PTPRO (protein tyrosine phosphatase receptor type O) - Rat Genome Database

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Gene: PTPRO (protein tyrosine phosphatase receptor type O) Homo sapiens
Analyze
Symbol: PTPRO
Name: protein tyrosine phosphatase receptor type O
RGD ID: 731757
HGNC Page HGNC
Description: Enables cadherin binding activity and protein tyrosine phosphatase activity. Involved in glomerulus development; monocyte chemotaxis; and peptidyl-tyrosine dephosphorylation. Located in extracellular exosome. Implicated in nephrotic syndrome type 6.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GLEPP1; glomerular epithelial protein 1; glomerular epithelial protein-1; NPHS6; osteoclastic transmembrane protein-tyrosine phosphatase; phosphotyrosine phosphatase U2; protein tyrosine phosphatase PTP-U2; protein tyrosine phosphatase U2; PTP phi; PTP-oc; PTP-U2; PTPase U2; PTPROT; PTPU2; R-PTP-O; receptor-type protein tyrosine phosphatase O; receptor-type tyrosine-protein phosphatase O
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
GRCh38.p13 Ensembl1215,322,257 - 15,602,175 (+)EnsemblGRCh38hg38GRCh38
GRCh381215,322,334 - 15,598,331 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371215,475,442 - 15,751,265 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361215,366,754 - 15,641,602 (+)NCBINCBI36hg18NCBI36
Build 341215,590,552 - 15,641,602NCBI
Celera1220,620,432 - 20,895,225 (+)NCBI
Cytogenetic Map12p12.3NCBI
HuRef1215,244,485 - 15,520,600 (+)NCBIHuRef
CHM1_11215,441,256 - 15,717,221 (+)NCBICHM1_1
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
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-azacytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (ISO)
camptothecin  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
clothianidin  (EXP)
cobalt dichloride  (EXP)
copper(II) chloride  (EXP)
crocidolite asbestos  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
diarsenic trioxide  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
ethanol  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
furan  (ISO)
gamma-tocopherol  (ISO)
L-methionine  (ISO)
lead diacetate  (EXP,ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
parathion  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
progesterone  (ISO)
rotenone  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (ISO)
tamoxifen  (EXP)
terbufos  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tocopherol  (ISO)
triptonide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
vitamin E  (EXP)
zinc protoporphyrin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:7665166   PMID:7753550   PMID:9263011   PMID:10397721   PMID:10498613   PMID:11238916   PMID:11368509   PMID:12477932   PMID:12949066   PMID:15356345   PMID:15803146   PMID:15978577  
PMID:16169070   PMID:16344560   PMID:16888096   PMID:17545520   PMID:17593862   PMID:18342392   PMID:18644370   PMID:19056867   PMID:19095770   PMID:19167335   PMID:19233845   PMID:19573017  
PMID:19834535   PMID:19855081   PMID:19913121   PMID:20379614   PMID:20564182   PMID:20628086   PMID:20633639   PMID:21722858   PMID:21832049   PMID:21873635   PMID:21900206   PMID:22001392  
PMID:22099875   PMID:22126837   PMID:22851698   PMID:23376485   PMID:23533167   PMID:24090193   PMID:24128416   PMID:25034527   PMID:25301722   PMID:25339662   PMID:25462809   PMID:25482129  
PMID:25633279   PMID:26117839   PMID:27272414   PMID:27345410   PMID:27432908   PMID:28199135   PMID:28330616   PMID:28586036   PMID:28675297   PMID:28926625   PMID:30443949   PMID:31091453  
PMID:31448453   PMID:31452237   PMID:32513696   PMID:32545848   PMID:32581055   PMID:33961781   PMID:34436835  


Genomics

Comparative Map Data
PTPRO
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1215,322,257 - 15,602,175 (+)EnsemblGRCh38hg38GRCh38
GRCh381215,322,334 - 15,598,331 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371215,475,442 - 15,751,265 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361215,366,754 - 15,641,602 (+)NCBINCBI36hg18NCBI36
Build 341215,590,552 - 15,641,602NCBI
Celera1220,620,432 - 20,895,225 (+)NCBI
Cytogenetic Map12p12.3NCBI
HuRef1215,244,485 - 15,520,600 (+)NCBIHuRef
CHM1_11215,441,256 - 15,717,221 (+)NCBICHM1_1
Ptpro
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396137,229,189 - 137,441,632 (+)NCBIGRCm39mm39
GRCm39 Ensembl6137,229,317 - 137,440,231 (+)Ensembl
GRCm386137,252,299 - 137,464,634 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6137,252,319 - 137,463,233 (+)EnsemblGRCm38mm10GRCm38
MGSCv376137,200,820 - 137,413,155 (+)NCBIGRCm37mm9NCBIm37
MGSCv366137,216,661 - 137,427,429 (+)NCBImm8
Celera6140,313,708 - 140,529,181 (+)NCBICelera
Cytogenetic Map6G1NCBI
Ptpro
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.24170,164,071 - 170,374,790 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl4170,164,431 - 170,374,771 (+)Ensembl
Rnor_6.04171,250,766 - 171,461,571 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4171,250,818 - 171,461,677 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04235,507,823 - 235,718,691 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44174,376,396 - 174,586,694 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.14174,621,519 - 174,831,818 (+)NCBI
Celera4158,744,680 - 158,954,298 (+)NCBICelera
Cytogenetic Map4q43-q44NCBI
Ptpro
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541312,018,888 - 12,248,807 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541312,019,026 - 12,248,026 (+)NCBIChiLan1.0ChiLan1.0
PTPRO
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11215,725,447 - 15,990,532 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1215,725,917 - 15,990,532 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01215,329,314 - 15,594,787 (+)NCBIMhudiblu_PPA_v0panPan3
PTPRO
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12731,082,334 - 31,322,024 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2731,084,544 - 31,322,022 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2715,127,226 - 15,366,211 (+)NCBI
ROS_Cfam_1.02731,403,012 - 31,640,473 (-)NCBI
ROS_Cfam_1.0 Ensembl2731,403,562 - 31,640,210 (-)Ensembl
UMICH_Zoey_3.12731,291,842 - 31,530,890 (-)NCBI
UNSW_CanFamBas_1.02731,247,444 - 31,488,513 (-)NCBI
UU_Cfam_GSD_1.02714,846,836 - 15,088,282 (+)NCBI
Ptpro
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494592,239,451 - 92,460,970 (-)NCBI
SpeTri2.0NW_0049365871,967,079 - 2,188,651 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTPRO
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl557,019,745 - 57,263,346 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1557,021,819 - 57,263,395 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2560,237,424 - 60,286,938 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PTPRO
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11115,225,375 - 15,494,559 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1115,392,926 - 15,495,807 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366606919,805,301 - 20,076,839 (-)NCBIVero_WHO_p1.0
Ptpro
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475222,446,203 - 22,700,925 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D12S1303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,633,624 - 15,633,825UniSTSGRCh37
Build 361215,524,891 - 15,525,092RGDNCBI36
Celera1220,778,572 - 20,778,769RGD
Cytogenetic Map12p13.3-p13.2UniSTS
Cytogenetic Map12p13-p12UniSTS
HuRef1215,402,632 - 15,402,817UniSTS
Marshfield Genetic Map1232.48RGD
Marshfield Genetic Map1232.48UniSTS
deCODE Assembly Map1233.23UniSTS
Whitehead-YAC Contig Map12 UniSTS
G62268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,618,065 - 15,618,217UniSTSGRCh37
Build 361215,509,332 - 15,509,484RGDNCBI36
Celera1220,763,013 - 20,763,165RGD
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map12p13.3-p13.2UniSTS
HuRef1215,387,061 - 15,387,213UniSTS
G62341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,709,500 - 15,709,721UniSTSGRCh37
Build 361215,600,767 - 15,600,988RGDNCBI36
Celera1220,854,395 - 20,854,616RGD
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map12p13.3-p13.2UniSTS
HuRef1215,478,823 - 15,479,044UniSTS
G62271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,618,001 - 15,618,087UniSTSGRCh37
Build 361215,509,268 - 15,509,354RGDNCBI36
Celera1220,762,949 - 20,763,035RGD
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map12p13.3-p13.2UniSTS
HuRef1215,386,997 - 15,387,083UniSTS
D12S1571  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,750,203 - 15,750,315UniSTSGRCh37
Build 361215,641,470 - 15,641,582RGDNCBI36
Celera1220,895,093 - 20,895,205RGD
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map12p13.3-p13.2UniSTS
HuRef1215,519,537 - 15,519,649UniSTS
SHGC-103008  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,676,154 - 15,676,352UniSTSGRCh37
Build 361215,567,421 - 15,567,619RGDNCBI36
Celera1220,821,039 - 20,821,237RGD
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map12p13.3-p13.2UniSTS
HuRef1215,445,461 - 15,445,659UniSTS
TNG Radiation Hybrid Map126557.0UniSTS
SHGC-68526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,488,871 - 15,489,148UniSTSGRCh37
Build 361215,380,138 - 15,380,415RGDNCBI36
Celera1220,633,816 - 20,634,093RGD
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map12p13.3-p13.2UniSTS
HuRef1215,258,165 - 15,258,442UniSTS
TNG Radiation Hybrid Map126496.0UniSTS
A007I29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,750,155 - 15,750,287UniSTSGRCh37
Build 361215,641,422 - 15,641,554RGDNCBI36
Celera1220,895,045 - 20,895,177RGD
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map12p13.3-p13.2UniSTS
HuRef1215,519,489 - 15,519,621UniSTS
GeneMap99-GB4 RH Map1244.94UniSTS
NCBI RH Map12187.8UniSTS
SHGC-31637  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,749,055 - 15,749,268UniSTSGRCh37
Build 361215,640,322 - 15,640,535RGDNCBI36
Celera1220,893,945 - 20,894,158RGD
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map12p13.3-p13.2UniSTS
HuRef1215,518,389 - 15,518,602UniSTS
Stanford-G3 RH Map12867.0UniSTS
NCBI RH Map12187.3UniSTS
GeneMap99-G3 RH Map12867.0UniSTS
PTPRO_1364  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371215,749,707 - 15,750,461UniSTSGRCh37
Build 361215,640,974 - 15,641,728RGDNCBI36
Celera1220,894,597 - 20,895,351RGD
HuRef1215,519,041 - 15,519,796UniSTS
GDB:591927  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map12p13.3-p13.2UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR17hsa-miR-17-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI18644370

Predicted Target Of
Summary Value
Count of predictions:4589
Count of miRNA genes:887
Interacting mature miRNAs:1042
Transcripts:ENST00000281171, ENST00000348962, ENST00000442921, ENST00000445537, ENST00000535311, ENST00000535322, ENST00000538907, ENST00000542557, ENST00000543886, ENST00000544244, ENST00000544706, ENST00000545023
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 64 109 74 2 2 359 128 51 49 1 1
Low 1237 1576 737 181 1238 125 2309 371 2952 205 759 870 58 1052 1446 2
Below cutoff 1088 1295 961 422 561 317 2016 1802 388 65 576 605 108 1 151 1342 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_030671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_931318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF152378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF187042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF187043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF187044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035960 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA165109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC358516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR000351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U20489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z48541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000281171   ⟹   ENSP00000281171
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,322,508 - 15,598,331 (+)Ensembl
RefSeq Acc Id: ENST00000348962   ⟹   ENSP00000343434
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,322,553 - 15,598,331 (+)Ensembl
RefSeq Acc Id: ENST00000442921   ⟹   ENSP00000404188
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,546,369 - 15,597,276 (+)Ensembl
RefSeq Acc Id: ENST00000445537   ⟹   ENSP00000393449
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,546,352 - 15,597,399 (+)Ensembl
RefSeq Acc Id: ENST00000535311   ⟹   ENSP00000445621
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,546,618 - 15,580,069 (+)Ensembl
RefSeq Acc Id: ENST00000535322   ⟹   ENSP00000446201
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,580,763 - 15,587,176 (+)Ensembl
RefSeq Acc Id: ENST00000538907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,565,349 - 15,580,746 (+)Ensembl
RefSeq Acc Id: ENST00000542557   ⟹   ENSP00000437571
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,546,352 - 15,597,399 (+)Ensembl
RefSeq Acc Id: ENST00000543886   ⟹   ENSP00000444173
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,322,522 - 15,517,067 (+)Ensembl
RefSeq Acc Id: ENST00000544244   ⟹   ENSP00000439234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,546,352 - 15,597,399 (+)Ensembl
RefSeq Acc Id: ENST00000544706   ⟹   ENSP00000501413
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,546,370 - 15,597,384 (+)Ensembl
RefSeq Acc Id: ENST00000545023
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,322,777 - 15,410,766 (+)Ensembl
RefSeq Acc Id: ENST00000674186
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,322,427 - 15,486,459 (+)Ensembl
RefSeq Acc Id: ENST00000674188   ⟹   ENSP00000501325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,322,502 - 15,597,282 (+)Ensembl
RefSeq Acc Id: ENST00000674220   ⟹   ENSP00000501384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,546,371 - 15,597,380 (+)Ensembl
RefSeq Acc Id: ENST00000674261   ⟹   ENSP00000501538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,322,584 - 15,597,346 (+)Ensembl
RefSeq Acc Id: ENST00000674286   ⟹   ENSP00000501361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,322,893 - 15,597,345 (+)Ensembl
RefSeq Acc Id: ENST00000674316   ⟹   ENSP00000501352
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,322,257 - 15,597,323 (+)Ensembl
RefSeq Acc Id: ENST00000674352   ⟹   ENSP00000501378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,546,632 - 15,596,415 (+)Ensembl
RefSeq Acc Id: ENST00000674354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,546,639 - 15,572,589 (+)Ensembl
RefSeq Acc Id: ENST00000674385   ⟹   ENSP00000501540
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,551,590 - 15,594,975 (+)Ensembl
RefSeq Acc Id: ENST00000674388   ⟹   ENSP00000501494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,546,344 - 15,602,175 (+)Ensembl
RefSeq Acc Id: ENST00000674391   ⟹   ENSP00000501451
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,322,364 - 15,597,373 (+)Ensembl
RefSeq Acc Id: ENST00000674392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,546,634 - 15,572,614 (+)Ensembl
RefSeq Acc Id: ENST00000674434
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,567,702 - 15,597,254 (+)Ensembl
RefSeq Acc Id: ENST00000674483
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1215,322,883 - 15,359,295 (+)Ensembl
RefSeq Acc Id: NM_002848   ⟹   NP_002839
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,322,508 - 15,598,331 (+)NCBI
GRCh371215,475,191 - 15,751,265 (+)ENTREZGENE
Build 361215,366,754 - 15,641,602 (+)NCBI Archive
HuRef1215,244,485 - 15,520,600 (+)ENTREZGENE
CHM1_11215,441,256 - 15,717,221 (+)NCBI
Sequence:
RefSeq Acc Id: NM_030667   ⟹   NP_109592
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,322,508 - 15,598,331 (+)NCBI
GRCh371215,475,191 - 15,751,265 (+)ENTREZGENE
Build 361215,366,754 - 15,641,602 (+)NCBI Archive
HuRef1215,244,485 - 15,520,600 (+)ENTREZGENE
CHM1_11215,441,256 - 15,717,221 (+)NCBI
Sequence:
RefSeq Acc Id: NM_030668   ⟹   NP_109593
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,546,611 - 15,598,331 (+)NCBI
GRCh371215,475,191 - 15,751,265 (+)ENTREZGENE
Build 361215,590,553 - 15,641,602 (+)NCBI Archive
HuRef1215,244,485 - 15,520,600 (+)ENTREZGENE
CHM1_11215,665,248 - 15,717,221 (+)NCBI
Sequence:
RefSeq Acc Id: NM_030669   ⟹   NP_109594
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,546,611 - 15,598,331 (+)NCBI
GRCh371215,475,191 - 15,751,265 (+)ENTREZGENE
Build 361215,590,553 - 15,641,602 (+)NCBI Archive
HuRef1215,244,485 - 15,520,600 (+)ENTREZGENE
CHM1_11215,665,248 - 15,717,221 (+)NCBI
Sequence:
RefSeq Acc Id: NM_030670   ⟹   NP_109595
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,546,611 - 15,598,331 (+)NCBI
GRCh371215,475,191 - 15,751,265 (+)ENTREZGENE
Build 361215,590,553 - 15,641,602 (+)NCBI Archive
HuRef1215,244,485 - 15,520,600 (+)ENTREZGENE
CHM1_11215,665,248 - 15,717,221 (+)NCBI
Sequence:
RefSeq Acc Id: NM_030671   ⟹   NP_109596
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,546,611 - 15,598,331 (+)NCBI
GRCh371215,475,191 - 15,751,265 (+)ENTREZGENE
Build 361215,590,553 - 15,641,602 (+)NCBI Archive
HuRef1215,244,485 - 15,520,600 (+)ENTREZGENE
CHM1_11215,665,248 - 15,717,221 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017019725   ⟹   XP_016875214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,322,334 - 15,578,844 (+)NCBI
Sequence:
RefSeq Acc Id: XR_931316
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,322,334 - 15,598,331 (+)NCBI
Sequence:
RefSeq Acc Id: XR_931318
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,546,356 - 15,598,331 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_109592   ⟸   NM_030667
- Peptide Label: isoform a precursor
- UniProtKB: Q16827 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002839   ⟸   NM_002848
- Peptide Label: isoform b precursor
- UniProtKB: Q16827 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_109596   ⟸   NM_030671
- Peptide Label: isoform c
- UniProtKB: Q16827 (UniProtKB/Swiss-Prot),   A0A024RAS9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_109594   ⟸   NM_030669
- Peptide Label: isoform c
- UniProtKB: Q16827 (UniProtKB/Swiss-Prot),   A0A024RAS9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_109595   ⟸   NM_030670
- Peptide Label: isoform d
- UniProtKB: Q16827 (UniProtKB/Swiss-Prot),   A0A024RAS0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_109593   ⟸   NM_030668
- Peptide Label: isoform d
- UniProtKB: Q16827 (UniProtKB/Swiss-Prot),   A0A024RAS0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875214   ⟸   XM_017019725
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000437571   ⟸   ENST00000542557
RefSeq Acc Id: ENSP00000501378   ⟸   ENST00000674352
RefSeq Acc Id: ENSP00000501352   ⟸   ENST00000674316
RefSeq Acc Id: ENSP00000501540   ⟸   ENST00000674385
RefSeq Acc Id: ENSP00000501494   ⟸   ENST00000674388
RefSeq Acc Id: ENSP00000501451   ⟸   ENST00000674391
RefSeq Acc Id: ENSP00000501384   ⟸   ENST00000674220
RefSeq Acc Id: ENSP00000501538   ⟸   ENST00000674261
RefSeq Acc Id: ENSP00000501361   ⟸   ENST00000674286
RefSeq Acc Id: ENSP00000501325   ⟸   ENST00000674188
RefSeq Acc Id: ENSP00000444173   ⟸   ENST00000543886
RefSeq Acc Id: ENSP00000439234   ⟸   ENST00000544244
RefSeq Acc Id: ENSP00000501413   ⟸   ENST00000544706
RefSeq Acc Id: ENSP00000281171   ⟸   ENST00000281171
RefSeq Acc Id: ENSP00000343434   ⟸   ENST00000348962
RefSeq Acc Id: ENSP00000446201   ⟸   ENST00000535322
RefSeq Acc Id: ENSP00000445621   ⟸   ENST00000535311
RefSeq Acc Id: ENSP00000404188   ⟸   ENST00000442921
RefSeq Acc Id: ENSP00000393449   ⟸   ENST00000445537
Promoters
RGD ID:7223321
Promoter ID:EPDNEW_H17406
Type:initiation region
Name:PTPRO_2
Description:protein tyrosine phosphatase, receptor type O
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17407  EPDNEW_H17409  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,322,331 - 15,322,391EPDNEW
RGD ID:7223323
Promoter ID:EPDNEW_H17407
Type:initiation region
Name:PTPRO_1
Description:protein tyrosine phosphatase, receptor type O
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17406  EPDNEW_H17409  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,322,508 - 15,322,568EPDNEW
RGD ID:7223329
Promoter ID:EPDNEW_H17409
Type:initiation region
Name:PTPRO_3
Description:protein tyrosine phosphatase, receptor type O
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17406  EPDNEW_H17407  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381215,546,392 - 15,546,452EPDNEW
RGD ID:6790401
Promoter ID:HG_KWN:15124
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_030668,   NM_030669,   NM_030670,   NM_030671
Position:
Human AssemblyChrPosition (strand)Source
Build 361215,590,519 - 15,591,019 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_030667.3(PTPRO):c.2627+1G>T single nucleotide variant Nephrotic syndrome, type 6 [RCV000023015] Chr12:15557524 [GRCh38]
Chr12:15710458 [GRCh37]
Chr12:12p12.3
pathogenic
NM_030667.3(PTPRO):c.2829+1G>A single nucleotide variant Nephrotic syndrome, type 6 [RCV000023016] Chr12:15569499 [GRCh38]
Chr12:15722433 [GRCh37]
Chr12:12p12.3
pathogenic
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 12p13.33-12.1(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 12p13.33-11.1(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
NM_030667.2(PTPRO):c.2560G>A (p.Glu854Lys) single nucleotide variant Malignant melanoma [RCV000062460]|Malignant melanoma of skin [RCV000149664] Chr12:15557456 [GRCh38]
Chr12:15710390 [GRCh37]
Chr12:15601657 [NCBI36]
Chr12:12p12.3
not provided
NM_030667.2(PTPRO):c.2814T>G (p.Phe938Leu) single nucleotide variant Malignant melanoma [RCV000062461]|Malignant melanoma of skin [RCV000149665] Chr12:15569483 [GRCh38]
Chr12:15722417 [GRCh37]
Chr12:15613684 [NCBI36]
Chr12:12p12.3
not provided
NM_030667.2(PTPRO):c.3363C>T (p.Val1121=) single nucleotide variant Malignant melanoma [RCV000062462] Chr12:15587004 [GRCh38]
Chr12:15739938 [GRCh37]
Chr12:15631205 [NCBI36]
Chr12:12p12.3
not provided
NM_030667.2(PTPRO):c.3364C>T (p.Arg1122Ter) single nucleotide variant Malignant melanoma [RCV000062463]|Malignant melanoma of skin [RCV000149667] Chr12:15587005 [GRCh38]
Chr12:15739939 [GRCh37]
Chr12:15631206 [NCBI36]
Chr12:12p12.3
not provided
NM_030667.2(PTPRO):c.75+43564A>G single nucleotide variant Lung cancer [RCV000110819] Chr12:15366365 [GRCh38]
Chr12:15519299 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_030667.2(PTPRO):c.76-53311A>T single nucleotide variant Lung cancer [RCV000110820] Chr12:15430663 [GRCh38]
Chr12:15583597 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_030667.2(PTPRO):c.76-1932G>T single nucleotide variant Lung cancer [RCV000110821] Chr12:15482042 [GRCh38]
Chr12:15634976 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_030667.2(PTPRO):c.839C>A (p.Ser280Tyr) single nucleotide variant Malignant melanoma of skin [RCV000149658] Chr12:15501797 [GRCh38]
Chr12:15654731 [GRCh37]
not provided
NM_030667.1:c.1106-9T>A single nucleotide variant Malignant melanoma of skin [RCV000149659] Chr12:12p12.3 not provided
NM_030667.3(PTPRO):c.1110C>G (p.Asn370Lys) single nucleotide variant not provided [RCV001755353] Chr12:15503912 [GRCh38]
Chr12:15656846 [GRCh37]
Chr12:12p12.3
likely benign|not provided
NM_030667.2(PTPRO):c.2302C>T (p.Gln768Ter) single nucleotide variant Malignant melanoma of skin [RCV000149662] Chr12:15546706 [GRCh38]
Chr12:15699640 [GRCh37]
not provided
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 12p13.33-11.1(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-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 12p13.33-11.1(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 12p12.3(chr12:15592098-16120442)x3 copy number gain See cases [RCV000139544] Chr12:15592098..16120442 [GRCh38]
Chr12:15745032..16273376 [GRCh37]
Chr12:15636299..16164643 [NCBI36]
Chr12:12p12.3
likely benign
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
NM_030667.2(PTPRO):c.1444G>A (p.Glu482Lys) single nucleotide variant Malignant melanoma of skin [RCV000149661] Chr12:15508747 [GRCh38]
Chr12:15661681 [GRCh37]
not provided
NM_030667.2(PTPRO):c.2321C>T (p.Ser774Phe) single nucleotide variant Malignant melanoma of skin [RCV000149663] Chr12:15549110 [GRCh38]
Chr12:15702044 [GRCh37]
not provided
NM_030667.2(PTPRO):c.3223G>A (p.Asp1075Asn) single nucleotide variant Malignant melanoma of skin [RCV000149666] Chr12:15581769 [GRCh38]
Chr12:15734703 [GRCh37]
not provided
NM_030667.2(PTPRO):c.3506C>T (p.Ser1169Leu) single nucleotide variant Malignant melanoma of skin [RCV000149668] Chr12:15589550 [GRCh38]
Chr12:15742484 [GRCh37]
not provided
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 Ductal breast carcinoma [RCV000207105] Chr12:10074776..18800953 [GRCh37]
Chr12:12p13.31-12.3
uncertain significance
NM_030667.3(PTPRO):c.948_951dup (p.Pro318fs) duplication not provided [RCV000722228] Chr12:15501904..15501905 [GRCh38]
Chr12:15654838..15654839 [GRCh37]
Chr12:12p12.3
uncertain significance
GRCh37/hg19 12p12.3(chr12:15034827-15677320)x1 copy number loss See cases [RCV000240366] Chr12:15034827..15677320 [GRCh37]
Chr12:12p12.3
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 12p13.33-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 12p13.33-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
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
NM_030667.3(PTPRO):c.2438-335G>A single nucleotide variant not provided [RCV001691675] Chr12:15551216 [GRCh38]
Chr12:15704150 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2712-140_2712-139insTTAA insertion not provided [RCV001648628] Chr12:15565450..15565451 [GRCh38]
Chr12:15718384..15718385 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1586-144A>G single nucleotide variant not provided [RCV001679398] Chr12:15516619 [GRCh38]
Chr12:15669553 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1268-263A>G single nucleotide variant not provided [RCV001680805] Chr12:15508308 [GRCh38]
Chr12:15661242 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.3411-64_3411-63del deletion not provided [RCV001680922] Chr12:15589380..15589381 [GRCh38]
Chr12:15742314..15742315 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2304+130C>G single nucleotide variant not provided [RCV001707366] Chr12:15546838 [GRCh38]
Chr12:15699772 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1586-152_1586-145dup duplication not provided [RCV001668742] Chr12:15516606..15516607 [GRCh38]
Chr12:15669540..15669541 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2100C>T (p.Asn700=) single nucleotide variant not provided [RCV000957668] Chr12:15526198 [GRCh38]
Chr12:15679132 [GRCh37]
Chr12:12p12.3
benign|likely benign
NM_030667.3(PTPRO):c.663C>T (p.Ala221=) single nucleotide variant not provided [RCV000905004] Chr12:15501621 [GRCh38]
Chr12:15654555 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.1572G>A (p.Val524=) single nucleotide variant not provided [RCV000912573] Chr12:15515605 [GRCh38]
Chr12:15668539 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.3222C>T (p.Asp1074=) single nucleotide variant not provided [RCV000912948] Chr12:15581768 [GRCh38]
Chr12:15734702 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2256T>C (p.Phe752=) single nucleotide variant not provided [RCV000881643] Chr12:15546660 [GRCh38]
Chr12:15699594 [GRCh37]
Chr12:12p12.3
benign|likely benign
NM_030667.3(PTPRO):c.2829+8G>A single nucleotide variant not provided [RCV000881644] Chr12:15569506 [GRCh38]
Chr12:15722440 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.3470G>A (p.Arg1157Gln) single nucleotide variant not provided [RCV000882217] Chr12:15589514 [GRCh38]
Chr12:15742448 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2164+10G>A single nucleotide variant not provided [RCV000932888] Chr12:15526272 [GRCh38]
Chr12:15679206 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.1327G>A (p.Val443Ile) single nucleotide variant not provided [RCV000953461] Chr12:15508630 [GRCh38]
Chr12:15661564 [GRCh37]
Chr12:12p12.3
benign|likely benign
NM_030667.3(PTPRO):c.1465-9G>T single nucleotide variant not provided [RCV000954866] Chr12:15515489 [GRCh38]
Chr12:15668423 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.1776C>T (p.Ser592=) single nucleotide variant not provided [RCV000970473] Chr12:15516953 [GRCh38]
Chr12:15669887 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1973C>T (p.Thr658Met) single nucleotide variant not provided [RCV000827062] Chr12:15524895 [GRCh38]
Chr12:15677829 [GRCh37]
Chr12:12p12.3
likely benign
GRCh37/hg19 12p12.3(chr12:15745414-15961746)x3 copy number gain not provided [RCV000849630] Chr12:15745414..15961746 [GRCh37]
Chr12:12p12.3
uncertain significance
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 12p12.3(chr12:15630989-16090925)x3 copy number gain not provided [RCV000847632] Chr12:15630989..16090925 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_030667.3(PTPRO):c.1586-244AAAAG[4] microsatellite not provided [RCV001638700] Chr12:15516518..15516519 [GRCh38]
Chr12:15669452..15669453 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1586-200G>A single nucleotide variant not provided [RCV001596244] Chr12:15516563 [GRCh38]
Chr12:15669497 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2830-63_2830-62insG insertion not provided [RCV001615894] Chr12:15578790..15578791 [GRCh38]
Chr12:15731724..15731725 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2628-70A>G single nucleotide variant not provided [RCV001598894] Chr12:15560123 [GRCh38]
Chr12:15713057 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.661+123T>C single nucleotide variant not provided [RCV001648626] Chr12:15499717 [GRCh38]
Chr12:15652651 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2164+12G>A single nucleotide variant not provided [RCV001672122] Chr12:15526274 [GRCh38]
Chr12:15679208 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.3133-327G>T single nucleotide variant not provided [RCV001639216] Chr12:15581352 [GRCh38]
Chr12:15734286 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1586-283AG[2] microsatellite not provided [RCV001611800] Chr12:15516480..15516483 [GRCh38]
Chr12:15669414..15669417 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2088C>A (p.Gly696=) single nucleotide variant not provided [RCV001670886] Chr12:15526186 [GRCh38]
Chr12:15679120 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.3410+309C>A single nucleotide variant not provided [RCV001683768] Chr12:15587360 [GRCh38]
Chr12:15740294 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2830-254T>C single nucleotide variant not provided [RCV001537563] Chr12:15578599 [GRCh38]
Chr12:15731533 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.682A>G (p.Ile228Val) single nucleotide variant not provided [RCV000879324] Chr12:15501640 [GRCh38]
Chr12:15654574 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.3546+10T>C single nucleotide variant not provided [RCV000906861] Chr12:15589600 [GRCh38]
Chr12:15742534 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2841G>A (p.Leu947=) single nucleotide variant not provided [RCV000952978] Chr12:15578864 [GRCh38]
Chr12:15731798 [GRCh37]
Chr12:12p12.3
benign|likely benign
NM_030667.3(PTPRO):c.3547-132A>G single nucleotide variant not provided [RCV001766309] Chr12:15594805 [GRCh38]
Chr12:15747739 [GRCh37]
Chr12:12p12.3
likely benign
GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4 copy number gain not provided [RCV001006470] Chr12:274676..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
NM_030667.3(PTPRO):c.2305-176G>A single nucleotide variant not provided [RCV001594687] Chr12:15548918 [GRCh38]
Chr12:15701852 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.3133-134_3133-133insGTATT insertion not provided [RCV001660879] Chr12:15581543..15581544 [GRCh38]
Chr12:15734477..15734478 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.3255+321A>C single nucleotide variant not provided [RCV001595366] Chr12:15582122 [GRCh38]
Chr12:15735056 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1780-32C>T single nucleotide variant not provided [RCV001643607] Chr12:15520169 [GRCh38]
Chr12:15673103 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.108T>C (p.Asp36=) single nucleotide variant not provided [RCV001620591] Chr12:15484006 [GRCh38]
Chr12:15636940 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.509-156A>G single nucleotide variant not provided [RCV001530676] Chr12:15499286 [GRCh38]
Chr12:15652220 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1586-112T>G single nucleotide variant not provided [RCV001654125] Chr12:15516651 [GRCh38]
Chr12:15669585 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1268-231G>A single nucleotide variant not provided [RCV001596819] Chr12:15508340 [GRCh38]
Chr12:15661274 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2438-60G>T single nucleotide variant not provided [RCV001596682] Chr12:15551491 [GRCh38]
Chr12:15704425 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1465-280G>A single nucleotide variant not provided [RCV001595476] Chr12:15515218 [GRCh38]
Chr12:15668152 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2997+67T>A single nucleotide variant not provided [RCV001720908] Chr12:15580182 [GRCh38]
Chr12:15733116 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.349+211C>A single nucleotide variant not provided [RCV001619387] Chr12:15484458 [GRCh38]
Chr12:15637392 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.509-46T>C single nucleotide variant not provided [RCV001636515] Chr12:15499396 [GRCh38]
Chr12:15652330 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.3255+65G>A single nucleotide variant not provided [RCV001621555] Chr12:15581866 [GRCh38]
Chr12:15734800 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2829+123A>G single nucleotide variant not provided [RCV001617550] Chr12:15569621 [GRCh38]
Chr12:15722555 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1105+160T>G single nucleotide variant not provided [RCV001670852] Chr12:15502223 [GRCh38]
Chr12:15655157 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1779+290A>C single nucleotide variant not provided [RCV001676334] Chr12:15517246 [GRCh38]
Chr12:15670180 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2830-248T>C single nucleotide variant not provided [RCV001618203] Chr12:15578605 [GRCh38]
Chr12:15731539 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2043+239A>G single nucleotide variant not provided [RCV001638203] Chr12:15525204 [GRCh38]
Chr12:15678138 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.3255+320C>A single nucleotide variant not provided [RCV001650723] Chr12:15582121 [GRCh38]
Chr12:15735055 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1268-281A>T single nucleotide variant not provided [RCV001678296] Chr12:15508290 [GRCh38]
Chr12:15661224 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2830-43C>T single nucleotide variant not provided [RCV001635843] Chr12:15578810 [GRCh38]
Chr12:15731744 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1586-144_1586-143insGGAAGGG insertion not provided [RCV001610878] Chr12:15516619..15516620 [GRCh38]
Chr12:15669553..15669554 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1586-145dup duplication not provided [RCV001707112] Chr12:15516616..15516617 [GRCh38]
Chr12:15669550..15669551 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1268-64A>G single nucleotide variant not provided [RCV001685711] Chr12:15508507 [GRCh38]
Chr12:15661441 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.3411-63del deletion not provided [RCV001707146] Chr12:15589380 [GRCh38]
Chr12:15742314 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.349+155C>T single nucleotide variant not provided [RCV001541583] Chr12:15484402 [GRCh38]
Chr12:15637336 [GRCh37]
Chr12:12p12.3
benign
Single allele single nucleotide variant not provided [RCV001684060] Chr12:15322293 [GRCh38]
Chr12:15475227 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.3036G>A (p.Gly1012=) single nucleotide variant not provided [RCV001671236] Chr12:15580735 [GRCh38]
Chr12:15733669 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2997+200A>T single nucleotide variant not provided [RCV001534052] Chr12:15580315 [GRCh38]
Chr12:15733249 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.3255+83C>T single nucleotide variant not provided [RCV001668669] Chr12:15581884 [GRCh38]
Chr12:15734818 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.350-280T>C single nucleotide variant not provided [RCV001527815] Chr12:15496965 [GRCh38]
Chr12:15649899 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1464+284G>A single nucleotide variant not provided [RCV001690557] Chr12:15509051 [GRCh38]
Chr12:15661985 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.349+219T>G single nucleotide variant not provided [RCV001669716] Chr12:15484466 [GRCh38]
Chr12:15637400 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2305-21C>T single nucleotide variant not provided [RCV001651627] Chr12:15549073 [GRCh38]
Chr12:15702007 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2747+199A>G single nucleotide variant not provided [RCV001641559] Chr12:15565827 [GRCh38]
Chr12:15718761 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.3497G>C (p.Gly1166Ala) single nucleotide variant Corticosteroids response [RCV001261438] Chr12:15589541 [GRCh38]
Chr12:15742475 [GRCh37]
Chr12:12p12.3
drug response
NM_030667.3(PTPRO):c.1626T>C (p.Gly542=) single nucleotide variant not provided [RCV001676023]|not specified [RCV001528650] Chr12:15516803 [GRCh38]
Chr12:15669737 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1106-10T>A single nucleotide variant Corticosteroids response [RCV001261437]|not provided [RCV001683757]|not specified [RCV001528296] Chr12:15503898 [GRCh38]
Chr12:15656832 [GRCh37]
Chr12:12p12.3
benign|drug response
NM_030667.3(PTPRO):c.1733C>T (p.Thr578Ile) single nucleotide variant Nephrotic syndrome, type 6 [RCV001330074] Chr12:15516910 [GRCh38]
Chr12:15669844 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_030667.3(PTPRO):c.1792C>G (p.Leu598Val) single nucleotide variant Nephrotic syndrome, type 6 [RCV001334288] Chr12:15520213 [GRCh38]
Chr12:15673147 [GRCh37]
Chr12:12p12.3
uncertain significance
NM_030667.3(PTPRO):c.3132+147A>C single nucleotide variant not provided [RCV001666418] Chr12:15580978 [GRCh38]
Chr12:15733912 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2829+243C>T single nucleotide variant not provided [RCV001682304] Chr12:15569741 [GRCh38]
Chr12:15722675 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2559-119C>G single nucleotide variant not provided [RCV001693737] Chr12:15557336 [GRCh38]
Chr12:15710270 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2921-18T>C single nucleotide variant not provided [RCV001688523] Chr12:15580021 [GRCh38]
Chr12:15732955 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2043+93A>T single nucleotide variant not provided [RCV001687241] Chr12:15525058 [GRCh38]
Chr12:15677992 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.662-165T>C single nucleotide variant not provided [RCV001615917] Chr12:15501455 [GRCh38]
Chr12:15654389 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1464+269T>A single nucleotide variant not provided [RCV001684719] Chr12:15509036 [GRCh38]
Chr12:15661970 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.1779+298T>C single nucleotide variant not provided [RCV001682106] Chr12:15517254 [GRCh38]
Chr12:15670188 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.*16+29C>T single nucleotide variant not provided [RCV001671806] Chr12:15595086 [GRCh38]
Chr12:15748020 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.3255+226T>C single nucleotide variant not provided [RCV001647816] Chr12:15582027 [GRCh38]
Chr12:15734961 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.661+284T>C single nucleotide variant not provided [RCV001696338] Chr12:15499878 [GRCh38]
Chr12:15652812 [GRCh37]
Chr12:12p12.3
benign
NM_030667.3(PTPRO):c.2712-2del deletion not provided [RCV001379852] Chr12:15565591 [GRCh38]
Chr12:15718525 [GRCh37]
Chr12:12p12.3
likely pathogenic
NM_030667.3(PTPRO):c.1892-173_1892-172insCTTGTTGTA insertion not provided [RCV001759135] Chr12:15524640..15524641 [GRCh38]
Chr12:15677574..15677575 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2997+223G>A single nucleotide variant not provided [RCV001768036] Chr12:15580338 [GRCh38]
Chr12:15733272 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.1892-177_1892-176insTAT insertion not provided [RCV001768103] Chr12:15524637..15524638 [GRCh38]
Chr12:15677571..15677572 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.508+19G>A single nucleotide variant not provided [RCV001769520] Chr12:15497422 [GRCh38]
Chr12:15650356 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2712-92T>A single nucleotide variant not provided [RCV001774996] Chr12:15565501 [GRCh38]
Chr12:15718435 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2748-273T>C single nucleotide variant not provided [RCV001774998] Chr12:15569144 [GRCh38]
Chr12:15722078 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.1464+278G>A single nucleotide variant not provided [RCV001769800] Chr12:15509045 [GRCh38]
Chr12:15661979 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2998-204A>C single nucleotide variant not provided [RCV001769955] Chr12:15580493 [GRCh38]
Chr12:15733427 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2165-5C>A single nucleotide variant not provided [RCV001767939] Chr12:15546564 [GRCh38]
Chr12:15699498 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.3410+248T>C single nucleotide variant not provided [RCV001769804] Chr12:15587299 [GRCh38]
Chr12:15740233 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.3256-168dup duplication not provided [RCV001769809] Chr12:15586719..15586720 [GRCh38]
Chr12:15739653..15739654 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2712-157T>C single nucleotide variant not provided [RCV001769915] Chr12:15565436 [GRCh38]
Chr12:15718370 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2748-105C>T single nucleotide variant not provided [RCV001774997] Chr12:15569312 [GRCh38]
Chr12:15722246 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.1892-58G>A single nucleotide variant not provided [RCV001759136] Chr12:15524756 [GRCh38]
Chr12:15677690 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2438-199C>G single nucleotide variant not provided [RCV001759182] Chr12:15551352 [GRCh38]
Chr12:15704286 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2558+328A>T single nucleotide variant not provided [RCV001759184] Chr12:15551999 [GRCh38]
Chr12:15704933 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2165-266T>G single nucleotide variant not provided [RCV001759325] Chr12:15546303 [GRCh38]
Chr12:15699237 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2043+151G>A single nucleotide variant not provided [RCV001759137] Chr12:15525116 [GRCh38]
Chr12:15678050 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2997+227A>G single nucleotide variant not provided [RCV001759186] Chr12:15580342 [GRCh38]
Chr12:15733276 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.1586-124G>A single nucleotide variant not provided [RCV001753062] Chr12:15516639 [GRCh38]
Chr12:15669573 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.3411-76G>A single nucleotide variant not provided [RCV001768094] Chr12:15589379 [GRCh38]
Chr12:15742313 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.3546+130A>G single nucleotide variant not provided [RCV001769522] Chr12:15589720 [GRCh38]
Chr12:15742654 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.1586-241del deletion not provided [RCV001769521] Chr12:15516518 [GRCh38]
Chr12:15669452 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2044-241A>C single nucleotide variant not provided [RCV001769824] Chr12:15525901 [GRCh38]
Chr12:15678835 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2437+19_2437+20insAAA insertion not provided [RCV001759183] Chr12:15549245..15549246 [GRCh38]
Chr12:15702179..15702180 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2437+24A>T single nucleotide variant not provided [RCV001759185] Chr12:15549250 [GRCh38]
Chr12:15702184 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.1585+90G>A single nucleotide variant not provided [RCV001767940] Chr12:15515708 [GRCh38]
Chr12:15668642 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.3411-155C>T single nucleotide variant not provided [RCV001768035] Chr12:15589300 [GRCh38]
Chr12:15742234 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.2437+20_2437+21insCTGGTCTTTGGAAGTTCTTTCCATATTTTTTTCC insertion not provided [RCV001768157] Chr12:15549246..15549247 [GRCh38]
Chr12:15702180..15702181 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.3132+133G>A single nucleotide variant not provided [RCV001776605] Chr12:15580964 [GRCh38]
Chr12:15733898 [GRCh37]
Chr12:12p12.3
likely benign
NM_030667.3(PTPRO):c.76-109A>G single nucleotide variant not provided [RCV001757283] Chr12:15483865 [GRCh38]
Chr12:15636799 [GRCh37]
Chr12:12p12.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9678 AgrOrtholog
COSMIC PTPRO COSMIC
Ensembl Genes ENSG00000151490 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000281171 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000343434 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000393449 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000404188 UniProtKB/Swiss-Prot
  ENSP00000437571 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000439234 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000444173 UniProtKB/Swiss-Prot
  ENSP00000445621 UniProtKB/TrEMBL
  ENSP00000446201 UniProtKB/TrEMBL
  ENSP00000501325 UniProtKB/TrEMBL
  ENSP00000501352 UniProtKB/Swiss-Prot
  ENSP00000501361 UniProtKB/TrEMBL
  ENSP00000501378 UniProtKB/TrEMBL
  ENSP00000501384 UniProtKB/TrEMBL
  ENSP00000501413 UniProtKB/TrEMBL
  ENSP00000501451 UniProtKB/TrEMBL
  ENSP00000501494 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501538 UniProtKB/Swiss-Prot
  ENSP00000501540 UniProtKB/TrEMBL
Ensembl Transcript ENST00000281171 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000348962 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000442921 UniProtKB/Swiss-Prot
  ENST00000445537 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000535311 UniProtKB/TrEMBL
  ENST00000535322 UniProtKB/TrEMBL
  ENST00000542557 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000543886 UniProtKB/Swiss-Prot
  ENST00000544244 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000544706 UniProtKB/TrEMBL
  ENST00000674188 UniProtKB/TrEMBL
  ENST00000674220 UniProtKB/TrEMBL
  ENST00000674261 UniProtKB/Swiss-Prot
  ENST00000674286 UniProtKB/TrEMBL
  ENST00000674316 UniProtKB/Swiss-Prot
  ENST00000674352 UniProtKB/TrEMBL
  ENST00000674385 UniProtKB/TrEMBL
  ENST00000674388 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000674391 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.190.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000151490 GTEx
HGNC ID HGNC:9678 ENTREZGENE
Human Proteome Map PTPRO Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot-tyrosine_phosphatase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPase_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPRO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tyr_Pase_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5800 UniProtKB/Swiss-Prot
NCBI Gene 5800 ENTREZGENE
OMIM 600579 OMIM
  614196 OMIM
PANTHER PTHR47028 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam fn3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Y_phosphatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34023 PharmGKB
PRINTS PRTYPHPHTASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYR_PHOSPHATASE_PTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTPc_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52799 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RAS0 ENTREZGENE, UniProtKB/TrEMBL
  A0A024RAS9 ENTREZGENE, UniProtKB/TrEMBL
  A0A6I8PIM6_HUMAN UniProtKB/TrEMBL
  A0A6I8PL17_HUMAN UniProtKB/TrEMBL
  A0A6I8PRB8_HUMAN UniProtKB/TrEMBL
  A0A6I8PRG8_HUMAN UniProtKB/TrEMBL
  A0A6I8PRZ5_HUMAN UniProtKB/TrEMBL
  A0A6I8PS48_HUMAN UniProtKB/TrEMBL
  A0A6I8PU14_HUMAN UniProtKB/TrEMBL
  H0YH11_HUMAN UniProtKB/TrEMBL
  H0YH60_HUMAN UniProtKB/TrEMBL
  PTPRO_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0AV39 UniProtKB/Swiss-Prot
  Q13101 UniProtKB/Swiss-Prot
  Q8IYG3 UniProtKB/Swiss-Prot
  Q9UBF0 UniProtKB/Swiss-Prot
  Q9UBT5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 PTPRO  protein tyrosine phosphatase receptor type O    protein tyrosine phosphatase, receptor type O  Symbol and/or name change 5135510 APPROVED
2016-01-12 PTPRO  protein tyrosine phosphatase, receptor type O    protein tyrosine phosphatase, receptor type, O  Symbol and/or name change 5135510 APPROVED