PLPP4 (phospholipid phosphatase 4) - Rat Genome Database

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Gene: PLPP4 (phospholipid phosphatase 4) Homo sapiens
Analyze
Symbol: PLPP4
Name: phospholipid phosphatase 4
RGD ID: 1351368
HGNC Page HGNC:23531
Description: Enables diacylglycerol diphosphate phosphatase activity; identical protein binding activity; and phosphatidate phosphatase activity. Involved in phospholipid dephosphorylation and regulation of calcium ion import. Predicted to be located in plasma membrane. Predicted to be active in membrane. Biomarker of breast cancer.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: diacylglycerol pyrophosphate like 2; diacylglycerol pyrophosphate phosphatase-like 2; DPPL2; MGC120299; MGC120300; phosphatidate phosphatase PPAPDC1A; phosphatidic acid phosphatase type 2 domain containing 1A; phosphatidic acid phosphatase type 2 domain-containing protein 1A; PPAPDC1; PPAPDC1A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810120,456,954 - 120,592,065 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10120,457,227 - 120,592,065 (+)EnsemblGRCh38hg38GRCh38
GRCh3710122,216,466 - 122,351,577 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610122,206,456 - 122,339,357 (+)NCBINCBI36Build 36hg18NCBI36
Celera10115,947,750 - 116,080,667 (+)NCBICelera
Cytogenetic Map10q26.12NCBI
HuRef10115,845,693 - 115,978,671 (+)NCBIHuRef
CHM1_110122,501,266 - 122,634,670 (+)NCBICHM1_1
T2T-CHM13v2.010121,355,031 - 121,487,934 (+)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
membrane  (IBA,IEA)
plasma membrane  (TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Molecular profiling of laser-microdissected matched tumor and normal breast tissue identifies karyopherin alpha2 as a potential novel prognostic marker in breast cancer. Dahl E, etal., Clin Cancer Res. 2006 Jul 1;12(13):3950-60.
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:12477932   PMID:17590538   PMID:20379614   PMID:21873635   PMID:23535033   PMID:24623722   PMID:25416956   PMID:28851360   PMID:30361512   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
PLPP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810120,456,954 - 120,592,065 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10120,457,227 - 120,592,065 (+)EnsemblGRCh38hg38GRCh38
GRCh3710122,216,466 - 122,351,577 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610122,206,456 - 122,339,357 (+)NCBINCBI36Build 36hg18NCBI36
Celera10115,947,750 - 116,080,667 (+)NCBICelera
Cytogenetic Map10q26.12NCBI
HuRef10115,845,693 - 115,978,671 (+)NCBIHuRef
CHM1_110122,501,266 - 122,634,670 (+)NCBICHM1_1
T2T-CHM13v2.010121,355,031 - 121,487,934 (+)NCBIT2T-CHM13v2.0
Plpp4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397128,858,114 - 128,993,138 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl7128,858,755 - 128,993,136 (+)EnsemblGRCm39 Ensembl
GRCm387129,256,390 - 129,391,412 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7129,257,031 - 129,391,412 (+)EnsemblGRCm38mm10GRCm38
MGSCv377136,400,608 - 136,534,821 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367119,150,709 - 119,289,270 (+)NCBIMGSCv36mm8
MGSCv367129,048,185 - 129,182,560 (+)NCBIMGSCv36mm8
Celera7129,080,248 - 129,216,184 (+)NCBICelera
Cytogenetic Map7F3NCBI
cM Map771.63NCBI
Plpp4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81193,260,181 - 193,389,659 (+)NCBIGRCr8
mRatBN7.21183,829,794 - 183,959,319 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1183,830,409 - 183,959,319 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1192,180,801 - 192,309,703 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01199,366,914 - 199,498,896 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01192,038,675 - 192,170,660 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01202,432,366 - 202,560,628 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1202,432,366 - 202,560,628 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01209,449,940 - 209,577,459 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41188,518,590 - 188,643,804 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11188,668,455 - 188,793,678 (+)NCBI
Celera1181,465,367 - 181,593,417 (+)NCBICelera
Cytogenetic Map1q37NCBI
Plpp4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555511,328,652 - 1,459,077 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555511,328,652 - 1,458,714 (+)NCBIChiLan1.0ChiLan1.0
PLPP4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28132,320,187 - 132,663,995 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110132,325,542 - 132,669,350 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v010117,031,688 - 117,164,083 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110120,449,738 - 120,581,706 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10120,449,732 - 120,581,697 (+)Ensemblpanpan1.1panPan2
PLPP4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12830,502,287 - 30,585,324 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2830,491,381 - 30,585,322 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2830,599,261 - 30,724,990 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02830,995,441 - 31,118,192 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2830,994,524 - 31,118,190 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12830,538,293 - 30,656,609 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02830,559,144 - 30,677,290 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02830,758,543 - 30,876,753 (+)NCBIUU_Cfam_GSD_1.0
Plpp4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721315,749,283 - 15,870,856 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364869,697,592 - 9,812,011 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364869,697,598 - 9,811,994 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLPP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14130,276,639 - 130,424,627 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114130,277,217 - 130,424,632 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214141,831,982 - 141,983,156 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PLPP4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.19113,240,324 - 113,376,421 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl9113,241,117 - 113,376,428 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604874,526,676 - 74,665,136 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Plpp4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473726,178,572 - 26,303,999 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473726,178,727 - 26,304,053 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLPP4
13 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3 copy number gain See cases [RCV000050701] Chr10:119273012..123117390 [GRCh38]
Chr10:121032524..124876906 [GRCh37]
Chr10:121022514..124866896 [NCBI36]
Chr10:10q26.11-26.13
pathogenic
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 copy number gain See cases [RCV000051218] Chr10:111313099..133620674 [GRCh38]
Chr10:113072857..135434178 [GRCh37]
Chr10:113062847..135284168 [NCBI36]
Chr10:10q25.2-26.3
pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 copy number loss See cases [RCV000051103] Chr10:120454430..133620674 [GRCh38]
Chr10:122213942..135434178 [GRCh37]
Chr10:122203932..135284168 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 copy number gain See cases [RCV000053589] Chr10:117866565..133554210 [GRCh38]
Chr10:119626076..135367714 [GRCh37]
Chr10:119616066..135217704 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
NM_001030059.1(PPAPDC1A):c.445+7313G>T single nucleotide variant Lung cancer [RCV000108749] Chr10:120528408 [GRCh38]
Chr10:122287920 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_001030059.1(PPAPDC1A):c.446-19391C>T single nucleotide variant Lung cancer [RCV000108750] Chr10:120555740 [GRCh38]
Chr10:122315252 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_001030059.1(PPAPDC1A):c.446-14260T>A single nucleotide variant Lung cancer [RCV000108751] Chr10:120560871 [GRCh38]
Chr10:122320383 [GRCh37]
Chr10:10q26.12
uncertain significance
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3 copy number gain See cases [RCV000137511] Chr10:112701186..120970617 [GRCh38]
Chr10:114460945..122730130 [GRCh37]
Chr10:114450935..122720120 [NCBI36]
Chr10:10q25.2-26.12
likely pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 copy number gain See cases [RCV000142005] Chr10:119707856..133613639 [GRCh38]
Chr10:121467368..135427143 [GRCh37]
Chr10:121457358..135277133 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1 copy number loss See cases [RCV000240153] Chr10:122239239..128203032 [GRCh37]
Chr10:10q26.12-26.2
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)x3 copy number gain See cases [RCV000449169] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3
likely pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 copy number loss See cases [RCV000446095] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_001030059.3(PLPP4):c.331G>A (p.Asp111Asn) single nucleotide variant Inborn genetic diseases [RCV003247219] Chr10:120520981 [GRCh38]
Chr10:122280493 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_001030059.3(PLPP4):c.771C>T (p.Ser257=) single nucleotide variant Inborn genetic diseases [RCV003273226] Chr10:120589457 [GRCh38]
Chr10:122348969 [GRCh37]
Chr10:10q26.12
likely benign
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 copy number gain not provided [RCV000683288] Chr10:121269222..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3
pathogenic
GRCh37/hg19 10q26.11-26.12(chr10:121659411-122322239)x1 copy number loss not provided [RCV000683244] Chr10:121659411..122322239 [GRCh37]
Chr10:10q26.11-26.12
uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 copy number gain not provided [RCV000847820] Chr10:114544537..135427143 [GRCh37]
Chr10:10q25.2-26.3
pathogenic
GRCh37/hg19 10q26.12(chr10:122224799-122228534)x0 copy number loss not provided [RCV000737302] Chr10:122224799..122228534 [GRCh37]
Chr10:10q26.12
benign
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806) copy number loss Distal 10q deletion syndrome [RCV000767564] Chr10:117024753..124942806 [GRCh37]
Chr10:10q25.3-26.13
pathogenic
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 copy number gain not provided [RCV001006356] Chr10:119996339..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
Single allele deletion not provided [RCV001391678] Chr10:119302758..124813305 [GRCh37]
Chr10:10q26.11-26.13
likely pathogenic
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 copy number gain not provided [RCV001537903] Chr10:118247181..135435319 [GRCh37]
Chr10:10q25.3-26.3
pathogenic
GRCh37/hg19 10q25.3-26.12(chr10:118891670-122349064)x1 copy number loss Astigmatism [RCV001801230] Chr10:118891670..122349064 [GRCh37]
Chr10:10q25.3-26.12
uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) copy number gain not specified [RCV002052891] Chr10:108455687..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066) copy number loss not specified [RCV002052892] Chr10:117019650..125217066 [GRCh37]
Chr10:10q25.3-26.13
pathogenic
GRCh37/hg19 10q26.11-26.13(chr10:120782191-123155522) copy number gain not specified [RCV002052893] Chr10:120782191..123155522 [GRCh37]
Chr10:10q26.11-26.13
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143) copy number loss not specified [RCV002052895] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972) copy number gain not specified [RCV002052894] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3
likely pathogenic
GRCh37/hg19 10q26.12(chr10:121819687-122603004)x3 copy number gain not provided [RCV002474662] Chr10:121819687..122603004 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_001030059.3(PLPP4):c.496C>T (p.His166Tyr) single nucleotide variant Inborn genetic diseases [RCV002822947] Chr10:120575181 [GRCh38]
Chr10:122334693 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_001030059.3(PLPP4):c.508G>C (p.Glu170Gln) single nucleotide variant Inborn genetic diseases [RCV002891808] Chr10:120575193 [GRCh38]
Chr10:122334705 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_001030059.3(PLPP4):c.230A>C (p.Lys77Thr) single nucleotide variant Inborn genetic diseases [RCV002714037] Chr10:120513975 [GRCh38]
Chr10:122273487 [GRCh37]
Chr10:10q26.12
uncertain significance
NM_001030059.3(PLPP4):c.501C>G (p.Cys167Trp) single nucleotide variant Inborn genetic diseases [RCV003008567] Chr10:120575186 [GRCh38]
Chr10:122334698 [GRCh37]
Chr10:10q26.12
uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3
pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 copy number gain not provided [RCV003484817] Chr10:111447991..133435388 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 copy number gain Distal trisomy 10q [RCV003458955] Chr10:111378692..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3 copy number gain not specified [RCV003986891] Chr10:107129993..123817654 [GRCh37]
Chr10:10q25.1-26.13
likely pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1452
Count of miRNA genes:595
Interacting mature miRNAs:661
Transcripts:ENST00000369073, ENST00000398248, ENST00000398250, ENST00000427079, ENST00000439221, ENST00000496437, ENST00000541332
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D10S1757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,324,738 - 122,324,952UniSTSGRCh37
Build 3610122,314,728 - 122,314,942RGDNCBI36
Celera10116,056,024 - 116,056,240RGD
Cytogenetic Map10q26.12UniSTS
HuRef10115,954,069 - 115,954,279UniSTS
Marshfield Genetic Map10141.7RGD
Marshfield Genetic Map10141.7UniSTS
Genethon Genetic Map10150.7UniSTS
D10S209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,330,586 - 122,330,789UniSTSGRCh37
GRCh3710122,330,555 - 122,330,746UniSTSGRCh37
Build 3610122,320,576 - 122,320,779RGDNCBI36
Celera10116,061,843 - 116,062,036UniSTS
Celera10116,061,874 - 116,062,079RGD
Cytogenetic Map10q26.12UniSTS
HuRef10115,959,882 - 115,960,077UniSTS
HuRef10115,959,913 - 115,960,120UniSTS
Marshfield Genetic Map10142.78UniSTS
Marshfield Genetic Map10142.78RGD
Genethon Genetic Map10150.7UniSTS
TNG Radiation Hybrid Map1060091.0UniSTS
Stanford-G3 RH Map105791.0UniSTS
GeneMap99-GB4 RH Map10536.55UniSTS
Whitehead-YAC Contig Map10 UniSTS
NCBI RH Map101341.1UniSTS
GeneMap99-G3 RH Map106027.0UniSTS
U64670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,225,593 - 122,225,759UniSTSGRCh37
Build 3610122,215,583 - 122,215,749RGDNCBI36
Celera10115,956,875 - 115,957,041RGD
Cytogenetic Map10q26.12UniSTS
HuRef10115,854,773 - 115,854,939UniSTS
SHGC-35172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,349,183 - 122,349,332UniSTSGRCh37
Build 3610122,339,173 - 122,339,322RGDNCBI36
Celera10116,080,483 - 116,080,632RGD
Cytogenetic Map10q26.12UniSTS
HuRef10115,978,487 - 115,978,636UniSTS
Stanford-G3 RH Map105836.0UniSTS
GeneMap99-GB4 RH Map10536.55UniSTS
Whitehead-RH Map10639.8UniSTS
NCBI RH Map101340.6UniSTS
GeneMap99-G3 RH Map106072.0UniSTS
RH44621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,349,143 - 122,349,290UniSTSGRCh37
Build 3610122,339,133 - 122,339,280RGDNCBI36
Celera10116,080,443 - 116,080,590RGD
Cytogenetic Map10q26.12UniSTS
HuRef10115,978,447 - 115,978,594UniSTS
GeneMap99-GB4 RH Map10536.55UniSTS
NCBI RH Map101337.1UniSTS
G60313  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,324,671 - 122,324,992UniSTSGRCh37
Build 3610122,314,661 - 122,314,982RGDNCBI36
Celera10116,055,957 - 116,056,280RGD
Cytogenetic Map10q26.12UniSTS
HuRef10115,954,002 - 115,954,319UniSTS
TNG Radiation Hybrid Map2026769.0UniSTS
TNG Radiation Hybrid Map1060060.0UniSTS
G62583  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,262,868 - 122,263,195UniSTSGRCh37
Build 3610122,252,858 - 122,253,185RGDNCBI36
Celera10115,994,150 - 115,994,477RGD
Cytogenetic Map10q26.12UniSTS
HuRef10115,891,881 - 115,892,208UniSTS
TNG Radiation Hybrid Map1060043.0UniSTS
SHGC-142790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,263,035 - 122,263,355UniSTSGRCh37
Build 3610122,253,025 - 122,253,345RGDNCBI36
Celera10115,994,317 - 115,994,637RGD
Cytogenetic Map10q26.12UniSTS
HuRef10115,892,048 - 115,892,368UniSTS
TNG Radiation Hybrid Map1060043.0UniSTS
SHGC-143619  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,233,327 - 122,233,604UniSTSGRCh37
Build 3610122,223,317 - 122,223,594RGDNCBI36
Celera10115,964,607 - 115,964,884RGD
Cytogenetic Map10q26.12UniSTS
HuRef10115,862,339 - 115,862,616UniSTS
TNG Radiation Hybrid Map1060020.0UniSTS
SHGC-147463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,250,459 - 122,250,799UniSTSGRCh37
Build 3610122,240,449 - 122,240,789RGDNCBI36
Celera10115,981,739 - 115,982,079RGD
Cytogenetic Map10q26.12UniSTS
HuRef10115,879,471 - 115,879,811UniSTS
U64671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,275,968 - 122,276,089UniSTSGRCh37
Build 3610122,265,958 - 122,266,079RGDNCBI36
Celera10116,007,248 - 116,007,369RGD
Cytogenetic Map10q26.12UniSTS
HuRef10115,905,080 - 115,905,204UniSTS
PPAPDC1__5754  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710122,348,852 - 122,349,532UniSTSGRCh37
Build 3610122,338,842 - 122,339,522RGDNCBI36
Celera10116,080,152 - 116,080,832RGD
HuRef10115,978,156 - 115,978,836UniSTS
D10S209  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q26.12UniSTS
TNG Radiation Hybrid Map1060091.0UniSTS
Stanford-G3 RH Map105791.0UniSTS
NCBI RH Map101341.1UniSTS
GeneMap99-G3 RH Map106027.0UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1
Medium 7 14 7 10 8 54 11 878 35 285 40 2 1 5
Low 1378 143 571 234 154 218 1666 634 2553 289 713 427 19 321 996
Below cutoff 882 2045 935 316 864 187 2032 997 279 74 354 958 131 747 1267 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001030059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006717686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047424710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054364991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC023282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC122535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BD418666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI459587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI550027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR739184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB473853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB495310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR000933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY340365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000369073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,503,579 - 120,589,851 (+)Ensembl
RefSeq Acc Id: ENST00000398250   ⟹   ENSP00000381302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,457,227 - 120,592,065 (+)Ensembl
RefSeq Acc Id: ENST00000496437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10120,575,188 - 120,587,496 (+)Ensembl
RefSeq Acc Id: NM_001030059   ⟹   NP_001025230
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,457,227 - 120,592,065 (+)NCBI
GRCh3710122,216,466 - 122,349,367 (+)RGD
Build 3610122,206,456 - 122,339,357 (+)NCBI Archive
Celera10115,947,750 - 116,080,667 (+)RGD
HuRef10115,845,693 - 115,978,671 (+)ENTREZGENE
CHM1_110122,501,266 - 122,634,679 (+)NCBI
T2T-CHM13v2.010121,355,304 - 121,487,934 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001318166   ⟹   NP_001305095
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,457,227 - 120,592,065 (+)NCBI
CHM1_110122,501,266 - 122,634,679 (+)NCBI
T2T-CHM13v2.010121,355,304 - 121,487,934 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001318167   ⟹   NP_001305096
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,457,227 - 120,592,065 (+)NCBI
CHM1_110122,501,266 - 122,634,679 (+)NCBI
T2T-CHM13v2.010121,355,304 - 121,487,934 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001318168   ⟹   NP_001305097
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,457,227 - 120,592,065 (+)NCBI
CHM1_110122,501,266 - 122,634,679 (+)NCBI
T2T-CHM13v2.010121,355,304 - 121,487,934 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001318169   ⟹   NP_001305098
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,457,227 - 120,592,065 (+)NCBI
CHM1_110122,501,266 - 122,634,679 (+)NCBI
T2T-CHM13v2.010121,355,304 - 121,487,934 (+)NCBI
Sequence:
RefSeq Acc Id: NR_134516
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,456,954 - 120,589,864 (+)NCBI
CHM1_110122,501,266 - 122,634,679 (+)NCBI
T2T-CHM13v2.010121,355,031 - 121,485,733 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005269592   ⟹   XP_005269649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,457,227 - 120,592,065 (+)NCBI
GRCh3710122,216,466 - 122,349,367 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006717686   ⟹   XP_006717749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,457,227 - 120,587,443 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539444   ⟹   XP_011537746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,457,227 - 120,592,065 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015821   ⟹   XP_016871310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,503,846 - 120,592,065 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015822   ⟹   XP_016871311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,503,839 - 120,592,065 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017015823   ⟹   XP_016871312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,457,227 - 120,580,984 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447862   ⟹   XP_024303630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,513,982 - 120,592,065 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047424709   ⟹   XP_047280665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,489,134 - 120,592,065 (+)NCBI
RefSeq Acc Id: XM_047424710   ⟹   XP_047280666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,503,846 - 120,592,065 (+)NCBI
RefSeq Acc Id: XM_054364983   ⟹   XP_054220958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010121,355,304 - 121,487,934 (+)NCBI
RefSeq Acc Id: XM_054364984   ⟹   XP_054220959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010121,385,058 - 121,487,934 (+)NCBI
RefSeq Acc Id: XM_054364985   ⟹   XP_054220960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010121,355,304 - 121,485,163 (+)NCBI
RefSeq Acc Id: XM_054364986   ⟹   XP_054220961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010121,355,304 - 121,487,934 (+)NCBI
RefSeq Acc Id: XM_054364987   ⟹   XP_054220962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010121,399,768 - 121,487,934 (+)NCBI
RefSeq Acc Id: XM_054364988   ⟹   XP_054220963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010121,399,768 - 121,487,934 (+)NCBI
RefSeq Acc Id: XM_054364989   ⟹   XP_054220964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010121,399,761 - 121,487,934 (+)NCBI
RefSeq Acc Id: XM_054364990   ⟹   XP_054220965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010121,409,894 - 121,487,934 (+)NCBI
RefSeq Acc Id: XM_054364991   ⟹   XP_054220966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010121,355,304 - 121,476,847 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001025230 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305095 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305096 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305097 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305098 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269649 (Get FASTA)   NCBI Sequence Viewer  
  XP_006717749 (Get FASTA)   NCBI Sequence Viewer  
  XP_011537746 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871310 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871311 (Get FASTA)   NCBI Sequence Viewer  
  XP_016871312 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303630 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280665 (Get FASTA)   NCBI Sequence Viewer  
  XP_047280666 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220958 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220959 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220960 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220961 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220962 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220963 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220964 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220965 (Get FASTA)   NCBI Sequence Viewer  
  XP_054220966 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI01268 (Get FASTA)   NCBI Sequence Viewer  
  AAI01269 (Get FASTA)   NCBI Sequence Viewer  
  AAI01270 (Get FASTA)   NCBI Sequence Viewer  
  AAI22536 (Get FASTA)   NCBI Sequence Viewer  
  AAI32788 (Get FASTA)   NCBI Sequence Viewer  
  BAH12299 (Get FASTA)   NCBI Sequence Viewer  
  EAW49368 (Get FASTA)   NCBI Sequence Viewer  
  EAW49369 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000381302
  ENSP00000381302.1
GenBank Protein Q5VZY2 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001025230   ⟸   NM_001030059
- Peptide Label: isoform a
- UniProtKB: Q495B4 (UniProtKB/Swiss-Prot),   Q0IIP2 (UniProtKB/Swiss-Prot),   Q08EQ2 (UniProtKB/Swiss-Prot),   A2RU82 (UniProtKB/Swiss-Prot),   Q5VZY1 (UniProtKB/Swiss-Prot),   Q5VZY2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005269649   ⟸   XM_005269592
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006717749   ⟸   XM_006717686
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011537746   ⟸   XM_011539444
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001305095   ⟸   NM_001318166
- Peptide Label: isoform b
- UniProtKB: Q5VZY2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001305096   ⟸   NM_001318167
- Peptide Label: isoform c
- UniProtKB: Q5VZY2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001305097   ⟸   NM_001318168
- Peptide Label: isoform d
- UniProtKB: Q5VZY2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001305098   ⟸   NM_001318169
- Peptide Label: isoform e
- UniProtKB: Q5VZY2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016871312   ⟸   XM_017015823
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016871311   ⟸   XM_017015822
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016871310   ⟸   XM_017015821
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_024303630   ⟸   XM_024447862
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000381302   ⟸   ENST00000398250
RefSeq Acc Id: XP_047280665   ⟸   XM_047424709
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047280666   ⟸   XM_047424710
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054220958   ⟸   XM_054364983
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054220961   ⟸   XM_054364986
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054220960   ⟸   XM_054364985
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054220966   ⟸   XM_054364991
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054220959   ⟸   XM_054364984
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054220964   ⟸   XM_054364989
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054220963   ⟸   XM_054364988
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054220962   ⟸   XM_054364987
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054220965   ⟸   XM_054364990
- Peptide Label: isoform X5

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5VZY2-F1-model_v2 AlphaFold Q5VZY2 1-271 view protein structure

Promoters
RGD ID:7218831
Promoter ID:EPDNEW_H15161
Type:single initiation site
Name:PLPP4_4
Description:phospholipid phosphatase 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15160  EPDNEW_H15162  EPDNEW_H15163  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,453,960 - 120,454,020EPDNEW
RGD ID:7218833
Promoter ID:EPDNEW_H15162
Type:initiation region
Name:PLPP4_2
Description:phospholipid phosphatase 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15160  EPDNEW_H15161  EPDNEW_H15163  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,456,927 - 120,456,987EPDNEW
RGD ID:7218835
Promoter ID:EPDNEW_H15163
Type:initiation region
Name:PLPP4_1
Description:phospholipid phosphatase 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15160  EPDNEW_H15161  EPDNEW_H15162  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810120,457,227 - 120,457,287EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23531 AgrOrtholog
COSMIC PLPP4 COSMIC
Ensembl Genes ENSG00000203805 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000398250 ENTREZGENE
  ENST00000398250.6 UniProtKB/Swiss-Prot
Gene3D-CATH Phosphatidic acid phosphatase type 2/haloperoxidase UniProtKB/Swiss-Prot
GTEx ENSG00000203805 GTEx
HGNC ID HGNC:23531 ENTREZGENE
Human Proteome Map PLPP4 Human Proteome Map
InterPro P_Acid_Pase_2/haloperoxi_sf UniProtKB/Swiss-Prot
  P_Acid_Pase_2/haloperoxidase UniProtKB/Swiss-Prot
  PLPP UniProtKB/Swiss-Prot
KEGG Report hsa:196051 UniProtKB/Swiss-Prot
NCBI Gene 196051 ENTREZGENE
PANTHER PTHR10165 UniProtKB/Swiss-Prot
  PTHR10165:SF90 UniProtKB/Swiss-Prot
Pfam PAP2 UniProtKB/Swiss-Prot
PharmGKB PA134907381 PharmGKB
SMART acidPPc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48317 UniProtKB/Swiss-Prot
UniProt A2RU82 ENTREZGENE
  PLPP4_HUMAN UniProtKB/Swiss-Prot
  Q08EQ2 ENTREZGENE
  Q0IIP2 ENTREZGENE
  Q495B4 ENTREZGENE
  Q5VZY1 ENTREZGENE
  Q5VZY2 ENTREZGENE
UniProt Secondary A2RU82 UniProtKB/Swiss-Prot
  Q08EQ2 UniProtKB/Swiss-Prot
  Q0IIP2 UniProtKB/Swiss-Prot
  Q495B4 UniProtKB/Swiss-Prot
  Q5VZY1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-10-20 PLPP4  phospholipid phosphatase 4  PPAPDC1A  phosphatidic acid phosphatase type 2 domain containing 1A  Symbol and/or name change 5135510 APPROVED