PPIB (peptidylprolyl isomerase B) - Rat Genome Database

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Gene: PPIB (peptidylprolyl isomerase B) Homo sapiens
Analyze
Symbol: PPIB
Name: peptidylprolyl isomerase B
RGD ID: 732990
HGNC Page HGNC
Description: Enables RNA polymerase binding activity; cyclosporin A binding activity; and peptidyl-prolyl cis-trans isomerase activity. Involved in several processes, including neutrophil chemotaxis; positive regulation by host of viral genome replication; and protein stabilization. Located in endoplasmic reticulum; nucleoplasm; and perinuclear region of cytoplasm. Implicated in osteogenesis imperfecta type 9.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: B; cyclophilin b; cyclophilin-like protein; CYP-S1; CYPB; epididymis secretory protein Li 39; HEL-S-39; MGC14109; MGC2224; OI9; peptidyl-prolyl cis-trans isomerase B; peptidylprolyl isomerase B (cyclophilin B); PPIase B; rotamase B; S-cyclophilin; SCYLP
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 Ensembl1564,155,740 - 64,163,134 (-)EnsemblGRCh38hg38GRCh38
GRCh381564,155,817 - 64,163,022 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371564,448,016 - 64,455,221 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361562,235,067 - 62,242,407 (-)NCBINCBI36hg18NCBI36
Build 341562,235,067 - 62,242,407NCBI
Celera1541,326,958 - 41,334,299 (-)NCBI
Cytogenetic Map15q22.31NCBI
HuRef1541,272,716 - 41,280,027 (-)NCBIHuRef
CHM1_11564,567,543 - 64,574,883 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:1286667   PMID:1505219   PMID:1530944   PMID:1710767   PMID:2000394   PMID:2040592   PMID:7522304   PMID:7821789   PMID:7829860   PMID:7909608   PMID:8197205   PMID:8206968  
PMID:8513493   PMID:9032343   PMID:9045699   PMID:9378502   PMID:9546659   PMID:10026140   PMID:10096576   PMID:10935542   PMID:11688976   PMID:11867726   PMID:11955071   PMID:11997457  
PMID:12181673   PMID:12397072   PMID:12475965   PMID:12477932   PMID:14729611   PMID:15095401   PMID:15489334   PMID:15635413   PMID:15764595   PMID:15952740   PMID:15989969   PMID:16169070  
PMID:16713569   PMID:17081065   PMID:17110338   PMID:17353931   PMID:17361185   PMID:17588944   PMID:18054915   PMID:18187620   PMID:18445599   PMID:19056847   PMID:19056867   PMID:19199708  
PMID:19297321   PMID:19503092   PMID:19615732   PMID:19781681   PMID:19940140   PMID:19946888   PMID:20089953   PMID:20147391   PMID:20237142   PMID:20348541   PMID:20360068   PMID:20458337  
PMID:20676357   PMID:20801878   PMID:20850016   PMID:21085665   PMID:21103663   PMID:21257749   PMID:21280149   PMID:21281954   PMID:21282188   PMID:21319273   PMID:21423176   PMID:21516116  
PMID:21559518   PMID:21630459   PMID:21748762   PMID:21873635   PMID:21956701   PMID:21988832   PMID:22046132   PMID:22119785   PMID:22174317   PMID:22205628   PMID:22268729   PMID:22426501  
PMID:22484812   PMID:22555451   PMID:22658674   PMID:22665516   PMID:22681889   PMID:22798670   PMID:22863883   PMID:22939629   PMID:23097496   PMID:23144461   PMID:23376485   PMID:23533145  
PMID:24043621   PMID:24163370   PMID:24270407   PMID:24272483   PMID:24457600   PMID:24550385   PMID:24583282   PMID:24711643   PMID:24713575   PMID:24981860   PMID:24990953   PMID:24999758  
PMID:25416956   PMID:25505242   PMID:25817432   PMID:25921289   PMID:25963833   PMID:26125731   PMID:26170170   PMID:26344197   PMID:26496610   PMID:26549023   PMID:26634552   PMID:26638075  
PMID:26641092   PMID:26687479   PMID:26774171   PMID:26885983   PMID:27342126   PMID:27432908   PMID:27569281   PMID:27576135   PMID:27591049   PMID:27609421   PMID:27732567   PMID:27777122  
PMID:27880917   PMID:28065597   PMID:28242392   PMID:28302793   PMID:28330616   PMID:28385890   PMID:28515276   PMID:28597972   PMID:28902428   PMID:29146974   PMID:29298432   PMID:29449217  
PMID:29467282   PMID:29507755   PMID:29509190   PMID:29795372   PMID:29845934   PMID:29876924   PMID:29987050   PMID:30021884   PMID:30430148   PMID:30463901   PMID:30575818   PMID:30948266  
PMID:30993352   PMID:30997501   PMID:31043353   PMID:31046837   PMID:31048545   PMID:31056421   PMID:31180492   PMID:31300519   PMID:31436131   PMID:31527668   PMID:31586073   PMID:31634494  
PMID:31672844   PMID:32129710   PMID:32162654   PMID:32203420   PMID:32296183   PMID:32466590   PMID:32780723   PMID:32814053   PMID:32838362   PMID:32941674   PMID:33194618   PMID:33957083  
PMID:34079125  


Genomics

Comparative Map Data
PPIB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1564,155,740 - 64,163,134 (-)EnsemblGRCh38hg38GRCh38
GRCh381564,155,817 - 64,163,022 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371564,448,016 - 64,455,221 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361562,235,067 - 62,242,407 (-)NCBINCBI36hg18NCBI36
Build 341562,235,067 - 62,242,407NCBI
Celera1541,326,958 - 41,334,299 (-)NCBI
Cytogenetic Map15q22.31NCBI
HuRef1541,272,716 - 41,280,027 (-)NCBIHuRef
CHM1_11564,567,543 - 64,574,883 (-)NCBICHM1_1
Ppib
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39965,967,451 - 65,973,911 (+)NCBIGRCm39mm39
GRCm39 Ensembl965,967,504 - 65,973,905 (+)Ensembl
GRCm38966,060,169 - 66,066,629 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl966,060,222 - 66,066,623 (+)EnsemblGRCm38mm10GRCm38
MGSCv37965,907,976 - 65,914,436 (+)NCBIGRCm37mm9NCBIm37
MGSCv36965,858,175 - 65,864,635 (+)NCBImm8
Celera963,295,684 - 63,302,172 (+)NCBICelera
Cytogenetic Map9CNCBI
Ppib
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2866,603,877 - 66,609,734 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl866,603,861 - 66,630,428 (+)Ensembl
Rnor_6.0871,719,681 - 71,725,538 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl871,719,563 - 71,725,562 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0871,388,620 - 71,394,477 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4870,343,463 - 70,349,320 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1870,362,516 - 70,368,374 (+)NCBI
Celera865,993,837 - 65,999,694 (+)NCBICelera
Cytogenetic Map8q24NCBI
Ppib
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545011,241,279 - 11,249,056 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545011,241,279 - 11,246,628 (+)NCBIChiLan1.0ChiLan1.0
PPIB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11561,400,275 - 61,406,758 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1561,400,272 - 61,406,758 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01543,108,139 - 43,115,470 (-)NCBIMhudiblu_PPA_v0panPan3
PPIB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13028,654,193 - 28,660,129 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3028,654,200 - 28,788,801 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3028,573,442 - 28,579,364 (-)NCBI
ROS_Cfam_1.03028,830,352 - 28,836,280 (-)NCBI
UMICH_Zoey_3.13028,764,458 - 28,770,385 (-)NCBI
UNSW_CanFamBas_1.03028,826,745 - 28,832,670 (-)NCBI
UU_Cfam_GSD_1.03029,065,950 - 29,071,877 (-)NCBI
Ppib
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640106,785,707 - 106,792,093 (-)NCBI
SpeTri2.0NW_00493647124,633,769 - 24,640,246 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPIB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1107,886,658 - 107,897,098 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11107,886,663 - 107,893,155 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21118,800,893 - 118,806,498 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PPIB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12619,380,496 - 19,399,596 (+)NCBI
Vero_WHO_p1.0NW_023666048122,005,937 - 122,012,943 (-)NCBI
Ppib
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247818,402,518 - 8,407,950 (+)NCBI

Position Markers
RH98542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371564,449,421 - 64,449,572UniSTSGRCh37
Build 361562,236,474 - 62,236,625RGDNCBI36
Celera1541,328,366 - 41,328,517RGD
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map15q22.31UniSTS
HuRef1541,274,124 - 41,274,275UniSTS
GeneMap99-GB4 RH Map15219.14UniSTS
RH103326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371564,447,775 - 64,447,945UniSTSGRCh37
Build 361562,234,828 - 62,234,998RGDNCBI36
Celera1541,326,719 - 41,326,889RGD
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map15q22.31UniSTS
HuRef1541,272,477 - 41,272,647UniSTS
GeneMap99-GB4 RH Map15219.14UniSTS
WI-9117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371564,448,074 - 64,448,181UniSTSGRCh37
Build 361562,235,127 - 62,235,234RGDNCBI36
Celera1541,327,019 - 41,327,126RGD
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map15q22.31UniSTS
HuRef1541,272,777 - 41,272,884UniSTS
GeneMap99-GB4 RH Map15221.91UniSTS
Whitehead-RH Map15220.0UniSTS
Whitehead-YAC Contig Map15 UniSTS
NCBI RH Map15372.8UniSTS
D15S1174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371564,448,074 - 64,448,236UniSTSGRCh37
Build 361562,235,127 - 62,235,289RGDNCBI36
Celera1541,327,019 - 41,327,181RGD
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map15q22.31UniSTS
HuRef1541,272,777 - 41,272,939UniSTS
TNG Radiation Hybrid Map1523801.0UniSTS
Stanford-G3 RH Map152007.0UniSTS
NCBI RH Map15367.5UniSTS
GeneMap99-G3 RH Map152007.0UniSTS
MARC_23668-23669:1029507689:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371564,448,246 - 64,449,086UniSTSGRCh37
Build 361562,235,299 - 62,236,139RGDNCBI36
Celera1541,327,191 - 41,328,031RGD
HuRef1541,272,949 - 41,273,789UniSTS
RH91503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371564,448,277 - 64,448,992UniSTSGRCh37
Celera1541,327,222 - 41,327,937UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map15q21-q22UniSTS
HuRef1541,272,980 - 41,273,695UniSTS
GeneMap99-GB4 RH Map15222.22UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
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Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
MARC_7211-7212:992008294:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371564,454,324 - 64,455,088UniSTSGRCh37
Celera1541,333,269 - 41,334,033UniSTS
HuRef1541,278,997 - 41,279,761UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:696
Count of miRNA genes:508
Interacting mature miRNAs:557
Transcripts:ENST00000300026, ENST00000558492, ENST00000561048
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 8 27 153 10 15 9 20 3 9 1 69 179 14 1 1
Medium 2431 2961 1573 614 1936 456 4336 2185 3725 417 1391 1434 175 1 1190 2786 6 1
Low 3 1 9 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC100840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY962310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ931949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS208051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB867236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M63573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U95646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000300026   ⟹   ENSP00000300026
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1564,155,817 - 64,163,022 (-)Ensembl
RefSeq Acc Id: ENST00000558492
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1564,156,778 - 64,163,006 (-)Ensembl
RefSeq Acc Id: ENST00000561048
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1564,155,837 - 64,163,019 (-)Ensembl
RefSeq Acc Id: ENST00000680158   ⟹   ENSP00000504873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1564,155,817 - 64,163,134 (-)Ensembl
RefSeq Acc Id: ENST00000680343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1564,155,740 - 64,162,581 (-)Ensembl
RefSeq Acc Id: ENST00000681397   ⟹   ENSP00000506584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1564,155,740 - 64,163,025 (-)Ensembl
RefSeq Acc Id: ENST00000681658   ⟹   ENSP00000505431
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1564,155,740 - 64,163,026 (-)Ensembl
RefSeq Acc Id: NM_000942   ⟹   NP_000933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381564,155,817 - 64,163,022 (-)NCBI
GRCh371564,448,014 - 64,455,354 (-)ENTREZGENE
Build 361562,235,067 - 62,242,407 (-)NCBI Archive
HuRef1541,272,716 - 41,280,027 (-)ENTREZGENE
CHM1_11564,567,543 - 64,574,883 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000933   ⟸   NM_000942
- Peptide Label: precursor
- UniProtKB: P23284 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000300026   ⟸   ENST00000300026
RefSeq Acc Id: ENSP00000506584   ⟸   ENST00000681397
RefSeq Acc Id: ENSP00000504873   ⟸   ENST00000680158
RefSeq Acc Id: ENSP00000505431   ⟸   ENST00000681658
Protein Domains
PPIase cyclophilin-type

Promoters
RGD ID:6814558
Promoter ID:HG_XEF:2746
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001022453,   NM_001047014
Position:
Human AssemblyChrPosition (strand)Source
Build 361562,240,926 - 62,241,426 (-)MPROMDB
RGD ID:6792533
Promoter ID:HG_KWN:21640
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:OTTHUMT00000256604,   UC010BGX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361562,242,156 - 62,243,192 (-)MPROMDB
RGD ID:6851172
Promoter ID:EP73383
Type:initiation region
Name:HS_PPIB
Description:Peptidylprolyl isomerase B (cyclophilin B).
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 361562,242,240 - 62,242,300EPD
RGD ID:7229759
Promoter ID:EPDNEW_H20626
Type:initiation region
Name:PPIB_1
Description:peptidylprolyl isomerase B
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
GRCh381564,163,019 - 64,163,079EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000942.5(PPIB):c.556_559del (p.Lys186fs) deletion Osteogenesis imperfecta type 9 [RCV000018433]|not provided [RCV000024535] Chr15:64156115..64156118 [GRCh38]
Chr15:64448314..64448317 [GRCh37]
Chr15:15q22.31
pathogenic|not provided
NM_000942.5(PPIB):c.249+163A>G single nucleotide variant not provided [RCV001545008] Chr15:64161878 [GRCh38]
Chr15:64454077 [GRCh37]
Chr15:15q22.31
likely benign
NM_000942.5(PPIB):c.451C>T (p.Gln151Ter) single nucleotide variant Osteogenesis imperfecta type 9 [RCV000018434]|not provided [RCV000024534] Chr15:64156802 [GRCh38]
Chr15:64449001 [GRCh37]
Chr15:15q22.31
pathogenic|not provided
NM_000942.4(PPIB):c.26T>G (p.Met9Arg) single nucleotide variant Osteogenesis imperfecta type 9 [RCV000018435]|not provided [RCV000024544] Chr15:64162961 [GRCh38]
Chr15:64455160 [GRCh37]
Chr15:15q22.31
pathogenic|not provided
NM_000942.4(PPIB):c.556_559delAAGA (p.Lys186Glnfs) deletion not provided [RCV000024535] Chr15:64156115..64156118 [GRCh38]
Chr15:64448314..64448317 [GRCh37]
Chr15:15q22.31
not provided
NM_000942.5(PPIB):c.414_423del (p.Ser139fs) deletion not provided [RCV000024536] Chr15:64156830..64156839 [GRCh38]
Chr15:64449029..64449038 [GRCh37]
Chr15:15q22.31
not provided
NM_000942.4(PPIB):c.120del (p.Val42fs) deletion Osteogenesis imperfecta type 9 [RCV000202411]|not provided [RCV000024537] Chr15:64162867 [GRCh38]
Chr15:64455066 [GRCh37]
Chr15:15q22.31
pathogenic|not provided
NM_000942.4(PPIB):c.313G>A (p.Gly105Arg) single nucleotide variant Osteogenesis imperfecta type 9 [RCV000202406]|not provided [RCV000024538] Chr15:64160134 [GRCh38]
Chr15:64452333 [GRCh37]
Chr15:15q22.31
pathogenic|not provided
NM_000942.4(PPIB):c.343+1G>A single nucleotide variant not provided [RCV000024539] Chr15:64160103 [GRCh38]
Chr15:64452302 [GRCh37]
Chr15:15q22.31
pathogenic|not provided
NM_000942.5(PPIB):c.492C>G (p.Gly164=) single nucleotide variant not provided [RCV000024540] Chr15:64156761 [GRCh38]
Chr15:64448960 [GRCh37]
Chr15:15q22.31
not provided
NM_000942.4(PPIB):c.324C>T (p.Thr108=) single nucleotide variant Osteogenesis imperfecta type 9 [RCV001001603]|not provided [RCV000024541]|not specified [RCV000427559] Chr15:64160123 [GRCh38]
Chr15:64452322 [GRCh37]
Chr15:15q22.31
benign|not provided
NM_000942.4(PPIB):c.178G>T (p.Val60Leu) single nucleotide variant not provided [RCV000024542] Chr15:64162112 [GRCh38]
Chr15:64454311 [GRCh37]
Chr15:15q22.31
not provided
NM_000942.4(PPIB):c.63C>A (p.Ser21=) single nucleotide variant Osteogenesis imperfecta type 9 [RCV000367242]|not provided [RCV000024543]|not specified [RCV000438388] Chr15:64162924 [GRCh38]
Chr15:64455123 [GRCh37]
Chr15:15q22.31
benign|likely benign|not provided
NM_000942.5(PPIB):c.563_566del (p.Asp188fs) microsatellite Osteogenesis imperfecta type 9 [RCV000034321] Chr15:64156108..64156111 [GRCh38]
Chr15:64448307..64448310 [GRCh37]
Chr15:15q22.31
pathogenic
NM_000942.5(PPIB):c.569G>A (p.Arg190Gln) single nucleotide variant not provided [RCV000726716]|not specified [RCV000202830] Chr15:64156105 [GRCh38]
Chr15:64448304 [GRCh37]
Chr15:15q22.31
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
NM_000942.5(PPIB):c.399_401dup (p.Gly134dup) duplication Osteogenesis imperfecta [RCV000256409] Chr15:64156851..64156852 [GRCh38]
Chr15:64449050..64449051 [GRCh37]
Chr15:15q22.31
likely pathogenic|uncertain significance
NM_000942.5(PPIB):c.529-180G>A single nucleotide variant not provided [RCV001571202] Chr15:64156325 [GRCh38]
Chr15:64448524 [GRCh37]
Chr15:15q22.31
likely benign
NM_000942.5(PPIB):c.*12A>G single nucleotide variant Osteogenesis imperfecta type 9 [RCV000267538] Chr15:64156011 [GRCh38]
Chr15:64448210 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.4(PPIB):c.-91A>C single nucleotide variant Osteogenesis imperfecta type 9 [RCV000287987] Chr15:64163077 [GRCh38]
Chr15:64455276 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.*190T>G single nucleotide variant Osteogenesis imperfecta type 9 [RCV000360020] Chr15:64155833 [GRCh38]
Chr15:64448032 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.597C>T (p.Ile199=) single nucleotide variant Osteogenesis imperfecta type 9 [RCV000296866]|not provided [RCV000930750]|not specified [RCV000603873] Chr15:64156077 [GRCh38]
Chr15:64448276 [GRCh37]
Chr15:15q22.31
likely benign|uncertain significance
NM_000942.4(PPIB):c.-94C>G single nucleotide variant Osteogenesis imperfecta type 9 [RCV000326511] Chr15:64163080 [GRCh38]
Chr15:64455279 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.*189dup duplication Osteogenesis Imperfecta, Recessive [RCV000302881] Chr15:64155833..64155834 [GRCh38]
Chr15:64448032..64448033 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.364C>T (p.Arg122Cys) single nucleotide variant Osteogenesis imperfecta type 9 [RCV000261682] Chr15:64156889 [GRCh38]
Chr15:64449088 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.*204dup duplication Osteogenesis Imperfecta, Recessive [RCV000308315] Chr15:64155818..64155819 [GRCh38]
Chr15:64448017..64448018 [GRCh37]
Chr15:15q22.31
likely benign
NM_000942.5(PPIB):c.*202dup duplication Osteogenesis Imperfecta, Recessive [RCV000347354] Chr15:64155820..64155821 [GRCh38]
Chr15:64448019..64448020 [GRCh37]
Chr15:15q22.31
benign
NM_000942.4(PPIB):c.58G>T (p.Gly20Trp) single nucleotide variant Osteogenesis imperfecta type 9 [RCV000274835] Chr15:64162929 [GRCh38]
Chr15:64455128 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.426C>T (p.Asn142=) single nucleotide variant Osteogenesis imperfecta type 9 [RCV000354164] Chr15:64156827 [GRCh38]
Chr15:64449026 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.*201_*202dup duplication Osteogenesis Imperfecta, Recessive [RCV000395841] Chr15:64155820..64155821 [GRCh38]
Chr15:64448019..64448020 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.4(PPIB):c.-98C>A single nucleotide variant Osteogenesis imperfecta type 9 [RCV000383462] Chr15:64163084 [GRCh38]
Chr15:64455283 [GRCh37]
Chr15:15q22.31
uncertain significance
Single allele single nucleotide variant not provided [RCV001566655] Chr15:64163212 [GRCh38]
Chr15:64455411 [GRCh37]
Chr15:15q22.31
likely benign
NM_000942.5(PPIB):c.602A>G (p.Asp201Gly) single nucleotide variant not provided [RCV000489938] Chr15:64156072 [GRCh38]
Chr15:64448271 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.4(PPIB):c.-118A>G single nucleotide variant Osteogenesis imperfecta type 9 [RCV000291583] Chr15:64163104 [GRCh38]
Chr15:64455303 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.4(PPIB):c.-56C>A single nucleotide variant Osteogenesis imperfecta type 9 [RCV000332218] Chr15:64163042 [GRCh38]
Chr15:64455241 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.4(PPIB):c.-139C>T single nucleotide variant Osteogenesis imperfecta type 9 [RCV000404289] Chr15:64163125 [GRCh38]
Chr15:64455324 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.4(PPIB):c.279C>T (p.Phe93=) single nucleotide variant Osteogenesis imperfecta type 9 [RCV000319530] Chr15:64160168 [GRCh38]
Chr15:64452367 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.4(PPIB):c.-181G>A single nucleotide variant Osteogenesis Imperfecta, Recessive [RCV000354746]|not provided [RCV000834504] Chr15:64163167 [GRCh38]
Chr15:64455366 [GRCh37]
Chr15:15q22.31
benign|likely benign
NM_000942.4(PPIB):c.-57G>A single nucleotide variant Osteogenesis imperfecta type 9 [RCV000389337] Chr15:64163043 [GRCh38]
Chr15:64455242 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.4(PPIB):c.-136C>T single nucleotide variant Osteogenesis imperfecta type 9 [RCV000339546] Chr15:64163122 [GRCh38]
Chr15:64455321 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.4(PPIB):c.-171C>T single nucleotide variant Osteogenesis Imperfecta, Recessive [RCV000297521]|not provided [RCV000834505]|not specified [RCV000733921] Chr15:64163157 [GRCh38]
Chr15:64455356 [GRCh37]
Chr15:15q22.31
benign|likely benign
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
NM_000942.5(PPIB):c.615C>T (p.Ile205=) single nucleotide variant Osteogenesis imperfecta type 9 [RCV001002183] Chr15:64156059 [GRCh38]
Chr15:64448258 [GRCh37]
Chr15:15q22.31
likely benign
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
NM_000942.4(PPIB):c.249+19G>T single nucleotide variant not specified [RCV000423946] Chr15:64162022 [GRCh38]
Chr15:64454221 [GRCh37]
Chr15:15q22.31
likely benign
NM_000942.4(PPIB):c.-25G>C single nucleotide variant not specified [RCV000426164] Chr15:64163011 [GRCh38]
Chr15:64455210 [GRCh37]
Chr15:15q22.31
likely benign
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_000942.5(PPIB):c.414_417dup (p.Met140fs) duplication not provided [RCV000485763] Chr15:64156835..64156836 [GRCh38]
Chr15:64449034..64449035 [GRCh37]
Chr15:15q22.31
likely pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_000942.4(PPIB):c.104A>G (p.Glu35Gly) single nucleotide variant not specified [RCV000507159] Chr15:64162883 [GRCh38]
Chr15:64455082 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.4(PPIB):c.-25G>A single nucleotide variant not specified [RCV000616406] Chr15:64163011 [GRCh38]
Chr15:64455210 [GRCh37]
Chr15:15q22.31
likely benign
NM_000942.4(PPIB):c.-20G>A single nucleotide variant not specified [RCV000616928] Chr15:64163006 [GRCh38]
Chr15:64455205 [GRCh37]
Chr15:15q22.31
likely benign
Single allele deletion Nemaline myopathy 6 [RCV000677940] Chr15:63414894..66439797 [GRCh37]
Chr15:15q22.2-22.31
likely pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
NM_000942.5(PPIB):c.136-245T>C single nucleotide variant not provided [RCV001566791] Chr15:64162399 [GRCh38]
Chr15:64454598 [GRCh37]
Chr15:15q22.31
likely benign
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_000942.5(PPIB):c.445G>A (p.Gly149Ser) single nucleotide variant none provided [RCV001285749] Chr15:64156808 [GRCh38]
Chr15:64449007 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.81G>C (p.Leu27=) single nucleotide variant not provided [RCV000927540] Chr15:64162906 [GRCh38]
Chr15:64455105 [GRCh37]
Chr15:15q22.31
likely benign
NM_000942.5(PPIB):c.33G>C (p.Val11=) single nucleotide variant not provided [RCV000968306] Chr15:64162954 [GRCh38]
Chr15:64455153 [GRCh37]
Chr15:15q22.31
likely benign
NM_000942.4(PPIB):c.250-1G>A single nucleotide variant Osteogenesis imperfecta type 9 [RCV000779171] Chr15:64160198 [GRCh38]
Chr15:64452397 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.4(PPIB):c.85G>A (p.Gly29Arg) single nucleotide variant Osteogenesis imperfecta type 9 [RCV001119819]|not provided [RCV000828158] Chr15:64162902 [GRCh38]
Chr15:64455101 [GRCh37]
Chr15:15q22.31
likely benign
NM_000942.5(PPIB):c.529-21G>A single nucleotide variant not provided [RCV000834263] Chr15:64156166 [GRCh38]
Chr15:64448365 [GRCh37]
Chr15:15q22.31
benign
NC_000015.10:g.64163078G>T single nucleotide variant Osteogenesis imperfecta type 9 [RCV001115235] Chr15:64163078 [GRCh38]
Chr15:64455277 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.*154C>T single nucleotide variant Osteogenesis imperfecta type 9 [RCV001116833] Chr15:64155869 [GRCh38]
Chr15:64448068 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.*14C>A single nucleotide variant Osteogenesis imperfecta type 9 [RCV001118289] Chr15:64156009 [GRCh38]
Chr15:64448208 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.*65G>C single nucleotide variant Osteogenesis imperfecta type 9 [RCV001116835] Chr15:64155958 [GRCh38]
Chr15:64448157 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.4:c.-181G>A single nucleotide variant not provided [RCV000834504] Chr15:64455366 [GRCh37]
Chr15:15q22.31
benign
NM_000942.4:c.-171C>T single nucleotide variant not provided [RCV000834505] Chr15:64455356 [GRCh37]
Chr15:15q22.31
benign
NM_000942.5(PPIB):c.529-116T>A single nucleotide variant not provided [RCV000834534] Chr15:64156261 [GRCh38]
Chr15:64448460 [GRCh37]
Chr15:15q22.31
benign
NM_000942.5(PPIB):c.*80C>T single nucleotide variant Osteogenesis imperfecta type 9 [RCV001116834] Chr15:64155943 [GRCh38]
Chr15:64448142 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.528+14G>A single nucleotide variant Osteogenesis imperfecta type 9 [RCV001118290] Chr15:64156711 [GRCh38]
Chr15:64448910 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.-12C>G single nucleotide variant Osteogenesis imperfecta type 9 [RCV001121804] Chr15:64162998 [GRCh38]
Chr15:64455197 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.444C>T (p.Asn148=) single nucleotide variant Osteogenesis imperfecta type 9 [RCV001118291] Chr15:64156809 [GRCh38]
Chr15:64449008 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.249+12G>A single nucleotide variant Osteogenesis imperfecta type 9 [RCV001119818] Chr15:64162029 [GRCh38]
Chr15:64454228 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.343+238G>A single nucleotide variant not provided [RCV001546349] Chr15:64159866 [GRCh38]
Chr15:64452065 [GRCh37]
Chr15:15q22.31
likely benign
NM_000942.5(PPIB):c.12C>T (p.Leu4=) single nucleotide variant not provided [RCV000933187] Chr15:64162975 [GRCh38]
Chr15:64455174 [GRCh37]
Chr15:15q22.31
likely benign
NM_000942.5(PPIB):c.9C>T (p.Arg3=) single nucleotide variant not provided [RCV000940594] Chr15:64162978 [GRCh38]
Chr15:64455177 [GRCh37]
Chr15:15q22.31
benign
NM_000942.5(PPIB):c.-9C>G single nucleotide variant Osteogenesis imperfecta type 9 [RCV001121803] Chr15:64162995 [GRCh38]
Chr15:64455194 [GRCh37]
Chr15:15q22.31
uncertain significance
NC_000015.10:g.64163078G>C single nucleotide variant Osteogenesis imperfecta type 9 [RCV001121806] Chr15:64163078 [GRCh38]
Chr15:64455277 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.606C>T (p.Cys202=) single nucleotide variant not provided [RCV000935375] Chr15:64156068 [GRCh38]
Chr15:64448267 [GRCh37]
Chr15:15q22.31
likely benign
NM_000942.5(PPIB):c.343+143C>T single nucleotide variant not provided [RCV001560404] Chr15:64159961 [GRCh38]
Chr15:64452160 [GRCh37]
Chr15:15q22.31
likely benign
NM_000942.5(PPIB):c.249+301_249+302dup duplication not provided [RCV001568728] Chr15:64161725..64161726 [GRCh38]
Chr15:64453924..64453925 [GRCh37]
Chr15:15q22.31
likely benign
NM_000942.5(PPIB):c.57G>T (p.Ala19=) single nucleotide variant Osteogenesis imperfecta type 9 [RCV001121802] Chr15:64162930 [GRCh38]
Chr15:64455129 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.344-61C>T single nucleotide variant Osteogenesis imperfecta type 9 [RCV001001652] Chr15:64156970 [GRCh38]
Chr15:64449169 [GRCh37]
Chr15:15q22.31
benign
NM_000942.5(PPIB):c.300C>A (p.Phe100Leu) single nucleotide variant Osteogenesis imperfecta type 9 [RCV001119817] Chr15:64160147 [GRCh38]
Chr15:64452346 [GRCh37]
Chr15:15q22.31
uncertain significance
NC_000015.10:g.64163078G>A single nucleotide variant Osteogenesis imperfecta type 9 [RCV001121805] Chr15:64163078 [GRCh38]
Chr15:64455277 [GRCh37]
Chr15:15q22.31
uncertain significance
NM_000942.5(PPIB):c.*21T>A single nucleotide variant Osteogenesis imperfecta type 9 [RCV001118288] Chr15:64156002 [GRCh38]
Chr15:64448201 [GRCh37]
Chr15:15q22.31
benign
NM_000942.5(PPIB):c.359G>A (p.Gly120Asp) single nucleotide variant Osteogenesis imperfecta type 9 [RCV001119816] Chr15:64156894 [GRCh38]
Chr15:64449093 [GRCh37]
Chr15:15q22.31
uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1
uncertain significance
NM_000942.5(PPIB):c.344-1G>T single nucleotide variant none provided [RCV001285947] Chr15:64156910 [GRCh38]
Chr15:64449109 [GRCh37]
Chr15:15q22.31
pathogenic|likely pathogenic
NM_000942.5(PPIB):c.249+338G>T single nucleotide variant not provided [RCV001536372] Chr15:64161703 [GRCh38]
Chr15:64453902 [GRCh37]
Chr15:15q22.31
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9255 AgrOrtholog
COSMIC PPIB COSMIC
Ensembl Genes ENSG00000166794 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000300026 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000504873 UniProtKB/TrEMBL
  ENSP00000505431 UniProtKB/TrEMBL
  ENSP00000506584 UniProtKB/TrEMBL
Ensembl Transcript ENST00000300026 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000680158 UniProtKB/TrEMBL
  ENST00000681397 UniProtKB/TrEMBL
  ENST00000681658 UniProtKB/TrEMBL
Gene3D-CATH 2.40.100.10 UniProtKB/Swiss-Prot
GTEx ENSG00000166794 GTEx
HGNC ID HGNC:9255 ENTREZGENE
Human Proteome Map PPIB Human Proteome Map
InterPro Cyclophilin-like_dom_sf UniProtKB/Swiss-Prot
  Cyclophilin-type_PPIase_CS UniProtKB/Swiss-Prot
  Cyclophilin-type_PPIase_dom UniProtKB/Swiss-Prot
KEGG Report hsa:5479 UniProtKB/Swiss-Prot
NCBI Gene 5479 ENTREZGENE
OMIM 123841 OMIM
  259440 OMIM
Pfam Pro_isomerase UniProtKB/Swiss-Prot
PharmGKB PA33580 PharmGKB
PRINTS CSAPPISMRASE UniProtKB/Swiss-Prot
PROSITE CSA_PPIASE_1 UniProtKB/Swiss-Prot
  CSA_PPIASE_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50891 UniProtKB/Swiss-Prot
UniProt A0A7P0T7U3_HUMAN UniProtKB/TrEMBL
  A0A7P0TB45_HUMAN UniProtKB/TrEMBL
  A0A7P0Z497_HUMAN UniProtKB/TrEMBL
  P23284 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K534 UniProtKB/Swiss-Prot
  Q6IBH5 UniProtKB/Swiss-Prot
  Q9BVK5 UniProtKB/Swiss-Prot


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