ESPL1 (extra spindle pole bodies like 1, separase) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: ESPL1 (extra spindle pole bodies like 1, separase) Homo sapiens
Analyze
Symbol: ESPL1
Name: extra spindle pole bodies like 1, separase
RGD ID: 1314788
HGNC Page HGNC:16856
Description: Predicted to enable cysteine-type endopeptidase activity. Involved in mitotic sister chromatid segregation. Located in centrosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: caspase-like protein ESPL1; ESP1; extra spindle pole bodies 1, separase; extra spindle pole bodies homolog 1; extra spindle poles like 1; extra spindle poles like 1 (s. cerevisiae); extra spindle poles-like 1 protein; FLJ46492; KIAA0165; SEPA; separin; separin, cysteine protease
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381253,268,299 - 53,293,638 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1253,268,299 - 53,293,638 (+)EnsemblGRCh38hg38GRCh38
GRCh371253,662,083 - 53,687,422 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361251,948,350 - 51,973,694 (+)NCBINCBI36Build 36hg18NCBI36
Build 341251,948,817 - 51,973,694NCBI
Celera1253,311,187 - 53,336,713 (+)NCBICelera
Cytogenetic Map12q13.13NCBI
HuRef1250,703,798 - 50,728,935 (+)NCBIHuRef
CHM1_11253,628,380 - 53,653,869 (+)NCBICHM1_1
T2T-CHM13v2.01253,233,854 - 53,259,351 (+)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
1,1-dichloroethene  (ISO)
1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,4'-trichlorobiphenyl  (ISO)
2,4-diaminotoluene  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-methylcholanthrene  (ISO)
4-hydroxynon-2-enal  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (ISO)
alpha-amanitin  (ISO)
amitrole  (ISO)
antirheumatic drug  (EXP)
arsenite(3-)  (EXP)
atrazine  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol A diglycidyl ether  (ISO)
bisphenol AF  (ISO)
bleomycin A2  (ISO)
butanal  (EXP)
caffeine  (EXP)
calcitriol  (EXP)
cannabidiol  (ISO)
carbon nanotube  (ISO)
cefaloridine  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dexamethasone  (ISO)
diallyl trisulfide  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dieldrin  (ISO)
dioxygen  (EXP)
doxorubicin  (ISO)
Echimidine  (EXP)
Enterolactone  (EXP)
folic acid  (EXP,ISO)
FR900359  (EXP)
fulvestrant  (EXP)
furan  (ISO)
genistein  (ISO)
gentamycin  (ISO)
geraniol  (EXP)
glyphosate  (EXP)
GW 4064  (EXP)
L-methionine  (ISO)
Lasiocarpine  (EXP)
lead(0)  (EXP)
leflunomide  (EXP)
lidocaine  (ISO)
lucanthone  (EXP)
methimazole  (ISO)
monocrotaline  (EXP)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
nickel dichloride  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
okadaic acid  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenethyl isothiocyanate  (EXP)
phenobarbital  (ISO)
phytoestrogen  (EXP)
pirinixic acid  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
propanal  (EXP)
resveratrol  (EXP)
riddelliine  (EXP)
silicon dioxide  (ISO)
sirolimus  (EXP)
sodium arsenite  (EXP,ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
troglitazone  (EXP)
trovafloxacin  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
centrosome  (IBA,IDA)
cytoplasm  (IBA,IEA)
cytosol  (TAS)
mitotic spindle  (IBA)
nucleus  (IBA,IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8724849   PMID:10411507   PMID:11509732   PMID:11747808   PMID:11875078   PMID:12194817   PMID:12297314   PMID:12477932   PMID:12672959   PMID:15302935   PMID:15342556   PMID:15880121  
PMID:15989971   PMID:16177575   PMID:16258266   PMID:17102637   PMID:17604273   PMID:17974570   PMID:18003702   PMID:18616699   PMID:18728194   PMID:19008095   PMID:19117984   PMID:19342897  
PMID:19345191   PMID:19351757   PMID:19758559   PMID:20360068   PMID:20508983   PMID:21041660   PMID:21126432   PMID:21272169   PMID:21873635   PMID:22542101   PMID:22626734   PMID:22658674  
PMID:22814604   PMID:23383273   PMID:23798554   PMID:24781523   PMID:24792645   PMID:25086634   PMID:25299182   PMID:25750436   PMID:25921067   PMID:26087013   PMID:26186194   PMID:26267133  
PMID:26496610   PMID:26514267   PMID:26673895   PMID:27495871   PMID:27966791   PMID:28514442   PMID:28675297   PMID:28859055   PMID:29370237   PMID:29507755   PMID:29568061   PMID:30021884  
PMID:30232004   PMID:30305303   PMID:30674583   PMID:31073040   PMID:31091453   PMID:31729382   PMID:32253454   PMID:32322059   PMID:32322060   PMID:32574725   PMID:32877691   PMID:33282948  
PMID:33308056   PMID:33957083   PMID:33961781   PMID:34011540   PMID:34079125   PMID:34180834   PMID:34244565   PMID:34290405   PMID:34299191   PMID:34373451   PMID:34672954   PMID:35271311  
PMID:35563538   PMID:35748872   PMID:35915203   PMID:36232890   PMID:36736316   PMID:37140261   PMID:37827155   PMID:38568742  


Genomics

Comparative Map Data
ESPL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381253,268,299 - 53,293,638 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1253,268,299 - 53,293,638 (+)EnsemblGRCh38hg38GRCh38
GRCh371253,662,083 - 53,687,422 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361251,948,350 - 51,973,694 (+)NCBINCBI36Build 36hg18NCBI36
Build 341251,948,817 - 51,973,694NCBI
Celera1253,311,187 - 53,336,713 (+)NCBICelera
Cytogenetic Map12q13.13NCBI
HuRef1250,703,798 - 50,728,935 (+)NCBIHuRef
CHM1_11253,628,380 - 53,653,869 (+)NCBICHM1_1
T2T-CHM13v2.01253,233,854 - 53,259,351 (+)NCBIT2T-CHM13v2.0
Espl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3915102,204,688 - 102,232,792 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl15102,204,701 - 102,232,792 (+)EnsemblGRCm39 Ensembl
GRCm3815102,296,254 - 102,324,357 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl15102,296,266 - 102,324,357 (+)EnsemblGRCm38mm10GRCm38
MGSCv3715102,126,724 - 102,154,787 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3615102,124,359 - 102,152,390 (+)NCBIMGSCv36mm8
Celera15104,453,712 - 104,481,413 (+)NCBICelera
Cytogenetic Map15F2NCBI
cM Map1557.45NCBI
Espl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87135,302,460 - 135,329,570 (+)NCBIGRCr8
mRatBN7.27133,424,027 - 133,450,984 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7133,424,130 - 133,450,984 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7135,185,119 - 135,211,984 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07137,414,499 - 137,441,364 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07137,399,660 - 137,426,528 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07143,896,890 - 143,923,868 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7143,897,014 - 143,923,868 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07141,692,925 - 141,719,617 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.07143,153,049 - 143,161,944 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47141,048,197 - 141,074,383 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17141,126,857 - 141,150,662 (+)NCBI
Celera7129,857,507 - 129,884,392 (+)NCBICelera
Cytogenetic Map7q36NCBI
Espl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955458530,797 - 553,985 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955458530,269 - 553,919 (+)NCBIChiLan1.0ChiLan1.0
ESPL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21040,892,230 - 40,918,541 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11240,887,281 - 40,915,313 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01235,460,500 - 35,486,794 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11236,241,364 - 36,266,594 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1236,241,533 - 36,266,101 (-)Ensemblpanpan1.1panPan2
ESPL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1271,911,179 - 1,934,446 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl271,911,193 - 1,933,807 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2744,314,872 - 44,338,083 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0271,915,651 - 1,938,901 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl271,915,665 - 1,938,966 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1271,933,939 - 1,957,164 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0271,918,870 - 1,942,108 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02744,715,570 - 44,738,805 (+)NCBIUU_Cfam_GSD_1.0
Espl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494562,588,213 - 62,619,030 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651210,556,672 - 10,576,588 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651210,556,269 - 10,576,582 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ESPL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl518,487,052 - 18,509,913 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1518,486,969 - 18,509,913 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2518,922,397 - 18,945,652 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ESPL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11149,374,333 - 49,401,801 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666037196,658,194 - 196,684,208 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Espl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249041,305,000 - 1,330,761 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249041,305,040 - 1,330,505 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ESPL1
138 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q13.13(chr12:53099658-53724525)x1 copy number loss See cases [RCV000052811] Chr12:53099658..53724525 [GRCh38]
Chr12:53493442..54118309 [GRCh37]
Chr12:51779709..52404576 [NCBI36]
Chr12:12q13.13		 pathogenic
GRCh38/hg38 12q13.13(chr12:53224024-54222450)x1 copy number loss See cases [RCV000052812] Chr12:53224024..54222450 [GRCh38]
Chr12:53617808..54616234 [GRCh37]
Chr12:51904075..52902501 [NCBI36]
Chr12:12q13.13		 pathogenic
NM_012291.4(ESPL1):c.301C>T (p.Leu101Phe) single nucleotide variant Malignant melanoma [RCV000070063] Chr12:53269243 [GRCh38]
Chr12:53663027 [GRCh37]
Chr12:51949294 [NCBI36]
Chr12:12q13.13		 not provided
NM_012291.4(ESPL1):c.4809C>T (p.Phe1603=) single nucleotide variant Malignant melanoma [RCV000062543] Chr12:53289190 [GRCh38]
Chr12:53682974 [GRCh37]
Chr12:51969241 [NCBI36]
Chr12:12q13.13		 not provided
GRCh38/hg38 12q13.13(chr12:52851850-53558824)x3 copy number gain See cases [RCV000138030] Chr12:52851850..53558824 [GRCh38]
Chr12:53245634..53952608 [GRCh37]
Chr12:51531901..52238875 [NCBI36]
Chr12:12q13.13		 likely pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NM_012291.5(ESPL1):c.796C>T (p.Arg266Cys) single nucleotide variant not specified [RCV004333439] Chr12:53269738 [GRCh38]
Chr12:53663522 [GRCh37]
Chr12:12q13.13		 likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
NM_012291.5(ESPL1):c.802C>A (p.His268Asn) single nucleotide variant not specified [RCV004282190] Chr12:53269744 [GRCh38]
Chr12:53663528 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3769C>G (p.Arg1257Gly) single nucleotide variant not specified [RCV004318110] Chr12:53286505 [GRCh38]
Chr12:53680289 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5338C>T (p.Arg1780Trp) single nucleotide variant not specified [RCV004319927] Chr12:53290443 [GRCh38]
Chr12:53684227 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5965C>A (p.Gln1989Lys) single nucleotide variant not specified [RCV004284203] Chr12:53292626 [GRCh38]
Chr12:53686410 [GRCh37]
Chr12:12q13.13		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_012291.5(ESPL1):c.5345C>T (p.Ala1782Val) single nucleotide variant not specified [RCV004303551] Chr12:53290450 [GRCh38]
Chr12:53684234 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.6162-10C>T single nucleotide variant not provided [RCV000959088] Chr12:53293263 [GRCh38]
Chr12:53687047 [GRCh37]
Chr12:12q13.13		 benign
NM_012291.5(ESPL1):c.4463T>A (p.Ile1488Asn) single nucleotide variant not provided [RCV000948894] Chr12:53288258 [GRCh38]
Chr12:53682042 [GRCh37]
Chr12:12q13.13		 benign
NM_012291.5(ESPL1):c.2907G>A (p.Ser969=) single nucleotide variant not provided [RCV000962258] Chr12:53283244 [GRCh38]
Chr12:53677028 [GRCh37]
Chr12:12q13.13		 benign
NM_012291.5(ESPL1):c.3122G>T (p.Arg1041Leu) single nucleotide variant not specified [RCV004284641] Chr12:53284102 [GRCh38]
Chr12:53677886 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.710G>A (p.Gly237Glu) single nucleotide variant not specified [RCV004306187] Chr12:53269652 [GRCh38]
Chr12:53663436 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.4010G>T (p.Gly1337Val) single nucleotide variant ESPL1-related disorder [RCV003910475]|not provided [RCV000885953] Chr12:53286746 [GRCh38]
Chr12:53680530 [GRCh37]
Chr12:12q13.13		 benign|likely benign
NM_012291.5(ESPL1):c.4384G>A (p.Ala1462Thr) single nucleotide variant ESPL1-related disorder [RCV003905865]|not provided [RCV000963965] Chr12:53288179 [GRCh38]
Chr12:53681963 [GRCh37]
Chr12:12q13.13		 benign
NM_012291.5(ESPL1):c.2753A>G (p.Asn918Ser) single nucleotide variant not provided [RCV000959322] Chr12:53282397 [GRCh38]
Chr12:53676181 [GRCh37]
Chr12:12q13.13		 benign
NM_012291.5(ESPL1):c.1787G>A (p.Arg596Gln) single nucleotide variant ESPL1-related disorder [RCV003958270]|not provided [RCV000908203] Chr12:53276706 [GRCh38]
Chr12:53670490 [GRCh37]
Chr12:12q13.13		 benign
NM_012291.5(ESPL1):c.4435A>G (p.Arg1479Gly) single nucleotide variant ESPL1-related disorder [RCV003958271]|not provided [RCV000908204] Chr12:53288230 [GRCh38]
Chr12:53682014 [GRCh37]
Chr12:12q13.13		 benign
NM_012291.5(ESPL1):c.6218C>T (p.Thr2073Met) single nucleotide variant not provided [RCV000889716] Chr12:53293329 [GRCh38]
Chr12:53687113 [GRCh37]
Chr12:12q13.13		 likely benign
GRCh37/hg19 12q13.13(chr12:53614278-53971802)x1 copy number loss not provided [RCV001259613] Chr12:53614278..53971802 [GRCh37]
Chr12:12q13.13		 likely pathogenic
GRCh37/hg19 12q13.13(chr12:53372321-53864490)x1 copy number loss not provided [RCV001259614] Chr12:53372321..53864490 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3345G>C (p.Glu1115Asp) single nucleotide variant not specified [RCV004325325] Chr12:53286081 [GRCh38]
Chr12:53679865 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.6310T>A (p.Tyr2104Asn) single nucleotide variant not specified [RCV004294654] Chr12:53293421 [GRCh38]
Chr12:53687205 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.228G>C (p.Glu76Asp) single nucleotide variant not specified [RCV004333715] Chr12:53269170 [GRCh38]
Chr12:53662954 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3535C>G (p.Gln1179Glu) single nucleotide variant not specified [RCV004314071] Chr12:53286271 [GRCh38]
Chr12:53680055 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1425G>C (p.Glu475Asp) single nucleotide variant not specified [RCV004294805] Chr12:53272776 [GRCh38]
Chr12:53666560 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4409G>A (p.Arg1470His) single nucleotide variant not specified [RCV004089088] Chr12:53288204 [GRCh38]
Chr12:53681988 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4408C>T (p.Arg1470Cys) single nucleotide variant not specified [RCV004228884] Chr12:53288203 [GRCh38]
Chr12:53681987 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1724G>T (p.Gly575Val) single nucleotide variant not specified [RCV004153462] Chr12:53276643 [GRCh38]
Chr12:53670427 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1070T>C (p.Leu357Pro) single nucleotide variant not specified [RCV004170192] Chr12:53270012 [GRCh38]
Chr12:53663796 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.1846G>A (p.Glu616Lys) single nucleotide variant not specified [RCV004103158] Chr12:53276765 [GRCh38]
Chr12:53670549 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.6317T>C (p.Ile2106Thr) single nucleotide variant not specified [RCV004231147] Chr12:53293428 [GRCh38]
Chr12:53687212 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5015G>A (p.Arg1672His) single nucleotide variant not specified [RCV004158694] Chr12:53289496 [GRCh38]
Chr12:53683280 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5161G>A (p.Val1721Met) single nucleotide variant not specified [RCV004181528] Chr12:53290132 [GRCh38]
Chr12:53683916 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5252G>A (p.Arg1751His) single nucleotide variant not specified [RCV004156280] Chr12:53290357 [GRCh38]
Chr12:53684141 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1327G>T (p.Gly443Cys) single nucleotide variant not specified [RCV004227217] Chr12:53270756 [GRCh38]
Chr12:53664540 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4307C>T (p.Thr1436Met) single nucleotide variant not specified [RCV004083481] Chr12:53288102 [GRCh38]
Chr12:53681886 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4577C>T (p.Ala1526Val) single nucleotide variant not specified [RCV004120849] Chr12:53288568 [GRCh38]
Chr12:53682352 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5306G>T (p.Ser1769Ile) single nucleotide variant not specified [RCV004134494] Chr12:53290411 [GRCh38]
Chr12:53684195 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.985C>G (p.Pro329Ala) single nucleotide variant not specified [RCV004159508] Chr12:53269927 [GRCh38]
Chr12:53663711 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.2591G>A (p.Arg864Gln) single nucleotide variant not specified [RCV004128935] Chr12:53281598 [GRCh38]
Chr12:53675382 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1748T>A (p.Leu583His) single nucleotide variant not specified [RCV004138486] Chr12:53276667 [GRCh38]
Chr12:53670451 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5590A>G (p.Thr1864Ala) single nucleotide variant not specified [RCV004235176] Chr12:53291759 [GRCh38]
Chr12:53685543 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.725T>G (p.Leu242Arg) single nucleotide variant not specified [RCV004211664] Chr12:53269667 [GRCh38]
Chr12:53663451 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.238C>G (p.Leu80Val) single nucleotide variant not specified [RCV004241383] Chr12:53269180 [GRCh38]
Chr12:53662964 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1423G>C (p.Glu475Gln) single nucleotide variant not specified [RCV004081016] Chr12:53272774 [GRCh38]
Chr12:53666558 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.434G>A (p.Arg145Gln) single nucleotide variant not specified [RCV004081156] Chr12:53269376 [GRCh38]
Chr12:53663160 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.670C>T (p.Leu224Phe) single nucleotide variant not specified [RCV004147898] Chr12:53269612 [GRCh38]
Chr12:53663396 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3532G>C (p.Ala1178Pro) single nucleotide variant not specified [RCV004078895] Chr12:53286268 [GRCh38]
Chr12:53680052 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1904T>C (p.Val635Ala) single nucleotide variant not specified [RCV004146330] Chr12:53276823 [GRCh38]
Chr12:53670607 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.2108C>G (p.Ala703Gly) single nucleotide variant not specified [RCV004147171] Chr12:53277492 [GRCh38]
Chr12:53671276 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5509A>C (p.Thr1837Pro) single nucleotide variant not specified [RCV004156867] Chr12:53290985 [GRCh38]
Chr12:53684769 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5662A>G (p.Asn1888Asp) single nucleotide variant not specified [RCV004083734] Chr12:53291831 [GRCh38]
Chr12:53685615 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1550T>A (p.Leu517Gln) single nucleotide variant not specified [RCV004150438] Chr12:53274860 [GRCh38]
Chr12:53668644 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4055G>A (p.Arg1352Gln) single nucleotide variant not specified [RCV004086898] Chr12:53286791 [GRCh38]
Chr12:53680575 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.2170C>G (p.Gln724Glu) single nucleotide variant not specified [RCV004330476] Chr12:53277554 [GRCh38]
Chr12:53671338 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3390A>C (p.Lys1130Asn) single nucleotide variant not specified [RCV004275278] Chr12:53286126 [GRCh38]
Chr12:53679910 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1049G>A (p.Gly350Asp) single nucleotide variant not specified [RCV004277926] Chr12:53269991 [GRCh38]
Chr12:53663775 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1013A>C (p.Glu338Ala) single nucleotide variant not specified [RCV004255342] Chr12:53269955 [GRCh38]
Chr12:53663739 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.734C>A (p.Pro245His) single nucleotide variant not specified [RCV004254414] Chr12:53269676 [GRCh38]
Chr12:53663460 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4147G>T (p.Val1383Leu) single nucleotide variant not specified [RCV004251514] Chr12:53286883 [GRCh38]
Chr12:53680667 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4009G>C (p.Gly1337Arg) single nucleotide variant not specified [RCV004248634] Chr12:53286745 [GRCh38]
Chr12:53680529 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.401A>G (p.Glu134Gly) single nucleotide variant not specified [RCV004269127] Chr12:53269343 [GRCh38]
Chr12:53663127 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3178T>C (p.Ser1060Pro) single nucleotide variant not specified [RCV004249110] Chr12:53284158 [GRCh38]
Chr12:53677942 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4109C>G (p.Pro1370Arg) single nucleotide variant not specified [RCV004361686] Chr12:53286845 [GRCh38]
Chr12:53680629 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3774A>G (p.Ile1258Met) single nucleotide variant not specified [RCV004356782] Chr12:53286510 [GRCh38]
Chr12:53680294 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5197G>T (p.Asp1733Tyr) single nucleotide variant not specified [RCV004357096] Chr12:53290168 [GRCh38]
Chr12:53683952 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3470C>G (p.Thr1157Arg) single nucleotide variant not specified [RCV004349975] Chr12:53286206 [GRCh38]
Chr12:53679990 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1851G>C (p.Glu617Asp) single nucleotide variant not specified [RCV004357998] Chr12:53276770 [GRCh38]
Chr12:53670554 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.385G>A (p.Val129Met) single nucleotide variant not specified [RCV004359115] Chr12:53269327 [GRCh38]
Chr12:53663111 [GRCh37]
Chr12:12q13.13		 uncertain significance
GRCh37/hg19 12q13.13(chr12:53583828-53922629)x3 copy number gain not provided [RCV003484869] Chr12:53583828..53922629 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3739C>T (p.Leu1247=) single nucleotide variant not provided [RCV003390250] Chr12:53286475 [GRCh38]
Chr12:53680259 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.3716C>A (p.Ser1239Ter) single nucleotide variant ESPL1-related disorder [RCV003416706] Chr12:53286452 [GRCh38]
Chr12:53680236 [GRCh37]
Chr12:12q13.13		 uncertain significance
GRCh37/hg19 12q13.13(chr12:53502510-54256094)x3 copy number gain not specified [RCV003986989] Chr12:53502510..54256094 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.347C>T (p.Ala116Val) single nucleotide variant ESPL1-related disorder [RCV003979116] Chr12:53269289 [GRCh38]
Chr12:53663073 [GRCh37]
Chr12:12q13.13		 benign
NM_012291.5(ESPL1):c.5169C>T (p.Asn1723=) single nucleotide variant ESPL1-related disorder [RCV003964645] Chr12:53290140 [GRCh38]
Chr12:53683924 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.3894A>G (p.Leu1298=) single nucleotide variant ESPL1-related disorder [RCV003963833] Chr12:53286630 [GRCh38]
Chr12:53680414 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.4528G>A (p.Gly1510Arg) single nucleotide variant ESPL1-related disorder [RCV003941844] Chr12:53288323 [GRCh38]
Chr12:53682107 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.4053C>T (p.Asp1351=) single nucleotide variant ESPL1-related disorder [RCV003937102] Chr12:53286789 [GRCh38]
Chr12:53680573 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.3450C>T (p.Leu1150=) single nucleotide variant ESPL1-related disorder [RCV003961514] Chr12:53286186 [GRCh38]
Chr12:53679970 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.5439C>T (p.Pro1813=) single nucleotide variant ESPL1-related disorder [RCV003909245] Chr12:53290915 [GRCh38]
Chr12:53684699 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.6161+7C>T single nucleotide variant ESPL1-related disorder [RCV003961813] Chr12:53292977 [GRCh38]
Chr12:53686761 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.1299C>T (p.Thr433=) single nucleotide variant ESPL1-related disorder [RCV003927168] Chr12:53270728 [GRCh38]
Chr12:53664512 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.27T>C (p.Phe9=) single nucleotide variant ESPL1-related disorder [RCV003909519] Chr12:53268793 [GRCh38]
Chr12:53662577 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.4314C>T (p.Ala1438=) single nucleotide variant ESPL1-related disorder [RCV003956923] Chr12:53288109 [GRCh38]
Chr12:53681893 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.117C>T (p.Ser39=) single nucleotide variant ESPL1-related disorder [RCV003977115] Chr12:53269059 [GRCh38]
Chr12:53662843 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.3953G>A (p.Arg1318Gln) single nucleotide variant ESPL1-related disorder [RCV003921941] Chr12:53286689 [GRCh38]
Chr12:53680473 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.3264C>T (p.Val1088=) single nucleotide variant ESPL1-related disorder [RCV003951540] Chr12:53286000 [GRCh38]
Chr12:53679784 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.3232C>A (p.His1078Asn) single nucleotide variant ESPL1-related disorder [RCV003909400] Chr12:53285968 [GRCh38]
Chr12:53679752 [GRCh37]
Chr12:12q13.13		 benign
NM_012291.5(ESPL1):c.3631C>A (p.Pro1211Thr) single nucleotide variant not specified [RCV004380881] Chr12:53286367 [GRCh38]
Chr12:53680151 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5392G>A (p.Val1798Met) single nucleotide variant not specified [RCV004380893] Chr12:53290868 [GRCh38]
Chr12:53684652 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.995C>T (p.Pro332Leu) single nucleotide variant not specified [RCV004380897] Chr12:53269937 [GRCh38]
Chr12:53663721 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4424G>A (p.Ser1475Asn) single nucleotide variant not specified [RCV004380885] Chr12:53288219 [GRCh38]
Chr12:53682003 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4676G>A (p.Arg1559Gln) single nucleotide variant not specified [RCV004380886] Chr12:53288667 [GRCh38]
Chr12:53682451 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.4876A>G (p.Ile1626Val) single nucleotide variant not specified [RCV004380889] Chr12:53289257 [GRCh38]
Chr12:53683041 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4886G>A (p.Arg1629His) single nucleotide variant not specified [RCV004380890] Chr12:53289267 [GRCh38]
Chr12:53683051 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5026C>T (p.Leu1676Phe) single nucleotide variant not specified [RCV004380891] Chr12:53289507 [GRCh38]
Chr12:53683291 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.6331A>G (p.Ile2111Val) single nucleotide variant not specified [RCV004380895] Chr12:53293442 [GRCh38]
Chr12:53687226 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.175C>G (p.Gln59Glu) single nucleotide variant not specified [RCV004380873] Chr12:53269117 [GRCh38]
Chr12:53662901 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3328G>T (p.Ala1110Ser) single nucleotide variant not specified [RCV004380879] Chr12:53286064 [GRCh38]
Chr12:53679848 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5578G>A (p.Gly1860Arg) single nucleotide variant not specified [RCV004380894] Chr12:53291747 [GRCh38]
Chr12:53685531 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.733C>T (p.Pro245Ser) single nucleotide variant not specified [RCV004380896] Chr12:53269675 [GRCh38]
Chr12:53663459 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1291A>C (p.Lys431Gln) single nucleotide variant not specified [RCV004380872] Chr12:53270720 [GRCh38]
Chr12:53664504 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1814A>G (p.Asn605Ser) single nucleotide variant not specified [RCV004380874] Chr12:53276733 [GRCh38]
Chr12:53670517 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.197C>T (p.Ala66Val) single nucleotide variant not specified [RCV004380875] Chr12:53269139 [GRCh38]
Chr12:53662923 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4398T>G (p.Cys1466Trp) single nucleotide variant not specified [RCV004380884] Chr12:53288193 [GRCh38]
Chr12:53681977 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3121C>G (p.Arg1041Gly) single nucleotide variant not specified [RCV004380876] Chr12:53284101 [GRCh38]
Chr12:53677885 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3289G>A (p.Glu1097Lys) single nucleotide variant not specified [RCV004380877] Chr12:53286025 [GRCh38]
Chr12:53679809 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3316C>G (p.Leu1106Val) single nucleotide variant not specified [RCV004380878] Chr12:53286052 [GRCh38]
Chr12:53679836 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4747G>A (p.Val1583Ile) single nucleotide variant not specified [RCV004380888] Chr12:53289128 [GRCh38]
Chr12:53682912 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.5365G>A (p.Val1789Ile) single nucleotide variant not specified [RCV004380892] Chr12:53290841 [GRCh38]
Chr12:53684625 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3559G>A (p.Val1187Met) single nucleotide variant not specified [RCV004380880] Chr12:53286295 [GRCh38]
Chr12:53680079 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4054C>T (p.Arg1352Trp) single nucleotide variant not specified [RCV004380882] Chr12:53286790 [GRCh38]
Chr12:53680574 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5444C>T (p.Pro1815Leu) single nucleotide variant not specified [RCV004618091] Chr12:53290920 [GRCh38]
Chr12:53684704 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1676C>T (p.Ala559Val) single nucleotide variant not specified [RCV004618082] Chr12:53274986 [GRCh38]
Chr12:53668770 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4045C>T (p.Pro1349Ser) single nucleotide variant not specified [RCV004618087] Chr12:53286781 [GRCh38]
Chr12:53680565 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1574A>G (p.Lys525Arg) single nucleotide variant not specified [RCV004618089] Chr12:53274884 [GRCh38]
Chr12:53668668 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.6236G>C (p.Gly2079Ala) single nucleotide variant not specified [RCV004618085] Chr12:53293347 [GRCh38]
Chr12:53687131 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3454G>A (p.Ala1152Thr) single nucleotide variant not specified [RCV004618083] Chr12:53286190 [GRCh38]
Chr12:53679974 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4656T>A (p.Ser1552Arg) single nucleotide variant not specified [RCV004618084] Chr12:53288647 [GRCh38]
Chr12:53682431 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.3925A>G (p.Lys1309Glu) single nucleotide variant not specified [RCV004618086] Chr12:53286661 [GRCh38]
Chr12:53680445 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.2867G>A (p.Ser956Asn) single nucleotide variant not specified [RCV004618090] Chr12:53283204 [GRCh38]
Chr12:53676988 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4702G>A (p.Ala1568Thr) single nucleotide variant not specified [RCV004618088] Chr12:53288693 [GRCh38]
Chr12:53682477 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5765G>A (p.Arg1922His) single nucleotide variant not specified [RCV004915271] Chr12:53292057 [GRCh38]
Chr12:53685841 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5321G>A (p.Arg1774Gln) single nucleotide variant not specified [RCV004915278] Chr12:53290426 [GRCh38]
Chr12:53684210 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.2207A>G (p.Asn736Ser) single nucleotide variant not specified [RCV004915275] Chr12:53277591 [GRCh38]
Chr12:53671375 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1064A>G (p.Tyr355Cys) single nucleotide variant not specified [RCV004915263] Chr12:53270006 [GRCh38]
Chr12:53663790 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4169G>A (p.Arg1390His) single nucleotide variant not specified [RCV004915265] Chr12:53286905 [GRCh38]
Chr12:53680689 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.2603A>G (p.Tyr868Cys) single nucleotide variant not specified [RCV004915266] Chr12:53281610 [GRCh38]
Chr12:53675394 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.3421T>G (p.Ser1141Ala) single nucleotide variant not specified [RCV004915270] Chr12:53286157 [GRCh38]
Chr12:53679941 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.3310C>T (p.Pro1104Ser) single nucleotide variant not specified [RCV004915277] Chr12:53286046 [GRCh38]
Chr12:53679830 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.6200G>A (p.Arg2067His) single nucleotide variant not specified [RCV004915280] Chr12:53293311 [GRCh38]
Chr12:53687095 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5542G>A (p.Ala1848Thr) single nucleotide variant not specified [RCV004915281] Chr12:53291711 [GRCh38]
Chr12:53685495 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.1340A>G (p.Gln447Arg) single nucleotide variant not specified [RCV004915267] Chr12:53270769 [GRCh38]
Chr12:53664553 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.497C>T (p.Ala166Val) single nucleotide variant not specified [RCV004915269] Chr12:53269439 [GRCh38]
Chr12:53663223 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.5006C>A (p.Pro1669His) single nucleotide variant not specified [RCV004915282] Chr12:53289487 [GRCh38]
Chr12:53683271 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.908T>C (p.Val303Ala) single nucleotide variant not specified [RCV004915264] Chr12:53269850 [GRCh38]
Chr12:53663634 [GRCh37]
Chr12:12q13.13		 likely benign
NM_012291.5(ESPL1):c.1745C>G (p.Ala582Gly) single nucleotide variant not specified [RCV004915272] Chr12:53276664 [GRCh38]
Chr12:53670448 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.1577T>C (p.Met526Thr) single nucleotide variant not specified [RCV004915273] Chr12:53274887 [GRCh38]
Chr12:53668671 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4066G>A (p.Ala1356Thr) single nucleotide variant not specified [RCV004915274] Chr12:53286802 [GRCh38]
Chr12:53680586 [GRCh37]
Chr12:12q13.13		 uncertain significance
NM_012291.5(ESPL1):c.4411C>A (p.Pro1471Thr) single nucleotide variant not specified [RCV004915276] Chr12:53288206 [GRCh38]
Chr12:53681990 [GRCh37]
Chr12:12q13.13		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:5427
Count of miRNA genes:1300
Interacting mature miRNAs:1714
Transcripts:ENST00000257934, ENST00000535123, ENST00000549154, ENST00000550026, ENST00000552462, ENST00000552600, ENST00000552671, ENST00000553016, ENST00000553219
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597081126GWAS1177200_Hbody mass index QTL GWAS1177200 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)125328717153287172Human
597140068GWAS1236142_HCOVID-19 QTL GWAS1236142 (human)2e-08COVID-19125327036453270365Human
597019661GWAS1115735_Hfemoral neck bone mineral density QTL GWAS1115735 (human)0.000002bone mineralization trait (VT:0002896)bone mineral density (CMO:0001226)125327776553277766Human
597306993GWAS1403067_Hspine bone mineral density QTL GWAS1403067 (human)2e-12spine bone mineral densitybone mineral density (CMO:0001226)125327776553277766Human
597019755GWAS1115829_Hspine bone mineral density QTL GWAS1115829 (human)3e-13spine bone mineral densitybone mineral density (CMO:0001226)125327776553277766Human
597022779GWAS1118853_Hcolorectal health QTL GWAS1118853 (human)0.000005colorectal integrity trait (VT:0010901)125329360353293604Human

Markers in Region
G64239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,661,369 - 53,661,564UniSTSGRCh37
Build 361251,947,636 - 51,947,831RGDNCBI36
Celera1253,310,473 - 53,310,668RGD
Cytogenetic Map12qUniSTS
HuRef1250,703,084 - 50,703,279UniSTS
G64240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,683,001 - 53,683,318UniSTSGRCh37
Build 361251,969,268 - 51,969,585RGDNCBI36
Celera1253,332,287 - 53,332,604RGD
Cytogenetic Map12qUniSTS
HuRef1250,724,368 - 50,724,685UniSTS
G64244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,664,729 - 53,664,939UniSTSGRCh37
Build 361251,950,996 - 51,951,206RGDNCBI36
Celera1253,313,803 - 53,314,014RGD
Cytogenetic Map12qUniSTS
HuRef1250,706,414 - 50,706,625UniSTS
SHGC-105759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,682,840 - 53,683,164UniSTSGRCh37
Build 361251,969,107 - 51,969,431RGDNCBI36
Celera1253,332,126 - 53,332,450RGD
Cytogenetic Map12qUniSTS
HuRef1250,724,207 - 50,724,531UniSTS
TNG Radiation Hybrid Map1225376.0UniSTS
RH45441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371253,679,743 - 53,679,961UniSTSGRCh37
Build 361251,966,010 - 51,966,228RGDNCBI36
Celera1253,329,035 - 53,329,253RGD
Cytogenetic Map12qUniSTS
HuRef1250,721,116 - 50,721,334UniSTS
GeneMap99-GB4 RH Map12227.66UniSTS
D1S3694  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map7q36.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2434 2778 2240 4911 1722 2343 4 622 1947 464 2268 7261 6441 52 3677 847 1734 1611 173

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_012291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011539025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047429915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054373893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC021072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI458447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW009863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY455930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG328178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP244662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D79987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000257934   ⟹   ENSP00000257934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1253,268,299 - 53,293,638 (+)Ensembl
Ensembl Acc Id: ENST00000535123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1253,279,705 - 53,288,324 (+)Ensembl
Ensembl Acc Id: ENST00000549154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1253,287,256 - 53,293,635 (+)Ensembl
Ensembl Acc Id: ENST00000550026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1253,274,081 - 53,274,952 (+)Ensembl
Ensembl Acc Id: ENST00000552600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1253,287,881 - 53,289,460 (+)Ensembl
Ensembl Acc Id: ENST00000552671   ⟹   ENSP00000447054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1253,268,333 - 53,293,638 (+)Ensembl
Ensembl Acc Id: ENST00000553016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1253,282,250 - 53,289,295 (+)Ensembl
Ensembl Acc Id: ENST00000553219   ⟹   ENSP00000456450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1253,268,335 - 53,269,528 (+)Ensembl
RefSeq Acc Id: NM_012291   ⟹   NP_036423
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381253,268,299 - 53,293,638 (+)NCBI
GRCh371253,662,083 - 53,687,427 (+)ENTREZGENE
Build 361251,948,350 - 51,973,694 (+)NCBI Archive
HuRef1250,703,798 - 50,728,935 (+)ENTREZGENE
CHM1_11253,628,380 - 53,653,869 (+)NCBI
T2T-CHM13v2.01253,233,903 - 53,259,351 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719705   ⟹   XP_006719768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381253,268,299 - 53,293,638 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011539024   ⟹   XP_011537326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381253,268,405 - 53,293,638 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017020253   ⟹   XP_016875742
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381253,268,837 - 53,293,638 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047429915   ⟹   XP_047285871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381253,268,299 - 53,288,341 (+)NCBI
RefSeq Acc Id: XM_054373890   ⟹   XP_054229865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01253,233,854 - 53,259,351 (+)NCBI
RefSeq Acc Id: XM_054373891   ⟹   XP_054229866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01253,234,009 - 53,259,351 (+)NCBI
RefSeq Acc Id: XM_054373892   ⟹   XP_054229867
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01253,234,441 - 53,259,351 (+)NCBI
RefSeq Acc Id: XM_054373893   ⟹   XP_054229868
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01253,233,903 - 53,253,919 (+)NCBI
RefSeq Acc Id: NP_036423   ⟸   NM_012291
- UniProtKB: Q14674 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006719768   ⟸   XM_006719705
- Peptide Label: isoform X1
- UniProtKB: Q14674 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011537326   ⟸   XM_011539024
- Peptide Label: isoform X1
- UniProtKB: Q14674 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016875742   ⟸   XM_017020253
- Peptide Label: isoform X2
- UniProtKB: Q14674 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000257934   ⟸   ENST00000257934
Ensembl Acc Id: ENSP00000447054   ⟸   ENST00000552671
Ensembl Acc Id: ENSP00000456450   ⟸   ENST00000553219
RefSeq Acc Id: XP_047285871   ⟸   XM_047429915
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054229865   ⟸   XM_054373890
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229868   ⟸   XM_054373893
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054229866   ⟸   XM_054373891
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054229867   ⟸   XM_054373892
- Peptide Label: isoform X2
Protein Domains
Peptidase C50

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14674-F1-model_v2 AlphaFold Q14674 1-2120 view protein structure

Promoters
RGD ID:6790028
Promoter ID:HG_KWN:15751
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_012291,   UC001SCJ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361251,948,116 - 51,948,616 (+)MPROMDB
RGD ID:6810270
Promoter ID:HG_ACW:17111
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:ESPL1.DAPR07,   ESPL1.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361251,967,711 - 51,968,211 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16856 AgrOrtholog
COSMIC ESPL1 COSMIC
Ensembl Genes ENSG00000135476 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000257934 ENTREZGENE
  ENST00000257934.9 UniProtKB/Swiss-Prot
GTEx ENSG00000135476 GTEx
HGNC ID HGNC:16856 ENTREZGENE
Human Proteome Map ESPL1 Human Proteome Map
InterPro Peptidase_C50 UniProtKB/Swiss-Prot
  SEPARIN_core_dom UniProtKB/Swiss-Prot
KEGG Report hsa:9700 UniProtKB/Swiss-Prot
NCBI Gene 9700 ENTREZGENE
OMIM 604143 OMIM
PANTHER PTHR12792 UniProtKB/Swiss-Prot
  SEPARIN UniProtKB/Swiss-Prot
Pfam Peptidase_C50 UniProtKB/Swiss-Prot
PharmGKB PA27884 PharmGKB
PROSITE SEPARIN UniProtKB/Swiss-Prot
UniProt ESPL1_HUMAN UniProtKB/Swiss-Prot
  H3BM31_HUMAN UniProtKB/TrEMBL
  H3BRX7_HUMAN UniProtKB/TrEMBL
  Q14674 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-07 ESPL1  extra spindle pole bodies like 1, separase    extra spindle pole bodies 1, separase  Symbol and/or name change 5135510 APPROVED
2015-06-30 ESPL1  extra spindle pole bodies 1, separase    extra spindle pole bodies homolog 1 (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED