PERP (p53 apoptosis effector related to PMP22) - Rat Genome Database

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Gene: PERP (p53 apoptosis effector related to PMP22) Homo sapiens
Analyze
Symbol: PERP
Name: p53 apoptosis effector related to PMP22
RGD ID: 1321113
HGNC Page HGNC:17637
Description: Involved in activation of cysteine-type endopeptidase activity and positive regulation of neutrophil chemotaxis. Predicted to be located in desmosome and plasma membrane. Predicted to be active in cell-cell junction. Implicated in erythrokeratodermia variabilis and mutilating palmoplantar keratoderma with periorificial keratotic plaques.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 1110017A08Rik; dJ496H19.1; EKVP7; KCP-1; KCP1; keratinocyte associated protein 1; keratinocyte-associated protein 1; keratinocytes associated protein 1; KRTCAP1; OLMS2; p53 apoptosis effector related to PMP-22; p53-induced protein PIGPC1; PERP, TP53 apoptosis effector; PIGPC1; RP3-496H19.1; THW; transmembrane protein THW
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PERPP3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386138,088,505 - 138,107,419 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6138,088,505 - 138,107,419 (-)EnsemblGRCh38hg38GRCh38
GRCh376138,409,642 - 138,428,556 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366138,453,619 - 138,470,280 (-)NCBINCBI36Build 36hg18NCBI36
Build 346138,453,618 - 138,470,280NCBI
Celera6139,149,757 - 139,168,773 (-)NCBICelera
Cytogenetic Map6q23.3NCBI
HuRef6135,971,089 - 135,990,120 (-)NCBIHuRef
CHM1_16138,671,982 - 138,691,001 (-)NCBICHM1_1
T2T-CHM13v2.06139,276,972 - 139,295,905 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-acetamidofluorene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (ISO)
alvocidib  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP,ISO)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
chromium atom  (EXP)
cisplatin  (EXP,ISO)
cobalt atom  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
diazinon  (ISO)
dibenzofurans  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
enzalutamide  (EXP)
etoposide  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
glafenine  (ISO)
hydrogen peroxide  (ISO)
hydroxyurea  (ISO)
ketoconazole  (EXP)
leflunomide  (ISO)
lipopolysaccharide  (EXP)
maneb  (ISO)
menadione  (ISO)
mercury dibromide  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (ISO)
methylmercury chloride  (EXP)
mitomycin C  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nickel sulfate  (EXP)
nitrofen  (ISO)
Nutlin-3  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pyrazinecarboxamide  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
trovafloxacin  (ISO)
Tungsten carbide  (EXP)
urethane  (EXP)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP)
WIN 55212-2  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:8889548   PMID:10733530   PMID:11062687   PMID:12477932   PMID:12752121   PMID:14574404   PMID:14702039   PMID:14726658   PMID:15489334   PMID:16303743   PMID:16344560  
PMID:18029348   PMID:18387192   PMID:18976975   PMID:19040420   PMID:19158843   PMID:19353588   PMID:19913121   PMID:20306497   PMID:20453000   PMID:20628086   PMID:20800603   PMID:20975948  
PMID:21254927   PMID:21451571   PMID:21873635   PMID:22515648   PMID:23333304   PMID:23568457   PMID:24066004   PMID:25486861   PMID:27078059   PMID:27584665   PMID:28323918   PMID:29117863  
PMID:30321533   PMID:31240850   PMID:31898316   PMID:31926492   PMID:32296183   PMID:32814053   PMID:32843065   PMID:33034918   PMID:34863005   PMID:35178836  


Genomics

Comparative Map Data
PERP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386138,088,505 - 138,107,419 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6138,088,505 - 138,107,419 (-)EnsemblGRCh38hg38GRCh38
GRCh376138,409,642 - 138,428,556 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366138,453,619 - 138,470,280 (-)NCBINCBI36Build 36hg18NCBI36
Build 346138,453,618 - 138,470,280NCBI
Celera6139,149,757 - 139,168,773 (-)NCBICelera
Cytogenetic Map6q23.3NCBI
HuRef6135,971,089 - 135,990,120 (-)NCBIHuRef
CHM1_16138,671,982 - 138,691,001 (-)NCBICHM1_1
T2T-CHM13v2.06139,276,972 - 139,295,905 (-)NCBIT2T-CHM13v2.0
Perp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391018,720,819 - 18,732,821 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1018,720,768 - 18,732,821 (+)EnsemblGRCm39 Ensembl
GRCm381018,845,071 - 18,857,073 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1018,845,020 - 18,857,073 (+)EnsemblGRCm38mm10GRCm38
MGSCv371018,564,877 - 18,576,879 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361018,534,487 - 18,546,489 (+)NCBIMGSCv36mm8
Celera1018,748,886 - 18,761,084 (+)NCBICelera
Cytogenetic Map10A3NCBI
cM Map107.97NCBI
Perp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8115,361,784 - 15,374,230 (+)NCBIGRCr8
mRatBN7.2113,542,067 - 13,554,514 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl113,542,067 - 13,554,511 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx113,309,957 - 13,322,172 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0119,311,879 - 19,324,094 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0113,522,288 - 13,534,734 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0114,224,392 - 14,236,838 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl114,224,393 - 14,236,846 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0115,786,756 - 15,799,202 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4113,976,356 - 13,988,803 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1113,976,417 - 13,988,865 (+)NCBI
Celera111,994,747 - 12,007,193 (+)NCBICelera
Cytogenetic Map1p12NCBI
Perp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543621,417,332 - 21,431,312 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543621,425,321 - 21,430,780 (+)NCBIChiLan1.0ChiLan1.0
PERP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25158,052,065 - 158,069,866 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16155,949,703 - 155,967,511 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06135,845,845 - 135,863,603 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16139,931,031 - 139,947,785 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6139,931,031 - 139,947,792 (-)Ensemblpanpan1.1panPan2
PERP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1130,418,847 - 30,435,287 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl130,419,963 - 30,435,859 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha131,302,107 - 31,318,554 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0130,586,637 - 30,602,974 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl130,586,649 - 30,603,057 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1130,465,332 - 30,481,655 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0130,346,928 - 30,363,397 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0130,655,974 - 30,672,424 (-)NCBIUU_Cfam_GSD_1.0
Perp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946125,505,855 - 125,522,032 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365605,284,612 - 5,301,478 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365605,285,071 - 5,301,253 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PERP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl126,301,252 - 26,317,868 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1126,301,254 - 26,317,046 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2129,555,756 - 29,574,041 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PERP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11335,305,552 - 35,322,112 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1335,305,678 - 35,322,099 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660407,499,793 - 7,516,318 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Perp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475315,772,083 - 15,786,794 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475315,772,104 - 15,786,238 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PERP
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_022121.5(PERP):c.453G>A (p.Trp151Ter) single nucleotide variant Olmsted syndrome 2 [RCV001293410] Chr6:138092171 [GRCh38]
Chr6:138413308 [GRCh37]
Chr6:6q23.3		 pathogenic
NM_022121.5(PERP):c.452G>A (p.Trp151Ter) single nucleotide variant Olmsted syndrome 2 [RCV001293411] Chr6:138092172 [GRCh38]
Chr6:138413309 [GRCh37]
Chr6:6q23.3		 pathogenic
GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3 copy number gain See cases [RCV000136826] Chr6:135358150..155455117 [GRCh38]
Chr6:135679288..155776251 [GRCh37]
Chr6:135720981..155817943 [NCBI36]
Chr6:6q23.3-25.3		 pathogenic
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3 copy number gain See cases [RCV000143444] Chr6:133537271..165875545 [GRCh38]
Chr6:133858409..166289033 [GRCh37]
Chr6:133900102..166209023 [NCBI36]
Chr6:6q23.2-27		 pathogenic
GRCh37/hg19 6q23.3(chr6:138195550-138804767)x3 copy number gain See cases [RCV000446945] Chr6:138195550..138804767 [GRCh37]
Chr6:6q23.3		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q23.2-24.2(chr6:133077239-143761582)x1 copy number loss See cases [RCV000510451] Chr6:133077239..143761582 [GRCh37]
Chr6:6q23.2-24.2		 pathogenic
NM_022121.5(PERP):c.210G>C (p.Glu70Asp) single nucleotide variant Inborn genetic diseases [RCV003259402] Chr6:138107131 [GRCh38]
Chr6:138428268 [GRCh37]
Chr6:6q23.3		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_022121.5(PERP):c.294C>T (p.Ala98=) single nucleotide variant not provided [RCV000961747] Chr6:138096415 [GRCh38]
Chr6:138417552 [GRCh37]
Chr6:6q23.3		 benign
NM_022121.5(PERP):c.99C>T (p.Arg33=) single nucleotide variant not provided [RCV000882243] Chr6:138107242 [GRCh38]
Chr6:138428379 [GRCh37]
Chr6:6q23.3		 benign
NC_000006.12:g.(?_137871228)_(138263611_?)del deletion not provided [RCV001031390] Chr6:138192365..138584748 [GRCh37]
Chr6:6q23.3		 pathogenic
NM_022121.5(PERP):c.125G>T (p.Gly42Val) single nucleotide variant not provided [RCV000975131] Chr6:138107216 [GRCh38]
Chr6:138428353 [GRCh37]
Chr6:6q23.3		 benign
GRCh37/hg19 6q23.3-24.3(chr6:135239633-146997510) copy number loss not provided [RCV000767713] Chr6:135239633..146997510 [GRCh37]
Chr6:6q23.3-24.3		 pathogenic
GRCh37/hg19 6q23.2-24.1(chr6:133817341-140038401)x1 copy number loss not provided [RCV001005848] Chr6:133817341..140038401 [GRCh37]
Chr6:6q23.2-24.1		 pathogenic
NM_022121.5(PERP):c.391G>A (p.Val131Met) single nucleotide variant Inborn genetic diseases [RCV003239350] Chr6:138092233 [GRCh38]
Chr6:138413370 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_022121.5(PERP):c.70G>T (p.Ala24Ser) single nucleotide variant not provided [RCV000961748] Chr6:138107271 [GRCh38]
Chr6:138428408 [GRCh37]
Chr6:6q23.3		 benign
GRCh37/hg19 6q23.3-24.1(chr6:135936688-140660269)x1 copy number loss not provided [RCV001249247] Chr6:135936688..140660269 [GRCh37]
Chr6:6q23.3-24.1		 not provided
GRCh37/hg19 6q23.3(chr6:138396174-138736943)x3 copy number gain not provided [RCV001259966] Chr6:138396174..138736943 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_022121.5(PERP):c.466G>A (p.Gly156Arg) single nucleotide variant Erythrokeratodermia variabilis et progressiva 7 [RCV001293415] Chr6:138092158 [GRCh38]
Chr6:138413295 [GRCh37]
Chr6:6q23.3		 pathogenic
NM_022121.5(PERP):c.459C>G (p.Tyr153Ter) single nucleotide variant Olmsted syndrome 2 [RCV001293412] Chr6:138092165 [GRCh38]
Chr6:138413302 [GRCh37]
Chr6:6q23.3		 pathogenic
NM_022121.5(PERP):c.112del (p.Ser38fs) deletion Erythrokeratodermia variabilis et progressiva 7 [RCV001293413]|not provided [RCV002462903] Chr6:138107229 [GRCh38]
Chr6:138428366 [GRCh37]
Chr6:6q23.3		 pathogenic
NM_022121.5(PERP):c.459C>A (p.Tyr153Ter) single nucleotide variant Olmsted syndrome 2 [RCV001293414] Chr6:138092165 [GRCh38]
Chr6:138413302 [GRCh37]
Chr6:6q23.3		 pathogenic
GRCh37/hg19 6q23.2-24.1(chr6:133810210-140046615)x1 copy number loss not provided [RCV001537931] Chr6:133810210..140046615 [GRCh37]
Chr6:6q23.2-24.1		 pathogenic
Single allele deletion Autoinflammatory syndrome, familial, Behcet-like [RCV002247731] Chr6:134838331..142160056 [GRCh38]
Chr6:6q23.3-24.1		 pathogenic
NM_022121.5(PERP):c.388C>T (p.Pro130Ser) single nucleotide variant Inborn genetic diseases [RCV002992582] Chr6:138092236 [GRCh38]
Chr6:138413373 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_022121.5(PERP):c.392T>C (p.Val131Ala) single nucleotide variant Inborn genetic diseases [RCV002986126] Chr6:138092232 [GRCh38]
Chr6:138413369 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_022121.5(PERP):c.309G>T (p.Gln103His) single nucleotide variant Inborn genetic diseases [RCV002944568] Chr6:138096400 [GRCh38]
Chr6:138417537 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_022121.5(PERP):c.100G>A (p.Gly34Ser) single nucleotide variant Inborn genetic diseases [RCV003361890] Chr6:138107241 [GRCh38]
Chr6:138428378 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_022121.5(PERP):c.175G>A (p.Gly59Arg) single nucleotide variant PERP-related disorder [RCV003980937]|not provided [RCV003428958] Chr6:138107166 [GRCh38]
Chr6:138428303 [GRCh37]
Chr6:6q23.3		 likely benign
GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3 copy number gain not specified [RCV003986663] Chr6:131569837..145572239 [GRCh37]
Chr6:6q23.2-24.2		 pathogenic
GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3 copy number gain not specified [RCV003986631] Chr6:119840686..156623091 [GRCh37]
Chr6:6q22.31-25.3		 pathogenic
NM_022121.5(PERP):c.230C>T (p.Ala77Val) single nucleotide variant Inborn genetic diseases [RCV004505851] Chr6:138096479 [GRCh38]
Chr6:138417616 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_022121.5(PERP):c.238A>G (p.Met80Val) single nucleotide variant Inborn genetic diseases [RCV004505852] Chr6:138096471 [GRCh38]
Chr6:138417608 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_022121.5(PERP):c.52C>A (p.Leu18Ile) single nucleotide variant Inborn genetic diseases [RCV004655719] Chr6:138107289 [GRCh38]
Chr6:138428426 [GRCh37]
Chr6:6q23.3		 uncertain significance
NM_022121.5(PERP):c.533A>G (p.Asp178Gly) single nucleotide variant Inborn genetic diseases [RCV004659857] Chr6:138092091 [GRCh38]
Chr6:138413228 [GRCh37]
Chr6:6q23.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1012
Count of miRNA genes:609
Interacting mature miRNAs:667
Transcripts:ENST00000421351
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406886114GWAS535090_Hsusceptibility to vaginal yeast infection measurement QTL GWAS535090 (human)0.000001susceptibility to vaginal yeast infection measurement6138091475138091476Human
407181495GWAS830471_Hdesmoglein-2 measurement QTL GWAS830471 (human)6e-14desmoglein-2 measurement6138092196138092197Human
406965781GWAS614757_Hbulimia nervosa QTL GWAS614757 (human)0.000002bulimia nervosa6138104895138104896Human
407364363GWAS1013339_Hblood protein measurement QTL GWAS1013339 (human)2e-19blood protein measurementblood protein measurement (CMO:0000028)6138092196138092197Human

Markers in Region
D6S1587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376138,421,606 - 138,421,827UniSTSGRCh37
Build 366138,463,299 - 138,463,520RGDNCBI36
Celera6139,161,721 - 139,161,940RGD
Cytogenetic Map6q24UniSTS
HuRef6135,983,054 - 135,983,275UniSTS
Marshfield Genetic Map6143.4UniSTS
Marshfield Genetic Map6143.4RGD
Genethon Genetic Map6144.4UniSTS
TNG Radiation Hybrid Map667174.0UniSTS
deCODE Assembly Map6141.16UniSTS
Stanford-G3 RH Map65735.0UniSTS
Whitehead-YAC Contig Map6 UniSTS
GeneMap99-G3 RH Map66038.0UniSTS
WI-18594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371590,820,704 - 90,820,822UniSTSGRCh37
GRCh376138,411,938 - 138,412,056UniSTSGRCh37
Build 366138,453,631 - 138,453,749RGDNCBI36
Celera6139,152,053 - 139,152,171RGD
Celera1567,225,051 - 67,225,169UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map15q26.1UniSTS
HuRef1566,932,698 - 66,932,816UniSTS
HuRef6135,973,386 - 135,973,504UniSTS
GeneMap99-GB4 RH Map6551.83UniSTS
Whitehead-RH Map6772.6UniSTS
RH36130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376138,409,766 - 138,409,879UniSTSGRCh37
Build 366138,451,459 - 138,451,572RGDNCBI36
Celera6139,149,881 - 139,149,994RGD
Cytogenetic Map6q24UniSTS
HuRef6135,971,213 - 135,971,326UniSTS
GeneMap99-GB4 RH Map6551.77UniSTS
RH46733  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376138,412,059 - 138,412,210UniSTSGRCh37
Build 366138,453,752 - 138,453,903RGDNCBI36
Celera6139,152,174 - 139,152,325RGD
Cytogenetic Map6q24UniSTS
HuRef6135,973,507 - 135,973,658UniSTS
GeneMap99-GB4 RH Map6551.83UniSTS
PERP__5667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376138,412,443 - 138,413,334UniSTSGRCh37
Build 366138,454,136 - 138,455,027RGDNCBI36
Celera6139,152,558 - 139,153,449RGD
HuRef6135,973,891 - 135,974,782UniSTS


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 2437 2788 2250 4969 1726 2350 6 624 1882 465 2270 7236 6405 50 3724 1 852 1744 1615 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_022121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF317550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ251830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL023582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY157578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU674771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA310443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ782552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX784592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA750046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR422553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000421351   ⟹   ENSP00000397157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6138,088,505 - 138,107,419 (-)Ensembl
RefSeq Acc Id: NM_022121   ⟹   NP_071404
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386138,088,505 - 138,107,419 (-)NCBI
GRCh376138,409,642 - 138,428,660 (-)ENTREZGENE
Build 366138,453,619 - 138,470,280 (-)NCBI Archive
HuRef6135,971,089 - 135,990,120 (-)ENTREZGENE
CHM1_16138,671,982 - 138,691,001 (-)NCBI
T2T-CHM13v2.06139,276,972 - 139,295,905 (-)NCBI
Sequence:
RefSeq Acc Id: NP_071404   ⟸   NM_022121
- UniProtKB: Q9H1C5 (UniProtKB/Swiss-Prot),   Q8NC16 (UniProtKB/Swiss-Prot),   Q8N1J6 (UniProtKB/Swiss-Prot),   Q8IWS3 (UniProtKB/Swiss-Prot),   E1P590 (UniProtKB/Swiss-Prot),   B2RB73 (UniProtKB/Swiss-Prot),   Q9H230 (UniProtKB/Swiss-Prot),   Q96FX8 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000397157   ⟸   ENST00000421351

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96FX8-F1-model_v2 AlphaFold Q96FX8 1-193 view protein structure

Promoters
RGD ID:7209259
Promoter ID:EPDNEW_H10376
Type:initiation region
Name:PERP_1
Description:PERP, TP53 apoptosis effector
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
GRCh386138,107,419 - 138,107,479EPDNEW
RGD ID:6804520
Promoter ID:HG_KWN:55180
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   NB4
Transcripts:NM_022121
Position:
Human AssemblyChrPosition (strand)Source
Build 366138,469,999 - 138,470,499 (-)MPROMDB
RGD ID:6850734
Promoter ID:EP73161
Type:initiation region
Name:HS_PIGPC1
Description:P53-induced protein PIGPC1.
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 366138,470,249 - 138,470,309EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17637 AgrOrtholog
COSMIC PERP COSMIC
Ensembl Genes ENSG00000112378 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000421351 ENTREZGENE
  ENST00000421351.4 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.140.150 UniProtKB/Swiss-Prot
GTEx ENSG00000112378 GTEx
HGNC ID HGNC:17637 ENTREZGENE
Human Proteome Map PERP Human Proteome Map
InterPro P53_induced UniProtKB/Swiss-Prot
  PMP22/EMP/MP20/Claudin UniProtKB/Swiss-Prot
KEGG Report hsa:64065 UniProtKB/Swiss-Prot
NCBI Gene 64065 ENTREZGENE
OMIM 609301 OMIM
PANTHER P53 APOPTOSIS EFFECTOR RELATED TO PMP-22 UniProtKB/Swiss-Prot
  PTHR14399 UniProtKB/Swiss-Prot
Pfam PMP22_Claudin UniProtKB/Swiss-Prot
PharmGKB PA134944221 PharmGKB
UniProt B2RB73 ENTREZGENE
  E1P590 ENTREZGENE
  PERP_HUMAN UniProtKB/Swiss-Prot
  Q8IWS3 ENTREZGENE
  Q8N1J6 ENTREZGENE
  Q8NC16 ENTREZGENE
  Q96FX8 ENTREZGENE
  Q9H1C5 ENTREZGENE
  Q9H230 ENTREZGENE
UniProt Secondary B2RB73 UniProtKB/Swiss-Prot
  E1P590 UniProtKB/Swiss-Prot
  Q8IWS3 UniProtKB/Swiss-Prot
  Q8N1J6 UniProtKB/Swiss-Prot
  Q8NC16 UniProtKB/Swiss-Prot
  Q9H1C5 UniProtKB/Swiss-Prot
  Q9H230 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-05 PERP  p53 apoptosis effector related to PMP22    PERP, TP53 apoptosis effector  Symbol and/or name change 5135510 APPROVED