PTGR3 (prostaglandin reductase 3) - Rat Genome Database

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Gene: PTGR3 (prostaglandin reductase 3) Homo sapiens
Analyze
Symbol: PTGR3
Name: prostaglandin reductase 3
RGD ID: 1320648
HGNC Page HGNC:28697
Description: Predicted to enable 13-prostaglandin reductase activity. Predicted to be involved in negative regulation of fat cell differentiation. Predicted to be located in peroxisome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: MGC45594; PRG-3; PTGR-3; ZADH2; zinc binding alcohol dehydrogenase domain containing 2; zinc-binding alcohol dehydrogenase domain-containing protein 2
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
GRCh381875,195,108 - 75,209,139 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1875,195,113 - 75,209,139 (-)EnsemblGRCh38hg38GRCh38
GRCh371872,907,063 - 72,921,094 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361871,039,464 - 71,050,105 (-)NCBINCBI36Build 36hg18NCBI36
Build 341871,039,470 - 71,050,105NCBI
Celera1869,727,946 - 69,739,950 (-)NCBICelera
Cytogenetic Map18q22.3NCBI
HuRef1869,594,140 - 69,606,087 (-)NCBIHuRef
CHM1_11872,903,933 - 72,915,937 (-)NCBICHM1_1
T2T-CHM13v2.01875,424,502 - 75,438,532 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
mitochondrion  (IEA)
peroxisome  (IEA,ISS)

Molecular Function

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. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:8889548   PMID:15489334   PMID:17207965   PMID:19322201   PMID:19690890   PMID:19953087   PMID:20877624   PMID:21832049   PMID:21873635   PMID:22002062   PMID:22087225   PMID:23821743  
PMID:26186194   PMID:28514442   PMID:29568061   PMID:30372681   PMID:30378028   PMID:30463901   PMID:31056398   PMID:31091453   PMID:32628020   PMID:33711283   PMID:33961781   PMID:34143546  
PMID:35831314   PMID:36215168   PMID:36224673   PMID:37827155  


Genomics

Comparative Map Data
PTGR3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381875,195,108 - 75,209,139 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1875,195,113 - 75,209,139 (-)EnsemblGRCh38hg38GRCh38
GRCh371872,907,063 - 72,921,094 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361871,039,464 - 71,050,105 (-)NCBINCBI36Build 36hg18NCBI36
Build 341871,039,470 - 71,050,105NCBI
Celera1869,727,946 - 69,739,950 (-)NCBICelera
Cytogenetic Map18q22.3NCBI
HuRef1869,594,140 - 69,606,087 (-)NCBIHuRef
CHM1_11872,903,933 - 72,915,937 (-)NCBICHM1_1
T2T-CHM13v2.01875,424,502 - 75,438,532 (-)NCBIT2T-CHM13v2.0
Ptgr3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391884,106,250 - 84,115,579 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1884,106,188 - 84,115,653 (+)EnsemblGRCm39 Ensembl
GRCm381884,088,126 - 84,097,528 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1884,088,063 - 84,097,528 (+)EnsemblGRCm38mm10GRCm38
MGSCv371884,257,550 - 84,266,906 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361884,222,351 - 84,231,707 (+)NCBIMGSCv36mm8
Celera1885,156,040 - 85,165,162 (+)NCBICelera
Cytogenetic Map18E4NCBI
cM Map1857.53NCBI
Ptgr3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81879,729,282 - 79,738,632 (+)NCBIGRCr8
mRatBN7.21877,454,435 - 77,463,785 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1877,454,435 - 77,463,785 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1879,561,463 - 79,570,827 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01880,233,544 - 80,242,902 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01878,069,184 - 78,078,548 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01880,939,875 - 80,949,226 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1880,939,875 - 80,949,226 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01879,987,672 - 79,997,023 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41880,613,957 - 80,623,307 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11880,687,407 - 80,695,298 (+)NCBI
Celera1876,077,940 - 76,087,290 (+)NCBICelera
Cytogenetic Map18q12.3NCBI
Ptgr3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540258,632,530 - 58,642,007 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540258,634,433 - 58,642,498 (-)NCBIChiLan1.0ChiLan1.0
PTGR3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21792,740,841 - 92,752,265 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11878,433,095 - 78,444,899 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01868,584,392 - 68,596,230 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11871,859,470 - 71,870,915 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1871,859,470 - 71,870,919 (-)Ensemblpanpan1.1panPan2
PTGR3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.114,303,933 - 4,311,675 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl14,303,922 - 4,311,455 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha15,311,503 - 5,319,250 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.014,115,309 - 4,123,058 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl14,115,391 - 4,123,070 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.114,153,583 - 4,161,328 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.014,106,751 - 4,114,493 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.014,277,984 - 4,285,626 (+)NCBIUU_Cfam_GSD_1.0
Ptgr3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494418,106,915 - 18,116,203 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366163,428,045 - 3,439,945 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366163,428,045 - 3,438,092 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTGR3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1148,987,518 - 148,997,954 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11148,987,197 - 148,995,138 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21164,776,841 - 164,784,056 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PTGR3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1184,702,671 - 4,712,792 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl184,702,617 - 4,714,272 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606021,158,258 - 21,170,082 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ptgr3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248065,465,370 - 5,476,260 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248065,465,755 - 5,476,891 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PTGR3
11 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1 copy number loss See cases [RCV000050985] Chr18:64950938..80252149 [GRCh38]
Chr18:62618174..78010032 [GRCh37]
Chr18:60769154..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3 copy number gain See cases [RCV000052572] Chr18:63195579..80234429 [GRCh38]
Chr18:60862812..77992312 [GRCh37]
Chr18:59013792..76093303 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:64747528-80252290)x3 copy number gain See cases [RCV000052573] Chr18:64747528..80252290 [GRCh38]
Chr18:62414764..78010173 [GRCh37]
Chr18:60565744..76111164 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1 copy number loss See cases [RCV000053875] Chr18:62999696..80209986 [GRCh38]
Chr18:60666929..77967869 [GRCh37]
Chr18:58817909..76068860 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1 copy number loss See cases [RCV000053876] Chr18:63988650..80252149 [GRCh38]
Chr18:61655884..78010032 [GRCh37]
Chr18:59806864..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:67078720-77675655)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053903]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053903]|See cases [RCV000053903] Chr18:67078720..77675655 [GRCh38]
Chr18:64745957..75387611 [GRCh37]
Chr18:62896937..73516599 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1 copy number loss See cases [RCV000053905] Chr18:69288245..80252149 [GRCh38]
Chr18:66955481..78010032 [GRCh37]
Chr18:65106461..76111023 [NCBI36]
Chr18:18q22.2-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1 copy number loss See cases [RCV000053906] Chr18:74207209..79351148 [GRCh38]
Chr18:71874444..77111148 [GRCh37]
Chr18:70025424..75212136 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
NM_175907.4(ZADH2):c.209+2077A>G single nucleotide variant Lung cancer [RCV000101016] Chr18:75206773 [GRCh38]
Chr18:72918728 [GRCh37]
Chr18:18q22.3		 uncertain significance
GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1 copy number loss See cases [RCV000133824] Chr18:69200589..80252149 [GRCh38]
Chr18:66867826..78010032 [GRCh37]
Chr18:65018806..76111023 [NCBI36]
Chr18:18q22.2-23		 pathogenic
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 copy number loss See cases [RCV000133689] Chr18:59567681..80252149 [GRCh38]
Chr18:57234913..78010032 [GRCh37]
Chr18:55385893..76111023 [NCBI36]
Chr18:18q21.32-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:71067804-80252149)x1 copy number loss See cases [RCV000135818] Chr18:71067804..80252149 [GRCh38]
Chr18:68735040..78010032 [GRCh37]
Chr18:66886020..76111023 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1 copy number loss See cases [RCV000135838] Chr18:63306200..80252149 [GRCh38]
Chr18:60973433..78010032 [GRCh37]
Chr18:59124413..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1 copy number loss See cases [RCV000135616] Chr18:61576009..80252149 [GRCh38]
Chr18:59243242..78010032 [GRCh37]
Chr18:57394222..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:72426712-80252149)x1 copy number loss See cases [RCV000135539] Chr18:72426712..80252149 [GRCh38]
Chr18:70093947..78010032 [GRCh37]
Chr18:68244927..76111023 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1 copy number loss See cases [RCV000135567] Chr18:61827111..80252149 [GRCh38]
Chr18:59494344..78010032 [GRCh37]
Chr18:57645324..76111023 [NCBI36]
Chr18:18q21.33-23		 pathogenic|uncertain significance
GRCh38/hg38 18q22.1-23(chr18:67772576-80252149)x1 copy number loss See cases [RCV000136555] Chr18:67772576..80252149 [GRCh38]
Chr18:65439813..78010032 [GRCh37]
Chr18:63590793..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1 copy number loss See cases [RCV000136122] Chr18:68417596..80252149 [GRCh38]
Chr18:66084833..78010032 [GRCh37]
Chr18:64235813..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1 copy number loss See cases [RCV000136911] Chr18:65693588..80252149 [GRCh38]
Chr18:63360824..78010032 [GRCh37]
Chr18:61511804..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1 copy number loss See cases [RCV000137431] Chr18:68830234..80254946 [GRCh38]
Chr18:66497471..78012829 [GRCh37]
Chr18:64648451..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1 copy number loss See cases [RCV000137598] Chr18:65658824..80254946 [GRCh38]
Chr18:63326060..78012829 [GRCh37]
Chr18:61477040..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1 copy number loss See cases [RCV000137379] Chr18:68563422..80254946 [GRCh38]
Chr18:66230659..78012829 [GRCh37]
Chr18:64381639..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1 copy number loss See cases [RCV000137808] Chr18:66190016..80254946 [GRCh38]
Chr18:63857253..78012829 [GRCh37]
Chr18:62008233..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic|likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1 copy number loss See cases [RCV000138707] Chr18:64747728..80254946 [GRCh38]
Chr18:62414964..78012829 [GRCh37]
Chr18:60565944..76113817 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x3 copy number gain See cases [RCV000138718] Chr18:73332839..80254946 [GRCh38]
Chr18:71000074..78012829 [GRCh37]
Chr18:69151054..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x1 copy number loss See cases [RCV000138719] Chr18:73332839..80254946 [GRCh38]
Chr18:71000074..78012829 [GRCh37]
Chr18:69151054..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:72043906-80254936)x1 copy number loss See cases [RCV000138491] Chr18:72043906..80254936 [GRCh38]
Chr18:69711141..78012819 [GRCh37]
Chr18:67862121..76113807 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1 copy number loss See cases [RCV000138248] Chr18:69650802..80254946 [GRCh38]
Chr18:67318038..78012829 [GRCh37]
Chr18:65469018..76113817 [NCBI36]
Chr18:18q22.2-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1 copy number loss See cases [RCV000138638] Chr18:66649227..80254936 [GRCh38]
Chr18:64316464..78012819 [GRCh37]
Chr18:62467444..76113807 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q22.3-23(chr18:71872883-80254946)x3 copy number gain See cases [RCV000139457] Chr18:71872883..80254946 [GRCh38]
Chr18:69540119..78012829 [GRCh37]
Chr18:67691099..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1 copy number loss See cases [RCV000139669] Chr18:59996934..80254946 [GRCh38]
Chr18:57664166..78012829 [GRCh37]
Chr18:55815146..76113817 [NCBI36]
Chr18:18q21.32-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1 copy number loss See cases [RCV000139464] Chr18:63756916..80254946 [GRCh38]
Chr18:61424150..78012829 [GRCh37]
Chr18:59575130..76113817 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1 copy number loss See cases [RCV000141429] Chr18:61613338..80252090 [GRCh38]
Chr18:59280571..78009973 [GRCh37]
Chr18:57431551..76110964 [NCBI36]
Chr18:18q21.33-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1 copy number loss See cases [RCV000140899] Chr18:68340002..80256240 [GRCh38]
Chr18:66007239..78014123 [GRCh37]
Chr18:64158219..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1 copy number loss See cases [RCV000142176] Chr18:66456349..80256240 [GRCh38]
Chr18:64123586..78014123 [GRCh37]
Chr18:62274566..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3 copy number gain See cases [RCV000142689] Chr18:67686362..80252149 [GRCh38]
Chr18:65353599..78010032 [GRCh37]
Chr18:63504579..76111023 [NCBI36]
Chr18:18q22.1-23		 pathogenic|likely pathogenic
GRCh38/hg38 18q22.3-23(chr18:72639340-80254946)x1 copy number loss See cases [RCV000143196] Chr18:72639340..80254946 [GRCh38]
Chr18:70306575..78012829 [GRCh37]
Chr18:68457555..76113817 [NCBI36]
Chr18:18q22.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1 copy number loss See cases [RCV000143557] Chr18:68857904..80256240 [GRCh38]
Chr18:66525141..78014123 [GRCh37]
Chr18:64676121..76115097 [NCBI36]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
Single allele deletion Intestinal malrotation [RCV000754988] Chr18:64876751..78015117 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3 copy number gain See cases [RCV000240296] Chr18:58525322..78005236 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:71078132-78005236)x3 copy number gain See cases [RCV000240461] Chr18:71078132..78005236 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:71740696-78005231)x1 copy number loss not provided [RCV003312421] Chr18:71740696..78005231 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59461447-78010032)x1 copy number loss not provided [RCV000416006] Chr18:59461447..78010032 [GRCh37]
Chr18:18q21.33-23		 likely pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123)x1 copy number loss See cases [RCV000449163] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:65648458-78005185)x1 copy number loss See cases [RCV000446791] Chr18:65648458..78005185 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1 copy number loss See cases [RCV000447117] Chr18:66593317..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60641553-78014123)x1 copy number loss See cases [RCV000447127] Chr18:60641553..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60796196-78014123)x1 copy number loss See cases [RCV000446171] Chr18:60796196..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23		 likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59809990-78014123)x1 copy number loss See cases [RCV000510685] Chr18:59809990..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64524888-78014123)x1 copy number loss See cases [RCV000511752] Chr18:64524888..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59876469-78014123)x1 copy number loss See cases [RCV000511105] Chr18:59876469..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70340543-78014123)x1 copy number loss See cases [RCV000511232] Chr18:70340543..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66625843-78014123)x1 copy number loss See cases [RCV000510824] Chr18:66625843..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV000768454] Chr18:58024137..77996821 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:61673145-78014123)x1 copy number loss See cases [RCV000512607] Chr18:61673145..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66593317-78014123)x1 copy number loss See cases [RCV000512281] Chr18:66593317..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:67431406-78014123)x1 copy number loss See cases [RCV000512218] Chr18:67431406..78014123 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:61802304-78015180)x1 copy number loss See cases [RCV000515583] Chr18:61802304..78015180 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58768873-78014123)x1 copy number loss See cases [RCV000512579] Chr18:58768873..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q22.3(chr18:72620754-72935461)x3 copy number gain See cases [RCV000512581] Chr18:72620754..72935461 [GRCh37]
Chr18:18q22.3		 uncertain significance
GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1 copy number loss not provided [RCV000684045] Chr18:69968033..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:67082104-78014123)x1 copy number loss not provided [RCV000684047] Chr18:67082104..78014123 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64764747-78014123)x1 copy number loss not provided [RCV000684049] Chr18:64764747..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60416709-78014123)x1 copy number loss not provided [RCV000684055] Chr18:60416709..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64610595-78014123)x1 copy number loss not provided [RCV000684050] Chr18:64610595..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.3(chr18:72799720-73028198)x3 copy number gain not provided [RCV000683984] Chr18:72799720..73028198 [GRCh37]
Chr18:18q22.3		 uncertain significance
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64232938-75262263)x1 copy number loss not provided [RCV000739850] Chr18:64232938..75262263 [GRCh37]
Chr18:18q22.1-23		 benign
GRCh37/hg19 18q22.2-23(chr18:68552596-78015180)x1 copy number loss not provided [RCV000739867] Chr18:68552596..78015180 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66620343-74065460)x1 copy number loss not provided [RCV001007009] Chr18:66620343..74065460 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70383594-78014123)x1 copy number loss not provided [RCV001007023] Chr18:70383594..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1 copy number loss not provided [RCV000752356] Chr18:57244903..77325446 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59585959-78015180)x1 copy number loss not provided [RCV000752366] Chr18:59585959..78015180 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:61994711-74293556)x1 copy number loss not provided [RCV001007010] Chr18:61994711..74293556 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
NM_175907.6(PTGR3):c.346A>G (p.Thr116Ala) single nucleotide variant Inborn genetic diseases [RCV003270249] Chr18:75202204 [GRCh38]
Chr18:72914159 [GRCh37]
Chr18:18q22.3		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:63247046-78014123)x1 copy number loss not provided [RCV001007020] Chr18:63247046..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787397] Chr18:62984563..78015117 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1 copy number loss not provided [RCV000847258] Chr18:70011110..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70011110-78014123)x1 copy number loss not provided [RCV000847255] Chr18:70011110..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70212733-78014123)x1 copy number loss not provided [RCV001007022] Chr18:70212733..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:72401103-73284023)x3 copy number gain not provided [RCV001007008] Chr18:72401103..73284023 [GRCh37]
Chr18:18q22.3-23		 uncertain significance
GRCh37/hg19 18q21.33-23(chr18:60098018-78014123)x1 copy number loss not provided [RCV001007019] Chr18:60098018..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:67551299-78014123)x1 copy number loss not provided [RCV001007021] Chr18:67551299..78014123 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70835154-78014123)x1 copy number loss not provided [RCV001259363] Chr18:70835154..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
Single allele deletion Deletion of long arm of chromosome 18 [RCV002280357] Chr18:61490305..80247612 [GRCh38]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63747519-78014123)x3 copy number gain not provided [RCV001259360] Chr18:63747519..78014123 [GRCh37]
Chr18:18q22.1-23		 likely pathogenic
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:61289055-78014123) copy number loss Deletion of long arm of chromosome 18 [RCV002280712] Chr18:61289055..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:70333866-78014123) copy number loss not specified [RCV002052662] Chr18:70333866..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.2-23(chr18:68585785-74978794)x1 copy number loss not provided [RCV001827682] Chr18:68585785..74978794 [GRCh37]
Chr18:18q22.2-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:64340599-77273893) copy number loss not specified [RCV002052652] Chr18:64340599..77273893 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:58305972-78014123) copy number loss not specified [RCV002052647] Chr18:58305972..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:59332806-78014123) copy number loss not specified [RCV002052649] Chr18:59332806..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
Single allele deletion Pulmonary valve stenosis [RCV002247713] Chr18:69541066..80373285 [GRCh38]
Chr18:18q22.2-23		 pathogenic
NM_175907.6(PTGR3):c.154A>C (p.Ser52Arg) single nucleotide variant Inborn genetic diseases [RCV003255880] Chr18:75208905 [GRCh38]
Chr18:72920860 [GRCh37]
Chr18:18q22.3		 likely benign
GRCh37/hg19 18q22.3-23(chr18:72669936-77889946)x1 copy number loss See cases [RCV002293965] Chr18:72669936..77889946 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:66530142-78014123)x1 copy number loss not provided [RCV002472600] Chr18:66530142..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:61520071-78014123)x1 copy number loss not provided [RCV002472513] Chr18:61520071..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
NM_175907.6(PTGR3):c.1039G>A (p.Glu347Lys) single nucleotide variant Inborn genetic diseases [RCV003277582] Chr18:75201511 [GRCh38]
Chr18:72913466 [GRCh37]
Chr18:18q22.3		 uncertain significance
NM_175907.6(PTGR3):c.1052G>T (p.Arg351Leu) single nucleotide variant Inborn genetic diseases [RCV003179893] Chr18:75201498 [GRCh38]
Chr18:72913453 [GRCh37]
Chr18:18q22.3		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1 copy number loss Deletion of long arm of chromosome 18 [RCV003225711] Chr18:66459747..78012829 [GRCh37]
Chr18:18q22.1-23		 pathogenic
NM_175907.6(PTGR3):c.92A>T (p.Gln31Leu) single nucleotide variant Inborn genetic diseases [RCV003213266] Chr18:75208967 [GRCh38]
Chr18:72920922 [GRCh37]
Chr18:18q22.3		 uncertain significance
NM_175907.6(PTGR3):c.274C>G (p.Pro92Ala) single nucleotide variant Inborn genetic diseases [RCV003209999] Chr18:75202276 [GRCh38]
Chr18:72914231 [GRCh37]
Chr18:18q22.3		 uncertain significance
NM_175907.6(PTGR3):c.149C>A (p.Thr50Asn) single nucleotide variant Inborn genetic diseases [RCV003173432] Chr18:75208910 [GRCh38]
Chr18:72920865 [GRCh37]
Chr18:18q22.3		 uncertain significance
GRCh37/hg19 18q22.1-23(chr18:66057406-78014123) copy number loss Deletion of long arm of chromosome 18 [RCV003319595] Chr18:66057406..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63476940-77960815)x1 copy number loss not provided [RCV003326989] Chr18:63476940..77960815 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.33-23(chr18:60771809-78014123)x1 copy number loss not provided [RCV003483341] Chr18:60771809..78014123 [GRCh37]
Chr18:18q21.33-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:71401603-78014123)x1 copy number loss not provided [RCV003483343] Chr18:71401603..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 copy number loss not specified [RCV003986103] Chr18:48766173..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:69968033-78014123)x1 copy number loss not specified [RCV003987276] Chr18:69968033..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
GRCh37/hg19 18q22.1-23(chr18:63427506-78014123)x1 copy number loss not specified [RCV003987279] Chr18:63427506..78014123 [GRCh37]
Chr18:18q22.1-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1 copy number loss not specified [RCV003987273] Chr18:55363398..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q22.3-23(chr18:72453821-78014123)x1 copy number loss not specified [RCV003987280] Chr18:72453821..78014123 [GRCh37]
Chr18:18q22.3-23		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3818
Count of miRNA genes:1259
Interacting mature miRNAs:1607
Transcripts:ENST00000322342, ENST00000537114, ENST00000581620, ENST00000582437
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH47795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371872,910,554 - 72,910,704UniSTSGRCh37
Build 361871,039,542 - 71,039,692RGDNCBI36
Celera1869,729,224 - 69,729,374RGD
Cytogenetic Map18q22.3UniSTS
HuRef1869,595,418 - 69,595,568UniSTS
GeneMap99-GB4 RH Map18467.72UniSTS
RH103890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371872,914,371 - 72,914,506UniSTSGRCh37
Build 361871,043,359 - 71,043,494RGDNCBI36
Celera1869,733,041 - 69,733,176RGD
Cytogenetic Map18q22.3UniSTS
HuRef1869,599,235 - 69,599,370UniSTS
GeneMap99-GB4 RH Map18467.72UniSTS
RH78532  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371872,912,159 - 72,912,292UniSTSGRCh37
Build 361871,041,147 - 71,041,280RGDNCBI36
Celera1869,730,829 - 69,730,962RGD
Cytogenetic Map18q22.3UniSTS
HuRef1869,597,023 - 69,597,156UniSTS
GeneMap99-GB4 RH Map18467.72UniSTS
WI-22260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371872,911,303 - 72,911,519UniSTSGRCh37
Build 361871,040,291 - 71,040,507RGDNCBI36
Celera1869,729,973 - 69,730,189RGD
Cytogenetic Map18q22.3UniSTS
HuRef1869,596,167 - 69,596,383UniSTS
GeneMap99-GB4 RH Map18467.72UniSTS
Whitehead-RH Map18515.3UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1805 598 1082 215 965 92 2898 1499 2125 239 955 1417 130 878 1848 1
Low 634 2378 643 408 971 372 1458 698 1609 180 505 196 44 1 326 940 5 2
Below cutoff 15 1 1 15 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001306093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC025105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC078661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU682476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX361234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HH961818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000322342   ⟹   ENSP00000323678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1875,195,113 - 75,209,139 (-)Ensembl
RefSeq Acc Id: ENST00000537114   ⟹   ENSP00000440111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1875,199,457 - 75,205,513 (-)Ensembl
RefSeq Acc Id: ENST00000581620   ⟹   ENSP00000463844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1875,201,878 - 75,208,417 (-)Ensembl
RefSeq Acc Id: ENST00000582437   ⟹   ENSP00000463106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1875,201,717 - 75,208,466 (-)Ensembl
RefSeq Acc Id: NM_001306093   ⟹   NP_001293022
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381875,195,108 - 75,205,513 (-)NCBI
CHM1_11872,901,718 - 72,912,125 (-)NCBI
T2T-CHM13v2.01875,424,502 - 75,434,906 (-)NCBI
Sequence:
RefSeq Acc Id: NM_175907   ⟹   NP_787103
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381875,195,113 - 75,209,139 (-)NCBI
GRCh371872,909,278 - 72,921,281 (-)RGD
Build 361871,039,464 - 71,050,105 (-)NCBI Archive
Celera1869,727,946 - 69,739,950 (-)RGD
HuRef1869,594,140 - 69,606,087 (-)RGD
CHM1_11872,901,718 - 72,915,959 (-)NCBI
T2T-CHM13v2.01875,424,507 - 75,438,532 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451166   ⟹   XP_024306934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381875,195,108 - 75,208,517 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054318537   ⟹   XP_054174512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01875,424,502 - 75,438,155 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_787103   ⟸   NM_175907
- Peptide Label: isoform 1
- UniProtKB: A8KA15 (UniProtKB/Swiss-Prot),   B4DZ91 (UniProtKB/Swiss-Prot),   Q8N4Q0 (UniProtKB/Swiss-Prot),   Q4G1C4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293022   ⟸   NM_001306093
- Peptide Label: isoform 2
- UniProtKB: Q8N4Q0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024306934   ⟸   XM_024451166
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000463844   ⟸   ENST00000581620
RefSeq Acc Id: ENSP00000463106   ⟸   ENST00000582437
RefSeq Acc Id: ENSP00000323678   ⟸   ENST00000322342
RefSeq Acc Id: ENSP00000440111   ⟸   ENST00000537114
RefSeq Acc Id: XP_054174512   ⟸   XM_054318537
- Peptide Label: isoform X1
Protein Domains
Alcohol dehydrogenase-like C-terminal   Enoyl reductase (ER)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N4Q0-F1-model_v2 AlphaFold Q8N4Q0 1-377 view protein structure

Promoters
RGD ID:6795060
Promoter ID:HG_KWN:28236
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC010DQV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361871,045,736 - 71,046,236 (-)MPROMDB
RGD ID:6795058
Promoter ID:HG_KWN:28237
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000256332
Position:
Human AssemblyChrPosition (strand)Source
Build 361871,049,931 - 71,050,682 (-)MPROMDB
RGD ID:7237607
Promoter ID:EPDNEW_H24549
Type:initiation region
Name:ZADH2_2
Description:zinc binding alcohol dehydrogenase domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24550  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381875,209,093 - 75,209,153EPDNEW
RGD ID:7237609
Promoter ID:EPDNEW_H24550
Type:initiation region
Name:ZADH2_1
Description:zinc binding alcohol dehydrogenase domain containing 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24549  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381875,209,345 - 75,209,405EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28697 AgrOrtholog
COSMIC PTGR3 COSMIC
Ensembl Genes ENSG00000180011 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000322342 ENTREZGENE
  ENST00000322342.4 UniProtKB/Swiss-Prot
  ENST00000537114 ENTREZGENE
  ENST00000537114.2 UniProtKB/Swiss-Prot
  ENST00000581620.1 UniProtKB/TrEMBL
  ENST00000582437.1 UniProtKB/TrEMBL
Gene3D-CATH Medium-chain alcohol dehydrogenases, catalytic domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000180011 GTEx
HGNC ID HGNC:28697 ENTREZGENE
Human Proteome Map PTGR3 Human Proteome Map
InterPro ADH_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GroES-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PKS_ER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Quin_OxRdtase/zeta-crystal_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:284273 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 284273 ENTREZGENE
OMIM 620604 OMIM
PANTHER PROSTAGLANDIN REDUCTASE 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHORT-CHAIN DEHYDROGENASE/REDUCTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ADH_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADH_zinc_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE QOR_ZETA_CRYSTAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PKS_ER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50129 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8KA15 ENTREZGENE
  B4DZ91 ENTREZGENE
  J3KTQ8_HUMAN UniProtKB/TrEMBL
  J3QQQ7_HUMAN UniProtKB/TrEMBL
  PTGR3_HUMAN UniProtKB/Swiss-Prot
  Q4G1C4 ENTREZGENE, UniProtKB/TrEMBL
  Q8N4Q0 ENTREZGENE
UniProt Secondary A8KA15 UniProtKB/Swiss-Prot
  B4DZ91 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-02-07 PTGR3  prostaglandin reductase 3  ZADH2  zinc binding alcohol dehydrogenase domain containing 2  Symbol and/or name change 19259463 PROVISIONAL