PPP4R1 (protein phosphatase 4 regulatory subunit 1) - Rat Genome Database

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Gene: PPP4R1 (protein phosphatase 4 regulatory subunit 1) Homo sapiens
Analyze
Symbol: PPP4R1
Name: protein phosphatase 4 regulatory subunit 1
RGD ID: 735851
HGNC Page HGNC:9320
Description: Predicted to enable protein phosphatase regulator activity. Predicted to contribute to phosphoprotein phosphatase activity. Predicted to be involved in protein phosphorylation. Predicted to be part of protein phosphatase 4 complex. Predicted to be active in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MEG1; PP4(Rmeg); PP4R1; serine/threonine phosphatase 4; serine/threonine-protein phosphatase 4 regulatory subunit 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PPP4R1L  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38189,546,794 - 9,617,199 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl189,546,791 - 9,615,240 (-)EnsemblGRCh38hg38GRCh38
GRCh37189,546,792 - 9,614,557 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36189,536,792 - 9,604,600 (-)NCBINCBI36Build 36hg18NCBI36
Build 34189,536,841 - 9,604,567NCBI
Celera189,431,022 - 9,498,791 (-)NCBICelera
Cytogenetic Map18p11.22NCBI
HuRef189,509,276 - 9,576,873 (-)NCBIHuRef
CHM1_1189,546,520 - 9,614,326 (-)NCBICHM1_1
T2T-CHM13v2.0189,710,190 - 9,781,391 (-)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

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:9110174   PMID:10026142   PMID:11729228   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15805470   PMID:16085932   PMID:17043677   PMID:17353931   PMID:18347064  
PMID:18614045   PMID:18715871   PMID:19156129   PMID:20379614   PMID:21873635   PMID:22863883   PMID:23084358   PMID:25134449   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26496610  
PMID:26673895   PMID:26972000   PMID:27880917   PMID:28445980   PMID:28514442   PMID:28986522   PMID:29117863   PMID:30480076   PMID:31091453   PMID:31980649   PMID:32077156   PMID:32572027  
PMID:32694731   PMID:33961781   PMID:34079125   PMID:35271311   PMID:35563538   PMID:35831314   PMID:35914814   PMID:35944360   PMID:36114006   PMID:36215168   PMID:37689310   PMID:37739270  
PMID:38301910   PMID:38424148   PMID:38580884   PMID:38777146  


Genomics

Comparative Map Data
PPP4R1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38189,546,794 - 9,617,199 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl189,546,791 - 9,615,240 (-)EnsemblGRCh38hg38GRCh38
GRCh37189,546,792 - 9,614,557 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36189,536,792 - 9,604,600 (-)NCBINCBI36Build 36hg18NCBI36
Build 34189,536,841 - 9,604,567NCBI
Celera189,431,022 - 9,498,791 (-)NCBICelera
Cytogenetic Map18p11.22NCBI
HuRef189,509,276 - 9,576,873 (-)NCBIHuRef
CHM1_1189,546,520 - 9,614,326 (-)NCBICHM1_1
T2T-CHM13v2.0189,710,190 - 9,781,391 (-)NCBIT2T-CHM13v2.0
Ppp4r1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391766,089,253 - 66,148,921 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1766,089,568 - 66,148,921 (+)EnsemblGRCm39 Ensembl
GRCm381765,782,543 - 65,841,926 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1765,782,573 - 65,841,926 (+)EnsemblGRCm38mm10GRCm38
MGSCv371766,132,695 - 66,191,266 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361765,719,688 - 65,741,389 (+)NCBIMGSCv36mm8
Celera1770,106,657 - 70,145,143 (+)NCBICelera
Cytogenetic Map17E1.1NCBI
cM Map1735.26NCBI
Ppp4r1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr89112,836,950 - 112,897,490 (+)NCBIGRCr8
mRatBN7.29105,391,271 - 105,450,626 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl9105,391,412 - 105,450,633 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx9113,798,599 - 113,859,120 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09118,905,997 - 118,969,026 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.09117,264,559 - 117,324,969 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.09113,515,312 - 113,573,308 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl9113,534,326 - 113,573,307 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.09113,066,545 - 113,105,528 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.49104,572,704 - 104,611,601 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.19104,782,185 - 104,821,080 (+)NCBI
Celera9102,770,161 - 102,827,110 (+)NCBICelera
Cytogenetic Map9q37NCBI
Ppp4r1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554022,515,057 - 2,568,860 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554022,529,335 - 2,568,621 (+)NCBIChiLan1.0ChiLan1.0
PPP4R1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21728,835,624 - 28,906,818 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11814,528,218 - 14,599,412 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0184,671,010 - 4,742,301 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1186,957,754 - 7,022,996 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl186,974,934 - 7,022,996 (+)Ensemblpanpan1.1panPan2
PPP4R1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1775,524,483 - 75,582,850 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl775,525,249 - 75,583,553 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha774,920,570 - 74,981,437 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0775,583,143 - 75,644,350 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl775,583,161 - 75,644,272 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1775,281,276 - 75,342,393 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0775,298,587 - 75,360,124 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0775,608,737 - 75,670,013 (-)NCBIUU_Cfam_GSD_1.0
Ppp4r1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049442,547,917 - 2,597,873 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366261,790,837 - 1,826,245 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366261,776,194 - 1,826,243 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPP4R1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl698,462,855 - 98,544,477 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1698,462,833 - 98,539,649 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PPP4R1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11868,417,293 - 68,488,683 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1868,418,292 - 68,488,176 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605043,369,057 - 43,441,048 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppp4r1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477018,150,135 - 18,206,898 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477018,150,135 - 18,206,835 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPP4R1
59 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1 copy number loss See cases [RCV000051027] Chr18:148963..13715860 [GRCh38]
Chr18:148963..13715859 [GRCh37]
Chr18:138963..13705859 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051153]|See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000051154] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.22(chr18:9518608-10784749)x1 copy number loss See cases [RCV000052075] Chr18:9518608..10784749 [GRCh38]
Chr18:9518606..10784747 [GRCh37]
Chr18:9508606..10774747 [NCBI36]
Chr18:18p11.22		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3 copy number gain See cases [RCV000052535] Chr18:1919684..15325188 [GRCh38]
Chr18:1919685..15325187 [GRCh37]
Chr18:1909685..15315187 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.31-11.21(chr18:3389362-14082029)x3 copy number gain See cases [RCV000052536] Chr18:3389362..14082029 [GRCh38]
Chr18:3389360..14082028 [GRCh37]
Chr18:3379360..14072028 [NCBI36]
Chr18:18p11.31-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3 copy number gain See cases [RCV000052499] Chr18:10001..15380684 [GRCh38]
Chr18:10001..15380683 [GRCh37]
Chr18:1..15370683 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3 copy number gain See cases [RCV000052504] Chr18:53345..20948503 [GRCh38]
Chr18:53345..18528464 [GRCh37]
Chr18:43345..16782462 [NCBI36]
Chr18:18p11.32-q11.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3 copy number gain See cases [RCV000052513] Chr18:148963..21040153 [GRCh38]
Chr18:148963..18620114 [GRCh37]
Chr18:138963..16874112 [NCBI36]
Chr18:18p11.32-q11.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1 copy number loss See cases [RCV000053461] Chr18:131700..14226905 [GRCh38]
Chr18:131700..14226904 [GRCh37]
Chr18:121700..14216904 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1 copy number loss See cases [RCV000053457] Chr18:112259..14122522 [GRCh38]
Chr18:112259..14122521 [GRCh37]
Chr18:102259..14112521 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1 copy number loss See cases [RCV000053458] Chr18:131700..15121055 [GRCh38]
Chr18:131700..15121054 [GRCh37]
Chr18:121700..15111054 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1 copy number loss See cases [RCV000053781] Chr18:131700..10536767 [GRCh38]
Chr18:131700..10536764 [GRCh37]
Chr18:121700..10526764 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1 copy number loss See cases [RCV000053784] Chr18:148963..13530126 [GRCh38]
Chr18:148963..13530125 [GRCh37]
Chr18:138963..13520125 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1 copy number loss See cases [RCV000053787] Chr18:148963..13068104 [GRCh38]
Chr18:148963..13068103 [GRCh37]
Chr18:138963..13058103 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.31-11.22(chr18:7154668-10068356)x1 copy number loss See cases [RCV000053828] Chr18:7154668..10068356 [GRCh38]
Chr18:7154667..10068353 [GRCh37]
Chr18:7144667..10058353 [NCBI36]
Chr18:18p11.31-11.22		 pathogenic
NM_001042388.2(PPP4R1):c.1581G>A (p.Val527=) single nucleotide variant Malignant melanoma [RCV000063418] Chr18:9563543 [GRCh38]
Chr18:9563541 [GRCh37]
Chr18:9553541 [NCBI36]
Chr18:18p11.22		 not provided
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x3 copy number gain See cases [RCV000051153] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4 copy number gain See cases [RCV000135515] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3 copy number gain See cases [RCV000136590] Chr18:2425507..11904118 [GRCh38]
Chr18:2425506..11904117 [GRCh37]
Chr18:2415506..11894117 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1 copy number loss See cases [RCV000136860] Chr18:180229..10762632 [GRCh38]
Chr18:180229..10762630 [GRCh37]
Chr18:170229..10752630 [NCBI36]
Chr18:18p11.32-11.22		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1 copy number loss See cases [RCV000137105] Chr18:148963..10900517 [GRCh38]
Chr18:148963..10900515 [GRCh37]
Chr18:138963..10890515 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1 copy number loss See cases [RCV000137503] Chr18:7290175..13049470 [GRCh38]
Chr18:7290173..13049469 [GRCh37]
Chr18:7280173..13039469 [NCBI36]
Chr18:18p11.23-11.21		 likely pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4 copy number gain See cases [RCV000137456] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1 copy number loss See cases [RCV000137457] Chr18:118760..14089410 [GRCh38]
Chr18:118760..14089409 [GRCh37]
Chr18:108760..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1 copy number loss See cases [RCV000138101] Chr18:133157..14089410 [GRCh38]
Chr18:133157..14089409 [GRCh37]
Chr18:123157..14079409 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.22(chr18:9026805-9592203)x3 copy number gain See cases [RCV000139023] Chr18:9026805..9592203 [GRCh38]
Chr18:9026803..9592201 [GRCh37]
Chr18:9016803..9582201 [NCBI36]
Chr18:18p11.22		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006) copy number gain See cases [RCV000140442] Chr18:136226..15175006 [GRCh38]
Chr18:136226..15175005 [GRCh37]
Chr18:126226..15165005 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3 copy number gain See cases [RCV000141427] Chr18:14316..14206225 [GRCh38]
Chr18:14316..14206224 [GRCh37]
Chr18:4316..14196224 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1 copy number loss See cases [RCV000141086] Chr18:118760..15024003 [GRCh38]
Chr18:118760..15024002 [GRCh37]
Chr18:108760..15014002 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1 copy number loss See cases [RCV000141627] Chr18:48782..14978076 [GRCh38]
Chr18:48782..14978075 [GRCh37]
Chr18:38782..14968075 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1 copy number loss See cases [RCV000142225] Chr18:958974..11954935 [GRCh38]
Chr18:958975..11954934 [GRCh37]
Chr18:948975..11944934 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3 copy number gain See cases [RCV000143075] Chr18:8779843..24685379 [GRCh38]
Chr18:8779841..22265343 [GRCh37]
Chr18:8769841..20519341 [NCBI36]
Chr18:18p11.22-q11.2		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4 copy number gain See cases [RCV000143434] Chr18:136226..15198991 [GRCh38]
Chr18:136226..15198990 [GRCh37]
Chr18:126226..15188990 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3 copy number gain See cases [RCV000143194] Chr18:118760..12642431 [GRCh38]
Chr18:118760..12642430 [GRCh37]
Chr18:108760..12632430 [NCBI36]
Chr18:18p11.32-11.21		 uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3 copy number gain See cases [RCV000143477] Chr18:136226..14337134 [GRCh38]
Chr18:136226..14337133 [GRCh37]
Chr18:126226..14327133 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1 copy number loss See cases [RCV000148129] Chr18:148963..14081888 [GRCh38]
Chr18:148963..14081887 [GRCh37]
Chr18:138963..14071887 [NCBI36]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain See cases [RCV000449034] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.22(chr18:9450518-9547947)x3 copy number gain Premature ovarian failure [RCV000225153] Chr18:9450518..9547947 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:163323-14103971)x1 copy number loss See cases [RCV000239938] Chr18:163323..14103971 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:163323-15102598)x4 copy number gain See cases [RCV000240029] Chr18:163323..15102598 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:14316-15328499)x1 copy number loss See cases [RCV000240281] Chr18:14316..15328499 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:14316-10784606)x1 copy number loss See cases [RCV000240555] Chr18:14316..10784606 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1 copy number loss See cases [RCV000599143] Chr18:13034..15375878 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-9789368)x3 copy number gain See cases [RCV000446104] Chr18:136226..9789368 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:4465872-15198990)x3 copy number gain See cases [RCV000447359] Chr18:4465872..15198990 [GRCh37]
Chr18:18p11.31-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain See cases [RCV000445796] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)x1 copy number loss See cases [RCV000449008] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18534784)x4 copy number gain See cases [RCV000447836] Chr18:136226..18534784 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3 copy number gain See cases [RCV000512118] Chr18:136226..21657790 [GRCh37]
Chr18:18p11.32-q11.2		 pathogenic
GRCh37/hg19 18p11.22(chr18:9550555-10226359)x3 copy number gain See cases [RCV000510646] Chr18:9550555..10226359 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:2737126-9660466)x3 copy number gain See cases [RCV000511962] Chr18:2737126..9660466 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3 copy number gain See cases [RCV000511520] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic|uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1 copy number loss See cases [RCV000511826] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4 copy number gain See cases [RCV000511949] Chr18:136226..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001042388.3(PPP4R1):c.2144A>T (p.Asp715Val) single nucleotide variant not specified [RCV004308205] Chr18:9557267 [GRCh38]
Chr18:9557265 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.643C>T (p.Pro215Ser) single nucleotide variant not specified [RCV004284446] Chr18:9584771 [GRCh38]
Chr18:9584769 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1 copy number loss See cases [RCV000515578] Chr18:13034..15026309 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_001042388.3(PPP4R1):c.2761C>T (p.Arg921Cys) single nucleotide variant not specified [RCV004307656] Chr18:9547881 [GRCh38]
Chr18:9547879 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1 copy number loss See cases [RCV000512162] Chr18:1..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1 copy number loss See cases [RCV000512537] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10074733)x1 copy number loss not provided [RCV000684046] Chr18:136226..10074733 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-12767079)x1 copy number loss not provided [RCV000684048] Chr18:136226..12767079 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4 copy number gain not provided [RCV000684052] Chr18:136226..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1 copy number loss not provided [RCV000684053] Chr18:136226..15198989 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4 copy number gain not provided [RCV000684054] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3 copy number gain not provided [RCV000684051] Chr18:958974..15181666 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.22(chr18:9550555-9833631)x3 copy number gain not provided [RCV000683991] Chr18:9550555..9833631 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.23-11.22(chr18:7486105-9557565)x3 copy number gain not provided [RCV000684029] Chr18:7486105..9557565 [GRCh37]
Chr18:18p11.23-11.22		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:124335-14139006)x1 copy number loss not provided [RCV000752249] Chr18:124335..14139006 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:971295-11250447)x1 copy number loss not provided [RCV001006944] Chr18:971295..11250447 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_001042388.3(PPP4R1):c.125A>G (p.Asp42Gly) single nucleotide variant not specified [RCV004311122] Chr18:9595081 [GRCh38]
Chr18:9595079 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.22(chr18:9285823-9559924)x1 copy number loss not provided [RCV001006942] Chr18:9285823..9559924 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1 copy number loss not provided [RCV001006952] Chr18:136304..15143714 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1 copy number loss not provided [RCV001006953] Chr18:136226..15175005 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1 copy number loss not provided [RCV001006954] Chr18:136226..18529578 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
NC_000018.9:g.(?_9102742)_(12725530_?)dup duplication Dystonic disorder [RCV003105519] Chr18:9102742..12725530 [GRCh37]
Chr18:18p11.22-11.21		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1 copy number loss See cases [RCV001007421] Chr18:13034..15330525 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.23-11.22(chr18:8165369-9557565)x3 copy number gain not provided [RCV001006941] Chr18:8165369..9557565 [GRCh37]
Chr18:18p11.23-11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1 copy number loss not provided [RCV001006947] Chr18:136226..13894429 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1 copy number loss See cases [RCV002285056] Chr18:136226..14632436 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1 copy number loss not provided [RCV001258695] Chr18:7598173..15422644 [GRCh37]
Chr18:18p11.23-11.1		 pathogenic
Single allele deletion Deletion of short arm of chromosome 18 [RCV001391667] Chr18:2656075..13885536 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.22-11.21(chr18:9569601-12218695)x1 copy number loss See cases [RCV002285046] Chr18:9569601..12218695 [GRCh37]
Chr18:18p11.22-11.21		 pathogenic
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1 copy number loss Deletion of short arm of chromosome 18 [RCV001801193] Chr18:10501..15410398 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326) copy number gain not specified [RCV002052611] Chr18:136226..14384326 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number gain not specified [RCV002052613] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990) copy number loss not specified [RCV002052614] Chr18:136226..15198990 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3 copy number gain not provided [RCV001832915] Chr18:136226..25252276 [GRCh37]
Chr18:18p11.32-q12.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938) copy number loss not specified [RCV002052612] Chr18:136226..14983938 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146) copy number loss not specified [RCV002052610] Chr18:136226..13655146 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_001042388.3(PPP4R1):c.2837C>T (p.Ala946Val) single nucleotide variant not specified [RCV004306478] Chr18:9547805 [GRCh38]
Chr18:9547803 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941) copy number loss Deletion of short arm of chromosome 18 [RCV002280710] Chr18:136226..10172941 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3 copy number gain not provided [RCV002276058] Chr18:47390..14854037 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_001042388.3(PPP4R1):c.1823A>G (p.Glu608Gly) single nucleotide variant not specified [RCV004282061] Chr18:9561999 [GRCh38]
Chr18:9561997 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.286G>T (p.Asp96Tyr) single nucleotide variant not specified [RCV004322498] Chr18:9593777 [GRCh38]
Chr18:9593775 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.22(chr18:8585096-9660466)x1 copy number loss not provided [RCV002473808] Chr18:8585096..9660466 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1 copy number loss not provided [RCV002472559] Chr18:136227..11283184 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_001042388.3(PPP4R1):c.209T>C (p.Leu70Ser) single nucleotide variant not specified [RCV004233310] Chr18:9593854 [GRCh38]
Chr18:9593852 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1567G>A (p.Val523Ile) single nucleotide variant not specified [RCV004191193] Chr18:9570163 [GRCh38]
Chr18:9570161 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1346A>T (p.Asp449Val) single nucleotide variant not specified [RCV004191243] Chr18:9570384 [GRCh38]
Chr18:9570382 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.180A>G (p.Ile60Met) single nucleotide variant not specified [RCV004128146] Chr18:9595026 [GRCh38]
Chr18:9595024 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1597G>A (p.Ala533Thr) single nucleotide variant not specified [RCV004100615] Chr18:9563527 [GRCh38]
Chr18:9563525 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.114T>G (p.Phe38Leu) single nucleotide variant not specified [RCV004196980] Chr18:9595092 [GRCh38]
Chr18:9595090 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1297A>G (p.Met433Val) single nucleotide variant not specified [RCV004138363] Chr18:9570433 [GRCh38]
Chr18:9570431 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.602C>T (p.Ala201Val) single nucleotide variant not specified [RCV004155919] Chr18:9584812 [GRCh38]
Chr18:9584810 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.26A>G (p.Glu9Gly) single nucleotide variant not specified [RCV004124093] Chr18:9614252 [GRCh38]
Chr18:9614250 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.2695T>A (p.Phe899Ile) single nucleotide variant not specified [RCV004171641] Chr18:9547947 [GRCh38]
Chr18:9547945 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1400A>T (p.Asp467Val) single nucleotide variant not specified [RCV004245230] Chr18:9570330 [GRCh38]
Chr18:9570328 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.2000C>T (p.Thr667Met) single nucleotide variant not specified [RCV004179103] Chr18:9559447 [GRCh38]
Chr18:9559445 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.386C>T (p.Ser129Leu) single nucleotide variant not specified [RCV004156550] Chr18:9588763 [GRCh38]
Chr18:9588761 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.2154G>T (p.Arg718Ser) single nucleotide variant not specified [RCV004135473] Chr18:9557257 [GRCh38]
Chr18:9557255 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1999A>G (p.Thr667Ala) single nucleotide variant not specified [RCV004107015] Chr18:9559448 [GRCh38]
Chr18:9559446 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1996G>C (p.Glu666Gln) single nucleotide variant not specified [RCV004114301] Chr18:9559451 [GRCh38]
Chr18:9559449 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1288T>C (p.Tyr430His) single nucleotide variant not specified [RCV004156504] Chr18:9570442 [GRCh38]
Chr18:9570440 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.635T>A (p.Leu212His) single nucleotide variant not specified [RCV004209618] Chr18:9584779 [GRCh38]
Chr18:9584777 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.311C>T (p.Ala104Val) single nucleotide variant not specified [RCV004078047] Chr18:9588838 [GRCh38]
Chr18:9588836 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.497G>A (p.Arg166Gln) single nucleotide variant not specified [RCV004236304] Chr18:9588177 [GRCh38]
Chr18:9588175 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.178A>G (p.Ile60Val) single nucleotide variant not specified [RCV004083037] Chr18:9595028 [GRCh38]
Chr18:9595026 [GRCh37]
Chr18:18p11.22		 likely benign
NM_001042388.3(PPP4R1):c.2537T>C (p.Phe846Ser) single nucleotide variant not specified [RCV004215916] Chr18:9550062 [GRCh38]
Chr18:9550060 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1715A>G (p.Asp572Gly) single nucleotide variant not specified [RCV004135275] Chr18:9563409 [GRCh38]
Chr18:9563407 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.2456C>T (p.Thr819Met) single nucleotide variant not specified [RCV004077444] Chr18:9550143 [GRCh38]
Chr18:9550141 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035) copy number loss Deletion of short arm of chromosome 18 [RCV003159575] Chr18:1..15400035 [GRCh37]
Chr18:18p11.32-11.1		 pathogenic
NM_001042388.3(PPP4R1):c.529C>G (p.Leu177Val) single nucleotide variant not specified [RCV004290155] Chr18:9588145 [GRCh38]
Chr18:9588143 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.490A>G (p.Ile164Val) single nucleotide variant not specified [RCV004327889] Chr18:9588184 [GRCh38]
Chr18:9588182 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1 copy number loss Deletion of short arm of chromosome 18 [RCV003327630] Chr18:158286..14124574 [GRCh38]
Chr18:18p11.32-11.21		 pathogenic
NM_001042388.3(PPP4R1):c.609G>T (p.Met203Ile) single nucleotide variant not specified [RCV004364080] Chr18:9584805 [GRCh38]
Chr18:9584803 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.2059A>G (p.Ile687Val) single nucleotide variant not specified [RCV004361325] Chr18:9557352 [GRCh38]
Chr18:9557350 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.35A>T (p.Gln12Leu) single nucleotide variant not specified [RCV004350858] Chr18:9614243 [GRCh38]
Chr18:9614241 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1 copy number loss not provided [RCV003483328] Chr18:136227..14585159 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.22(chr18:9609466-10792750)x3 copy number gain not provided [RCV003485173] Chr18:9609466..10792750 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4 copy number gain not provided [RCV003485366] Chr18:136227..18521285 [GRCh37]
Chr18:18p11.32-q11.1		 pathogenic
NM_001042388.3(PPP4R1):c.2630G>T (p.Arg877Met) single nucleotide variant not specified [RCV004510141] Chr18:9549256 [GRCh38]
Chr18:9549254 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.2020G>T (p.Asp674Tyr) single nucleotide variant not specified [RCV004510139] Chr18:9559427 [GRCh38]
Chr18:9559425 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1432G>A (p.Gly478Arg) single nucleotide variant not specified [RCV004510134] Chr18:9570298 [GRCh38]
Chr18:9570296 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1429G>A (p.Gly477Arg) single nucleotide variant not specified [RCV004510133] Chr18:9570301 [GRCh38]
Chr18:9570299 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1184T>G (p.Leu395Arg) single nucleotide variant not specified [RCV004510130] Chr18:9570546 [GRCh38]
Chr18:9570544 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.2549C>T (p.Thr850Ile) single nucleotide variant not specified [RCV004510140] Chr18:9549337 [GRCh38]
Chr18:9549335 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.2742C>G (p.Ile914Met) single nucleotide variant not specified [RCV004510143] Chr18:9547900 [GRCh38]
Chr18:9547898 [GRCh37]
Chr18:18p11.22		 uncertain significance
GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1 copy number loss not specified [RCV003987287] Chr18:136226..15161581 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3 copy number gain not specified [RCV003987271] Chr18:2922899..15198990 [GRCh37]
Chr18:18p11.31-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3 copy number gain not specified [RCV003986102] Chr18:136227..15157836 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3 copy number gain not specified [RCV003987266] Chr18:136226..14148354 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3 copy number gain not specified [RCV003987269] Chr18:136226..14455323 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1 copy number loss not specified [RCV003987270] Chr18:136226..10365982 [GRCh37]
Chr18:18p11.32-11.22		 pathogenic
GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1 copy number loss not specified [RCV003987292] Chr18:136226..14352648 [GRCh37]
Chr18:18p11.32-11.21		 pathogenic
NM_001042388.3(PPP4R1):c.2828T>C (p.Met943Thr) single nucleotide variant not specified [RCV004510144] Chr18:9547814 [GRCh38]
Chr18:9547812 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.2669G>A (p.Arg890Lys) single nucleotide variant not specified [RCV004510142] Chr18:9549217 [GRCh38]
Chr18:9549215 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.362G>A (p.Arg121Gln) single nucleotide variant not specified [RCV004510145] Chr18:9588787 [GRCh38]
Chr18:9588785 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1487C>G (p.Ser496Cys) single nucleotide variant not specified [RCV004510136] Chr18:9570243 [GRCh38]
Chr18:9570241 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1445C>G (p.Pro482Arg) single nucleotide variant not specified [RCV004510135] Chr18:9570285 [GRCh38]
Chr18:9570283 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1268A>G (p.Asn423Ser) single nucleotide variant not specified [RCV004510131] Chr18:9570462 [GRCh38]
Chr18:9570460 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.897G>T (p.Leu299Phe) single nucleotide variant not specified [RCV004510146] Chr18:9583138 [GRCh38]
Chr18:9583136 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1501A>G (p.Met501Val) single nucleotide variant not specified [RCV004510138] Chr18:9570229 [GRCh38]
Chr18:9570227 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.149G>A (p.Arg50Lys) single nucleotide variant not specified [RCV004510137] Chr18:9595057 [GRCh38]
Chr18:9595055 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.667G>A (p.Asp223Asn) single nucleotide variant not specified [RCV004660004] Chr18:9584747 [GRCh38]
Chr18:9584745 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.901A>G (p.Ser301Gly) single nucleotide variant not specified [RCV004656316] Chr18:9583134 [GRCh38]
Chr18:9583132 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.1325C>T (p.Ser442Leu) single nucleotide variant not specified [RCV004656317] Chr18:9570405 [GRCh38]
Chr18:9570403 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.719T>C (p.Ile240Thr) single nucleotide variant not specified [RCV004660005] Chr18:9584555 [GRCh38]
Chr18:9584553 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.648G>T (p.Arg216Ser) single nucleotide variant not specified [RCV004660006] Chr18:9584766 [GRCh38]
Chr18:9584764 [GRCh37]
Chr18:18p11.22		 uncertain significance
NM_001042388.3(PPP4R1):c.2110G>C (p.Val704Leu) single nucleotide variant not specified [RCV004660003] Chr18:9557301 [GRCh38]
Chr18:9557299 [GRCh37]
Chr18:18p11.22		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6813
Count of miRNA genes:1349
Interacting mature miRNAs:1779
Transcripts:ENST00000285124, ENST00000400555, ENST00000400556, ENST00000577393, ENST00000577667, ENST00000577779, ENST00000578010, ENST00000578178, ENST00000578329, ENST00000578557, ENST00000578875, ENST00000579415, ENST00000579609, ENST00000579638, ENST00000580182, ENST00000580283, ENST00000580583, ENST00000580745, ENST00000581250, ENST00000581835, ENST00000582240, ENST00000582594, ENST00000582933, ENST00000583092, ENST00000583438, ENST00000583903, ENST00000583988, ENST00000584074, ENST00000584754
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407162917GWAS811893_Himmature platelet measurement QTL GWAS811893 (human)8e-17immature platelet measurement1896099599609960Human
407153783GWAS802759_Hmean platelet volume QTL GWAS802759 (human)4e-09mean platelet volumemean platelet volume (CMO:0001348)1895662029566203Human
407181750GWAS830726_Himmature platelet count QTL GWAS830726 (human)3e-14immature platelet count1896099599609960Human
407063127GWAS712103_Hprotein measurement QTL GWAS712103 (human)2e-08protein measurement1895558369555837Human
407314643GWAS963619_Heducational attainment QTL GWAS963619 (human)2e-21educational attainment1895908989590899Human
407119564GWAS768540_Hcognitive function measurement QTL GWAS768540 (human)3e-09cognitive function measurement1895659169565917Human
407193213GWAS842189_Himmature platelet fraction QTL GWAS842189 (human)7e-16immature platelet fraction1896099599609960Human
407313949GWAS962925_Hsmoking initiation QTL GWAS962925 (human)2e-09smoking initiation1895609929560993Human
407113118GWAS762094_Hmathematical ability QTL GWAS762094 (human)4e-09mathematical ability1895908989590899Human

Markers in Region
WI-13171  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,546,928 - 9,547,052UniSTSGRCh37
Build 36189,536,928 - 9,537,052RGDNCBI36
Celera189,431,158 - 9,431,282RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,509,415 - 9,509,539UniSTS
GeneMap99-GB4 RH Map1864.87UniSTS
Whitehead-RH Map1852.4UniSTS
NCBI RH Map18108.7UniSTS
RH11744  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,546,968 - 9,547,185UniSTSGRCh37
Build 36189,536,968 - 9,537,185RGDNCBI36
Celera189,431,198 - 9,431,415RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,509,455 - 9,509,672UniSTS
GeneMap99-GB4 RH Map1865.2UniSTS
NCBI RH Map18125.8UniSTS
D18S926E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37189,546,994 - 9,547,156UniSTSGRCh37
Build 36189,536,994 - 9,537,156RGDNCBI36
Celera189,431,224 - 9,431,386RGD
Cytogenetic Map18p11.22UniSTS
HuRef189,509,481 - 9,509,643UniSTS
GeneMap99-GB4 RH Map1864.01UniSTS


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 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001042388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_052003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007066261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF100744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF111106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF200478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI621152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP005432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY486333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR006046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000285124   ⟹   ENSP00000285124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,547,713 - 9,614,505 (-)Ensembl
Ensembl Acc Id: ENST00000400555   ⟹   ENSP00000383401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,546,791 - 9,614,569 (-)Ensembl
Ensembl Acc Id: ENST00000400556   ⟹   ENSP00000383402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,546,794 - 9,614,559 (-)Ensembl
Ensembl Acc Id: ENST00000577393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,613,796 - 9,614,533 (-)Ensembl
Ensembl Acc Id: ENST00000577667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,556,981 - 9,559,576 (-)Ensembl
Ensembl Acc Id: ENST00000577779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,594,703 - 9,614,513 (-)Ensembl
Ensembl Acc Id: ENST00000578010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,549,834 - 9,550,482 (-)Ensembl
Ensembl Acc Id: ENST00000578178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,588,079 - 9,614,515 (-)Ensembl
Ensembl Acc Id: ENST00000578329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,549,238 - 9,550,300 (-)Ensembl
Ensembl Acc Id: ENST00000578557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,562,923 - 9,570,466 (-)Ensembl
Ensembl Acc Id: ENST00000578875   ⟹   ENSP00000462621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,584,776 - 9,614,533 (-)Ensembl
Ensembl Acc Id: ENST00000579415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,588,109 - 9,613,576 (-)Ensembl
Ensembl Acc Id: ENST00000579609
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,547,804 - 9,553,422 (-)Ensembl
Ensembl Acc Id: ENST00000579638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,588,085 - 9,599,712 (-)Ensembl
Ensembl Acc Id: ENST00000580182   ⟹   ENSP00000464394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,588,172 - 9,614,559 (-)Ensembl
Ensembl Acc Id: ENST00000580283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,594,825 - 9,614,274 (-)Ensembl
Ensembl Acc Id: ENST00000580583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,577,064 - 9,595,061 (-)Ensembl
Ensembl Acc Id: ENST00000580745   ⟹   ENSP00000463345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,588,138 - 9,615,240 (-)Ensembl
Ensembl Acc Id: ENST00000581250   ⟹   ENSP00000462399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,588,114 - 9,614,295 (-)Ensembl
Ensembl Acc Id: ENST00000581835   ⟹   ENSP00000462161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,588,729 - 9,614,287 (-)Ensembl
Ensembl Acc Id: ENST00000582240   ⟹   ENSP00000463909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,588,209 - 9,615,189 (-)Ensembl
Ensembl Acc Id: ENST00000582594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,546,910 - 9,551,939 (-)Ensembl
Ensembl Acc Id: ENST00000582933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,588,152 - 9,599,741 (-)Ensembl
Ensembl Acc Id: ENST00000583092   ⟹   ENSP00000462485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,588,827 - 9,614,533 (-)Ensembl
Ensembl Acc Id: ENST00000583438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,557,326 - 9,563,146 (-)Ensembl
Ensembl Acc Id: ENST00000583903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,588,085 - 9,613,589 (-)Ensembl
Ensembl Acc Id: ENST00000583988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,561,983 - 9,563,866 (-)Ensembl
Ensembl Acc Id: ENST00000584074   ⟹   ENSP00000463459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,588,091 - 9,614,895 (-)Ensembl
Ensembl Acc Id: ENST00000584754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl189,550,369 - 9,562,072 (-)Ensembl
RefSeq Acc Id: NM_001042388   ⟹   NP_001035847
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,614,559 (-)NCBI
GRCh37189,546,789 - 9,614,605 (-)NCBI
Build 36189,536,792 - 9,604,600 (-)NCBI Archive
Celera189,431,022 - 9,498,791 (-)RGD
HuRef189,509,276 - 9,576,873 (-)NCBI
CHM1_1189,546,520 - 9,614,326 (-)NCBI
T2T-CHM13v2.0189,710,190 - 9,777,940 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382562   ⟹   NP_001369491
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,614,559 (-)NCBI
T2T-CHM13v2.0189,710,190 - 9,777,940 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005134   ⟹   NP_005125
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,614,559 (-)NCBI
GRCh37189,546,789 - 9,614,605 (-)NCBI
Build 36189,536,792 - 9,604,600 (-)NCBI Archive
Celera189,431,022 - 9,498,791 (-)RGD
HuRef189,509,276 - 9,576,873 (-)NCBI
CHM1_1189,546,520 - 9,614,326 (-)NCBI
T2T-CHM13v2.0189,710,190 - 9,777,940 (-)NCBI
Sequence:
RefSeq Acc Id: NR_052003
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,614,559 (-)NCBI
GRCh37189,546,789 - 9,614,605 (-)NCBI
HuRef189,509,276 - 9,576,873 (-)NCBI
CHM1_1189,546,520 - 9,614,326 (-)NCBI
T2T-CHM13v2.0189,710,190 - 9,777,940 (-)NCBI
Sequence:
RefSeq Acc Id: NR_168403
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,614,559 (-)NCBI
T2T-CHM13v2.0189,710,190 - 9,777,940 (-)NCBI
Sequence:
RefSeq Acc Id: NR_168404
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,614,559 (-)NCBI
T2T-CHM13v2.0189,710,190 - 9,777,940 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525775   ⟹   XP_011524077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,617,199 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525776   ⟹   XP_011524078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,617,199 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011525779   ⟹   XP_011524081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,617,199 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026105   ⟹   XP_016881594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,617,199 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437973   ⟹   XP_047293929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,617,199 (-)NCBI
RefSeq Acc Id: XM_047437974   ⟹   XP_047293930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,614,559 (-)NCBI
RefSeq Acc Id: XM_047437975   ⟹   XP_047293931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,614,559 (-)NCBI
RefSeq Acc Id: XM_047437976   ⟹   XP_047293932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,617,199 (-)NCBI
RefSeq Acc Id: XM_047437977   ⟹   XP_047293933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,614,274 (-)NCBI
RefSeq Acc Id: XM_047437978   ⟹   XP_047293934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,614,559 (-)NCBI
RefSeq Acc Id: XM_047437979   ⟹   XP_047293935
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,546,794 - 9,614,559 (-)NCBI
RefSeq Acc Id: XM_047437980   ⟹   XP_047293936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,562,926 - 9,617,199 (-)NCBI
RefSeq Acc Id: XM_054319417   ⟹   XP_054175392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,710,190 - 9,781,391 (-)NCBI
RefSeq Acc Id: XM_054319418   ⟹   XP_054175393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,710,190 - 9,781,391 (-)NCBI
RefSeq Acc Id: XM_054319419   ⟹   XP_054175394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,710,190 - 9,781,391 (-)NCBI
RefSeq Acc Id: XM_054319420   ⟹   XP_054175395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,710,190 - 9,781,391 (-)NCBI
RefSeq Acc Id: XM_054319421   ⟹   XP_054175396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,710,190 - 9,777,940 (-)NCBI
RefSeq Acc Id: XM_054319422   ⟹   XP_054175397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,710,190 - 9,781,391 (-)NCBI
RefSeq Acc Id: XM_054319423   ⟹   XP_054175398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,710,190 - 9,777,940 (-)NCBI
RefSeq Acc Id: XM_054319424   ⟹   XP_054175399
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,710,190 - 9,781,391 (-)NCBI
RefSeq Acc Id: XM_054319425   ⟹   XP_054175400
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,710,190 - 9,758,532 (-)NCBI
RefSeq Acc Id: XM_054319426   ⟹   XP_054175401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,710,190 - 9,777,940 (-)NCBI
RefSeq Acc Id: XM_054319427   ⟹   XP_054175402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,710,190 - 9,777,940 (-)NCBI
RefSeq Acc Id: XR_007066261
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,561,987 - 9,617,199 (-)NCBI
RefSeq Acc Id: XR_008485037
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0189,725,380 - 9,781,391 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001035847 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369491 (Get FASTA)   NCBI Sequence Viewer  
  NP_005125 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524077 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524078 (Get FASTA)   NCBI Sequence Viewer  
  XP_011524081 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881594 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293929 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293930 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293931 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293932 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293933 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293934 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293935 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293936 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175392 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175393 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175394 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175395 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175396 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175397 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175398 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175399 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175400 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175401 (Get FASTA)   NCBI Sequence Viewer  
  XP_054175402 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB50211 (Get FASTA)   NCBI Sequence Viewer  
  AAD09818 (Get FASTA)   NCBI Sequence Viewer  
  AAD43008 (Get FASTA)   NCBI Sequence Viewer  
  AAH60829 (Get FASTA)   NCBI Sequence Viewer  
  AAL78298 (Get FASTA)   NCBI Sequence Viewer  
  AAS59409 (Get FASTA)   NCBI Sequence Viewer  
  BAF85227 (Get FASTA)   NCBI Sequence Viewer  
  BAG37566 (Get FASTA)   NCBI Sequence Viewer  
  BAG57259 (Get FASTA)   NCBI Sequence Viewer  
  BAG58445 (Get FASTA)   NCBI Sequence Viewer  
  EAX01598 (Get FASTA)   NCBI Sequence Viewer  
  EAX01599 (Get FASTA)   NCBI Sequence Viewer  
  EAX01600 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000285124.8
  ENSP00000383401
  ENSP00000383401.3
  ENSP00000383402
  ENSP00000383402.3
  ENSP00000462161.1
  ENSP00000462399.1
  ENSP00000462485.1
  ENSP00000462621.1
  ENSP00000463345.1
  ENSP00000463459.1
  ENSP00000463909.1
  ENSP00000464394.1
GenBank Protein Q8TF05 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005125   ⟸   NM_005134
- Peptide Label: isoform b
- UniProtKB: A8K923 (UniProtKB/TrEMBL),   B2RCG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001035847   ⟸   NM_001042388
- Peptide Label: isoform a
- UniProtKB: Q99774 (UniProtKB/Swiss-Prot),   Q9UNQ7 (UniProtKB/Swiss-Prot),   Q8TF05 (UniProtKB/Swiss-Prot),   A8K923 (UniProtKB/TrEMBL),   B2RCG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524081   ⟸   XM_011525779
- Peptide Label: isoform X6
- UniProtKB: A8K923 (UniProtKB/TrEMBL),   B2RCG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524077   ⟸   XM_011525775
- Peptide Label: isoform X1
- UniProtKB: A8K923 (UniProtKB/TrEMBL),   B2RCG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011524078   ⟸   XM_011525776
- Peptide Label: isoform X2
- UniProtKB: A8K923 (UniProtKB/TrEMBL),   B2RCG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881594   ⟸   XM_017026105
- Peptide Label: isoform X3
- UniProtKB: A8K923 (UniProtKB/TrEMBL),   B2RCG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001369491   ⟸   NM_001382562
- Peptide Label: isoform c
- UniProtKB: A8K923 (UniProtKB/TrEMBL),   B2RCG9 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000463345   ⟸   ENST00000580745
Ensembl Acc Id: ENSP00000464394   ⟸   ENST00000580182
Ensembl Acc Id: ENSP00000462399   ⟸   ENST00000581250
Ensembl Acc Id: ENSP00000462161   ⟸   ENST00000581835
Ensembl Acc Id: ENSP00000463909   ⟸   ENST00000582240
Ensembl Acc Id: ENSP00000462485   ⟸   ENST00000583092
Ensembl Acc Id: ENSP00000463459   ⟸   ENST00000584074
Ensembl Acc Id: ENSP00000383401   ⟸   ENST00000400555
Ensembl Acc Id: ENSP00000383402   ⟸   ENST00000400556
Ensembl Acc Id: ENSP00000285124   ⟸   ENST00000285124
Ensembl Acc Id: ENSP00000462621   ⟸   ENST00000578875
RefSeq Acc Id: XP_047293932   ⟸   XM_047437976
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047293929   ⟸   XM_047437973
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047293935   ⟸   XM_047437979
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047293931   ⟸   XM_047437975
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047293934   ⟸   XM_047437978
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047293930   ⟸   XM_047437974
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047293933   ⟸   XM_047437977
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047293936   ⟸   XM_047437980
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054175399   ⟸   XM_054319424
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054175395   ⟸   XM_054319420
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054175393   ⟸   XM_054319418
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054175397   ⟸   XM_054319422
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054175394   ⟸   XM_054319419
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054175392   ⟸   XM_054319417
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054175402   ⟸   XM_054319427
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054175398   ⟸   XM_054319423
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054175401   ⟸   XM_054319426
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054175396   ⟸   XM_054319421
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054175400   ⟸   XM_054319425
- Peptide Label: isoform X9
Protein Domains
Putative WW-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TF05-F1-model_v2 AlphaFold Q8TF05 1-950 view protein structure

Promoters
RGD ID:6811446
Promoter ID:HG_ACW:37340
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:PPP4R1.JAPR07,   PPP4R1.LAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36189,603,791 - 9,604,291 (-)MPROMDB
RGD ID:6794842
Promoter ID:HG_KWN:27601
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000400555,   ENST00000400556
Position:
Human AssemblyChrPosition (strand)Source
Build 36189,604,116 - 9,605,192 (-)MPROMDB
RGD ID:7236921
Promoter ID:EPDNEW_H24206
Type:initiation region
Name:PPP4R1_1
Description:protein phosphatase 4 regulatory subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24207  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,614,559 - 9,614,619EPDNEW
RGD ID:7236929
Promoter ID:EPDNEW_H24207
Type:multiple initiation site
Name:PPP4R1_2
Description:protein phosphatase 4 regulatory subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24206  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38189,617,199 - 9,617,259EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9320 AgrOrtholog
COSMIC PPP4R1 COSMIC
Ensembl Genes ENSG00000154845 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000285124.12 UniProtKB/TrEMBL
  ENST00000400555 ENTREZGENE
  ENST00000400555.7 UniProtKB/Swiss-Prot
  ENST00000400556 ENTREZGENE
  ENST00000400556.8 UniProtKB/Swiss-Prot
  ENST00000578875.5 UniProtKB/TrEMBL
  ENST00000580182.5 UniProtKB/TrEMBL
  ENST00000580745.5 UniProtKB/TrEMBL
  ENST00000581250.5 UniProtKB/TrEMBL
  ENST00000581835.1 UniProtKB/TrEMBL
  ENST00000582240.5 UniProtKB/TrEMBL
  ENST00000583092.1 UniProtKB/TrEMBL
  ENST00000584074.5 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000154845 GTEx
HGNC ID HGNC:9320 ENTREZGENE
Human Proteome Map PPP4R1 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEAT_type_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PP2A_Regulatory_Subunit_A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WRNPLPNID UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9989 UniProtKB/Swiss-Prot
NCBI Gene 9989 ENTREZGENE
OMIM 604908 OMIM
PANTHER PTHR10648:SF8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN PHOSPHATASE PP2A 65 KDA REGULATORY SUBUNIT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WRNPLPNID UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33684 PharmGKB
PROSITE HEAT_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K923 ENTREZGENE, UniProtKB/TrEMBL
  B2RCG9 ENTREZGENE, UniProtKB/TrEMBL
  F8WAJ9_HUMAN UniProtKB/TrEMBL
  J3KRU1_HUMAN UniProtKB/TrEMBL
  J3KSB0_HUMAN UniProtKB/TrEMBL
  J3KSH2_HUMAN UniProtKB/TrEMBL
  J3KSS1_HUMAN UniProtKB/TrEMBL
  J3QL26_HUMAN UniProtKB/TrEMBL
  J3QLA6_HUMAN UniProtKB/TrEMBL
  J3QQV0_HUMAN UniProtKB/TrEMBL
  J3QRV2_HUMAN UniProtKB/TrEMBL
  PP4R1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q99774 ENTREZGENE
  Q9UNQ7 ENTREZGENE
UniProt Secondary Q99774 UniProtKB/Swiss-Prot
  Q9UNQ7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PPP4R1  protein phosphatase 4 regulatory subunit 1  PPP4R1  protein phosphatase 4, regulatory subunit 1  Symbol and/or name change 5135510 APPROVED