single nucleotide variant not provided [RCV001556292] Chr4:120816899 [GRCh38]
Chr4:121738054 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1728+88_1728+89insTA insertion not provided [RCV001661143] Chr4:120710220..120710221 [GRCh38]
Chr4:121631375..121631376 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1031-6T>A single nucleotide variant not provided [RCV001548363] Chr4:120798430 [GRCh38]
Chr4:121719585 [GRCh37]
Chr4:4q27
conflicting interpretations of pathogenicity|uncertain significance
NM_018699.4(PRDM5):c.1241G>T (p.Arg414Leu) single nucleotide variant not provided [RCV001531591] Chr4:120785039 [GRCh38]
Chr4:121706194 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.300+58A>G single nucleotide variant not provided [RCV001609103] Chr4:120853360 [GRCh38]
Chr4:121774515 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1741G>A (p.Ala581Thr) single nucleotide variant not provided [RCV001587576] Chr4:120695263 [GRCh38]
Chr4:121616418 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1189-240del deletion not provided [RCV001618872] Chr4:120785331 [GRCh38]
Chr4:121706486 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1031-202A>C single nucleotide variant not provided [RCV001684111] Chr4:120798626 [GRCh38]
Chr4:121719781 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1282+10G>A single nucleotide variant not provided [RCV000921563] Chr4:120784988 [GRCh38]
Chr4:121706143 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.768C>T (p.Cys256=) single nucleotide variant not provided [RCV000908780] Chr4:120816550 [GRCh38]
Chr4:121737705 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1113C>T (p.Ser371=) single nucleotide variant not provided [RCV000977768] Chr4:120798342 [GRCh38]
Chr4:121719497 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1030+45A>G single nucleotide variant not provided [RCV001598131] Chr4:120799616 [GRCh38]
Chr4:121720771 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.744-110A>G single nucleotide variant not provided [RCV001559388] Chr4:120816684 [GRCh38]
Chr4:121737839 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1188+115T>A single nucleotide variant not provided [RCV001609388] Chr4:120798152 [GRCh38]
Chr4:121719307 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.557T>A (p.Leu186His) single nucleotide variant not provided [RCV001531592] Chr4:120818446 [GRCh38]
Chr4:121739601 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.650+81TG[9] microsatellite not provided [RCV001639687] Chr4:120818256..120818257 [GRCh38]
Chr4:121739411..121739412 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.177+110G>A single nucleotide variant not provided [RCV001676577] Chr4:120907364 [GRCh38]
Chr4:121828519 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.651-225T>C single nucleotide variant not provided [RCV001686838] Chr4:120817149 [GRCh38]
Chr4:121738304 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.177+123dup duplication not provided [RCV001694330] Chr4:120907334..120907335 [GRCh38]
Chr4:121828489..121828490 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1031-180A>G single nucleotide variant not provided [RCV001684142] Chr4:120798604 [GRCh38]
Chr4:121719759 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.476-150A>C single nucleotide variant not provided [RCV001670950] Chr4:120818677 [GRCh38]
Chr4:121739832 [GRCh37]
Chr4:4q27
benign
Single allele single nucleotide variant not provided [RCV001587625] Chr4:120923147 [GRCh38]
Chr4:121844302 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1283-294G>A single nucleotide variant not provided [RCV001587695] Chr4:120781597 [GRCh38]
Chr4:121702752 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1443+234A>C single nucleotide variant not provided [RCV001590504] Chr4:120780909 [GRCh38]
Chr4:121702064 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1443+28A>G single nucleotide variant not provided [RCV001644280] Chr4:120781115 [GRCh38]
Chr4:121702270 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.945+184dup duplication not provided [RCV001724923] Chr4:120811184..120811185 [GRCh38]
Chr4:121732339..121732340 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.93+202C>T single nucleotide variant not provided [RCV001586871] Chr4:120922314 [GRCh38]
Chr4:121843469 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.177+139del deletion not provided [RCV001669610] Chr4:120907335 [GRCh38]
Chr4:121828490 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.178-239G>A single nucleotide variant not provided [RCV001684962] Chr4:120853779 [GRCh38]
Chr4:121774934 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.945+218G>A single nucleotide variant not provided [RCV001564983] Chr4:120811152 [GRCh38]
Chr4:121732307 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1312G>A (p.Asp438Asn) single nucleotide variant Brittle cornea syndrome 2 [RCV001198585] Chr4:120781274 [GRCh38]
Chr4:121702429 [GRCh37]
Chr4:4q27
uncertain significance
GRCh37/hg19 4q27(chr4:121232369-121963144)x3 copy number gain not provided [RCV001259310] Chr4:121232369..121963144 [GRCh37]
Chr4:4q27
uncertain significance
GRCh37/hg19 4q27(chr4:121183810-122428870)x3 copy number gain not provided [RCV001259311] Chr4:121183810..122428870 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.17T>G (p.Val6Gly) single nucleotide variant Brittle cornea syndrome 2 [RCV001260235] Chr4:120922592 [GRCh38]
Chr4:121843747 [GRCh37]
Chr4:4q27
likely pathogenic
NM_018699.4(PRDM5):c.1858del (p.His620fs) deletion Brittle cornea syndrome 2 [RCV001260236] Chr4:120695146 [GRCh38]
Chr4:121616301 [GRCh37]
Chr4:4q27
likely pathogenic
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys) single nucleotide variant Brittle cornea syndrome 2 [RCV001260237] Chr4:120853471 [GRCh38]
Chr4:121774626 [GRCh37]
Chr4:4q27
pathogenic
NM_018699.4(PRDM5):c.946-101A>G single nucleotide variant not provided [RCV001581331] Chr4:120799846 [GRCh38]
Chr4:121721001 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.*4G>A single nucleotide variant not provided [RCV001537117] Chr4:120695107 [GRCh38]
Chr4:121616262 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.177+208C>T single nucleotide variant not provided [RCV001581542] Chr4:120907266 [GRCh38]
Chr4:121828421 [GRCh37]
Chr4:4q27
likely benign
GRCh37/hg19 4q26-28.2(chr4:116833638-130232122) copy number loss Behavioral abnormality [RCV001352657] Chr4:116833638..130232122 [GRCh37]
Chr4:4q26-28.2
pathogenic
NM_018699.4(PRDM5):c.508C>T (p.Pro170Ser) single nucleotide variant not provided [RCV001528084] Chr4:120818495 [GRCh38]
Chr4:121739650 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.651-103G>A single nucleotide variant not provided [RCV001541218] Chr4:120817027 [GRCh38]
Chr4:121738182 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.946-60G>C single nucleotide variant not provided [RCV001613809] Chr4:120799805 [GRCh38]
Chr4:121720960 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1189-151C>A single nucleotide variant not provided [RCV001671945] Chr4:120785242 [GRCh38]
Chr4:121706397 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.93+60A>G single nucleotide variant not provided [RCV001724920] Chr4:120922456 [GRCh38]
Chr4:121843611 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1030+232A>G single nucleotide variant not provided [RCV001724937] Chr4:120799429 [GRCh38]
Chr4:121720584 [GRCh37]
Chr4:4q27
benign
NM_018699.4(PRDM5):c.1030+35C>A single nucleotide variant not provided [RCV001666129] Chr4:120799626 [GRCh38]
Chr4:121720781 [GRCh37]
Chr4:4q27
benign
NC_000004.11:g.(?_121616266)_(121720900_?)del deletion not provided [RCV001391054] Chr4:121616266..121720900 [GRCh37]
Chr4:4q27
pathogenic
NM_018699.4(PRDM5):c.1847A>G (p.Tyr616Cys) single nucleotide variant not provided [RCV001755299] Chr4:120695157 [GRCh38]
Chr4:121616312 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.794del (p.Lys265fs) deletion Brittle cornea syndrome 2 [RCV001782682] Chr4:120816524 [GRCh38]
Chr4:121737679 [GRCh37]
Chr4:4q27
likely pathogenic
NM_018699.4(PRDM5):c.842G>T (p.Arg281Ile) single nucleotide variant not provided [RCV001768241] Chr4:120816476 [GRCh38]
Chr4:121737631 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1613C>T (p.Thr538Ile) single nucleotide variant not provided [RCV001768260] Chr4:120754563 [GRCh38]
Chr4:121675718 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.86T>A (p.Val29Glu) single nucleotide variant not provided [RCV001766052] Chr4:120922523 [GRCh38]
Chr4:121843678 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1339T>A (p.Leu447Ile) single nucleotide variant not provided [RCV001767955] Chr4:120781247 [GRCh38]
Chr4:121702402 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.310A>G (p.Asn104Asp) single nucleotide variant not provided [RCV001768235] Chr4:120821336 [GRCh38]
Chr4:121742491 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.692C>T (p.Ser231Leu) single nucleotide variant not provided [RCV001768427] Chr4:120816883 [GRCh38]
Chr4:121738038 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.6G>T (p.Leu2=) single nucleotide variant not provided [RCV001794590] Chr4:120922603 [GRCh38]
Chr4:121843758 [GRCh37]
Chr4:4q27
uncertain significance
GRCh37/hg19 4q26-28.3(chr4:114872547-138005267)x1 copy number loss not provided [RCV001795851] Chr4:114872547..138005267 [GRCh37]
Chr4:4q26-28.3
pathogenic
NM_018699.4(PRDM5):c.1550A>G (p.Tyr517Cys) single nucleotide variant not provided [RCV001776678] Chr4:120754626 [GRCh38]
Chr4:121675781 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1296C>G (p.Phe432Leu) single nucleotide variant not provided [RCV001971420] Chr4:120781290 [GRCh38]
Chr4:121702445 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.406C>G (p.Gln136Glu) single nucleotide variant not provided [RCV002009136] Chr4:120821240 [GRCh38]
Chr4:121742395 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.548C>T (p.Ala183Val) single nucleotide variant not provided [RCV002045253] Chr4:120818455 [GRCh38]
Chr4:121739610 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu) single nucleotide variant not provided [RCV001872249] Chr4:120816835 [GRCh38]
Chr4:121737990 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1208C>G (p.Pro403Arg) single nucleotide variant Brittle cornea syndrome 2 [RCV001825251] Chr4:120785072 [GRCh38]
Chr4:121706227 [GRCh37]
Chr4:4q27
not provided
NC_000004.11:g.(?_121616266)_(121675813_?)del deletion not provided [RCV001967848] Chr4:121616266..121675813 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.230G>A (p.Arg77Gln) single nucleotide variant not provided [RCV001964880] Chr4:120853488 [GRCh38]
Chr4:121774643 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.743+18T>G single nucleotide variant not provided [RCV002006086] Chr4:120816814 [GRCh38]
Chr4:121737969 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1793A>G (p.Asn598Ser) single nucleotide variant not provided [RCV001986764] Chr4:120695211 [GRCh38]
Chr4:121616366 [GRCh37]
Chr4:4q27
uncertain significance
GRCh37/hg19 4q26-28.2(chr4:116888785-129649979) copy number loss not specified [RCV002053451] Chr4:116888785..129649979 [GRCh37]
Chr4:4q26-28.2
pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21
pathogenic
NM_018699.4(PRDM5):c.1406C>T (p.Ala469Val) single nucleotide variant not provided [RCV001892181] Chr4:120781180 [GRCh38]
Chr4:121702335 [GRCh37]
Chr4:4q27
uncertain significance
GRCh37/hg19 4q24-31.21(chr4:104715235-145252595) copy number gain not specified [RCV002053446] Chr4:104715235..145252595 [GRCh37]
Chr4:4q24-31.21
pathogenic
NM_018699.4(PRDM5):c.1114G>A (p.Glu372Lys) single nucleotide variant not provided [RCV002006747] Chr4:120798341 [GRCh38]
Chr4:121719496 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.464C>T (p.Ala155Val) single nucleotide variant not provided [RCV001934742] Chr4:120821182 [GRCh38]
Chr4:121742337 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1507A>T (p.Thr503Ser) single nucleotide variant not provided [RCV001900345] Chr4:120777218 [GRCh38]
Chr4:121698373 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.154A>G (p.Met52Val) single nucleotide variant not provided [RCV001974616] Chr4:120907497 [GRCh38]
Chr4:121828652 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.155T>C (p.Met52Thr) single nucleotide variant not provided [RCV001940457] Chr4:120907496 [GRCh38]
Chr4:121828651 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1190C>G (p.Thr397Ser) single nucleotide variant not provided [RCV001957074] Chr4:120785090 [GRCh38]
Chr4:121706245 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.472A>T (p.Lys158Ter) single nucleotide variant not provided [RCV001994489] Chr4:120821174 [GRCh38]
Chr4:121742329 [GRCh37]
Chr4:4q27
pathogenic
NM_018699.4(PRDM5):c.1500C>A (p.Ser500Arg) single nucleotide variant not provided [RCV001990604] Chr4:120777225 [GRCh38]
Chr4:121698380 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.945+17T>A single nucleotide variant not provided [RCV002110771] Chr4:120811353 [GRCh38]
Chr4:121732508 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.924A>G (p.Ser308=) single nucleotide variant not provided [RCV002088036] Chr4:120811391 [GRCh38]
Chr4:121732546 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.744-17T>C single nucleotide variant not provided [RCV002174296] Chr4:120816591 [GRCh38]
Chr4:121737746 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.865+10C>T single nucleotide variant not provided [RCV002086343] Chr4:120816443 [GRCh38]
Chr4:121737598 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.75G>T (p.Thr25=) single nucleotide variant not provided [RCV002215675] Chr4:120922534 [GRCh38]
Chr4:121843689 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1644A>T (p.Ser548=) single nucleotide variant not provided [RCV002072446] Chr4:120710393 [GRCh38]
Chr4:121631548 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.946-15_946-12del deletion not provided [RCV002119150] Chr4:120799757..120799760 [GRCh38]
Chr4:121720912..121720915 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter) single nucleotide variant Brittle cornea syndrome 2 [RCV002223029] Chr4:120710387 [GRCh38]
Chr4:121631542 [GRCh37]
Chr4:4q27
likely pathogenic
NM_018699.4(PRDM5):c.1282+20G>T single nucleotide variant not provided [RCV002175907] Chr4:120784978 [GRCh38]
Chr4:121706133 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.93+10C>G single nucleotide variant not provided [RCV002220354] Chr4:120922506 [GRCh38]
Chr4:121843661 [GRCh37]
Chr4:4q27
likely benign
NM_018699.4(PRDM5):c.770G>C (p.Arg257Pro) single nucleotide variant not provided [RCV002222306] Chr4:120816548 [GRCh38]
Chr4:121737703 [GRCh37]
Chr4:4q27
uncertain significance
NM_018699.4(PRDM5):c.1698G>A (p.Thr566=) single nucleotide variant not provided [RCV002220453] Chr4:120710339 [GRCh38]
Chr4:121631494 [GRCh37]
Chr4:4q27
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9349 AgrOrtholog
COSMIC PRDM5 COSMIC
Ensembl Genes ENSG00000138738 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264808 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377955 UniProtKB/Swiss-Prot
  ENSP00000404832 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000422309 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000424861 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264808 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394435 UniProtKB/Swiss-Prot
  ENST00000428209 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000502409 UniProtKB/TrEMBL
  ENST00000515109 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000138738 GTEx
HGNC ID HGNC:9349 ENTREZGENE
Human Proteome Map PRDM5 Human Proteome Map
InterPro PRDM5_PR-SET UniProtKB/Swiss-Prot
  SET_dom UniProtKB/Swiss-Prot
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_PRDM5-like UniProtKB/Swiss-Prot
KEGG Report hsa:11107 UniProtKB/Swiss-Prot
NCBI Gene 11107 ENTREZGENE
OMIM 614161 OMIM
  614170 OMIM
Pfam zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33717 PharmGKB
PIRSF PRDM UniProtKB/Swiss-Prot
PROSITE SET UniProtKB/Swiss-Prot
  ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SET UniProtKB/Swiss-Prot
  ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H0Y9S1_HUMAN UniProtKB/TrEMBL
  L0R6M5_HUMAN UniProtKB/TrEMBL
  PRDM5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q0VAI9 UniProtKB/Swiss-Prot
  Q0VAJ0 UniProtKB/Swiss-Prot
  Q6NXQ7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-26 PRDM5  PR/SET domain 5    PR domain 5  Symbol and/or name change 5135510 APPROVED
2016-02-02 PRDM5  PR domain 5    PR domain containing 5  Symbol and/or name change 5135510 APPROVED
2011-09-01 PRDM5  PR domain containing 5  PRDM5  PR domain containing 5  Symbol and/or name change 5135510 APPROVED