PLA2G5 (phospholipase A2 group V) - Rat Genome Database

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Gene: PLA2G5 (phospholipase A2 group V) Homo sapiens
Analyze
Symbol: PLA2G5
Name: phospholipase A2 group V
RGD ID: 735328
HGNC Page HGNC:9038
Description: Enables calcium-independent phospholipase A2 activity. Involved in several processes, including glycerophospholipid metabolic process; positive regulation of ERK1 and ERK2 cascade; and positive regulation of immune complex clearance by monocytes and macrophages. Predicted to be located in cell surface; early phagosome; and phagolysosome. Implicated in familial benign fleck retina.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Ca2+-dependent phospholipase A2; calcium-dependent phospholipase A2; DKFZp686C2294; FRFB; group V phospholipase A2; GV-PLA2; hVPLA(2); MGC46205; phosphatidylcholine 2-acylhydrolase 5; phospholipase A2, group V; PLA2-10
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38120,028,408 - 20,091,911 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl120,028,179 - 20,091,911 (+)EnsemblGRCh38hg38GRCh38
GRCh37120,396,687 - 20,418,404 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36120,269,288 - 20,290,981 (+)NCBINCBI36Build 36hg18NCBI36
Build 34120,142,143 - 20,162,959NCBI
Celera118,719,822 - 18,741,514 (+)NCBICelera
Cytogenetic Map1p36.13NCBI
HuRef118,642,531 - 18,664,224 (+)NCBIHuRef
CHM1_1120,506,410 - 20,528,103 (+)NCBICHM1_1
T2T-CHM13v2.0119,852,033 - 19,915,547 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (ISO)
ammonium chloride  (ISO)
arachidonic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benazepril  (ISO)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-D-glucosamine  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP)
CGP 52608  (EXP)
choline  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
Cuprizon  (ISO)
dibutyl phthalate  (ISO)
diiodine  (ISO)
doxorubicin  (EXP,ISO)
enzalutamide  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
gentamycin  (ISO)
glycidol  (ISO)
hydrogen peroxide  (EXP,ISO)
icosanoid  (ISO)
isoliquiritigenin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
leukotriene C4  (EXP,ISO)
lipopolysaccharide  (EXP)
methamphetamine  (EXP)
methapyrilene  (EXP)
N-formyl-L-methionyl-L-leucyl-L-phenylalanine  (EXP)
N-nitrosodiethylamine  (ISO)
naphthalene  (ISO)
paracetamol  (ISO)
PCB138  (ISO)
pentanal  (EXP)
peptidoglycan  (ISO)
piperonyl butoxide  (ISO)
progesterone  (ISO)
propanal  (EXP)
prostaglandin E2  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
sarin  (EXP)
silicon dioxide  (EXP)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8300559   PMID:8838795   PMID:8889548   PMID:9377118   PMID:9745929   PMID:9767110   PMID:10531350   PMID:10751642   PMID:10839997   PMID:10873151   PMID:11080676   PMID:11522612  
PMID:11741884   PMID:12124392   PMID:12423354   PMID:12477932   PMID:12796497   PMID:12963740   PMID:14702039   PMID:15259375   PMID:15377291   PMID:15489334   PMID:16040605   PMID:16115226  
PMID:16146426   PMID:16476735   PMID:16601231   PMID:16710414   PMID:16785555   PMID:16794232   PMID:17545304   PMID:19913121   PMID:20083228   PMID:20432503   PMID:20448053   PMID:20628086  
PMID:21873635   PMID:22041135   PMID:22137173   PMID:22837859   PMID:23533611   PMID:23650617   PMID:24042857   PMID:24495480   PMID:24563418   PMID:24959594   PMID:25069533   PMID:25132377  
PMID:25247183   PMID:25549071   PMID:26711221   PMID:26715269   PMID:28528433   PMID:31730773   PMID:33383652   PMID:33660365   PMID:33961781  


Genomics

Comparative Map Data
PLA2G5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38120,028,408 - 20,091,911 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl120,028,179 - 20,091,911 (+)EnsemblGRCh38hg38GRCh38
GRCh37120,396,687 - 20,418,404 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36120,269,288 - 20,290,981 (+)NCBINCBI36Build 36hg18NCBI36
Build 34120,142,143 - 20,162,959NCBI
Celera118,719,822 - 18,741,514 (+)NCBICelera
Cytogenetic Map1p36.13NCBI
HuRef118,642,531 - 18,664,224 (+)NCBIHuRef
CHM1_1120,506,410 - 20,528,103 (+)NCBICHM1_1
T2T-CHM13v2.0119,852,033 - 19,915,547 (+)NCBIT2T-CHM13v2.0
Pla2g5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394138,526,558 - 138,590,784 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4138,526,555 - 138,590,793 (-)EnsemblGRCm39 Ensembl
GRCm384138,799,247 - 138,863,562 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4138,799,244 - 138,863,482 (-)EnsemblGRCm38mm10GRCm38
MGSCv374138,355,162 - 138,419,384 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364138,071,333 - 138,091,286 (-)NCBIMGSCv36mm8
Celera4140,584,350 - 140,649,745 (-)NCBICelera
Cytogenetic Map4D3NCBI
cM Map470.57NCBI
Pla2g5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85156,324,628 - 156,393,065 (-)NCBIGRCr8
mRatBN7.25151,041,339 - 151,109,433 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5151,041,340 - 151,062,658 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5153,738,735 - 153,760,037 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05155,513,041 - 155,534,343 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05155,495,070 - 155,516,077 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05157,247,601 - 157,268,968 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5157,247,781 - 157,268,903 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05160,988,968 - 161,030,066 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45157,619,703 - 157,640,971 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15157,629,741 - 157,651,010 (-)NCBI
Celera5149,429,045 - 149,450,195 (-)NCBICelera
Cytogenetic Map5q36NCBI
Pla2g5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955452710,271 - 723,142 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955452662,281 - 721,507 (+)NCBIChiLan1.0ChiLan1.0
PLA2G5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21207,027,174 - 207,048,964 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11206,144,002 - 206,165,768 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0118,983,104 - 19,046,834 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1120,026,361 - 20,089,840 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl120,068,110 - 20,089,840 (+)Ensemblpanpan1.1panPan2
PLA2G5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1278,762,851 - 78,781,642 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl278,762,852 - 78,781,983 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha275,276,435 - 75,295,216 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0279,329,011 - 79,347,745 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl279,329,015 - 79,347,767 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1276,148,347 - 76,167,055 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0277,154,883 - 77,173,638 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0278,225,847 - 78,234,080 (-)NCBIUU_Cfam_GSD_1.0
Pla2g5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505840,307,140 - 40,326,035 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364746,131,884 - 6,150,819 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364746,131,915 - 6,150,810 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLA2G5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl678,302,062 - 78,376,220 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1678,365,697 - 78,376,383 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2672,541,431 - 72,565,649 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PLA2G5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120112,465,341 - 112,487,082 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl20112,464,033 - 112,487,089 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660333,696,670 - 3,719,131 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Pla2g5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247645,196,215 - 5,207,232 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247645,196,215 - 5,207,138 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLA2G5
106 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000929.3(PLA2G5):c.185G>A (p.Trp62Ter) single nucleotide variant Familial benign flecked retina [RCV000023077] Chr1:20086227 [GRCh38]
Chr1:20412720 [GRCh37]
Chr1:1p36.13		 pathogenic|affects
NM_000929.3(PLA2G5):c.383del (p.Gln128fs) deletion Familial benign flecked retina [RCV000023080] Chr1:20090658 [GRCh38]
Chr1:20417151 [GRCh37]
Chr1:1p36.13		 pathogenic|affects
NM_000929.3(PLA2G5):c.133G>T (p.Gly45Cys) single nucleotide variant Familial benign flecked retina [RCV000023076]|not provided [RCV001852007] Chr1:20086175 [GRCh38]
Chr1:20412668 [GRCh37]
Chr1:1p36.13		 pathogenic|affects|uncertain significance
NM_000929.3(PLA2G5):c.145G>A (p.Gly49Ser) single nucleotide variant Familial benign flecked retina [RCV000023078]|not provided [RCV001300264] Chr1:20086187 [GRCh38]
Chr1:20412680 [GRCh37]
Chr1:1p36.13		 pathogenic|affects|uncertain significance
NM_000929.3(PLA2G5):c.157C>T (p.Arg53Ter) single nucleotide variant Familial benign flecked retina [RCV000023079]|not provided [RCV001319735] Chr1:20086199 [GRCh38]
Chr1:20412692 [GRCh37]
Chr1:1p36.13		 pathogenic|affects|uncertain significance
GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1 copy number loss See cases [RCV000051146] Chr1:15385267..20980349 [GRCh38]
Chr1:15711763..21306842 [GRCh37]
Chr1:15584350..21179429 [NCBI36]
Chr1:1p36.21-36.12		 pathogenic
GRCh38/hg38 1p36.21-36.12(chr1:13110797-20670207)x3 copy number gain See cases [RCV000051797] Chr1:13110797..20670207 [GRCh38]
Chr1:13178269..20996700 [GRCh37]
Chr1:13100856..20869287 [NCBI36]
Chr1:1p36.21-36.12		 pathogenic
GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1 copy number loss See cases [RCV000053789] Chr1:18347821..22512894 [GRCh38]
Chr1:18674315..22839387 [GRCh37]
Chr1:18546902..22711974 [NCBI36]
Chr1:1p36.13-36.12		 pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1 copy number loss See cases [RCV000053760] Chr1:10556797..22557907 [GRCh38]
Chr1:10616854..22884400 [GRCh37]
Chr1:10539441..22756987 [NCBI36]
Chr1:1p36.22-36.12		 pathogenic
NM_000929.3(PLA2G5):c.342C>T (p.Leu114=) single nucleotide variant not provided [RCV001468890] Chr1:20090617 [GRCh38]
Chr1:20417110 [GRCh37]
Chr1:20289697 [NCBI36]
Chr1:1p36.13		 likely benign|not provided
GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1 copy number loss See cases [RCV000138079] Chr1:19548795..20935131 [GRCh38]
Chr1:19875289..21261624 [GRCh37]
Chr1:19747876..21134211 [NCBI36]
Chr1:1p36.13-36.12		 likely pathogenic|uncertain significance
GRCh38/hg38 1p36.13(chr1:19093306-20063342)x1 copy number loss See cases [RCV000053793] Chr1:19093306..20063342 [GRCh38]
Chr1:19419800..20389835 [GRCh37]
Chr1:19292387..20262422 [NCBI36]
Chr1:1p36.13		 pathogenic
GRCh37/hg19 1p36.13-36.12(chr1:19809419-20418333)x3 copy number gain See cases [RCV000239783] Chr1:19809419..20418333 [GRCh37]
Chr1:1p36.13-36.12		 uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11		 uncertain significance
chr1:17555508-24706269 complex variant complex Breast ductal adenocarcinoma [RCV000207266] Chr1:17555508..24706269 [GRCh37]
Chr1:1p36.13-36.11		 uncertain significance
GRCh37/hg19 1p36.13-36.12(chr1:20067124-22537862)x1 copy number loss See cases [RCV000447314] Chr1:20067124..22537862 [GRCh37]
Chr1:1p36.13-36.12		 pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_000929.3(PLA2G5):c.312T>C (p.His104=) single nucleotide variant Familial benign flecked retina [RCV000625306]|not provided [RCV000731909]|not specified [RCV001701414] Chr1:20090587 [GRCh38]
Chr1:20417080 [GRCh37]
Chr1:1p36.13		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000929.3(PLA2G5):c.280dup (p.Val94fs) duplication Late-onset retinal degeneration [RCV001003122] Chr1:20089882..20089883 [GRCh38]
Chr1:20416375..20416376 [GRCh37]
Chr1:1p36.13		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_000929.3(PLA2G5):c.41G>C (p.Ser14Thr) single nucleotide variant not provided [RCV001063744] Chr1:20086083 [GRCh38]
Chr1:20412576 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
GRCh37/hg19 1p36.13-36.12(chr1:20100416-20549013)x3 copy number gain not provided [RCV001005074] Chr1:20100416..20549013 [GRCh37]
Chr1:1p36.13-36.12		 uncertain significance
NM_000929.3(PLA2G5):c.307T>C (p.Cys103Arg) single nucleotide variant not provided [RCV001223343] Chr1:20090582 [GRCh38]
Chr1:20417075 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.16C>T (p.Pro6Ser) single nucleotide variant not provided [RCV001242243] Chr1:20084846 [GRCh38]
Chr1:20411339 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.218G>T (p.Arg73Leu) single nucleotide variant not provided [RCV001213092] Chr1:20089821 [GRCh38]
Chr1:20416314 [GRCh37]
Chr1:1p36.13		 uncertain significance
NC_000001.10:g.(?_19199339)_(22987879_?)dup duplication Autosomal recessive early-onset Parkinson disease 6 [RCV003113320]|Congenital disorder of glycosylation type Ir [RCV003113321]|Hyperprolinemia type 2 [RCV003107740] Chr1:19199339..22987879 [GRCh37]
Chr1:1p36.13-36.12		 uncertain significance
NM_000929.3(PLA2G5):c.347A>G (p.Tyr116Cys) single nucleotide variant not provided [RCV001238862] Chr1:20090622 [GRCh38]
Chr1:20417115 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.351_361del (p.Cys117_Asn121delinsTer) deletion not provided [RCV001238410] Chr1:20090626..20090636 [GRCh38]
Chr1:20417119..20417129 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.389A>T (p.Gln130Leu) single nucleotide variant not provided [RCV001244098] Chr1:20090664 [GRCh38]
Chr1:20417157 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.402C>A (p.Asn134Lys) single nucleotide variant not provided [RCV001064833] Chr1:20090677 [GRCh38]
Chr1:20417170 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1 copy number loss 1p36.1 deletion syndrome [RCV001614471] Chr1:16785250..23491592 [GRCh37]
Chr1:1p36.13-36.12		 pathogenic
NM_000929.3(PLA2G5):c.223GAG[1] (p.Glu76del) microsatellite not provided [RCV001048859] Chr1:20089825..20089827 [GRCh38]
Chr1:20416318..20416320 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.133G>A (p.Gly45Ser) single nucleotide variant not provided [RCV001050098] Chr1:20086175 [GRCh38]
Chr1:20412668 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.392A>G (p.Tyr131Cys) single nucleotide variant not provided [RCV001235226] Chr1:20090667 [GRCh38]
Chr1:20417160 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.368G>A (p.Arg123Gln) single nucleotide variant not provided [RCV001038499] Chr1:20090643 [GRCh38]
Chr1:20417136 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1 copy number loss not provided [RCV001259567] Chr1:17284906..21778495 [GRCh37]
Chr1:1p36.13-36.12		 pathogenic
GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1 copy number loss not provided [RCV001259568] Chr1:16041431..21295864 [GRCh37]
Chr1:1p36.21-36.12		 pathogenic
NM_000929.3(PLA2G5):c.62G>T (p.Gly21Val) single nucleotide variant not provided [RCV001316918] Chr1:20086104 [GRCh38]
Chr1:20412597 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.302C>T (p.Pro101Leu) single nucleotide variant not provided [RCV001350195] Chr1:20090577 [GRCh38]
Chr1:20417070 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.88G>A (p.Glu30Lys) single nucleotide variant not provided [RCV001373461] Chr1:20086130 [GRCh38]
Chr1:20412623 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.383A>C (p.Gln128Pro) single nucleotide variant not provided [RCV001312976] Chr1:20090658 [GRCh38]
Chr1:20417151 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.91A>G (p.Lys31Glu) single nucleotide variant not provided [RCV001371776] Chr1:20086133 [GRCh38]
Chr1:20412626 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.309C>A (p.Cys103Ter) single nucleotide variant not provided [RCV001368395] Chr1:20090584 [GRCh38]
Chr1:20417077 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.301C>T (p.Pro101Ser) single nucleotide variant not provided [RCV001295922] Chr1:20090576 [GRCh38]
Chr1:20417069 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.43G>A (p.Val15Met) single nucleotide variant not provided [RCV001351174] Chr1:20086085 [GRCh38]
Chr1:20412578 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.343G>T (p.Val115Phe) single nucleotide variant not provided [RCV001346185] Chr1:20090618 [GRCh38]
Chr1:20417111 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.245G>A (p.Arg82His) single nucleotide variant not provided [RCV001347264] Chr1:20089848 [GRCh38]
Chr1:20416341 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.256T>A (p.Tyr86Asn) single nucleotide variant not provided [RCV001295447] Chr1:20089859 [GRCh38]
Chr1:20416352 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.41G>A (p.Ser14Asn) single nucleotide variant not provided [RCV001373083] Chr1:20086083 [GRCh38]
Chr1:20412576 [GRCh37]
Chr1:1p36.13		 uncertain significance
NC_000001.10:g.(?_20208747)_(20503856_?)dup duplication not provided [RCV001372151] Chr1:20208747..20503856 [GRCh37]
Chr1:1p36.13-36.12		 uncertain significance
NM_000929.3(PLA2G5):c.301C>A (p.Pro101Thr) single nucleotide variant not provided [RCV001306783] Chr1:20090576 [GRCh38]
Chr1:20417069 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.123C>T (p.Tyr41=) single nucleotide variant not provided [RCV001392970] Chr1:20086165 [GRCh38]
Chr1:20412658 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.108C>T (p.Asn36=) single nucleotide variant not provided [RCV001490099] Chr1:20086150 [GRCh38]
Chr1:20412643 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.9C>T (p.Gly3=) single nucleotide variant not provided [RCV001514854]|not specified [RCV001529691] Chr1:20084839 [GRCh38]
Chr1:20411332 [GRCh37]
Chr1:1p36.13		 benign
NM_000929.3(PLA2G5):c.180C>T (p.Thr60=) single nucleotide variant not provided [RCV001444078] Chr1:20086222 [GRCh38]
Chr1:20412715 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.288C>T (p.Thr96=) single nucleotide variant not provided [RCV001444226] Chr1:20089891 [GRCh38]
Chr1:20416384 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.390A>G (p.Gln130=) single nucleotide variant not provided [RCV001415987] Chr1:20090665 [GRCh38]
Chr1:20417158 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.15C>G (p.Leu5=) single nucleotide variant not provided [RCV001427208] Chr1:20084845 [GRCh38]
Chr1:20411338 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.297C>T (p.Pro99=) single nucleotide variant not provided [RCV001452056] Chr1:20090572 [GRCh38]
Chr1:20417065 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.185+3G>A single nucleotide variant not provided [RCV001522102] Chr1:20086230 [GRCh38]
Chr1:20412723 [GRCh37]
Chr1:1p36.13		 benign
NM_000929.3(PLA2G5):c.292+19G>A single nucleotide variant not provided [RCV001516602] Chr1:20089914 [GRCh38]
Chr1:20416407 [GRCh37]
Chr1:1p36.13		 benign
NM_000929.3(PLA2G5):c.144C>T (p.Cys48=) single nucleotide variant not provided [RCV001510631] Chr1:20086186 [GRCh38]
Chr1:20412679 [GRCh37]
Chr1:1p36.13		 benign
NM_000929.3(PLA2G5):c.225G>A (p.Glu75=) single nucleotide variant not provided [RCV001461120] Chr1:20089828 [GRCh38]
Chr1:20416321 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.217C>T (p.Arg73Trp) single nucleotide variant not provided [RCV001894992] Chr1:20089820 [GRCh38]
Chr1:20416313 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.230A>G (p.Lys77Arg) single nucleotide variant not provided [RCV001967058] Chr1:20089833 [GRCh38]
Chr1:20416326 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.102G>T (p.Gly34=) single nucleotide variant not provided [RCV001890766] Chr1:20086144 [GRCh38]
Chr1:20412637 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.311A>C (p.His104Pro) single nucleotide variant not provided [RCV001948400] Chr1:20090586 [GRCh38]
Chr1:20417079 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.334C>T (p.Arg112Trp) single nucleotide variant not provided [RCV001983640] Chr1:20090609 [GRCh38]
Chr1:20417102 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.326C>T (p.Ala109Val) single nucleotide variant not provided [RCV001986190] Chr1:20090601 [GRCh38]
Chr1:20417094 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.124G>A (p.Gly42Ser) single nucleotide variant not provided [RCV002023710] Chr1:20086166 [GRCh38]
Chr1:20412659 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.110C>G (p.Ala37Gly) single nucleotide variant not provided [RCV002021469] Chr1:20086152 [GRCh38]
Chr1:20412645 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.259A>C (p.Lys87Gln) single nucleotide variant not provided [RCV001966056] Chr1:20089862 [GRCh38]
Chr1:20416355 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.229_231del (p.Lys77del) deletion not provided [RCV002000813] Chr1:20089830..20089832 [GRCh38]
Chr1:20416323..20416325 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.142T>G (p.Cys48Gly) single nucleotide variant not provided [RCV002016573] Chr1:20086184 [GRCh38]
Chr1:20412677 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.295C>T (p.Pro99Ser) single nucleotide variant not provided [RCV001991785] Chr1:20090570 [GRCh38]
Chr1:20417063 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.58G>A (p.Gly20Arg) single nucleotide variant not provided [RCV002010441] Chr1:20086100 [GRCh38]
Chr1:20412593 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.367C>T (p.Arg123Trp) single nucleotide variant not provided [RCV001995065] Chr1:20090642 [GRCh38]
Chr1:20417135 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.400A>C (p.Asn134His) single nucleotide variant not provided [RCV001995294] Chr1:20090675 [GRCh38]
Chr1:20417168 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.17C>T (p.Pro6Leu) single nucleotide variant not provided [RCV001996412] Chr1:20084847 [GRCh38]
Chr1:20411340 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.407T>C (p.Leu136Pro) single nucleotide variant not provided [RCV002049598] Chr1:20090682 [GRCh38]
Chr1:20417175 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.86T>C (p.Ile29Thr) single nucleotide variant not provided [RCV001903016] Chr1:20086128 [GRCh38]
Chr1:20412621 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.292+6G>T single nucleotide variant not provided [RCV002035732] Chr1:20089901 [GRCh38]
Chr1:20416394 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.343G>C (p.Val115Leu) single nucleotide variant not provided [RCV001880816]|not specified [RCV004041109] Chr1:20090618 [GRCh38]
Chr1:20417111 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.292G>A (p.Glu98Lys) single nucleotide variant not provided [RCV002010067] Chr1:20089895 [GRCh38]
Chr1:20416388 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.382C>T (p.Gln128Ter) single nucleotide variant not provided [RCV001975428] Chr1:20090657 [GRCh38]
Chr1:20417150 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.186-6G>A single nucleotide variant not provided [RCV002168184] Chr1:20089783 [GRCh38]
Chr1:20416276 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.141C>T (p.Tyr47=) single nucleotide variant not provided [RCV002147195] Chr1:20086183 [GRCh38]
Chr1:20412676 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.153C>T (p.Gly51=) single nucleotide variant not provided [RCV002077449] Chr1:20086195 [GRCh38]
Chr1:20412688 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.185+11C>T single nucleotide variant not provided [RCV002151044] Chr1:20086238 [GRCh38]
Chr1:20412731 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.40+16G>A single nucleotide variant not provided [RCV002133923] Chr1:20084886 [GRCh38]
Chr1:20411379 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.321C>G (p.Leu107=) single nucleotide variant not provided [RCV002107431] Chr1:20090596 [GRCh38]
Chr1:20417089 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.293-10C>G single nucleotide variant not provided [RCV002183974] Chr1:20090558 [GRCh38]
Chr1:20417051 [GRCh37]
Chr1:1p36.13		 likely benign
NC_000001.10:g.(?_19199339)_(24690861_?)dup duplication Deficiency of hydroxymethylglutaryl-CoA lyase [RCV003122155] Chr1:19199339..24690861 [GRCh37]
Chr1:1p36.13-36.11		 uncertain significance
NM_000929.3(PLA2G5):c.317del (p.Asn106fs) deletion not provided [RCV002993513] Chr1:20090591 [GRCh38]
Chr1:20417084 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.298G>A (p.Gly100Arg) single nucleotide variant not provided [RCV003777846]|not specified [RCV004142129] Chr1:20090573 [GRCh38]
Chr1:20417066 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.188G>A (p.Cys63Tyr) single nucleotide variant not provided [RCV002995250] Chr1:20089791 [GRCh38]
Chr1:20416284 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.371G>A (p.Ser124Asn) single nucleotide variant not provided [RCV003017011] Chr1:20090646 [GRCh38]
Chr1:20417139 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.70G>T (p.Asp24Tyr) single nucleotide variant not provided [RCV002755731] Chr1:20086112 [GRCh38]
Chr1:20412605 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.212A>G (p.Tyr71Cys) single nucleotide variant not provided [RCV002616906] Chr1:20089815 [GRCh38]
Chr1:20416308 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.402C>T (p.Asn134=) single nucleotide variant not provided [RCV002947499] Chr1:20090677 [GRCh38]
Chr1:20417170 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.399del (p.Asn134fs) deletion not provided [RCV002591004] Chr1:20090672 [GRCh38]
Chr1:20417165 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.185+12G>A single nucleotide variant not provided [RCV002570202] Chr1:20086239 [GRCh38]
Chr1:20412732 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.416A>G (p.Ter139Trp) single nucleotide variant not provided [RCV003035431] Chr1:20090691 [GRCh38]
Chr1:20417184 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.185+7T>G single nucleotide variant not provided [RCV002999945] Chr1:20086234 [GRCh38]
Chr1:20412727 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.158G>A (p.Arg53Gln) single nucleotide variant not provided [RCV003002108] Chr1:20086200 [GRCh38]
Chr1:20412693 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.181G>A (p.Asp61Asn) single nucleotide variant not provided [RCV002664151] Chr1:20086223 [GRCh38]
Chr1:20412716 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.48T>C (p.Pro16=) single nucleotide variant not provided [RCV002741845] Chr1:20086090 [GRCh38]
Chr1:20412583 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.105dup (p.Asn36fs) duplication not provided [RCV002825755] Chr1:20086146..20086147 [GRCh38]
Chr1:20412639..20412640 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.41-7C>T single nucleotide variant not provided [RCV003040545] Chr1:20086076 [GRCh38]
Chr1:20412569 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.293-9C>T single nucleotide variant not provided [RCV003025196] Chr1:20090559 [GRCh38]
Chr1:20417052 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.292+18C>T single nucleotide variant not provided [RCV002574193] Chr1:20089913 [GRCh38]
Chr1:20416406 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.154G>A (p.Gly52Ser) single nucleotide variant not provided [RCV002596669] Chr1:20086196 [GRCh38]
Chr1:20412689 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.356A>G (p.Lys119Arg) single nucleotide variant not provided [RCV002580581]|not specified [RCV004064485] Chr1:20090631 [GRCh38]
Chr1:20417124 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.155G>A (p.Gly52Asp) single nucleotide variant not provided [RCV003046356] Chr1:20086197 [GRCh38]
Chr1:20412690 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.327C>G (p.Ala109=) single nucleotide variant not provided [RCV002899590] Chr1:20090602 [GRCh38]
Chr1:20417095 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.40+20C>T single nucleotide variant not provided [RCV003047043] Chr1:20084890 [GRCh38]
Chr1:20411383 [GRCh37]
Chr1:1p36.13		 likely benign
NC_000001.10:g.4481271_20530242del deletion Chromosome 1p36 deletion syndrome [RCV003159574] Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4 copy number gain not provided [RCV003485339] Chr1:17291707..23016395 [GRCh37]
Chr1:1p36.13-36.12		 likely pathogenic
NM_000929.3(PLA2G5):c.276G>A (p.Trp92Ter) single nucleotide variant not provided [RCV003828676] Chr1:20089879 [GRCh38]
Chr1:20416372 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.273G>A (p.Ala91=) single nucleotide variant not provided [RCV003545370] Chr1:20089876 [GRCh38]
Chr1:20416369 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.173A>G (p.Asp58Gly) single nucleotide variant not provided [RCV003695979] Chr1:20086215 [GRCh38]
Chr1:20412708 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.343G>A (p.Val115Ile) single nucleotide variant not provided [RCV003813824] Chr1:20090618 [GRCh38]
Chr1:20417111 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.8_9delinsCT (p.Gly3Ala) indel not provided [RCV003700586] Chr1:20084838..20084839 [GRCh38]
Chr1:20411331..20411332 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.249A>C (p.Thr83=) single nucleotide variant not provided [RCV003861334] Chr1:20089852 [GRCh38]
Chr1:20416345 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.186-19A>C single nucleotide variant not provided [RCV003853873] Chr1:20089770 [GRCh38]
Chr1:20416263 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.199C>T (p.His67Tyr) single nucleotide variant not provided [RCV003683338] Chr1:20089802 [GRCh38]
Chr1:20416295 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.47C>T (p.Pro16Leu) single nucleotide variant not provided [RCV003677567] Chr1:20086089 [GRCh38]
Chr1:20412582 [GRCh37]
Chr1:1p36.13		 uncertain significance
NM_000929.3(PLA2G5):c.292+13C>T single nucleotide variant not provided [RCV003843044] Chr1:20089908 [GRCh38]
Chr1:20416401 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.132C>T (p.Tyr44=) single nucleotide variant not provided [RCV003872233] Chr1:20086174 [GRCh38]
Chr1:20412667 [GRCh37]
Chr1:1p36.13		 likely benign
NM_000929.3(PLA2G5):c.280G>C (p.Val94Leu) single nucleotide variant not provided [RCV003731394] Chr1:20089883 [GRCh38]
Chr1:20416376 [GRCh37]
Chr1:1p36.13		 uncertain significance
NC_000001.11:g.20089789del deletion not provided [RCV003684913] Chr1:20089788 [GRCh38]
Chr1:20416281 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1 copy number loss not specified [RCV003986551] Chr1:16194137..20561434 [GRCh37]
Chr1:1p36.21-36.12		 pathogenic
NM_000929.3(PLA2G5):c.61G>C (p.Gly21Arg) single nucleotide variant not provided [RCV003708399] Chr1:20086103 [GRCh38]
Chr1:20412596 [GRCh37]
Chr1:1p36.13		 uncertain significance
GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2 copy number loss not provided [RCV004577440] Chr1:4436802..22782007 [GRCh37]
Chr1:1p36.32-36.12		 pathogenic
NC_000001.10:g.(?_20411324)_(20417185_?)dup duplication not provided [RCV004579070] Chr1:20411324..20417185 [GRCh37]
Chr1:1p36.12		 uncertain significance
NM_000929.3(PLA2G5):c.335G>T (p.Arg112Leu) single nucleotide variant not specified [RCV004661985] Chr1:20090610 [GRCh38]
Chr1:20417103 [GRCh37]
Chr1:1p36.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1889
Count of miRNA genes:790
Interacting mature miRNAs:929
Transcripts:ENST00000375108, ENST00000460175, ENST00000465698, ENST00000469069, ENST00000478803, ENST00000486277, ENST00000489871, ENST00000498348
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407165365GWAS814341_Hphospholipase A2, membrane associated measurement QTL GWAS814341 (human)2e-14phospholipase A2, membrane associated measurement12006382920063830Human
407370038GWAS1019014_Hacute myeloid leukemia QTL GWAS1019014 (human)2e-08acute myeloid leukemia12008483920084840Human
407041092GWAS690068_Hlinoleic acid measurement QTL GWAS690068 (human)0.0000003linoleic acid measurementblood free fatty acids level (CMO:0000117)12005308220053083Human
407262721GWAS911697_Hphospholipase A2, membrane associated measurement QTL GWAS911697 (human)3e-18phospholipase A2, membrane associated measurement12008304720083048Human
407262718GWAS911694_Hphospholipase A2, membrane associated measurement QTL GWAS911694 (human)9e-41phospholipase A2, membrane associated measurement12003983720039838Human
406965339GWAS614315_Hsevere acute respiratory syndrome, COVID-19 QTL GWAS614315 (human)0.000006severe acute respiratory syndrome, COVID-1912006890820068909Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human
406951279GWAS600255_Hphospholipase A2, membrane associated measurement QTL GWAS600255 (human)3e-33phospholipase A2, membrane associated measurement12008743720087438Human

Markers in Region
D1S1402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,409,555 - 20,409,735UniSTSGRCh37
Build 36120,282,142 - 20,282,322RGDNCBI36
Celera118,732,675 - 18,732,855RGD
Cytogenetic Map1p36-p34UniSTS
HuRef118,655,385 - 18,655,565UniSTS
G67476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,396,754 - 20,397,034UniSTSGRCh37
Build 36120,269,341 - 20,269,621RGDNCBI36
Celera118,719,875 - 18,720,155RGD
Cytogenetic Map1p36-p34UniSTS
HuRef118,642,584 - 18,642,864UniSTS
G67477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,411,159 - 20,411,441UniSTSGRCh37
Build 36120,283,746 - 20,284,028RGDNCBI36
Celera118,734,279 - 18,734,561RGD
Cytogenetic Map1p36-p34UniSTS
HuRef118,656,989 - 18,657,271UniSTS
G67478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,412,485 - 20,412,870UniSTSGRCh37
Build 36120,285,072 - 20,285,457RGDNCBI36
Celera118,735,605 - 18,735,990RGD
Cytogenetic Map1p36-p34UniSTS
HuRef118,658,315 - 18,658,700UniSTS
G67479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,416,176 - 20,416,468UniSTSGRCh37
Build 36120,288,763 - 20,289,055RGDNCBI36
Celera118,739,296 - 18,739,588RGD
Cytogenetic Map1p36-p34UniSTS
HuRef118,662,006 - 18,662,298UniSTS
D1S2402  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,417,250 - 20,417,593UniSTSGRCh37
Build 36120,289,837 - 20,290,180RGDNCBI36
Celera118,740,370 - 18,740,713RGD
Cytogenetic Map1p36-p34UniSTS
HuRef118,663,080 - 18,663,423UniSTS
GeneMap99-GB4 RH Map172.75UniSTS
Whitehead-RH Map166.5UniSTS
NCBI RH Map1110.0UniSTS
SHGC-74306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37120,417,505 - 20,417,626UniSTSGRCh37
Build 36120,290,092 - 20,290,213RGDNCBI36
Celera118,740,625 - 18,740,746RGD
Cytogenetic Map1p36-p34UniSTS
HuRef118,663,335 - 18,663,456UniSTS
TNG Radiation Hybrid Map17656.0UniSTS
GeneMap99-GB4 RH Map172.75UniSTS
NCBI RH Map1110.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2319 2780 2230 4716 1663 2113 3 603 1282 442 2120 6409 5792 10 3613 729 1593 1403 163 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054337092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK097693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL645485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AV709457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY524778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM684907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM705479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U03090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000375108   ⟹   ENSP00000364249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl120,070,194 - 20,091,911 (+)Ensembl
Ensembl Acc Id: ENST00000460175
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl120,028,434 - 20,086,227 (+)Ensembl
Ensembl Acc Id: ENST00000465698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl120,028,430 - 20,091,158 (+)Ensembl
Ensembl Acc Id: ENST00000469069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl120,028,526 - 20,089,895 (+)Ensembl
Ensembl Acc Id: ENST00000478803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl120,070,295 - 20,090,828 (+)Ensembl
Ensembl Acc Id: ENST00000486277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl120,028,179 - 20,091,190 (+)Ensembl
Ensembl Acc Id: ENST00000489871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl120,028,526 - 20,090,780 (+)Ensembl
Ensembl Acc Id: ENST00000498348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl120,028,571 - 20,070,414 (+)Ensembl
RefSeq Acc Id: NM_000929   ⟹   NP_000920
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,070,194 - 20,091,911 (+)NCBI
GRCh37120,386,157 - 20,418,394 (+)NCBI
Build 36120,269,288 - 20,290,981 (+)NCBI Archive
HuRef118,642,531 - 18,664,224 (+)ENTREZGENE
CHM1_1120,506,410 - 20,528,103 (+)NCBI
T2T-CHM13v2.0119,893,835 - 19,915,547 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005245891   ⟹   XP_005245948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
GRCh37120,386,157 - 20,418,394 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005245892   ⟹   XP_005245949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
GRCh37120,386,157 - 20,418,394 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005245893   ⟹   XP_005245950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
GRCh37120,386,157 - 20,418,394 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541586   ⟹   XP_011539888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541587   ⟹   XP_011539889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541588   ⟹   XP_011539890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541589   ⟹   XP_011539891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541590   ⟹   XP_011539892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541591   ⟹   XP_011539893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541592   ⟹   XP_011539894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047422608   ⟹   XP_047278564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
RefSeq Acc Id: XM_047422616   ⟹   XP_047278572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
RefSeq Acc Id: XM_047422635   ⟹   XP_047278591
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
RefSeq Acc Id: XM_047422637   ⟹   XP_047278593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
RefSeq Acc Id: XM_047422643   ⟹   XP_047278599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
RefSeq Acc Id: XM_047422645   ⟹   XP_047278601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38120,028,408 - 20,091,911 (+)NCBI
RefSeq Acc Id: XM_054337083   ⟹   XP_054193058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,852,034 - 19,915,547 (+)NCBI
RefSeq Acc Id: XM_054337084   ⟹   XP_054193059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,852,034 - 19,915,547 (+)NCBI
RefSeq Acc Id: XM_054337085   ⟹   XP_054193060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,852,034 - 19,915,547 (+)NCBI
RefSeq Acc Id: XM_054337086   ⟹   XP_054193061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,852,036 - 19,915,547 (+)NCBI
RefSeq Acc Id: XM_054337087   ⟹   XP_054193062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,852,033 - 19,915,547 (+)NCBI
RefSeq Acc Id: XM_054337088   ⟹   XP_054193063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,852,033 - 19,915,547 (+)NCBI
RefSeq Acc Id: XM_054337089   ⟹   XP_054193064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,852,033 - 19,915,547 (+)NCBI
RefSeq Acc Id: XM_054337090   ⟹   XP_054193065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,852,033 - 19,915,547 (+)NCBI
RefSeq Acc Id: XM_054337091   ⟹   XP_054193066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,852,033 - 19,915,547 (+)NCBI
RefSeq Acc Id: XM_054337092   ⟹   XP_054193067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0119,852,033 - 19,915,547 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000920 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245948 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245949 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245950 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539888 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539889 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539890 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539891 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539892 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539893 (Get FASTA)   NCBI Sequence Viewer  
  XP_011539894 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278564 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278572 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278591 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278593 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278599 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278601 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193058 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193059 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193060 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193061 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193062 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193063 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193064 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193065 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193066 (Get FASTA)   NCBI Sequence Viewer  
  XP_054193067 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC28886 (Get FASTA)   NCBI Sequence Viewer  
  AAH36792 (Get FASTA)   NCBI Sequence Viewer  
  AAR92480 (Get FASTA)   NCBI Sequence Viewer  
  BAG53516 (Get FASTA)   NCBI Sequence Viewer  
  EAW94911 (Get FASTA)   NCBI Sequence Viewer  
  EAW94912 (Get FASTA)   NCBI Sequence Viewer  
  EAW94913 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000364249
  ENSP00000364249.3
GenBank Protein P39877 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000920   ⟸   NM_000929
- Peptide Label: precursor
- UniProtKB: Q8N435 (UniProtKB/Swiss-Prot),   P39877 (UniProtKB/Swiss-Prot),   B3KUQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005245949   ⟸   XM_005245892
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005245948   ⟸   XM_005245891
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005245950   ⟸   XM_005245893
- Peptide Label: isoform X2
- UniProtKB: Q8N435 (UniProtKB/Swiss-Prot),   P39877 (UniProtKB/Swiss-Prot),   B3KUQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539891   ⟸   XM_011541589
- Peptide Label: isoform X2
- UniProtKB: Q8N435 (UniProtKB/Swiss-Prot),   P39877 (UniProtKB/Swiss-Prot),   B3KUQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539889   ⟸   XM_011541587
- Peptide Label: isoform X2
- UniProtKB: Q8N435 (UniProtKB/Swiss-Prot),   P39877 (UniProtKB/Swiss-Prot),   B3KUQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539890   ⟸   XM_011541588
- Peptide Label: isoform X2
- UniProtKB: Q8N435 (UniProtKB/Swiss-Prot),   P39877 (UniProtKB/Swiss-Prot),   B3KUQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539892   ⟸   XM_011541590
- Peptide Label: isoform X2
- UniProtKB: Q8N435 (UniProtKB/Swiss-Prot),   P39877 (UniProtKB/Swiss-Prot),   B3KUQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539893   ⟸   XM_011541591
- Peptide Label: isoform X2
- UniProtKB: Q8N435 (UniProtKB/Swiss-Prot),   P39877 (UniProtKB/Swiss-Prot),   B3KUQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539894   ⟸   XM_011541592
- Peptide Label: isoform X2
- UniProtKB: Q8N435 (UniProtKB/Swiss-Prot),   P39877 (UniProtKB/Swiss-Prot),   B3KUQ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011539888   ⟸   XM_011541586
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000364249   ⟸   ENST00000375108
RefSeq Acc Id: XP_047278564   ⟸   XM_047422608
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047278572   ⟸   XM_047422616
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047278601   ⟸   XM_047422645
- Peptide Label: isoform X2
- UniProtKB: P39877 (UniProtKB/Swiss-Prot),   Q8N435 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047278591   ⟸   XM_047422635
- Peptide Label: isoform X2
- UniProtKB: P39877 (UniProtKB/Swiss-Prot),   Q8N435 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047278593   ⟸   XM_047422637
- Peptide Label: isoform X2
- UniProtKB: P39877 (UniProtKB/Swiss-Prot),   Q8N435 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047278599   ⟸   XM_047422643
- Peptide Label: isoform X2
- UniProtKB: P39877 (UniProtKB/Swiss-Prot),   Q8N435 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193064   ⟸   XM_054337089
- Peptide Label: isoform X2
- UniProtKB: P39877 (UniProtKB/Swiss-Prot),   Q8N435 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193062   ⟸   XM_054337087
- Peptide Label: isoform X2
- UniProtKB: P39877 (UniProtKB/Swiss-Prot),   Q8N435 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193063   ⟸   XM_054337088
- Peptide Label: isoform X2
- UniProtKB: P39877 (UniProtKB/Swiss-Prot),   Q8N435 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193065   ⟸   XM_054337090
- Peptide Label: isoform X2
- UniProtKB: P39877 (UniProtKB/Swiss-Prot),   Q8N435 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193066   ⟸   XM_054337091
- Peptide Label: isoform X2
- UniProtKB: P39877 (UniProtKB/Swiss-Prot),   Q8N435 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193067   ⟸   XM_054337092
- Peptide Label: isoform X2
- UniProtKB: P39877 (UniProtKB/Swiss-Prot),   Q8N435 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054193059   ⟸   XM_054337084
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054193058   ⟸   XM_054337083
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054193060   ⟸   XM_054337085
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054193061   ⟸   XM_054337086
- Peptide Label: isoform X2
- UniProtKB: P39877 (UniProtKB/Swiss-Prot),   Q8N435 (UniProtKB/Swiss-Prot)
Protein Domains
Phospholipase A2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P39877-F1-model_v2 AlphaFold P39877 1-138 view protein structure

Promoters
RGD ID:6854358
Promoter ID:EPDNEW_H343
Type:initiation region
Name:PLA2G5_1
Description:phospholipase A2 group V
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
GRCh38120,070,194 - 20,070,254EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9038 AgrOrtholog
COSMIC PLA2G5 COSMIC
Ensembl Genes ENSG00000127472 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000375108 ENTREZGENE
  ENST00000375108.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000127472 GTEx
HGNC ID HGNC:9038 ENTREZGENE
Human Proteome Map PLA2G5 Human Proteome Map
InterPro PLipase_A2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLipase_A2_Asp_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLipase_A2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLipase_A2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLipase_A2_His_AS UniProtKB/Swiss-Prot
KEGG Report hsa:5322 UniProtKB/Swiss-Prot
NCBI Gene 5322 ENTREZGENE
OMIM 601192 OMIM
PANTHER PHOSPHOLIPASE A2 FAMILY MEMBER UniProtKB/TrEMBL
  PHOSPHOLIPASE A2 GROUP V UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11716 UniProtKB/Swiss-Prot
Pfam Phospholip_A2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33366 PharmGKB
PRINTS PHPHLIPASEA2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PA2_ASP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PA2_HIS UniProtKB/Swiss-Prot
  PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
SMART PA2c UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Phospholipase A2, PLA2 UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt B3KUQ4 ENTREZGENE, UniProtKB/TrEMBL
  P39877 ENTREZGENE, UniProtKB/Swiss-Prot
  Q8N435 ENTREZGENE
UniProt Secondary Q8N435 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 PLA2G5  phospholipase A2 group V  PLA2G5  phospholipase A2, group V  Symbol and/or name change 5135510 APPROVED