PLAG1 (PLAG1 zinc finger) - Rat Genome Database

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Gene: PLAG1 (PLAG1 zinc finger) Homo sapiens
Analyze
Symbol: PLAG1
Name: PLAG1 zinc finger
RGD ID: 1313225
HGNC Page HGNC:9045
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in centrosome; cytosol; and nuclear speck. Implicated in Silver-Russell syndrome and pleomorphic adenoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COL1A2/PLAG1 fusion; HAS2/PLAG1 fusion; pleiomorphic adenoma gene 1; pleiomorphic adenoma gene 1 protein; Pleomorphic adenoma gene 1; PSA; SGPA; SRS4; zinc finger protein PLAG1; ZNF912
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38856,160,909 - 56,211,273 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl856,160,909 - 56,211,324 (-)EnsemblGRCh38hg38GRCh38
GRCh37857,073,468 - 57,123,832 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36857,236,037 - 57,286,392 (-)NCBINCBI36Build 36hg18NCBI36
Build 34857,236,036 - 57,286,392NCBI
Celera853,064,260 - 53,082,827 (-)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef852,540,946 - 52,591,254 (-)NCBIHuRef
CHM1_1857,125,297 - 57,175,697 (-)NCBICHM1_1
T2T-CHM13v2.0856,537,883 - 56,588,262 (-)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
centrosome  (IDA)
cytosol  (IDA)
nuclear speck  (IDA)
nucleoplasm  (IDA)
nucleus  (IEA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Conserved mechanism of PLAG1 activation in salivary gland tumors with and without chromosome 8q12 abnormalities: identification of SII as a new fusion partner gene. Astrom AK, etal., Cancer Res. 1999 Feb 15;59(4):918-23.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9020842   PMID:9268638   PMID:9525740   PMID:9722527   PMID:10646861   PMID:10987300   PMID:11882654   PMID:11888928   PMID:11894114   PMID:12477932   PMID:14695992   PMID:15174051  
PMID:15208321   PMID:15231748   PMID:15262430   PMID:15585652   PMID:15642402   PMID:15920557   PMID:15930271   PMID:16108035   PMID:16344560   PMID:16736500   PMID:17332914   PMID:17693184  
PMID:18059337   PMID:18269579   PMID:18391951   PMID:19266077   PMID:19274049   PMID:19343178   PMID:19347935   PMID:19396169   PMID:19692702   PMID:19893584   PMID:20189936   PMID:20301499  
PMID:20522588   PMID:20546612   PMID:20687796   PMID:20881960   PMID:21394649   PMID:21873635   PMID:21927843   PMID:22038920   PMID:22192798   PMID:22485045   PMID:22593475   PMID:23023303  
PMID:23404581   PMID:23554918   PMID:23630011   PMID:23690029   PMID:23738717   PMID:23958548   PMID:24185117   PMID:24433523   PMID:24468654   PMID:24516594   PMID:24700772   PMID:25060425  
PMID:25429064   PMID:25439740   PMID:25786906   PMID:26492619   PMID:26882287   PMID:27381214   PMID:27463119   PMID:27473265   PMID:28012286   PMID:29135520   PMID:29437290   PMID:29641991  
PMID:29735329   PMID:30026293   PMID:30307055   PMID:30489320   PMID:30839344   PMID:31094927   PMID:31442350   PMID:31614359   PMID:31757836   PMID:31796335   PMID:31922228   PMID:32460013  
PMID:32572900   PMID:33027073   PMID:33097826   PMID:33230916   PMID:33291420   PMID:33300192   PMID:34063412   PMID:34223693   PMID:34292619   PMID:34390320   PMID:34455363   PMID:34684585  
PMID:34906590   PMID:35639948   PMID:37433992   PMID:38084640   PMID:38266920   PMID:38745179  


Genomics

Comparative Map Data
PLAG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38856,160,909 - 56,211,273 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl856,160,909 - 56,211,324 (-)EnsemblGRCh38hg38GRCh38
GRCh37857,073,468 - 57,123,832 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36857,236,037 - 57,286,392 (-)NCBINCBI36Build 36hg18NCBI36
Build 34857,236,036 - 57,286,392NCBI
Celera853,064,260 - 53,082,827 (-)NCBICelera
Cytogenetic Map8q12.1NCBI
HuRef852,540,946 - 52,591,254 (-)NCBIHuRef
CHM1_1857,125,297 - 57,175,697 (-)NCBICHM1_1
T2T-CHM13v2.0856,537,883 - 56,588,262 (-)NCBIT2T-CHM13v2.0
Plag1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3943,895,209 - 3,938,429 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl43,900,996 - 3,938,423 (-)EnsemblGRCm39 Ensembl
GRCm3843,898,769 - 3,938,430 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl43,900,996 - 3,938,423 (-)EnsemblGRCm38mm10GRCm38
MGSCv3743,828,305 - 3,865,552 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3643,829,756 - 3,865,529 (-)NCBIMGSCv36mm8
Celera43,857,688 - 3,895,036 (-)NCBICelera
Cytogenetic Map4A1NCBI
cM Map42.18NCBI
Plag1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8521,699,650 - 21,754,325 (-)NCBIGRCr8
mRatBN7.2516,902,057 - 16,956,727 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl516,905,394 - 16,913,647 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx519,156,087 - 19,164,167 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0520,754,576 - 20,762,656 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0520,506,071 - 20,514,151 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0516,788,186 - 16,842,827 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl516,791,523 - 16,799,776 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0521,565,875 - 21,584,631 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4517,214,930 - 17,223,197 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1517,214,938 - 17,223,197 (-)NCBI
Celera516,279,969 - 16,288,236 (-)NCBICelera
Cytogenetic Map5q12NCBI
Plag1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545415,239,042 - 15,281,669 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545415,239,042 - 15,281,669 (-)NCBIChiLan1.0ChiLan1.0
PLAG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2771,818,630 - 71,869,048 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1847,543,472 - 47,593,656 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0852,607,398 - 52,657,808 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1849,978,292 - 50,028,591 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl849,983,627 - 50,028,591 (-)Ensemblpanpan1.1panPan2
PLAG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1297,563,804 - 7,608,819 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl297,564,596 - 7,608,902 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha297,871,731 - 7,921,444 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0297,633,248 - 7,683,215 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl297,636,479 - 7,683,212 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1297,647,839 - 7,697,595 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0297,779,563 - 7,829,280 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0298,056,328 - 8,106,311 (-)NCBIUU_Cfam_GSD_1.0
Plag1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530371,929,956 - 71,975,601 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364962,814,583 - 2,855,527 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364962,809,878 - 2,855,515 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLAG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl475,646,584 - 75,694,117 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1475,646,585 - 75,696,718 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2482,594,992 - 82,612,789 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PLAG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1852,200,365 - 52,250,938 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl852,203,467 - 52,250,918 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603989,546,317 - 89,596,893 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Plag1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248863,827,937 - 3,868,179 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248863,827,944 - 3,873,124 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLAG1
72 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 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 8q12.1(chr8:55423413-58836753)x1 copy number loss See cases [RCV000054240] Chr8:55423413..58836753 [GRCh38]
Chr8:56335973..59749312 [GRCh37]
Chr8:56498527..59911866 [NCBI36]
Chr8:8q12.1		 pathogenic
NM_002655.2(PLAG1):c.1156C>T (p.Pro386Ser) single nucleotide variant Malignant melanoma [RCV000068353] Chr8:56166590 [GRCh38]
Chr8:57079149 [GRCh37]
Chr8:57241703 [NCBI36]
Chr8:8q12.1		 not provided
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2		 pathogenic
GRCh38/hg38 8q11.23-12.1(chr8:53996579-56163431)x1 copy number loss See cases [RCV000135764] Chr8:53996579..56163431 [GRCh38]
Chr8:54909139..57075990 [GRCh37]
Chr8:55071692..57238544 [NCBI36]
Chr8:8q11.23-12.1		 likely pathogenic
GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3 copy number gain See cases [RCV000137672] Chr8:55315854..64952752 [GRCh38]
Chr8:56228414..65864987 [GRCh37]
Chr8:56390968..66027541 [NCBI36]
Chr8:8q12.1-12.3		 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 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 8p12-q12.1(chr8:36580103-59618998)x3 copy number gain See cases [RCV000139582] Chr8:36580103..59618998 [GRCh38]
Chr8:36437621..60531557 [GRCh37]
Chr8:36556779..60694111 [NCBI36]
Chr8:8p12-q12.1		 pathogenic
GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1 copy number loss See cases [RCV000140643] Chr8:54821357..61146302 [GRCh38]
Chr8:55733917..62058861 [GRCh37]
Chr8:55896471..62221415 [NCBI36]
Chr8:8q12.1-12.2		 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 8q12.1(chr8:54764950-56785299)x1 copy number loss See cases [RCV000142992] Chr8:54764950..56785299 [GRCh38]
Chr8:55677510..57697858 [GRCh37]
Chr8:55840064..57860412 [NCBI36]
Chr8:8q12.1		 pathogenic
GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1 copy number loss See cases [RCV000142642] Chr8:49471778..57825470 [GRCh38]
Chr8:50384337..58738029 [GRCh37]
Chr8:50546890..58900583 [NCBI36]
Chr8:8q11.21-12.1		 pathogenic|likely pathogenic
GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1 copy number loss See cases [RCV000143182] Chr8:53325389..61863018 [GRCh38]
Chr8:54237949..62775577 [GRCh37]
Chr8:54400502..62938131 [NCBI36]
Chr8:8q11.23-12.3		 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 8q11.23-12.3(chr8:53436131-65195953)x3 copy number gain See cases [RCV000239428] Chr8:53436131..65195953 [GRCh37]
Chr8:8q11.23-12.3		 pathogenic
GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1 copy number loss See cases [RCV000240504] Chr8:56405320..57358911 [GRCh37]
Chr8:8q12.1		 likely pathogenic
GRCh37/hg19 8q12.1(chr8:56806172-57128944)x3 copy number gain See cases [RCV000446388] Chr8:56806172..57128944 [GRCh37]
Chr8:8q12.1		 likely benign
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 8q11.23-12.1(chr8:54661151-57790737)x3 copy number gain See cases [RCV000445710] Chr8:54661151..57790737 [GRCh37]
Chr8:8q11.23-12.1		 uncertain significance
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
t(8;10)(q12.1;q23.31) translocation Adenocarcinoma of lung [RCV000490842] Chr8:57120269 [GRCh37]
Chr10:90709142 [GRCh37]
Chr10:10q23.31
Chr8:8q12.1		 likely pathogenic
NM_002655.3(PLAG1):c.439del (p.Ser147fs) deletion Silver-Russell syndrome 1 [RCV000490859]|Silver-russell syndrome 4 [RCV001174521] Chr8:56167307 [GRCh38]
Chr8:57079866 [GRCh37]
Chr8:8q12.1		 pathogenic
NM_002655.3(PLAG1):c.1363del (p.Gln455fs) deletion Silver-Russell syndrome 1 [RCV000491883]|Silver-russell syndrome 4 [RCV001174522] Chr8:56166383 [GRCh38]
Chr8:57078942 [GRCh37]
Chr8:8q12.1		 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
t(8;10)(q12.1;q23.31) translocation Lung adenocarcinoma [RCV000490842] Chr8:57120269 [GRCh37]
Chr10:90709142 [GRCh37]
Chr10:10q23.31
Chr8:8q12.1		 likely pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 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 8q12.1(chr8:57036929-57098250)x3 copy number gain not provided [RCV000747587] Chr8:57036929..57098250 [GRCh37]
Chr8:8q12.1		 benign
GRCh37/hg19 8q12.1(chr8:57054698-57100149)x3 copy number gain not provided [RCV000747588] Chr8:57054698..57100149 [GRCh37]
Chr8:8q12.1		 benign
GRCh37/hg19 8q12.1(chr8:57057254-57096661)x3 copy number gain not provided [RCV000747589] Chr8:57057254..57096661 [GRCh37]
Chr8:8q12.1		 benign
GRCh37/hg19 8q11.21-12.1(chr8:49822483-58822602)x1 copy number loss not provided [RCV000747540] Chr8:49822483..58822602 [GRCh37]
Chr8:8q11.21-12.1		 pathogenic
GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3 copy number gain not provided [RCV000846266] Chr8:39555657..64049089 [GRCh37]
Chr8:8p11.22-q12.3		 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 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_002655.3(PLAG1):c.608A>G (p.His203Arg) single nucleotide variant not provided [RCV004812888] Chr8:56167138 [GRCh38]
Chr8:57079697 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.899G>A (p.Ser300Asn) single nucleotide variant not provided [RCV004812724] Chr8:56166847 [GRCh38]
Chr8:57079406 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.441_489del (p.Ser147fs) deletion Silver-russell syndrome 4 [RCV002251292] Chr8:56167257..56167305 [GRCh38]
Chr8:57079816..57079864 [GRCh37]
Chr8:8q12.1		 likely 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
NM_002655.3(PLAG1):c.1190_1197del (p.Asp397fs) deletion Intellectual disability [RCV001526592] Chr8:56166549..56166556 [GRCh38]
Chr8:57079108..57079115 [GRCh37]
Chr8:8q12.1		 likely pathogenic
NM_002655.3(PLAG1):c.758dup (p.Phe254fs) duplication Silver-russell syndrome 4 [RCV001785361] Chr8:56166987..56166988 [GRCh38]
Chr8:57079546..57079547 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.785_786del (p.Ile262fs) microsatellite not provided [RCV001772597] Chr8:56166960..56166961 [GRCh38]
Chr8:57079519..57079520 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.1367dup (p.Gln459fs) duplication not provided [RCV001763580] Chr8:56166378..56166379 [GRCh38]
Chr8:57078937..57078938 [GRCh37]
Chr8:8q12.1		 uncertain significance
NC_000008.10:g.(?_56854419)_(57906144_?)dup duplication not provided [RCV002020622] Chr8:56854419..57906144 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.1372C>A (p.Pro458Thr) single nucleotide variant not provided [RCV002049744] Chr8:56166374 [GRCh38]
Chr8:57078933 [GRCh37]
Chr8:8q12.1		 benign
NM_002655.3(PLAG1):c.1373C>G (p.Pro458Arg) single nucleotide variant not specified [RCV003123430] Chr8:56166373 [GRCh38]
Chr8:57078932 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.670C>T (p.Arg224Ter) single nucleotide variant not provided [RCV004794936] Chr8:56167076 [GRCh38]
Chr8:57079635 [GRCh37]
Chr8:8q12.1		 likely pathogenic
NM_002655.3(PLAG1):c.68G>A (p.Arg23His) single nucleotide variant not provided [RCV003128976] Chr8:56168202 [GRCh38]
Chr8:57080761 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.1457T>G (p.Leu486Ter) single nucleotide variant not provided [RCV002285678] Chr8:56166289 [GRCh38]
Chr8:57078848 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.589C>T (p.Arg197Ter) single nucleotide variant Silver-russell syndrome 4 [RCV004796790]|not provided [RCV003234408] Chr8:56167157 [GRCh38]
Chr8:57079716 [GRCh37]
Chr8:8q12.1		 likely pathogenic
NM_002655.3(PLAG1):c.1461C>G (p.Ser487Arg) single nucleotide variant not provided [RCV002512358] Chr8:56166285 [GRCh38]
Chr8:57078844 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.1346C>T (p.Ala449Val) single nucleotide variant Inborn genetic diseases [RCV002978135]|PLAG1-related disorder [RCV003420491] Chr8:56166400 [GRCh38]
Chr8:57078959 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.1213A>G (p.Ile405Val) single nucleotide variant Inborn genetic diseases [RCV002951639] Chr8:56166533 [GRCh38]
Chr8:57079092 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.359C>T (p.Thr120Met) single nucleotide variant Inborn genetic diseases [RCV003003580]|PLAG1-related disorder [RCV003936673] Chr8:56167387 [GRCh38]
Chr8:57079946 [GRCh37]
Chr8:8q12.1		 likely benign|uncertain significance
NM_002655.3(PLAG1):c.469C>A (p.Gln157Lys) single nucleotide variant Inborn genetic diseases [RCV002850436] Chr8:56167277 [GRCh38]
Chr8:57079836 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.1155T>G (p.Asp385Glu) single nucleotide variant Inborn genetic diseases [RCV002935688] Chr8:56166591 [GRCh38]
Chr8:57079150 [GRCh37]
Chr8:8q12.1		 likely benign
NM_002655.3(PLAG1):c.343G>A (p.Asp115Asn) single nucleotide variant Inborn genetic diseases [RCV002718788] Chr8:56167403 [GRCh38]
Chr8:57079962 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.1261T>G (p.Leu421Val) single nucleotide variant Inborn genetic diseases [RCV002939811] Chr8:56166485 [GRCh38]
Chr8:57079044 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.74G>A (p.Arg25His) single nucleotide variant Inborn genetic diseases [RCV002748121] Chr8:56168196 [GRCh38]
Chr8:57080755 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.67C>T (p.Arg23Cys) single nucleotide variant Inborn genetic diseases [RCV002672899] Chr8:56168203 [GRCh38]
Chr8:57080762 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.1061G>A (p.Gly354Glu) single nucleotide variant Inborn genetic diseases [RCV002941568] Chr8:56166685 [GRCh38]
Chr8:57079244 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.902C>T (p.Ser301Leu) single nucleotide variant Inborn genetic diseases [RCV002672358] Chr8:56166844 [GRCh38]
Chr8:57079403 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.689G>A (p.Arg230Gln) single nucleotide variant not provided [RCV003319007] Chr8:56167057 [GRCh38]
Chr8:57079616 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.370G>A (p.Glu124Lys) single nucleotide variant Inborn genetic diseases [RCV003363651] Chr8:56167376 [GRCh38]
Chr8:57079935 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh37/hg19 8q12.1(chr8:57048524-58117681)x1 copy number loss not provided [RCV003483028] Chr8:57048524..58117681 [GRCh37]
Chr8:8q12.1		 likely pathogenic
NM_002655.3(PLAG1):c.1075dup (p.Tyr359fs) duplication PLAG1-related disorder [RCV003394422] Chr8:56166670..56166671 [GRCh38]
Chr8:57079229..57079230 [GRCh37]
Chr8:8q12.1		 likely pathogenic
NM_002655.3(PLAG1):c.555C>G (p.His185Gln) single nucleotide variant not provided [RCV004812202] Chr8:56167191 [GRCh38]
Chr8:57079750 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.802_832del (p.Pro268fs) deletion not provided [RCV004588671] Chr8:56166914..56166944 [GRCh38]
Chr8:57079473..57079503 [GRCh37]
Chr8:8q12.1		 uncertain significance
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_002655.3(PLAG1):c.1408A>G (p.Ile470Val) single nucleotide variant Inborn genetic diseases [RCV004511650] Chr8:56166338 [GRCh38]
Chr8:57078897 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.1357G>C (p.Val453Leu) single nucleotide variant PLAG1-related disorder [RCV003917297] Chr8:56166389 [GRCh38]
Chr8:57078948 [GRCh37]
Chr8:8q12.1		 likely benign
NM_002655.3(PLAG1):c.1228C>T (p.Pro410Ser) single nucleotide variant Inborn genetic diseases [RCV004511649] Chr8:56166518 [GRCh38]
Chr8:57079077 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.545A>T (p.Glu182Val) single nucleotide variant Silver-russell syndrome 4 [RCV003993710] Chr8:56167201 [GRCh38]
Chr8:57079760 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.278A>T (p.Lys93Met) single nucleotide variant PLAG1-related disorder [RCV003934423] Chr8:56167468 [GRCh38]
Chr8:57080027 [GRCh37]
Chr8:8q12.1		 likely benign
NM_002655.3(PLAG1):c.894G>T (p.Met298Ile) single nucleotide variant Inborn genetic diseases [RCV004511652] Chr8:56166852 [GRCh38]
Chr8:57079411 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.602G>A (p.Arg201Gln) single nucleotide variant Inborn genetic diseases [RCV004511651] Chr8:56167144 [GRCh38]
Chr8:57079703 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.412C>T (p.Arg138Cys) single nucleotide variant Inborn genetic diseases [RCV004662004] Chr8:56167334 [GRCh38]
Chr8:57079893 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.44C>T (p.Thr15Ile) single nucleotide variant Inborn genetic diseases [RCV004662005] Chr8:56168226 [GRCh38]
Chr8:57080785 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.244C>T (p.His82Tyr) single nucleotide variant Inborn genetic diseases [RCV004662006] Chr8:56167502 [GRCh38]
Chr8:57080061 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.194T>C (p.Ile65Thr) single nucleotide variant Inborn genetic diseases [RCV004662002] Chr8:56168076 [GRCh38]
Chr8:57080635 [GRCh37]
Chr8:8q12.1		 likely benign
NM_002655.3(PLAG1):c.612G>A (p.Met204Ile) single nucleotide variant Inborn genetic diseases [RCV004662003] Chr8:56167134 [GRCh38]
Chr8:57079693 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.1399G>T (p.Ala467Ser) single nucleotide variant Inborn genetic diseases [RCV004662008] Chr8:56166347 [GRCh38]
Chr8:57078906 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.304C>T (p.His102Tyr) single nucleotide variant Inborn genetic diseases [RCV004651078] Chr8:56167442 [GRCh38]
Chr8:57080001 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.1093G>C (p.Gly365Arg) single nucleotide variant Inborn genetic diseases [RCV004651079] Chr8:56166653 [GRCh38]
Chr8:57079212 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.493C>T (p.Leu165Phe) single nucleotide variant Inborn genetic diseases [RCV004662007] Chr8:56167253 [GRCh38]
Chr8:57079812 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.750C>G (p.Phe250Leu) single nucleotide variant Inborn genetic diseases [RCV004651077] Chr8:56166996 [GRCh38]
Chr8:57079555 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.1025C>T (p.Ala342Val) single nucleotide variant not provided [RCV004771263] Chr8:56166721 [GRCh38]
Chr8:57079280 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.478del (p.Glu160fs) deletion Russell-Silver syndrome [RCV004776319] Chr8:56167268 [GRCh38]
Chr8:57079827 [GRCh37]
Chr8:8q12.1		 likely pathogenic
NM_002655.3(PLAG1):c.133A>G (p.Ser45Gly) single nucleotide variant Inborn genetic diseases [RCV004962115] Chr8:56168137 [GRCh38]
Chr8:57080696 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.542A>C (p.Lys181Thr) single nucleotide variant Inborn genetic diseases [RCV004962117] Chr8:56167204 [GRCh38]
Chr8:57079763 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.955A>T (p.Ile319Leu) single nucleotide variant Inborn genetic diseases [RCV004962114] Chr8:56166791 [GRCh38]
Chr8:57079350 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.962T>C (p.Met321Thr) single nucleotide variant Inborn genetic diseases [RCV004962120] Chr8:56166784 [GRCh38]
Chr8:57079343 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.645T>A (p.Cys215Ter) single nucleotide variant Inborn genetic diseases [RCV004962119] Chr8:56167101 [GRCh38]
Chr8:57079660 [GRCh37]
Chr8:8q12.1		 likely pathogenic
NM_002655.3(PLAG1):c.758C>G (p.Pro253Arg) single nucleotide variant Inborn genetic diseases [RCV004962121] Chr8:56166988 [GRCh38]
Chr8:57079547 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.838A>G (p.Lys280Glu) single nucleotide variant Inborn genetic diseases [RCV004962122] Chr8:56166908 [GRCh38]
Chr8:57079467 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.128T>A (p.Phe43Tyr) single nucleotide variant Inborn genetic diseases [RCV004962116] Chr8:56168142 [GRCh38]
Chr8:57080701 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.835T>A (p.Ser279Thr) single nucleotide variant Inborn genetic diseases [RCV004962118] Chr8:56166911 [GRCh38]
Chr8:57079470 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.1130C>T (p.Ser377Leu) single nucleotide variant Inborn genetic diseases [RCV004962123] Chr8:56166616 [GRCh38]
Chr8:57079175 [GRCh37]
Chr8:8q12.1		 uncertain significance
NM_002655.3(PLAG1):c.308G>A (p.Arg103Gln) single nucleotide variant not provided [RCV005054768] Chr8:56167438 [GRCh38]
Chr8:57079997 [GRCh37]
Chr8:8q12.1		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR107hsa-miR-107Mirecordsexternal_infoNANA19692702
MIR107hsa-miR-107OncomiRDBexternal_infoNANA19692702
MIR107hsa-miR-107Mirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19692702
MIR181A2hsa-miR-181a-5pMirtarbaseexternal_infoWestern blot//Luciferase reporter assay//MicroarraFunctional MTI19692702
MIR26A1hsa-miR-26a-5pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//Reporter asFunctional MTI16461460
MIR181A2hsa-miR-181a-5pOncomiRDBexternal_infoNANA19692702
MIR424hsa-miR-424-5pMirtarbaseexternal_infoWestern blot//Luciferase reporter assay//MicroarraFunctional MTI19692702
MIR424hsa-miR-424-5pMirecordsexternal_infoNANA19692702
MIR29Chsa-miR-29c-3pTarbaseexternal_infoSequencingPOSITIVE
MIR424hsa-miR-424-5pOncomiRDBexternal_infoNANA19692702
MIR181B2hsa-miR-181b-5pMirtarbaseexternal_infoWestern blot//Luciferase reporter assay//MicroarraFunctional MTI19692702
MIR181B2hsa-miR-181b-5pOncomiRDBexternal_infoNANA19692702
MIR144hsa-miR-144-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19347935
MIR26A2hsa-miR-26a-5pMirtarbaseexternal_infoLuciferase reporter assay//Microarray//Reporter asFunctional MTI16461460
MIR181B1hsa-miR-181b-5pMirtarbaseexternal_infoWestern blot//Luciferase reporter assay//MicroarraFunctional MTI19692702
MIR181B1hsa-miR-181b-5pOncomiRDBexternal_infoNANA19692702
MIR181A1hsa-miR-181a-5pMirtarbaseexternal_infoWestern blot//Luciferase reporter assay//MicroarraFunctional MTI19692702
MIR181A1hsa-miR-181a-5pOncomiRDBexternal_infoNANA19692702
MIR375hsa-miR-375Mirtarbaseexternal_infoLuciferase reporter assayFunctional MTI19347935

Predicted Target Of
Summary Value
Count of predictions:2738
Count of miRNA genes:1095
Interacting mature miRNAs:1386
Transcripts:ENST00000316981, ENST00000423799, ENST00000429357, ENST00000519027, ENST00000522009
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597279705GWAS1375779_HBMI-adjusted hip circumference QTL GWAS1375779 (human)1e-11BMI-adjusted hip circumferencehip circumference (CMO:0000014)85619948756199488Human
597042262GWAS1138336_Happendicular lean mass QTL GWAS1138336 (human)4e-09appendicular lean mass85621096456210965Human
597042260GWAS1138334_Happendicular lean mass QTL GWAS1138334 (human)3e-10appendicular lean mass85617498656174987Human
597102996GWAS1199070_Hplatelet crit QTL GWAS1199070 (human)3e-15platelet quantity (VT:0003179)plateletcrit (CMO:0001349)85616237156162372Human
597279706GWAS1375780_HBMI-adjusted hip circumference QTL GWAS1375780 (human)5e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)85619015956190160Human
597042261GWAS1138335_Happendicular lean mass QTL GWAS1138335 (human)2e-09appendicular lean mass85620965656209657Human
596966801GWAS1086320_Hbody height QTL GWAS1086320 (human)1e-39body height85616368256163683Human
597206365GWAS1302439_Hbirth weight QTL GWAS1302439 (human)1e-13birth weightneonatal body weight (CMO:0002079)85620965656209657Human
597592920GWAS1649780_Hplatelet count QTL GWAS1649780 (human)1e-17platelet quantity (VT:0003179)platelet count (CMO:0000029)85616291456162915Human
597088030GWAS1184104_Hmonocyte count QTL GWAS1184104 (human)4e-10monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)85619948756199488Human
597617623GWAS1674483_Hbody weight QTL GWAS1674483 (human)3e-25body mass (VT:0001259)body weight (CMO:0000012)85620965656209657Human
406949517GWAS598493_HBMI-adjusted hip circumference QTL GWAS598493 (human)9e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)85618324956183250Human
597188564GWAS1284638_Hpeak expiratory flow QTL GWAS1284638 (human)2e-09peak expiratory flowmaximum mid-expiratory flow (MMEF) (CMO:0000253)85621096456210965Human
406978510GWAS627486_Hheel bone mineral density QTL GWAS627486 (human)3e-19heel bone mineral densitybone mineral density (CMO:0001226)85620965656209657Human
597214295GWAS1310369_Hheel bone mineral density QTL GWAS1310369 (human)1e-11heel bone mineral densitybone mineral density (CMO:0001226)85620965656209657Human
597347787GWAS1443861_Hinterleukin 10 measurement QTL GWAS1443861 (human)6e-09interleukin 10 measurement85620388056203881Human
597196938GWAS1293012_Hvital capacity QTL GWAS1293012 (human)3e-08vital capacity85617807656178080Human
597034115GWAS1130189_Hlean body mass QTL GWAS1130189 (human)2e-17body lean mass (VT:0010483)total body lean mass (CMO:0003950)85620965656209657Human
597091264GWAS1187338_HBMI-adjusted hip circumference QTL GWAS1187338 (human)0.0000002BMI-adjusted hip circumferencehip circumference (CMO:0000014)85618324956183250Human
597033217GWAS1129291_Hlean body mass QTL GWAS1129291 (human)6e-33body lean mass (VT:0010483)total body lean mass (CMO:0003950)85620965656209657Human
597288256GWAS1384330_Hbody weight QTL GWAS1384330 (human)2e-41body mass (VT:0001259)body weight (CMO:0000012)85620965656209657Human
597330048GWAS1426122_Hsexual dimorphism measurement QTL GWAS1426122 (human)2e-15sexual dimorphism measurement85618324956183250Human
597291523GWAS1387597_Hbody mass index QTL GWAS1387597 (human)1e-09body mass indexbody mass index (BMI) (CMO:0000105)85619948756199488Human
2289597BW470_HBody weight QTL 470 (human)1.3Body weightBMI83977088765770887Human
597032949GWAS1129023_Hlean body mass QTL GWAS1129023 (human)2e-19body lean mass (VT:0010483)total body lean mass (CMO:0003950)85620965656209657Human
597335801GWAS1431875_Hsmoking initiation QTL GWAS1431875 (human)3e-09smoking initiation85616291456162915Human
596958705GWAS1078224_Hbody height QTL GWAS1078224 (human)1e-300body height85619948756199488Human
596976636GWAS1096155_Hbody height QTL GWAS1096155 (human)7e-10body height85616347656163477Human
597186420GWAS1282494_Hforced expiratory volume QTL GWAS1282494 (human)9e-20forced expiratory volumeforced expiratory volume (CMO:0000254)85618324956183250Human
597192055GWAS1288129_Hsexual dimorphism measurement QTL GWAS1288129 (human)3e-17sexual dimorphism measurement85620965656209657Human
596954340GWAS1073859_Hbody mass index QTL GWAS1073859 (human)1e-09body mass index85619948756199488Human
597199274GWAS1295348_Hlean body mass QTL GWAS1295348 (human)5e-31body lean mass (VT:0010483)total body lean mass (CMO:0003950)85617498656174987Human
597592875GWAS1649735_Hplatelet count QTL GWAS1649735 (human)9e-19platelet quantity (VT:0003179)platelet count (CMO:0000029)85616291456162915Human
1300005BP49_HBlood pressure QTL 49 (human)2.240.00066Blood pressuresystolic85317742079177420Human
597058720GWAS1154794_Hvital capacity QTL GWAS1154794 (human)3e-14vital capacity85617687256176873Human
597126177GWAS1222251_Happendicular lean mass QTL GWAS1222251 (human)7e-126appendicular lean mass85620965656209657Human
597134112GWAS1230186_Hbody weight QTL GWAS1230186 (human)1e-09body mass (VT:0001259)body weight (CMO:0000012)85618410256184103Human
597619113GWAS1675973_Hbody weight QTL GWAS1675973 (human)4e-27body mass (VT:0001259)body weight (CMO:0000012)85620965656209657Human
597319330GWAS1415404_Hbody surface area QTL GWAS1415404 (human)3e-11body surface area85619918756199188Human
407306750GWAS955726_Hlymphocyte count QTL GWAS955726 (human)1e-10lymphocyte countblood lymphocyte count (CMO:0000031)85619948756199488Human
406934520GWAS583496_Hheel bone mineral density QTL GWAS583496 (human)9e-14heel bone mineral densitybone mineral density (CMO:0001226)85620965656209657Human
596966445GWAS1085964_Hbody height QTL GWAS1085964 (human)4e-146body height85620965656209657Human
597319331GWAS1415405_Hbody surface area QTL GWAS1415405 (human)4e-49body surface area85620965656209657Human
597611747GWAS1668607_Hplatelet count QTL GWAS1668607 (human)2e-12platelet quantity (VT:0003179)platelet count (CMO:0000029)85616291456162915Human
597280358GWAS1376432_HBMI-adjusted hip circumference QTL GWAS1376432 (human)3e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)85617498656174987Human

Markers in Region
SGC34502  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,075,796 - 57,075,945UniSTSGRCh37
Build 36857,238,350 - 57,238,499RGDNCBI36
Celera853,066,588 - 53,066,737RGD
Cytogenetic Map8q12UniSTS
HuRef852,543,274 - 52,543,423UniSTS
GeneMap99-GB4 RH Map8300.77UniSTS
Whitehead-RH Map8315.0UniSTS
COL1A2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37794,060,096 - 94,060,245UniSTSGRCh37
GRCh37794,059,796 - 94,059,969UniSTSGRCh37
GRCh37794,024,276 - 94,024,413UniSTSGRCh37
Build 36793,862,212 - 93,862,349RGDNCBI36
Celera788,722,545 - 88,722,682RGD
Celera788,758,035 - 88,758,208UniSTS
Celera788,758,335 - 88,758,484UniSTS
HuRef788,631,982 - 88,632,119UniSTS
HuRef788,667,480 - 88,667,653UniSTS
HuRef788,667,780 - 88,667,929UniSTS
CRA_TCAGchr7v2793,353,455 - 93,353,592UniSTS
CRA_TCAGchr7v2793,389,245 - 93,389,394UniSTS
CRA_TCAGchr7v2793,388,945 - 93,389,118UniSTS
D8S2308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,098,688 - 57,098,871UniSTSGRCh37
Build 36857,261,242 - 57,261,425RGDNCBI36
Celera853,089,484 - 53,089,667RGD
HuRef852,566,089 - 52,566,272UniSTS
D8S2313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,121,603 - 57,121,693UniSTSGRCh37
Build 36857,284,157 - 57,284,247RGDNCBI36
Celera853,112,398 - 53,112,488RGD
HuRef852,588,998 - 52,589,088UniSTS
A009Z02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,075,902 - 57,076,078UniSTSGRCh37
Build 36857,238,456 - 57,238,632RGDNCBI36
Celera853,066,694 - 53,066,870RGD
Cytogenetic Map8q12UniSTS
HuRef852,543,380 - 52,543,556UniSTS
GeneMap99-GB4 RH Map8315.9UniSTS
NCBI RH Map8785.4UniSTS
G33002  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37857,075,902 - 57,076,078UniSTSGRCh37
Celera853,066,694 - 53,066,870UniSTS
Cytogenetic Map8q12UniSTS
HuRef852,543,380 - 52,543,556UniSTS
RH12848  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q12UniSTS
GeneMap99-GB4 RH Map8316.07UniSTS
NCBI RH Map8785.4UniSTS
COL1A2  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8q12UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2434 2788 2253 4972 1718 2336 6 616 1945 457 2269 7285 6466 53 3731 1 849 1741 1610 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001114634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001114635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A69511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF221549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF221550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA225321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC347559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF525168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF525169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF525170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U65002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000316981   ⟹   ENSP00000325546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,160,909 - 56,211,273 (-)Ensembl
Ensembl Acc Id: ENST00000423799   ⟹   ENSP00000404067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,166,099 - 56,211,300 (-)Ensembl
Ensembl Acc Id: ENST00000429357   ⟹   ENSP00000416537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,166,243 - 56,211,300 (-)Ensembl
Ensembl Acc Id: ENST00000519027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,209,253 - 56,211,324 (-)Ensembl
Ensembl Acc Id: ENST00000522009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl856,166,034 - 56,171,424 (-)Ensembl
RefSeq Acc Id: NM_001114634   ⟹   NP_001108106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,160,909 - 56,211,273 (-)NCBI
GRCh37857,073,463 - 57,123,859 (-)NCBI
HuRef852,540,946 - 52,591,254 (-)ENTREZGENE
CHM1_1857,125,297 - 57,175,697 (-)NCBI
T2T-CHM13v2.0856,537,883 - 56,588,262 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001114635   ⟹   NP_001108107
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,160,909 - 56,211,273 (-)NCBI
GRCh37857,073,463 - 57,123,859 (-)NCBI
HuRef852,540,946 - 52,591,254 (-)ENTREZGENE
CHM1_1857,125,297 - 57,175,697 (-)NCBI
T2T-CHM13v2.0856,537,883 - 56,588,262 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002655   ⟹   NP_002646
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,160,909 - 56,211,273 (-)NCBI
GRCh37857,073,463 - 57,123,859 (-)NCBI
Build 36857,236,037 - 57,286,392 (-)NCBI Archive
HuRef852,540,946 - 52,591,254 (-)ENTREZGENE
CHM1_1857,125,297 - 57,175,697 (-)NCBI
T2T-CHM13v2.0856,537,883 - 56,588,262 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013576   ⟹   XP_016869065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,160,909 - 56,211,273 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047421866   ⟹   XP_047277822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,160,909 - 56,177,982 (-)NCBI
RefSeq Acc Id: XM_047421867   ⟹   XP_047277823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38856,160,909 - 56,177,982 (-)NCBI
RefSeq Acc Id: XM_054360657   ⟹   XP_054216632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0856,537,883 - 56,588,262 (-)NCBI
RefSeq Acc Id: XM_054360658   ⟹   XP_054216633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0856,537,883 - 56,554,959 (-)NCBI
RefSeq Acc Id: XM_054360659   ⟹   XP_054216634
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0856,537,883 - 56,554,959 (-)NCBI
RefSeq Acc Id: NP_001108107   ⟸   NM_001114635
- Peptide Label: isoform b
- UniProtKB: B2R968 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001108106   ⟸   NM_001114634
- Peptide Label: isoform a
- UniProtKB: Q59GH8 (UniProtKB/Swiss-Prot),   B4DLC2 (UniProtKB/Swiss-Prot),   Q9Y4L2 (UniProtKB/Swiss-Prot),   Q6DJT9 (UniProtKB/Swiss-Prot),   B2R968 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002646   ⟸   NM_002655
- Peptide Label: isoform a
- UniProtKB: Q59GH8 (UniProtKB/Swiss-Prot),   B4DLC2 (UniProtKB/Swiss-Prot),   Q9Y4L2 (UniProtKB/Swiss-Prot),   Q6DJT9 (UniProtKB/Swiss-Prot),   B2R968 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869065   ⟸   XM_017013576
- Peptide Label: isoform X1
- UniProtKB: Q59GH8 (UniProtKB/Swiss-Prot),   B4DLC2 (UniProtKB/Swiss-Prot),   Q9Y4L2 (UniProtKB/Swiss-Prot),   Q6DJT9 (UniProtKB/Swiss-Prot),   B2R968 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000404067   ⟸   ENST00000423799
Ensembl Acc Id: ENSP00000416537   ⟸   ENST00000429357
Ensembl Acc Id: ENSP00000325546   ⟸   ENST00000316981
RefSeq Acc Id: XP_047277822   ⟸   XM_047421866
- Peptide Label: isoform X2
- UniProtKB: B2R968 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047277823   ⟸   XM_047421867
- Peptide Label: isoform X2
- UniProtKB: B2R968 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216632   ⟸   XM_054360657
- Peptide Label: isoform X1
- UniProtKB: B2R968 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216633   ⟸   XM_054360658
- Peptide Label: isoform X2
- UniProtKB: B2R968 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054216634   ⟸   XM_054360659
- Peptide Label: isoform X2
- UniProtKB: B2R968 (UniProtKB/TrEMBL)
Protein Domains
C2H2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6DJT9-F1-model_v2 AlphaFold Q6DJT9 1-500 view protein structure

Promoters
RGD ID:7213341
Promoter ID:EPDNEW_H12416
Type:initiation region
Name:PLAG1_1
Description:PLAG1 zinc finger
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
GRCh38856,211,273 - 56,211,333EPDNEW
RGD ID:6806581
Promoter ID:HG_KWN:61328
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000396728,   ENST00000399611,   NM_001011667,   NM_001011668,   NM_001011669,   NM_001011670,   NM_001011671,   NM_001114634,   NM_001114635,   NM_002655,   NM_024300
Position:
Human AssemblyChrPosition (strand)Source
Build 36857,285,691 - 57,287,022 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9045 AgrOrtholog
COSMIC PLAG1 COSMIC
Ensembl Genes ENSG00000181690 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000316981 ENTREZGENE
  ENST00000316981.8 UniProtKB/Swiss-Prot
  ENST00000423799 ENTREZGENE
  ENST00000423799.6 UniProtKB/Swiss-Prot
  ENST00000429357 ENTREZGENE
  ENST00000429357.2 UniProtKB/Swiss-Prot
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000181690 GTEx
HGNC ID HGNC:9045 ENTREZGENE
Human Proteome Map PLAG1 Human Proteome Map
InterPro Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5324 UniProtKB/Swiss-Prot
NCBI Gene 5324 ENTREZGENE
OMIM 603026 OMIM
PANTHER ZINC FINGER AND BTB DOMAIN-CONTAINING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC FINGER PROTEIN PLAGL1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C2H2_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33378 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A7IT79_HUMAN UniProtKB/TrEMBL
  A7IT80_HUMAN UniProtKB/TrEMBL
  B2R968 ENTREZGENE, UniProtKB/TrEMBL
  B4DLC2 ENTREZGENE
  PLAG1_HUMAN UniProtKB/Swiss-Prot
  Q59GH8 ENTREZGENE
  Q6DJT9 ENTREZGENE
  Q9Y4L2 ENTREZGENE
UniProt Secondary B4DLC2 UniProtKB/Swiss-Prot
  Q59GH8 UniProtKB/Swiss-Prot
  Q9Y4L2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 PLAG1  PLAG1 zinc finger  PLAG1  pleiomorphic adenoma gene 1  Symbol and/or name change 5135510 APPROVED