PLBD1 (phospholipase B domain containing 1) - Rat Genome Database

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Gene: PLBD1 (phospholipase B domain containing 1) Homo sapiens
Analyze
Symbol: PLBD1
Name: phospholipase B domain containing 1
RGD ID: 1605619
HGNC Page HGNC:26215
Description: Predicted to enable phospholipase activity. Predicted to be involved in phospholipid catabolic process. Located in extracellular space.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ22662; LAMA-like protein 1; lamina ancestor homolog 1; phospholipase B domain-containing protein 1; phospholipase B-like 1; PLB homolog 1; putative phospholipase B-like 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381214,503,661 - 14,567,883 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1214,503,661 - 14,567,883 (-)EnsemblGRCh38hg38GRCh38
GRCh371214,656,595 - 14,720,817 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361214,547,864 - 14,612,058 (-)NCBINCBI36Build 36hg18NCBI36
Celera1219,801,692 - 19,865,899 (-)NCBICelera
Cytogenetic Map12p13.1NCBI
HuRef1214,425,733 - 14,490,024 (-)NCBIHuRef
CHM1_11214,621,583 - 14,685,851 (-)NCBICHM1_1
T2T-CHM13v2.01214,381,172 - 14,445,388 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (ISO)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
clofibrate  (ISO)
clothianidin  (EXP)
cyproconazole  (ISO)
dibutyl phthalate  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
folic acid  (ISO)
gefitinib  (EXP)
genistein  (ISO)
indole-3-methanol  (ISO)
inulin  (ISO)
ivermectin  (EXP)
L-ethionine  (ISO)
lidocaine  (ISO)
menadione  (EXP)
methapyrilene  (ISO)
methylmercury chloride  (EXP)
monosodium L-glutamate  (ISO)
Muraglitazar  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nefazodone  (ISO)
nimesulide  (ISO)
nitrofen  (ISO)
omeprazole  (ISO)
ozone  (EXP,ISO)
panobinostat  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
rac-lactic acid  (EXP)
SB 431542  (EXP)
sodium arsenate  (EXP)
sodium fluoride  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8125298   PMID:12477932   PMID:15193148   PMID:19019078   PMID:21674799   PMID:21832049   PMID:21873635   PMID:22952603   PMID:24667918   PMID:25645918   PMID:26186194   PMID:28514442  
PMID:29987050   PMID:30021884   PMID:31756302   PMID:32235678   PMID:33961781  


Genomics

Comparative Map Data
PLBD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381214,503,661 - 14,567,883 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1214,503,661 - 14,567,883 (-)EnsemblGRCh38hg38GRCh38
GRCh371214,656,595 - 14,720,817 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361214,547,864 - 14,612,058 (-)NCBINCBI36Build 36hg18NCBI36
Celera1219,801,692 - 19,865,899 (-)NCBICelera
Cytogenetic Map12p13.1NCBI
HuRef1214,425,733 - 14,490,024 (-)NCBIHuRef
CHM1_11214,621,583 - 14,685,851 (-)NCBICHM1_1
T2T-CHM13v2.01214,381,172 - 14,445,388 (-)NCBIT2T-CHM13v2.0
Plbd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396136,589,069 - 136,639,301 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl6136,589,068 - 136,638,926 (-)EnsemblGRCm39 Ensembl
GRCm386136,612,071 - 136,662,303 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6136,612,070 - 136,661,928 (-)EnsemblGRCm38mm10GRCm38
MGSCv376136,560,592 - 136,610,414 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv366136,576,267 - 136,626,012 (-)NCBIMGSCv36mm8
Celera6139,609,300 - 139,657,957 (-)NCBICelera
Cytogenetic Map6G1NCBI
cM Map666.59NCBI
Plbd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84171,204,198 - 171,260,488 (-)NCBIGRCr8
mRatBN7.24169,472,983 - 169,529,277 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4169,472,983 - 169,529,277 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4175,768,317 - 175,824,754 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04171,549,440 - 171,605,726 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04170,173,961 - 170,230,404 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04170,564,387 - 170,620,681 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4170,564,367 - 170,620,703 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04234,823,110 - 234,879,736 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44173,611,465 - 173,667,759 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14173,856,588 - 173,912,883 (-)NCBI
Celera4158,056,782 - 158,113,069 (-)NCBICelera
Cytogenetic Map4q43NCBI
Plbd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541311,266,696 - 11,326,055 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541311,266,589 - 11,326,565 (-)NCBIChiLan1.0ChiLan1.0
PLBD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21019,954,390 - 20,018,571 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11219,951,150 - 20,015,331 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01214,509,377 - 14,573,087 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11214,905,980 - 14,970,004 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1214,905,980 - 14,969,902 (-)Ensemblpanpan1.1panPan2
PLBD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12732,031,073 - 32,081,910 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2732,030,824 - 32,081,918 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2714,367,131 - 14,417,748 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02732,338,338 - 32,390,483 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2732,337,820 - 32,390,387 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12732,227,208 - 32,279,318 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02732,185,940 - 32,237,948 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02714,098,538 - 14,149,153 (-)NCBIUU_Cfam_GSD_1.0
Plbd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494593,141,422 - 93,190,991 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365872,869,006 - 2,918,511 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365872,869,059 - 2,918,628 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLBD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl557,948,779 - 58,022,058 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1557,950,872 - 58,022,059 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2561,337,117 - 61,373,382 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PLBD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11114,397,766 - 14,468,292 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1114,397,877 - 14,468,125 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606920,843,944 - 20,913,707 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Plbd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475223,422,716 - 23,468,087 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475223,408,510 - 23,468,477 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PLBD1
21 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22		 pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1 copy number loss See cases [RCV000052780] Chr12:12388842..15540422 [GRCh38]
Chr12:12541776..15693356 [GRCh37]
Chr12:12433043..15584623 [NCBI36]
Chr12:12p13.2-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1 copy number loss See cases [RCV000135331] Chr12:12363649..15280588 [GRCh38]
Chr12:12514722..15433522 [GRCh37]
Chr12:12405989..15324789 [NCBI36]
Chr12:12p13.2-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 copy number gain See cases [RCV000137694] Chr12:2871741..14987348 [GRCh38]
Chr12:2980907..15140282 [GRCh37]
Chr12:2851168..15031549 [NCBI36]
Chr12:12p13.33-12.3		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3 copy number gain See cases [RCV000141905] Chr12:1258274..20657577 [GRCh38]
Chr12:1367440..20810511 [GRCh37]
Chr12:1237701..20701778 [NCBI36]
Chr12:12p13.33-12.2		 pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1		 pathogenic
GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1 copy number loss See cases [RCV000142882] Chr12:11121039..15908154 [GRCh38]
Chr12:11273638..16061088 [GRCh37]
Chr12:11164905..15952355 [NCBI36]
Chr12:12p13.2-12.3		 likely pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
chr12:10074776-18800953 complex variant complex Breast ductal adenocarcinoma [RCV000207105] Chr12:10074776..18800953 [GRCh37]
Chr12:12p13.31-12.3		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1 copy number loss not provided [RCV002292878] Chr12:10853887..24103810 [GRCh37]
Chr12:12p13.2-12.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-12.2(chr12:173786-20026080)x3 copy number gain See cases [RCV000446050] Chr12:173786..20026080 [GRCh37]
Chr12:12p13.33-12.2		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.1-12.3(chr12:14269084-14855982)x1 copy number loss See cases [RCV000512065] Chr12:14269084..14855982 [GRCh37]
Chr12:12p13.1-12.3		 likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1		 likely pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22		 pathogenic
NM_024829.6(PLBD1):c.496A>G (p.Met166Val) single nucleotide variant Inborn genetic diseases [RCV003241185] Chr12:14540826 [GRCh38]
Chr12:14693760 [GRCh37]
Chr12:12p13.1		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21		 pathogenic
GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420) copy number gain not provided [RCV000767817] Chr12:189216..15001420 [GRCh37]
Chr12:12p13.33-12.3		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3 copy number gain not provided [RCV000847209] Chr12:173786..34496628 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1 copy number loss not provided [RCV001006482] Chr12:11737824..16780886 [GRCh37]
Chr12:12p13.2-12.3		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865) copy number gain not specified [RCV002052955] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1		 pathogenic
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301) copy number gain not specified [RCV002052958] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11		 pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837) copy number gain not specified [RCV002052957] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NC_000012.11:g.(?_11803062)_(15835885_?)dup duplication Intellectual disability, autosomal dominant 6 [RCV001931714]|not provided [RCV001946435] Chr12:11803062..15835885 [GRCh37]
Chr12:12p13.2-12.3		 uncertain significance|no classifications from unflagged records
NM_024829.6(PLBD1):c.233G>A (p.Gly78Asp) single nucleotide variant Inborn genetic diseases [RCV003257396] Chr12:14553295 [GRCh38]
Chr12:14706229 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_024829.6(PLBD1):c.344A>G (p.Asn115Ser) single nucleotide variant Inborn genetic diseases [RCV002997154] Chr12:14542283 [GRCh38]
Chr12:14695217 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_024829.6(PLBD1):c.857C>G (p.Ser286Cys) single nucleotide variant Inborn genetic diseases [RCV002688185] Chr12:14511699 [GRCh38]
Chr12:14664633 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_024829.6(PLBD1):c.1364G>A (p.Arg455Gln) single nucleotide variant Inborn genetic diseases [RCV002992583] Chr12:14506941 [GRCh38]
Chr12:14659875 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_024829.6(PLBD1):c.1205A>G (p.Asn402Ser) single nucleotide variant Inborn genetic diseases [RCV002734739] Chr12:14507100 [GRCh38]
Chr12:14660034 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_024829.6(PLBD1):c.688G>A (p.Ala230Thr) single nucleotide variant Inborn genetic diseases [RCV002817663] Chr12:14536581 [GRCh38]
Chr12:14689515 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_024829.6(PLBD1):c.233G>C (p.Gly78Ala) single nucleotide variant Inborn genetic diseases [RCV002990817] Chr12:14553295 [GRCh38]
Chr12:14706229 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_024829.6(PLBD1):c.698A>G (p.Lys233Arg) single nucleotide variant Inborn genetic diseases [RCV002916624] Chr12:14536571 [GRCh38]
Chr12:14689505 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_024829.6(PLBD1):c.1562G>A (p.Arg521His) single nucleotide variant Inborn genetic diseases [RCV002742711] Chr12:14503872 [GRCh38]
Chr12:14656806 [GRCh37]
Chr12:12p13.1		 likely benign
NM_024829.6(PLBD1):c.175G>A (p.Val59Ile) single nucleotide variant Inborn genetic diseases [RCV002789014] Chr12:14553353 [GRCh38]
Chr12:14706287 [GRCh37]
Chr12:12p13.1		 likely benign
NM_024829.6(PLBD1):c.1319A>G (p.Asp440Gly) single nucleotide variant Inborn genetic diseases [RCV002748604] Chr12:14506986 [GRCh38]
Chr12:14659920 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_024829.6(PLBD1):c.1316G>A (p.Arg439His) single nucleotide variant Inborn genetic diseases [RCV002648827] Chr12:14506989 [GRCh38]
Chr12:14659923 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_024829.6(PLBD1):c.979C>T (p.Arg327Cys) single nucleotide variant Inborn genetic diseases [RCV002669302] Chr12:14511577 [GRCh38]
Chr12:14664511 [GRCh37]
Chr12:12p13.1		 uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4 copy number gain Pallister-Killian syndrome [RCV003154827] Chr12:176047..34179852 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_024829.6(PLBD1):c.661A>G (p.Lys221Glu) single nucleotide variant Inborn genetic diseases [RCV003205289] Chr12:14536608 [GRCh38]
Chr12:14689542 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_024829.6(PLBD1):c.139T>G (p.Trp47Gly) single nucleotide variant Inborn genetic diseases [RCV003178772] Chr12:14553389 [GRCh38]
Chr12:14706323 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_024829.6(PLBD1):c.1111A>G (p.Lys371Glu) single nucleotide variant Inborn genetic diseases [RCV003265653] Chr12:14511335 [GRCh38]
Chr12:14664269 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_024829.6(PLBD1):c.1267G>A (p.Gly423Ser) single nucleotide variant Inborn genetic diseases [RCV003351788] Chr12:14507038 [GRCh38]
Chr12:14659972 [GRCh37]
Chr12:12p13.1		 uncertain significance
NM_024829.6(PLBD1):c.1517A>T (p.Tyr506Phe) single nucleotide variant Inborn genetic diseases [RCV003363712] Chr12:14503917 [GRCh38]
Chr12:14656851 [GRCh37]
Chr12:12p13.1		 uncertain significance
Single allele duplication not provided [RCV003448692] Chr12:188053..34856694 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
NM_024829.6(PLBD1):c.1313G>A (p.Arg438Gln) single nucleotide variant not provided [RCV003390183] Chr12:14506992 [GRCh38]
Chr12:14659926 [GRCh37]
Chr12:12p13.1		 likely benign
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3 copy number gain not specified [RCV003986979] Chr12:173786..34835641 [GRCh37]
Chr12:12p13.33-11.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:625
Count of miRNA genes:463
Interacting mature miRNAs:496
Transcripts:ENST00000240617, ENST00000540572, ENST00000541618, ENST00000541800
Prediction methods: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.

Markers in Region
SHGC-33769  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,658,069 - 14,658,197UniSTSGRCh37
Build 361214,549,336 - 14,549,464RGDNCBI36
Celera1219,803,164 - 19,803,292RGD
Cytogenetic Map12p13.1UniSTS
HuRef1214,427,200 - 14,427,328UniSTS
TNG Radiation Hybrid Map126199.0UniSTS
Stanford-G3 RH Map12776.0UniSTS
GeneMap99-GB4 RH Map1266.01UniSTS
Whitehead-RH Map12134.9UniSTS
NCBI RH Map12175.9UniSTS
GeneMap99-G3 RH Map12776.0UniSTS
G59698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,656,691 - 14,656,803UniSTSGRCh37
Build 361214,547,958 - 14,548,070RGDNCBI36
Celera1219,801,786 - 19,801,898RGD
Cytogenetic Map12p13.1UniSTS
HuRef1214,425,822 - 14,425,934UniSTS
TNG Radiation Hybrid Map126178.0UniSTS
G62280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,717,946 - 14,718,038UniSTSGRCh37
Build 361214,609,213 - 14,609,305RGDNCBI36
Celera1219,863,054 - 19,863,146RGD
Cytogenetic Map12p13.1UniSTS
HuRef1214,487,179 - 14,487,271UniSTS
RH46549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,656,687 - 14,656,849UniSTSGRCh37
Build 361214,547,954 - 14,548,116RGDNCBI36
Celera1219,801,782 - 19,801,944RGD
Cytogenetic Map12p13.1UniSTS
HuRef1214,425,818 - 14,425,980UniSTS
GeneMap99-GB4 RH Map1251.04UniSTS
RH44723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371214,658,180 - 14,658,323UniSTSGRCh37
Build 361214,549,447 - 14,549,590RGDNCBI36
Celera1219,803,275 - 19,803,418RGD
Cytogenetic Map12p13.1UniSTS
HuRef1214,427,311 - 14,427,454UniSTS
GeneMap99-GB4 RH Map1251.04UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 45 46 1
Medium 1738 2039 653 172 1287 67 2797 803 572 345 1102 1281 115 1177 1331 4
Low 681 894 1049 438 382 385 1517 1351 2669 58 330 265 54 27 1457
Below cutoff 5 3 13 9 131 9 29 18 445 8 13 39 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000240617   ⟹   ENSP00000240617
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1214,503,661 - 14,567,883 (-)Ensembl
RefSeq Acc Id: ENST00000540572   ⟹   ENSP00000438367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1214,536,694 - 14,554,246 (-)Ensembl
RefSeq Acc Id: ENST00000541618   ⟹   ENSP00000441278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1214,511,511 - 14,567,728 (-)Ensembl
RefSeq Acc Id: ENST00000541800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1214,511,260 - 14,536,125 (-)Ensembl
RefSeq Acc Id: NM_024829   ⟹   NP_079105
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,503,661 - 14,567,883 (-)NCBI
GRCh371214,656,597 - 14,720,791 (-)RGD
Build 361214,547,864 - 14,612,058 (-)NCBI Archive
Celera1219,801,692 - 19,865,899 (-)RGD
HuRef1214,425,733 - 14,490,024 (-)RGD
CHM1_11214,621,583 - 14,685,851 (-)NCBI
T2T-CHM13v2.01214,381,172 - 14,445,388 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_079105   ⟸   NM_024829
- Peptide Label: precursor
- UniProtKB: Q9BVV3 (UniProtKB/Swiss-Prot),   A8K4E9 (UniProtKB/Swiss-Prot),   Q9H625 (UniProtKB/Swiss-Prot),   Q6P4A8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000441278   ⟸   ENST00000541618
RefSeq Acc Id: ENSP00000240617   ⟸   ENST00000240617
RefSeq Acc Id: ENSP00000438367   ⟸   ENST00000540572

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6P4A8-F1-model_v2 AlphaFold Q6P4A8 1-553 view protein structure

Promoters
RGD ID:7223279
Promoter ID:EPDNEW_H17385
Type:initiation region
Name:PLBD1_1
Description:phospholipase B domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17386  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,567,742 - 14,567,802EPDNEW
RGD ID:7223281
Promoter ID:EPDNEW_H17386
Type:initiation region
Name:PLBD1_2
Description:phospholipase B domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17385  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381214,568,360 - 14,568,420EPDNEW
RGD ID:6790364
Promoter ID:HG_KWN:15106
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_024829
Position:
Human AssemblyChrPosition (strand)Source
Build 361214,611,519 - 14,612,019 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26215 AgrOrtholog
COSMIC PLBD1 COSMIC
Ensembl Genes ENSG00000121316 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000240617 ENTREZGENE
  ENST00000240617.10 UniProtKB/Swiss-Prot
  ENST00000540572.1 UniProtKB/TrEMBL
  ENST00000541618.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.439.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.10.70.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.60.60.20 UniProtKB/Swiss-Prot
GTEx ENSG00000121316 GTEx
HGNC ID HGNC:26215 ENTREZGENE
Human Proteome Map PLBD1 Human Proteome Map
InterPro PLipase_B-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLipase_B-like_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLipase_B-like_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLipase_B-like_dom3 UniProtKB/Swiss-Prot
KEGG Report hsa:79887 UniProtKB/Swiss-Prot
NCBI Gene 79887 ENTREZGENE
OMIM 618486 OMIM
PANTHER PHOSPHOLIPASE B-LIKE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12370 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Phospholip_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164724597 PharmGKB
UniProt A8K4E9 ENTREZGENE
  F5GYQ3_HUMAN UniProtKB/TrEMBL
  F5H053_HUMAN UniProtKB/TrEMBL
  PLBL1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9BVV3 ENTREZGENE
  Q9H625 ENTREZGENE
UniProt Secondary A8K4E9 UniProtKB/Swiss-Prot
  Q9BVV3 UniProtKB/Swiss-Prot
  Q9H625 UniProtKB/Swiss-Prot