PPIE (peptidylprolyl isomerase E) - Rat Genome Database

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Gene: PPIE (peptidylprolyl isomerase E) Homo sapiens
Analyze
Symbol: PPIE
Name: peptidylprolyl isomerase E
RGD ID: 1322860
HGNC Page HGNC:9258
Description: Enables mRNA binding activity; peptidyl-prolyl cis-trans isomerase activity; and poly(A) binding activity. Involved in mRNA splicing, via spliceosome; positive regulation of viral genome replication; and regulation of DNA-templated transcription. Located in cytosol and nuclear speck. Part of U2-type catalytic step 2 spliceosome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cyclophilin 33; cyclophilin E; cyclophilin-33; CYP-33; CYP33; CypE; MGC111222; MGC3736; peptidyl-prolyl cis-trans isomerase E; peptidylprolyl isomerase E (cyclophilin E); peptidylprolyl isomerase E, isoform 1; PPIase E; rotamase E
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PPIEL  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38139,738,882 - 39,763,914 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl139,692,182 - 39,763,914 (+)EnsemblGRCh38hg38GRCh38
GRCh37140,204,554 - 40,229,586 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36139,977,117 - 40,002,173 (+)NCBINCBI36Build 36hg18NCBI36
Build 34139,873,622 - 39,888,471NCBI
Celera138,486,281 - 38,511,350 (+)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef138,323,206 - 38,348,301 (+)NCBIHuRef
CHM1_1140,319,960 - 40,345,027 (+)NCBICHM1_1
T2T-CHM13v2.0139,608,324 - 39,633,355 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Splicing and beyond: the many faces of the Prp19 complex. Chanarat S and Strasser K, Biochim Biophys Acta. 2013 Oct;1833(10):2126-34. doi: 10.1016/j.bbamcr.2013.05.023. Epub 2013 Jun 3.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Spliceosomal immunophilins. Mesa A, etal., FEBS Lett. 2008 Jul 9;582(16):2345-51. doi: 10.1016/j.febslet.2008.06.006. Epub 2008 Jun 9.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:8977107   PMID:9747881   PMID:11313484   PMID:11976948   PMID:11991638   PMID:12477932   PMID:14702039   PMID:15489334   PMID:15963461   PMID:16169070   PMID:16189514  
PMID:16344560   PMID:16710414   PMID:17207965   PMID:18258190   PMID:18676843   PMID:19932913   PMID:20360068   PMID:20460131   PMID:20532202   PMID:20541251   PMID:20676357   PMID:20677832  
PMID:21873635   PMID:21887220   PMID:22365833   PMID:22379092   PMID:22658674   PMID:22939629   PMID:23084401   PMID:24457600   PMID:24981860   PMID:25416956   PMID:25505242   PMID:25599396  
PMID:26186194   PMID:26344197   PMID:26496610   PMID:26627737   PMID:27684187   PMID:28076346   PMID:28302793   PMID:28514442   PMID:28515276   PMID:28611215   PMID:29229926   PMID:29298432  
PMID:29395067   PMID:29773831   PMID:30021884   PMID:30033366   PMID:30389953   PMID:30404004   PMID:30890647   PMID:31091453   PMID:31391242   PMID:31527615   PMID:31839598   PMID:32203420  
PMID:32296183   PMID:32814053   PMID:33306668   PMID:33606679   PMID:33957083   PMID:33961781   PMID:34108663   PMID:34133714   PMID:34349018   PMID:34373451   PMID:34799561   PMID:35013218  
PMID:35253629   PMID:35271311   PMID:36215168   PMID:36526897   PMID:37071682   PMID:37075125   PMID:37100772   PMID:37689310   PMID:39238192  


Genomics

Comparative Map Data
PPIE
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38139,738,882 - 39,763,914 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl139,692,182 - 39,763,914 (+)EnsemblGRCh38hg38GRCh38
GRCh37140,204,554 - 40,229,586 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36139,977,117 - 40,002,173 (+)NCBINCBI36Build 36hg18NCBI36
Build 34139,873,622 - 39,888,471NCBI
Celera138,486,281 - 38,511,350 (+)NCBICelera
Cytogenetic Map1p34.2NCBI
HuRef138,323,206 - 38,348,301 (+)NCBIHuRef
CHM1_1140,319,960 - 40,345,027 (+)NCBICHM1_1
T2T-CHM13v2.0139,608,324 - 39,633,355 (+)NCBIT2T-CHM13v2.0
Ppie
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394123,020,907 - 123,033,783 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4123,020,908 - 123,033,744 (-)EnsemblGRCm39 Ensembl
GRCm384123,127,114 - 123,139,990 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4123,127,115 - 123,139,951 (-)EnsemblGRCm38mm10GRCm38
MGSCv374122,804,368 - 122,817,184 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364122,629,428 - 122,642,244 (-)NCBIMGSCv36mm8
Celera4121,458,036 - 121,470,830 (-)NCBICelera
Cytogenetic Map4D2.2NCBI
cM Map457.39NCBI
Ppie
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85140,691,285 - 140,704,347 (-)NCBIGRCr8
mRatBN7.25135,406,172 - 135,419,332 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5135,406,176 - 135,419,235 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5138,112,881 - 138,125,632 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05139,882,852 - 139,895,603 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05139,889,979 - 139,902,730 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05140,822,141 - 140,835,244 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5140,822,141 - 140,834,959 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05144,612,621 - 144,625,724 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45142,445,476 - 142,455,367 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15142,447,283 - 142,460,331 (-)NCBI
Celera5133,948,954 - 133,958,845 (-)NCBICelera
Cytogenetic Map5q36NCBI
Ppie
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545217,242,286 - 17,254,860 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545217,242,255 - 17,256,776 (+)NCBIChiLan1.0ChiLan1.0
PPIE
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21187,057,737 - 187,129,294 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11186,195,378 - 186,267,325 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0139,029,412 - 39,054,500 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1140,355,598 - 40,373,495 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl140,355,598 - 40,380,472 (+)Ensemblpanpan1.1panPan2
PPIE
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1153,156,067 - 3,173,028 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl153,153,628 - 3,172,988 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha153,412,962 - 3,429,449 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0153,274,186 - 3,290,772 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl153,271,923 - 3,290,799 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1153,150,413 - 3,166,970 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0153,211,469 - 3,228,010 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0153,227,023 - 3,243,593 (-)NCBIUU_Cfam_GSD_1.0
Ppie
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505855,777,744 - 55,792,075 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647421,602,521 - 21,619,655 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647421,602,555 - 21,616,857 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPIE
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl695,548,652 - 95,579,964 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1695,548,582 - 95,566,470 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2688,636,947 - 88,652,062 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PPIE
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12093,345,338 - 93,360,739 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2093,345,400 - 93,360,398 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603323,687,722 - 23,703,115 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ppie
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476422,222,047 - 22,237,113 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476422,222,103 - 22,237,113 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PPIE
41 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)x3 copy number gain See cases [RCV000051815] Chr1:39360747..40900817 [GRCh38]
Chr1:39826419..41366489 [GRCh37]
Chr1:39599006..41139076 [NCBI36]
Chr1:1p34.3-34.2
pathogenic
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33
pathogenic
GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3 copy number gain See cases [RCV000051803] Chr1:38222737..45636176 [GRCh38]
Chr1:38688409..46101848 [GRCh37]
Chr1:38460996..45874435 [NCBI36]
Chr1:1p34.3-34.1
pathogenic
GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1 copy number loss See cases [RCV000053805] Chr1:38108665..42327551 [GRCh38]
Chr1:38574337..42793222 [GRCh37]
Chr1:38346924..42565809 [NCBI36]
Chr1:1p34.3-34.2
pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2
pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12
likely benign
NM_001720.5(BMP8B):c.1075C>A (p.Pro359Thr) single nucleotide variant not specified [RCV004273692] Chr1:39760553 [GRCh38]
Chr1:40226225 [GRCh37]
Chr1:1p34.2
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1
uncertain significance
GRCh37/hg19 1p34.3-34.2(chr1:40097132-40236108)x3 copy number gain not provided [RCV000709854] Chr1:40097132..40236108 [GRCh37]
Chr1:1p34.3-34.2
not provided
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p34.2(chr1:40168865-40315888)x3 copy number gain not provided [RCV000736470] Chr1:40168865..40315888 [GRCh37]
Chr1:1p34.2
benign
NM_001720.5(BMP8B):c.1059+10A>G single nucleotide variant not provided [RCV000961002] Chr1:39763082 [GRCh38]
Chr1:40228754 [GRCh37]
Chr1:1p34.2
benign
NM_001720.5(BMP8B):c.978G>A (p.Ser326=) single nucleotide variant not provided [RCV000894874] Chr1:39763173 [GRCh38]
Chr1:40228845 [GRCh37]
Chr1:1p34.2
benign|likely benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1
uncertain significance
GRCh37/hg19 1p34.3-34.2(chr1:40007947-40280565)x3 copy number gain not provided [RCV000845719] Chr1:40007947..40280565 [GRCh37]
Chr1:1p34.3-34.2
uncertain significance
NM_001720.5(BMP8B):c.1059+579A>G single nucleotide variant not provided [RCV000952805] Chr1:39762513 [GRCh38]
Chr1:40228185 [GRCh37]
Chr1:1p34.2
benign|likely benign
NM_001720.5(BMP8B):c.978G>C (p.Ser326=) single nucleotide variant not provided [RCV000901304] Chr1:39763173 [GRCh38]
Chr1:40228845 [GRCh37]
Chr1:1p34.2
likely benign
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1
uncertain significance
GRCh37/hg19 1p34.3-34.2(chr1:39340597-40603856)x1 copy number loss not provided [RCV001270633] Chr1:39340597..40603856 [GRCh37]
Chr1:1p34.3-34.2
uncertain significance
GRCh37/hg19 1p34.3-34.2(chr1:38679545-42556292) copy number loss not specified [RCV002053269] Chr1:38679545..42556292 [GRCh37]
Chr1:1p34.3-34.2
likely pathogenic
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33
pathogenic
NM_006112.4(PPIE):c.409C>T (p.Arg137Cys) single nucleotide variant not specified [RCV004098187] Chr1:39745399 [GRCh38]
Chr1:40211071 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.908G>A (p.Arg303Gln) single nucleotide variant not specified [RCV004111761] Chr1:39763752 [GRCh38]
Chr1:40229424 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.133A>G (p.Lys45Glu) single nucleotide variant not specified [RCV004239741] Chr1:39741368 [GRCh38]
Chr1:40207040 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1198G>A (p.Gly400Ser) single nucleotide variant not specified [RCV004200864] Chr1:39760430 [GRCh38]
Chr1:40226102 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.896A>G (p.Gln299Arg) single nucleotide variant not specified [RCV004208554] Chr1:39763764 [GRCh38]
Chr1:40229436 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.755G>A (p.Cys252Tyr) single nucleotide variant not specified [RCV004109540] Chr1:39752970 [GRCh38]
Chr1:40218642 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1094C>T (p.Ala365Val) single nucleotide variant not specified [RCV004080793] Chr1:39760534 [GRCh38]
Chr1:40226206 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.538A>G (p.Lys180Glu) single nucleotide variant not specified [RCV004174710] Chr1:39748932 [GRCh38]
Chr1:40214604 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.518G>A (p.Arg173His) single nucleotide variant not specified [RCV004132633] Chr1:39748912 [GRCh38]
Chr1:40214584 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.620A>G (p.Asn207Ser) single nucleotide variant not specified [RCV004220606] Chr1:39749014 [GRCh38]
Chr1:40214686 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.551T>G (p.Phe184Cys) single nucleotide variant not specified [RCV004169441] Chr1:39748945 [GRCh38]
Chr1:40214617 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.736T>A (p.Ser246Thr) single nucleotide variant not specified [RCV004274191] Chr1:39752951 [GRCh38]
Chr1:40218623 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1031C>T (p.Ala344Val) single nucleotide variant not specified [RCV004264642] Chr1:39763120 [GRCh38]
Chr1:40228792 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.154G>A (p.Val52Ile) single nucleotide variant not specified [RCV004254677] Chr1:39741389 [GRCh38]
Chr1:40207061 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1175G>T (p.Arg392Leu) single nucleotide variant not specified [RCV004350373] Chr1:39760453 [GRCh38]
Chr1:40226125 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.455C>T (p.Pro152Leu) single nucleotide variant not specified [RCV004337750] Chr1:39745445 [GRCh38]
Chr1:40211117 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1055C>A (p.Ser352Tyr) single nucleotide variant not specified [RCV004365715] Chr1:39763096 [GRCh38]
Chr1:40228768 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.589A>G (p.Met197Val) single nucleotide variant not specified [RCV004342618] Chr1:39748983 [GRCh38]
Chr1:40214655 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1095G>A (p.Ala365=) single nucleotide variant not provided [RCV003406391] Chr1:39760533 [GRCh38]
Chr1:40226205 [GRCh37]
Chr1:1p34.2
likely benign
NM_001720.5(BMP8B):c.889G>A (p.Gly297Ser) single nucleotide variant not provided [RCV003406392] Chr1:39763771 [GRCh38]
Chr1:40229443 [GRCh37]
Chr1:1p34.2
likely benign
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3
likely pathogenic
NM_006112.4(PPIE):c.826C>T (p.Arg276Trp) single nucleotide variant not specified [RCV004507037] Chr1:39753041 [GRCh38]
Chr1:40218713 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.233G>A (p.Arg78His) single nucleotide variant not specified [RCV004507034] Chr1:39743247 [GRCh38]
Chr1:40208919 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.546T>G (p.Phe182Leu) single nucleotide variant not specified [RCV004507035] Chr1:39748940 [GRCh38]
Chr1:40214612 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.596A>G (p.Gln199Arg) single nucleotide variant not specified [RCV004507036] Chr1:39748990 [GRCh38]
Chr1:40214662 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1180A>C (p.Met394Leu) single nucleotide variant not specified [RCV004433912] Chr1:39760448 [GRCh38]
Chr1:40226120 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.382G>A (p.Glu128Lys) single nucleotide variant not specified [RCV004664825] Chr1:39743922 [GRCh38]
Chr1:40209594 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.229A>G (p.Ile77Val) single nucleotide variant not specified [RCV004656120] Chr1:39743243 [GRCh38]
Chr1:40208915 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1174C>T (p.Arg392Cys) single nucleotide variant not specified [RCV004887558] Chr1:39760454 [GRCh38]
Chr1:40226126 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_001720.5(BMP8B):c.1051C>A (p.Gln351Lys) single nucleotide variant not specified [RCV004887560] Chr1:39763100 [GRCh38]
Chr1:40228772 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.686C>T (p.Thr229Met) single nucleotide variant not specified [RCV004848363] Chr1:39749080 [GRCh38]
Chr1:40214752 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.796G>A (p.Gly266Arg) single nucleotide variant not specified [RCV004848364] Chr1:39753011 [GRCh38]
Chr1:40218683 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_006112.4(PPIE):c.49G>A (p.Val17Met) single nucleotide variant not specified [RCV004848365] Chr1:39740182 [GRCh38]
Chr1:40205854 [GRCh37]
Chr1:1p34.2
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:5730
Count of miRNA genes:1346
Interacting mature miRNAs:1772
Transcripts:ENST00000324379, ENST00000356511, ENST00000372830, ENST00000372835, ENST00000456578, ENST00000467741, ENST00000470018, ENST00000470213, ENST00000474804, ENST00000475350, ENST00000480169, ENST00000482751, ENST00000485507, ENST00000495526, ENST00000497370
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597301467GWAS1397541_Hpeptidyl-prolyl cis-trans isomerase E measurement QTL GWAS1397541 (human)5e-53peptidyl-prolyl cis-trans isomerase E measurement13974479639744797Human
597478142GWAS1574216_Hblood protein measurement QTL GWAS1574216 (human)8e-44blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)13973915139739152Human
407058336GWAS707312_Hheel bone mineral density QTL GWAS707312 (human)9e-10heel bone mineral densitybone mineral density (CMO:0001226)13973935139739352Human
597266602GWAS1362676_Hpeptidyl-prolyl cis-trans isomerase E measurement QTL GWAS1362676 (human)3e-21peptidyl-prolyl cis-trans isomerase E measurement13975513439755135Human
597272685GWAS1368759_Hpeptidyl-prolyl cis-trans isomerase E measurement QTL GWAS1368759 (human)1e-13peptidyl-prolyl cis-trans isomerase E measurement13974083839740839Human
597272684GWAS1368758_Hpeptidyl-prolyl cis-trans isomerase E measurement QTL GWAS1368758 (human)3e-24peptidyl-prolyl cis-trans isomerase E measurement13975056239750563Human
597077891GWAS1173965_Hblood protein measurement QTL GWAS1173965 (human)4e-25blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)13975339339753394Human
597487675GWAS1583749_Hpeptidyl-prolyl cis-trans isomerase E measurement QTL GWAS1583749 (human)9e-24peptidyl-prolyl cis-trans isomerase E measurement13974720639747207Human

Markers in Region
RH93165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,229,395 - 40,229,555UniSTSGRCh37
GRCh37139,987,983 - 39,988,143UniSTSGRCh37
Build 36139,760,570 - 39,760,730RGDNCBI36
Celera138,269,821 - 38,269,981RGD
Celera138,511,159 - 38,511,319UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p35-p32UniSTS
Cytogenetic Map1p32UniSTS
HuRef138,348,110 - 38,348,270UniSTS
HuRef138,107,179 - 38,107,339UniSTS
GeneMap99-GB4 RH Map1119.2UniSTS
G62039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,219,185 - 40,219,334UniSTSGRCh37
Build 36139,991,772 - 39,991,921RGDNCBI36
Celera138,500,949 - 38,501,098RGD
Cytogenetic Map1p32UniSTS
HuRef138,337,871 - 38,338,020UniSTS
D1S168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,227,858 - 40,228,025UniSTSGRCh37
GRCh37139,989,533 - 39,989,714UniSTSGRCh37
Build 36139,762,120 - 39,762,301RGDNCBI36
Celera138,271,371 - 38,271,552RGD
Celera138,509,622 - 38,509,789UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p35-p32UniSTS
Cytogenetic Map1p32UniSTS
HuRef138,346,544 - 38,346,711UniSTS
HuRef138,108,732 - 38,108,915UniSTS
BMP8B_2501  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,223,705 - 40,224,304UniSTSGRCh37
Build 36139,996,292 - 39,996,891RGDNCBI36
Celera138,505,469 - 38,506,068RGD
HuRef138,342,391 - 38,342,990UniSTS
PPIE_9112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,219,009 - 40,219,537UniSTSGRCh37
Build 36139,991,596 - 39,992,124RGDNCBI36
Celera138,500,773 - 38,501,301RGD
HuRef138,337,695 - 38,338,223UniSTS
D1S3422  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,222,181 - 40,222,437UniSTSGRCh37
Build 36139,994,768 - 39,995,024RGDNCBI36
Celera138,503,945 - 38,504,201RGD
Cytogenetic Map1p32UniSTS
HuRef138,340,867 - 38,341,123UniSTS
Whitehead-YAC Contig Map1 UniSTS
D15S1390  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map7p13UniSTS
G38154  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q12UniSTS
Cytogenetic Map3q26.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_044984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001195007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001319293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_203456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_036543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_036544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006710290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011540501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017000052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054333835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_946519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_946520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_946521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF042385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF042386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF104012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF104013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI079772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL033527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU160972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU179717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU196539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU689929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA445146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK300365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CT002466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA079924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ160195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000324379   ⟹   ENSP00000312769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,738,882 - 39,756,769 (+)Ensembl
Ensembl Acc Id: ENST00000356511   ⟹   ENSP00000348904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,738,885 - 39,763,914 (+)Ensembl
Ensembl Acc Id: ENST00000372830   ⟹   ENSP00000361918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,738,901 - 39,763,914 (+)Ensembl
Ensembl Acc Id: ENST00000372835   ⟹   ENSP00000361925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,738,901 - 39,753,444 (+)Ensembl
Ensembl Acc Id: ENST00000456578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,738,886 - 39,741,843 (+)Ensembl
Ensembl Acc Id: ENST00000467741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,761,199 - 39,763,914 (+)Ensembl
Ensembl Acc Id: ENST00000470018   ⟹   ENSP00000436689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,692,182 - 39,745,403 (+)Ensembl
Ensembl Acc Id: ENST00000470213   ⟹   ENSP00000431714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,738,901 - 39,753,266 (+)Ensembl
Ensembl Acc Id: ENST00000474804   ⟹   ENSP00000432396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,738,904 - 39,749,088 (+)Ensembl
Ensembl Acc Id: ENST00000475350   ⟹   ENSP00000434888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,738,908 - 39,753,716 (+)Ensembl
Ensembl Acc Id: ENST00000480169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,738,990 - 39,745,498 (+)Ensembl
Ensembl Acc Id: ENST00000482751
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,738,890 - 39,753,716 (+)Ensembl
Ensembl Acc Id: ENST00000485507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,738,879 - 39,742,481 (+)Ensembl
Ensembl Acc Id: ENST00000495526   ⟹   ENSP00000434989
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,738,888 - 39,753,716 (+)Ensembl
Ensembl Acc Id: ENST00000497370   ⟹   ENSP00000433475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl139,738,901 - 39,753,052 (+)Ensembl
RefSeq Acc Id: NM_001195007   ⟹   NP_001181936
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,738,882 - 39,763,914 (+)NCBI
GRCh37140,204,517 - 40,229,586 (+)ENTREZGENE
HuRef138,323,206 - 38,348,301 (+)ENTREZGENE
CHM1_1140,319,960 - 40,345,027 (+)NCBI
T2T-CHM13v2.0139,608,324 - 39,633,355 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001319293   ⟹   NP_001306222
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,738,882 - 39,763,914 (+)NCBI
CHM1_1140,319,960 - 40,345,027 (+)NCBI
T2T-CHM13v2.0139,608,324 - 39,633,355 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006112   ⟹   NP_006103
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,738,882 - 39,756,769 (+)NCBI
GRCh37140,204,517 - 40,229,586 (+)ENTREZGENE
Build 36139,977,117 - 39,991,965 (+)NCBI Archive
HuRef138,323,206 - 38,348,301 (+)ENTREZGENE
CHM1_1140,319,960 - 40,337,881 (+)NCBI
T2T-CHM13v2.0139,608,324 - 39,626,209 (+)NCBI
Sequence:
RefSeq Acc Id: NM_203456   ⟹   NP_982281
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,738,882 - 39,763,914 (+)NCBI
GRCh37140,204,517 - 40,229,586 (+)ENTREZGENE
Build 36139,977,117 - 40,002,173 (+)NCBI Archive
HuRef138,323,206 - 38,348,301 (+)ENTREZGENE
CHM1_1140,319,960 - 40,345,027 (+)NCBI
T2T-CHM13v2.0139,608,324 - 39,633,355 (+)NCBI
Sequence:
RefSeq Acc Id: NR_036543
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,738,882 - 39,756,769 (+)NCBI
GRCh37140,204,517 - 40,229,586 (+)ENTREZGENE
HuRef138,323,206 - 38,348,301 (+)ENTREZGENE
CHM1_1140,319,960 - 40,337,881 (+)NCBI
T2T-CHM13v2.0139,608,324 - 39,626,209 (+)NCBI
Sequence:
RefSeq Acc Id: NR_036544
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,738,882 - 39,756,769 (+)NCBI
GRCh37140,204,517 - 40,229,586 (+)ENTREZGENE
HuRef138,323,206 - 38,348,301 (+)ENTREZGENE
CHM1_1140,319,960 - 40,337,881 (+)NCBI
T2T-CHM13v2.0139,608,324 - 39,626,209 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006710290   ⟹   XP_006710353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,738,882 - 39,756,769 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017000051   ⟹   XP_016855540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,738,882 - 39,763,914 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047430061   ⟹   XP_047286017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,738,882 - 39,763,914 (+)NCBI
RefSeq Acc Id: XM_047430098   ⟹   XP_047286054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,738,882 - 39,763,914 (+)NCBI
RefSeq Acc Id: XM_047430138   ⟹   XP_047286094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,738,882 - 39,763,914 (+)NCBI
RefSeq Acc Id: XM_047430164   ⟹   XP_047286120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,741,928 - 39,763,914 (+)NCBI
RefSeq Acc Id: XM_047430203   ⟹   XP_047286159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,738,882 - 39,753,052 (+)NCBI
RefSeq Acc Id: XM_054333830   ⟹   XP_054189805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0139,608,324 - 39,633,355 (+)NCBI
RefSeq Acc Id: XM_054333831   ⟹   XP_054189806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0139,608,324 - 39,633,355 (+)NCBI
RefSeq Acc Id: XM_054333832   ⟹   XP_054189807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0139,608,324 - 39,633,355 (+)NCBI
RefSeq Acc Id: XM_054333833   ⟹   XP_054189808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0139,608,324 - 39,626,209 (+)NCBI
RefSeq Acc Id: XM_054333834   ⟹   XP_054189809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0139,611,366 - 39,633,355 (+)NCBI
RefSeq Acc Id: XM_054333835   ⟹   XP_054189810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0139,608,324 - 39,622,492 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001181936 (Get FASTA)   NCBI Sequence Viewer  
  NP_001306222 (Get FASTA)   NCBI Sequence Viewer  
  NP_006103 (Get FASTA)   NCBI Sequence Viewer  
  NP_982281 (Get FASTA)   NCBI Sequence Viewer  
  XP_006710353 (Get FASTA)   NCBI Sequence Viewer  
  XP_016855540 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286017 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286054 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286094 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286120 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286159 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189805 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189806 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189807 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189808 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189809 (Get FASTA)   NCBI Sequence Viewer  
  XP_054189810 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC00006 (Get FASTA)   NCBI Sequence Viewer  
  AAC00007 (Get FASTA)   NCBI Sequence Viewer  
  AAD19906 (Get FASTA)   NCBI Sequence Viewer  
  AAD19907 (Get FASTA)   NCBI Sequence Viewer  
  AAH04898 (Get FASTA)   NCBI Sequence Viewer  
  AAH08451 (Get FASTA)   NCBI Sequence Viewer  
  AAI07737 (Get FASTA)   NCBI Sequence Viewer  
  AAZ93379 (Get FASTA)   NCBI Sequence Viewer  
  BAF85783 (Get FASTA)   NCBI Sequence Viewer  
  BAG36418 (Get FASTA)   NCBI Sequence Viewer  
  BAG52903 (Get FASTA)   NCBI Sequence Viewer  
  BAG65464 (Get FASTA)   NCBI Sequence Viewer  
  EAX07255 (Get FASTA)   NCBI Sequence Viewer  
  EAX07256 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000312769
  ENSP00000312769.5
  ENSP00000348904
  ENSP00000348904.2
  ENSP00000361918
  ENSP00000361918.1
  ENSP00000361925.5
  ENSP00000431714
  ENSP00000431714.1
  ENSP00000432396.1
  ENSP00000433475
  ENSP00000433475.1
  ENSP00000434888.1
  ENSP00000434989.1
  ENSP00000436689.1
GenBank Protein Q9UNP9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001181936   ⟸   NM_001195007
- Peptide Label: isoform 4
- UniProtKB: A8KAM9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_982281   ⟸   NM_203456
- Peptide Label: isoform 2
- UniProtKB: A8KAM9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006103   ⟸   NM_006112
- Peptide Label: isoform 1
- UniProtKB: Q5TGA3 (UniProtKB/Swiss-Prot),   Q5TGA2 (UniProtKB/Swiss-Prot),   Q5TGA0 (UniProtKB/Swiss-Prot),   Q3S611 (UniProtKB/Swiss-Prot),   Q32Q72 (UniProtKB/Swiss-Prot),   O43635 (UniProtKB/Swiss-Prot),   O43634 (UniProtKB/Swiss-Prot),   B2R971 (UniProtKB/Swiss-Prot),   Q9UIZ5 (UniProtKB/Swiss-Prot),   Q9UNP9 (UniProtKB/Swiss-Prot),   A8KAM9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006710353   ⟸   XM_006710290
- Peptide Label: isoform X3
- UniProtKB: A8KAM9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001306222   ⟸   NM_001319293
- Peptide Label: isoform 5
- UniProtKB: A8KAM9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016855540   ⟸   XM_017000051
- Peptide Label: isoform X1
- UniProtKB: A8KAM9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000361918   ⟸   ENST00000372830
Ensembl Acc Id: ENSP00000361925   ⟸   ENST00000372835
Ensembl Acc Id: ENSP00000312769   ⟸   ENST00000324379
Ensembl Acc Id: ENSP00000434989   ⟸   ENST00000495526
Ensembl Acc Id: ENSP00000433475   ⟸   ENST00000497370
Ensembl Acc Id: ENSP00000431714   ⟸   ENST00000470213
Ensembl Acc Id: ENSP00000436689   ⟸   ENST00000470018
Ensembl Acc Id: ENSP00000348904   ⟸   ENST00000356511
Ensembl Acc Id: ENSP00000432396   ⟸   ENST00000474804
Ensembl Acc Id: ENSP00000434888   ⟸   ENST00000475350
RefSeq Acc Id: XP_047286094   ⟸   XM_047430138
- Peptide Label: isoform X4
- UniProtKB: E9PKY5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286017   ⟸   XM_047430061
- Peptide Label: isoform X1
- UniProtKB: A8KAM9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286054   ⟸   XM_047430098
- Peptide Label: isoform X2
- UniProtKB: A8KAM9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286159   ⟸   XM_047430203
- Peptide Label: isoform X6
- UniProtKB: E9PK21 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047286120   ⟸   XM_047430164
- Peptide Label: isoform X5
- UniProtKB: E9PKY5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054189806   ⟸   XM_054333831
- Peptide Label: isoform X1
- UniProtKB: A8KAM9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054189805   ⟸   XM_054333830
- Peptide Label: isoform X1
- UniProtKB: A8KAM9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054189807   ⟸   XM_054333832
- Peptide Label: isoform X2
- UniProtKB: A8KAM9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054189808   ⟸   XM_054333833
- Peptide Label: isoform X3
- UniProtKB: A8KAM9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054189810   ⟸   XM_054333835
- Peptide Label: isoform X6
- UniProtKB: E9PK21 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054189809   ⟸   XM_054333834
- Peptide Label: isoform X5
- UniProtKB: E9PKY5 (UniProtKB/TrEMBL)
Protein Domains
PPIase cyclophilin-type   RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UNP9-F1-model_v2 AlphaFold Q9UNP9 1-301 view protein structure

Promoters
RGD ID:6855082
Promoter ID:EPDNEW_H706
Type:multiple initiation site
Name:PPIE_1
Description:peptidylprolyl isomerase E
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38139,738,892 - 39,738,952EPDNEW
RGD ID:6786311
Promoter ID:HG_KWN:2168
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000372834,   ENST00000372835,   NM_203456,   NM_203457,   OTTHUMT00000025642,   OTTHUMT00000025646,   OTTHUMT00000025647,   OTTHUMT00000025648,   OTTHUMT00000025650,   OTTHUMT00000025651,   OTTHUMT00000025652,   OTTHUMT00000025653,   OTTHUMT00000025654,   UC001CDU.1,   UC001CDW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36139,976,814 - 39,977,314 (+)MPROMDB
RGD ID:6851284
Promoter ID:EP73440
Type:initiation region
Name:HS_PPIE
Description:Peptidylprolyl isomerase E (cyclophilin E).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36139,977,151 - 39,977,211EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9258 AgrOrtholog
COSMIC PPIE COSMIC
Ensembl Genes ENSG00000084072 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000324379 ENTREZGENE
  ENST00000324379.10 UniProtKB/Swiss-Prot
  ENST00000356511 ENTREZGENE
  ENST00000356511.6 UniProtKB/Swiss-Prot
  ENST00000372830 ENTREZGENE
  ENST00000372830.5 UniProtKB/Swiss-Prot
  ENST00000372835.9 UniProtKB/TrEMBL
  ENST00000470018.5 UniProtKB/TrEMBL
  ENST00000470213 ENTREZGENE
  ENST00000470213.5 UniProtKB/TrEMBL
  ENST00000474804.5 UniProtKB/TrEMBL
  ENST00000475350.5 UniProtKB/TrEMBL
  ENST00000495526.5 UniProtKB/TrEMBL
  ENST00000497370 ENTREZGENE
  ENST00000497370.5 UniProtKB/TrEMBL
Gene3D-CATH 2.40.100.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000084072 GTEx
HGNC ID HGNC:9258 ENTREZGENE
Human Proteome Map PPIE Human Proteome Map
InterPro Cyclophilin-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyclophilin-type_PPIase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyclophilin-type_PPIase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPIE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPIE_RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10450 UniProtKB/Swiss-Prot
NCBI Gene 10450 ENTREZGENE
OMIM 602435 OMIM
PANTHER ATPASE E1 UniProtKB/TrEMBL
  PEPTIDYL-PROLYL CIS-TRANS ISOMERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEPTIDYL-PROLYL CIS-TRANS ISOMERASE H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
Pfam Pro_isomerase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33583 PharmGKB
PIRSF PPI_cyclophilin_E UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS CSAPPISMRASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CSA_PPIASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CSA_PPIASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50891 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8KAM9 ENTREZGENE, UniProtKB/TrEMBL
  B2R971 ENTREZGENE
  E9PEQ6_HUMAN UniProtKB/TrEMBL
  E9PIB0_HUMAN UniProtKB/TrEMBL
  E9PK21 ENTREZGENE, UniProtKB/TrEMBL
  E9PKY5 ENTREZGENE, UniProtKB/TrEMBL
  E9PMH0_HUMAN UniProtKB/TrEMBL
  H0YCV4_HUMAN UniProtKB/TrEMBL
  H0YE31_HUMAN UniProtKB/TrEMBL
  O43634 ENTREZGENE
  O43635 ENTREZGENE
  PPIE_HUMAN UniProtKB/Swiss-Prot
  Q32Q72 ENTREZGENE
  Q3S611 ENTREZGENE
  Q5TGA0 ENTREZGENE
  Q5TGA2 ENTREZGENE
  Q5TGA3 ENTREZGENE
  Q9UIZ5 ENTREZGENE
  Q9UNP9 ENTREZGENE
UniProt Secondary B2R971 UniProtKB/Swiss-Prot
  O43634 UniProtKB/Swiss-Prot
  O43635 UniProtKB/Swiss-Prot
  Q32Q72 UniProtKB/Swiss-Prot
  Q3S611 UniProtKB/Swiss-Prot
  Q5TGA0 UniProtKB/Swiss-Prot
  Q5TGA2 UniProtKB/Swiss-Prot
  Q5TGA3 UniProtKB/Swiss-Prot
  Q9UIZ5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 PPIE  peptidylprolyl isomerase E    peptidylprolyl isomerase E (cyclophilin E)  Symbol and/or name change 5135510 APPROVED