USP8 (ubiquitin specific peptidase 8) - Rat Genome Database

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Gene: USP8 (ubiquitin specific peptidase 8) Homo sapiens
Analyze
Symbol: USP8
Name: ubiquitin specific peptidase 8
RGD ID: 1312730
HGNC Page HGNC:12631
Description: Enables K48-linked deubiquitinase activity; K63-linked deubiquitinase activity; and cysteine-type deubiquitinase activity. Involved in several processes, including positive regulation of canonical Wnt signaling pathway; protein deubiquitination; and regulation of protein metabolic process. Acts upstream of or within mitotic cytokinesis and protein deubiquitination. Located in early endosome and midbody. Is active in cytosol. Implicated in ACTH-secreting pituitary adenoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: deubiquitinating enzyme 8; FLJ34456; hUBPy; HumORF8; KIAA0055; MGC129718; PITA4; SPG59; ubiquitin carboxyl-terminal hydrolase 8; ubiquitin isopeptidase Y; ubiquitin specific protease 8; ubiquitin thioesterase 8; ubiquitin thiolesterase 8; ubiquitin-specific-processing protease 8; UBPY
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: USP8P1   USP8P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381550,424,405 - 50,514,421 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1550,424,380 - 50,514,421 (+)EnsemblGRCh38hg38GRCh38
GRCh371550,716,602 - 50,806,618 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361548,503,871 - 48,579,265 (+)NCBINCBI36Build 36hg18NCBI36
Build 341548,503,870 - 48,579,263NCBI
Celera1527,609,144 - 27,685,855 (+)NCBICelera
Cytogenetic Map15q21.2NCBI
HuRef1527,547,372 - 27,623,683 (+)NCBIHuRef
CHM1_11550,834,671 - 50,911,286 (+)NCBICHM1_1
T2T-CHM13v2.01548,232,513 - 48,322,500 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
acrosomal membrane  (IEA)
cytoplasm  (IDA,IEA)
cytosol  (IBA,IDA,IEA,TAS)
early endosome  (IDA,IEA)
endosome  (IEA)
endosome membrane  (IEA)
glutamatergic synapse  (IEA)
membrane  (IEA)
midbody  (IBA,IDA,IEA)
nucleus  (IEA)
plasma membrane  (IEA)
postsynaptic density  (IBA,IEA)

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

Human Phenotype
Abdominal obesity  (IAGP)
Abnormal cerebellum morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal fear-induced behavior  (IAGP)
Abnormal libido  (IAGP)
Abnormality of the cardiovascular system  (IAGP)
Abnormality of the respiratory system  (IAGP)
Acne  (IAGP)
Adrenal hyperplasia  (IAGP)
Alkalosis  (IAGP)
Amenorrhea  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Avascular necrosis  (IAGP)
Biconcave vertebral bodies  (IAGP)
Bruising susceptibility  (IAGP)
Capillary fragility  (IAGP)
Clonus  (IAGP)
Decreased eosinophil count  (IAGP)
Dementia  (IAGP)
Depression  (IAGP)
Diabetes mellitus  (IAGP)
Dorsocervical fat pad  (IAGP)
Ecchymosis  (IAGP)
Edema  (IAGP)
Emotional lability  (IAGP)
Facial erythema  (IAGP)
Fatiguable weakness of proximal limb muscles  (IAGP)
Flushing  (IAGP)
Glucose intolerance  (IAGP)
Headache  (IAGP)
Hirsutism  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypertension  (IAGP)
Hypokalemia  (IAGP)
Immunodeficiency  (IAGP)
Impaired glucose tolerance  (IAGP)
Increased body weight  (IAGP)
Increased circulating ACTH level  (IAGP)
Increased circulating cortisol level  (IAGP)
Increased urinary cortisol level  (IAGP)
Intellectual disability  (IAGP)
Intra-oral hyperpigmentation  (IAGP)
Kyphosis  (IAGP)
Large sella turcica  (IAGP)
Leukocytosis  (IAGP)
Limb hypertonia  (IAGP)
Livedo reticularis  (IAGP)
Lower limb hyperreflexia  (IAGP)
Lower limb spasticity  (IAGP)
Lymphopenia  (IAGP)
Memory impairment  (IAGP)
Moon facies  (IAGP)
Muscle weakness  (IAGP)
Myocardial infarction  (IAGP)
Nephrolithiasis  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Oligomenorrhea  (IAGP)
Optic nerve compression  (IAGP)
Osteoporosis  (IAGP)
Panic attack  (IAGP)
Paradoxical increased cortisol secretion on dexamethasone suppression test  (IAGP)
Paranoia  (IAGP)
Pedal edema  (IAGP)
Pituitary adenoma  (IAGP)
Pituitary corticotropic cell adenoma  (IAGP)
Plethora  (IAGP)
Poor wound healing  (IAGP)
Proximal amyotrophy  (IAGP)
Psychosis  (IAGP)
Psychotic episodes  (IAGP)
Psychotic mentation  (IAGP)
Purpura  (IAGP)
Recurrent cutaneous fungal infections  (IAGP)
Secondary amenorrhea  (IAGP)
Skeletal muscle atrophy  (IAGP)
Skin ulcer  (IAGP)
Sparse scalp hair  (IAGP)
Spastic gait  (IAGP)
Spastic paraplegia  (IAGP)
Striae distensae  (IAGP)
Stroke  (IAGP)
Suicidal ideation  (IAGP)
Talipes equinovarus  (IAGP)
Thin skin  (IAGP)
Truncal obesity  (IAGP)
Vertebral compression fracture  (IAGP)
Visual field defect  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The three 'P's of mitophagy: PARKIN, PINK1, and post-translational modifications. Durcan TM and Fon EA, Genes Dev. 2015 May 15;29(10):989-99. doi: 10.1101/gad.262758.115.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7584044   PMID:8889548   PMID:9582025   PMID:9628861   PMID:9827704   PMID:10982817   PMID:11500497   PMID:12176364   PMID:12477932   PMID:12773374   PMID:12838346   PMID:13129930  
PMID:14661020   PMID:14702039   PMID:15161933   PMID:15314180   PMID:15324660   PMID:15342353   PMID:15489334   PMID:15778465   PMID:16120644   PMID:16341674   PMID:16344560   PMID:16520378  
PMID:16771824   PMID:17035239   PMID:17121848   PMID:17210635   PMID:17353931   PMID:17711858   PMID:17720156   PMID:17979178   PMID:18029348   PMID:18329369   PMID:18388320   PMID:18728397  
PMID:19302785   PMID:19427866   PMID:19523899   PMID:19608861   PMID:19615732   PMID:19684015   PMID:20301682   PMID:20495530   PMID:20736164   PMID:20876529   PMID:21448666   PMID:21828287  
PMID:21873635   PMID:22118674   PMID:22195557   PMID:22253573   PMID:22626734   PMID:22779921   PMID:22841719   PMID:22863883   PMID:22939629   PMID:23153581   PMID:23287719   PMID:23297398  
PMID:23333852   PMID:23472066   PMID:23477725   PMID:23748694   PMID:23750007   PMID:24255178   PMID:24270891   PMID:24344018   PMID:24378640   PMID:24482476   PMID:24825905   PMID:24828152  
PMID:24894536   PMID:25170077   PMID:25216678   PMID:25468996   PMID:25485838   PMID:25527291   PMID:25675982   PMID:25700639   PMID:25733871   PMID:25853104   PMID:25863102   PMID:25921289  
PMID:25930709   PMID:25942478   PMID:26186194   PMID:26214742   PMID:26285834   PMID:26344197   PMID:26459808   PMID:26472760   PMID:26496610   PMID:26507658   PMID:26571504   PMID:26578638  
PMID:26683461   PMID:26701869   PMID:27173435   PMID:27302062   PMID:27321185   PMID:27444016   PMID:27501351   PMID:28505279   PMID:28514442   PMID:28515276   PMID:28544031   PMID:28710116  
PMID:28850717   PMID:28973533   PMID:28982703   PMID:29180353   PMID:29472535   PMID:29473952   PMID:29507755   PMID:29560723   PMID:29568061   PMID:29576527   PMID:29604273   PMID:29626091  
PMID:29735556   PMID:29880877   PMID:30010158   PMID:30021884   PMID:30132974   PMID:30221684   PMID:30759391   PMID:30844069   PMID:30931944   PMID:31182584   PMID:31199479   PMID:31241013  
PMID:31243344   PMID:31273566   PMID:31280266   PMID:31443721   PMID:31511647   PMID:31527799   PMID:31581124   PMID:32053843   PMID:32120844   PMID:32818533   PMID:32924931   PMID:33080340  
PMID:33141564   PMID:33221858   PMID:33288548   PMID:33600786   PMID:33845483   PMID:33916271   PMID:33961781   PMID:34079090   PMID:34079125   PMID:34081623   PMID:34129829   PMID:34373451  
PMID:34630422   PMID:34664215   PMID:34672954   PMID:34709727   PMID:34750505   PMID:34839365   PMID:35256949   PMID:35271311   PMID:35361778   PMID:35384245   PMID:35451730   PMID:35559673  
PMID:35575683   PMID:35636624   PMID:35658874   PMID:35686696   PMID:35786929   PMID:35811497   PMID:35831314   PMID:35906200   PMID:35914814   PMID:35981231   PMID:35995394   PMID:36114006  
PMID:36215168   PMID:36539510   PMID:36724073   PMID:36822331   PMID:36931259   PMID:36976175   PMID:37190052   PMID:37205094   PMID:37311739   PMID:37332045   PMID:37639742   PMID:37704159  
PMID:37741774   PMID:37827155   PMID:37925320   PMID:37981592   PMID:38180476   PMID:38334954   PMID:38691659   PMID:38803224   PMID:39214302  


Genomics

Comparative Map Data
USP8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381550,424,405 - 50,514,421 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1550,424,380 - 50,514,421 (+)EnsemblGRCh38hg38GRCh38
GRCh371550,716,602 - 50,806,618 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361548,503,871 - 48,579,265 (+)NCBINCBI36Build 36hg18NCBI36
Build 341548,503,870 - 48,579,263NCBI
Celera1527,609,144 - 27,685,855 (+)NCBICelera
Cytogenetic Map15q21.2NCBI
HuRef1527,547,372 - 27,623,683 (+)NCBIHuRef
CHM1_11550,834,671 - 50,911,286 (+)NCBICHM1_1
T2T-CHM13v2.01548,232,513 - 48,322,500 (+)NCBIT2T-CHM13v2.0
Usp8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392126,549,280 - 126,601,234 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2126,549,248 - 126,601,217 (+)EnsemblGRCm39 Ensembl
GRCm382126,707,201 - 126,759,314 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2126,707,328 - 126,759,297 (+)EnsemblGRCm38mm10GRCm38
MGSCv372126,533,099 - 126,585,033 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362126,398,804 - 126,450,738 (+)NCBIMGSCv36mm8
Celera2127,946,958 - 127,999,152 (+)NCBICelera
Cytogenetic Map2F1NCBI
cM Map261.76NCBI
Usp8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83134,413,832 - 134,463,040 (+)NCBIGRCr8
mRatBN7.23113,962,136 - 114,009,683 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3113,962,164 - 114,009,666 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3117,845,850 - 117,893,311 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03126,441,377 - 126,488,837 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03124,101,758 - 124,149,218 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03119,173,818 - 119,222,499 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3119,173,818 - 119,222,484 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03125,699,400 - 125,747,055 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43114,237,065 - 114,284,543 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13114,103,490 - 114,189,451 (+)NCBI
Celera3112,804,623 - 112,852,132 (+)NCBICelera
Cytogenetic Map3q36NCBI
Usp8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554093,840,007 - 3,891,284 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554093,839,308 - 3,903,595 (-)NCBIChiLan1.0ChiLan1.0
USP8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21639,669,333 - 39,746,278 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11543,850,502 - 43,939,848 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01529,374,945 - 29,451,235 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11547,699,282 - 47,790,624 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1547,713,997 - 47,790,624 (+)Ensemblpanpan1.1panPan2
USP8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13016,341,970 - 16,408,246 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3016,342,009 - 16,408,012 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3016,268,046 - 16,334,339 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03016,485,884 - 16,552,179 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3016,485,928 - 16,552,172 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13016,408,382 - 16,474,666 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03016,525,850 - 16,592,342 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03016,632,281 - 16,698,545 (+)NCBIUU_Cfam_GSD_1.0
Usp8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864094,615,145 - 94,673,337 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647112,463,120 - 12,520,674 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647112,463,189 - 12,524,148 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
USP8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1121,306,032 - 121,413,223 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11121,306,031 - 121,376,154 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21134,747,956 - 134,815,830 (-)NCBISscrofa10.2Sscrofa10.2susScr3
USP8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12632,829,627 - 32,906,493 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2632,829,523 - 32,866,073 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048108,247,584 - 108,324,662 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Usp8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247319,613,227 - 9,679,404 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247319,615,963 - 9,678,969 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in USP8
167 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005154.5(USP8):c.1328A>G (p.Asp443Gly) single nucleotide variant Hereditary spastic paraplegia [RCV000542854]|not provided [RCV004715256] Chr15:50481590 [GRCh38]
Chr15:50481590..50481591 [GRCh38]
Chr15:50773787 [GRCh37]
Chr15:50773787..50773788 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.2658+5_2658+8dup duplication Hereditary spastic paraplegia [RCV000550889]|not provided [RCV001356127] Chr15:50494282..50494283 [GRCh38]
Chr15:50786479..50786480 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_005154.5(USP8):c.928C>A (p.Gln310Lys) single nucleotide variant not provided [RCV000087331] Chr15:50476927 [GRCh38]
Chr15:50769124 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh38/hg38 15q21.1-21.3(chr15:46042302-54195828)x1 copy number loss See cases [RCV000051619] Chr15:46042302..54195828 [GRCh38]
Chr15:46334500..54488025 [GRCh37]
Chr15:44121792..52275317 [NCBI36]
Chr15:15q21.1-21.3		 pathogenic
GRCh38/hg38 15q21.1-21.3(chr15:48695331-53923002)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051620]|See cases [RCV000051620] Chr15:48695331..53923002 [GRCh38]
Chr15:48987528..54215199 [GRCh37]
Chr15:46774820..52002491 [NCBI36]
Chr15:15q21.1-21.3		 pathogenic
NM_001128610.2(USP8):c.687-1732G>T single nucleotide variant Lung cancer [RCV000099539] Chr15:50469901 [GRCh38]
Chr15:50762098 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.3292T>G (p.Ser1098Ala) single nucleotide variant Hereditary spastic paraplegia [RCV001348238] Chr15:50499023 [GRCh38]
Chr15:50791220 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del) microsatellite Pituitary dependent hypercortisolism [RCV000149416] Chr15:50490442..50490444 [GRCh38]
Chr15:50782639..50782641 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) single nucleotide variant Pituitary dependent hypercortisolism [RCV000149417] Chr15:50490443 [GRCh38]
Chr15:50782640 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys) single nucleotide variant Pituitary dependent hypercortisolism [RCV000149418] Chr15:50490444 [GRCh38]
Chr15:50782641 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) single nucleotide variant Pituitary dependent hypercortisolism [RCV000149420] Chr15:50490450 [GRCh38]
Chr15:50782647 [GRCh37]
Chr15:15q21.2		 pathogenic
GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1 copy number loss See cases [RCV000135639] Chr15:47460844..52494222 [GRCh38]
Chr15:47753041..52786419 [GRCh37]
Chr15:45540333..50573711 [NCBI36]
Chr15:15q21.1-21.2		 pathogenic
NM_005154.5(USP8):c.1084A>G (p.Ile362Val) single nucleotide variant Hereditary spastic paraplegia [RCV000532955] Chr15:50477365 [GRCh38]
Chr15:50769562 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2971C>T (p.Arg991Ter) single nucleotide variant not provided [RCV001169927] Chr15:50497164 [GRCh38]
Chr15:50789361 [GRCh37]
Chr15:15q21.2		 pathogenic
NM_005154.5(USP8):c.1448G>A (p.Arg483Gln) single nucleotide variant Hereditary spastic paraplegia [RCV000557543]|USP8-related disorder [RCV003915496]|not provided [RCV004716522] Chr15:50481710 [GRCh38]
Chr15:50773907 [GRCh37]
Chr15:15q21.2		 benign
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q21.1-21.2(chr15:48940736-51309941)x1 copy number loss See cases [RCV000447625] Chr15:48940736..51309941 [GRCh37]
Chr15:15q21.1-21.2		 uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1 copy number loss See cases [RCV000448968] Chr15:41689327..52446981 [GRCh37]
Chr15:15q15.1-21.2		 pathogenic
NM_005154.5(USP8):c.3130C>G (p.Pro1044Ala) single nucleotide variant not provided [RCV000509313] Chr15:50498687 [GRCh38]
Chr15:50790884 [GRCh37]
Chr15:15q21.2		 not provided
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q21.2(chr15:50718893-51246087)x3 copy number gain See cases [RCV000510872] Chr15:50718893..51246087 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.397C>T (p.Arg133Trp) single nucleotide variant Hereditary spastic paraplegia [RCV000633121]|not provided [RCV004691965] Chr15:50459061 [GRCh38]
Chr15:50751258 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.802T>A (p.Leu268Ile) single nucleotide variant Hereditary spastic paraplegia [RCV000535635]|not provided [RCV004715257] Chr15:50471748 [GRCh38]
Chr15:50763945 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.1857T>C (p.Phe619=) single nucleotide variant Hereditary spastic paraplegia [RCV000536150]|not provided [RCV004716523] Chr15:50484328 [GRCh38]
Chr15:50776525 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.823C>T (p.Arg275Trp) single nucleotide variant Hereditary spastic paraplegia [RCV000633119] Chr15:50471769 [GRCh38]
Chr15:50763966 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2443A>G (p.Asn815Asp) single nucleotide variant Hereditary spastic paraplegia [RCV000633120] Chr15:50492909 [GRCh38]
Chr15:50785106 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2511G>A (p.Leu837=) single nucleotide variant Hereditary spastic paraplegia [RCV000633123]|not provided [RCV004716595] Chr15:50494133 [GRCh38]
Chr15:50786330 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.1296A>G (p.Gln432=) single nucleotide variant Hereditary spastic paraplegia [RCV000633124] Chr15:50481558 [GRCh38]
Chr15:50773755 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.1162A>G (p.Lys388Glu) single nucleotide variant Hereditary spastic paraplegia [RCV000633125]|not provided [RCV004716596] Chr15:50477443 [GRCh38]
Chr15:50769640 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.1042G>A (p.Ala348Thr) single nucleotide variant Hereditary spastic paraplegia [RCV000559198]|not provided [RCV004715255] Chr15:50477323 [GRCh38]
Chr15:50769520 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.3033G>A (p.Leu1011=) single nucleotide variant Hereditary spastic paraplegia [RCV000557319]|not provided [RCV004716524] Chr15:50497226 [GRCh38]
Chr15:50789423 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.583A>G (p.Lys195Glu) single nucleotide variant Hereditary spastic paraplegia [RCV000633122] Chr15:50465088 [GRCh38]
Chr15:50757285 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.2320C>G (p.Pro774Ala) single nucleotide variant Hereditary spastic paraplegia [RCV000700781] Chr15:50492786 [GRCh38]
Chr15:50784983 [GRCh37]
Chr15:15q21.2		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
GRCh37/hg19 15q15.3-21.3(chr15:43759773-53252240)x1 copy number loss not provided [RCV000683686] Chr15:43759773..53252240 [GRCh37]
Chr15:15q15.3-21.3		 pathogenic
GRCh37/hg19 15q21.2-21.3(chr15:50727285-57603305)x3 copy number gain not provided [RCV000683691] Chr15:50727285..57603305 [GRCh37]
Chr15:15q21.2-21.3		 pathogenic
NM_005154.5(USP8):c.335+7A>G single nucleotide variant Hereditary spastic paraplegia [RCV000689968] Chr15:50449492 [GRCh38]
Chr15:50741689 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.865G>A (p.Val289Ile) single nucleotide variant Hereditary spastic paraplegia [RCV000691735] Chr15:50476864 [GRCh38]
Chr15:50769061 [GRCh37]
Chr15:15q21.2		 uncertain significance
NC_000015.9:g.(?_50789266)_(50791305_?)dup duplication Hereditary spastic paraplegia [RCV000708299] Chr15:50497069..50499108 [GRCh38]
Chr15:50789266..50791305 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_005154.5(USP8):c.1675C>T (p.His559Tyr) single nucleotide variant Hereditary spastic paraplegia [RCV000875024]|USP8-related disorder [RCV003908313]|not provided [RCV004715345] Chr15:50481937 [GRCh38]
Chr15:50774134 [GRCh37]
Chr15:15q21.2		 benign|likely benign
NM_005154.5(USP8):c.564A>G (p.Leu188=) single nucleotide variant Hereditary spastic paraplegia [RCV000897089] Chr15:50465069 [GRCh38]
Chr15:50757266 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1219-5T>C single nucleotide variant not provided [RCV000929557] Chr15:50481476 [GRCh38]
Chr15:50773673 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.36C>T (p.Tyr12=) single nucleotide variant Hereditary spastic paraplegia [RCV000972040] Chr15:50439109 [GRCh38]
Chr15:50731306 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.2895+3_2895+7dup duplication not provided [RCV000877553] Chr15:50496085..50496086 [GRCh38]
Chr15:50788282..50788283 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.541+9G>A single nucleotide variant Hereditary spastic paraplegia [RCV000876245] Chr15:50462331 [GRCh38]
Chr15:50754528 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1148C>T (p.Pro383Leu) single nucleotide variant Hereditary spastic paraplegia [RCV001431368] Chr15:50477429 [GRCh38]
Chr15:50769626 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.2754T>C (p.Asn918=) single nucleotide variant not provided [RCV000918075] Chr15:50495943 [GRCh38]
Chr15:50788140 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1516A>C (p.Lys506Gln) single nucleotide variant Hereditary spastic paraplegia [RCV000872191]|not provided [RCV003456447] Chr15:50481778 [GRCh38]
Chr15:50773975 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.297C>A (p.Val99=) single nucleotide variant Hereditary spastic paraplegia [RCV000875327] Chr15:50449447 [GRCh38]
Chr15:50741644 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.2383C>T (p.Leu795=) single nucleotide variant Hereditary spastic paraplegia [RCV001454764] Chr15:50492849 [GRCh38]
Chr15:50785046 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.2331T>C (p.Thr777=) single nucleotide variant Hereditary spastic paraplegia [RCV000874042] Chr15:50492797 [GRCh38]
Chr15:50784994 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.24T>C (p.Pro8=) single nucleotide variant not provided [RCV000918841] Chr15:50439097 [GRCh38]
Chr15:50731294 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.400C>T (p.Leu134=) single nucleotide variant Hereditary spastic paraplegia [RCV000874746]|not provided [RCV004715344] Chr15:50459064 [GRCh38]
Chr15:50751261 [GRCh37]
Chr15:15q21.2		 benign
NM_203494.5(USP50):c.962G>C (p.Gly321Ala) single nucleotide variant not provided [RCV000948956] Chr15:50500812 [GRCh38]
Chr15:50793009 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.2391C>T (p.Asn797=) single nucleotide variant Hereditary spastic paraplegia [RCV005092648]|not provided [RCV000894705] Chr15:50492857 [GRCh38]
Chr15:50785054 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1531G>C (p.Glu511Gln) single nucleotide variant Hereditary spastic paraplegia [RCV000807610] Chr15:50481793 [GRCh38]
Chr15:50773990 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2246A>G (p.Tyr749Cys) single nucleotide variant Hereditary spastic paraplegia [RCV000815035] Chr15:50492712 [GRCh38]
Chr15:50784909 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.2-21.3(chr15:50083229-53439931)x1 copy number loss not provided [RCV000848123] Chr15:50083229..53439931 [GRCh37]
Chr15:15q21.2-21.3		 uncertain significance
NM_005154.5(USP8):c.1460A>G (p.Gln487Arg) single nucleotide variant Hereditary spastic paraplegia [RCV000798738] Chr15:50481722 [GRCh38]
Chr15:50773919 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1872C>T (p.Asp624=) single nucleotide variant Hereditary spastic paraplegia [RCV000871151]|not provided [RCV004704237] Chr15:50484343 [GRCh38]
Chr15:50776540 [GRCh37]
Chr15:15q21.2		 likely benign
GRCh37/hg19 15q21.1-21.3(chr15:49031132-56740397)x3 copy number gain not provided [RCV000849275] Chr15:49031132..56740397 [GRCh37]
Chr15:15q21.1-21.3		 pathogenic
GRCh37/hg19 15q21.1-22.2(chr15:48000433-60747551)x3 copy number gain not provided [RCV000845891] Chr15:48000433..60747551 [GRCh37]
Chr15:15q21.1-22.2		 pathogenic
NM_005154.5(USP8):c.1922G>A (p.Ser641Asn) single nucleotide variant Hereditary spastic paraplegia [RCV001226138] Chr15:50489832 [GRCh38]
Chr15:50782029 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.2(chr15:50727191-51138573)x3 copy number gain not provided [RCV000846770] Chr15:50727191..51138573 [GRCh37]
Chr15:15q21.2		 uncertain significance
NC_000015.9:g.(?_50731271)_(54025330_?)dup duplication not provided [RCV003105626] Chr15:50731271..54025330 [GRCh37]
Chr15:15q21.2-21.3		 uncertain significance
NM_005154.5(USP8):c.1330C>T (p.Arg444Cys) single nucleotide variant Autosomal recessive spastic paraplegia type 59 [RCV004765340]|Hereditary spastic paraplegia [RCV002064746] Chr15:50481592 [GRCh38]
Chr15:50773789 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_005154.5(USP8):c.2896-9T>C single nucleotide variant Hereditary spastic paraplegia [RCV000874525] Chr15:50497080 [GRCh38]
Chr15:50789277 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.250-8A>C single nucleotide variant Hereditary spastic paraplegia [RCV005092919]|not provided [RCV000963316] Chr15:50449392 [GRCh38]
Chr15:50741589 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.2634T>C (p.Asp878=) single nucleotide variant not provided [RCV000903868] Chr15:50494256 [GRCh38]
Chr15:50786453 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.762G>A (p.Glu254=) single nucleotide variant Hereditary spastic paraplegia [RCV002548235]|USP8-related disorder [RCV003942989]|not provided [RCV003392704] Chr15:50471708 [GRCh38]
Chr15:50763905 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1015T>C (p.Leu339=) single nucleotide variant not provided [RCV000932087] Chr15:50477296 [GRCh38]
Chr15:50769493 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.634G>A (p.Asp212Asn) single nucleotide variant Hereditary spastic paraplegia [RCV000876098]|USP8-related disorder [RCV003955736] Chr15:50465139 [GRCh38]
Chr15:50757336 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1464G>A (p.Glu488=) single nucleotide variant Hereditary spastic paraplegia [RCV001517106] Chr15:50481726 [GRCh38]
Chr15:50773923 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.2842G>C (p.Ala948Pro) single nucleotide variant Hereditary spastic paraplegia [RCV001207175] Chr15:50496031 [GRCh38]
Chr15:50788228 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.3105T>G (p.Leu1035=) single nucleotide variant not provided [RCV000890074] Chr15:50498662 [GRCh38]
Chr15:50790859 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.2235-9C>T single nucleotide variant Hereditary spastic paraplegia [RCV002548265] Chr15:50492692 [GRCh38]
Chr15:50784889 [GRCh37]
Chr15:15q21.2		 likely benign
GRCh37/hg19 15q21.1-21.2(chr15:47192561-50819726)x1 copy number loss not provided [RCV001006685] Chr15:47192561..50819726 [GRCh37]
Chr15:15q21.1-21.2		 pathogenic
NM_005154.5(USP8):c.-58G>C single nucleotide variant not provided [RCV001723043] Chr15:50439016 [GRCh38]
Chr15:50731213 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.1129A>G (p.Ile377Val) single nucleotide variant Hereditary spastic paraplegia [RCV001069592] Chr15:50477410 [GRCh38]
Chr15:50769607 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.254A>C (p.Tyr85Ser) single nucleotide variant Hereditary spastic paraplegia [RCV001215011] Chr15:50449404 [GRCh38]
Chr15:50741601 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.886G>A (p.Val296Ile) single nucleotide variant Hereditary spastic paraplegia [RCV001246142] Chr15:50476885 [GRCh38]
Chr15:50769082 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2297A>G (p.Asn766Ser) single nucleotide variant Hereditary spastic paraplegia [RCV001205749] Chr15:50492763 [GRCh38]
Chr15:50784960 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.3334C>T (p.Arg1112Ter) single nucleotide variant Hereditary spastic paraplegia [RCV001213502]|not provided [RCV004695185]|not specified [RCV002249800] Chr15:50499065 [GRCh38]
Chr15:50791262 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.748A>C (p.Arg250=) single nucleotide variant not provided [RCV001257173] Chr15:50471694 [GRCh38]
Chr15:50763891 [GRCh37]
Chr15:15q21.2		 likely benign
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_005154.5(USP8):c.2291A>G (p.Asn764Ser) single nucleotide variant Hereditary spastic paraplegia [RCV001294286] Chr15:50492757 [GRCh38]
Chr15:50784954 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.1-21.3(chr15:48744917-53851050)x1 copy number loss not provided [RCV001270659] Chr15:48744917..53851050 [GRCh37]
Chr15:15q21.1-21.3		 pathogenic
NM_005154.5(USP8):c.1120C>A (p.Pro374Thr) single nucleotide variant Hereditary spastic paraplegia [RCV001370618] Chr15:50477401 [GRCh38]
Chr15:50769598 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2307T>C (p.Phe769=) single nucleotide variant Hereditary spastic paraplegia [RCV001415033] Chr15:50492773 [GRCh38]
Chr15:50784970 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1053G>A (p.Thr351=) single nucleotide variant Hereditary spastic paraplegia [RCV001421989] Chr15:50477334 [GRCh38]
Chr15:50769531 [GRCh37]
Chr15:15q21.2		 likely benign
NC_000015.9:g.(?_50731261)_(50791295_?)dup duplication Hereditary spastic paraplegia [RCV001362835] Chr15:50731261..50791295 [GRCh37]
Chr15:15q21.2		 uncertain significance
NC_000015.9:g.(?_50789266)_(50791305_?)dup duplication Hereditary spastic paraplegia [RCV001304847] Chr15:50789266..50791305 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1050G>T (p.Gln350His) single nucleotide variant Hereditary spastic paraplegia [RCV001341214] Chr15:50477331 [GRCh38]
Chr15:50769528 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1296= (p.Gln432=) variation Hereditary spastic paraplegia [RCV001515377]|not provided [RCV004715446] Chr15:50481558 [GRCh38]
Chr15:50773755 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.1840C>T (p.Leu614=) single nucleotide variant Hereditary spastic paraplegia [RCV001497087] Chr15:50484311 [GRCh38]
Chr15:50776508 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.2215A>G (p.Thr739Ala) single nucleotide variant Hereditary spastic paraplegia [RCV001522628]|not provided [RCV004715473] Chr15:50490506 [GRCh38]
Chr15:50782703 [GRCh37]
Chr15:15q21.2		 benign
GRCh37/hg19 15q21.2(chr15:50550911-50902848) copy number loss Neurodevelopmental delay [RCV002280698] Chr15:50550911..50902848 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1540A>G (p.Ile514Val) single nucleotide variant Hereditary spastic paraplegia [RCV001889072] Chr15:50481802 [GRCh38]
Chr15:50773999 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.775C>A (p.Leu259Ile) single nucleotide variant Hereditary spastic paraplegia [RCV001874863] Chr15:50471721 [GRCh38]
Chr15:50763918 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.1-21.2(chr15:48940736-51309941) copy number loss not specified [RCV002052474] Chr15:48940736..51309941 [GRCh37]
Chr15:15q21.1-21.2		 uncertain significance
GRCh37/hg19 15q21.2(chr15:50733977-51138579)x3 copy number gain not provided [RCV001832906] Chr15:50733977..51138579 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1726C>T (p.Pro576Ser) single nucleotide variant Hereditary spastic paraplegia [RCV002003200] Chr15:50481988 [GRCh38]
Chr15:50774185 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1597G>A (p.Ala533Thr) single nucleotide variant Hereditary spastic paraplegia [RCV001926892] Chr15:50481859 [GRCh38]
Chr15:50774056 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1310G>A (p.Ser437Asn) single nucleotide variant Hereditary spastic paraplegia [RCV002004595] Chr15:50481572 [GRCh38]
Chr15:50773769 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.1-21.3(chr15:47635238-56509908) copy number loss not specified [RCV002052472] Chr15:47635238..56509908 [GRCh37]
Chr15:15q21.1-21.3		 pathogenic
NM_005154.5(USP8):c.2972G>A (p.Arg991Gln) single nucleotide variant Hereditary spastic paraplegia [RCV001894769] Chr15:50497165 [GRCh38]
Chr15:50789362 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2108C>A (p.Pro703His) single nucleotide variant Hereditary spastic paraplegia [RCV001883586]|Pituitary dependent hypercortisolism [RCV002490098] Chr15:50490399 [GRCh38]
Chr15:50782596 [GRCh37]
Chr15:15q21.2		 uncertain significance
NC_000015.9:g.(?_50789266)_(50791285_?)dup duplication Hereditary spastic paraplegia [RCV001920576] Chr15:50789266..50791285 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1925A>C (p.Glu642Ala) single nucleotide variant Hereditary spastic paraplegia [RCV001993947] Chr15:50489835 [GRCh38]
Chr15:50782032 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2624T>C (p.Phe875Ser) single nucleotide variant Hereditary spastic paraplegia [RCV002027187] Chr15:50494246 [GRCh38]
Chr15:50786443 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.317C>G (p.Ser106Cys) single nucleotide variant Hereditary spastic paraplegia [RCV001934338] Chr15:50449467 [GRCh38]
Chr15:50741664 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1553A>C (p.Gln518Pro) single nucleotide variant Hereditary spastic paraplegia [RCV001875523] Chr15:50481815 [GRCh38]
Chr15:50774012 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.587A>C (p.Asn196Thr) single nucleotide variant Hereditary spastic paraplegia [RCV001981784] Chr15:50465092 [GRCh38]
Chr15:50757289 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1775C>T (p.Ser592Phe) single nucleotide variant Hereditary spastic paraplegia [RCV001880873] Chr15:50482037 [GRCh38]
Chr15:50774234 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1674A>T (p.Glu558Asp) single nucleotide variant Hereditary spastic paraplegia [RCV001978612] Chr15:50481936 [GRCh38]
Chr15:50774133 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.659G>A (p.Ser220Asn) single nucleotide variant Hereditary spastic paraplegia [RCV002013869] Chr15:50465164 [GRCh38]
Chr15:50757361 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2532T>C (p.Tyr844=) single nucleotide variant Hereditary spastic paraplegia [RCV002105103] Chr15:50494154 [GRCh38]
Chr15:50786351 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1692C>G (p.Ala564=) single nucleotide variant Hereditary spastic paraplegia [RCV002071817] Chr15:50481954 [GRCh38]
Chr15:50774151 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.3180C>T (p.Tyr1060=) single nucleotide variant Hereditary spastic paraplegia [RCV002131003]|not provided [RCV004809789] Chr15:50498911 [GRCh38]
Chr15:50791108 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.3038+16T>G single nucleotide variant Hereditary spastic paraplegia [RCV002132239]|not provided [RCV004716873] Chr15:50497247 [GRCh38]
Chr15:50789444 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.2121T>C (p.Asp707=) single nucleotide variant Hereditary spastic paraplegia [RCV002135181] Chr15:50490412 [GRCh38]
Chr15:50782609 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1090T>C (p.Leu364=) single nucleotide variant Hereditary spastic paraplegia [RCV002117175] Chr15:50477371 [GRCh38]
Chr15:50769568 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.104+16C>T single nucleotide variant Hereditary spastic paraplegia [RCV002132490]|not provided [RCV004716874] Chr15:50439193 [GRCh38]
Chr15:50731390 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.2287C>T (p.Arg763Trp) single nucleotide variant Hereditary spastic paraplegia [RCV002132358]|not provided [RCV004715604] Chr15:50492753 [GRCh38]
Chr15:50784950 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.1365C>T (p.Leu455=) single nucleotide variant Hereditary spastic paraplegia [RCV002108514] Chr15:50481627 [GRCh38]
Chr15:50773824 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.2292C>A (p.Asn764Lys) single nucleotide variant Hereditary spastic paraplegia [RCV002139107]|not provided [RCV004715621] Chr15:50492758 [GRCh38]
Chr15:50784955 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.1773A>C (p.Thr591=) single nucleotide variant Hereditary spastic paraplegia [RCV002218779] Chr15:50482035 [GRCh38]
Chr15:50774232 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.249+21_249+23del deletion Hereditary spastic paraplegia [RCV002160279] Chr15:50441512..50441514 [GRCh38]
Chr15:50733709..50733711 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.250-15T>C single nucleotide variant Hereditary spastic paraplegia [RCV002118626] Chr15:50449385 [GRCh38]
Chr15:50741582 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.3172-16_3172-13dup duplication Hereditary spastic paraplegia [RCV002136910] Chr15:50498883..50498884 [GRCh38]
Chr15:50791080..50791081 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.1434A>G (p.Gln478=) single nucleotide variant Hereditary spastic paraplegia [RCV002124007] Chr15:50481696 [GRCh38]
Chr15:50773893 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.2523G>A (p.Gln841=) single nucleotide variant Hereditary spastic paraplegia [RCV002122260] Chr15:50494145 [GRCh38]
Chr15:50786342 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1052C>T (p.Thr351Met) single nucleotide variant Hereditary spastic paraplegia [RCV003122069] Chr15:50477333 [GRCh38]
Chr15:50769530 [GRCh37]
Chr15:15q21.2		 benign
GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3 copy number gain not provided [RCV002472512] Chr15:48589845..63543438 [GRCh37]
Chr15:15q21.1-22.2		 pathogenic
GRCh37/hg19 15q21.2(chr15:50705605-50770917)x1 copy number loss not provided [RCV002475780] Chr15:50705605..50770917 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1873G>A (p.Asp625Asn) single nucleotide variant Hereditary spastic paraplegia [RCV002971231] Chr15:50484344 [GRCh38]
Chr15:50776541 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2519G>A (p.Gly840Glu) single nucleotide variant Hereditary spastic paraplegia [RCV002843701] Chr15:50494141 [GRCh38]
Chr15:50786338 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.952_955dup (p.Pro319fs) duplication Hereditary spastic paraplegia [RCV002867115] Chr15:50476948..50476949 [GRCh38]
Chr15:50769145..50769146 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.3018G>A (p.Val1006=) single nucleotide variant Hereditary spastic paraplegia [RCV003081208] Chr15:50497211 [GRCh38]
Chr15:50789408 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1213C>T (p.Pro405Ser) single nucleotide variant Hereditary spastic paraplegia [RCV002926647] Chr15:50477494 [GRCh38]
Chr15:50769691 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.268C>T (p.Leu90Phe) single nucleotide variant Hereditary spastic paraplegia [RCV002640037] Chr15:50449418 [GRCh38]
Chr15:50741615 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1891-17T>A single nucleotide variant Hereditary spastic paraplegia [RCV002927408] Chr15:50489784 [GRCh38]
Chr15:50781981 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.479C>G (p.Ser160Cys) single nucleotide variant Hereditary spastic paraplegia [RCV002952985] Chr15:50459143 [GRCh38]
Chr15:50751340 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2983C>G (p.Leu995Val) single nucleotide variant Hereditary spastic paraplegia [RCV003040732] Chr15:50497176 [GRCh38]
Chr15:50789373 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1022A>G (p.Glu341Gly) single nucleotide variant Hereditary spastic paraplegia [RCV002742011] Chr15:50477303 [GRCh38]
Chr15:50769500 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.802T>G (p.Leu268Val) single nucleotide variant Hereditary spastic paraplegia [RCV003057405] Chr15:50471748 [GRCh38]
Chr15:50763945 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.335+4C>G single nucleotide variant Hereditary spastic paraplegia [RCV002791222] Chr15:50449489 [GRCh38]
Chr15:50741686 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2235-20G>T single nucleotide variant Hereditary spastic paraplegia [RCV002581951] Chr15:50492681 [GRCh38]
Chr15:50784878 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.499-13T>C single nucleotide variant Hereditary spastic paraplegia [RCV002933918] Chr15:50462267 [GRCh38]
Chr15:50754464 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.3119A>G (p.Tyr1040Cys) single nucleotide variant Hereditary spastic paraplegia [RCV003063636] Chr15:50498676 [GRCh38]
Chr15:50790873 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.515A>G (p.Asn172Ser) single nucleotide variant Hereditary spastic paraplegia [RCV002632108] Chr15:50462296 [GRCh38]
Chr15:50754493 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.3335G>A (p.Arg1112Gln) single nucleotide variant Hereditary spastic paraplegia [RCV003067338] Chr15:50499066 [GRCh38]
Chr15:50791263 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.3326T>C (p.Leu1109Ser) single nucleotide variant Hereditary spastic paraplegia [RCV002725829] Chr15:50499057 [GRCh38]
Chr15:50791254 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1218+17A>T single nucleotide variant Hereditary spastic paraplegia [RCV002944106] Chr15:50477516 [GRCh38]
Chr15:50769713 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1972-20T>G single nucleotide variant Hereditary spastic paraplegia [RCV002587949] Chr15:50490243 [GRCh38]
Chr15:50782440 [GRCh37]
Chr15:15q21.2		 likely benign
GRCh37/hg19 15q21.2(chr15:49775348-51221365)x1 copy number loss not provided [RCV003326927] Chr15:49775348..51221365 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.1-21.3(chr15:49390592-56800964)x1 copy number loss not provided [RCV003483230] Chr15:49390592..56800964 [GRCh37]
Chr15:15q21.1-21.3		 pathogenic
Single allele deletion not provided [RCV003448697] Chr15:41321409..51718601 [GRCh37]
Chr15:15q15.1-21.2		 pathogenic
GRCh37/hg19 15q21.2(chr15:50582422-51322910)x1 copy number loss not provided [RCV003483233] Chr15:50582422..51322910 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.2(chr15:50595262-51210478)x3 copy number gain not provided [RCV003485065] Chr15:50595262..51210478 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.2(chr15:50749119-51455096)x3 copy number gain not provided [RCV003485066] Chr15:50749119..51455096 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.964C>T (p.Arg322Ter) single nucleotide variant USP8-related disorder [RCV003399819] Chr15:50476963 [GRCh38]
Chr15:50769160 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1551G>A (p.Lys517=) single nucleotide variant not provided [RCV003394838] Chr15:50481813 [GRCh38]
Chr15:50774010 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.824G>A (p.Arg275Gln) single nucleotide variant Hereditary spastic paraplegia [RCV003646447] Chr15:50471770 [GRCh38]
Chr15:50763967 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1299A>G (p.Gln433=) single nucleotide variant Hereditary spastic paraplegia [RCV003646013] Chr15:50481561 [GRCh38]
Chr15:50773758 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.104+17G>A single nucleotide variant Hereditary spastic paraplegia [RCV003646122] Chr15:50439194 [GRCh38]
Chr15:50731391 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1151T>A (p.Val384Asp) single nucleotide variant Hereditary spastic paraplegia [RCV003646789] Chr15:50477432 [GRCh38]
Chr15:50769629 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.3290A>T (p.Lys1097Ile) single nucleotide variant Hereditary spastic paraplegia [RCV003646279] Chr15:50499021 [GRCh38]
Chr15:50791218 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1878C>T (p.Thr626=) single nucleotide variant Hereditary spastic paraplegia [RCV003646830] Chr15:50484349 [GRCh38]
Chr15:50776546 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.2746C>A (p.Gln916Lys) single nucleotide variant Hereditary spastic paraplegia [RCV003646845] Chr15:50495935 [GRCh38]
Chr15:50788132 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1947A>G (p.Pro649=) single nucleotide variant Hereditary spastic paraplegia [RCV003646943] Chr15:50489857 [GRCh38]
Chr15:50782054 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.542-19T>C single nucleotide variant Hereditary spastic paraplegia [RCV003646438] Chr15:50465028 [GRCh38]
Chr15:50757225 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1148C>A (p.Pro383Gln) single nucleotide variant Hereditary spastic paraplegia [RCV003876093] Chr15:50477429 [GRCh38]
Chr15:50769626 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1896A>G (p.Gln632=) single nucleotide variant Hereditary spastic paraplegia [RCV003647084] Chr15:50489806 [GRCh38]
Chr15:50782003 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.104+20A>G single nucleotide variant Hereditary spastic paraplegia [RCV003646428] Chr15:50439197 [GRCh38]
Chr15:50731394 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.104+5G>C single nucleotide variant Hereditary spastic paraplegia [RCV003647101] Chr15:50439182 [GRCh38]
Chr15:50731379 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.965G>A (p.Arg322Gln) single nucleotide variant Hereditary spastic paraplegia [RCV003646604]|USP8-related disorder [RCV003901267] Chr15:50476964 [GRCh38]
Chr15:50769161 [GRCh37]
Chr15:15q21.2		 likely benign|uncertain significance
NM_005154.5(USP8):c.578C>T (p.Thr193Met) single nucleotide variant Hereditary spastic paraplegia [RCV003646635] Chr15:50465083 [GRCh38]
Chr15:50757280 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.494A>T (p.Gln165Leu) single nucleotide variant Hereditary spastic paraplegia [RCV003646031] Chr15:50459158 [GRCh38]
Chr15:50751355 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1859G>A (p.Arg620Lys) single nucleotide variant Hereditary spastic paraplegia [RCV003645993] Chr15:50484330 [GRCh38]
Chr15:50776527 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.513G>C (p.Lys171Asn) single nucleotide variant Hereditary spastic paraplegia [RCV003534288] Chr15:50462294 [GRCh38]
Chr15:50754491 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.530C>G (p.Thr177Ser) single nucleotide variant Hereditary spastic paraplegia [RCV003534228] Chr15:50462311 [GRCh38]
Chr15:50754508 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.297C>T (p.Val99=) single nucleotide variant Hereditary spastic paraplegia [RCV003534142] Chr15:50449447 [GRCh38]
Chr15:50741644 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1219-20C>G single nucleotide variant Hereditary spastic paraplegia [RCV003534178] Chr15:50481461 [GRCh38]
Chr15:50773658 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.808A>G (p.Ile270Val) single nucleotide variant Hereditary spastic paraplegia [RCV003534235] Chr15:50471754 [GRCh38]
Chr15:50763951 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.3079T>A (p.Ser1027Thr) single nucleotide variant Hereditary spastic paraplegia [RCV003534202] Chr15:50498636 [GRCh38]
Chr15:50790833 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1620C>T (p.Thr540=) single nucleotide variant Hereditary spastic paraplegia [RCV003531532] Chr15:50481882 [GRCh38]
Chr15:50774079 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.3038+22_3038+24del microsatellite Hereditary spastic paraplegia [RCV003842531] Chr15:50497249..50497251 [GRCh38]
Chr15:50789446..50789448 [GRCh37]
Chr15:15q21.2		 likely benign
NM_005154.5(USP8):c.1573A>T (p.Met525Leu) single nucleotide variant Hereditary spastic paraplegia [RCV003824106] Chr15:50481835 [GRCh38]
Chr15:50774032 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2835A>T (p.Thr945=) single nucleotide variant not provided [RCV003886967] Chr15:50496024 [GRCh38]
Chr15:50788221 [GRCh37]
Chr15:15q21.2		 likely benign
NM_203494.5(USP50):c.1000G>C (p.Ala334Pro) single nucleotide variant not specified [RCV004477585] Chr15:50500774 [GRCh38]
Chr15:50792971 [GRCh37]
Chr15:15q21.2		 uncertain significance
NC_000015.9:g.(?_50731271)_(51634264_?)dup duplication not provided [RCV004583141] Chr15:50731271..51634264 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.673G>A (p.Ala225Thr) single nucleotide variant USP8-related disorder [RCV004752441] Chr15:50465178 [GRCh38]
Chr15:50757375 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2861T>C (p.Leu954Pro) single nucleotide variant not provided [RCV004810068] Chr15:50496050 [GRCh38]
Chr15:50788247 [GRCh37]
Chr15:15q21.2		 uncertain significance
GRCh37/hg19 15q21.2(chr15:50512187-50905780)x1 copy number loss not provided [RCV004819872] Chr15:50512187..50905780 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1301CTC[1] (p.Pro435del) microsatellite Hereditary spastic paraplegia [RCV005195354] Chr15:50481563..50481565 [GRCh38]
Chr15:50773760..50773762 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2879_2895+12dup duplication Hereditary spastic paraplegia [RCV005171066] Chr15:50496066..50496067 [GRCh38]
Chr15:50788263..50788264 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2320C>T (p.Pro774Ser) single nucleotide variant Hereditary spastic paraplegia [RCV005179592] Chr15:50492786 [GRCh38]
Chr15:50784983 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.286A>C (p.Lys96Gln) single nucleotide variant Hereditary spastic paraplegia [RCV005206648] Chr15:50449436 [GRCh38]
Chr15:50741633 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.3353C>A (p.Thr1118Lys) single nucleotide variant Hereditary spastic paraplegia [RCV005190452] Chr15:50499084 [GRCh38]
Chr15:50791281 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2896-8dup duplication Hereditary spastic paraplegia [RCV005144297] Chr15:50497074..50497075 [GRCh38]
Chr15:50789271..50789272 [GRCh37]
Chr15:15q21.2		 benign
NM_005154.5(USP8):c.407A>C (p.Gln136Pro) single nucleotide variant Hereditary spastic paraplegia [RCV005168989] Chr15:50459071 [GRCh38]
Chr15:50751268 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.930G>T (p.Gln310His) single nucleotide variant Hereditary spastic paraplegia [RCV005138806] Chr15:50476929 [GRCh38]
Chr15:50769126 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1637A>G (p.Lys546Arg) single nucleotide variant Hereditary spastic paraplegia [RCV005137116] Chr15:50481899 [GRCh38]
Chr15:50774096 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.988A>G (p.Ile330Val) single nucleotide variant Hereditary spastic paraplegia [RCV005083594] Chr15:50476987 [GRCh38]
Chr15:50769184 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.2809C>T (p.Leu937Phe) single nucleotide variant Hereditary spastic paraplegia [RCV005180067] Chr15:50495998 [GRCh38]
Chr15:50788195 [GRCh37]
Chr15:15q21.2		 uncertain significance
NM_005154.5(USP8):c.1793G>T (p.Gly598Val) single nucleotide variant Hereditary spastic paraplegia [RCV005111543] Chr15:50482055 [GRCh38]
Chr15:50774252 [GRCh37]
Chr15:15q21.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:3547
Count of miRNA genes:952
Interacting mature miRNAs:1157
Transcripts:ENST00000307179, ENST00000396444, ENST00000419830, ENST00000425032, ENST00000433963, ENST00000558091, ENST00000558892, ENST00000559242, ENST00000559329, ENST00000560297, ENST00000560379, ENST00000560527, ENST00000560730, ENST00000560885, ENST00000560954, ENST00000560982, ENST00000561206, ENST00000561211, ENST00000561330
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597610390GWAS1667250_Hmonocyte count QTL GWAS1667250 (human)4e-11monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)155047805750478058Human
597341843GWAS1437917_Hosteoarthritis QTL GWAS1437917 (human)6e-08osteoarthritis155048736250487363Human
597027358GWAS1123432_Hsystolic blood pressure QTL GWAS1123432 (human)2e-08systolic blood pressuresystolic blood pressure (CMO:0000004)155046871350468714Human
597460625GWAS1556699_Hosteoarthritis, knee QTL GWAS1556699 (human)0.000005osteoarthritis, hip, osteoarthritis, knee155049522850495229Human
1643273BW330_HBody Weight QTL 330 (human)1.050.014Body weightbody mass index152686671952866719Human
597339914GWAS1435988_Hosteoarthritis QTL GWAS1435988 (human)1e-10osteoarthritis155048736250487363Human
597360777GWAS1456851_Hneutrophil count, eosinophil count QTL GWAS1456851 (human)6e-12eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)155050789850507899Human
597176843GWAS1272917_Hprotein measurement QTL GWAS1272917 (human)1e-16protein measurement155049281950492820Human
2299958PRSTS330_HProstate tumor susceptibility QTL 330 (human)1.020.0151Prostate tumor susceptibility153479023060790230Human
597361282GWAS1457356_Hgranulocyte count QTL GWAS1457356 (human)2e-11granulocyte count155050789850507899Human
597493383GWAS1589457_Hosteoarthritis QTL GWAS1589457 (human)0.000001osteoarthritis155049535950495360Human
597125557GWAS1221631_Hosteoarthritis, knee QTL GWAS1221631 (human)9e-10osteoarthritis, knee155046723150467232Human
597026225GWAS1122299_Hhypertension QTL GWAS1122299 (human)8e-10hypertension155046442650464427Human
1559354LDLPS4_HLow density lipoprotein particle size QTL 4 (human)2.20.019LDL particle size153479023060790230Human
597256361GWAS1352435_Htotal cholesterol measurement QTL GWAS1352435 (human)1e-18total cholesterol measurementblood total cholesterol level (CMO:0000051)155049279350492794Human
597248424GWAS1344498_Hblood phosphate measurement QTL GWAS1344498 (human)7e-11blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)155043340550433406Human
597255714GWAS1351788_Htriglyceride measurement QTL GWAS1351788 (human)1e-15triglyceride measurementblood triglyceride level (CMO:0000118)155049279350492794Human
597169956GWAS1266030_Hcyclic AMP-responsive element-binding protein 3-like protein 4 measurement QTL GWAS1266030 (human)5e-112cyclic AMP-responsive element-binding protein 3-like protein 4 measurement155049279350492794Human
597245735GWAS1341809_Hblood protein measurement QTL GWAS1341809 (human)2e-13blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)155049279350492794Human
597172697GWAS1268771_Hrac GTPase-activating protein 1 measurement QTL GWAS1268771 (human)2e-23rac GTPase-activating protein 1 measurement155049279350492794Human
597182683GWAS1278757_Hubiquitin carboxyl-terminal hydrolase 25 measurement QTL GWAS1278757 (human)2e-17ubiquitin carboxyl-terminal hydrolase 25 measurement155049281950492820Human
597182684GWAS1278758_Hubiquitin carboxyl-terminal hydrolase 8 measurement QTL GWAS1278758 (human)2e-16ubiquitin carboxyl-terminal hydrolase 8 measurement155043893450438935Human
597035218GWAS1131292_Hheel bone mineral density QTL GWAS1131292 (human)1e-17heel bone mineral densitybone mineral density (CMO:0001226)155046871350468714Human
597358428GWAS1454502_Hgranulocyte percentage of myeloid white cells QTL GWAS1454502 (human)8e-09granulocyte quantity (VT:0000334)155050579450505795Human
597208150GWAS1304224_Helectrocardiography QTL GWAS1304224 (human)2e-08electrocardiography155048336550483366Human
597208151GWAS1304225_Helectrocardiography QTL GWAS1304225 (human)3e-08electrocardiography155048336550483366Human
597183050GWAS1279124_HE3 ISG15--protein ligase HERC5 measurement QTL GWAS1279124 (human)8e-14E3 ISG15--protein ligase HERC5 measurement155049279350492794Human
597178314GWAS1274388_Hprotein measurement QTL GWAS1274388 (human)4e-14protein measurement155049281950492820Human
597060549GWAS1156623_HFEV/FVC ratio QTL GWAS1156623 (human)3e-13FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)155042636450426365Human
597026118GWAS1122192_Hmean arterial pressure QTL GWAS1122192 (human)3e-09mean arterial pressuremean arterial blood pressure (CMO:0000009)155045322650453227Human
597178315GWAS1274389_Hprotein measurement QTL GWAS1274389 (human)5e-18protein measurement155049279350492794Human
597254466GWAS1350540_Haspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1350540 (human)3e-14aspartate aminotransferase to alanine aminotransferase ratioserum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)155049281950492820Human
597602627GWAS1659487_Hmonocyte count QTL GWAS1659487 (human)9e-12monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)155047805750478058Human
597442754GWAS1538828_HAlzheimer disease, educational attainment QTL GWAS1538828 (human)0.000004Alzheimer disease, educational attainment155050789850507899Human
597090889GWAS1186963_Hmean reticulocyte volume QTL GWAS1186963 (human)7e-10reticulocyte morphology trait (VT:0002424)mean corpuscular volume (CMO:0000038)155044209950442100Human
597177337GWAS1273411_Hprotein measurement QTL GWAS1273411 (human)4e-20protein measurement155049281950492820Human
597255163GWAS1351237_Htotal cholesterol measurement QTL GWAS1351237 (human)1e-11total cholesterol measurementblood total cholesterol level (CMO:0000051)155049281950492820Human
1559411SCL107_HSerum cholesterol level QTL 107 (human)3.88Lipid leveltriglyceride152654355252543552Human
597170301GWAS1266375_Hprotein measurement QTL GWAS1266375 (human)8e-35protein measurement155049281950492820Human
597183216GWAS1279290_HMHC class I polypeptide-related sequence A measurement QTL GWAS1279290 (human)1e-66MHC class I polypeptide-related sequence A measurement155049279350492794Human
597183217GWAS1279291_HMHC class I polypeptide-related sequence A measurement QTL GWAS1279291 (human)2e-19MHC class I polypeptide-related sequence A measurement155049281950492820Human
597183218GWAS1279292_HMHC class I polypeptide-related sequence B measurement QTL GWAS1279292 (human)2e-79MHC class I polypeptide-related sequence B measurement155049281950492820Human
597516535GWAS1612609_HParkinson disease QTL GWAS1612609 (human)3e-08Parkinson disease155049521250495213Human
597245044GWAS1341118_Hlow density lipoprotein cholesterol measurement QTL GWAS1341118 (human)8e-18low density lipoprotein cholesterol measurementblood aspartate aminotransferase activity level (CMO:0000580)155049279350492794Human
597177448GWAS1273522_Hcomplement C4 measurement QTL GWAS1273522 (human)5e-40complement C4 measurement155049281950492820Human
597110246GWAS1206320_Hankylosing spondylitis QTL GWAS1206320 (human)1e-13ankylosing spondylitis155049281950492820Human
597112800GWAS1208874_Hosteoarthritis, knee QTL GWAS1208874 (human)2e-08osteoarthritis, knee155043893450438935Human
597254382GWAS1350456_Hapolipoprotein B measurement QTL GWAS1350456 (human)2e-15apolipoprotein B measurementblood apoliprotein B level (CMO:0000522)155049279350492794Human
597090797GWAS1186871_Hmonocyte percentage of leukocytes QTL GWAS1186871 (human)3e-14monocyte quantity (VT:0000223)blood monocyte count to total leukocyte count ratio (CMO:0000374)155048159050481591Human
597492320GWAS1588394_Hosteoarthritis QTL GWAS1588394 (human)0.0000001osteoarthritis155049535950495360Human

Markers in Region
D15S1200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371550,791,702 - 50,791,951UniSTSGRCh37
Build 361548,578,994 - 48,579,243RGDNCBI36
Celera1527,684,281 - 27,684,529RGD
Cytogenetic Map15q21.2UniSTS
HuRef1527,622,109 - 27,622,357UniSTS
GeneMap99-GB4 RH Map15177.97UniSTS
Whitehead-RH Map15141.9UniSTS
Whitehead-YAC Contig Map15 UniSTS
NCBI RH Map15218.3UniSTS
D15S712E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371550,791,747 - 50,791,845UniSTSGRCh37
Build 361548,579,039 - 48,579,137RGDNCBI36
Celera1527,684,326 - 27,684,423RGD
Cytogenetic Map15q21.2UniSTS
HuRef1527,622,154 - 27,622,251UniSTS
GeneMap99-GB4 RH Map15177.42UniSTS
RH104427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371550,786,316 - 50,786,469UniSTSGRCh37
GRCh37631,245,679 - 31,245,829UniSTSGRCh37
Build 36631,353,658 - 31,353,808RGDNCBI36
Celera632,844,349 - 32,844,499RGD
Celera1527,678,896 - 27,679,049UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6p21.33UniSTS
HuRef1527,616,782 - 27,616,935UniSTS
HuRef631,046,299 - 31,046,449UniSTS
GeneMap99-GB4 RH Map15178.53UniSTS
G07414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371550,791,499 - 50,791,839UniSTSGRCh37
GRCh37631,246,745 - 31,247,082UniSTSGRCh37
Build 36631,354,724 - 31,355,061RGDNCBI36
Celera1527,684,079 - 27,684,417UniSTS
Celera632,845,415 - 32,845,752RGD
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q21.2UniSTS
HuRef1527,621,907 - 27,622,245UniSTS
HuRef631,047,365 - 31,047,695UniSTS
RH25289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37631,245,553 - 31,245,676UniSTSGRCh37
GRCh371550,785,035 - 50,786,313UniSTSGRCh37
Build 36631,353,532 - 31,353,655RGDNCBI36
Celera1527,677,615 - 27,678,893UniSTS
Celera632,844,223 - 32,844,346RGD
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map15q21.2UniSTS
HuRef631,046,173 - 31,046,296UniSTS
HuRef1527,615,501 - 27,616,779UniSTS
GeneMap99-GB4 RH Map6117.96UniSTS
NCBI RH Map6428.4UniSTS
RH45725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371550,793,098 - 50,793,247UniSTSGRCh37
Build 361548,580,390 - 48,580,539RGDNCBI36
Celera1527,685,676 - 27,685,825RGD
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q21.2UniSTS
HuRef1527,623,504 - 27,623,653UniSTS
GeneMap99-GB4 RH Map15179.43UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_047101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001283049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022721 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA399951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA399952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA773713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC012170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI276208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC051345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC092443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM751645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA312140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D29956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA112964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP328166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000307179   ⟹   ENSP00000302239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,424,405 - 50,514,421 (+)Ensembl
Ensembl Acc Id: ENST00000396444   ⟹   ENSP00000379721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,424,382 - 50,514,419 (+)Ensembl
Ensembl Acc Id: ENST00000419830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,493,185 - 50,499,695 (+)Ensembl
Ensembl Acc Id: ENST00000425032   ⟹   ENSP00000412682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,424,387 - 50,499,415 (+)Ensembl
Ensembl Acc Id: ENST00000558091   ⟹   ENSP00000454059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,426,894 - 50,459,070 (+)Ensembl
Ensembl Acc Id: ENST00000558892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,424,399 - 50,444,616 (+)Ensembl
Ensembl Acc Id: ENST00000559242   ⟹   ENSP00000453320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,439,026 - 50,462,310 (+)Ensembl
Ensembl Acc Id: ENST00000559329   ⟹   ENSP00000454003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,424,405 - 50,481,702 (+)Ensembl
Ensembl Acc Id: ENST00000560297   ⟹   ENSP00000453206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,424,380 - 50,449,440 (+)Ensembl
Ensembl Acc Id: ENST00000560379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,498,497 - 50,499,407 (+)Ensembl
Ensembl Acc Id: ENST00000560527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,458,503 - 50,471,735 (+)Ensembl
Ensembl Acc Id: ENST00000560730   ⟹   ENSP00000452950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,424,415 - 50,481,705 (+)Ensembl
Ensembl Acc Id: ENST00000560885
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,424,405 - 50,462,305 (+)Ensembl
Ensembl Acc Id: ENST00000560954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,424,382 - 50,459,134 (+)Ensembl
Ensembl Acc Id: ENST00000560982   ⟹   ENSP00000453427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,424,448 - 50,441,463 (+)Ensembl
Ensembl Acc Id: ENST00000561206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,489,494 - 50,490,430 (+)Ensembl
Ensembl Acc Id: ENST00000561211   ⟹   ENSP00000457345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,424,494 - 50,465,173 (+)Ensembl
Ensembl Acc Id: ENST00000561330   ⟹   ENSP00000453460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,439,043 - 50,481,705 (+)Ensembl
Ensembl Acc Id: ENST00000625664   ⟹   ENSP00000485810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1550,424,427 - 50,481,682 (+)Ensembl
RefSeq Acc Id: NM_001128610   ⟹   NP_001122082
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381550,424,405 - 50,514,421 (+)NCBI
GRCh371550,716,579 - 50,793,280 (+)NCBI
HuRef1527,547,367 - 27,623,686 (+)NCBI
CHM1_11550,834,666 - 50,911,289 (+)NCBI
T2T-CHM13v2.01548,232,513 - 48,322,500 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001283049   ⟹   NP_001269978
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381550,424,405 - 50,514,421 (+)NCBI
HuRef1527,547,367 - 27,623,686 (+)NCBI
CHM1_11550,834,666 - 50,911,289 (+)NCBI
T2T-CHM13v2.01548,232,513 - 48,322,500 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005154   ⟹   NP_005145
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381550,424,405 - 50,514,421 (+)NCBI
GRCh371550,716,579 - 50,793,280 (+)NCBI
Build 361548,503,871 - 48,579,265 (+)NCBI Archive
HuRef1527,547,367 - 27,623,686 (+)NCBI
CHM1_11550,834,666 - 50,911,289 (+)NCBI
T2T-CHM13v2.01548,232,513 - 48,322,500 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001122082   ⟸   NM_001128610
- Peptide Label: isoform a
- UniProtKB: Q86VA0 (UniProtKB/Swiss-Prot),   Q7Z3U2 (UniProtKB/Swiss-Prot),   Q2TB31 (UniProtKB/Swiss-Prot),   B4DKA8 (UniProtKB/Swiss-Prot),   Q8IWI7 (UniProtKB/Swiss-Prot),   P40818 (UniProtKB/Swiss-Prot),   A8K8N5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_005145   ⟸   NM_005154
- Peptide Label: isoform a
- UniProtKB: Q86VA0 (UniProtKB/Swiss-Prot),   Q7Z3U2 (UniProtKB/Swiss-Prot),   Q2TB31 (UniProtKB/Swiss-Prot),   B4DKA8 (UniProtKB/Swiss-Prot),   Q8IWI7 (UniProtKB/Swiss-Prot),   P40818 (UniProtKB/Swiss-Prot),   A8K8N5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269978   ⟸   NM_001283049
- Peptide Label: isoform b
- UniProtKB: A8K8N5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000412682   ⟸   ENST00000425032
Ensembl Acc Id: ENSP00000302239   ⟸   ENST00000307179
Ensembl Acc Id: ENSP00000454059   ⟸   ENST00000558091
Ensembl Acc Id: ENSP00000454003   ⟸   ENST00000559329
Ensembl Acc Id: ENSP00000453320   ⟸   ENST00000559242
Ensembl Acc Id: ENSP00000485810   ⟸   ENST00000625664
Ensembl Acc Id: ENSP00000453206   ⟸   ENST00000560297
Ensembl Acc Id: ENSP00000453427   ⟸   ENST00000560982
Ensembl Acc Id: ENSP00000452950   ⟸   ENST00000560730
Ensembl Acc Id: ENSP00000453460   ⟸   ENST00000561330
Ensembl Acc Id: ENSP00000457345   ⟸   ENST00000561211
Ensembl Acc Id: ENSP00000379721   ⟸   ENST00000396444
Protein Domains
MIT   Rhodanese   USP   USP8 dimerisation

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P40818-F1-model_v2 AlphaFold P40818 1-1118 view protein structure

Promoters
RGD ID:6792713
Promoter ID:HG_KWN:21353
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:ENST00000396444,   NM_001128611,   NM_005154,   UC001ZYK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361548,503,036 - 48,503,972 (+)MPROMDB
RGD ID:7229469
Promoter ID:EPDNEW_H20480
Type:initiation region
Name:USP8_1
Description:ubiquitin specific peptidase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381550,424,405 - 50,424,465EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12631 AgrOrtholog
COSMIC USP8 COSMIC
Ensembl Genes ENSG00000138592 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000307179 ENTREZGENE
  ENST00000307179.9 UniProtKB/Swiss-Prot
  ENST00000396444 ENTREZGENE
  ENST00000396444.7 UniProtKB/Swiss-Prot
  ENST00000425032 ENTREZGENE
  ENST00000425032.7 UniProtKB/Swiss-Prot
  ENST00000558091.5 UniProtKB/TrEMBL
  ENST00000559242.5 UniProtKB/TrEMBL
  ENST00000559329.5 UniProtKB/TrEMBL
  ENST00000560297.5 UniProtKB/TrEMBL
  ENST00000560730.5 UniProtKB/TrEMBL
  ENST00000560982.5 UniProtKB/TrEMBL
  ENST00000561211.5 UniProtKB/TrEMBL
  ENST00000561330.1 UniProtKB/TrEMBL
  ENST00000625664.2 UniProtKB/TrEMBL
Gene3D-CATH 3.40.250.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cysteine proteinases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phosphotransferase system, lactose/cellobiose-type IIA subunit UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138592 GTEx
HGNC ID HGNC:12631 ENTREZGENE
Human Proteome Map USP8 Human Proteome Map
InterPro Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C19_UCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhodanese-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhodanese-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ub_carboxyl-term_hydrolase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP8_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_USP8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9101 UniProtKB/Swiss-Prot
NCBI Gene 9101 ENTREZGENE
OMIM 603158 OMIM
PANTHER UBIQUITIN CARBOXYL-TERMINAL HYDROLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN CARBOXYL-TERMINAL HYDROLASE 8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Rhodanese UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP8_dimer UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WW_USP8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37256 PharmGKB
PROSITE RHODANESE_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52821 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP8 N-terminal domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A075B720_HUMAN UniProtKB/TrEMBL
  A8K8N5 ENTREZGENE, UniProtKB/TrEMBL
  B4DKA8 ENTREZGENE
  H0YKV1_HUMAN UniProtKB/TrEMBL
  H0YLH2_HUMAN UniProtKB/TrEMBL
  H0YLS3_HUMAN UniProtKB/TrEMBL
  H0YM17_HUMAN UniProtKB/TrEMBL
  H0YM47_HUMAN UniProtKB/TrEMBL
  H0YNL5_HUMAN UniProtKB/TrEMBL
  P40818 ENTREZGENE
  Q05CD9_HUMAN UniProtKB/TrEMBL
  Q05DF5_HUMAN UniProtKB/TrEMBL
  Q2TB31 ENTREZGENE
  Q7Z3U2 ENTREZGENE
  Q86VA0 ENTREZGENE
  Q8IWI7 ENTREZGENE
  UBP8_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4DKA8 UniProtKB/Swiss-Prot
  Q2TB31 UniProtKB/Swiss-Prot
  Q7Z3U2 UniProtKB/Swiss-Prot
  Q86VA0 UniProtKB/Swiss-Prot
  Q8IWI7 UniProtKB/Swiss-Prot