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Gene: PLIN5 (perilipin 5) Homo sapiens

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Symbol:

PLIN5

Name:

perilipin 5

RGD ID:

2881444

HGNC Page

HGNC:33196

Description:

Predicted to enable identical protein binding activity and lipase binding activity. Predicted to be involved in several processes, including negative regulation of peroxisome proliferator activated receptor signaling pathway; positive regulation of triglyceride storage; and regulation of lipid metabolic process. Located in intracellular membrane-bounded organelle and lipid droplet.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

lipid storage droplet protein 5; LSDA5; LSDP5; MLDP; OXPAT; perilipin-5

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Plin5 (perilipin 5)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Plin5 (perilipin 5)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Plin5 (perilipin 5)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	PLIN5 (perilipin 5)	NCBI	Ortholog
Canis lupus familiaris (dog):	PLIN5 (perilipin 5)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Plin5 (perilipin 5)	NCBI	Ortholog
Sus scrofa (pig):	PLIN5 (perilipin 5)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	PLIN5 (perilipin 5)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Plin5 (perilipin 5)	NCBI	Ortholog
Alliance orthologs ³
Mus musculus (house mouse):	Plin5 (perilipin 5)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Plin5 (perilipin 5)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Lsd-1	Alliance	DIOPT (InParanoid\|OrthoFinder\|PANTHER)
Drosophila melanogaster (fruit fly):	Lsd-2	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER)
Xenopus tropicalis (tropical clawed frog):	plin3	Alliance	DIOPT (Ensembl Compara\|PANTHER\|PhylomeDB)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	4,522,531 - 4,535,224 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	4,522,531 - 4,535,224 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	4,522,543 - 4,535,236 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	4,473,543 - 4,486,208 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	4,461,329 - 4,473,994 (-)	NCBI		Celera
Cytogenetic Map	19	p13.3	NCBI
HuRef	19	4,284,194 - 4,296,925 (-)	NCBI		HuRef
CHM1_1	19	4,522,721 - 4,535,399 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	4,506,212 - 4,518,891 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLIN5	Human	amenorrhea		IAGP	RGD:14351609	8554872	ClinVar Annotator: match by term: Primary amenorrhea	ClinVar	PMID:21681106

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLIN5	Human	(1->4)-beta-D-glucan	multiple interactions	ISO	RGD:1557014	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of PLIN5 mRNA	CTD	PMID:36331819
PLIN5	Human	1-naphthyl isothiocyanate	decreases expression	ISO	RGD:1589602	6480464	1-Naphthylisothiocyanate results in decreased expression of PLIN5 mRNA	CTD	PMID:30723492
PLIN5	Human	17beta-estradiol	increases expression	ISO	RGD:1557014	6480464	Estradiol results in increased expression of PLIN5 mRNA	CTD	PMID:19484750\|PMID:39298647
PLIN5	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of PLIN5 mRNA	CTD	PMID:31614463
PLIN5	Human	17beta-estradiol	multiple interactions	EXP		6480464	[Estradiol co-treated with TGFB1 protein] results in decreased expression of PLIN5 mRNA	CTD	PMID:30165855
PLIN5	Human	2,2',4,4'-Tetrabromodiphenyl ether	decreases expression	ISO	RGD:1557014	6480464	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of PLIN5 mRNA	CTD	PMID:38040069
PLIN5	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	RGD:1557014	6480464	Tetrachlorodibenzodioxin results in decreased expression of PLIN5 mRNA	CTD	PMID:19770486\|PMID:25270620\|PMID:28922406
PLIN5	Human	3,3',5,5'-tetrabromobisphenol A	multiple interactions	ISO	RGD:1589602	6480464	tetrabromobisphenol A promotes the reaction [[Oleic Acid co-treated with Palmitic Acid] results in increased expression more ...	CTD	PMID:25048947
PLIN5	Human	3-isobutyl-1-methyl-7H-xanthine	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] more ...	CTD	PMID:28628672
PLIN5	Human	4,4'-sulfonyldiphenol	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol S] more ...	CTD	PMID:28628672
PLIN5	Human	4,4'-sulfonyldiphenol	increases expression	ISO	RGD:1557014	6480464	bisphenol S results in increased expression of PLIN5 mRNA	CTD	PMID:39298647
PLIN5	Human	4-hydroxyphenyl retinamide	increases expression	ISO	RGD:1557014	6480464	Fenretinide results in increased expression of PLIN5 mRNA	CTD	PMID:28973697
PLIN5	Human	6-propyl-2-thiouracil	increases expression	ISO	RGD:1589602	6480464	Propylthiouracil results in increased expression of PLIN5 mRNA	CTD	PMID:24780913
PLIN5	Human	acrylamide	increases expression	ISO	RGD:1589602	6480464	Acrylamide results in increased expression of PLIN5 mRNA	CTD	PMID:28959563
PLIN5	Human	aflatoxin B1	decreases expression	ISO	RGD:1557014	6480464	Aflatoxin B1 results in decreased expression of PLIN5 mRNA	CTD	PMID:19770486
PLIN5	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of PLIN5 mRNA	CTD	PMID:23724009
PLIN5	Human	alpha-Zearalanol	multiple interactions	ISO	RGD:1589602	6480464	[Zeranol co-treated with perfluorooctanoic acid] results in increased expression of PLIN5 mRNA	CTD	PMID:35163327
PLIN5	Human	amphetamine	increases expression	ISO	RGD:1589602	6480464	Amphetamine results in increased expression of PLIN5 mRNA	CTD	PMID:30779732
PLIN5	Human	antirheumatic drug	decreases expression	EXP		6480464	Antirheumatic Agents results in decreased expression of PLIN5 mRNA	CTD	PMID:24449571
PLIN5	Human	benzo[a]pyrene	decreases expression	ISO	RGD:1557014	6480464	Benzo(a)pyrene results in decreased expression of PLIN5 mRNA	CTD	PMID:19770486
PLIN5	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of PLIN5 mRNA	CTD	PMID:32234424
PLIN5	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of PLIN5 promoter	CTD	PMID:27901495
PLIN5	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of PLIN5 5' UTR	CTD	PMID:27901495
PLIN5	Human	benzo[b]fluoranthene	decreases expression	ISO	RGD:1557014	6480464	benzo(b)fluoranthene results in decreased expression of PLIN5 mRNA	CTD	PMID:26377693
PLIN5	Human	bis(2-ethylhexyl) phthalate	multiple interactions	ISO	RGD:1589602	6480464	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of PLIN5 more ...	CTD	PMID:23359474
PLIN5	Human	bis(2-ethylhexyl) phthalate	multiple interactions	ISO	RGD:1557014	6480464	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with diisononyl phthalate co-treated with Dibutyl Phthalate co-treated more ...	CTD	PMID:39150890
PLIN5	Human	bis(2-ethylhexyl) phthalate	decreases expression	EXP		6480464	Diethylhexyl Phthalate results in decreased expression of PLIN5 mRNA	CTD	PMID:31163220
PLIN5	Human	bisphenol A	multiple interactions	ISO	RGD:1589602	6480464	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of PLIN5 more ...	CTD	PMID:23359474
PLIN5	Human	bisphenol A	increases expression	ISO	RGD:1589602	6480464	bisphenol A results in increased expression of PLIN5 mRNA	CTD	PMID:34947998
PLIN5	Human	bisphenol A	increases expression	ISO	RGD:1557014	6480464	bisphenol A results in increased expression of PLIN5 mRNA	CTD	PMID:32156529\|PMID:33221593
PLIN5	Human	bisphenol A	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] more ...	CTD	PMID:28628672
PLIN5	Human	bisphenol A	increases methylation	ISO	RGD:1589602	6480464	bisphenol A results in increased methylation of PLIN5 gene	CTD	PMID:28505145
PLIN5	Human	bisphenol F	increases expression	ISO	RGD:1557014	6480464	bisphenol F results in increased expression of PLIN5 mRNA	CTD	PMID:38685157
PLIN5	Human	bromobenzene	increases expression	ISO	RGD:1589602	6480464	bromobenzene results in increased expression of PLIN5 mRNA	CTD	PMID:32479839
PLIN5	Human	Butylbenzyl phthalate	multiple interactions	ISO	RGD:1557014	6480464	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with diisononyl phthalate co-treated with Dibutyl Phthalate co-treated more ...	CTD	PMID:39150890
PLIN5	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of PLIN5 mRNA	CTD	PMID:38568856
PLIN5	Human	cantharidin	decreases expression	ISO	RGD:1557014	6480464	Cantharidin results in decreased expression of PLIN5 mRNA	CTD	PMID:36907384
PLIN5	Human	carbon nanotube	decreases expression	ISO	RGD:1557014	6480464	Nanotubes, Carbon analog results in decreased expression of PLIN5 mRNA	CTD	PMID:25554681
PLIN5	Human	carbon nanotube	increases expression	ISO	RGD:1557014	6480464	Nanotubes, Carbon results in increased expression of PLIN5 mRNA	CTD	PMID:25620056
PLIN5	Human	clofibrate	increases expression	ISO	RGD:1557014	6480464	Clofibrate results in increased expression of PLIN5 mRNA	CTD	PMID:23811191
PLIN5	Human	clofibrate	increases expression	ISO	RGD:1589602	6480464	Clofibrate results in increased expression of PLIN5 mRNA	CTD	PMID:32741897
PLIN5	Human	copper(II) sulfate	increases expression	EXP		6480464	Copper Sulfate results in increased expression of PLIN5 mRNA	CTD	PMID:19549813
PLIN5	Human	crocidolite asbestos	decreases expression	EXP		6480464	Asbestos, Crocidolite results in decreased expression of PLIN5 mRNA	CTD	PMID:29523930
PLIN5	Human	cyclosporin A	decreases expression	ISO	RGD:1557014	6480464	Cyclosporine results in decreased expression of PLIN5 mRNA	CTD	PMID:19770486
PLIN5	Human	cyproconazole	decreases expression	ISO	RGD:1557014	6480464	cyproconazole results in decreased expression of PLIN5 mRNA	CTD	PMID:22334560
PLIN5	Human	dexamethasone	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] more ...	CTD	PMID:28628672
PLIN5	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of PLIN5 mRNA	CTD	PMID:37042841
PLIN5	Human	dibutyl phthalate	multiple interactions	ISO	RGD:1589602	6480464	[bisphenol A co-treated with Diethylhexyl Phthalate co-treated with Dibutyl Phthalate] affects the methylation of PLIN5 more ...	CTD	PMID:23359474
PLIN5	Human	dibutyl phthalate	multiple interactions	ISO	RGD:1557014	6480464	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with diisononyl phthalate co-treated with Dibutyl Phthalate co-treated more ...	CTD	PMID:39150890
PLIN5	Human	dichloroacetic acid	increases expression	ISO	RGD:1557014	6480464	Dichloroacetic Acid results in increased expression of PLIN5 mRNA	CTD	PMID:28962523
PLIN5	Human	dicrotophos	decreases expression	EXP		6480464	dicrotophos results in decreased expression of PLIN5 mRNA	CTD	PMID:28302478
PLIN5	Human	diethyl phthalate	multiple interactions	ISO	RGD:1557014	6480464	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with diisononyl phthalate co-treated with Dibutyl Phthalate co-treated more ...	CTD	PMID:39150890
PLIN5	Human	diisobutyl phthalate	multiple interactions	ISO	RGD:1557014	6480464	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with diisononyl phthalate co-treated with Dibutyl Phthalate co-treated more ...	CTD	PMID:39150890
PLIN5	Human	diisononyl phthalate	multiple interactions	ISO	RGD:1557014	6480464	[diethyl phthalate co-treated with Diethylhexyl Phthalate co-treated with diisononyl phthalate co-treated with Dibutyl Phthalate co-treated more ...	CTD	PMID:39150890
PLIN5	Human	diquat	increases expression	ISO	RGD:1557014	6480464	Diquat results in increased expression of PLIN5 mRNA	CTD	PMID:36851058
PLIN5	Human	endosulfan	decreases expression	ISO	RGD:1589602	6480464	Endosulfan results in decreased expression of PLIN5 mRNA	CTD	PMID:29391264
PLIN5	Human	epoxiconazole	decreases expression	ISO	RGD:1557014	6480464	epoxiconazole results in decreased expression of PLIN5 mRNA	CTD	PMID:22334560\|PMID:35436446
PLIN5	Human	fenofibrate	increases expression	ISO	RGD:1589602	6480464	Fenofibrate results in increased expression of PLIN5 mRNA	CTD	PMID:32741897
PLIN5	Human	genistein	decreases expression	ISO	RGD:1557014	6480464	Genistein results in decreased expression of PLIN5 mRNA	CTD	PMID:32186404
PLIN5	Human	hexadecanoic acid	multiple interactions	ISO	RGD:1589602	6480464	[Oleic Acid co-treated with Palmitic Acid] results in increased expression of PLIN5 mRNA; tetrabromobisphenol A more ...	CTD	PMID:25048947
PLIN5	Human	indometacin	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] more ...	CTD	PMID:28628672
PLIN5	Human	inulin	multiple interactions	ISO	RGD:1557014	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in decreased expression of PLIN5 mRNA	CTD	PMID:36331819
PLIN5	Human	lead diacetate	decreases expression	ISO	RGD:1557014	6480464	lead acetate results in decreased expression of PLIN5 mRNA	CTD	PMID:25270620
PLIN5	Human	Licochalcone B	increases expression	EXP		6480464	licochalcone B results in increased expression of PLIN5 mRNA	CTD	PMID:33647349
PLIN5	Human	Mesaconitine	decreases expression	ISO	RGD:1589602	6480464	mesaconitine results in decreased expression of PLIN5 protein	CTD	PMID:37182599
PLIN5	Human	methidathion	decreases expression	ISO	RGD:1557014	6480464	methidathion results in decreased expression of PLIN5 mRNA	CTD	PMID:34813904
PLIN5	Human	methylmercury chloride	increases expression	EXP		6480464	methylmercuric chloride results in increased expression of PLIN5 mRNA	CTD	PMID:28001369
PLIN5	Human	mono(2-ethylhexyl) phthalate	decreases expression	ISO	RGD:1557014	6480464	mono-(2-ethylhexyl)phthalate results in decreased expression of PLIN5 mRNA	CTD	PMID:22401849
PLIN5	Human	Muraglitazar	increases expression	ISO	RGD:1589602	6480464	muraglitazar results in increased expression of PLIN5 mRNA	CTD	PMID:21515302
PLIN5	Human	N-Nitrosopyrrolidine	decreases expression	EXP		6480464	N-Nitrosopyrrolidine results in decreased expression of PLIN5 mRNA	CTD	PMID:32234424
PLIN5	Human	nickel atom	decreases expression	EXP		6480464	Nickel results in decreased expression of PLIN5 mRNA	CTD	PMID:24768652
PLIN5	Human	okadaic acid	decreases expression	EXP		6480464	Okadaic Acid results in decreased expression of PLIN5 mRNA	CTD	PMID:38832940
PLIN5	Human	oleic acid	multiple interactions	ISO	RGD:1589602	6480464	[Oleic Acid co-treated with Palmitic Acid] results in increased expression of PLIN5 mRNA; tetrabromobisphenol A more ...	CTD	PMID:25048947
PLIN5	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of PLIN5 mRNA	CTD	PMID:21420995
PLIN5	Human	paracetamol	increases expression	ISO	RGD:1589602	6480464	Acetaminophen results in increased expression of PLIN5 mRNA	CTD	PMID:32479839
PLIN5	Human	perfluorohexanesulfonic acid	increases expression	ISO	RGD:1557014	6480464	perfluorohexanesulfonic acid results in increased expression of PLIN5 mRNA	CTD	PMID:39111555
PLIN5	Human	perfluorohexanesulfonic acid	multiple interactions	ISO	RGD:1557014	6480464	[2-chloro-5-nitrobenzanilide co-treated with perfluorohexanesulfonic acid] results in decreased expression of PLIN5 mRNA	CTD	PMID:39111555
PLIN5	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	RGD:1557014	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in decreased expression of PLIN5 mRNA; [perfluorooctane sulfonic more ...	CTD	PMID:36331819
PLIN5	Human	perfluorooctanoic acid	multiple interactions	ISO	RGD:1589602	6480464	[Zeranol co-treated with perfluorooctanoic acid] results in increased expression of PLIN5 mRNA	CTD	PMID:35163327
PLIN5	Human	perfluorooctanoic acid	increases expression	ISO	RGD:1589602	6480464	perfluorooctanoic acid results in increased expression of PLIN5 mRNA	CTD	PMID:28511854
PLIN5	Human	phenobarbital	affects expression	ISO	RGD:1557014	6480464	Phenobarbital affects the expression of PLIN5 mRNA	CTD	PMID:23091169
PLIN5	Human	pirinixic acid	multiple interactions	ISO	RGD:1557014	6480464	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in more ...	CTD	PMID:19710929
PLIN5	Human	pirinixic acid	increases expression	ISO	RGD:1589602	6480464	pirinixic acid results in increased expression of PLIN5 mRNA	CTD	PMID:32741897
PLIN5	Human	pirinixic acid	increases expression	ISO	RGD:1557014	6480464	pirinixic acid results in increased expression of PLIN5 mRNA	CTD	PMID:23811191
PLIN5	Human	pregnenolone 16alpha-carbonitrile	decreases expression	ISO	RGD:1557014	6480464	Pregnenolone Carbonitrile results in decreased expression of PLIN5 mRNA	CTD	PMID:38182912
PLIN5	Human	propiconazole	decreases expression	ISO	RGD:1557014	6480464	propiconazole results in decreased expression of PLIN5 mRNA	CTD	PMID:22334560
PLIN5	Human	sodium arsenite	decreases expression	ISO	RGD:1557014	6480464	sodium arsenite results in decreased expression of PLIN5 mRNA	CTD	PMID:25270620
PLIN5	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of PLIN5 mRNA	CTD	PMID:29301061
PLIN5	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of PLIN5 mRNA	CTD	PMID:38568856
PLIN5	Human	sulforaphane	increases expression	ISO	RGD:1557014	6480464	sulforaphane results in increased expression of PLIN5 mRNA	CTD	PMID:30529165
PLIN5	Human	sunitinib	increases expression	EXP		6480464	Sunitinib results in increased expression of PLIN5 mRNA	CTD	PMID:31533062
PLIN5	Human	tamoxifen	affects expression	ISO	RGD:1557014	6480464	Tamoxifen affects the expression of PLIN5 mRNA	CTD	PMID:20937368
PLIN5	Human	temozolomide	decreases expression	EXP		6480464	Temozolomide results in decreased expression of PLIN5 mRNA	CTD	PMID:31758290
PLIN5	Human	Tesaglitazar	increases expression	ISO	RGD:1589602	6480464	tesaglitazar results in increased expression of PLIN5 mRNA	CTD	PMID:21515302
PLIN5	Human	tetrachloromethane	increases expression	ISO	RGD:1557014	6480464	Carbon Tetrachloride results in increased expression of PLIN5 mRNA	CTD	PMID:31919559
PLIN5	Human	thioacetamide	decreases expression	ISO	RGD:1589602	6480464	Thioacetamide results in decreased expression of PLIN5 mRNA	CTD	PMID:34492290
PLIN5	Human	thiram	increases expression	EXP		6480464	Thiram results in increased expression of PLIN5 mRNA	CTD	PMID:38568856
PLIN5	Human	titanium dioxide	decreases expression	ISO	RGD:1557014	6480464	titanium dioxide results in decreased expression of PLIN5 mRNA	CTD	PMID:23557971
PLIN5	Human	trichloroethene	decreases expression	ISO	RGD:1589602	6480464	Trichloroethylene results in decreased expression of PLIN5 mRNA	CTD	PMID:33387578
PLIN5	Human	trichostatin A	affects expression	EXP		6480464	trichostatin A affects the expression of PLIN5 mRNA	CTD	PMID:28542535
PLIN5	Human	triclosan	decreases expression	EXP		6480464	Triclosan results in decreased expression of PLIN5 mRNA	CTD	PMID:30510588
PLIN5	Human	triphenyl phosphate	decreases expression	ISO	RGD:1589602	6480464	triphenyl phosphate results in decreased expression of PLIN5 mRNA	CTD	PMID:30589522
PLIN5	Human	triphenyl phosphate	multiple interactions	EXP		6480464	[Flame Retardants results in increased abundance of triphenyl phosphate] which results in decreased expression of more ...	CTD	PMID:39192017
PLIN5	Human	triphenyl phosphate	multiple interactions	ISO	RGD:1589602	6480464	[Flame Retardants results in increased abundance of triphenyl phosphate] which results in decreased expression of more ...	CTD	PMID:39192017
PLIN5	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of PLIN5 mRNA	CTD	PMID:37042841
PLIN5	Human	triptonide	increases expression	ISO	RGD:1557014	6480464	triptonide results in increased expression of PLIN5 mRNA	CTD	PMID:33045310
PLIN5	Human	troglitazone	increases expression	ISO	RGD:1589602	6480464	troglitazone results in increased expression of PLIN5 mRNA	CTD	PMID:21515302
PLIN5	Human	urethane	increases expression	EXP		6480464	Urethane results in increased expression of PLIN5 mRNA	CTD	PMID:28818685
PLIN5	Human	valproic acid	affects expression	ISO	RGD:1557014	6480464	Valproic Acid affects the expression of PLIN5 mRNA	CTD	PMID:17292431

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLIN5	Human	lipid droplet organization	involved_in	ISS	UniProtKB:Q8BVZ1	150520179		UniProt	GO_REF:0000024
PLIN5	Human	lipid droplet organization	involved_in	IEA	UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	lipid storage	involved_in	IEA	UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	lipid storage	involved_in	IBA	FB:FBgn0030608\|FB:FBgn0039114\|MGI:1914218\|MGI:87920\|PANTHER:PTN004450669\|UniProtKB:O60664\|UniProtKB:Q99541	150520179		GO_Central	GO_REF:0000033
PLIN5	Human	mitochondrion localization	involved_in	IEA	UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	negative regulation of fatty acid beta-oxidation	involved_in	ISS	UniProtKB:Q8BVZ1	150520179		UniProt	GO_REF:0000024
PLIN5	Human	negative regulation of fatty acid beta-oxidation	involved_in	IEA	UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	negative regulation of lipase activity	involved_in	ISS	UniProtKB:Q8BVZ1	150520179		UniProt	GO_REF:0000024
PLIN5	Human	negative regulation of lipid catabolic process	involved_in	IEA	UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	negative regulation of peroxisome proliferator activated receptor signaling pathway	involved_in	IEA	UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	negative regulation of peroxisome proliferator activated receptor signaling pathway	involved_in	ISS	UniProtKB:Q8BVZ1	150520179		UniProt	GO_REF:0000024
PLIN5	Human	negative regulation of reactive oxygen species metabolic process	involved_in	ISS	UniProtKB:Q8BVZ1	150520179		UniProt	GO_REF:0000024
PLIN5	Human	negative regulation of reactive oxygen species metabolic process	involved_in	IEA	UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	negative regulation of triglyceride catabolic process	involved_in	ISS	UniProtKB:Q8BVZ1	150520179		UniProt	GO_REF:0000024
PLIN5	Human	negative regulation of triglyceride catabolic process	involved_in	IEA	UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	positive regulation of fatty acid beta-oxidation	involved_in	IEA	UniProtKB:M0R7Z9\|UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808\|ensembl:ENSRNOP00000065588	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	positive regulation of fatty acid beta-oxidation	involved_in	ISS	UniProtKB:M0R7Z9\|UniProtKB:Q8BVZ1	150520179		UniProt	GO_REF:0000024
PLIN5	Human	positive regulation of lipase activity	involved_in	ISS	UniProtKB:M0R7Z9	150520179		UniProt	GO_REF:0000024
PLIN5	Human	positive regulation of lipid storage	involved_in	IEA	UniProtKB:M0R7Z9\|ensembl:ENSRNOP00000065588	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	positive regulation of lipid storage	involved_in	ISS	UniProtKB:M0R7Z9	150520179		UniProt	GO_REF:0000024
PLIN5	Human	positive regulation of triglyceride biosynthetic process	involved_in	IEA	UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	positive regulation of triglyceride biosynthetic process	involved_in	ISS	UniProtKB:Q8BVZ1	150520179		UniProt	GO_REF:0000024
PLIN5	Human	positive regulation of triglyceride storage	involved_in	IEA	UniProtKB:M0R7Z9\|UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808\|ensembl:ENSRNOP00000065588	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	positive regulation of triglyceride storage	involved_in	IBA	FB:FBgn0030608\|MGI:1914218\|PANTHER:PTN004450669\|RGD:1589602	150520179		GO_Central	GO_REF:0000033
PLIN5	Human	positive regulation of triglyceride storage	involved_in	ISS	UniProtKB:M0R7Z9\|UniProtKB:Q8BVZ1	150520179		UniProt	GO_REF:0000024

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLIN5	Human	cytoplasm	located_in	ISS	UniProtKB:Q8BVZ1	150520179		UniProt	GO_REF:0000024
PLIN5	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
PLIN5	Human	cytoplasm	located_in	IEA	UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
PLIN5	Human	cytosol	is_active_in	IBA	FB:FBgn0030608\|MGI:1914218\|MGI:87920\|PANTHER:PTN004450669\|UniProtKB:O60664	150520179		GO_Central	GO_REF:0000033
PLIN5	Human	cytosol	located_in	IEA	UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	lipid droplet	located_in	ISS	UniProtKB:Q8BVZ1	150520179		UniProt	GO_REF:0000024
PLIN5	Human	lipid droplet	part_of	IEA	UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	lipid droplet	located_in	IEA	UniProtKB:M0R7Z9\|ensembl:ENSRNOP00000065588	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	lipid droplet	located_in	IEA	ARBA:ARBA00029131	150520179		UniProt	GO_REF:0000117
PLIN5	Human	lipid droplet	located_in	IEA	UniProtKB-SubCell:SL-0154	150520179		UniProt	GO_REF:0000044
PLIN5	Human	lipid droplet	located_in	IDA		150520179		HPA	GO_REF:0000052
PLIN5	Human	lipid droplet	located_in	IEA	UniProtKB-KW:KW-0551	150520179		UniProt	GO_REF:0000043
PLIN5	Human	lipid droplet	is_active_in	IBA	FB:FBgn0030608\|FB:FBgn0039114\|MGI:87920\|PANTHER:PTN004450669\|RGD:1589602\|RGD:728889\|UniProtKB:O60664\|UniProtKB:Q00G26\|UniProtKB:Q99541\|ZFIN:ZDB-GENE-050913-12	150520179		GO_Central	GO_REF:0000033
PLIN5	Human	mitochondrion	located_in	IEA	UniProtKB-KW:KW-0496	150520179		UniProt	GO_REF:0000043
PLIN5	Human	mitochondrion	located_in	IEA	UniProtKB:M0R7Z9\|ensembl:ENSRNOP00000065588	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	mitochondrion	located_in	ISS	UniProtKB:M0R7Z9	150520179		UniProt	GO_REF:0000024
PLIN5	Human	mitochondrion	located_in	IEA	UniProtKB-SubCell:SL-0173	150520179		UniProt	GO_REF:0000044
PLIN5	Human	mitochondrion	NOT\|located_in	ISO	RGD:1589602	9068941	PMID:21885430	UniProt	PMID:21885430\|REF_RGD_ID:8553283

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLIN5	Human	identical protein binding	enables	IEA	UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	lipase binding	enables	IEA	UniProtKB:M0R7Z9\|UniProtKB:Q8BVZ1\|ensembl:ENSMUSP00000019808\|ensembl:ENSRNOP00000065588	150520179		Ensembl	GO_REF:0000107
PLIN5	Human	protein binding	enables	IPI	UniProtKB:Q8WTS1	150520179	PMID:32296183	IntAct	PMID:32296183

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PLIN5	Human	Primary amenorrhea		IAGP	RGD:14351609	8554872	ClinVar Annotator: match by term: Primary amenorrhea	ClinVar	PMID:21681106

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:12477932	PMID:17234449	PMID:19602560	PMID:19638644	PMID:19717842	PMID:21393244	PMID:21632259	PMID:21873635	PMID:22127648	PMID:22667335	PMID:23129790	PMID:24535284
PMID:25054327	PMID:26186194	PMID:26447519	PMID:27428080	PMID:27922115	PMID:28514442	PMID:29110300	PMID:29752569	PMID:30591149	PMID:31173228	PMID:32296183	PMID:33160079
PMID:33961781	PMID:35220055	PMID:35401929	PMID:36134829	PMID:37218505	PMID:37290445

PLIN5
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	4,522,531 - 4,535,224 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	4,522,531 - 4,535,224 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	4,522,543 - 4,535,236 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	4,473,543 - 4,486,208 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	4,461,329 - 4,473,994 (-)	NCBI		Celera
Cytogenetic Map	19	p13.3	NCBI
HuRef	19	4,284,194 - 4,296,925 (-)	NCBI		HuRef
CHM1_1	19	4,522,721 - 4,535,399 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	4,506,212 - 4,518,891 (-)	NCBI		T2T-CHM13v2.0

Plin5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	56,418,601 - 56,424,606 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	56,418,601 - 56,424,596 (-)	Ensembl		GRCm39 Ensembl
GRCm38	17	56,111,597 - 56,117,606 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	56,111,601 - 56,117,596 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	56,251,024 - 56,256,971 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	55,704,894 - 55,710,821 (-)	NCBI		MGSCv36	mm8
Celera	17	59,530,262 - 59,536,209 (-)	NCBI		Celera
Cytogenetic Map	17	D	NCBI
cM Map	17	29.16	NCBI

Plin5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	9	1,026,910 - 1,033,352 (-)	NCBI		GRCr8
mRatBN7.2	9	939,745 - 946,188 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	9	939,747 - 946,120 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	9	1,386,151 - 1,392,516 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	9	6,733,424 - 6,739,795 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	9	5,691,188 - 5,697,553 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	9	10,956,013 - 10,961,782 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	9	10,956,056 - 10,961,782 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	9	9,943,003 - 9,948,729 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	9	7,561,527 - 7,567,886 (+)	NCBI		Celera
Cytogenetic Map	9	q11	NCBI

Plin5
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955495	4,407,246 - 4,416,848 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955495	4,406,590 - 4,414,783 (+)	NCBI	ChiLan1.0	ChiLan1.0

PLIN5
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	20	8,917,017 - 8,929,816 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	8,146,807 - 8,159,602 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	3,542,675 - 3,555,611 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	4,496,475 - 4,502,936 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

PLIN5
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	55,181,171 - 55,189,369 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	55,181,198 - 55,189,366 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	54,909,690 - 54,917,493 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	55,839,605 - 55,847,423 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	55,839,463 - 55,847,422 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	54,901,592 - 54,909,392 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	55,382,123 - 55,389,929 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	55,580,396 - 55,588,202 (+)	NCBI		UU_Cfam_GSD_1.0

Plin5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	215,197,457 - 215,205,026 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936588	2,629,762 - 2,636,983 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936588	2,629,762 - 2,637,303 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PLIN5
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	74,300,619 - 74,314,315 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	74,304,613 - 74,314,314 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	74,797,979 - 74,806,072 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PLIN5
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	6	4,251,316 - 4,262,656 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	4,251,751 - 4,261,126 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666081	3,928,417 - 3,940,329 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Plin5
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624828	5,207,937 - 5,218,901 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624828	5,208,060 - 5,218,553 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in PLIN5
77 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.3(chr19:4417986-4721866)x1	copy number loss	See cases [RCV000051190]	Chr19:4417986..4721866 [GRCh38] Chr19:4417983..4721878 [GRCh37] Chr19:4368983..4672878 [NCBI36] Chr19:19p13.3	uncertain significance
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]\|See cases [RCV000052876]	Chr19:265917..8564134 [GRCh38] Chr19:265917..8629018 [GRCh37] Chr19:216917..8535018 [NCBI36] Chr19:19p13.3-13.2	pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	copy number gain	See cases [RCV000052879]	Chr19:1972245..9648879 [GRCh38] Chr19:1972244..9759555 [GRCh37] Chr19:1923244..9620555 [NCBI36] Chr19:19p13.3-13.2	pathogenic
GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	copy number gain	See cases [RCV000052880]	Chr19:4008560..4763159 [GRCh38] Chr19:4008558..4763171 [GRCh37] Chr19:3959558..4714171 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]\|See cases [RCV000052881]	Chr19:4039158..9176125 [GRCh38] Chr19:4039156..9286801 [GRCh37] Chr19:3990156..9147801 [NCBI36] Chr19:19p13.3-13.2	pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	copy number gain	See cases [RCV000052575]	Chr19:233565..4699472 [GRCh38] Chr19:233565..4699484 [GRCh37] Chr19:184565..4650484 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	copy number loss	See cases [RCV000053943]	Chr19:3554635..4690965 [GRCh38] Chr19:3554633..4690977 [GRCh37] Chr19:3505633..4641977 [NCBI36] Chr19:19p13.3	pathogenic
NM_052972.2(LRG1):c.1038C>T (p.Ser346=)	single nucleotide variant	Malignant melanoma [RCV000072141]	Chr19:4537946 [GRCh38] Chr19:4537958 [GRCh37] Chr19:4488958 [NCBI36] Chr19:19p13.3	not provided
GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	copy number gain	See cases [RCV000134164]	Chr19:3947934..5196676 [GRCh38] Chr19:3947932..5196687 [GRCh37] Chr19:3898932..5147687 [NCBI36] Chr19:19p13.3	pathogenic\|uncertain significance
GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	copy number loss	See cases [RCV000134482]	Chr19:3338024..4833139 [GRCh38] Chr19:3338022..4833151 [GRCh37] Chr19:3289022..4784151 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	copy number gain	See cases [RCV000142627]	Chr19:259395..6795611 [GRCh38] Chr19:259395..6795622 [GRCh37] Chr19:210395..6746622 [NCBI36] Chr19:19p13.3	pathogenic
GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	copy number loss	See cases [RCV000143614]	Chr19:3788727..5147354 [GRCh38] Chr19:3788725..5147365 [GRCh37] Chr19:3739725..5098365 [NCBI36] Chr19:19p13.3	likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
NM_001013706.3(PLIN5):c.677G>T (p.Arg226Leu)	single nucleotide variant	not specified [RCV004303741]	Chr19:4525676 [GRCh38] Chr19:4525688 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1042C>T (p.Arg348Trp)	single nucleotide variant	not specified [RCV004287899]	Chr19:4523878 [GRCh38] Chr19:4523890 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	copy number gain	not provided [RCV000684096]	Chr19:3120160..9732820 [GRCh37] Chr19:19p13.3-13.2	pathogenic
Single allele	duplication	Primary amenorrhea [RCV000754469]	Chr19:3718839..4604407 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_001013706.3(PLIN5):c.1163C>A (p.Pro388His)	single nucleotide variant	not specified [RCV004292990]	Chr19:4523757 [GRCh38] Chr19:4523769 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(4818389_?)dup	duplication	not provided [RCV003105391]	Chr19:589946..4818389 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:4182912-4633772)x3	copy number gain	not provided [RCV001833036]	Chr19:4182912..4633772 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1	copy number loss	not provided [RCV001834187]	Chr19:3501624..5357124 [GRCh37] Chr19:19p13.3	pathogenic
NM_001013706.3(PLIN5):c.112G>A (p.Ala38Thr)	single nucleotide variant	not specified [RCV004323816]	Chr19:4531771 [GRCh38] Chr19:4531783 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1051G>A (p.Val351Met)	single nucleotide variant	not specified [RCV004187181]	Chr19:4523869 [GRCh38] Chr19:4523881 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	copy number gain	See cases [RCV000137713]	Chr19:3080621..4912622 [GRCh38] Chr19:3080619..4912634 [GRCh37] Chr19:3031619..4863634 [NCBI36] Chr19:19p13.3	likely pathogenic
GRCh37/hg19 19p13.3(chr19:3076808-4796782)	copy number loss	not provided [RCV000767742]	Chr19:3076808..4796782 [GRCh37] Chr19:19p13.3	pathogenic
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	copy number gain	not provided [RCV000846988]	Chr19:260911..4788357 [GRCh37] Chr19:19p13.3	pathogenic
NM_001013706.3(PLIN5):c.104C>T (p.Thr35Met)	single nucleotide variant	not specified [RCV004289033]	Chr19:4531779 [GRCh38] Chr19:4531791 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_589946)_(5696788_?)dup	duplication	not provided [RCV003113597]	Chr19:589946..5696788 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1040G>A (p.Gly347Asp)	single nucleotide variant	not specified [RCV004228723]	Chr19:4523880 [GRCh38] Chr19:4523892 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1315G>A (p.Gly439Arg)	single nucleotide variant	not specified [RCV004209955]	Chr19:4523605 [GRCh38] Chr19:4523617 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1309G>T (p.Val437Phe)	single nucleotide variant	not specified [RCV004172750]	Chr19:4523611 [GRCh38] Chr19:4523623 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.218A>G (p.Asp73Gly)	single nucleotide variant	not specified [RCV004216165]	Chr19:4531665 [GRCh38] Chr19:4531677 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.959G>A (p.Arg320Gln)	single nucleotide variant	not specified [RCV004121962]	Chr19:4523961 [GRCh38] Chr19:4523973 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.190G>A (p.Val64Met)	single nucleotide variant	not specified [RCV004201815]	Chr19:4531693 [GRCh38] Chr19:4531705 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.410G>C (p.Arg137Pro)	single nucleotide variant	not specified [RCV004153539]	Chr19:4529183 [GRCh38] Chr19:4529195 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.928G>C (p.Ala310Pro)	single nucleotide variant	not specified [RCV004196812]	Chr19:4523992 [GRCh38] Chr19:4524004 [GRCh37] Chr19:19p13.3	likely benign
NM_001013706.3(PLIN5):c.278C>T (p.Ala93Val)	single nucleotide variant	not specified [RCV004087329]	Chr19:4529845 [GRCh38] Chr19:4529857 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.4T>A (p.Ser2Thr)	single nucleotide variant	not specified [RCV004101313]	Chr19:4534071 [GRCh38] Chr19:4534083 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.812C>T (p.Pro271Leu)	single nucleotide variant	not specified [RCV004076131]	Chr19:4524985 [GRCh38] Chr19:4524997 [GRCh37] Chr19:19p13.3	likely benign
NM_001013706.3(PLIN5):c.74G>A (p.Arg25His)	single nucleotide variant	not specified [RCV004238479]	Chr19:4531809 [GRCh38] Chr19:4531821 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.758C>T (p.Pro253Leu)	single nucleotide variant	not specified [RCV004221129]	Chr19:4525039 [GRCh38] Chr19:4525051 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.401G>A (p.Arg134Gln)	single nucleotide variant	not specified [RCV004216824]	Chr19:4529192 [GRCh38] Chr19:4529204 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.433C>T (p.Arg145Cys)	single nucleotide variant	not specified [RCV004078254]	Chr19:4529160 [GRCh38] Chr19:4529172 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.64G>A (p.Val22Met)	single nucleotide variant	not specified [RCV004215575]	Chr19:4531819 [GRCh38] Chr19:4531831 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.872C>T (p.Thr291Ile)	single nucleotide variant	not specified [RCV004263708]	Chr19:4524048 [GRCh38] Chr19:4524060 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.821G>A (p.Arg274His)	single nucleotide variant	not specified [RCV004349525]	Chr19:4524976 [GRCh38] Chr19:4524988 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.370A>G (p.Ser124Gly)	single nucleotide variant	not specified [RCV004347799]	Chr19:4529223 [GRCh38] Chr19:4529235 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.332C>T (p.Ser111Leu)	single nucleotide variant	not specified [RCV004334852]	Chr19:4529791 [GRCh38] Chr19:4529803 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.596T>C (p.Val199Ala)	single nucleotide variant	not specified [RCV004361257]	Chr19:4525757 [GRCh38] Chr19:4525769 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.917G>A (p.Arg306Gln)	single nucleotide variant	not specified [RCV004348059]	Chr19:4524003 [GRCh38] Chr19:4524015 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.805C>T (p.Arg269Cys)	single nucleotide variant	not specified [RCV004342276]	Chr19:4524992 [GRCh38] Chr19:4525004 [GRCh37] Chr19:19p13.3	likely benign
GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1	copy number loss	not specified [RCV003986118]	Chr19:3788725..4881494 [GRCh37] Chr19:19p13.3	uncertain significance
GRCh37/hg19 19p13.3(chr19:4337998-4809241)x1	copy number loss	not specified [RCV003986126]	Chr19:4337998..4809241 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1022C>T (p.Ala341Val)	single nucleotide variant	not specified [RCV004506623]	Chr19:4523898 [GRCh38] Chr19:4523910 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1046G>A (p.Gly349Asp)	single nucleotide variant	not specified [RCV004506624]	Chr19:4523874 [GRCh38] Chr19:4523886 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.121G>A (p.Asp41Asn)	single nucleotide variant	not specified [RCV004506627]	Chr19:4531762 [GRCh38] Chr19:4531774 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.164C>T (p.Ser55Phe)	single nucleotide variant	not specified [RCV004506629]	Chr19:4531719 [GRCh38] Chr19:4531731 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.223G>A (p.Ala75Thr)	single nucleotide variant	not specified [RCV004506630]	Chr19:4531660 [GRCh38] Chr19:4531672 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.944A>G (p.Lys315Arg)	single nucleotide variant	not specified [RCV004662218]	Chr19:4523976 [GRCh38] Chr19:4523988 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1216C>T (p.Arg406Cys)	single nucleotide variant	not specified [RCV004662215]	Chr19:4523704 [GRCh38] Chr19:4523716 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1289G>A (p.Gly430Glu)	single nucleotide variant	not specified [RCV004662217]	Chr19:4523631 [GRCh38] Chr19:4523643 [GRCh37] Chr19:19p13.3	uncertain significance
NC_000019.9:g.(?_3917720)_(4818389_?)dup	duplication	not provided [RCV004579723]	Chr19:3917720..4818389 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.340G>T (p.Val114Leu)	single nucleotide variant	not specified [RCV004662220]	Chr19:4529253 [GRCh38] Chr19:4529265 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1066G>T (p.Ala356Ser)	single nucleotide variant	not specified [RCV004662219]	Chr19:4523854 [GRCh38] Chr19:4523866 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.400C>T (p.Arg134Trp)	single nucleotide variant	not specified [RCV004837578]	Chr19:4529193 [GRCh38] Chr19:4529205 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.946G>A (p.Val316Met)	single nucleotide variant	not specified [RCV004837581]	Chr19:4523974 [GRCh38] Chr19:4523986 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.445C>G (p.His149Asp)	single nucleotide variant	not specified [RCV004837586]	Chr19:4529148 [GRCh38] Chr19:4529160 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.523G>C (p.Ala175Pro)	single nucleotide variant	not specified [RCV004837579]	Chr19:4525830 [GRCh38] Chr19:4525842 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.521C>T (p.Ala174Val)	single nucleotide variant	not specified [RCV004837582]	Chr19:4525832 [GRCh38] Chr19:4525844 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.962G>A (p.Arg321His)	single nucleotide variant	not specified [RCV004837583]	Chr19:4523958 [GRCh38] Chr19:4523970 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.425A>C (p.Glu142Ala)	single nucleotide variant	not specified [RCV004837587]	Chr19:4529168 [GRCh38] Chr19:4529180 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.640G>A (p.Glu214Lys)	single nucleotide variant	not specified [RCV004837590]	Chr19:4525713 [GRCh38] Chr19:4525725 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.892G>A (p.Val298Ile)	single nucleotide variant	not specified [RCV004837591]	Chr19:4524028 [GRCh38] Chr19:4524040 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.594T>G (p.Phe198Leu)	single nucleotide variant	not specified [RCV004837589]	Chr19:4525759 [GRCh38] Chr19:4525771 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1001G>A (p.Arg334His)	single nucleotide variant	not specified [RCV004209428]	Chr19:4523919 [GRCh38] Chr19:4523931 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.499C>G (p.Pro167Ala)	single nucleotide variant	not specified [RCV004215645]	Chr19:4529094 [GRCh38] Chr19:4529106 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.506C>T (p.Thr169Met)	single nucleotide variant	not specified [RCV004105452]	Chr19:4529087 [GRCh38] Chr19:4529099 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.824G>T (p.Arg275Leu)	single nucleotide variant	not specified [RCV004253237]	Chr19:4524973 [GRCh38] Chr19:4524985 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.928G>A (p.Ala310Thr)	single nucleotide variant	not specified [RCV004260780]	Chr19:4523992 [GRCh38] Chr19:4524004 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1337C>T (p.Pro446Leu)	single nucleotide variant	not specified [RCV004268131]	Chr19:4523583 [GRCh38] Chr19:4523595 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1355C>T (p.Pro452Leu)	single nucleotide variant	not provided [RCV004696378]\|not specified [RCV004261607]	Chr19:4523565 [GRCh38] Chr19:4523577 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1387T>C (p.Phe463Leu)	single nucleotide variant	not specified [RCV004346531]	Chr19:4523533 [GRCh38] Chr19:4523545 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1204G>T (p.Gly402Cys)	single nucleotide variant	not specified [RCV004343248]	Chr19:4523716 [GRCh38] Chr19:4523728 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.439G>A (p.Val147Met)	single nucleotide variant	not specified [RCV004339624]	Chr19:4529154 [GRCh38] Chr19:4529166 [GRCh37] Chr19:19p13.3	likely benign
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	copy number gain	not provided [RCV003485190]	Chr19:260912..7246777 [GRCh37] Chr19:19p13.3-13.2	pathogenic
NM_001013706.3(PLIN5):c.1378G>C (p.Glu460Gln)	single nucleotide variant	not specified [RCV004506628]	Chr19:4523542 [GRCh38] Chr19:4523554 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.863G>T (p.Arg288Leu)	single nucleotide variant	not specified [RCV004506636]	Chr19:4524057 [GRCh38] Chr19:4524069 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.897G>T (p.Glu299Asp)	single nucleotide variant	not specified [RCV004506637]	Chr19:4524023 [GRCh38] Chr19:4524035 [GRCh37] Chr19:19p13.3	likely benign
NM_001013706.3(PLIN5):c.359A>T (p.Asp120Val)	single nucleotide variant	not specified [RCV004506633]	Chr19:4529234 [GRCh38] Chr19:4529246 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1201G>A (p.Gly401Arg)	single nucleotide variant	not specified [RCV004506626]	Chr19:4523719 [GRCh38] Chr19:4523731 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.325C>A (p.Gln109Lys)	single nucleotide variant	not specified [RCV004506631]	Chr19:4529798 [GRCh38] Chr19:4529810 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1109C>T (p.Pro370Leu)	single nucleotide variant	not specified [RCV004506625]	Chr19:4523811 [GRCh38] Chr19:4523823 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.862C>T (p.Arg288Cys)	single nucleotide variant	not specified [RCV004506634]	Chr19:4524058 [GRCh38] Chr19:4524070 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.826C>T (p.Arg276Trp)	single nucleotide variant	not specified [RCV004651376]	Chr19:4524971 [GRCh38] Chr19:4524983 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.990C>G (p.Phe330Leu)	single nucleotide variant	not specified [RCV004651377]	Chr19:4523930 [GRCh38] Chr19:4523942 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.626G>A (p.Arg209His)	single nucleotide variant	not specified [RCV004651378]	Chr19:4525727 [GRCh38] Chr19:4525739 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.306G>T (p.Glu102Asp)	single nucleotide variant	not specified [RCV004651379]	Chr19:4529817 [GRCh38] Chr19:4529829 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.434G>C (p.Arg145Pro)	single nucleotide variant	not specified [RCV004651380]	Chr19:4529159 [GRCh38] Chr19:4529171 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.110C>T (p.Thr37Ile)	single nucleotide variant	not specified [RCV004651381]	Chr19:4531773 [GRCh38] Chr19:4531785 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.113C>T (p.Ala38Val)	single nucleotide variant	not specified [RCV004837577]	Chr19:4531770 [GRCh38] Chr19:4531782 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.1072G>A (p.Val358Met)	single nucleotide variant	not specified [RCV004837580]	Chr19:4523848 [GRCh38] Chr19:4523860 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.230C>T (p.Pro77Leu)	single nucleotide variant	not specified [RCV004837585]	Chr19:4531653 [GRCh38] Chr19:4531665 [GRCh37] Chr19:19p13.3	uncertain significance
NM_001013706.3(PLIN5):c.452T>C (p.Val151Ala)	single nucleotide variant	not specified [RCV004837588]	Chr19:4529141 [GRCh38] Chr19:4529153 [GRCh37] Chr19:19p13.3	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	2663
Count of miRNA genes:	982
Interacting mature miRNAs:	1193
Transcripts:	ENST00000381848, ENST00000586133, ENST00000588887, ENST00000589728, ENST00000590350, ENST00000592610
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1298499	UAE1_H	Urinary albumin excretion QTL 1 (human)	2.73	0.0009	Urinary albumin excretion	urine albumin:creatinine ratio (ACR)	19	1	16075902	Human
1643451	SLIPL6_H	Serum lipid level QTL 6 (human)	2.19	0.0008	Lipid level		19	1	16075902	Human
1581534	BP76_H	Blood pressure QTL 76 (human)	2	0.001	Blood pressure	pulse pressure	19	1	16075902	Human
1581535	BP65_H	Blood pressure QTL 65 (human)	3.1	0.001	Blood pressure	pulse pressure	19	1	16075902	Human
2314591	INSUL4_H	Insulin level QTL 4 (human)	3.8	0.000038	Insulin level	fasting	19	1	16075902	Human
1298476	BP3_H	Blood pressure QTL 3 (human)	2.4		Blood pressure	systolic	19	1	16075902	Human

RH91548

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	4,537,370 - 4,537,547	UniSTS	GRCh37
Build 36	19	4,488,370 - 4,488,547	RGD	NCBI36
Celera	19	4,476,156 - 4,476,333	RGD
Cytogenetic Map	19	p13.3	UniSTS
HuRef	19	4,299,087 - 4,299,264	UniSTS
GeneMap99-GB4 RH Map	19	32.22	UniSTS

RH80514

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	4,537,264 - 4,537,514	UniSTS	GRCh37
Build 36	19	4,488,264 - 4,488,514	RGD	NCBI36
Celera	19	4,476,050 - 4,476,300	RGD
Cytogenetic Map	19	p13.3	UniSTS
HuRef	19	4,298,981 - 4,299,231	UniSTS
GeneMap99-GB4 RH Map	19	31.92	UniSTS

RH48973

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	4,537,145 - 4,537,292	UniSTS	GRCh37
Build 36	19	4,488,145 - 4,488,292	RGD	NCBI36
Celera	19	4,475,931 - 4,476,078	RGD
Cytogenetic Map	19	p13.3	UniSTS
HuRef	19	4,298,862 - 4,299,009	UniSTS
GeneMap99-GB4 RH Map	19	32.33	UniSTS

RH41861

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	19	p13.3	UniSTS
HuRef	19	4,284,232 - 4,284,390	UniSTS
GeneMap99-GB4 RH Map	19	32.22	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2412	2788	2241	4897	1714	2295	4	619	1616	460	2220	6938	6136	39	3709	1	836	1711	1567	172	1


RefSeq Transcripts	NM_001013706	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC011498	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW445065	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC033570	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC131524	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX105717	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DQ839131	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000381848 ⟹ ENSP00000371272

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	4,522,531 - 4,535,224 (-)	Ensembl

Ensembl Acc Id:

ENST00000586133 ⟹ ENSP00000468027

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	4,533,249 - 4,535,224 (-)	Ensembl

Ensembl Acc Id:

ENST00000588887

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	4,529,410 - 4,535,224 (-)	Ensembl

Ensembl Acc Id:

ENST00000589728

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	4,523,909 - 4,525,849 (-)	Ensembl

Ensembl Acc Id:

ENST00000590350

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	4,529,278 - 4,535,185 (-)	Ensembl

Ensembl Acc Id:

ENST00000592610 ⟹ ENSP00000464926

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	4,532,372 - 4,534,274 (-)	Ensembl

RefSeq Acc Id:

NM_001013706 ⟹ NP_001013728

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	4,522,531 - 4,535,224 (-)	NCBI
GRCh37	19	4,522,543 - 4,535,208 (-)	RGD
Build 36	19	4,473,543 - 4,486,208 (-)	NCBI Archive
Celera	19	4,461,329 - 4,473,994 (-)	RGD
HuRef	19	4,284,194 - 4,296,925 (-)	ENTREZGENE
CHM1_1	19	4,522,721 - 4,535,399 (-)	NCBI
T2T-CHM13v2.0	19	4,506,212 - 4,518,891 (-)	NCBI

Sequence:

show sequence

GTGGAGACTCGAGCCTGGGGTCGGCGGAGACAGCTGGTGTCTGAAGCCGCTCGCGCCCAGGGTGACCCTGTTTGCAGCACGATGTCTGAAGAAGAGGCGGCTCAGATCCCCAGATCCAGTGTGTGGGA
GCAGGACCAGCAGAACGTGGTGCAGCGTGTGGTGGCTCTGCCCCTGGTCAGGGCCACGTGCACCGCGGTCTGCGATGTTTACAGTGCAGCCAAGGACAGGCACCCGCTGCTGGGCTCCGCCTGCCGCC
TGGCTGAGAACTGCGTGTGCGGCCTGACCACCCGTGCCCTGGACCACGCCCAGCCGCTGCTCGAGCACCTGCAGCCCCAGCTGGCCACTATGAACAGCCTCGCCTGCAGGGGCCTGGACAAGCTGGAA
GAGAAGCTTCCCTTTCTCCAGCAACCTTCGGAGACGGTGGTGACCTCAGCCAAGGACGTGGTGGCCAGCAGTGTCACGGGTGTGGTGGACCTGGCCCGGAGGGGCCGGCGCTGGAGCGTGGAGCTGAA
GCGCTCCGTGAGCCATGCTGTGGATGTTGTACTGGAAAAATCAGAGGAGCTGGTGGATCACTTCCTGCCCATGACGGAGGAAGAGCTCGCGGCACTGGCGGCTGAGGCTGAAGGCCCTGAAGTGGGTT
CGGTGGAGGATCAGAGGAGACAGCAGGGCTACTTTGTGCGCCTCGGCTCCCTGTCAGCACGGATCCGCCACCTGGCCTACGAGCACTCTGTGGGGAAACTGAGGCAGAGCAAACACCGTGCCCAGGAC
ACCCTGGCCCAGCTGCAGGAGACGCTGGAGCTGATAGACCACATGCAGTGTGGGGTGACCCCCACCGCCCCGGCCTGCCCTGGGAAGGTGCACGAGCTGTGGGGGGAATGGGGCCAGCGCCCTCCGGA
GAGCCGCCGCCGGAGCCAGGCAGAGCTGGAGACGCTGGTGCTGTCCCGCAGCCTGACCCAGGAGCTGCAGGGCACGGTAGAGGCTCTGGAGTCCAGCGTGCGGGGCCTGCCCGCCGGCGCCCAGGAGA
AGGTGGCTGAGGTGCGGCGCAGTGTGGATGCCCTGCAGACCGCCTTCGCTGATGCCCGCTGCTTCAGGGACGTGCCAGCGGCCGCGCTGGCCGAGGGCCGGGGTCGCGTGGCCCACGCGCACGCCTGC
GTGGACGAGCTGCTGGAGCTGGTGGTGCAGGCCGTGCCGCTGCCCTGGCTGGTGGGACCCTTCGCGCCCATCCTTGTGGAGCGACCCGAGCCCCTGCCCGACCTGGCGGACCTGGTGGACGAGGTCAT
CGGGGGCCCTGACCCCCGCTGGGCGCACCTGGACTGGCCGGCCCAGCAGAGAGCCTGGGAGGCAGAGCACAGGGACGGGAGTGGGAATGGGGATGGGGACAGGATGGGTGTTGCCGGGGACATCTGCG
AGCAGGAACCCGAGACCCCCAGCTGCCCGGTCAAGCACACCCTGATGCCCGAGCTGGACTTCTGACCCATGGGCCAGTGGAGGCGGGGAGGAAAGGCCACCTGCACACCCCGATCCCTGCTGCCCCCT
GGTGGCCACACGTAAGCTCGAGGCCTTGGCCTTGACCCTTCTTTGGAATCAGGCCCAACTCCGGATCTCTGACCACCTTTTTGGTATTGGACTCTCCCATTTTTTCCTTGAACACATGGACAAAGAGG
CCCGGGGGAGCAGGGCCTCGAACCCTATTCAGGCCAACTTGAGCCACAAGCTGGGTTCTTCACCTATGTCCTGCTCCCTGGCTCCATGAAGCGAATCCAAATCTTTCCAAGAGGCTGGGCACAGTGGC
TCACGCCTGTAATCCCAGCACTTTGGGAGTCTGAGGCAGGTGGATCATCTGAAGTCAGGAGTTCGGGATCATCCTGGCCAACATGATGAAACCCTGTCTCTACTTAGAAAGAAAGAAAAAAAAAAAAA
AAGCCAGGTGTGGTGGTGTGCACCTGTAGTCCCAGCTAGTTGTGAGGCTGACGCAGAAGAATTGCTTAAACCCGAGAGGCGCGGAGCTTGCAGTGAGCAGAGATCGCGCCACTGCACACCAGCCTGGG
TGACAGAGCGAGACTCCATCTAACAAAAAATAATAGTAACAGCCTCCCGAAGAAATACACATTTTGCCCAATGCCTTCTGTTTGGGGCTTTGAAAAGTGAGCCCTGACTGGGTGTGGTGGTTGACACC
TGTTATCACAGCACTTTGGGAGGCCAAGGTGGGAGGACTGCTTGAGCCCAGGAGTTGGAGGCTGCAGTGAGCCATGATCTTGCCCCTGCGCTCTCGCCTGGGTGACAGAGCAAGACTCTATCTCAAAA
ATGTTTTTAAAAAATACTTCCTAGGGAAACACACATTTTGCCCTATTTGGAACTTTGAAAAGTGAGCCCTCCTCTGCCCATGGGCCGTGCTGCTCAGCCTGCCATACTCGCTTGCTTTGCTGTTTGGG
ATTTGCCTCCAGAATAAAGGTCCTTTTTGTTGTTGAAA

hide sequence


Protein RefSeqs	NP_001013728	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI31525	(Get FASTA)	NCBI Sequence Viewer
	ABH07519	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000371272
	ENSP00000371272.2
GenBank Protein	Q00G26	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001013728 ⟸ NM_001013706

- UniProtKB:

A2RRC1 (UniProtKB/Swiss-Prot), Q6ZS68 (UniProtKB/Swiss-Prot), Q00G26 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MSEEEAAQIPRSSVWEQDQQNVVQRVVALPLVRATCTAVCDVYSAAKDRHPLLGSACRLAENCVCGLTTRALDHAQPLLEHLQPQLATMNSLACRGLDKLEEKLPFLQQPSETVVTSAKDVVASSVTG
VVDLARRGRRWSVELKRSVSHAVDVVLEKSEELVDHFLPMTEEELAALAAEAEGPEVGSVEDQRRQQGYFVRLGSLSARIRHLAYEHSVGKLRQSKHRAQDTLAQLQETLELIDHMQCGVTPTAPACP
GKVHELWGEWGQRPPESRRRSQAELETLVLSRSLTQELQGTVEALESSVRGLPAGAQEKVAEVRRSVDALQTAFADARCFRDVPAAALAEGRGRVAHAHACVDELLELVVQAVPLPWLVGPFAPILVE
RPEPLPDLADLVDEVIGGPDPRWAHLDWPAQQRAWEAEHRDGSGNGDGDRMGVAGDICEQEPETPSCPVKHTLMPELDF

hide sequence

Ensembl Acc Id:

ENSP00000468027 ⟸ ENST00000586133

Ensembl Acc Id:

ENSP00000371272 ⟸ ENST00000381848

Ensembl Acc Id:

ENSP00000464926 ⟸ ENST00000592610

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q00G26-F1-model_v2	AlphaFold	Q00G26	1-463	view protein structure

RGD ID:

6795911

Promoter ID:

HG_KWN:28586

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

NM_001013706

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	4,485,926 - 4,486,426 (-)	MPROMDB

RGD ID:

6795799

Promoter ID:

HG_KWN:28587

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000306390, UC002MAT.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	4,490,814 - 4,491,314 (-)	MPROMDB

RGD ID:

7238107

Promoter ID:

EPDNEW_H24799

Type:

initiation region

Name:

PLIN5_2

Description:

perilipin 5

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H24801

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	4,535,224 - 4,535,284	EPDNEW

RGD ID:

7238111

Promoter ID:

EPDNEW_H24801

Type:

initiation region

Name:

PLIN5_1

Description:

perilipin 5

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H24799

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	4,540,036 - 4,540,096	EPDNEW

Database	Acc Id	Source(s)
COSMIC	PLIN5	COSMIC
Ensembl Genes	ENSG00000214456	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000381848	ENTREZGENE
	ENST00000381848.7	UniProtKB/Swiss-Prot
Gene3D-CATH	Flagellar protein FliS	UniProtKB/Swiss-Prot
	Perilipin, alpha-beta domain	UniProtKB/Swiss-Prot
GTEx	ENSG00000214456	GTEx
HGNC ID	HGNC:33196	ENTREZGENE
Human Proteome Map	PLIN5	Human Proteome Map
InterPro	Perilipin	UniProtKB/Swiss-Prot
KEGG Report	hsa:440503	UniProtKB/Swiss-Prot
NCBI Gene	440503	ENTREZGENE
OMIM	613248	OMIM
PANTHER	PERILIPIN	UniProtKB/Swiss-Prot
	PERILIPIN-5	UniProtKB/Swiss-Prot
Pfam	Perilipin	UniProtKB/Swiss-Prot
PharmGKB	PA165394043	PharmGKB
PIRSF	PAT	UniProtKB/Swiss-Prot
Superfamily-SCOP	Mannose-6-phosphate receptor binding protein 1 (Tip47), C-terminal domain	UniProtKB/Swiss-Prot
UniProt	A2RRC1	ENTREZGENE
	K7EIX1_HUMAN	UniProtKB/TrEMBL
	PLIN5_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q6ZS68	ENTREZGENE
UniProt Secondary	A2RRC1	UniProtKB/Swiss-Prot
	Q6ZS68	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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