ZMPSTE24 (zinc metallopeptidase STE24) - Rat Genome Database

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Gene: ZMPSTE24 (zinc metallopeptidase STE24) Homo sapiens
Analyze
Symbol: ZMPSTE24
Name: zinc metallopeptidase STE24
RGD ID: 1313677
HGNC Page HGNC
Description: Predicted to have metalloendopeptidase activity. Involved in regulation of defense response to virus. Localizes to protein-containing complex. Implicated in connective tissue disease and lethal restrictive dermopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CAAX prenyl protease 1 homolog; FACE-1; FACE1; farnesylated proteins-converting enzyme 1; farnesylated-proteins converting enzyme 1; FLJ14968; HGPS; Hutchinson-Gilford progeria syndrome; prenyl protein-specific endoprotease 1; PRO1; STE24; Ste24p; zinc metallopeptidase STE24 homolog; zinc metalloproteinase Ste24 homolog
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 Ensembl140,258,041 - 40,294,180 (+)EnsemblGRCh38hg38GRCh38
GRCh38140,258,078 - 40,294,180 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37140,723,908 - 40,759,852 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36140,496,320 - 40,532,443 (+)NCBINCBI36hg18NCBI36
Build 34140,392,871 - 40,428,944NCBI
Celera139,006,122 - 39,042,251 (+)NCBI
Cytogenetic Map1p34.2NCBI
HuRef138,842,523 - 38,878,354 (+)NCBIHuRef
CHM1_1140,839,331 - 40,875,788 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult walking behavior  (IEA,ISO)
bone mineralization  (IEA,ISO)
CAAX-box protein processing  (IBA,IEA)
calcium ion import into sarcoplasmic reticulum  (IEA,ISO)
CAMKK-AMPK signaling cascade  (IEA,ISO)
cardiac conduction  (IEA,ISO)
cardiac muscle cell development  (IEA,ISO)
cardiac ventricle development  (IEA,ISO)
cellular lipid metabolic process  (IEA,ISO)
cellular response to DNA damage stimulus  (ISO)
cellular response to gamma radiation  (IEA,ISO)
chromatin organization  (ISO)
chromosome organization  (ISO)
determination of adult lifespan  (IEA,ISO)
DNA repair  (IEA,ISO)
epidermis development  (ISO)
growth plate cartilage development  (IEA,ISO)
hair follicle development  (IEA,ISO)
heart morphogenesis  (IEA,ISO)
histone H2A phosphorylation  (IEA,ISO)
histone H2B acetylation  (ISO)
histone H2B-K5 acetylation  (IEA,ISO)
hypomethylation of CpG island  (IEA,ISO)
inflammatory cell apoptotic process  (IEA,ISO)
kidney morphogenesis  (IEA,ISO)
liver development  (IEA,ISO)
maintenance of rDNA  (IEA,ISO)
multicellular organism growth  (IEA,ISO)
negative regulation of gene expression  (ISO)
negative regulation of production of miRNAs involved in gene silencing by miRNA  (IEA,ISO)
neuromuscular process  (IEA,ISO)
nuclear envelope organization  (IEA,ISO)
nucleus organization  (ISO)
positive regulation of gene expression  (ISO)
prenylated protein catabolic process  (IEA,ISO)
protein processing  (ISO)
proteolysis  (TAS)
regulation of autophagy  (IEA,ISO)
regulation of blood circulation  (ISO)
regulation of bone mineralization  (IEA,ISO)
regulation of cell shape  (IEA,ISO)
regulation of cellular senescence  (IEA,ISO)
regulation of defense response to virus  (IDA)
regulation of DNA damage response, signal transduction by p53 class mediator  (IEA,ISO)
regulation of DNA methylation  (ISO)
regulation of fibroblast proliferation  (IEA,ISO)
regulation of glucose metabolic process  (IEA,ISO)
regulation of heart contraction  (ISO)
regulation of histone H4 acetylation  (ISO)
regulation of histone H4-K16 acetylation  (IEA,ISO)
regulation of hormone metabolic process  (IEA,ISO)
regulation of lipid metabolic process  (IEA,ISO)
regulation of mitotic cell cycle  (ISO)
regulation of mitotic cell cycle DNA replication  (IEA,ISO)
regulation of multicellular organism growth  (IEA,ISO)
regulation of RNA polymerase II regulatory region sequence-specific DNA binding  (IEA,ISO)
regulation of stress-activated protein kinase signaling cascade  (IEA,ISO)
regulation of termination of RNA polymerase I transcription  (IEA,ISO)
regulation of TOR signaling  (IEA,ISO)
regulation of transcription, DNA-templated  (ISO)
regulation of ventricular cardiac muscle cell membrane repolarization  (IEA,ISO)
response to DNA damage checkpoint signaling  (IEA,ISO)
thymus development  (IEA,ISO)
ventricular cardiac muscle tissue development  (IEA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cellular phenotype  (IAGP)
Abnormal fingertip morphology  (IAGP)
Abnormality of hair texture  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the neck  (IAGP)
Abnormality of the pinna  (IAGP)
Absence of subcutaneous fat  (IAGP)
Absent eyebrow  (IAGP)
Absent eyelashes  (IAGP)
Acroosteolysis of distal phalanges (feet)  (IAGP)
Adrenal hypoplasia  (IAGP)
Alopecia  (IAGP)
Alopecia totalis  (IAGP)
Angina pectoris  (IAGP)
Ankyloglossia  (IAGP)
Ankylosis  (IAGP)
Aortic regurgitation  (IAGP)
Aortic valve calcification  (IAGP)
Aortic valve stenosis  (IAGP)
Aplasia/Hypoplasia involving the nose  (IAGP)
Aplasia/Hypoplasia of the clavicles  (IAGP)
Aplasia/Hypoplasia of the eyebrow  (IAGP)
Aplasia/Hypoplastia of the eccrine sweat glands  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Ascending tubular aorta aneurysm  (IAGP)
Atherosclerosis  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Avascular necrosis  (IAGP)
Bird-like facies  (IAGP)
Blepharophimosis  (IAGP)
Brittle hair  (IAGP)
Calcinosis  (IAGP)
Camptodactyly of finger  (IAGP)
Carotid artery occlusion  (IAGP)
Choanal atresia  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital adrenal hypoplasia  (IAGP)
Congenital pseudoarthrosis of the clavicle  (IAGP)
Convex nasal ridge  (IAGP)
Corneal opacity  (IAGP)
Corneal ulceration  (IAGP)
Coxa valga  (IAGP)
Craniofacial disproportion  (IAGP)
Cyanosis  (IAGP)
Decreased adipose tissue around neck  (IAGP)
Decreased calvarial ossification  (IAGP)
Decreased fetal movement  (IAGP)
Decreased serum leptin  (IAGP)
Decreased skull ossification  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed menarche  (IAGP)
Delayed puberty  (IAGP)
Dental crowding  (IAGP)
Dermal atrophy  (IAGP)
Dermal translucency  (IAGP)
Dextrocardia  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dystrophic fingernails  (IAGP)
Dystrophic toenail  (IAGP)
Entropion  (IAGP)
Epidermal hyperkeratosis  (IAGP)
Exertional dyspnea  (IAGP)
Female hypogonadism  (IAGP)
Flexion contracture  (IAGP)
Generalized hyperkeratosis  (IAGP)
Generalized lipodystrophy  (IAGP)
Heterogeneous  (IAGP)
High palate  (IAGP)
High pitched voice  (IAGP)
High-frequency sensorineural hearing impairment  (IAGP)
Hip dislocation  (IAGP)
Hip pain  (IAGP)
Hydropic placenta  (IAGP)
Hyperglycemia  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperlipidemia  (IAGP)
Hypermelanotic macule  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of teeth  (IAGP)
Hypoplastic male external genitalia  (IAGP)
Hypospadias  (IAGP)
Impacted tooth  (IAGP)
Increased anterioposterior diameter of thorax  (IAGP)
Insulin resistance  (IAGP)
Insulin-resistant diabetes mellitus  (IAGP)
Intracranial hemorrhage  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint stiffness  (IAGP)
Kyphoscoliosis  (IAGP)
Lack of skin elasticity  (IAGP)
Large fontanelles  (IAGP)
Large placenta  (IAGP)
Left ventricular diastolic dysfunction  (IAGP)
Left ventricular systolic dysfunction  (IAGP)
Limitation of movement at ankles  (IAGP)
Limited hip movement  (IAGP)
Limited shoulder movement  (IAGP)
Limited wrist movement  (IAGP)
Loss of eyelashes  (IAGP)
Loss of facial adipose tissue  (IAGP)
Loss of subcutaneous adipose tissue in limbs  (IAGP)
Loss of truncal subcutaneous adipose tissue  (IAGP)
Low-frequency sensorineural hearing impairment  (IAGP)
Low-set ears  (IAGP)
Microcolon  (IAGP)
Micrognathia  (IAGP)
Mitral regurgitation  (IAGP)
Mitral stenosis  (IAGP)
Mitral valve calcification  (IAGP)
Mottled pigmentation  (IAGP)
Multiple joint contractures  (IAGP)
Myocardial infarction  (IAGP)
Nail dystrophy  (IAGP)
Narrow mouth  (IAGP)
Narrow nasal ridge  (IAGP)
Narrow nasal tip  (IAGP)
Natal tooth  (IAGP)
Nocturnal lagophthalmos  (IAGP)
Osteoarthritis  (IAGP)
Osteolytic defects of the distal phalanges of the hand  (IAGP)
Osteopenia  (IAGP)
Overtubulated long bones  (IAGP)
Papule  (IAGP)
Patchy alopecia  (IAGP)
Patent ductus arteriosus  (IAGP)
Persistence of primary teeth  (IAGP)
Polyhydramnios  (IAGP)
Premature birth  (IAGP)
Premature delivery because of cervical insufficiency or membrane fragility  (IAGP)
Premature loss of teeth  (IAGP)
Premature rupture of membranes  (IAGP)
Premature skin wrinkling  (IAGP)
Progeroid facial appearance  (IAGP)
Progressive clavicular acroosteolysis  (IAGP)
Prominent ear helix  (IAGP)
Prominent superficial blood vessels  (IAGP)
Prominent umbilicus  (IAGP)
Proptosis  (IAGP)
Pubertal developmental failure in females  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary hypoplasia  (IAGP)
Raynaud phenomenon  (IAGP)
Reduced bone mineral density  (IAGP)
Relative macrocephaly  (IAGP)
Retrognathia  (IAGP)
Rocker bottom foot  (IAGP)
Scaling skin  (IAGP)
Severe failure to thrive  (IAGP)
Shallow orbits  (IAGP)
Short chin  (IAGP)
Short clavicles  (IAGP)
Short distal phalanx of finger  (IAGP)
Short lingual frenulum  (IAGP)
Short nail  (IAGP)
Short nose  (IAGP)
Short palpebral fissure  (IAGP)
Short phalanx of finger  (IAGP)
Short stature  (IAGP)
Short umbilical cord  (IAGP)
Shuffling gait  (IAGP)
Skin erosion  (IAGP)
Small placenta  (IAGP)
Sparse eyebrow  (IAGP)
Sparse eyelashes  (IAGP)
Sparse hair  (IAGP)
Sparse or absent eyelashes  (IAGP)
Stiff skin  (IAGP)
Stillbirth  (IAGP)
Structural foot deformity  (IAGP)
Submucous cleft hard palate  (IAGP)
Telecanthus  (IAGP)
Temporomandibular joint ankylosis  (IAGP)
Thin clavicles  (IAGP)
Thin ribs  (IAGP)
Thin skin  (IAGP)
Thin vermilion border  (IAGP)
Thoracic kyphoscoliosis  (IAGP)
Transient ischemic attack  (IAGP)
Transposition of the great arteries  (IAGP)
Upper airway obstruction  (IAGP)
Ureteral duplication  (IAGP)
Ventricular hypertrophy  (IAGP)
Webbed neck  (IAGP)
Weight loss  (IAGP)
Widely patent fontanelles and sutures  (IAGP)
Wormian bones  (IAGP)
References

Additional References at PubMed
PMID:9700155   PMID:10076063   PMID:10373325   PMID:12477932   PMID:14702039   PMID:15317753   PMID:15489334   PMID:15671064   PMID:15843403   PMID:16303743   PMID:16344560   PMID:16671095  
PMID:16710414   PMID:17152860   PMID:17342744   PMID:17352743   PMID:17652517   PMID:17709742   PMID:18029348   PMID:18230615   PMID:18435794   PMID:18639527   PMID:18976975   PMID:19056867  
PMID:19322201   PMID:19351612   PMID:19383993   PMID:19453269   PMID:19645629   PMID:19680556   PMID:19841875   PMID:19913121   PMID:19946888   PMID:20101687   PMID:20550970   PMID:20628086  
PMID:20635340   PMID:20814950   PMID:21108632   PMID:21724554   PMID:21873635   PMID:22718200   PMID:22936788   PMID:22939629   PMID:23376485   PMID:23539603   PMID:23824909   PMID:24101728  
PMID:24169522   PMID:25665578   PMID:26186194   PMID:26344197   PMID:26379196   PMID:26638075   PMID:26724531   PMID:27034136   PMID:27129777   PMID:27342126   PMID:27729169   PMID:27774687  
PMID:28169297   PMID:28246125   PMID:28514442   PMID:28594571   PMID:29180619   PMID:29395067   PMID:29507755   PMID:29794150   PMID:30021884   PMID:30575818   PMID:30625386   PMID:31056421  
PMID:31091453   PMID:31536960   PMID:31644822   PMID:32149426   PMID:32199981   PMID:32788342   PMID:32872320   PMID:33130089   PMID:33845483  


Genomics

Comparative Map Data
ZMPSTE24
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl140,258,041 - 40,294,180 (+)EnsemblGRCh38hg38GRCh38
GRCh38140,258,078 - 40,294,180 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37140,723,908 - 40,759,852 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36140,496,320 - 40,532,443 (+)NCBINCBI36hg18NCBI36
Build 34140,392,871 - 40,428,944NCBI
Celera139,006,122 - 39,042,251 (+)NCBI
Cytogenetic Map1p34.2NCBI
HuRef138,842,523 - 38,878,354 (+)NCBIHuRef
CHM1_1140,839,331 - 40,875,788 (+)NCBICHM1_1
Zmpste24
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394120,916,434 - 120,955,452 (-)NCBIGRCm39mm39
GRCm39 Ensembl4120,916,434 - 120,955,438 (-)Ensembl
GRCm384121,059,237 - 121,098,249 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4121,059,237 - 121,098,241 (-)EnsemblGRCm38mm10GRCm38
MGSCv374120,731,843 - 120,770,848 (-)NCBIGRCm37mm9NCBIm37
MGSCv364120,556,873 - 120,595,878 (-)NCBImm8
Celera4119,770,178 - 119,809,143 (-)NCBICelera
Cytogenetic Map4D2.2NCBI
Zmpste24
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25134,627,218 - 134,660,360 (-)NCBI
Rnor_6.0 Ensembl5139,983,680 - 140,015,541 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05139,982,404 - 140,015,541 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05143,777,121 - 143,808,982 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45141,644,119 - 141,677,211 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15141,649,218 - 141,682,222 (-)NCBI
Celera5133,182,210 - 133,213,802 (-)NCBICelera
Cytogenetic Map5q36NCBI
Zmpste24
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495553781,920 - 134,609 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495553782,724 - 134,609 (+)NCBIChiLan1.0ChiLan1.0
ZMPSTE24
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1140,869,076 - 40,912,747 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl140,869,076 - 40,912,747 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0139,545,264 - 39,589,721 (+)NCBIMhudiblu_PPA_v0panPan3
ZMPSTE24
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1152,669,546 - 2,708,480 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl152,670,326 - 2,709,160 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha152,927,171 - 2,965,754 (-)NCBI
ROS_Cfam_1.0152,756,132 - 2,794,814 (-)NCBI
UMICH_Zoey_3.1152,663,629 - 2,702,258 (-)NCBI
UNSW_CanFamBas_1.0152,723,834 - 2,762,460 (-)NCBI
UU_Cfam_GSD_1.0152,739,878 - 2,778,521 (-)NCBI
Zmpste24
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505856,210,295 - 56,253,058 (+)NCBI
SpeTri2.0NW_00493647422,035,059 - 22,077,846 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ZMPSTE24
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl696,008,455 - 96,062,951 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1696,008,307 - 96,057,131 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2689,129,860 - 89,133,461 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ZMPSTE24
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12092,605,495 - 92,648,110 (-)NCBI
ChlSab1.1 Ensembl2092,605,309 - 92,648,114 (-)Ensembl
Vero_WHO_p1.0NW_02366603324,227,800 - 24,273,781 (+)NCBI
Zmpste24
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476422,723,643 - 22,777,517 (+)NCBI

Position Markers
D1S1868E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,759,630 - 40,759,798UniSTSGRCh37
Build 36140,532,217 - 40,532,385RGDNCBI36
Celera139,042,025 - 39,042,193RGD
Cytogenetic Map1p34UniSTS
HuRef138,878,128 - 38,878,296UniSTS
GeneMap99-GB4 RH Map1124.58UniSTS
GeneMap99-GB4 RH Map1125.31UniSTS
NCBI RH Map1292.7UniSTS
NCBI RH Map1292.8UniSTS
SHGC-74699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,722,092 - 40,722,294UniSTSGRCh37
Build 36140,494,679 - 40,494,881RGDNCBI36
Celera139,004,481 - 39,004,683RGD
Cytogenetic Map1p34UniSTS
HuRef138,840,893 - 38,841,095UniSTS
TNG Radiation Hybrid Map119306.0UniSTS
GeneMap99-GB4 RH Map1130.6UniSTS
NCBI RH Map1294.0UniSTS
RH93804  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,722,325 - 40,722,498UniSTSGRCh37
Build 36140,494,912 - 40,495,085RGDNCBI36
Celera139,004,714 - 39,004,887RGD
Cytogenetic Map1p34UniSTS
HuRef138,841,126 - 38,841,299UniSTS
GeneMap99-GB4 RH Map1125.31UniSTS
RH135308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,758,178 - 40,758,392UniSTSGRCh37
Build 36140,530,765 - 40,530,979RGDNCBI36
Celera139,040,573 - 39,040,787RGD
HuRef138,876,676 - 38,876,890UniSTS
SHGC-74731  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,722,990 - 40,723,160UniSTSGRCh37
Build 36140,495,577 - 40,495,747RGDNCBI36
Celera139,005,379 - 39,005,549RGD
Cytogenetic Map1p34UniSTS
HuRef138,841,791 - 38,841,961UniSTS
TNG Radiation Hybrid Map119306.0UniSTS
GeneMap99-GB4 RH Map1139.51UniSTS
A002U36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,759,569 - 40,759,713UniSTSGRCh37
Build 36140,532,156 - 40,532,300RGDNCBI36
Celera139,041,964 - 39,042,108RGD
Cytogenetic Map1p34UniSTS
HuRef138,878,067 - 38,878,211UniSTS
GeneMap99-GB4 RH Map1125.31UniSTS
NCBI RH Map1292.7UniSTS
SHGC-34567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,759,699 - 40,759,845UniSTSGRCh37
Build 36140,532,286 - 40,532,432RGDNCBI36
Celera139,042,094 - 39,042,240RGD
Cytogenetic Map1p34UniSTS
HuRef138,878,197 - 38,878,343UniSTS
GeneMap99-GB4 RH Map1122.95UniSTS
Whitehead-RH Map1121.4UniSTS
NCBI RH Map1292.7UniSTS
GeneMap99-G3 RH Map12272.0UniSTS
AL009542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37140,758,331 - 40,758,410UniSTSGRCh37
Build 36140,530,918 - 40,530,997RGDNCBI36
Celera139,040,726 - 39,040,805RGD
Cytogenetic Map1p34UniSTS
HuRef138,876,829 - 38,876,908UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:851
Count of miRNA genes:556
Interacting mature miRNAs:609
Transcripts:ENST00000372759, ENST00000472583, ENST00000474142, ENST00000479131
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 2
Medium 2417 2335 1659 570 1564 413 4023 1674 3184 395 1400 1599 170 1201 2462 5
Low 22 654 67 54 385 52 333 523 550 24 60 12 5 1 3 326 1 2
Below cutoff 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001736906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA436253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB016068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF064867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI003768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ782720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ782995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA398037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB096663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB285015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y13834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000372759   ⟹   ENSP00000361845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,258,236 - 40,294,180 (+)Ensembl
RefSeq Acc Id: ENST00000472583
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,258,239 - 40,267,836 (+)Ensembl
RefSeq Acc Id: ENST00000474142
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,290,645 - 40,292,621 (+)Ensembl
RefSeq Acc Id: ENST00000479131
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,258,236 - 40,262,905 (+)Ensembl
RefSeq Acc Id: ENST00000674703   ⟹   ENSP00000501674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,258,091 - 40,294,173 (+)Ensembl
RefSeq Acc Id: ENST00000675754   ⟹   ENSP00000502555
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,258,239 - 40,294,173 (+)Ensembl
RefSeq Acc Id: ENST00000675937   ⟹   ENSP00000502683
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl140,258,041 - 40,294,174 (+)Ensembl
RefSeq Acc Id: NM_005857   ⟹   NP_005848
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38140,258,236 - 40,294,180 (+)NCBI
GRCh37140,723,722 - 40,759,856 (+)NCBI
Build 36140,496,320 - 40,532,443 (+)NCBI Archive
HuRef138,842,523 - 38,878,354 (+)NCBI
CHM1_1140,839,331 - 40,875,788 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001736906
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38140,258,078 - 40,294,010 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005848   ⟸   NM_005857
- UniProtKB: O75844 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000361845   ⟸   ENST00000372759
RefSeq Acc Id: ENSP00000501674   ⟸   ENST00000674703
RefSeq Acc Id: ENSP00000502555   ⟸   ENST00000675754
RefSeq Acc Id: ENSP00000502683   ⟸   ENST00000675937

Promoters
RGD ID:6855122
Promoter ID:EPDNEW_H716
Type:initiation region
Name:ZMPSTE24_2
Description:zinc metallopeptidase STE24
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H717  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38140,258,061 - 40,258,121EPDNEW
RGD ID:6855104
Promoter ID:EPDNEW_H717
Type:initiation region
Name:ZMPSTE24_1
Description:zinc metallopeptidase STE24
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H716  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38140,258,236 - 40,258,296EPDNEW
RGD ID:6787140
Promoter ID:HG_KWN:2199
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:NM_005857,   OTTHUMT00000319378,   OTTHUMT00000319379,   UC001CFF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36140,493,701 - 40,496,562 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005857.5(ZMPSTE24):c.54dup (p.Ile19fs) duplication Lethal tight skin contracture syndrome [RCV000023548]|not provided [RCV000128744] Chr1:40258324..40258325 [GRCh38]
Chr1:40723996..40723997 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005857.5(ZMPSTE24):c.591dup (p.Ile198fs) duplication Lethal tight skin contracture syndrome [RCV000023549]|not provided [RCV000128745] Chr1:40270084..40270085 [GRCh38]
Chr1:40735756..40735757 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005857.5(ZMPSTE24):c.1349G>A (p.Trp450Ter) single nucleotide variant Mandibuloacral dysplasia with type B lipodystrophy [RCV000023550]|not provided [RCV000128732] Chr1:40292590 [GRCh38]
Chr1:40758262 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005857.5(ZMPSTE24):c.50del (p.Lys17fs) deletion Lethal tight skin contracture syndrome [RCV000034313]|not provided [RCV000128743] Chr1:40258320 [GRCh38]
Chr1:40723992 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005857.5(ZMPSTE24):c.584_585del (p.Tyr195fs) deletion Lethal tight skin contracture syndrome [RCV000034314] Chr1:40270083..40270084 [GRCh38]
Chr1:40735755..40735756 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005857.4(ZMPSTE24):c.1085dupT (p.Leu362Phefs) duplication Lethal tight skin contracture syndrome [RCV000023547]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000004492]|ZMPSTE24-Related Disorders [RCV000335839]|not provided [RCV000128723] Chr1:40290870..40290871 [GRCh38]
Chr1:40756542..40756543 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005857.5(ZMPSTE24):c.1018T>C (p.Trp340Arg) single nucleotide variant Mandibuloacral dysplasia with type B lipodystrophy [RCV000004493]|not provided [RCV000128719] Chr1:40285988 [GRCh38]
Chr1:40751660 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005857.5(ZMPSTE24):c.121C>T (p.Gln41Ter) single nucleotide variant Mandibuloacral dysplasia with type B lipodystrophy [RCV000004495]|not provided [RCV000128727] Chr1:40258392 [GRCh38]
Chr1:40724064 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005857.5(ZMPSTE24):c.743C>T (p.Pro248Leu) single nucleotide variant Mandibuloacral dysplasia with type B lipodystrophy [RCV000004496]|not provided [RCV000128756] Chr1:40272009 [GRCh38]
Chr1:40737681 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005857.5(ZMPSTE24):c.715G>T (p.Glu239Ter) single nucleotide variant Lethal tight skin contracture syndrome [RCV000004497]|not provided [RCV000128755] Chr1:40271981 [GRCh38]
Chr1:40737653 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005857.5(ZMPSTE24):c.750G>A (p.Thr250=) single nucleotide variant not provided [RCV000728914] Chr1:40272016 [GRCh38]
Chr1:40737688 [GRCh37]
Chr1:1p34.2
conflicting interpretations of pathogenicity|uncertain significance
NM_005857.5(ZMPSTE24):c.644A>G (p.Tyr215Cys) single nucleotide variant not provided [RCV000594062] Chr1:40271910 [GRCh38]
Chr1:40737582 [GRCh37]
Chr1:1p34.2
uncertain 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
NM_005857.5(ZMPSTE24):c.325T>G (p.Cys109Gly) single nucleotide variant Lethal tight skin contracture syndrome [RCV000359585]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000304896]|not provided [RCV000118907] Chr1:40267840 [GRCh38]
Chr1:40733512 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=) single nucleotide variant Lethal tight skin contracture syndrome [RCV000268676]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000363486]|not provided [RCV000128752]|not specified [RCV000081333] Chr1:40271917 [GRCh38]
Chr1:40737589 [GRCh37]
Chr1:1p34.2
benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
Single allele duplication Lethal tight skin contracture syndrome [RCV000173816]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000173817] Chr1:40758176..40758177 [GRCh37] pathogenic
NM_005857.5(ZMPSTE24):c.1204-5_1210del deletion not provided [RCV000128726] Chr1:40292434..40292445 [GRCh38]
Chr1:40758106..40758117 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.627+1G>C single nucleotide variant not provided [RCV000128748] Chr1:40270128 [GRCh38]
Chr1:40735800 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.*723C>T single nucleotide variant Lethal tight skin contracture syndrome [RCV000291891]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000399297]|not provided [RCV000128710] Chr1:40293392 [GRCh38]
Chr1:40759064 [GRCh37]
Chr1:1p34.2
benign|likely benign|not provided
NM_005857.5(ZMPSTE24):c.*890A>G single nucleotide variant Lethal tight skin contracture syndrome [RCV000344466]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000392477]|not provided [RCV000128711] Chr1:40293559 [GRCh38]
Chr1:40759231 [GRCh37]
Chr1:1p34.2
benign|likely benign|not provided
NM_005857.4(ZMPSTE24):c.-211-938G>A single nucleotide variant not provided [RCV000128712] Chr1:40257123 [GRCh38]
Chr1:40722795 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.4(ZMPSTE24):c.-211-1058C>G single nucleotide variant not provided [RCV000128713] Chr1:40257003 [GRCh38]
Chr1:40722675 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.4(ZMPSTE24):c.-194A>G single nucleotide variant not provided [RCV000128714] Chr1:40258078 [GRCh38]
Chr1:40723750 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.4(ZMPSTE24):c.-211-115G>A single nucleotide variant not provided [RCV000128715] Chr1:40257946 [GRCh38]
Chr1:40723618 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.4(ZMPSTE24):c.-211-159G>T single nucleotide variant not provided [RCV000128716] Chr1:40257902 [GRCh38]
Chr1:40723574 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.4(ZMPSTE24):c.-211-311C>G single nucleotide variant not provided [RCV000128717] Chr1:40257750 [GRCh38]
Chr1:40723422 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.4(ZMPSTE24):c.-211-743G>C single nucleotide variant not provided [RCV000128718] Chr1:40257318 [GRCh38]
Chr1:40722990 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.1020G>A (p.Trp340Ter) single nucleotide variant not provided [RCV000128720] Chr1:40285990 [GRCh38]
Chr1:40751662 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.1035A>G (p.Thr345=) single nucleotide variant not provided [RCV000128721] Chr1:40286005 [GRCh38]
Chr1:40751677 [GRCh37]
Chr1:1p34.2
likely benign|not provided
NM_005857.5(ZMPSTE24):c.1059+61G>A single nucleotide variant not provided [RCV000128722] Chr1:40286090 [GRCh38]
Chr1:40751762 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.1105C>T (p.Arg369Ter) single nucleotide variant not provided [RCV000128724] Chr1:40290899 [GRCh38]
Chr1:40756571 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.1204-1G>A single nucleotide variant not provided [RCV000128725] Chr1:40292444 [GRCh38]
Chr1:40758116 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005857.5(ZMPSTE24):c.124-2A>C single nucleotide variant not provided [RCV000128728] Chr1:40260837 [GRCh38]
Chr1:40726509 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.1249C>T (p.Gln417Ter) single nucleotide variant not provided [RCV000128729] Chr1:40292490 [GRCh38]
Chr1:40758162 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.1263dup (p.Ala422fs) duplication not provided [RCV000128730] Chr1:40292501..40292502 [GRCh38]
Chr1:40758173..40758174 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005857.5(ZMPSTE24):c.1312C>T (p.Leu438Phe) single nucleotide variant not provided [RCV000128731] Chr1:40292553 [GRCh38]
Chr1:40758225 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.1356C>G (p.Phe452Leu) single nucleotide variant not provided [RCV000128733] Chr1:40292597 [GRCh38]
Chr1:40758269 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.1385T>G (p.Leu462Arg) single nucleotide variant not provided [RCV000128734] Chr1:40292626 [GRCh38]
Chr1:40758298 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.207_208del (p.Tyr70fs) microsatellite not provided [RCV000128735] Chr1:40260920..40260921 [GRCh38]
Chr1:40726592..40726593 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.209_210del (p.Tyr70fs) deletion not provided [RCV000128736] Chr1:40260923..40260924 [GRCh38]
Chr1:40726595..40726596 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.281T>C (p.Leu94Pro) single nucleotide variant not provided [RCV000128737] Chr1:40267796 [GRCh38]
Chr1:40733468 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.296del (p.Pro99fs) deletion not provided [RCV000128738] Chr1:40267810 [GRCh38]
Chr1:40733482 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.357+114A>G single nucleotide variant not provided [RCV000128739] Chr1:40267986 [GRCh38]
Chr1:40733658 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.401del (p.Ser134fs) deletion not provided [RCV000128740] Chr1:40268462 [GRCh38]
Chr1:40734134 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.474+83A>C single nucleotide variant not provided [RCV000128741] Chr1:40268618 [GRCh38]
Chr1:40734290 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.475-2A>G single nucleotide variant not provided [RCV000128742] Chr1:40269973 [GRCh38]
Chr1:40735645 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005857.4(ZMPSTE24):c.50delA (p.Lys17Serfs) deletion not provided [RCV000128743] Chr1:40258321 [GRCh38]
Chr1:40723993 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.592_593del (p.Ile198fs) deletion not provided [RCV000128746] Chr1:40270091..40270092 [GRCh38]
Chr1:40735763..40735764 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.627+18T>G single nucleotide variant not provided [RCV000128747]|not specified [RCV000251415] Chr1:40270145 [GRCh38]
Chr1:40735817 [GRCh37]
Chr1:1p34.2
benign|not provided
NM_005857.5(ZMPSTE24):c.628-2A>G single nucleotide variant not provided [RCV000128749] Chr1:40271892 [GRCh38]
Chr1:40737564 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.628-50T>C single nucleotide variant not provided [RCV000128750] Chr1:40271844 [GRCh38]
Chr1:40737516 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.628-50T>G single nucleotide variant not provided [RCV000128751]|not specified [RCV000244653] Chr1:40271844 [GRCh38]
Chr1:40737516 [GRCh37]
Chr1:1p34.2
benign|not provided
NM_005857.5(ZMPSTE24):c.691G>T (p.Glu231Ter) single nucleotide variant not provided [RCV000128753] Chr1:40271957 [GRCh38]
Chr1:40737629 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.709G>T (p.Glu237Ter) single nucleotide variant not provided [RCV000128754] Chr1:40271975 [GRCh38]
Chr1:40737647 [GRCh37]
Chr1:1p34.2
pathogenic|not provided
NM_005857.5(ZMPSTE24):c.769+4192C>T single nucleotide variant not provided [RCV000128757] Chr1:40276227 [GRCh38]
Chr1:40741899 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.770-131T>C single nucleotide variant not provided [RCV000128758] Chr1:40281212 [GRCh38]
Chr1:40746884 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.794A>G (p.Asn265Ser) single nucleotide variant not provided [RCV000128759] Chr1:40281367 [GRCh38]
Chr1:40747039 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.826C>T (p.Arg276Ter) single nucleotide variant not provided [RCV000128760] Chr1:40281399 [GRCh38]
Chr1:40747071 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.954+2T>A single nucleotide variant not provided [RCV000128761] Chr1:40281529 [GRCh38]
Chr1:40747201 [GRCh37]
Chr1:1p34.2
not provided
NM_005857.5(ZMPSTE24):c.990C>T (p.Leu330=) single nucleotide variant Lethal tight skin contracture syndrome [RCV001098657]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001098656]|not provided [RCV000128762] Chr1:40285960 [GRCh38]
Chr1:40751632 [GRCh37]
Chr1:1p34.2
benign|not provided
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
NM_005857.5(ZMPSTE24):c.1106G>A (p.Arg369Gln) single nucleotide variant Lethal tight skin contracture syndrome [RCV000286716]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000402216]|not provided [RCV000900421] Chr1:40290900 [GRCh38]
Chr1:40756572 [GRCh37]
Chr1:1p34.2
benign|uncertain significance
NM_005857.5(ZMPSTE24):c.237C>T (p.Phe79=) single nucleotide variant Lethal tight skin contracture syndrome [RCV000268352]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000353857]|not provided [RCV000894667] Chr1:40260952 [GRCh38]
Chr1:40726624 [GRCh37]
Chr1:1p34.2
benign|likely benign|uncertain significance
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_005857.5(ZMPSTE24):c.770-14T>C single nucleotide variant Lethal tight skin contracture syndrome [RCV000387860]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000333363] Chr1:40281329 [GRCh38]
Chr1:40747001 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*678G>C single nucleotide variant Lethal tight skin contracture syndrome [RCV000278101]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000375075] Chr1:40293347 [GRCh38]
Chr1:40759019 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005857.5(ZMPSTE24):c.-46G>A single nucleotide variant Lethal tight skin contracture syndrome [RCV000407351]|Mandibuloacral dysplasia [RCV000351669]|not provided [RCV000767313] Chr1:40258226 [GRCh38]
Chr1:40723898 [GRCh37]
Chr1:1p34.2
uncertain significance|not provided
NM_005857.5(ZMPSTE24):c.*521A>G single nucleotide variant Lethal tight skin contracture syndrome [RCV000333378]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000367157] Chr1:40293190 [GRCh38]
Chr1:40758862 [GRCh37]
Chr1:1p34.2
benign|uncertain significance
NM_005857.4(ZMPSTE24):c.-181A>G single nucleotide variant Lethal tight skin contracture syndrome [RCV000321205]|Mandibuloacral dysplasia [RCV000385121] Chr1:40258091 [GRCh38]
Chr1:40723763 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.4(ZMPSTE24):c.-172A>C single nucleotide variant Lethal tight skin contracture syndrome [RCV000345711]|Mandibuloacral dysplasia [RCV000290774] Chr1:40258100 [GRCh38]
Chr1:40723772 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*59C>A single nucleotide variant Lethal tight skin contracture syndrome [RCV000408280]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000341728] Chr1:40292728 [GRCh38]
Chr1:40758400 [GRCh37]
Chr1:1p34.2
benign|uncertain significance
NM_005857.5(ZMPSTE24):c.-13G>A single nucleotide variant Lethal tight skin contracture syndrome [RCV000338873]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000312040] Chr1:40258259 [GRCh38]
Chr1:40723931 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.1050T>C (p.Ile350=) single nucleotide variant Lethal tight skin contracture syndrome [RCV000375255]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000280702] Chr1:40286020 [GRCh38]
Chr1:40751692 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.818del (p.Lys273fs) deletion not provided [RCV000287035] Chr1:40281390 [GRCh38]
Chr1:40747062 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005857.5(ZMPSTE24):c.555A>G (p.Leu185=) single nucleotide variant Lethal tight skin contracture syndrome [RCV000327455]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000272347] Chr1:40270055 [GRCh38]
Chr1:40735727 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.933A>G (p.Glu311=) single nucleotide variant not provided [RCV000348508] Chr1:40281506 [GRCh38]
Chr1:40747178 [GRCh37]
Chr1:1p34.2
conflicting interpretations of pathogenicity|uncertain significance
NM_005857.5(ZMPSTE24):c.*1492A>G single nucleotide variant Lethal tight skin contracture syndrome [RCV000355792]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000263864] Chr1:40294161 [GRCh38]
Chr1:40759833 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*536C>T single nucleotide variant Lethal tight skin contracture syndrome [RCV000318105]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000274919] Chr1:40293205 [GRCh38]
Chr1:40758877 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*296T>C single nucleotide variant Lethal tight skin contracture syndrome [RCV000276054]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000363740] Chr1:40292965 [GRCh38]
Chr1:40758637 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.4(ZMPSTE24):c.-185C>G single nucleotide variant Lethal tight skin contracture syndrome [RCV000378559]|Mandibuloacral dysplasia [RCV000265347] Chr1:40258087 [GRCh38]
Chr1:40723759 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*181_*184GAAT[1] microsatellite Lethal tight skin contracture syndrome [RCV000364977]|Mandibuloacral dysplasia [RCV000303317] Chr1:40292849..40292852 [GRCh38]
Chr1:40758521..40758524 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.951_954+2del microsatellite Lethal tight skin contracture syndrome [RCV000329774]|Mandibuloacral dysplasia [RCV000293484]|not provided [RCV000597416] Chr1:40281518..40281523 [GRCh38]
Chr1:40747190..40747195 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*696A>G single nucleotide variant Lethal tight skin contracture syndrome [RCV000316798]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000378621] Chr1:40293365 [GRCh38]
Chr1:40759037 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*212G>T single nucleotide variant Lethal tight skin contracture syndrome [RCV000306674]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000408275] Chr1:40292881 [GRCh38]
Chr1:40758553 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.4(ZMPSTE24):c.-55C>G single nucleotide variant Lethal tight skin contracture syndrome [RCV000296701]|Mandibuloacral dysplasia [RCV000381739] Chr1:40258217 [GRCh38]
Chr1:40723889 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*702C>T single nucleotide variant Lethal tight skin contracture syndrome [RCV000286528]|Mandibuloacral dysplasia [RCV000339111] Chr1:40293371 [GRCh38]
Chr1:40759043 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.30G>T (p.Leu10Phe) single nucleotide variant Lethal tight skin contracture syndrome [RCV000407338]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000299107] Chr1:40258301 [GRCh38]
Chr1:40723973 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*1313T>C single nucleotide variant Lethal tight skin contracture syndrome [RCV000312710]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000392483] Chr1:40293982 [GRCh38]
Chr1:40759654 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*1140T>C single nucleotide variant Lethal tight skin contracture syndrome [RCV000371246]|Mandibuloacral dysplasia with type B lipodystrophy [RCV000314242] Chr1:40293809 [GRCh38]
Chr1:40759481 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.574G>A (p.Gly192Arg) single nucleotide variant not provided [RCV000722486] Chr1:40270074 [GRCh38]
Chr1:40735746 [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
NM_005857.5(ZMPSTE24):c.8T>C (p.Met3Thr) single nucleotide variant not specified [RCV000503098] Chr1:40258279 [GRCh38]
Chr1:40723951 [GRCh37]
Chr1:1p34.2
likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_005857.4(ZMPSTE24):c.1077dup (p.Leu362Phefs) duplication Lethal tight skin contracture syndrome [RCV000626059] Chr1:40290871 [GRCh38]
Chr1:40756543 [GRCh37]
Chr1:1p34.2
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 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
NM_005857.5(ZMPSTE24):c.1097T>G (p.Leu366Ter) single nucleotide variant not provided [RCV000760724] Chr1:40290891 [GRCh38]
Chr1:40756563 [GRCh37]
Chr1:1p34.2
pathogenic
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
NM_005857.5(ZMPSTE24):c.954+3G>A single nucleotide variant not provided [RCV000905949] Chr1:40281530 [GRCh38]
Chr1:40747202 [GRCh37]
Chr1:1p34.2
benign
NM_005857.5(ZMPSTE24):c.453A>G (p.Glu151=) single nucleotide variant Lethal tight skin contracture syndrome [RCV001102302]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001102301]|not provided [RCV000903674] Chr1:40268514 [GRCh38]
Chr1:40734186 [GRCh37]
Chr1:1p34.2
benign
NM_005857.5(ZMPSTE24):c.1165T>C (p.Leu389=) single nucleotide variant Lethal tight skin contracture syndrome [RCV001100458]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001100459]|not provided [RCV000899944] Chr1:40290959 [GRCh38]
Chr1:40756631 [GRCh37]
Chr1:1p34.2
likely benign|uncertain significance
NM_005857.5(ZMPSTE24):c.1086A>G (p.Leu362=) single nucleotide variant not provided [RCV000901343] Chr1:40290880 [GRCh38]
Chr1:40756552 [GRCh37]
Chr1:1p34.2
likely benign
NM_005857.5(ZMPSTE24):c.535T>C (p.Leu179=) single nucleotide variant not provided [RCV000898036] Chr1:40270035 [GRCh38]
Chr1:40735707 [GRCh37]
Chr1:1p34.2
benign
NM_005857.5(ZMPSTE24):c.42G>A (p.Pro14=) single nucleotide variant not provided [RCV000929604] Chr1:40258313 [GRCh38]
Chr1:40723985 [GRCh37]
Chr1:1p34.2
likely benign
NM_005857.5(ZMPSTE24):c.810C>T (p.Gly270=) single nucleotide variant not provided [RCV000919534] Chr1:40281383 [GRCh38]
Chr1:40747055 [GRCh37]
Chr1:1p34.2
likely benign
NM_005857.5(ZMPSTE24):c.1338T>C (p.Pro446=) single nucleotide variant not provided [RCV000960818] Chr1:40292579 [GRCh38]
Chr1:40758251 [GRCh37]
Chr1:1p34.2
likely benign
NM_005857.5(ZMPSTE24):c.955-1G>A single nucleotide variant not specified [RCV000825651] Chr1:40285924 [GRCh38]
Chr1:40751596 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.474G>A (p.Gln158=) single nucleotide variant Lethal tight skin contracture syndrome [RCV001096899]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001102305] Chr1:40268535 [GRCh38]
Chr1:40734207 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.1028G>A (p.Gly343Glu) single nucleotide variant Lethal tight skin contracture syndrome [RCV001098658]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001098659] Chr1:40285998 [GRCh38]
Chr1:40751670 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.243A>G (p.Ser81=) single nucleotide variant not provided [RCV000894982] Chr1:40260958 [GRCh38]
Chr1:40726630 [GRCh37]
Chr1:1p34.2
likely benign
NM_005857.5(ZMPSTE24):c.870A>G (p.Leu290=) single nucleotide variant not provided [RCV000916268] Chr1:40281443 [GRCh38]
Chr1:40747115 [GRCh37]
Chr1:1p34.2
likely benign
NM_005857.5(ZMPSTE24):c.715G>A (p.Glu239Lys) single nucleotide variant Lethal tight skin contracture syndrome [RCV001096900]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001096901] Chr1:40271981 [GRCh38]
Chr1:40737653 [GRCh37]
Chr1:1p34.2
uncertain significance
GRCh37/hg19 1p34.2(chr1:40657779-40758399)x3 copy number gain not provided [RCV000846319] Chr1:40657779..40758399 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*663T>G single nucleotide variant Lethal tight skin contracture syndrome [RCV001097010]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001097011] Chr1:40293332 [GRCh38]
Chr1:40759004 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.1248dup (p.Gln417fs) duplication not provided [RCV001008530] Chr1:40292486..40292487 [GRCh38]
Chr1:40758158..40758159 [GRCh37]
Chr1:1p34.2
likely pathogenic
NM_005857.5(ZMPSTE24):c.1060-6_1085del deletion Lethal tight skin contracture syndrome [RCV000986288] Chr1:40290847..40290878 [GRCh38]
Chr1:40756519..40756550 [GRCh37]
Chr1:1p34.2
pathogenic
NM_005857.5(ZMPSTE24):c.*710T>C single nucleotide variant Lethal tight skin contracture syndrome [RCV001098749]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001098750] Chr1:40293379 [GRCh38]
Chr1:40759051 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.19C>T (p.Leu7=) single nucleotide variant not provided [RCV000879009] Chr1:40258290 [GRCh38]
Chr1:40723962 [GRCh37]
Chr1:1p34.2
likely benign
NM_005857.5(ZMPSTE24):c.861C>T (p.Tyr287=) single nucleotide variant not provided [RCV000939226] Chr1:40281434 [GRCh38]
Chr1:40747106 [GRCh37]
Chr1:1p34.2
likely benign
NM_005857.5(ZMPSTE24):c.358-7T>C single nucleotide variant not provided [RCV000917847] Chr1:40268412 [GRCh38]
Chr1:40734084 [GRCh37]
Chr1:1p34.2
likely benign
NM_005857.5(ZMPSTE24):c.850C>T (p.Leu284=) single nucleotide variant not provided [RCV000932257] Chr1:40281423 [GRCh38]
Chr1:40747095 [GRCh37]
Chr1:1p34.2
likely benign
NM_005857.5(ZMPSTE24):c.1104T>C (p.Gly368=) single nucleotide variant not provided [RCV000934654] Chr1:40290898 [GRCh38]
Chr1:40756570 [GRCh37]
Chr1:1p34.2
likely benign
NM_005857.5(ZMPSTE24):c.828A>T (p.Arg276=) single nucleotide variant not provided [RCV000933912] Chr1:40281401 [GRCh38]
Chr1:40747073 [GRCh37]
Chr1:1p34.2
likely benign
NM_005857.5(ZMPSTE24):c.*1503G>A single nucleotide variant Lethal tight skin contracture syndrome [RCV001097105]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001097104] Chr1:40294172 [GRCh38]
Chr1:40759844 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*38T>C single nucleotide variant Lethal tight skin contracture syndrome [RCV001102413]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001100464] Chr1:40292707 [GRCh38]
Chr1:40758379 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*909G>A single nucleotide variant Lethal tight skin contracture syndrome [RCV001100569]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001100570] Chr1:40293578 [GRCh38]
Chr1:40759250 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*248G>A single nucleotide variant Lethal tight skin contracture syndrome [RCV001102414]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001102415] Chr1:40292917 [GRCh38]
Chr1:40758589 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*1462A>C single nucleotide variant Lethal tight skin contracture syndrome [RCV001102511]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001097103] Chr1:40294131 [GRCh38]
Chr1:40759803 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*1240A>G single nucleotide variant Lethal tight skin contracture syndrome [RCV001102509]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001102510] Chr1:40293909 [GRCh38]
Chr1:40759581 [GRCh37]
Chr1:1p34.2
likely benign
NM_005857.5(ZMPSTE24):c.*733A>G single nucleotide variant Lethal tight skin contracture syndrome [RCV001098751]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001100566] Chr1:40293402 [GRCh38]
Chr1:40759074 [GRCh37]
Chr1:1p34.2
likely benign
NM_005857.5(ZMPSTE24):c.52C>T (p.Arg18Cys) single nucleotide variant Lethal tight skin contracture syndrome [RCV001100333]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001100332] Chr1:40258323 [GRCh38]
Chr1:40723995 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.1277G>A (p.Gly426Glu) single nucleotide variant Lethal tight skin contracture syndrome [RCV001100462]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001100463] Chr1:40292518 [GRCh38]
Chr1:40758190 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*1042G>A single nucleotide variant Lethal tight skin contracture syndrome [RCV001100571]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001102508] Chr1:40293711 [GRCh38]
Chr1:40759383 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.467A>G (p.Asn156Ser) single nucleotide variant Lethal tight skin contracture syndrome [RCV001102304]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001102303] Chr1:40268528 [GRCh38]
Chr1:40734200 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.1259C>G (p.Ala420Gly) single nucleotide variant Lethal tight skin contracture syndrome [RCV001100460]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001100461] Chr1:40292500 [GRCh38]
Chr1:40758172 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.*800T>C single nucleotide variant Lethal tight skin contracture syndrome [RCV001100567]|Mandibuloacral dysplasia with type B lipodystrophy [RCV001100568] Chr1:40293469 [GRCh38]
Chr1:40759141 [GRCh37]
Chr1:1p34.2
uncertain significance
NM_005857.5(ZMPSTE24):c.807dup (p.Gly270fs) duplication Mandibuloacral dysplasia with type B lipodystrophy [RCV001334456] Chr1:40281379..40281380 [GRCh38]
Chr1:40747051..40747052 [GRCh37]
Chr1:1p34.2
pathogenic
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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12877 AgrOrtholog
COSMIC ZMPSTE24 COSMIC
Ensembl Genes ENSG00000084073 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000361845 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501674 UniProtKB/TrEMBL
  ENSP00000502555 UniProtKB/TrEMBL
  ENSP00000502683 UniProtKB/TrEMBL
Ensembl Transcript ENST00000372759 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000674703 UniProtKB/TrEMBL
  ENST00000675754 UniProtKB/TrEMBL
  ENST00000675937 ENTREZGENE, UniProtKB/TrEMBL
GTEx ENSG00000084073 GTEx
HGNC ID HGNC:12877 ENTREZGENE
Human Proteome Map ZMPSTE24 Human Proteome Map
InterPro CAXX_Prtase_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M48 UniProtKB/Swiss-Prot
  Peptidase_M48_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10269 UniProtKB/Swiss-Prot
NCBI Gene 10269 ENTREZGENE
OMIM 275210 OMIM
  606480 OMIM
  608612 OMIM
PANTHER PTHR10120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_M48 UniProtKB/Swiss-Prot
  Peptidase_M48_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37466 PharmGKB
UniProt A0A6Q8PF67_HUMAN UniProtKB/TrEMBL
  A0A6Q8PH40_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHG9_HUMAN UniProtKB/TrEMBL
  FACE1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B3KQI7 UniProtKB/Swiss-Prot
  D3DPU7 UniProtKB/Swiss-Prot
  Q8NDZ8 UniProtKB/Swiss-Prot
  Q9UBQ2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-12-12 ZMPSTE24  zinc metallopeptidase STE24  ZMPSTE24  zinc metallopeptidase STE24 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2012-03-20 ZMPSTE24  zinc metallopeptidase STE24 homolog (S. cerevisiae)  ZMPSTE24  zinc metallopeptidase (STE24 homolog, S. cerevisiae)  Symbol and/or name change 5135510 APPROVED