PLD1 (phospholipase D1) - Rat Genome Database

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Gene: PLD1 (phospholipase D1) Homo sapiens
Analyze
Symbol: PLD1
Name: phospholipase D1
RGD ID: 70829
HGNC Page HGNC
Description: Predicted to enable phospholipase D activity. Involved in positive regulation of translation; regulation of microvillus assembly; and regulation of synaptic vesicle cycle. Located in Golgi apparatus; apical plasma membrane; and cytoplasmic vesicle. Is active in cholinergic synapse. Implicated in developmental cardiac valvular defect. Biomarker of pancreatic ductal adenocarcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: choline phosphatase 1; CVDD; hPLD1; phosphatidylcholine-hydrolyzing phospholipase D1; phospholipase D1, phosphatidylcholine-specific; PLD 1
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
GRCh383171,600,404 - 171,810,483 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3171,600,404 - 171,810,950 (-)EnsemblGRCh38hg38GRCh38
GRCh373171,318,194 - 171,528,273 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363172,801,339 - 172,938,566 (-)NCBINCBI36hg18NCBI36
Build 343172,801,346 - 172,938,574NCBI
Celera3169,718,435 - 169,928,143 (-)NCBI
Cytogenetic Map3q26.31NCBI
HuRef3168,688,221 - 168,898,341 (-)NCBIHuRef
CHM1_13171,281,084 - 171,491,135 (-)NCBICHM1_1
T2T-CHM13v2.03174,384,521 - 174,594,617 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (EXP)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (EXP,ISO)
1,2-dimethylhydrazine  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,3-bisphospho-D-glyceric acid  (EXP)
2,3-bisphosphoglyceric acid  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-naphthylamine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
8-Br-cAMP  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butan-1-ol  (ISO)
cadmium atom  (ISO)
cannabidiol  (ISO)
cannabigerol  (ISO)
carbon nanotube  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP,ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
formaldehyde  (EXP)
furan  (ISO)
ganglioside GM1  (ISO)
genistein  (ISO)
glyphosate  (EXP)
Goe 6976  (EXP,ISO)
hexadecanoic acid  (EXP)
hydrogen cyanide  (ISO)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP)
indometacin  (ISO)
irinotecan  (ISO)
isoprenaline  (ISO)
Licochalcone B  (EXP)
lithium chloride  (EXP)
lithocholic acid  (ISO)
melanins  (EXP)
mercury atom  (ISO)
mercury(0)  (ISO)
metformin  (EXP)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
methylmercury(1+)  (ISO)
mifepristone  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (EXP)
N-acetyl-L-cysteine  (EXP)
N-formyl-L-methionyl-L-leucyl-L-phenylalanine  (EXP,ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nicotine  (EXP)
nitrofen  (ISO)
oleic acid  (EXP)
oxaliplatin  (ISO)
oxycodone  (ISO)
paracetamol  (EXP)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenylarsine oxide  (EXP)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
phosphatidic acid  (EXP)
pioglitazone  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium cyanide  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
prostaglandin E2  (EXP)
quercetin  (EXP)
reactive oxygen species  (EXP,ISO)
resveratrol  (EXP)
rotenone  (ISO)
rottlerin  (EXP)
SB 203580  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
sodium dodecyl sulfate  (EXP)
Soman  (ISO)
sulforaphane  (EXP)
testosterone  (EXP,ISO)
tetracycline  (ISO)
titanium dioxide  (ISO)
topiramate  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (EXP,ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:8530346   PMID:9013646   PMID:9188501   PMID:9207251   PMID:9395408   PMID:9565577   PMID:9582313   PMID:9688545   PMID:9761774   PMID:9858822   PMID:10090765   PMID:10441128  
PMID:10747870   PMID:10764771   PMID:10926929   PMID:11032811   PMID:11259428   PMID:11311142   PMID:11373276   PMID:11389680   PMID:11459228   PMID:11752468   PMID:11821392   PMID:11830497  
PMID:11950840   PMID:11950936   PMID:12011045   PMID:12014986   PMID:12149127   PMID:12376551   PMID:12379803   PMID:12388543   PMID:12429840   PMID:12477932   PMID:12593858   PMID:12615079  
PMID:12697812   PMID:12782287   PMID:12813467   PMID:12839565   PMID:14596936   PMID:14646617   PMID:14702039   PMID:14718562   PMID:14744865   PMID:15067001   PMID:15210717   PMID:15339843  
PMID:15489334   PMID:15668389   PMID:16109716   PMID:16339545   PMID:16341931   PMID:16344560   PMID:16449386   PMID:16517737   PMID:16608858   PMID:16622417   PMID:16873675   PMID:16919239  
PMID:16923831   PMID:16978840   PMID:17065600   PMID:17069807   PMID:17071135   PMID:17081983   PMID:17130901   PMID:17433303   PMID:17627030   PMID:17640750   PMID:17724165   PMID:17726467  
PMID:17853892   PMID:17897319   PMID:17986621   PMID:18067864   PMID:18344600   PMID:18432522   PMID:18480413   PMID:18541525   PMID:18550814   PMID:18569866   PMID:18573349   PMID:18636075  
PMID:18694819   PMID:18945966   PMID:19086053   PMID:19366706   PMID:19487697   PMID:19707939   PMID:19763255   PMID:19896495   PMID:19913121   PMID:19946888   PMID:19994725   PMID:20158570  
PMID:20188462   PMID:20189990   PMID:20231899   PMID:20379614   PMID:20442281   PMID:20628086   PMID:20693286   PMID:20711340   PMID:21113078   PMID:21228924   PMID:21326806   PMID:21536681  
PMID:21620893   PMID:21760893   PMID:21873635   PMID:22024166   PMID:22457329   PMID:22504301   PMID:22609963   PMID:22718838   PMID:22797597   PMID:22824913   PMID:23131846   PMID:23178798  
PMID:23314176   PMID:23698760   PMID:23723068   PMID:23793974   PMID:23804711   PMID:23912460   PMID:24103483   PMID:24556997   PMID:24618697   PMID:24632948   PMID:24667918   PMID:24710276  
PMID:24802400   PMID:24990946   PMID:25172550   PMID:25197077   PMID:25361009   PMID:25489735   PMID:25523098   PMID:26020637   PMID:26186194   PMID:26250158   PMID:26335962   PMID:26344197  
PMID:26496610   PMID:26680696   PMID:27793751   PMID:27799408   PMID:27809301   PMID:28087476   PMID:28229303   PMID:28423060   PMID:28514442   PMID:28939743   PMID:28986032   PMID:29507755  
PMID:29571767   PMID:29987050   PMID:30021884   PMID:30369483   PMID:30511626   PMID:31379206   PMID:31586073   PMID:31753913   PMID:31871319   PMID:32067228   PMID:32067682   PMID:32393512  
PMID:32460013   PMID:32578172   PMID:32661773   PMID:32725633   PMID:32807901   PMID:32814053   PMID:32869317   PMID:33144569   PMID:33191863   PMID:33495125   PMID:33645542   PMID:33784016  
PMID:33961781   PMID:34079125   PMID:34315543   PMID:34320341   PMID:34431424   PMID:34432599   PMID:34810254   PMID:34876384  


Genomics

Comparative Map Data
PLD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383171,600,404 - 171,810,483 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl3171,600,404 - 171,810,950 (-)EnsemblGRCh38hg38GRCh38
GRCh373171,318,194 - 171,528,273 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363172,801,339 - 172,938,566 (-)NCBINCBI36hg18NCBI36
Build 343172,801,346 - 172,938,574NCBI
Celera3169,718,435 - 169,928,143 (-)NCBI
Cytogenetic Map3q26.31NCBI
HuRef3168,688,221 - 168,898,341 (-)NCBIHuRef
CHM1_13171,281,084 - 171,491,135 (-)NCBICHM1_1
T2T-CHM13v2.03174,384,521 - 174,594,617 (-)NCBI
Pld1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39327,992,636 - 28,187,511 (+)NCBIGRCm39mm39
GRCm39 Ensembl327,992,844 - 28,187,511 (+)Ensembl
GRCm38327,938,459 - 28,133,362 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl327,938,695 - 28,133,362 (+)EnsemblGRCm38mm10GRCm38
MGSCv37327,837,602 - 28,032,284 (+)NCBIGRCm37mm9NCBIm37
MGSCv36328,215,231 - 28,324,307 (+)NCBImm8
Celera327,897,052 - 28,088,894 (+)NCBICelera
Cytogenetic Map3A3NCBI
cM Map311.15NCBI
Pld1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22110,849,205 - 111,047,692 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl2110,893,608 - 111,047,692 (+)Ensembl
Rnor_6.02113,651,967 - 113,849,403 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2113,652,348 - 113,849,403 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02133,357,235 - 133,554,180 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42115,306,940 - 115,460,518 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12115,251,901 - 115,405,480 (+)NCBI
Celera2106,084,707 - 106,238,116 (+)NCBICelera
Cytogenetic Map2q24NCBI
Pld1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554201,696,751 - 1,892,741 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554201,697,716 - 1,892,741 (-)NCBIChiLan1.0ChiLan1.0
PLD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13176,790,736 - 176,999,974 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3176,790,753 - 176,961,033 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03168,606,342 - 168,816,383 (-)NCBIMhudiblu_PPA_v0panPan3
PLD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13435,917,759 - 36,080,383 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3435,921,058 - 36,121,631 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3444,928,877 - 45,133,990 (-)NCBI
ROS_Cfam_1.03436,000,267 - 36,205,332 (-)NCBI
ROS_Cfam_1.0 Ensembl3436,000,274 - 36,205,751 (-)Ensembl
UMICH_Zoey_3.13435,940,863 - 36,145,600 (-)NCBI
UNSW_CanFamBas_1.03435,903,822 - 36,109,331 (-)NCBI
UU_Cfam_GSD_1.03436,165,953 - 36,370,780 (-)NCBI
Pld1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602102,572,478 - 102,777,840 (-)NCBI
SpeTri2.0NW_004936593844,634 - 1,049,478 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13110,087,051 - 110,376,319 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113110,152,268 - 110,376,319 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213119,138,285 - 119,362,303 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PLD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11517,667,079 - 17,871,452 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1517,706,030 - 17,870,266 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606326,423,171 - 26,629,555 (+)NCBIVero_WHO_p1.0
Pld1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473049,665,432 - 49,885,184 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462473049,665,432 - 49,885,242 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
SHGC-77542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,358,108 - 171,358,264UniSTSGRCh37
Build 363172,840,802 - 172,840,958RGDNCBI36
Celera3169,757,930 - 169,758,086RGD
Cytogenetic Map3q26UniSTS
HuRef3168,728,125 - 168,728,281UniSTS
TNG Radiation Hybrid Map396201.0UniSTS
GeneMap99-GB4 RH Map3641.11UniSTS
NCBI RH Map31550.6UniSTS
SHGC-77547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,465,399 - 171,465,528UniSTSGRCh37
Build 363172,948,093 - 172,948,222RGDNCBI36
Celera3169,865,235 - 169,865,364RGD
Cytogenetic Map3q26UniSTS
HuRef3168,835,428 - 168,835,557UniSTS
TNG Radiation Hybrid Map396164.0UniSTS
GeneMap99-GB4 RH Map3643.31UniSTS
NCBI RH Map31550.6UniSTS
SHGC-84621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,446,407 - 171,446,717UniSTSGRCh37
Build 363172,929,101 - 172,929,411RGDNCBI36
Celera3169,846,243 - 169,846,553RGD
Cytogenetic Map3q26UniSTS
HuRef3168,816,435 - 168,816,745UniSTS
TNG Radiation Hybrid Map396172.0UniSTS
SHGC-148349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,488,062 - 171,488,375UniSTSGRCh37
Build 363172,970,756 - 172,971,069RGDNCBI36
Celera3169,887,912 - 169,888,225RGD
Cytogenetic Map3q26UniSTS
HuRef3168,858,234 - 168,858,547UniSTS
TNG Radiation Hybrid Map396156.0UniSTS
SHGC-154070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,509,793 - 171,510,065UniSTSGRCh37
Build 363172,992,487 - 172,992,759RGDNCBI36
Celera3169,909,664 - 169,909,936RGD
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map3q26UniSTS
HuRef3168,879,975 - 168,880,247UniSTS
TNG Radiation Hybrid Map396160.0UniSTS
PLD1_2295  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,318,501 - 171,319,245UniSTSGRCh37
Build 363172,801,195 - 172,801,939RGDNCBI36
Celera3169,718,320 - 169,719,064RGD
HuRef3168,688,527 - 168,689,271UniSTS
A004G48  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,320,603 - 171,320,879UniSTSGRCh37
Build 363172,803,297 - 172,803,573RGDNCBI36
Celera3169,720,422 - 169,720,698RGD
Cytogenetic Map3q26UniSTS
HuRef3168,690,629 - 168,690,905UniSTS
GeneMap99-GB4 RH Map3641.01UniSTS
NCBI RH Map31550.6UniSTS
RH48111  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,506,142 - 171,506,328UniSTSGRCh37
Build 363172,988,836 - 172,989,022RGDNCBI36
Celera3169,906,013 - 169,906,199RGD
Cytogenetic Map3q26UniSTS
HuRef3168,876,324 - 168,876,510UniSTS
GeneMap99-GB4 RH Map3643.31UniSTS
NCBI RH Map31550.6UniSTS
RH68800  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,505,226 - 171,505,402UniSTSGRCh37
Build 363172,987,920 - 172,988,096RGDNCBI36
Celera3169,905,098 - 169,905,274RGD
Cytogenetic Map3q26UniSTS
HuRef3168,875,408 - 168,875,584UniSTS
GeneMap99-GB4 RH Map3641.11UniSTS
NCBI RH Map31550.6UniSTS
A009V13  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,372,504 - 171,372,756UniSTSGRCh37
Build 363172,855,198 - 172,855,450RGDNCBI36
Celera3169,772,326 - 169,772,578RGD
Cytogenetic Map3q26UniSTS
HuRef3168,742,520 - 168,742,772UniSTS
GeneMap99-GB4 RH Map3642.64UniSTS
NCBI RH Map31550.6UniSTS
SHGC-32810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,320,827 - 171,320,976UniSTSGRCh37
Build 363172,803,521 - 172,803,670RGDNCBI36
Celera3169,720,646 - 169,720,795RGD
Cytogenetic Map3q26UniSTS
HuRef3168,690,853 - 168,691,002UniSTS
TNG Radiation Hybrid Map396724.0UniSTS
Stanford-G3 RH Map37788.0UniSTS
GeneMap99-GB4 RH Map3641.11UniSTS
Whitehead-RH Map3780.8UniSTS
NCBI RH Map31550.6UniSTS
GeneMap99-G3 RH Map38258.0UniSTS
RH77864  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,320,729 - 171,320,855UniSTSGRCh37
Build 363172,803,423 - 172,803,549RGDNCBI36
Celera3169,720,548 - 169,720,674RGD
Cytogenetic Map3q26UniSTS
HuRef3168,690,755 - 168,690,881UniSTS
GeneMap99-GB4 RH Map3641.11UniSTS
NCBI RH Map31550.6UniSTS
SHGC-14202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,333,222 - 171,333,319UniSTSGRCh37
Build 363172,815,916 - 172,816,013RGDNCBI36
Celera3169,733,043 - 169,733,140RGD
Cytogenetic Map3q26UniSTS
HuRef3168,703,244 - 168,703,341UniSTS
Stanford-G3 RH Map37885.0UniSTS
NCBI RH Map31574.4UniSTS
RH45153  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,318,669 - 171,318,789UniSTSGRCh37
Build 363172,801,363 - 172,801,483RGDNCBI36
Celera3169,718,488 - 169,718,608RGD
Cytogenetic Map3q26UniSTS
HuRef3168,688,695 - 168,688,815UniSTS
GeneMap99-GB4 RH Map3643.31UniSTS
NCBI RH Map31550.6UniSTS
HSCZTH032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,320,616 - 171,320,815UniSTSGRCh37
Build 363172,803,310 - 172,803,509RGDNCBI36
Celera3169,720,435 - 169,720,634RGD
Cytogenetic Map3q26UniSTS
HuRef3168,690,642 - 168,690,841UniSTS
GeneMap99-GB4 RH Map3641.11UniSTS
Whitehead-RH Map3778.6UniSTS
NCBI RH Map31550.6UniSTS
G32874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373171,372,504 - 171,372,756UniSTSGRCh37
Celera3169,772,326 - 169,772,578UniSTS
Cytogenetic Map3q26UniSTS
HuRef3168,742,520 - 168,742,772UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4726
Count of miRNA genes:1229
Interacting mature miRNAs:1566
Transcripts:ENST00000340989, ENST00000342215, ENST00000351298, ENST00000356327, ENST00000418087, ENST00000440204, ENST00000446289, ENST00000460926, ENST00000463281, ENST00000465816, ENST00000467432, ENST00000471075, ENST00000475273, ENST00000481505, ENST00000489995, ENST00000497307, ENST00000498278
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 145 234 309 151 390 88 1252 17 129 95 328 87 69 59 733 1
Low 2288 2675 1410 473 1338 377 2686 1747 3247 324 1122 1485 103 1 1145 1646 5 2
Below cutoff 4 79 7 125 418 433 345 9 32 3 409

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005247534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047448318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007095693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ276230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA325526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA464847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U38545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000331659   ⟹   ENSP00000328422
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,791,790 - 171,809,924 (-)Ensembl
RefSeq Acc Id: ENST00000351298   ⟹   ENSP00000342793
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,600,404 - 171,810,483 (-)Ensembl
RefSeq Acc Id: ENST00000356327   ⟹   ENSP00000348681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,600,405 - 171,810,438 (-)Ensembl
RefSeq Acc Id: ENST00000418087   ⟹   ENSP00000400639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,735,501 - 171,771,359 (-)Ensembl
RefSeq Acc Id: ENST00000440204   ⟹   ENSP00000391164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,726,004 - 171,810,462 (-)Ensembl
RefSeq Acc Id: ENST00000446289   ⟹   ENSP00000395556
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,611,466 - 171,674,516 (-)Ensembl
RefSeq Acc Id: ENST00000460926
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,788,567 - 171,810,441 (-)Ensembl
RefSeq Acc Id: ENST00000463281
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,600,405 - 171,602,338 (-)Ensembl
RefSeq Acc Id: ENST00000465816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,612,279 - 171,666,305 (-)Ensembl
RefSeq Acc Id: ENST00000467432
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,612,307 - 171,643,154 (-)Ensembl
RefSeq Acc Id: ENST00000471075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,653,242 - 171,677,853 (-)Ensembl
RefSeq Acc Id: ENST00000475273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,721,354 - 171,737,932 (-)Ensembl
RefSeq Acc Id: ENST00000481505
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,688,695 - 171,708,870 (-)Ensembl
RefSeq Acc Id: ENST00000489995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,765,129 - 171,771,385 (-)Ensembl
RefSeq Acc Id: ENST00000497307
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,788,581 - 171,810,950 (-)Ensembl
RefSeq Acc Id: ENST00000498278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,713,878 - 171,810,437 (-)Ensembl
RefSeq Acc Id: ENST00000627725   ⟹   ENSP00000486967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3171,735,624 - 171,738,051 (-)Ensembl
RefSeq Acc Id: NM_001130081   ⟹   NP_001123553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383171,600,404 - 171,810,483 (-)NCBI
GRCh373171,318,195 - 171,528,284 (-)NCBI
HuRef3168,688,221 - 168,898,341 (-)NCBI
CHM1_13171,281,084 - 171,491,135 (-)NCBI
T2T-CHM13v2.03174,384,521 - 174,594,617 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002662   ⟹   NP_002653
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383171,600,404 - 171,810,483 (-)NCBI
GRCh373171,318,195 - 171,528,284 (-)NCBI
Build 363172,801,339 - 172,938,566 (-)NCBI Archive
HuRef3168,688,221 - 168,898,341 (-)NCBI
CHM1_13171,281,084 - 171,491,135 (-)NCBI
T2T-CHM13v2.03174,384,521 - 174,594,617 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247533   ⟹   XP_005247590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383171,600,404 - 171,771,326 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005247534   ⟹   XP_005247591
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383171,600,404 - 171,771,326 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512897   ⟹   XP_011511199
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383171,611,466 - 171,771,326 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512898   ⟹   XP_011511200
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383171,605,329 - 171,771,326 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512899   ⟹   XP_011511201
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383171,600,404 - 171,696,492 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006624   ⟹   XP_016862113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383171,600,404 - 171,696,492 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448316   ⟹   XP_047304272
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383171,600,404 - 171,797,390 (-)NCBI
RefSeq Acc Id: XM_047448317   ⟹   XP_047304273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383171,611,466 - 171,771,326 (-)NCBI
RefSeq Acc Id: XM_047448318   ⟹   XP_047304274
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383171,600,404 - 171,711,816 (-)NCBI
RefSeq Acc Id: XR_007095693
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383171,662,081 - 171,771,326 (-)NCBI
Reference Sequences
RefSeq Acc Id: NP_001123553   ⟸   NM_001130081
- Peptide Label: isoform b
- UniProtKB: Q59EA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002653   ⟸   NM_002662
- Peptide Label: isoform a
- UniProtKB: Q13393 (UniProtKB/Swiss-Prot),   Q59EA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005247591   ⟸   XM_005247534
- Peptide Label: isoform X2
- UniProtKB: Q13393 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005247590   ⟸   XM_005247533
- Peptide Label: isoform X1
- UniProtKB: Q13393 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011511201   ⟸   XM_011512899
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011511200   ⟸   XM_011512898
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011511199   ⟸   XM_011512897
- Peptide Label: isoform X3
- UniProtKB: Q13393 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016862113   ⟸   XM_017006624
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000328422   ⟸   ENST00000331659
RefSeq Acc Id: ENSP00000391164   ⟸   ENST00000440204
RefSeq Acc Id: ENSP00000486967   ⟸   ENST00000627725
RefSeq Acc Id: ENSP00000400639   ⟸   ENST00000418087
RefSeq Acc Id: ENSP00000342793   ⟸   ENST00000351298
RefSeq Acc Id: ENSP00000395556   ⟸   ENST00000446289
RefSeq Acc Id: ENSP00000348681   ⟸   ENST00000356327
RefSeq Acc Id: XP_047304272   ⟸   XM_047448316
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047304274   ⟸   XM_047448318
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047304273   ⟸   XM_047448317
- Peptide Label: isoform X5
Protein Domains
PH   PLD phosphodiesterase   PX

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q13393-F1-model_v2 AlphaFold Q13393 1-1074 view protein structure

Promoters
RGD ID:6866282
Promoter ID:EPDNEW_H6306
Type:initiation region
Name:PLD1_1
Description:phospholipase D1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383171,810,464 - 171,810,524EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002662.4(PLD1):c.540+661A>G single nucleotide variant Lung cancer [RCV000093275] Chr3:171734204 [GRCh38]
Chr3:171451994 [GRCh37]
Chr3:3q26.31		 uncertain significance
GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3 copy number gain See cases [RCV000051724] Chr3:147442566..178522531 [GRCh38]
Chr3:147160353..178240319 [GRCh37]
Chr3:148643043..179723013 [NCBI36]
Chr3:3q24-26.32		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3 copy number gain See cases [RCV000051735] Chr3:158141556..172788324 [GRCh38]
Chr3:157859345..172506114 [GRCh37]
Chr3:159342039..173988808 [NCBI36]
Chr3:3q25.32-26.31		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
NM_002662.4(PLD1):c.1277C>T (p.Ala426Val) single nucleotide variant Malignant melanoma [RCV000065927] Chr3:171692393 [GRCh38]
Chr3:171410183 [GRCh37]
Chr3:172892877 [NCBI36]
Chr3:3q26.31		 not provided
NM_002662.5(PLD1):c.1192C>T (p.Arg398Cys) single nucleotide variant not provided [RCV000882914] Chr3:171699780 [GRCh38]
Chr3:171417570 [GRCh37]
Chr3:172900264 [NCBI36]
Chr3:3q26.31		 benign|not provided
NM_002662.5(PLD1):c.2531A>G (p.His844Arg) single nucleotide variant Inborn genetic diseases [RCV000190783] Chr3:171644922 [GRCh38]
Chr3:171362712 [GRCh37]
Chr3:3q26.31		 likely pathogenic
NM_002662.5(PLD1):c.1319G>A (p.Arg440His) single nucleotide variant Cardiac valvular defect, developmental [RCV001331676] Chr3:171692351 [GRCh38]
Chr3:171410141 [GRCh37]
Chr3:3q26.31		 uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3 copy number gain See cases [RCV000139359] Chr3:165158611..180130168 [GRCh38]
Chr3:164876399..179847956 [GRCh37]
Chr3:166359093..181330650 [NCBI36]
Chr3:3q26.1-26.33		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3 copy number gain See cases [RCV000142107] Chr3:167717962..188365272 [GRCh38]
Chr3:167435750..188083060 [GRCh37]
Chr3:168918444..189565754 [NCBI36]
Chr3:3q26.1-28		 likely pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4 copy number gain See cases [RCV000240256] Chr3:142995020..192997215 [GRCh37]
Chr3:3q24-29		 pathogenic
NM_002662.5(PLD1):c.1325A>C (p.His442Pro) single nucleotide variant Cardiac valvular defect, developmental [RCV000488889] Chr3:171692345 [GRCh38]
Chr3:171410135 [GRCh37]
Chr3:3q26.31		 pathogenic
NM_002662.5(PLD1):c.1484_1485del (p.Thr495fs) microsatellite Cardiac valvular defect, developmental [RCV000488900]|not provided [RCV001726194] Chr3:171688730..171688731 [GRCh38]
Chr3:171406520..171406521 [GRCh37]
Chr3:3q26.31		 pathogenic|likely pathogenic
NM_002662.5(PLD1):c.2882+2T>C single nucleotide variant Cardiac valvular defect, developmental [RCV000488913] Chr3:171612277 [GRCh38]
Chr3:171330067 [GRCh37]
Chr3:3q26.31		 pathogenic
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)x3 copy number gain See cases [RCV000446611] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33		 pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
GRCh37/hg19 3q26.31(chr3:171519792-172052769)x3 copy number gain See cases [RCV000510450] Chr3:171519792..172052769 [GRCh37]
Chr3:3q26.31		 likely benign
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_002662.5(PLD1):c.607-89A>T single nucleotide variant not provided [RCV001611670] Chr3:171726165 [GRCh38]
Chr3:171443955 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.665+73C>T single nucleotide variant not provided [RCV001535217] Chr3:171725945 [GRCh38]
Chr3:171443735 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2458G>A (p.Val820Met) single nucleotide variant not provided [RCV001666880] Chr3:171644995 [GRCh38]
Chr3:171362785 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1228-325G>A single nucleotide variant not provided [RCV001663001] Chr3:171692767 [GRCh38]
Chr3:171410557 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2230-214C>T single nucleotide variant not provided [RCV001611798] Chr3:171662384 [GRCh38]
Chr3:171380174 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1220G>A (p.Arg407Gln) single nucleotide variant not provided [RCV000883127] Chr3:171699752 [GRCh38]
Chr3:171417542 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.1534C>T (p.Leu512Phe) single nucleotide variant not provided [RCV000900994] Chr3:171688681 [GRCh38]
Chr3:171406471 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1541C>T (p.Pro514Leu) single nucleotide variant not provided [RCV000950662] Chr3:171687583 [GRCh38]
Chr3:171405373 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.3070G>A (p.Val1024Ile) single nucleotide variant not provided [RCV000880218] Chr3:171603233 [GRCh38]
Chr3:171321023 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.145C>G (p.Pro49Ala) single nucleotide variant not provided [RCV000880220] Chr3:171737907 [GRCh38]
Chr3:171455697 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1754-4C>G single nucleotide variant not provided [RCV000959563] Chr3:171686802 [GRCh38]
Chr3:171404592 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.1365A>G (p.Ser455=) single nucleotide variant not provided [RCV000975020] Chr3:171688850 [GRCh38]
Chr3:171406640 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.288+9G>A single nucleotide variant not provided [RCV000919733] Chr3:171737523 [GRCh38]
Chr3:171455313 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.141C>T (p.Ser47=) single nucleotide variant not provided [RCV000971358] Chr3:171737911 [GRCh38]
Chr3:171455701 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.804C>T (p.Asp268=) single nucleotide variant not provided [RCV000924917] Chr3:171714000 [GRCh38]
Chr3:171431790 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.103T>C (p.Phe35Leu) single nucleotide variant not provided [RCV000897949] Chr3:171737949 [GRCh38]
Chr3:171455739 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.868G>C (p.Glu290Gln) single nucleotide variant not provided [RCV000958531] Chr3:171713936 [GRCh38]
Chr3:171431726 [GRCh37]
Chr3:3q26.31		 likely benign
GRCh37/hg19 3q26.31(chr3:171377240-171419918)x3 copy number gain not provided [RCV000846242] Chr3:171377240..171419918 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.540+219C>A single nucleotide variant not provided [RCV001662890] Chr3:171734646 [GRCh38]
Chr3:171452436 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2430-1G>A single nucleotide variant not provided [RCV001200277] Chr3:171645024 [GRCh38]
Chr3:171362814 [GRCh37]
Chr3:3q26.31		 pathogenic
NM_002662.5(PLD1):c.1339-154G>A single nucleotide variant not provided [RCV001635884] Chr3:171689030 [GRCh38]
Chr3:171406820 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2544-253C>A single nucleotide variant not provided [RCV001675528] Chr3:171643142 [GRCh38]
Chr3:171360932 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1997-202G>A single nucleotide variant not provided [RCV001597968] Chr3:171677035 [GRCh38]
Chr3:171394825 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2341-150T>A single nucleotide variant not provided [RCV001649472] Chr3:171659451 [GRCh38]
Chr3:171377241 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.665+201G>C single nucleotide variant not provided [RCV001651731] Chr3:171725817 [GRCh38]
Chr3:171443607 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2430-164T>C single nucleotide variant not provided [RCV001657505] Chr3:171645187 [GRCh38]
Chr3:171362977 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2883-99A>G single nucleotide variant not provided [RCV001611626] Chr3:171605515 [GRCh38]
Chr3:171323305 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.3186G>A (p.Gly1062=) single nucleotide variant not provided [RCV001676496] Chr3:171603117 [GRCh38]
Chr3:171320907 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1884T>C (p.Arg628=) single nucleotide variant not provided [RCV001687597] Chr3:171677678 [GRCh38]
Chr3:171395468 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1062-133C>A single nucleotide variant not provided [RCV001653262] Chr3:171708971 [GRCh38]
Chr3:171426761 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1864G>T (p.Ala622Ser) single nucleotide variant Cardiac valvular defect, developmental [RCV001789525]|not provided [RCV001683792] Chr3:171686688 [GRCh38]
Chr3:171404478 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1228-8T>C single nucleotide variant not provided [RCV000922410] Chr3:171692450 [GRCh38]
Chr3:171410240 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.1456A>C (p.Arg486=) single nucleotide variant not provided [RCV000930294] Chr3:171688759 [GRCh38]
Chr3:171406549 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.1716C>T (p.His572=) single nucleotide variant not provided [RCV000908378] Chr3:171687408 [GRCh38]
Chr3:171405198 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.1658A>G (p.Lys553Arg) single nucleotide variant not provided [RCV000907975] Chr3:171687466 [GRCh38]
Chr3:171405256 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.1997-7C>T single nucleotide variant not provided [RCV000903407] Chr3:171676840 [GRCh38]
Chr3:171394630 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.1683T>C (p.Ser561=) single nucleotide variant not provided [RCV000908612] Chr3:171687441 [GRCh38]
Chr3:171405231 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2852T>A (p.Phe951Tyr) single nucleotide variant not provided [RCV000930677] Chr3:171612309 [GRCh38]
Chr3:171330099 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.494G>A (p.Arg165His) single nucleotide variant not provided [RCV000953207] Chr3:171734911 [GRCh38]
Chr3:171452701 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.2289C>T (p.His763=) single nucleotide variant not provided [RCV000880219] Chr3:171662111 [GRCh38]
Chr3:171379901 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1404C>T (p.Val468=) single nucleotide variant not provided [RCV000916644] Chr3:171688811 [GRCh38]
Chr3:171406601 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.2439G>A (p.Gln813=) single nucleotide variant not provided [RCV000922128] Chr3:171645014 [GRCh38]
Chr3:171362804 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.3084A>G (p.Glu1028=) single nucleotide variant not provided [RCV000956156] Chr3:171603219 [GRCh38]
Chr3:171321009 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.30T>C (p.Asn10=) single nucleotide variant not provided [RCV000956157] Chr3:171738022 [GRCh38]
Chr3:171455812 [GRCh37]
Chr3:3q26.31		 benign
GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3 copy number gain not provided [RCV001005487] Chr3:169617690..190593854 [GRCh37]
Chr3:3q26.2-28		 pathogenic
NM_002662.5(PLD1):c.3001-222A>G single nucleotide variant not provided [RCV001594651] Chr3:171603524 [GRCh38]
Chr3:171321314 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.540+10T>C single nucleotide variant not provided [RCV001675221] Chr3:171734855 [GRCh38]
Chr3:171452645 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1540-50C>T single nucleotide variant not provided [RCV001642025] Chr3:171687634 [GRCh38]
Chr3:171405424 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1228-294C>G single nucleotide variant not provided [RCV001617504] Chr3:171692736 [GRCh38]
Chr3:171410526 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.758+195G>A single nucleotide variant not provided [RCV001655967] Chr3:171724501 [GRCh38]
Chr3:171442291 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.540+252A>G single nucleotide variant not provided [RCV001721788] Chr3:171734613 [GRCh38]
Chr3:171452403 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1996+331C>T single nucleotide variant not provided [RCV001674337] Chr3:171677235 [GRCh38]
Chr3:171395025 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.666-196C>T single nucleotide variant not provided [RCV001684073] Chr3:171724984 [GRCh38]
Chr3:171442774 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1146-228GA[13] microsatellite not provided [RCV001686800] Chr3:171700034..171700035 [GRCh38]
Chr3:171417824..171417825 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.288+134A>G single nucleotide variant not provided [RCV001710386] Chr3:171737398 [GRCh38]
Chr3:171455188 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2882+88A>G single nucleotide variant not provided [RCV001613882] Chr3:171612191 [GRCh38]
Chr3:171329981 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1996+33T>C single nucleotide variant not provided [RCV001713752] Chr3:171677533 [GRCh38]
Chr3:171395323 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.912-46A>G single nucleotide variant not provided [RCV001679841] Chr3:171709755 [GRCh38]
Chr3:171427545 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.666-173del deletion not provided [RCV001695406] Chr3:171724961 [GRCh38]
Chr3:171442751 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2681A>C (p.Tyr894Ser) single nucleotide variant not provided [RCV001583072] Chr3:171620433 [GRCh38]
Chr3:171338223 [GRCh37]
Chr3:3q26.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_002662.5(PLD1):c.3000+215A>G single nucleotide variant not provided [RCV001609757] Chr3:171605084 [GRCh38]
Chr3:171322874 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.*262A>G single nucleotide variant not provided [RCV001679927] Chr3:171602816 [GRCh38]
Chr3:171320606 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.607-113T>A single nucleotide variant not provided [RCV001645056] Chr3:171726189 [GRCh38]
Chr3:171443979 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2115+173del deletion not provided [RCV001651572] Chr3:171676542 [GRCh38]
Chr3:171394332 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1228-257G>C single nucleotide variant not provided [RCV001612609] Chr3:171692699 [GRCh38]
Chr3:171410489 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2883-187G>A single nucleotide variant not provided [RCV001713781] Chr3:171605603 [GRCh38]
Chr3:171323393 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.540+256T>C single nucleotide variant not provided [RCV001649459] Chr3:171734609 [GRCh38]
Chr3:171452399 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.666-57G>A single nucleotide variant not provided [RCV001681539] Chr3:171724845 [GRCh38]
Chr3:171442635 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.758+99A>C single nucleotide variant not provided [RCV001709278] Chr3:171724597 [GRCh38]
Chr3:171442387 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1238T>C (p.Val413Ala) single nucleotide variant not provided [RCV001200278] Chr3:171692432 [GRCh38]
Chr3:171410222 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.1219C>T (p.Arg407Ter) single nucleotide variant Cardiac valvular defect, developmental [RCV001280621] Chr3:171699753 [GRCh38]
Chr3:171417543 [GRCh37]
Chr3:3q26.31		 likely pathogenic
NM_002662.5(PLD1):c.2667A>C (p.Val889=) single nucleotide variant Cardiac valvular defect, developmental [RCV001789424]|not provided [RCV001536625] Chr3:171620447 [GRCh38]
Chr3:171338237 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2543+1G>T single nucleotide variant Cardiac valvular defect, developmental [RCV001336489]|not provided [RCV001871888] Chr3:171644909 [GRCh38]
Chr3:171362699 [GRCh37]
Chr3:3q26.31		 likely pathogenic
NM_002662.5(PLD1):c.2083C>T (p.Arg695Cys) single nucleotide variant not provided [RCV001281628] Chr3:171676747 [GRCh38]
Chr3:171394537 [GRCh37]
Chr3:3q26.31		 likely pathogenic
NM_002662.5(PLD1):c.498del (p.Ser167fs) deletion Cardiac valvular defect, developmental [RCV001283773] Chr3:171734907 [GRCh38]
Chr3:171452697 [GRCh37]
Chr3:3q26.31		 likely pathogenic
NM_002662.5(PLD1):c.1937G>C (p.Gly646Ala) single nucleotide variant not provided [RCV001369482] Chr3:171677625 [GRCh38]
Chr3:171395415 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.1597C>T (p.Gln533Ter) single nucleotide variant Cardiac valvular defect, developmental [RCV001330954] Chr3:171687527 [GRCh38]
Chr3:171405317 [GRCh37]
Chr3:3q26.31		 pathogenic
NM_002662.5(PLD1):c.269G>A (p.Arg90His) single nucleotide variant not provided [RCV002116746] Chr3:171737551 [GRCh38]
Chr3:171455341 [GRCh37]
Chr3:3q26.31		 benign|uncertain significance
NM_002662.4:c.912delG deletion Cardiac valvular defect, developmental [RCV001294002] Chr3:171709709 [GRCh38]
Chr3:171427499 [GRCh37]
Chr3:3q26.31		 pathogenic
NM_002662.5(PLD1):c.1543G>A (p.Ala515Thr) single nucleotide variant Cardiac valvular defect, developmental [RCV001336488] Chr3:171687581 [GRCh38]
Chr3:171405371 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.2569A>G (p.Ile857Val) single nucleotide variant Cardiac valvular defect, developmental [RCV001336490] Chr3:171642864 [GRCh38]
Chr3:171360654 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.893G>A (p.Arg298Gln) single nucleotide variant Cardiac valvular defect, developmental [RCV001336491] Chr3:171713911 [GRCh38]
Chr3:171431701 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.91C>T (p.Arg31Trp) single nucleotide variant Cardiac valvular defect, developmental [RCV001330955] Chr3:171737961 [GRCh38]
Chr3:171455751 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.2620T>G (p.Ser874Ala) single nucleotide variant not provided [RCV001992368] Chr3:171620494 [GRCh38]
Chr3:171338284 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.289-224C>T single nucleotide variant not provided [RCV001536359] Chr3:171735861 [GRCh38]
Chr3:171453651 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.665+211C>T single nucleotide variant not provided [RCV001690963] Chr3:171725807 [GRCh38]
Chr3:171443597 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2430-118C>T single nucleotide variant not provided [RCV001671460] Chr3:171645141 [GRCh38]
Chr3:171362931 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.912-82G>A single nucleotide variant not provided [RCV001694426] Chr3:171709791 [GRCh38]
Chr3:171427581 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2882+93A>G single nucleotide variant not provided [RCV001685072] Chr3:171612186 [GRCh38]
Chr3:171329976 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1996+76A>G single nucleotide variant not provided [RCV001610188] Chr3:171677490 [GRCh38]
Chr3:171395280 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2340+313C>T single nucleotide variant not provided [RCV001619175] Chr3:171661747 [GRCh38]
Chr3:171379537 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1753+1G>A single nucleotide variant not provided [RCV001378683] Chr3:171687370 [GRCh38]
Chr3:171405160 [GRCh37]
Chr3:3q26.31		 likely pathogenic
NM_002662.5(PLD1):c.880A>T (p.Lys294Ter) single nucleotide variant not provided [RCV001383711] Chr3:171713924 [GRCh38]
Chr3:171431714 [GRCh37]
Chr3:3q26.31		 pathogenic
NM_002662.5(PLD1):c.1981G>C (p.Asp661His) single nucleotide variant not provided [RCV001771028] Chr3:171677581 [GRCh38]
Chr3:171395371 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.2098C>T (p.Arg700Cys) single nucleotide variant not provided [RCV001767548] Chr3:171676732 [GRCh38]
Chr3:171394522 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.1416del (p.Gln472fs) deletion not provided [RCV001765265] Chr3:171688799 [GRCh38]
Chr3:171406589 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.1982A>T (p.Asp661Val) single nucleotide variant not provided [RCV001765314] Chr3:171677580 [GRCh38]
Chr3:171395370 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.2391A>G (p.Ile797Met) single nucleotide variant not provided [RCV001770570] Chr3:171659251 [GRCh38]
Chr3:171377041 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.607-2A>C single nucleotide variant not provided [RCV001769290] Chr3:171726078 [GRCh38]
Chr3:171443868 [GRCh37]
Chr3:3q26.31		 pathogenic|uncertain significance
NM_002662.5(PLD1):c.1990T>C (p.Phe664Leu) single nucleotide variant not provided [RCV001896002] Chr3:171677572 [GRCh38]
Chr3:171395362 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.622A>T (p.Ile208Leu) single nucleotide variant not provided [RCV002021568] Chr3:171726061 [GRCh38]
Chr3:171443851 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.2452T>C (p.Tyr818His) single nucleotide variant not provided [RCV002039833] Chr3:171645001 [GRCh38]
Chr3:171362791 [GRCh37]
Chr3:3q26.31		 uncertain significance
GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333) copy number gain not specified [RCV002053382] Chr3:157128738..181637333 [GRCh37]
Chr3:3q25.32-26.33		 pathogenic
NM_002662.5(PLD1):c.2248G>A (p.Asp750Asn) single nucleotide variant not provided [RCV001968504] Chr3:171662152 [GRCh38]
Chr3:171379942 [GRCh37]
Chr3:3q26.31		 uncertain significance
NC_000003.11:g.(?_171320868)_(171360699_?)del deletion not provided [RCV001985741] Chr3:171320868..171360699 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.2864T>C (p.Leu955Pro) single nucleotide variant not provided [RCV001893756] Chr3:171612297 [GRCh38]
Chr3:171330087 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.971A>C (p.Glu324Ala) single nucleotide variant not provided [RCV001908569] Chr3:171709650 [GRCh38]
Chr3:171427440 [GRCh37]
Chr3:3q26.31		 uncertain significance
GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3 copy number gain not provided [RCV001827868] Chr3:168118411..179867071 [GRCh37]
Chr3:3q26.2-26.33		 likely pathogenic
NM_002662.5(PLD1):c.3052G>A (p.Asp1018Asn) single nucleotide variant not provided [RCV001943218] Chr3:171603251 [GRCh38]
Chr3:171321041 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.85G>C (p.Asp29His) single nucleotide variant not provided [RCV001932739] Chr3:171737967 [GRCh38]
Chr3:171455757 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.1388A>G (p.His463Arg) single nucleotide variant not provided [RCV001943492] Chr3:171688827 [GRCh38]
Chr3:171406617 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.456C>G (p.Asn152Lys) single nucleotide variant not provided [RCV001958582] Chr3:171734949 [GRCh38]
Chr3:171452739 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.2146T>C (p.Tyr716His) single nucleotide variant not provided [RCV001940962] Chr3:171674583 [GRCh38]
Chr3:171392373 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.1319G>C (p.Arg440Pro) single nucleotide variant not provided [RCV001990118] Chr3:171692351 [GRCh38]
Chr3:171410141 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.1859C>T (p.Pro620Leu) single nucleotide variant not provided [RCV001878361] Chr3:171686693 [GRCh38]
Chr3:171404483 [GRCh37]
Chr3:3q26.31		 uncertain significance
NM_002662.5(PLD1):c.2374G>C (p.Val792Leu) single nucleotide variant not provided [RCV002124649] Chr3:171659268 [GRCh38]
Chr3:171377058 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.1540-10T>A single nucleotide variant not provided [RCV002116031] Chr3:171687594 [GRCh38]
Chr3:171405384 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.709G>T (p.Gly237Cys) single nucleotide variant not provided [RCV002116849] Chr3:171724745 [GRCh38]
Chr3:171442535 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.1146-16G>C single nucleotide variant not provided [RCV002136927] Chr3:171699842 [GRCh38]
Chr3:171417632 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2547C>T (p.Thr849=) single nucleotide variant not provided [RCV002201483] Chr3:171642886 [GRCh38]
Chr3:171360676 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.1146-16G>A single nucleotide variant not provided [RCV002122977] Chr3:171699842 [GRCh38]
Chr3:171417632 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2594-14T>G single nucleotide variant not provided [RCV002139981] Chr3:171620534 [GRCh38]
Chr3:171338324 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.1868-20G>C single nucleotide variant not provided [RCV002184254] Chr3:171677714 [GRCh38]
Chr3:171395504 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.547C>T (p.Leu183=) single nucleotide variant not provided [RCV002175203] Chr3:171733503 [GRCh38]
Chr3:171451293 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.1996+14T>C single nucleotide variant not provided [RCV002097951] Chr3:171677552 [GRCh38]
Chr3:171395342 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2729-14G>C single nucleotide variant not provided [RCV002144462] Chr3:171612446 [GRCh38]
Chr3:171330236 [GRCh37]
Chr3:3q26.31		 benign
NM_002662.5(PLD1):c.2576G>A (p.Gly859Glu) single nucleotide variant not provided [RCV002200267] Chr3:171642857 [GRCh38]
Chr3:171360647 [GRCh37]
Chr3:3q26.31		 likely benign
NM_002662.5(PLD1):c.161-3del deletion not provided [RCV002136875] Chr3:171737662 [GRCh38]
Chr3:171455452 [GRCh37]
Chr3:3q26.31		 benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9067 AgrOrtholog
COSMIC PLD1 COSMIC
Ensembl Genes ENSG00000075651 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000328422 UniProtKB/TrEMBL
  ENSP00000342793 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000348681 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000391164 UniProtKB/TrEMBL
  ENSP00000395556 UniProtKB/TrEMBL
  ENSP00000400639 UniProtKB/TrEMBL
  ENSP00000486967 UniProtKB/TrEMBL
Ensembl Transcript ENST00000331659 UniProtKB/TrEMBL
  ENST00000351298 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000356327 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000418087 UniProtKB/TrEMBL
  ENST00000440204 UniProtKB/TrEMBL
  ENST00000446289 UniProtKB/TrEMBL
  ENST00000627725 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.1520.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000075651 GTEx
HGNC ID HGNC:9067 ENTREZGENE
Human Proteome Map PLD1 Human Proteome Map
InterPro PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phox UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLD-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLipase_D/transphosphatidylase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLipase_D_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLipase_D_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PX_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5337 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5337 ENTREZGENE
OMIM 212093 OMIM
  602382 OMIM
PANTHER PTHR18896 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00787 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLDc_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164742228 PharmGKB
PIRSF Phospholipase_D_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PLD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50195 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PLDc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00312 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF64268 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9IY79_HUMAN UniProtKB/TrEMBL
  F8WBV7_HUMAN UniProtKB/TrEMBL
  H7C0L3_HUMAN UniProtKB/TrEMBL
  PLD1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q59EA4 ENTREZGENE, UniProtKB/TrEMBL
  Q8WYW5_HUMAN UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PLD1  phospholipase D1  PLD1  phospholipase D1, phosphatidylcholine-specific  Symbol and/or name change 5135510 APPROVED