PRDM14 (PR/SET domain 14) - Rat Genome Database

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Gene: PRDM14 (PR/SET domain 14) Homo sapiens
Analyze
Symbol: PRDM14
Name: PR/SET domain 14
RGD ID: 1316344
HGNC Page HGNC:14001
Description: Predicted to enable RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including embryo implantation; inner cell mass cell fate commitment; and negative regulation of macromolecule biosynthetic process. Located in nucleoplasm. Implicated in lung non-small cell carcinoma. Biomarker of lung non-small cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC59730; PFM11; PR domain 14; PR domain containing 14; PR domain zinc finger protein 14; PR domain-containing 14; PR domain-containing protein 14; PR-domain zinc finger protein 14
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
GRCh38870,051,651 - 70,071,252 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl870,051,651 - 70,071,693 (-)EnsemblGRCh38hg38GRCh38
GRCh37870,963,886 - 70,983,487 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36871,126,575 - 71,146,116 (-)NCBINCBI36Build 36hg18NCBI36
Build 34871,126,578 - 71,146,116NCBI
Celera866,961,694 - 66,981,231 (-)NCBICelera
Cytogenetic Map8q13.3NCBI
HuRef866,457,068 - 66,476,744 (-)NCBIHuRef
CHM1_1871,019,399 - 71,039,074 (-)NCBICHM1_1
T2T-CHM13v2.0870,481,509 - 70,501,107 (-)NCBIT2T-CHM13v2.0
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

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Playing TETris with DNA modifications. Delatte B, etal., EMBO J. 2014 Jun 2;33(11):1198-211. doi: 10.15252/embj.201488290. Epub 2014 May 13.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Integrating DNA methylation and microRNA biomarkers in sputum for lung cancer detection. Su Y, etal., Clin Epigenetics. 2016 Oct 19;8:109. doi: 10.1186/s13148-016-0275-5. eCollection 2016.
6. High expression of PRDM14 correlates with cell differentiation and is a novel prognostic marker in resected non-small cell lung cancer. Zhang T, etal., Med Oncol. 2013;30(3):605. doi: 10.1007/s12032-013-0605-9. Epub 2013 May 21.
Additional References at PubMed
PMID:10668202   PMID:10737800   PMID:12477932   PMID:14675547   PMID:14702039   PMID:15489334   PMID:17942894   PMID:18187620   PMID:18194669   PMID:20211142   PMID:20840815   PMID:20953172  
PMID:21516116   PMID:21873635   PMID:23088713   PMID:23280602   PMID:23666240   PMID:24722188   PMID:25233927   PMID:25416956   PMID:25640309   PMID:25750208   PMID:25910212   PMID:26687479  
PMID:26871637   PMID:26903163   PMID:27229929   PMID:27281218   PMID:27693212   PMID:28423353   PMID:28498896   PMID:28514442   PMID:29024936   PMID:29178343   PMID:29324254   PMID:30155811  
PMID:31099008   PMID:31130394   PMID:31741141   PMID:32152282   PMID:32296183   PMID:33355367   PMID:33629299   PMID:33961781   PMID:34990589   PMID:37704626  


Genomics

Comparative Map Data
PRDM14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38870,051,651 - 70,071,252 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl870,051,651 - 70,071,693 (-)EnsemblGRCh38hg38GRCh38
GRCh37870,963,886 - 70,983,487 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36871,126,575 - 71,146,116 (-)NCBINCBI36Build 36hg18NCBI36
Build 34871,126,578 - 71,146,116NCBI
Celera866,961,694 - 66,981,231 (-)NCBICelera
Cytogenetic Map8q13.3NCBI
HuRef866,457,068 - 66,476,744 (-)NCBIHuRef
CHM1_1871,019,399 - 71,039,074 (-)NCBICHM1_1
T2T-CHM13v2.0870,481,509 - 70,501,107 (-)NCBIT2T-CHM13v2.0
Prdm14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39113,183,649 - 13,197,467 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl113,183,681 - 13,197,387 (-)EnsemblGRCm39 Ensembl
GRCm38113,113,428 - 13,127,163 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl113,113,457 - 13,127,163 (-)EnsemblGRCm38mm10GRCm38
MGSCv37113,103,509 - 13,117,244 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36113,098,642 - 13,112,377 (-)NCBIMGSCv36mm8
MGSCv36113,198,671 - 13,212,167 (-)NCBIMGSCv36mm8
Celera113,077,505 - 13,091,214 (-)NCBICelera
Cytogenetic Map1A3NCBI
cM Map14.1NCBI
Prdm14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8510,864,137 - 10,876,666 (+)NCBIGRCr8
mRatBN7.256,082,163 - 6,092,712 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl56,082,442 - 6,092,712 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.055,710,076 - 5,730,560 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl55,710,392 - 5,730,560 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0510,550,222 - 10,570,255 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera55,665,056 - 5,674,368 (+)NCBICelera
Cytogenetic Map5q11NCBI
Prdm14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554449,612,059 - 9,626,817 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554449,606,310 - 9,626,772 (+)NCBIChiLan1.0ChiLan1.0
PRDM14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2785,784,874 - 85,806,252 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1861,414,702 - 61,436,088 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0866,578,674 - 66,599,360 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1868,240,111 - 68,261,039 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl868,240,741 - 68,260,263 (-)Ensemblpanpan1.1panPan2
PRDM14
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12919,203,798 - 19,220,149 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2919,203,807 - 19,220,518 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2919,420,735 - 19,479,950 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02919,300,801 - 19,317,150 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2919,300,810 - 19,317,144 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12919,340,296 - 19,356,663 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02919,406,772 - 19,423,122 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02919,687,457 - 19,703,818 (-)NCBIUU_Cfam_GSD_1.0
Prdm14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530359,964,384 - 59,979,219 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649614,806,928 - 14,820,967 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649614,789,443 - 14,820,967 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRDM14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl465,271,315 - 65,295,178 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1465,273,988 - 65,295,362 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2470,938,499 - 70,962,240 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRDM14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1865,800,454 - 65,820,190 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl865,800,923 - 65,819,456 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603975,620,953 - 75,642,095 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prdm14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474421,104,798 - 21,120,591 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474421,092,091 - 21,121,313 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRDM14
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q13.2-13.3(chr8:68488015-71476177)x1 copy number loss See cases [RCV000050801] Chr8:68488015..71476177 [GRCh38]
Chr8:69400250..72388412 [GRCh37]
Chr8:69562804..72550966 [NCBI36]
Chr8:8q13.2-13.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13
pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 copy number loss See cases [RCV000054242] Chr8:62230636..73227786 [GRCh38]
Chr8:63143195..74140021 [GRCh37]
Chr8:63305749..74302575 [NCBI36]
Chr8:8q12.3-21.11
pathogenic
NM_024504.3(PRDM14):c.889G>A (p.Gly297Arg) single nucleotide variant Malignant melanoma [RCV000068381] Chr8:70068253 [GRCh38]
Chr8:70980488 [GRCh37]
Chr8:71143042 [NCBI36]
Chr8:8q13.3
not provided
GRCh38/hg38 8q13.2-13.3(chr8:68987881-71640028)x1 copy number loss See cases [RCV000134801] Chr8:68987881..71640028 [GRCh38]
Chr8:69900116..72552263 [GRCh37]
Chr8:70062670..72714817 [NCBI36]
Chr8:8q13.2-13.3
pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q13.2-13.3(chr8:68987835-71663466)x1 copy number loss See cases [RCV000138251] Chr8:68987835..71663466 [GRCh38]
Chr8:69900070..72575701 [GRCh37]
Chr8:70062624..72738255 [NCBI36]
Chr8:8q13.2-13.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69955127-72552241)x1 copy number loss See cases [RCV000240421] Chr8:69955127..72552241 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3 copy number gain See cases [RCV000240367] Chr8:70971013..82019151 [GRCh37]
Chr8:8q13.3-21.13
likely pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)x1 copy number loss See cases [RCV000446721] Chr8:69899336..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645)x1 copy number loss See cases [RCV000510185] Chr8:69899336..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_024504.4(PRDM14):c.1330C>T (p.Arg444Trp) single nucleotide variant Inborn genetic diseases [RCV003269709] Chr8:70058696 [GRCh38]
Chr8:70970931 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q13.3(chr8:70848713-71632067)x3 copy number gain not provided [RCV001006112] Chr8:70848713..71632067 [GRCh37]
Chr8:8q13.3
uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69894553-72597645)x1 copy number loss not provided [RCV001827961] Chr8:69894553..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
GRCh37/hg19 8q13.2-13.3(chr8:69899336-72597645) copy number loss not specified [RCV002053771] Chr8:69899336..72597645 [GRCh37]
Chr8:8q13.2-13.3
pathogenic
NM_024504.4(PRDM14):c.202C>T (p.Pro68Ser) single nucleotide variant Inborn genetic diseases [RCV002772466] Chr8:70069659 [GRCh38]
Chr8:70981894 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_024504.4(PRDM14):c.528G>C (p.Lys176Asn) single nucleotide variant Inborn genetic diseases [RCV002992272] Chr8:70069333 [GRCh38]
Chr8:70981568 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_024504.4(PRDM14):c.775G>T (p.Val259Leu) single nucleotide variant Inborn genetic diseases [RCV002906555] Chr8:70068367 [GRCh38]
Chr8:70980602 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_024504.4(PRDM14):c.214C>T (p.Arg72Trp) single nucleotide variant Inborn genetic diseases [RCV002817402] Chr8:70069647 [GRCh38]
Chr8:70981882 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_024504.4(PRDM14):c.1556G>A (p.Cys519Tyr) single nucleotide variant Inborn genetic diseases [RCV002879596] Chr8:70052237 [GRCh38]
Chr8:70964472 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_024504.4(PRDM14):c.353G>C (p.Ser118Thr) single nucleotide variant Inborn genetic diseases [RCV002957137] Chr8:70069508 [GRCh38]
Chr8:70981743 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_024504.4(PRDM14):c.158T>G (p.Phe53Cys) single nucleotide variant Inborn genetic diseases [RCV002709065] Chr8:70069703 [GRCh38]
Chr8:70981938 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_024504.4(PRDM14):c.190C>T (p.Pro64Ser) single nucleotide variant Inborn genetic diseases [RCV002896760] Chr8:70069671 [GRCh38]
Chr8:70981906 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_024504.4(PRDM14):c.773C>T (p.Thr258Met) single nucleotide variant Inborn genetic diseases [RCV002677370] Chr8:70068369 [GRCh38]
Chr8:70980604 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_024504.4(PRDM14):c.805T>C (p.Phe269Leu) single nucleotide variant Inborn genetic diseases [RCV003281198] Chr8:70068337 [GRCh38]
Chr8:70980572 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_024504.4(PRDM14):c.415G>A (p.Glu139Lys) single nucleotide variant Inborn genetic diseases [RCV003192162] Chr8:70069446 [GRCh38]
Chr8:70981681 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_024504.4(PRDM14):c.161G>A (p.Arg54Gln) single nucleotide variant Inborn genetic diseases [RCV003192969] Chr8:70069700 [GRCh38]
Chr8:70981935 [GRCh37]
Chr8:8q13.3
uncertain significance
NM_024504.4(PRDM14):c.277C>T (p.Pro93Ser) single nucleotide variant Inborn genetic diseases [RCV003364012] Chr8:70069584 [GRCh38]
Chr8:70981819 [GRCh37]
Chr8:8q13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:575
Count of miRNA genes:473
Interacting mature miRNAs:517
Transcripts:ENST00000276594, ENST00000426346
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-81111  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37870,970,794 - 70,971,101UniSTSGRCh37
Build 36871,133,348 - 71,133,655RGDNCBI36
Celera866,968,463 - 66,968,770RGD
Cytogenetic Map8q13.3UniSTS
TNG Radiation Hybrid Map835803.0UniSTS
PRDM14_3672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37870,963,918 - 70,964,472UniSTSGRCh37
Build 36871,126,472 - 71,127,026RGDNCBI36
Celera866,961,591 - 66,962,145RGD
HuRef866,457,100 - 66,457,659UniSTS


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
High
Medium 6 181 10
Low 4 2 2 4 2 16 345 3 1
Below cutoff 276 449 277 57 285 33 514 273 512 104 222 194 24 154 361

Sequence


RefSeq Acc Id: ENST00000276594   ⟹   ENSP00000276594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl870,051,651 - 70,071,252 (-)Ensembl
RefSeq Acc Id: ENST00000426346   ⟹   ENSP00000408653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl870,069,562 - 70,071,693 (-)Ensembl
RefSeq Acc Id: NM_024504   ⟹   NP_078780
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,051,651 - 70,071,252 (-)NCBI
GRCh37870,963,886 - 70,983,562 (-)NCBI
Build 36871,126,575 - 71,146,116 (-)NCBI Archive
Celera866,961,694 - 66,981,231 (-)RGD
HuRef866,457,068 - 66,476,744 (-)NCBI
CHM1_1871,019,399 - 71,039,074 (-)NCBI
T2T-CHM13v2.0870,481,509 - 70,501,107 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_078780 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG39635 (Get FASTA)   NCBI Sequence Viewer  
  AAH52311 (Get FASTA)   NCBI Sequence Viewer  
  AHX99430 (Get FASTA)   NCBI Sequence Viewer  
  BAB14120 (Get FASTA)   NCBI Sequence Viewer  
  EAW86962 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000276594
  ENSP00000276594.2
  ENSP00000408653.1
GenBank Protein Q9GZV8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_078780   ⟸   NM_024504
- UniProtKB: Q86UX9 (UniProtKB/Swiss-Prot),   Q9GZV8 (UniProtKB/Swiss-Prot),   A0A023UFG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000408653   ⟸   ENST00000426346
RefSeq Acc Id: ENSP00000276594   ⟸   ENST00000276594
Protein Domains
C2H2-type   SET

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9GZV8-F1-model_v2 AlphaFold Q9GZV8 1-571 view protein structure

Promoters
RGD ID:7213485
Promoter ID:EPDNEW_H12488
Type:initiation region
Name:PRDM14_1
Description:PR/SET domain 14
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38870,071,248 - 70,071,308EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14001 AgrOrtholog
COSMIC PRDM14 COSMIC
Ensembl Genes ENSG00000147596 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000276594 ENTREZGENE
  ENST00000276594.3 UniProtKB/Swiss-Prot
  ENST00000426346.1 UniProtKB/TrEMBL
Gene3D-CATH 2.170.270.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147596 GTEx
HGNC ID HGNC:14001 ENTREZGENE
Human Proteome Map PRDM14 Human Proteome Map
InterPro PRDM14_PR-SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SET_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:63978 UniProtKB/Swiss-Prot
NCBI Gene 63978 ENTREZGENE
OMIM 611781 OMIM
PANTHER PR DOMAIN ZINC FINGER PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PR DOMAIN ZINC FINGER PROTEIN 14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PRDM2_PR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33712 PharmGKB
PROSITE 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 SET UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF82199 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A023UFG1 ENTREZGENE, UniProtKB/TrEMBL
  C9JMM8_HUMAN UniProtKB/TrEMBL
  PRD14_HUMAN UniProtKB/Swiss-Prot
  Q86UX9 ENTREZGENE
  Q9GZV8 ENTREZGENE
UniProt Secondary Q86UX9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-26 PRDM14  PR/SET domain 14    PR domain 14  Symbol and/or name change 5135510 APPROVED
2016-02-02 PRDM14  PR domain 14    PR domain containing 14  Symbol and/or name change 5135510 APPROVED