USP7 (ubiquitin specific peptidase 7) - Rat Genome Database

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Gene: USP7 (ubiquitin specific peptidase 7) Homo sapiens
Analyze
Symbol: USP7
Name: ubiquitin specific peptidase 7
RGD ID: 1315800
HGNC Page HGNC:12630
Description: Enables p53 binding activity and peptidase activity. Involved in several processes, including DNA repair; negative regulation of TORC1 signaling; and negative regulation of cellular biosynthetic process. Acts upstream of or within monoubiquitinated protein deubiquitination. Located in cytosol and nucleus. Part of protein-containing complex. Is active in PML body.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: C16DELp13.2; Chromosome 16p13.2 deletion syndrome; DEL16P13.2; deubiquitinating enzyme 7; HAFOUS; HAUSP; Herpes virus-associated ubiquitin-specific protease; herpesvirus-associated ubiquitin-specific protease; TEF1; ubiquitin carboxyl-terminal hydrolase 7; ubiquitin specific peptidase 7 (herpes virus-associated); ubiquitin specific protease 7 (herpes virus-associated); ubiquitin thioesterase 7; ubiquitin-specific-processing protease 7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC024587.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38168,892,097 - 8,963,906 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl168,892,097 - 8,975,328 (-)EnsemblGRCh38hg38GRCh38
GRCh37168,985,954 - 9,057,763 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36168,893,452 - 8,964,842 (-)NCBINCBI36Build 36hg18NCBI36
Build 34168,894,850 - 8,964,842NCBI
Celera169,152,724 - 9,223,882 (-)NCBICelera
Cytogenetic Map16p13.2NCBI
HuRef168,907,081 - 8,945,418 (-)NCBIHuRef
CHM1_1168,985,936 - 9,057,340 (-)NCBICHM1_1
T2T-CHM13v2.0168,924,836 - 8,996,578 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-tribromophenol  (EXP)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nitrophenol  (ISO)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (ISO)
ABT-737  (EXP)
aflatoxin B1  (EXP,ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
butanal  (EXP)
cadmium dichloride  (ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
chloroprene  (ISO)
chloroquine  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cocaine  (ISO)
Cuprizon  (EXP)
cycloheximide  (EXP)
cytarabine  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dimethylarsinic acid  (EXP)
doxorubicin  (EXP,ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenofibrate  (ISO)
fenthion  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
genistein  (ISO)
gentamycin  (ISO)
haloperidol  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
ivermectin  (EXP)
menadione  (EXP)
methidathion  (ISO)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
nefazodone  (ISO)
oxaliplatin  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenethyl isothiocyanate  (ISO)
phenobarbital  (ISO)
phlorizin  (ISO)
picoxystrobin  (EXP)
pinosylvin  (EXP)
pyrimidifen  (EXP)
raloxifene  (ISO)
resveratrol  (EXP,ISO)
rotenone  (EXP)
sirolimus  (EXP)
sirtinol  (ISO)
sodium arsenite  (EXP)
sunitinib  (EXP)
testosterone  (EXP)
topotecan  (ISO)
trans-pinosylvin  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
wortmannin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromosome  (IEA)
cytoplasm  (IEA)
cytosol  (IBA,IDA,IEA,TAS)
nuclear body  (HDA)
nucleoplasm  (TAS)
nucleus  (HDA,IBA,IDA,IEA,TAS)
PML body  (IDA,IEA)
protein-containing complex  (IDA)
XY body  (ISO)

Molecular Function

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

Human Phenotype
Abnormal facial shape  (IAGP)
Abnormal temper tantrums  (IAGP)
Absent speech  (IAGP)
Aggressive behavior  (IAGP)
Apraxia  (IAGP)
Asthma  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Brachycephaly  (IAGP)
Brain imaging abnormality  (IAGP)
Central sleep apnea  (IAGP)
Cerebral white matter atrophy  (IAGP)
Chronic constipation  (IAGP)
Chronic diarrhea  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Cryptorchidism  (IAGP)
Decreased fetal movement  (IAGP)
Delayed cranial suture closure  (IAGP)
Delayed speech and language development  (IAGP)
Dilated third ventricle  (IAGP)
Esotropia  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flexion contracture  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hallux valgus  (IAGP)
Hearing impairment  (IAGP)
Hip dysplasia  (IAGP)
Hydrocephalus  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Impulsivity  (IAGP)
Intellectual disability  (IAGP)
Kyphosis  (IAGP)
Large fontanelles  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Microcephaly  (IAGP)
Micropenis  (IAGP)
Myopia  (IAGP)
Neonatal hypotonia  (IAGP)
Nystagmus  (IAGP)
Obsessive-compulsive trait  (IAGP)
Overweight  (IAGP)
Periventricular leukomalacia  (IAGP)
Perseverative thought  (IAGP)
Plagiocephaly  (IAGP)
Poor suck  (IAGP)
Premature adrenarche  (IAGP)
Relative macrocephaly  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short foot  (IAGP)
Short stature  (IAGP)
Skin-picking  (IAGP)
Sleep abnormality  (IAGP)
Sleep apnea  (IAGP)
Small hand  (IAGP)
Speech apraxia  (IAGP)
Strabismus  (IAGP)
Trigonocephaly  (IAGP)
Ventriculomegaly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Modes of p53 regulation. Kruse JP and Gu W, Cell. 2009 May 15;137(4):609-22. doi: 10.1016/j.cell.2009.04.050.
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI 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
Additional References at PubMed
PMID:8889548   PMID:9034339   PMID:9130697   PMID:9827704   PMID:9847347   PMID:9925944   PMID:11279055   PMID:11923872   PMID:12093161   PMID:12507430   PMID:12783858   PMID:12838346  
PMID:14506283   PMID:14676191   PMID:15053880   PMID:15058298   PMID:15247261   PMID:15302935   PMID:15494000   PMID:15749019   PMID:15808506   PMID:15916963   PMID:15942648   PMID:16111684  
PMID:16160161   PMID:16402859   PMID:16474402   PMID:16713569   PMID:16791210   PMID:16845383   PMID:16943424   PMID:16964248   PMID:17268548   PMID:17353931   PMID:17380154   PMID:17442268  
PMID:17525743   PMID:17651432   PMID:17927229   PMID:17936559   PMID:18330356   PMID:18410486   PMID:18418047   PMID:18566590   PMID:18590780   PMID:18716620   PMID:18729074   PMID:18833293  
PMID:18952891   PMID:19124652   PMID:19182791   PMID:19193609   PMID:19470478   PMID:19615732   PMID:19640993   PMID:19834552   PMID:20096447   PMID:20153724   PMID:20379614   PMID:20562859  
PMID:20601937   PMID:20622874   PMID:20697359   PMID:20713061   PMID:20719947   PMID:20800574   PMID:20816748   PMID:20855462   PMID:20874444   PMID:20885946   PMID:20930542   PMID:21045206  
PMID:21081666   PMID:21145461   PMID:21170034   PMID:21258371   PMID:21268065   PMID:21305000   PMID:21319273   PMID:21468692   PMID:21468693   PMID:21480003   PMID:21490432   PMID:21549307  
PMID:21731648   PMID:21745816   PMID:21845734   PMID:21873635   PMID:21949651   PMID:21981925   PMID:21988832   PMID:22032989   PMID:22056774   PMID:22072716   PMID:22072767   PMID:22084066  
PMID:22118674   PMID:22195557   PMID:22325352   PMID:22361354   PMID:22411829   PMID:22438555   PMID:22466611   PMID:22466612   PMID:22514345   PMID:22586326   PMID:22626734   PMID:22634009  
PMID:22653443   PMID:22750444   PMID:22810585   PMID:22810586   PMID:22863774   PMID:22863883   PMID:22875967   PMID:22901115   PMID:22902626   PMID:22939629   PMID:22993145   PMID:23022380  
PMID:23089923   PMID:23105109   PMID:23178491   PMID:23183427   PMID:23208507   PMID:23267096   PMID:23287719   PMID:23297342   PMID:23348568   PMID:23382381   PMID:23388826   PMID:23403292  
PMID:23452853   PMID:23483195   PMID:23524849   PMID:23536002   PMID:23602568   PMID:23603909   PMID:23667531   PMID:23751493   PMID:23752268   PMID:23760561   PMID:23775119   PMID:23858473  
PMID:24013172   PMID:24063548   PMID:24072712   PMID:24144979   PMID:24169447   PMID:24190967   PMID:24270891   PMID:24317448   PMID:24332808   PMID:24457600   PMID:24462112   PMID:24598911  
PMID:24811749   PMID:24823443   PMID:24832601   PMID:24981860   PMID:25003721   PMID:25071155   PMID:25082234   PMID:25086746   PMID:25118285   PMID:25147182   PMID:25172512   PMID:25184681  
PMID:25266658   PMID:25283148   PMID:25324306   PMID:25358258   PMID:25435364   PMID:25483066   PMID:25519684   PMID:25544563   PMID:25605328   PMID:25659154   PMID:25665578   PMID:25693804  
PMID:25694600   PMID:25695151   PMID:25695607   PMID:25756610   PMID:25836587   PMID:25865756   PMID:25885523   PMID:25894431   PMID:25921289   PMID:25925205   PMID:25944111   PMID:25960197  
PMID:25961918   PMID:26030138   PMID:26046769   PMID:26120032   PMID:26129839   PMID:26175158   PMID:26186194   PMID:26224631   PMID:26235645   PMID:26238070   PMID:26280018   PMID:26280536  
PMID:26296656   PMID:26299963   PMID:26344197   PMID:26365382   PMID:26460617   PMID:26485645   PMID:26496610   PMID:26507658   PMID:26508657   PMID:26596467   PMID:26673319   PMID:26678539  
PMID:26687479   PMID:26768359   PMID:26786098   PMID:26831064   PMID:26950370   PMID:26971997   PMID:26972000   PMID:26979993   PMID:27114453   PMID:27123980   PMID:27129218   PMID:27129234  
PMID:27183383   PMID:27183903   PMID:27248496   PMID:27256865   PMID:27302477   PMID:27444016   PMID:27452404   PMID:27462463   PMID:27501351   PMID:27590858   PMID:27618649   PMID:27632941  
PMID:27634302   PMID:27684187   PMID:27705803   PMID:27800609   PMID:27880917   PMID:27934968   PMID:28067227   PMID:28073915   PMID:28077445   PMID:28126338   PMID:28137592   PMID:28196907  
PMID:28242625   PMID:28276505   PMID:28280111   PMID:28288134   PMID:28325877   PMID:28406480   PMID:28418900   PMID:28495793   PMID:28514442   PMID:28515276   PMID:28655758   PMID:28656291  
PMID:28803780   PMID:28807012   PMID:28846114   PMID:28902428   PMID:28973533   PMID:29045385   PMID:29045831   PMID:29056420   PMID:29089422   PMID:29117568   PMID:29117863   PMID:29119051  
PMID:29229926   PMID:29236775   PMID:29249604   PMID:29295817   PMID:29323787   PMID:29343584   PMID:29357390   PMID:29416040   PMID:29467282   PMID:29490077   PMID:29507755   PMID:29509190  
PMID:29568061   PMID:29574466   PMID:29576527   PMID:29581288   PMID:29581427   PMID:29616860   PMID:29688809   PMID:29743367   PMID:29748603   PMID:29781103   PMID:29795372   PMID:29844126  
PMID:29863498   PMID:29898993   PMID:29961565   PMID:29979702   PMID:30024656   PMID:30067985   PMID:30179224   PMID:30182448   PMID:30206189   PMID:30224337   PMID:30344098   PMID:30367141  
PMID:30370059   PMID:30415952   PMID:30455355   PMID:30471916   PMID:30542736   PMID:30575818   PMID:30647135   PMID:30651545   PMID:30679821   PMID:30773093   PMID:30786932   PMID:30804394  
PMID:30804502   PMID:30833792   PMID:30834688   PMID:30872372   PMID:30890647   PMID:30891497   PMID:30894746   PMID:30905413   PMID:30917315   PMID:30938820   PMID:30940648   PMID:30948266  
PMID:31043422   PMID:31067491   PMID:31091453   PMID:31130994   PMID:31173446   PMID:31278054   PMID:31353912   PMID:31492752   PMID:31502386   PMID:31518603   PMID:31519875   PMID:31527615  
PMID:31527801   PMID:31586073   PMID:31597768   PMID:31601781   PMID:31620119   PMID:31647545   PMID:31666375   PMID:31685992   PMID:31691271   PMID:31730000   PMID:31748695   PMID:31753913  
PMID:31775559   PMID:31796584   PMID:31801860   PMID:31822558   PMID:31833203   PMID:31866294   PMID:31911859   PMID:31921057   PMID:31950832   PMID:31955515   PMID:31980649   PMID:31995728  
PMID:32064169   PMID:32064756   PMID:32088087   PMID:32129710   PMID:32130729   PMID:32176739   PMID:32203420   PMID:32239614   PMID:32296183   PMID:32355176   PMID:32416067   PMID:32444465  
PMID:32447346   PMID:32453339   PMID:32510829   PMID:32545337   PMID:32545446   PMID:32587091   PMID:32601462   PMID:32644293   PMID:32694731   PMID:32707033   PMID:32711345   PMID:32780723  
PMID:32786267   PMID:32802178   PMID:32802195   PMID:32807901   PMID:32860838   PMID:32884836   PMID:32929379   PMID:32966862   PMID:33006472   PMID:33022573   PMID:33040080   PMID:33060197  
PMID:33095475   PMID:33106424   PMID:33137092   PMID:33141564   PMID:33157193   PMID:33207738   PMID:33239621   PMID:33279577   PMID:33306668   PMID:33417871   PMID:33460997   PMID:33487632  
PMID:33544460   PMID:33567268   PMID:33567341   PMID:33640491   PMID:33664368   PMID:33669244   PMID:33722704   PMID:33729478   PMID:33742119   PMID:33742136   PMID:33768140   PMID:33777676  
PMID:33780361   PMID:33849069   PMID:33856059   PMID:33895173   PMID:33916271   PMID:33933455   PMID:33961781   PMID:33963175   PMID:34026424   PMID:34079125   PMID:34094715   PMID:34129829  
PMID:34237211   PMID:34265304   PMID:34315543   PMID:34331453   PMID:34373451   PMID:34383978   PMID:34462429   PMID:34500587   PMID:34518535   PMID:34551306   PMID:34553755   PMID:34556124  
PMID:34558642   PMID:34580281   PMID:34585037   PMID:34591612   PMID:34619150   PMID:34642328   PMID:34644576   PMID:34709727   PMID:34732716   PMID:34740372   PMID:34753486   PMID:34795231  
PMID:34799561   PMID:34854226   PMID:34921745   PMID:34964862   PMID:34983926   PMID:35013556   PMID:35037416   PMID:35044719   PMID:35064359   PMID:35114313   PMID:35140242   PMID:35163710  
PMID:35198878   PMID:35216969   PMID:35253629   PMID:35271311   PMID:35296779   PMID:35322810   PMID:35391932   PMID:35411950   PMID:35414773   PMID:35414777   PMID:35439318   PMID:35446349  
PMID:35509820   PMID:35523402   PMID:35538032   PMID:35563538   PMID:35593311   PMID:35636624   PMID:35732625   PMID:35748872   PMID:35753056   PMID:35770730   PMID:35776542   PMID:35785414  
PMID:35813202   PMID:35821281   PMID:35831314   PMID:35852892   PMID:35895752   PMID:35906200   PMID:35914814   PMID:35926709   PMID:35931679   PMID:35944360   PMID:35947662   PMID:35948545  
PMID:35955807   PMID:35980206   PMID:36089195   PMID:36114006   PMID:36114200   PMID:36152057   PMID:36215168   PMID:36243803   PMID:36261009   PMID:36264362   PMID:36273042   PMID:36282215  
PMID:36291159   PMID:36342772   PMID:36379255   PMID:36398662   PMID:36424410   PMID:36484700   PMID:36490346   PMID:36526897   PMID:36574265   PMID:36593255   PMID:36597993   PMID:36602428  
PMID:36610398   PMID:36681316   PMID:36708875   PMID:36734974   PMID:36736316   PMID:36759621   PMID:36774506   PMID:36861887   PMID:36878903   PMID:36897111   PMID:36912080   PMID:37006049  
PMID:37062218   PMID:37117185   PMID:37127084   PMID:37373211   PMID:37536630   PMID:37762082   PMID:37775071   PMID:37805766   PMID:37827155   PMID:37867415   PMID:37874827   PMID:37890652  
PMID:38097136   PMID:38113892   PMID:38126281   PMID:38254206   PMID:38279869   PMID:38280479   PMID:38287116   PMID:38340226  


Genomics

Comparative Map Data
USP7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38168,892,097 - 8,963,906 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl168,892,097 - 8,975,328 (-)EnsemblGRCh38hg38GRCh38
GRCh37168,985,954 - 9,057,763 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36168,893,452 - 8,964,842 (-)NCBINCBI36Build 36hg18NCBI36
Build 34168,894,850 - 8,964,842NCBI
Celera169,152,724 - 9,223,882 (-)NCBICelera
Cytogenetic Map16p13.2NCBI
HuRef168,907,081 - 8,945,418 (-)NCBIHuRef
CHM1_1168,985,936 - 9,057,340 (-)NCBICHM1_1
T2T-CHM13v2.0168,924,836 - 8,996,578 (-)NCBIT2T-CHM13v2.0
Usp7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39168,506,586 - 8,574,931 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl168,507,459 - 8,610,172 (-)EnsemblGRCm39 Ensembl
GRCm38168,688,722 - 8,757,067 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl168,689,595 - 8,792,308 (-)EnsemblGRCm38mm10GRCm38
MGSCv37168,688,815 - 8,738,435 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36168,606,101 - 8,653,606 (-)NCBIMGSCv36mm8
Celera169,334,440 - 9,362,384 (-)NCBICelera
Cytogenetic Map16A1NCBI
cM Map164.28NCBI
Usp7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8107,335,508 - 7,432,018 (+)NCBIGRCr8
mRatBN7.2106,880,684 - 6,925,355 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl106,828,795 - 6,925,355 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1011,588,325 - 11,631,578 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01011,084,682 - 11,128,048 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0106,735,783 - 6,779,154 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0106,930,462 - 7,019,910 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl106,975,244 - 7,018,930 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0105,752,834 - 5,822,229 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4106,917,612 - 6,963,452 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1106,917,611 - 6,963,451 (+)NCBI
Celera105,876,459 - 5,919,649 (+)NCBICelera
Cytogenetic Map10q12NCBI
Usp7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554429,315,225 - 9,356,393 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554429,316,022 - 9,355,751 (+)NCBIChiLan1.0ChiLan1.0
USP7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2189,431,901 - 9,501,001 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11613,210,502 - 13,278,888 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0167,825,332 - 7,895,095 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1169,065,366 - 9,106,406 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl169,065,858 - 9,106,146 (-)Ensemblpanpan1.1panPan2
USP7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1633,277,328 - 33,315,601 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl633,277,444 - 33,314,491 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha634,641,327 - 34,706,509 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0633,449,047 - 33,514,314 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl633,448,218 - 33,514,312 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1633,251,796 - 33,316,926 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0633,121,375 - 33,186,820 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0633,570,486 - 33,608,545 (+)NCBIUU_Cfam_GSD_1.0
Usp7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344109,848,236 - 109,882,862 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365307,694,379 - 7,724,684 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365307,693,681 - 7,724,215 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
USP7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl333,775,829 - 33,810,465 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1333,754,357 - 33,810,480 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2334,686,115 - 34,742,973 (-)NCBISscrofa10.2Sscrofa10.2susScr3
USP7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.158,470,137 - 8,540,736 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl58,469,230 - 8,540,770 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606821,677,314 - 21,749,766 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Usp7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248246,276,354 - 6,338,227 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248246,277,111 - 6,338,051 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in USP7
314 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003470.3(USP7):c.383+1G>C single nucleotide variant Macrocephaly [RCV000735280]|not provided [RCV003317354] Chr16:8923214 [GRCh38]
Chr16:9017071 [GRCh37]
Chr16:16p13.2		 pathogenic|uncertain significance
NM_003470.3(USP7):c.333C>G (p.His111Gln) single nucleotide variant Macrocephaly [RCV000735279] Chr16:8923265 [GRCh38]
Chr16:9017122 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.2(chr16:8767999-8939801)x1 copy number loss See cases [RCV000051149] Chr16:8767999..8939801 [GRCh38]
Chr16:8861856..9033658 [GRCh37]
Chr16:8769357..8941159 [NCBI36]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.2(chr16:8677203-9562709)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052399]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052399]|See cases [RCV000052399] Chr16:8677203..9562709 [GRCh38]
Chr16:8771060..9656566 [GRCh37]
Chr16:8678561..9564067 [NCBI36]
Chr16:16p13.2		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.2(chr16:8752152-8979353)x1 copy number loss See cases [RCV000051999] Chr16:8752152..8979353 [GRCh38]
Chr16:8846009..9073210 [GRCh37]
Chr16:8753510..8980711 [NCBI36]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.3-13.13(chr16:4536131-10852466)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053274]|See cases [RCV000053274] Chr16:4536131..10852466 [GRCh38]
Chr16:4586132..10946323 [GRCh37]
Chr16:4526133..10853824 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.2(chr16:8544481-8903449)x3 copy number gain See cases [RCV000053823] Chr16:8544481..8903449 [GRCh38]
Chr16:8594483..8997306 [GRCh37]
Chr16:8534484..8904807 [NCBI36]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.2(chr16:8752152-9094202)x3 copy number gain See cases [RCV000053824] Chr16:8752152..9094202 [GRCh38]
Chr16:8846009..9188059 [GRCh37]
Chr16:8753510..9095560 [NCBI36]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.2(chr16:8831989-9153027)x3 copy number gain See cases [RCV000053825] Chr16:8831989..9153027 [GRCh38]
Chr16:8925846..9246884 [GRCh37]
Chr16:8833347..9154385 [NCBI36]
Chr16:16p13.2		 uncertain significance
NM_001286457.1(USP7):c.2415+67G>T single nucleotide variant Lung cancer [RCV000100329] Chr16:8899537 [GRCh38]
Chr16:8993394 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.58C>A (p.Pro20Thr) single nucleotide variant not provided [RCV002292916] Chr16:8963228 [GRCh38]
Chr16:9057085 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1415A>G (p.Lys472Arg) single nucleotide variant not provided [RCV002287972] Chr16:8906439 [GRCh38]
Chr16:9000296 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 copy number gain See cases [RCV000133809] Chr16:4644892..29170820 [GRCh38]
Chr16:4694893..29182141 [GRCh37]
Chr16:4634894..29089642 [NCBI36]
Chr16:16p13.3-11.2		 pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13		 pathogenic
GRCh38/hg38 16p13.2(chr16:8241222-9770190)x3 copy number gain See cases [RCV000136549] Chr16:8241222..9770190 [GRCh38]
Chr16:8291224..9864047 [GRCh37]
Chr16:8231225..9771548 [NCBI36]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12		 pathogenic
GRCh38/hg38 16p13.2(chr16:8579327-9143148)x3 copy number gain See cases [RCV000139927] Chr16:8579327..9143148 [GRCh38]
Chr16:8629329..9237005 [GRCh37]
Chr16:8569330..9144506 [NCBI36]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.2(chr16:8767999-8939742)x3 copy number gain See cases [RCV000140292] Chr16:8767999..8939742 [GRCh38]
Chr16:8861856..9033599 [GRCh37]
Chr16:8769357..8941100 [NCBI36]
Chr16:16p13.2		 likely benign
GRCh38/hg38 16p13.2(chr16:8915212-9047581)x3 copy number gain See cases [RCV000140340] Chr16:8915212..9047581 [GRCh38]
Chr16:9009069..9141438 [GRCh37]
Chr16:8916570..9048939 [NCBI36]
Chr16:16p13.2		 likely benign
GRCh38/hg38 16p13.2(chr16:8708620-9180671)x1 copy number loss See cases [RCV000139648] Chr16:8708620..9180671 [GRCh38]
Chr16:8802477..9274528 [GRCh37]
Chr16:8709978..9182029 [NCBI36]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11		 pathogenic
NM_003470.3(USP7):c.1225_1243del (p.Phe409fs) deletion Intellectual disability [RCV001526598] Chr16:8908369..8908387 [GRCh38]
Chr16:9002226..9002244 [GRCh37]
Chr16:16p13.2		 likely pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2		 uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3		 uncertain significance
NM_003470.3(USP7):c.429C>G (p.Tyr143Ter) single nucleotide variant Hao-Fountain syndrome [RCV000210289] Chr16:8921250 [GRCh38]
Chr16:9015107 [GRCh37]
Chr16:16p13.2		 pathogenic|uncertain significance
GRCh37/hg19 16p13.2(chr16:8875248-9211047)x3 copy number gain See cases [RCV000240045] Chr16:8875248..9211047 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1940C>T (p.Thr647Ile) single nucleotide variant not provided [RCV001566093] Chr16:8902382 [GRCh38]
Chr16:8996239 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.913G>A (p.Asp305Asn) single nucleotide variant not provided [RCV003238968] Chr16:8915519 [GRCh38]
Chr16:9009376 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1754A>T (p.Asp585Val) single nucleotide variant Hao-Fountain syndrome [RCV003315087] Chr16:8903353 [GRCh38]
Chr16:8997210 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.2169_2170del (p.Arg723fs) microsatellite Hao-Fountain syndrome [RCV001175169]|USP7-related condition [RCV000625999] Chr16:8901028..8901029 [GRCh38]
Chr16:8994885..8994886 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.2(chr16:8899897-9050878)x3 copy number gain See cases [RCV000449269] Chr16:8899897..9050878 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8862211-9287762)x3 copy number gain See cases [RCV000449293] Chr16:8862211..9287762 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8943900-9266089)x3 copy number gain See cases [RCV000446282] Chr16:8943900..9266089 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.2(chr16:8969780-9211161)x1 copy number loss See cases [RCV000448736] Chr16:8969780..9211161 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8796001-9015505)x3 copy number gain See cases [RCV000447952] Chr16:8796001..9015505 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8850768-9216009)x3 copy number gain See cases [RCV000447730] Chr16:8850768..9216009 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8959375-9332816)x3 copy number gain See cases [RCV000448386] Chr16:8959375..9332816 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:9009295-9050180)x1 copy number loss See cases [RCV000510261] Chr16:9009295..9050180 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.675G>A (p.Met225Ile) single nucleotide variant Hao-Fountain syndrome [RCV001175170]|not provided [RCV000509482] Chr16:8919076 [GRCh38]
Chr16:9012933 [GRCh37]
Chr16:16p13.2		 pathogenic|not provided
GRCh37/hg19 16p13.2(chr16:8836233-9454914)x3 copy number gain See cases [RCV000511251] Chr16:8836233..9454914 [GRCh37]
Chr16:16p13.2		 uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_003470.3(USP7):c.3088A>C (p.Ile1030Leu) single nucleotide variant not provided [RCV003313392] Chr16:8894807 [GRCh38]
Chr16:8988664 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_003470.3(USP7):c.611+1G>A single nucleotide variant Inborn genetic diseases [RCV003286849]|not provided [RCV003699056] Chr16:8920358 [GRCh38]
Chr16:9014215 [GRCh37]
Chr16:16p13.2		 likely pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2		 pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2		 pathogenic
GRCh37/hg19 16p13.2(chr16:8797797-9558289)x3 copy number gain not provided [RCV000683757] Chr16:8797797..9558289 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.2(chr16:8828410-9028645)x3 copy number gain not provided [RCV000751570] Chr16:8828410..9028645 [GRCh37]
Chr16:16p13.2		 benign
GRCh37/hg19 16p13.2(chr16:8996788-9351258)x3 copy number gain not provided [RCV000751572] Chr16:8996788..9351258 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.2280A>G (p.Leu760=) single nucleotide variant not provided [RCV000914232] Chr16:8900559 [GRCh38]
Chr16:8994416 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2544C>T (p.Gly848=) single nucleotide variant not provided [RCV000928006] Chr16:8898627 [GRCh38]
Chr16:8992484 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1407A>G (p.Leu469=) single nucleotide variant not provided [RCV000901078] Chr16:8906447 [GRCh38]
Chr16:9000304 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_003470.3(USP7):c.2309+8C>T single nucleotide variant not provided [RCV000879406] Chr16:8900522 [GRCh38]
Chr16:8994379 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.1705-10A>G single nucleotide variant not provided [RCV000968921] Chr16:8903412 [GRCh38]
Chr16:8997269 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.2907G>A (p.Thr969=) single nucleotide variant not provided [RCV000950249] Chr16:8895654 [GRCh38]
Chr16:8989511 [GRCh37]
Chr16:16p13.2		 benign|likely benign
GRCh37/hg19 16p13.2(chr16:8839796-9728670) copy number loss not provided [RCV000767575] Chr16:8839796..9728670 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_003470.3(USP7):c.2631C>T (p.Tyr877=) single nucleotide variant not provided [RCV000983672] Chr16:8898540 [GRCh38]
Chr16:8992397 [GRCh37]
Chr16:16p13.2		 likely benign
GRCh37/hg19 16p13.2(chr16:8837843-9157022)x3 copy number gain not provided [RCV000848748] Chr16:8837843..9157022 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8941963-9166296)x3 copy number gain not provided [RCV000846878] Chr16:8941963..9166296 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8992656-9184247)x3 copy number gain not provided [RCV000848763] Chr16:8992656..9184247 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8800618-9302688)x3 copy number gain not provided [RCV000849972] Chr16:8800618..9302688 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8797797-8992828)x3 copy number gain not provided [RCV000847046] Chr16:8797797..8992828 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8759826-8992656)x3 copy number gain not provided [RCV001006760] Chr16:8759826..8992656 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1691A>C (p.Tyr564Ser) single nucleotide variant Hao-Fountain syndrome [RCV003315088] Chr16:8904448 [GRCh38]
Chr16:8998305 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.34G>A (p.Ala12Thr) single nucleotide variant not provided [RCV003315012] Chr16:8963252 [GRCh38]
Chr16:9057109 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8763909-9274576)x3 copy number gain not provided [RCV000847142] Chr16:8763909..9274576 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8913120-9199036)x3 copy number gain not provided [RCV000849121] Chr16:8913120..9199036 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8690029-9479483)x4 copy number gain not provided [RCV000847479] Chr16:8690029..9479483 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3202+1G>T single nucleotide variant Hao-Fountain syndrome [RCV001175171] Chr16:8894549 [GRCh38]
Chr16:8988406 [GRCh37]
Chr16:16p13.2		 pathogenic
NC_000016.10:g.(?_8735720)_(10180431_?)dup duplication Gamma-aminobutyric acid transaminase deficiency [RCV001031940] Chr16:8829577..10274288 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8899460-9205868)x3 copy number gain not provided [RCV000847546] Chr16:8899460..9205868 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8884484-8992578)x3 copy number gain not provided [RCV000845949] Chr16:8884484..8992578 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8913113-9250159)x3 copy number gain not provided [RCV000845677] Chr16:8913113..9250159 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.67A>G (p.Met23Val) single nucleotide variant not provided [RCV003312330] Chr16:8963219 [GRCh38]
Chr16:9057076 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1728T>A (p.Cys576Ter) single nucleotide variant Hao-Fountain syndrome [RCV001175168] Chr16:8903379 [GRCh38]
Chr16:8997236 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_003470.3(USP7):c.7C>T (p.His3Tyr) single nucleotide variant Inborn genetic diseases [RCV003241906]|not provided [RCV003542477] Chr16:8963279 [GRCh38]
Chr16:9057136 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.744G>A (p.Glu248=) single nucleotide variant USP7-related condition [RCV003910768]|not provided [RCV000902212] Chr16:8917133 [GRCh38]
Chr16:9010990 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2641-13_2641-10del microsatellite not provided [RCV000913592] Chr16:8898447..8898450 [GRCh38]
Chr16:8992304..8992307 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.185-5dup duplication not provided [RCV000890924] Chr16:8923417..8923418 [GRCh38]
Chr16:9017274..9017275 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.715C>T (p.Arg239Ter) single nucleotide variant not provided [RCV000986176] Chr16:8919036 [GRCh38]
Chr16:9012893 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_003470.3(USP7):c.2209-4G>A single nucleotide variant not provided [RCV000912481] Chr16:8900634 [GRCh38]
Chr16:8994491 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.3202+20del deletion not provided [RCV001689405] Chr16:8894530 [GRCh38]
Chr16:8988387 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.1522C>T (p.Arg508Ter) single nucleotide variant not provided [RCV001091965] Chr16:8905238 [GRCh38]
Chr16:8999095 [GRCh37]
Chr16:16p13.2		 pathogenic
GRCh37/hg19 16p13.2(chr16:8795855-9015505)x3 copy number gain not provided [RCV001006762] Chr16:8795855..9015505 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8943900-9206744)x3 copy number gain not provided [RCV001006763] Chr16:8943900..9206744 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3091C>G (p.Gln1031Glu) single nucleotide variant USP7-related neurodevelopmental disorder [RCV001095726]|not provided [RCV002462328] Chr16:8894804 [GRCh38]
Chr16:8988661 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.158A>G (p.Asn53Ser) single nucleotide variant USP7-related neurodevelopmental disorder [RCV001249770] Chr16:8930319 [GRCh38]
Chr16:9024176 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) copy number gain Microcephaly [RCV001252948] Chr16:5805001..34230001 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
GRCh37/hg19 16p13.2(chr16:8958907-9232888)x3 copy number gain not provided [RCV001259742] Chr16:8958907..9232888 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8210270-9471096)x3 copy number gain not provided [RCV001259744] Chr16:8210270..9471096 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1042T>C (p.Tyr348His) single nucleotide variant Inborn genetic diseases [RCV001266692] Chr16:8915290 [GRCh38]
Chr16:9009147 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1637A>G (p.Glu546Gly) single nucleotide variant not provided [RCV002280461] Chr16:8904502 [GRCh38]
Chr16:8998359 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.2(chr16:8281005-9010923)x3 copy number gain See cases [RCV001263029] Chr16:8281005..9010923 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8899460-10058650)x3 copy number gain not provided [RCV001259741] Chr16:8899460..10058650 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1794dup (p.Asn599fs) duplication not provided [RCV001281656] Chr16:8903312..8903313 [GRCh38]
Chr16:8997169..8997170 [GRCh37]
Chr16:16p13.2		 pathogenic
NC_000016.9:g.(?_8829577)_(10274288_?)dup duplication Landau-Kleffner syndrome [RCV001299712] Chr16:8829577..10274288 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1097A>C (p.Asp366Ala) single nucleotide variant Hao-Fountain syndrome [RCV001270376] Chr16:8910809 [GRCh38]
Chr16:9004666 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.794A>G (p.Tyr265Cys) single nucleotide variant not provided [RCV001367120] Chr16:8917083 [GRCh38]
Chr16:9010940 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2596C>T (p.Gln866Ter) single nucleotide variant Hao-Fountain syndrome [RCV002290715]|Hypotonia [RCV001526521]|not provided [RCV002508806] Chr16:8898575 [GRCh38]
Chr16:8992432 [GRCh37]
Chr16:16p13.2		 pathogenic|likely pathogenic
GRCh37/hg19 16p13.2(chr16:8807079-9045027)x3 copy number gain not provided [RCV001535694] Chr16:8807079..9045027 [GRCh37]
Chr16:16p13.2		 not provided
NM_003470.3(USP7):c.352T>C (p.Phe118Leu) single nucleotide variant Hao-Fountain syndrome [RCV003224889]|not provided [RCV001379661] Chr16:8923246 [GRCh38]
Chr16:9017103 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.1033G>A (p.Glu345Lys) single nucleotide variant Hao-Fountain syndrome [RCV001728152] Chr16:8915299 [GRCh38]
Chr16:9009156 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.2047+12C>T single nucleotide variant not provided [RCV001732256] Chr16:8902070 [GRCh38]
Chr16:8995927 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.2792T>C (p.Leu931Pro) single nucleotide variant not provided [RCV001755490] Chr16:8897026 [GRCh38]
Chr16:8990883 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.807T>C (p.His269=) single nucleotide variant not provided [RCV001726984] Chr16:8917070 [GRCh38]
Chr16:9010927 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_003470.3(USP7):c.841A>G (p.Lys281Glu) single nucleotide variant not provided [RCV001755644] Chr16:8917036 [GRCh38]
Chr16:9010893 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.539A>T (p.Glu180Val) single nucleotide variant not provided [RCV001755673] Chr16:8920431 [GRCh38]
Chr16:9014288 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8852764-9388125)x3 copy number gain See cases [RCV001780079] Chr16:8852764..9388125 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.793T>C (p.Tyr265His) single nucleotide variant not provided [RCV001757565] Chr16:8917084 [GRCh38]
Chr16:9010941 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2756G>A (p.Arg919Gln) single nucleotide variant not provided [RCV001757701] Chr16:8897062 [GRCh38]
Chr16:8990919 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1175G>C (p.Gly392Ala) single nucleotide variant Hao-Fountain syndrome [RCV001788549] Chr16:8908437 [GRCh38]
Chr16:9002294 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.862_863del (p.Leu288fs) deletion Hao-Fountain syndrome [RCV001775225] Chr16:8916545..8916546 [GRCh38]
Chr16:9010402..9010403 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.1597G>A (p.Asp533Asn) single nucleotide variant not provided [RCV001767960] Chr16:8904542 [GRCh38]
Chr16:8998399 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.454C>T (p.Arg152Cys) single nucleotide variant Inborn genetic diseases [RCV002540686]|not provided [RCV001768321] Chr16:8921225 [GRCh38]
Chr16:9015082 [GRCh37]
Chr16:16p13.2		 likely pathogenic|uncertain significance
NM_003470.3(USP7):c.2896A>G (p.Thr966Ala) single nucleotide variant not provided [RCV001757435] Chr16:8895665 [GRCh38]
Chr16:8989522 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3052C>T (p.Arg1018Ter) single nucleotide variant Neurodevelopmental disorder [RCV001780066] Chr16:8894843 [GRCh38]
Chr16:8988700 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_003470.3(USP7):c.662C>T (p.Ala221Val) single nucleotide variant not provided [RCV001757395] Chr16:8919089 [GRCh38]
Chr16:9012946 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.519G>C (p.Trp173Cys) single nucleotide variant not provided [RCV001786952] Chr16:8921160 [GRCh38]
Chr16:9015017 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3281T>G (p.Leu1094Arg) single nucleotide variant not provided [RCV001806887] Chr16:8894026 [GRCh38]
Chr16:8987883 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.1157T>A (p.Leu386Ter) single nucleotide variant Hao-Fountain syndrome [RCV002052174] Chr16:8910749 [GRCh38]
Chr16:9004606 [GRCh37]
Chr16:16p13.2		 likely pathogenic
GRCh37/hg19 16p13.2(chr16:8727589-9041590) copy number gain not specified [RCV002052511] Chr16:8727589..9041590 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8969780-9211161)x1 copy number loss not specified [RCV002052518] Chr16:8969780..9211161 [GRCh37]
Chr16:16p13.2		 pathogenic|uncertain significance
GRCh37/hg19 16p13.2(chr16:8862211-9287762) copy number gain not specified [RCV002052513] Chr16:8862211..9287762 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8959375-9332816) copy number gain not specified [RCV002052517] Chr16:8959375..9332816 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8899897-9050878) copy number gain not specified [RCV002052516] Chr16:8899897..9050878 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8850768-9216009) copy number gain not specified [RCV002052512] Chr16:8850768..9216009 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2785G>A (p.Val929Met) single nucleotide variant Hao-Fountain syndrome [RCV001839252] Chr16:8897033 [GRCh38]
Chr16:8990890 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8829597)_(11650586_?)dup duplication Charcot-Marie-Tooth disease type 1C [RCV003120793]|MHC class II deficiency [RCV002000309] Chr16:8829597..11650586 [GRCh37]
Chr16:16p13.2-13.13		 uncertain significance
NM_003470.3(USP7):c.466C>G (p.His156Asp) single nucleotide variant not provided [RCV002038333] Chr16:8921213 [GRCh38]
Chr16:9015070 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2020G>A (p.Ala674Thr) single nucleotide variant not provided [RCV001997127] Chr16:8902109 [GRCh38]
Chr16:8995966 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8829597)_(9923529_?)del deletion Gamma-aminobutyric acid transaminase deficiency [RCV001958696] Chr16:8829597..9923529 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_003470.3(USP7):c.2629T>C (p.Tyr877His) single nucleotide variant not provided [RCV002211343] Chr16:8898542 [GRCh38]
Chr16:8992399 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2820-14T>G single nucleotide variant not provided [RCV002116004] Chr16:8895755 [GRCh38]
Chr16:8989612 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.1479A>G (p.Ala493=) single nucleotide variant not provided [RCV002212094] Chr16:8905281 [GRCh38]
Chr16:8999138 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.2532-19A>G single nucleotide variant not provided [RCV002147276] Chr16:8898658 [GRCh38]
Chr16:8992515 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.383+10_383+11insGTTTAAATGATGCAACTACAAACCCCCACATCGTT insertion not provided [RCV002096221] Chr16:8923204..8923205 [GRCh38]
Chr16:9017061..9017062 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3202+20dup duplication Hao-Fountain syndrome [RCV002494424]|not provided [RCV002131054] Chr16:8894529..8894530 [GRCh38]
Chr16:8988386..8988387 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.3202+17_3202+18insA insertion not provided [RCV002137603] Chr16:8894532..8894533 [GRCh38]
Chr16:8988389..8988390 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3202+19_3202+20del deletion not provided [RCV002184461] Chr16:8894530..8894531 [GRCh38]
Chr16:8988387..8988388 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.987+16T>C single nucleotide variant not provided [RCV002162197] Chr16:8915429 [GRCh38]
Chr16:9009286 [GRCh37]
Chr16:16p13.2		 benign
NC_000016.9:g.(?_8851594)_(9017290_?)del deletion Gamma-aminobutyric acid transaminase deficiency [RCV003109723] Chr16:8851594..9017290 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8873316)_(8998442_?)dup duplication not provided [RCV003113262] Chr16:8873316..8998442 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_9002178)_(9024274_?)dup duplication not provided [RCV003113263] Chr16:9002178..9024274 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NC_000016.9:g.(?_8829597)_(11683693_?)dup duplication Landau-Kleffner syndrome [RCV003105356] Chr16:8829597..11683693 [GRCh37]
Chr16:16p13.2-13.13		 uncertain significance
NM_003470.3(USP7):c.3043G>A (p.Glu1015Lys) single nucleotide variant Hao-Fountain syndrome [RCV003148214] Chr16:8894852 [GRCh38]
Chr16:8988709 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2140C>T (p.Arg714Cys) single nucleotide variant Hao-Fountain syndrome [RCV002227740] Chr16:8901142 [GRCh38]
Chr16:8994999 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2837G>C (p.Ser946Thr) single nucleotide variant not provided [RCV003231956] Chr16:8895724 [GRCh38]
Chr16:8989581 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1879G>C (p.Ala627Pro) single nucleotide variant not provided [RCV002267418] Chr16:8902443 [GRCh38]
Chr16:8996300 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3111+8G>T single nucleotide variant Hao-Fountain syndrome [RCV002275620] Chr16:8894776 [GRCh38]
Chr16:8988633 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.852-4A>G single nucleotide variant Hao-Fountain syndrome [RCV002266865]|not provided [RCV003096054] Chr16:8916560 [GRCh38]
Chr16:9010417 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.3-13.2(chr16:5381584-10067952) copy number gain Chromosome 16p13.3 duplication syndrome [RCV002280705] Chr16:5381584..10067952 [GRCh37]
Chr16:16p13.3-13.2		 likely pathogenic
NM_003470.3(USP7):c.80-6198C>T single nucleotide variant USP7-related condition [RCV003926361]|not provided [RCV002275514] Chr16:8936595 [GRCh38]
Chr16:9030452 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_003470.3(USP7):c.530C>A (p.Thr177Asn) single nucleotide variant Hao-Fountain syndrome [RCV002276492]|not provided [RCV003096224] Chr16:8920440 [GRCh38]
Chr16:9014297 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3061A>G (p.Met1021Val) single nucleotide variant not provided [RCV002262507] Chr16:8894834 [GRCh38]
Chr16:8988691 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.863T>C (p.Leu288Ser) single nucleotide variant not provided [RCV002269695] Chr16:8916545 [GRCh38]
Chr16:9010402 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3039+3A>G single nucleotide variant Hao-Fountain syndrome [RCV002266578]|not provided [RCV003698893] Chr16:8895028 [GRCh38]
Chr16:8988885 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.701dup (p.Thr235fs) duplication Hao-Fountain syndrome [RCV002471786] Chr16:8919049..8919050 [GRCh38]
Chr16:9012906..9012907 [GRCh37]
Chr16:16p13.2		 pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 copy number gain not provided [RCV002472599] Chr16:4380767..30445350 [GRCh37]
Chr16:16p13.3-11.2		 pathogenic
NM_003470.3(USP7):c.3202+13_3202+14insA insertion not provided [RCV002750220] Chr16:8894536..8894537 [GRCh38]
Chr16:8988393..8988394 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.721-14C>T single nucleotide variant not provided [RCV002750449] Chr16:8917170 [GRCh38]
Chr16:9011027 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1985T>A (p.Leu662Gln) single nucleotide variant Inborn genetic diseases [RCV002772346] Chr16:8902144 [GRCh38]
Chr16:8996001 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2902C>T (p.Arg968Trp) single nucleotide variant not provided [RCV002303777] Chr16:8895659 [GRCh38]
Chr16:8989516 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2434A>T (p.Thr812Ser) single nucleotide variant not provided [RCV002305358] Chr16:8899633 [GRCh38]
Chr16:8993490 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.55G>A (p.Glu19Lys) single nucleotide variant not provided [RCV002299358] Chr16:8963231 [GRCh38]
Chr16:9057088 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1517C>G (p.Ser506Cys) single nucleotide variant not provided [RCV002296468] Chr16:8905243 [GRCh38]
Chr16:8999100 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.247_250del (p.Glu83fs) microsatellite Hao-Fountain syndrome [RCV002302846] Chr16:8923348..8923351 [GRCh38]
Chr16:9017205..9017208 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_003470.3(USP7):c.992A>G (p.Tyr331Cys) single nucleotide variant Hao-Fountain syndrome [RCV002302847] Chr16:8915340 [GRCh38]
Chr16:9009197 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.835T>G (p.Leu279Val) single nucleotide variant Hao-Fountain syndrome [RCV002302848] Chr16:8917042 [GRCh38]
Chr16:9010899 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.2048-7C>G single nucleotide variant not provided [RCV002839023] Chr16:8901241 [GRCh38]
Chr16:8995098 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2668A>G (p.Asn890Asp) single nucleotide variant not provided [RCV002815381] Chr16:8898410 [GRCh38]
Chr16:8992267 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3278dup (p.Tyr1093Ter) duplication not provided [RCV002462774] Chr16:8894028..8894029 [GRCh38]
Chr16:8987885..8987886 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.583G>A (p.Val195Ile) single nucleotide variant not provided [RCV002511829] Chr16:8920387 [GRCh38]
Chr16:9014244 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1614G>C (p.Gln538His) single nucleotide variant not provided [RCV002750867] Chr16:8904525 [GRCh38]
Chr16:8998382 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2463+16T>A single nucleotide variant not provided [RCV002750148] Chr16:8899588 [GRCh38]
Chr16:8993445 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1890T>C (p.Asn630=) single nucleotide variant not provided [RCV002750922] Chr16:8902432 [GRCh38]
Chr16:8996289 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2140+18T>C single nucleotide variant not provided [RCV002750326] Chr16:8901124 [GRCh38]
Chr16:8994981 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.163G>A (p.Ala55Thr) single nucleotide variant not provided [RCV002751299] Chr16:8930314 [GRCh38]
Chr16:9024171 [GRCh37]
Chr16:16p13.2		 benign|uncertain significance
NM_003470.3(USP7):c.3202+17C>A single nucleotide variant not provided [RCV002730706] Chr16:8894533 [GRCh38]
Chr16:8988390 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.184+14G>T single nucleotide variant not provided [RCV002774765] Chr16:8930279 [GRCh38]
Chr16:9024136 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3202+17C>T single nucleotide variant not provided [RCV002750563] Chr16:8894533 [GRCh38]
Chr16:8988390 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.1837A>C (p.Met613Leu) single nucleotide variant not provided [RCV002837645] Chr16:8903270 [GRCh38]
Chr16:8997127 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.12G>C (p.Gln4His) single nucleotide variant USP7-related condition [RCV003916689]|not provided [RCV002993496] Chr16:8963274 [GRCh38]
Chr16:9057131 [GRCh37]
Chr16:16p13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003470.3(USP7):c.1978A>G (p.Ile660Val) single nucleotide variant Inborn genetic diseases [RCV002751536]|not provided [RCV002785255] Chr16:8902151 [GRCh38]
Chr16:8996008 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2640+19G>A single nucleotide variant not provided [RCV002755693] Chr16:8898512 [GRCh38]
Chr16:8992369 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3203-6C>T single nucleotide variant Inborn genetic diseases [RCV002996509]|not provided [RCV003005393] Chr16:8894110 [GRCh38]
Chr16:8987967 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_003470.3(USP7):c.611+20G>C single nucleotide variant not provided [RCV002908836] Chr16:8920339 [GRCh38]
Chr16:9014196 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1840-16_1840-15del deletion not provided [RCV002996851] Chr16:8902497..8902498 [GRCh38]
Chr16:8996354..8996355 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.184+8C>T single nucleotide variant not provided [RCV003016995] Chr16:8930285 [GRCh38]
Chr16:9024142 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1078+16A>C single nucleotide variant not provided [RCV003034313] Chr16:8915238 [GRCh38]
Chr16:9009095 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2326G>A (p.Asp776Asn) single nucleotide variant not provided [RCV002975152] Chr16:8899741 [GRCh38]
Chr16:8993598 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3202+20_3202+21insA insertion not provided [RCV002972498] Chr16:8894529..8894530 [GRCh38]
Chr16:8988386..8988387 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.384-11C>T single nucleotide variant not provided [RCV002774859] Chr16:8921306 [GRCh38]
Chr16:9015163 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1271+9T>C single nucleotide variant not provided [RCV002858460] Chr16:8908332 [GRCh38]
Chr16:9002189 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.907-1G>T single nucleotide variant not provided [RCV002862441] Chr16:8915526 [GRCh38]
Chr16:9009383 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.3202+17C>G single nucleotide variant not provided [RCV002731411] Chr16:8894533 [GRCh38]
Chr16:8988390 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1775C>T (p.Thr592Ile) single nucleotide variant not provided [RCV002731444] Chr16:8903332 [GRCh38]
Chr16:8997189 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1704+6C>T single nucleotide variant not provided [RCV002904425] Chr16:8904429 [GRCh38]
Chr16:8998286 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.516C>A (p.Ala172=) single nucleotide variant not provided [RCV002903921] Chr16:8921163 [GRCh38]
Chr16:9015020 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2919+18T>C single nucleotide variant not provided [RCV002731201] Chr16:8895624 [GRCh38]
Chr16:8989481 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.351C>A (p.Phe117Leu) single nucleotide variant not provided [RCV003015842] Chr16:8923247 [GRCh38]
Chr16:9017104 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2181T>C (p.Ile727=) single nucleotide variant not provided [RCV002975305] Chr16:8901017 [GRCh38]
Chr16:8994874 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.845C>G (p.Ser282Ter) single nucleotide variant Inborn genetic diseases [RCV002777800] Chr16:8917032 [GRCh38]
Chr16:9010889 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_003470.3(USP7):c.3111+8G>C single nucleotide variant not provided [RCV002975047] Chr16:8894776 [GRCh38]
Chr16:8988633 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.2944A>G (p.Ile982Val) single nucleotide variant not provided [RCV002842942] Chr16:8895126 [GRCh38]
Chr16:8988983 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3202+16_3202+17insT insertion not provided [RCV002755485] Chr16:8894533..8894534 [GRCh38]
Chr16:8988390..8988391 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2347G>A (p.Ala783Thr) single nucleotide variant Inborn genetic diseases [RCV002793504] Chr16:8899720 [GRCh38]
Chr16:8993577 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.383+10_383+11insGTTTAAATGATGCAACTACAAACCCCCACGTCGTT insertion not provided [RCV002730782] Chr16:8923204..8923205 [GRCh38]
Chr16:9017061..9017062 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3202+15_3202+16insG insertion not provided [RCV002730824] Chr16:8894534..8894535 [GRCh38]
Chr16:8988391..8988392 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2674C>A (p.Arg892=) single nucleotide variant not provided [RCV003002869] Chr16:8898404 [GRCh38]
Chr16:8992261 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.907-9C>G single nucleotide variant not provided [RCV002948655] Chr16:8915534 [GRCh38]
Chr16:9009391 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.2812A>C (p.Lys938Gln) single nucleotide variant USP7-related condition [RCV003906305]|not provided [RCV002913732] Chr16:8897006 [GRCh38]
Chr16:8990863 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_003470.3(USP7):c.852-13T>C single nucleotide variant not provided [RCV002740534] Chr16:8916569 [GRCh38]
Chr16:9010426 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.720+17C>T single nucleotide variant not provided [RCV002740535] Chr16:8919014 [GRCh38]
Chr16:9012871 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.3202+16C>G single nucleotide variant not provided [RCV002736171] Chr16:8894534 [GRCh38]
Chr16:8988391 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.3202+19_3202+20dup duplication not provided [RCV002760644] Chr16:8894529..8894530 [GRCh38]
Chr16:8988386..8988387 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.3202+16_3202+17insA insertion not provided [RCV002735790] Chr16:8894533..8894534 [GRCh38]
Chr16:8988390..8988391 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.1089A>G (p.Ser363=) single nucleotide variant not provided [RCV002735811] Chr16:8910817 [GRCh38]
Chr16:9004674 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.523-14T>C single nucleotide variant not provided [RCV002760522] Chr16:8920461 [GRCh38]
Chr16:9014318 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3202+17_3202+18insG insertion not provided [RCV002760523] Chr16:8894532..8894533 [GRCh38]
Chr16:8988389..8988390 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2820-14dup duplication not provided [RCV002760548] Chr16:8895754..8895755 [GRCh38]
Chr16:8989611..8989612 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.2208+10G>C single nucleotide variant not provided [RCV003054181] Chr16:8900980 [GRCh38]
Chr16:8994837 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1840-22_1840-12del deletion not provided [RCV002735662] Chr16:8902494..8902504 [GRCh38]
Chr16:8996351..8996361 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.28C>G (p.Gln10Glu) single nucleotide variant not provided [RCV003018958] Chr16:8963258 [GRCh38]
Chr16:9057115 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1429-20G>A single nucleotide variant not provided [RCV002735691] Chr16:8905351 [GRCh38]
Chr16:8999208 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.530C>T (p.Thr177Ile) single nucleotide variant not provided [RCV002510167] Chr16:8920440 [GRCh38]
Chr16:9014297 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1574-17A>T single nucleotide variant not provided [RCV002736852] Chr16:8904582 [GRCh38]
Chr16:8998439 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3040-14C>T single nucleotide variant not provided [RCV002735783] Chr16:8894869 [GRCh38]
Chr16:8988726 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.3060G>C (p.Val1020=) single nucleotide variant not provided [RCV002885796] Chr16:8894835 [GRCh38]
Chr16:8988692 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.185-15G>A single nucleotide variant not provided [RCV002736018] Chr16:8923428 [GRCh38]
Chr16:9017285 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.2820-8C>T single nucleotide variant not provided [RCV002866677] Chr16:8895749 [GRCh38]
Chr16:8989606 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.721-18A>G single nucleotide variant not provided [RCV002909355] Chr16:8917174 [GRCh38]
Chr16:9011031 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2496A>G (p.Thr832=) single nucleotide variant not provided [RCV003021047] Chr16:8899156 [GRCh38]
Chr16:8993013 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2047+17C>T single nucleotide variant not provided [RCV002885504] Chr16:8902065 [GRCh38]
Chr16:8995922 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.693G>A (p.Thr231=) single nucleotide variant not provided [RCV002886597] Chr16:8919058 [GRCh38]
Chr16:9012915 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.60C>T (p.Pro20=) single nucleotide variant not provided [RCV002913076] Chr16:8963226 [GRCh38]
Chr16:9057083 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.1589C>T (p.Ala530Val) single nucleotide variant not provided [RCV003037821] Chr16:8904550 [GRCh38]
Chr16:8998407 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1574-13C>T single nucleotide variant not provided [RCV003055167] Chr16:8904578 [GRCh38]
Chr16:8998435 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1802C>T (p.Ser601Leu) single nucleotide variant not provided [RCV002690602] Chr16:8903305 [GRCh38]
Chr16:8997162 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.2920-6C>T single nucleotide variant not provided [RCV002866244] Chr16:8895156 [GRCh38]
Chr16:8989013 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1079-20T>C single nucleotide variant not provided [RCV002736278] Chr16:8910847 [GRCh38]
Chr16:9004704 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.3112-8del deletion not provided [RCV002912692] Chr16:8894648 [GRCh38]
Chr16:8988505 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.383+10_383+11insGTTTAAATGATGCAACTACAAACCCCCACATTGTT microsatellite not provided [RCV002761062] Chr16:8923204..8923205 [GRCh38]
Chr16:9017061..9017062 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2532-16C>T single nucleotide variant not provided [RCV002736296] Chr16:8898655 [GRCh38]
Chr16:8992512 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1839G>A (p.Met613Ile) single nucleotide variant not provided [RCV002509987] Chr16:8903268 [GRCh38]
Chr16:8997125 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1605T>C (p.Asp535=) single nucleotide variant not provided [RCV002735566] Chr16:8904534 [GRCh38]
Chr16:8998391 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3039+12_3039+19dup duplication not provided [RCV003036022] Chr16:8895011..8895012 [GRCh38]
Chr16:8988868..8988869 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.741C>T (p.Thr247=) single nucleotide variant not provided [RCV002590334] Chr16:8917136 [GRCh38]
Chr16:9010993 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2141-15T>C single nucleotide variant not provided [RCV003021500] Chr16:8901072 [GRCh38]
Chr16:8994929 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3231A>G (p.Leu1077=) single nucleotide variant USP7-related condition [RCV003926513]|not provided [RCV002918213] Chr16:8894076 [GRCh38]
Chr16:8987933 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3202+18_3202+19insG insertion not provided [RCV002740789] Chr16:8894531..8894532 [GRCh38]
Chr16:8988388..8988389 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.1078+6T>C single nucleotide variant not provided [RCV003025009] Chr16:8915248 [GRCh38]
Chr16:9009105 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1705-8A>T single nucleotide variant not provided [RCV002805365] Chr16:8903410 [GRCh38]
Chr16:8997267 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1840-16T>G single nucleotide variant not provided [RCV002929161] Chr16:8902498 [GRCh38]
Chr16:8996355 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.342C>T (p.Ser114=) single nucleotide variant not provided [RCV002918582] Chr16:8923256 [GRCh38]
Chr16:9017113 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1490A>G (p.Asn497Ser) single nucleotide variant not provided [RCV003043245] Chr16:8905270 [GRCh38]
Chr16:8999127 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2309+15A>G single nucleotide variant not provided [RCV003059491] Chr16:8900515 [GRCh38]
Chr16:8994372 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2140+12G>A single nucleotide variant not provided [RCV002745823] Chr16:8901130 [GRCh38]
Chr16:8994987 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.1784A>G (p.Lys595Arg) single nucleotide variant Inborn genetic diseases [RCV002957103] Chr16:8903323 [GRCh38]
Chr16:8997180 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.987+14A>G single nucleotide variant not provided [RCV002876536] Chr16:8915431 [GRCh38]
Chr16:9009288 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.165G>A (p.Ala55=) single nucleotide variant not provided [RCV002918674] Chr16:8930312 [GRCh38]
Chr16:9024169 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1650C>T (p.Ile550=) single nucleotide variant not provided [RCV002933152] Chr16:8904489 [GRCh38]
Chr16:8998346 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3202+16_3202+17insG insertion not provided [RCV002740637] Chr16:8894533..8894534 [GRCh38]
Chr16:8988390..8988391 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.3202+15_3202+16insA insertion not provided [RCV002765643] Chr16:8894534..8894535 [GRCh38]
Chr16:8988391..8988392 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3112-17_3112-14del deletion not provided [RCV002872488] Chr16:8894654..8894657 [GRCh38]
Chr16:8988511..8988514 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3039+9T>C single nucleotide variant not provided [RCV002740841] Chr16:8895022 [GRCh38]
Chr16:8988879 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3112-20T>C single nucleotide variant not provided [RCV003024640] Chr16:8894660 [GRCh38]
Chr16:8988517 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1839+10G>A single nucleotide variant not provided [RCV002741818] Chr16:8903258 [GRCh38]
Chr16:8997115 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2310-19A>C single nucleotide variant not provided [RCV002741677] Chr16:8899776 [GRCh38]
Chr16:8993633 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3144C>T (p.His1048=) single nucleotide variant not provided [RCV002765861] Chr16:8894608 [GRCh38]
Chr16:8988465 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3201C>T (p.Pro1067=) single nucleotide variant not provided [RCV002741528] Chr16:8894551 [GRCh38]
Chr16:8988408 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.10CAG[8] (p.Gln10_Lys11insGln) microsatellite USP7-related condition [RCV003906345]|not provided [RCV002914655] Chr16:8963255..8963256 [GRCh38]
Chr16:9057112..9057113 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_003470.3(USP7):c.2719-17A>G single nucleotide variant not provided [RCV002830002] Chr16:8897116 [GRCh38]
Chr16:8990973 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.97C>T (p.Pro33Ser) single nucleotide variant not provided [RCV002741670] Chr16:8930380 [GRCh38]
Chr16:9024237 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.10CAG[6] (p.Gln10del) microsatellite USP7-related condition [RCV003963386]|not provided [RCV002890728] Chr16:8963256..8963258 [GRCh38]
Chr16:9057113..9057115 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_003470.3(USP7):c.2464-18_2464-17inv inversion not provided [RCV003007403] Chr16:8899205..8899206 [GRCh38]
Chr16:8993062..8993063 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1137C>T (p.Tyr379=) single nucleotide variant not provided [RCV002624137] Chr16:8910769 [GRCh38]
Chr16:9004626 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.1574-14C>T single nucleotide variant not provided [RCV003059189] Chr16:8904579 [GRCh38]
Chr16:8998436 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.324C>T (p.Asp108=) single nucleotide variant not provided [RCV002741255] Chr16:8923274 [GRCh38]
Chr16:9017131 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.133_138del (p.Asn45_Val46del) deletion not provided [RCV002958054] Chr16:8930339..8930344 [GRCh38]
Chr16:9024196..9024201 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2820-14del deletion not provided [RCV002741376] Chr16:8895755 [GRCh38]
Chr16:8989612 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.10CAG[5] (p.Gln9_Gln10del) microsatellite not provided [RCV002666532] Chr16:8963256..8963261 [GRCh38]
Chr16:9057113..9057118 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3015C>T (p.Ile1005=) single nucleotide variant not provided [RCV003025572] Chr16:8895055 [GRCh38]
Chr16:8988912 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2874A>G (p.Leu958=) single nucleotide variant not provided [RCV002958113] Chr16:8895687 [GRCh38]
Chr16:8989544 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.2919+17C>T single nucleotide variant not provided [RCV002741124] Chr16:8895625 [GRCh38]
Chr16:8989482 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1449C>T (p.Asp483=) single nucleotide variant not provided [RCV002917925] Chr16:8905311 [GRCh38]
Chr16:8999168 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2464-20C>A single nucleotide variant not provided [RCV002740635] Chr16:8899208 [GRCh38]
Chr16:8993065 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.3040-20C>T single nucleotide variant not provided [RCV003048953] Chr16:8894875 [GRCh38]
Chr16:8988732 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2531+14G>A single nucleotide variant not provided [RCV003063797] Chr16:8899107 [GRCh38]
Chr16:8992964 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2577T>C (p.Gly859=) single nucleotide variant not provided [RCV003009717] Chr16:8898594 [GRCh38]
Chr16:8992451 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.765C>T (p.Ser255=) single nucleotide variant not provided [RCV002602911] Chr16:8917112 [GRCh38]
Chr16:9010969 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.185-14T>C single nucleotide variant not provided [RCV003029750] Chr16:8923427 [GRCh38]
Chr16:9017284 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1773C>T (p.Tyr591=) single nucleotide variant not provided [RCV003044279] Chr16:8903334 [GRCh38]
Chr16:8997191 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.164C>T (p.Ala55Val) single nucleotide variant Inborn genetic diseases [RCV002879034]|not provided [RCV003561116] Chr16:8930313 [GRCh38]
Chr16:9024170 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_003470.3(USP7):c.975C>T (p.Arg325=) single nucleotide variant not provided [RCV003061003] Chr16:8915457 [GRCh38]
Chr16:9009314 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2047+12C>G single nucleotide variant not provided [RCV002746714] Chr16:8902070 [GRCh38]
Chr16:8995927 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.383+10_383+11insGTTTAAATGATGTAACTACAAACCCCCACATCGTT insertion not provided [RCV002746153] Chr16:8923204..8923205 [GRCh38]
Chr16:9017061..9017062 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1602T>C (p.His534=) single nucleotide variant not provided [RCV003087748] Chr16:8904537 [GRCh38]
Chr16:8998394 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_003470.3(USP7):c.720+7G>A single nucleotide variant not provided [RCV002647980] Chr16:8919024 [GRCh38]
Chr16:9012881 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3202+18_3202+19insA insertion not provided [RCV002745970] Chr16:8894531..8894532 [GRCh38]
Chr16:8988388..8988389 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3189T>C (p.Phe1063=) single nucleotide variant not provided [RCV003086362] Chr16:8894563 [GRCh38]
Chr16:8988420 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2718+8T>A single nucleotide variant not provided [RCV003046456] Chr16:8898352 [GRCh38]
Chr16:8992209 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1079-19del deletion not provided [RCV002746557] Chr16:8910846 [GRCh38]
Chr16:9004703 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.1849_1850dup (p.Gln617fs) microsatellite Hao-Fountain syndrome [RCV002810044] Chr16:8902471..8902472 [GRCh38]
Chr16:8996328..8996329 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.705G>T (p.Thr235=) single nucleotide variant not provided [RCV002806397] Chr16:8919046 [GRCh38]
Chr16:9012903 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.409G>A (p.Val137Met) single nucleotide variant Inborn genetic diseases [RCV002934827] Chr16:8921270 [GRCh38]
Chr16:9015127 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1427A>G (p.Lys476Arg) single nucleotide variant not provided [RCV002922259] Chr16:8906427 [GRCh38]
Chr16:9000284 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.184+13G>C single nucleotide variant not provided [RCV002810632] Chr16:8930280 [GRCh38]
Chr16:9024137 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.261C>T (p.Ser87=) single nucleotide variant not provided [RCV002895917] Chr16:8923337 [GRCh38]
Chr16:9017194 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.1713A>C (p.Ala571=) single nucleotide variant not provided [RCV002962355] Chr16:8903394 [GRCh38]
Chr16:8997251 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_003470.3(USP7):c.2415T>C (p.Asn805=) single nucleotide variant not provided [RCV002746518] Chr16:8899652 [GRCh38]
Chr16:8993509 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1272-9T>G single nucleotide variant not provided [RCV002633839] Chr16:8906591 [GRCh38]
Chr16:9000448 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.252G>A (p.Ser84=) single nucleotide variant not provided [RCV003051310] Chr16:8923346 [GRCh38]
Chr16:9017203 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2755C>T (p.Arg919Trp) single nucleotide variant not provided [RCV002943680] Chr16:8897063 [GRCh38]
Chr16:8990920 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2805A>G (p.Ala935=) single nucleotide variant not provided [RCV002585117] Chr16:8897013 [GRCh38]
Chr16:8990870 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.1926C>T (p.Ala642=) single nucleotide variant not provided [RCV002588778] Chr16:8902396 [GRCh38]
Chr16:8996253 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.642C>T (p.Val214=) single nucleotide variant not provided [RCV002587589] Chr16:8919109 [GRCh38]
Chr16:9012966 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.56A>G (p.Glu19Gly) single nucleotide variant Inborn genetic diseases [RCV002722940] Chr16:8963230 [GRCh38]
Chr16:9057087 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2748G>A (p.Gly916=) single nucleotide variant not provided [RCV002607518] Chr16:8897070 [GRCh38]
Chr16:8990927 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1079-8_1079-5del deletion not provided [RCV003050418] Chr16:8910832..8910835 [GRCh38]
Chr16:9004689..9004692 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.531C>T (p.Thr177=) single nucleotide variant not provided [RCV002633390] Chr16:8920439 [GRCh38]
Chr16:9014296 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2051A>T (p.Asp684Val) single nucleotide variant Hao-Fountain syndrome [RCV003224902] Chr16:8901231 [GRCh38]
Chr16:8995088 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.2232_2235del (p.Arg745fs) microsatellite Hao-Fountain syndrome [RCV003224912] Chr16:8900604..8900607 [GRCh38]
Chr16:8994461..8994464 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.2839T>C (p.Tyr947His) single nucleotide variant not provided [RCV003227389] Chr16:8895722 [GRCh38]
Chr16:8989579 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.713T>G (p.Leu238Arg) single nucleotide variant Hao-Fountain syndrome [RCV003224905] Chr16:8919038 [GRCh38]
Chr16:9012895 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.1988A>C (p.Glu663Ala) single nucleotide variant Hao-Fountain syndrome [RCV003224907] Chr16:8902141 [GRCh38]
Chr16:8995998 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.2132_2140+9del deletion Hao-Fountain syndrome [RCV003224911] Chr16:8901133..8901150 [GRCh38]
Chr16:8994990..8995007 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.2014A>G (p.Ser672Gly) single nucleotide variant not provided [RCV003229140] Chr16:8902115 [GRCh38]
Chr16:8995972 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.9:g.(?_8160554)_(9074348_?)del deletion Hao-Fountain syndrome [RCV003224906] Chr16:8160554..9074348 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_003470.3(USP7):c.1258A>G (p.Lys420Glu) single nucleotide variant Hao-Fountain syndrome [RCV003224908] Chr16:8908354 [GRCh38]
Chr16:9002211 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.1934A>G (p.Asn645Ser) single nucleotide variant Inborn genetic diseases [RCV003189108]|not provided [RCV003730431] Chr16:8902388 [GRCh38]
Chr16:8996245 [GRCh37]
Chr16:16p13.2		 likely benign|uncertain significance
NM_003470.3(USP7):c.1124G>A (p.Gly375Glu) single nucleotide variant Hao-Fountain syndrome [RCV003142390] Chr16:8910782 [GRCh38]
Chr16:9004639 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3163G>A (p.Glu1055Lys) single nucleotide variant Hao-Fountain syndrome [RCV003139248] Chr16:8894589 [GRCh38]
Chr16:8988446 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3039+5G>A single nucleotide variant Hao-Fountain syndrome [RCV003225909] Chr16:8895026 [GRCh38]
Chr16:8988883 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1244C>T (p.Thr415Met) single nucleotide variant Inborn genetic diseases [RCV003197958]|not provided [RCV003317667] Chr16:8908368 [GRCh38]
Chr16:9002225 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1091T>A (p.Phe364Tyr) single nucleotide variant Hao-Fountain syndrome [RCV003224903] Chr16:8910815 [GRCh38]
Chr16:9004672 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1297C>A (p.Leu433Ile) single nucleotide variant Hao-Fountain syndrome [RCV003224904] Chr16:8906557 [GRCh38]
Chr16:9000414 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.721-1G>C single nucleotide variant Hao-Fountain syndrome [RCV003224910] Chr16:8917157 [GRCh38]
Chr16:9011014 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.1572G>T (p.Leu524=) single nucleotide variant Hao-Fountain syndrome [RCV003228225] Chr16:8905188 [GRCh38]
Chr16:8999045 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.884A>G (p.Asp295Gly) single nucleotide variant Hao-Fountain syndrome [RCV003224909] Chr16:8916524 [GRCh38]
Chr16:9010381 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.2207A>G (p.Glu736Gly) single nucleotide variant not provided [RCV003318960] Chr16:8900991 [GRCh38]
Chr16:8994848 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1810G>A (p.Glu604Lys) single nucleotide variant Inborn genetic diseases [RCV003265599] Chr16:8903297 [GRCh38]
Chr16:8997154 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3058G>T (p.Val1020Leu) single nucleotide variant not provided [RCV003325078] Chr16:8894837 [GRCh38]
Chr16:8988694 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2758G>C (p.Asp920His) single nucleotide variant not provided [RCV003321381] Chr16:8897060 [GRCh38]
Chr16:8990917 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2029C>T (p.Pro677Ser) single nucleotide variant Inborn genetic diseases [RCV003309378] Chr16:8902100 [GRCh38]
Chr16:8995957 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1838T>C (p.Met613Thr) single nucleotide variant not specified [RCV003324469] Chr16:8903269 [GRCh38]
Chr16:8997126 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.987+14del deletion not specified [RCV003324468] Chr16:8915431 [GRCh38]
Chr16:9009288 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3125T>C (p.Ile1042Thr) single nucleotide variant not provided [RCV003332671] Chr16:8894627 [GRCh38]
Chr16:8988484 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.8A>G (p.His3Arg) single nucleotide variant not provided [RCV003332694] Chr16:8963278 [GRCh38]
Chr16:9057135 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.101C>G (p.Pro34Arg) single nucleotide variant Inborn genetic diseases [RCV003372069] Chr16:8930376 [GRCh38]
Chr16:9024233 [GRCh37]
Chr16:16p13.2		 uncertain significance
NC_000016.10:g.8884346G>A single nucleotide variant not provided [RCV002211342] Chr16:8884346 [GRCh38]
Chr16:8978203 [GRCh37]
Chr16:16p13.2		 benign|likely benign
NM_003470.3(USP7):c.1722del (p.Gln574fs) deletion Hao-Fountain syndrome [RCV003482198] Chr16:8903385 [GRCh38]
Chr16:8997242 [GRCh37]
Chr16:16p13.2		 pathogenic
NC_000016.10:g.8975163G>A single nucleotide variant not provided [RCV003457246] Chr16:8975163 [GRCh38]
Chr16:9069020 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:9025341-9312106)x3 copy number gain not provided [RCV003485091] Chr16:9025341..9312106 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.62A>G (p.Glu21Gly) single nucleotide variant not provided [RCV003480165] Chr16:8963224 [GRCh38]
Chr16:9057081 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8396405-9479483)x3 copy number gain not provided [RCV003485089] Chr16:8396405..9479483 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh37/hg19 16p13.2(chr16:8922659-9123395)x3 copy number gain not provided [RCV003485090] Chr16:8922659..9123395 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_001395433.1(LITAFD):c.163G>T (p.Val55Leu) single nucleotide variant not provided [RCV003426577] Chr16:8885239 [GRCh38]
Chr16:8979096 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.82G>C (p.Gly28Arg) single nucleotide variant USP7-related condition [RCV003406138] Chr16:8930395 [GRCh38]
Chr16:9024252 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.691A>G (p.Thr231Ala) single nucleotide variant Hao-Fountain syndrome [RCV003448520] Chr16:8919060 [GRCh38]
Chr16:9012917 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.901C>G (p.Arg301Gly) single nucleotide variant USP7-related condition [RCV003397847] Chr16:8916507 [GRCh38]
Chr16:9010364 [GRCh37]
Chr16:16p13.2		 likely pathogenic
NM_003470.3(USP7):c.746G>A (p.Gly249Glu) single nucleotide variant not provided [RCV003443789] Chr16:8917131 [GRCh38]
Chr16:9010988 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1925C>G (p.Ala642Gly) single nucleotide variant USP7-related condition [RCV003400165] Chr16:8902397 [GRCh38]
Chr16:8996254 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.81G>A (p.Ala27=) single nucleotide variant not provided [RCV003426578] Chr16:8930396 [GRCh38]
Chr16:9024253 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2255C>G (p.Ser752Cys) single nucleotide variant not provided [RCV003417634] Chr16:8900584 [GRCh38]
Chr16:8994441 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1482T>C (p.Ile494=) single nucleotide variant not provided [RCV003417635] Chr16:8905278 [GRCh38]
Chr16:8999135 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.792C>T (p.Phe264=) single nucleotide variant not provided [RCV003417636] Chr16:8917085 [GRCh38]
Chr16:9010942 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.591G>A (p.Ala197=) single nucleotide variant not provided [RCV003417637] Chr16:8920379 [GRCh38]
Chr16:9014236 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.165GGA[2] (p.Glu57del) microsatellite not provided [RCV003417638] Chr16:8930304..8930306 [GRCh38]
Chr16:9024161..9024163 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.80-6190G>T single nucleotide variant not provided [RCV003417639] Chr16:8936587 [GRCh38]
Chr16:9030444 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1629A>T (p.Arg543=) single nucleotide variant not provided [RCV003572017] Chr16:8904510 [GRCh38]
Chr16:8998367 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1872C>G (p.Pro624=) single nucleotide variant not provided [RCV003715422] Chr16:8902450 [GRCh38]
Chr16:8996307 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.906+17A>G single nucleotide variant not provided [RCV003712970] Chr16:8916485 [GRCh38]
Chr16:9010342 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2796G>A (p.Gly932=) single nucleotide variant not provided [RCV003662213] Chr16:8897022 [GRCh38]
Chr16:8990879 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.37G>A (p.Gly13Ser) single nucleotide variant not provided [RCV003545169] Chr16:8963249 [GRCh38]
Chr16:9057106 [GRCh37]
Chr16:16p13.2		 uncertain significance
GRCh38/hg38 16p13.2(chr16:8937723-10049200) copy number loss Autism spectrum disorder [RCV003883414] Chr16:8937723..10049200 [GRCh38]
Chr16:16p13.2		 pathogenic
NM_003470.3(USP7):c.3193C>T (p.Pro1065Ser) single nucleotide variant not provided [RCV003687422] Chr16:8894559 [GRCh38]
Chr16:8988416 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.185-13_185-12del microsatellite not provided [RCV003713386] Chr16:8923425..8923426 [GRCh38]
Chr16:9017282..9017283 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.230G>C (p.Arg77Pro) single nucleotide variant not provided [RCV003572481] Chr16:8923368 [GRCh38]
Chr16:9017225 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2920-3C>T single nucleotide variant not provided [RCV003715445] Chr16:8895153 [GRCh38]
Chr16:8989010 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1289A>G (p.Gln430Arg) single nucleotide variant not provided [RCV003663513] Chr16:8906565 [GRCh38]
Chr16:9000422 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1452G>A (p.Val484=) single nucleotide variant not provided [RCV003665297] Chr16:8905308 [GRCh38]
Chr16:8999165 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3202+20C>A single nucleotide variant not provided [RCV003699368] Chr16:8894530 [GRCh38]
Chr16:8988387 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.663G>A (p.Ala221=) single nucleotide variant not provided [RCV003659512] Chr16:8919088 [GRCh38]
Chr16:9012945 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2820-3C>T single nucleotide variant not provided [RCV003702913] Chr16:8895744 [GRCh38]
Chr16:8989601 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3039+20C>T single nucleotide variant not provided [RCV003703503] Chr16:8895011 [GRCh38]
Chr16:8988868 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2531+20A>T single nucleotide variant not provided [RCV003703508] Chr16:8899101 [GRCh38]
Chr16:8992958 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1167A>G (p.Ala389=) single nucleotide variant not provided [RCV003697894] Chr16:8908445 [GRCh38]
Chr16:9002302 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.483A>G (p.Lys161=) single nucleotide variant not provided [RCV003664194] Chr16:8921196 [GRCh38]
Chr16:9015053 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1161+10G>T single nucleotide variant not provided [RCV003549435] Chr16:8910735 [GRCh38]
Chr16:9004592 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1710C>T (p.Val570=) single nucleotide variant not provided [RCV003697898] Chr16:8903397 [GRCh38]
Chr16:8997254 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.558T>C (p.Asp186=) single nucleotide variant not provided [RCV003698165] Chr16:8920412 [GRCh38]
Chr16:9014269 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1573+18T>C single nucleotide variant not provided [RCV003673445] Chr16:8905169 [GRCh38]
Chr16:8999026 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.66C>T (p.Asp22=) single nucleotide variant not provided [RCV003558330] Chr16:8963220 [GRCh38]
Chr16:9057077 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.80-17_80-16del deletion not provided [RCV003702757] Chr16:8930413..8930414 [GRCh38]
Chr16:9024270..9024271 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2820-12dup duplication not provided [RCV003702739] Chr16:8895752..8895753 [GRCh38]
Chr16:8989609..8989610 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.384-18G>T single nucleotide variant not provided [RCV003702798] Chr16:8921313 [GRCh38]
Chr16:9015170 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.79+9C>G single nucleotide variant not provided [RCV003668061] Chr16:8963198 [GRCh38]
Chr16:9057055 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.973C>T (p.Arg325Cys) single nucleotide variant not provided [RCV003580629] Chr16:8915459 [GRCh38]
Chr16:9009316 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2048-13A>C single nucleotide variant not provided [RCV003670997] Chr16:8901247 [GRCh38]
Chr16:8995104 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3202+14_3202+15insG insertion not provided [RCV003665100] Chr16:8894535..8894536 [GRCh38]
Chr16:8988392..8988393 [GRCh37]
Chr16:16p13.2		 benign
NM_003470.3(USP7):c.2643T>G (p.Leu881=) single nucleotide variant not provided [RCV003701292] Chr16:8898435 [GRCh38]
Chr16:8992292 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2718+12T>A single nucleotide variant not provided [RCV003558079] Chr16:8898348 [GRCh38]
Chr16:8992205 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1573+19T>C single nucleotide variant not provided [RCV003698139] Chr16:8905168 [GRCh38]
Chr16:8999025 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2346C>T (p.Thr782=) single nucleotide variant not provided [RCV003712420] Chr16:8899721 [GRCh38]
Chr16:8993578 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2446A>G (p.Arg816Gly) single nucleotide variant not provided [RCV003711193] Chr16:8899621 [GRCh38]
Chr16:8993478 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.569C>T (p.Thr190Ile) single nucleotide variant not provided [RCV003563267] Chr16:8920401 [GRCh38]
Chr16:9014258 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.682C>T (p.Leu228=) single nucleotide variant not provided [RCV003731649] Chr16:8919069 [GRCh38]
Chr16:9012926 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.383+10_383+11insGTTTAAATGATGCAACTGCAAACCCCCACATCGTT insertion not provided [RCV003705603] Chr16:8923204..8923205 [GRCh38]
Chr16:9017061..9017062 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.3203-9C>A single nucleotide variant not provided [RCV003709663] Chr16:8894113 [GRCh38]
Chr16:8987970 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.110C>G (p.Thr37Ser) single nucleotide variant not provided [RCV003705696] Chr16:8930367 [GRCh38]
Chr16:9024224 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.906+15A>G single nucleotide variant not provided [RCV003710127] Chr16:8916487 [GRCh38]
Chr16:9010344 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.10CAG[9] (p.Gln10_Lys11insGlnGln) microsatellite not provided [RCV003871791] Chr16:8963255..8963256 [GRCh38]
Chr16:9057112..9057113 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.2826A>G (p.Leu942=) single nucleotide variant not provided [RCV003719612] Chr16:8895735 [GRCh38]
Chr16:8989592 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.383+10_383+11insGTTTAAATGATGCAACTACAAACCTCCACATCGTT insertion not provided [RCV003718907] Chr16:8923204..8923205 [GRCh38]
Chr16:9017061..9017062 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.2464-17T>A single nucleotide variant not provided [RCV003567840] Chr16:8899205 [GRCh38]
Chr16:8993062 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1429-9T>C single nucleotide variant not provided [RCV003734725] Chr16:8905340 [GRCh38]
Chr16:8999197 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1689C>T (p.Leu563=) single nucleotide variant not provided [RCV003556860] Chr16:8904450 [GRCh38]
Chr16:8998307 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.3112-4T>G single nucleotide variant not provided [RCV003733202] Chr16:8894644 [GRCh38]
Chr16:8988501 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.756G>A (p.Ser252=) single nucleotide variant not provided [RCV003551157] Chr16:8917121 [GRCh38]
Chr16:9010978 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.80-8C>A single nucleotide variant not provided [RCV003710649] Chr16:8930405 [GRCh38]
Chr16:9024262 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.597T>A (p.Ala199=) single nucleotide variant not provided [RCV003676399] Chr16:8920373 [GRCh38]
Chr16:9014230 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1573+5G>T single nucleotide variant not provided [RCV003887039] Chr16:8905182 [GRCh38]
Chr16:8999039 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1839+9C>T single nucleotide variant USP7-related condition [RCV003903878] Chr16:8903259 [GRCh38]
Chr16:8997116 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.80-6195G>A single nucleotide variant USP7-related condition [RCV003899532] Chr16:8936592 [GRCh38]
Chr16:9030449 [GRCh37]
Chr16:16p13.2		 uncertain significance
NM_003470.3(USP7):c.1942-5A>C single nucleotide variant USP7-related condition [RCV003896781] Chr16:8902192 [GRCh38]
Chr16:8996049 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.990C>T (p.Ser330=) single nucleotide variant USP7-related condition [RCV003914302] Chr16:8915342 [GRCh38]
Chr16:9009199 [GRCh37]
Chr16:16p13.2		 likely benign
NM_003470.3(USP7):c.1749del (p.Met583fs) deletion not provided [RCV003887763] Chr16:8903358 [GRCh38]
Chr16:8997215 [GRCh37]
Chr16:16p13.2		 pathogenic
NM_003470.3(USP7):c.2511G>C (p.Leu837=) single nucleotide variant not provided [RCV003884192] Chr16:8899141 [GRCh38]
Chr16:8992998 [GRCh37]
Chr16:16p13.2		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5839
Count of miRNA genes:1335
Interacting mature miRNAs:1750
Transcripts:ENST00000344836, ENST00000381886, ENST00000535863, ENST00000542333, ENST00000562051, ENST00000562615, ENST00000563043, ENST00000563085, ENST00000563961, ENST00000564117, ENST00000565455, ENST00000565883, ENST00000566004, ENST00000566131, ENST00000566224, ENST00000566273, ENST00000567113, ENST00000567329, ENST00000567692, ENST00000569230, ENST00000569448, ENST00000570256
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.

Markers in Region
RH65086  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,986,721 - 8,986,911UniSTSGRCh37
Build 36168,894,222 - 8,894,412RGDNCBI36
Celera169,153,489 - 9,153,679RGD
Cytogenetic Map16p13.3UniSTS
HuRef168,907,846 - 8,908,036UniSTS
GeneMap99-GB4 RH Map1694.15UniSTS
RH65018  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,986,764 - 8,986,883UniSTSGRCh37
Build 36168,894,265 - 8,894,384RGDNCBI36
Celera169,153,532 - 9,153,651RGD
Cytogenetic Map16p13.3UniSTS
HuRef168,907,889 - 8,908,008UniSTS
RH64928  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,987,138 - 8,987,282UniSTSGRCh37
Build 36168,894,639 - 8,894,783RGDNCBI36
Celera169,153,906 - 9,154,050RGD
Cytogenetic Map16p13.3UniSTS
HuRef168,908,263 - 8,908,407UniSTS
RH65057  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,991,269 - 8,991,370UniSTSGRCh37
Build 36168,898,770 - 8,898,871RGDNCBI36
Celera1615,031,677 - 15,031,778RGD
Celera169,158,034 - 9,158,135UniSTS
Cytogenetic Map16p13.3UniSTS
HuRef168,912,393 - 8,912,494UniSTS
RH80190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,987,043 - 8,987,283UniSTSGRCh37
Build 36168,894,544 - 8,894,784RGDNCBI36
Celera169,153,811 - 9,154,051RGD
Cytogenetic Map16p13.3UniSTS
HuRef168,908,168 - 8,908,408UniSTS
GeneMap99-GB4 RH Map1678.64UniSTS
SHGC-83906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37169,030,082 - 9,030,408UniSTSGRCh37
Build 36168,937,583 - 8,937,909RGDNCBI36
Celera169,196,884 - 9,197,210RGD
Cytogenetic Map16p13.3UniSTS
HuRef168,951,240 - 8,951,566UniSTS
TNG Radiation Hybrid Map164288.0UniSTS
D16S3010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,987,350 - 8,987,455UniSTSGRCh37
Build 36168,894,851 - 8,894,956RGDNCBI36
Celera169,154,118 - 9,154,223RGD
Cytogenetic Map16p13.3UniSTS
HuRef168,908,475 - 8,908,580UniSTS
USP7_1808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,987,180 - 8,987,960UniSTSGRCh37
Build 36168,894,681 - 8,895,461RGDNCBI36
Celera169,153,948 - 9,154,728RGD
HuRef168,908,305 - 8,909,085UniSTS
SHGC-61120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,991,375 - 8,991,555UniSTSGRCh37
Build 36168,898,876 - 8,899,056RGDNCBI36
Celera1615,031,492 - 15,031,672RGD
Celera169,158,140 - 9,158,320UniSTS
Cytogenetic Map16p13.3UniSTS
HuRef168,912,499 - 8,912,679UniSTS
GeneMap99-GB4 RH Map1677.68UniSTS
NCBI RH Map16102.0UniSTS
RH65300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37168,999,079 - 9,000,299UniSTSGRCh37
Celera169,165,846 - 9,167,066UniSTS
Cytogenetic Map16p13.3UniSTS
HuRef168,920,205 - 8,921,425UniSTS
GeneMap99-GB4 RH Map5453.02UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2439 2761 1701 601 1836 442 4357 2097 3507 403 1460 1611 175 1 1204 2788 6 2
Low 230 25 23 115 23 100 227 16 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_046847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047434605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054313882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC022167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY376241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM661563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC403095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC403559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC309806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z72499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000344836   ⟹   ENSP00000343535
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,892,097 - 8,963,906 (-)Ensembl
RefSeq Acc Id: ENST00000381886   ⟹   ENSP00000371310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,893,788 - 8,936,729 (-)Ensembl
RefSeq Acc Id: ENST00000542333   ⟹   ENSP00000439272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,902,143 - 8,949,653 (-)Ensembl
RefSeq Acc Id: ENST00000562051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,899,150 - 8,900,131 (-)Ensembl
RefSeq Acc Id: ENST00000562615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,897,064 - 8,898,720 (-)Ensembl
RefSeq Acc Id: ENST00000563043   ⟹   ENSP00000459594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,898,594 - 8,901,205 (-)Ensembl
RefSeq Acc Id: ENST00000563085   ⟹   ENSP00000454795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,895,045 - 8,956,380 (-)Ensembl
RefSeq Acc Id: ENST00000563961   ⟹   ENSP00000454362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,892,772 - 8,963,422 (-)Ensembl
RefSeq Acc Id: ENST00000564117   ⟹   ENSP00000457815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,921,177 - 8,935,856 (-)Ensembl
RefSeq Acc Id: ENST00000565455   ⟹   ENSP00000456258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,893,940 - 8,936,673 (-)Ensembl
RefSeq Acc Id: ENST00000565883
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,895,084 - 8,898,544 (-)Ensembl
RefSeq Acc Id: ENST00000566004   ⟹   ENSP00000456150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,920,405 - 8,956,380 (-)Ensembl
RefSeq Acc Id: ENST00000566131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,899,580 - 8,900,920 (-)Ensembl
RefSeq Acc Id: ENST00000566224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,923,307 - 8,935,758 (-)Ensembl
RefSeq Acc Id: ENST00000566273   ⟹   ENSP00000455719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,921,160 - 8,962,612 (-)Ensembl
RefSeq Acc Id: ENST00000567113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,895,059 - 8,897,254 (-)Ensembl
RefSeq Acc Id: ENST00000567329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,902,139 - 8,904,522 (-)Ensembl
RefSeq Acc Id: ENST00000567692   ⟹   ENSP00000458027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,899,175 - 8,901,185 (-)Ensembl
RefSeq Acc Id: ENST00000569230   ⟹   ENSP00000457237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,920,443 - 8,964,514 (-)Ensembl
RefSeq Acc Id: ENST00000569448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,899,307 - 8,901,219 (-)Ensembl
RefSeq Acc Id: ENST00000570256
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,901,933 - 8,904,533 (-)Ensembl
RefSeq Acc Id: ENST00000673704   ⟹   ENSP00000501290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,892,097 - 8,975,328 (-)Ensembl
RefSeq Acc Id: ENST00000700579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl168,904,505 - 8,932,053 (-)Ensembl
RefSeq Acc Id: NM_001286457   ⟹   NP_001273386
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,892,097 - 8,936,639 (-)NCBI
HuRef168,907,081 - 8,951,744 (-)NCBI
CHM1_1168,985,936 - 9,030,617 (-)NCBI
T2T-CHM13v2.0168,924,836 - 8,969,401 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001286458   ⟹   NP_001273387
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,892,097 - 8,936,639 (-)NCBI
HuRef168,907,081 - 8,951,744 (-)NCBI
CHM1_1168,985,936 - 9,030,617 (-)NCBI
T2T-CHM13v2.0168,924,836 - 8,969,401 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321858   ⟹   NP_001308787
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,892,097 - 8,956,380 (-)NCBI
CHM1_1168,985,936 - 9,050,365 (-)NCBI
T2T-CHM13v2.0168,924,836 - 8,989,047 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003470   ⟹   NP_003461
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,892,097 - 8,963,906 (-)NCBI
GRCh37168,985,951 - 9,057,341 (-)ENTREZGENE
Build 36168,893,452 - 8,964,842 (-)NCBI Archive
HuRef168,907,081 - 8,951,744 (-)NCBI
CHM1_1168,985,936 - 9,057,340 (-)NCBI
T2T-CHM13v2.0168,924,836 - 8,996,578 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135826
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,892,097 - 8,949,654 (-)NCBI
CHM1_1168,985,936 - 9,043,545 (-)NCBI
T2T-CHM13v2.0168,924,836 - 8,982,418 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047434605   ⟹   XP_047290561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,892,097 - 8,949,576 (-)NCBI
RefSeq Acc Id: XM_054313882   ⟹   XP_054169857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0168,924,836 - 8,982,340 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_003461   ⟸   NM_003470
- Peptide Label: isoform 1
- UniProtKB: B7Z815 (UniProtKB/Swiss-Prot),   A6NMY8 (UniProtKB/Swiss-Prot),   H0Y3G8 (UniProtKB/Swiss-Prot),   Q93009 (UniProtKB/Swiss-Prot),   B7ZAX6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273386   ⟸   NM_001286457
- Peptide Label: isoform 2
- UniProtKB: B7ZAX6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001273387   ⟸   NM_001286458
- Peptide Label: isoform 3
- UniProtKB: B7Z855 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308787   ⟸   NM_001321858
- Peptide Label: isoform 4
- UniProtKB: B7Z855 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000501290   ⟸   ENST00000673704
RefSeq Acc Id: ENSP00000439272   ⟸   ENST00000542333
RefSeq Acc Id: ENSP00000459594   ⟸   ENST00000563043
RefSeq Acc Id: ENSP00000454795   ⟸   ENST00000563085
RefSeq Acc Id: ENSP00000454362   ⟸   ENST00000563961
RefSeq Acc Id: ENSP00000457815   ⟸   ENST00000564117
RefSeq Acc Id: ENSP00000456258   ⟸   ENST00000565455
RefSeq Acc Id: ENSP00000455719   ⟸   ENST00000566273
RefSeq Acc Id: ENSP00000456150   ⟸   ENST00000566004
RefSeq Acc Id: ENSP00000371310   ⟸   ENST00000381886
RefSeq Acc Id: ENSP00000458027   ⟸   ENST00000567692
RefSeq Acc Id: ENSP00000343535   ⟸   ENST00000344836
RefSeq Acc Id: ENSP00000457237   ⟸   ENST00000569230
RefSeq Acc Id: XP_047290561   ⟸   XM_047434605
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054169857   ⟸   XM_054313882
- Peptide Label: isoform X1
Protein Domains
MATH   USP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q93009-F1-model_v2 AlphaFold Q93009 1-1102 view protein structure

Promoters
RGD ID:7231291
Promoter ID:EPDNEW_H21391
Type:initiation region
Name:USP7_2
Description:ubiquitin specific peptidase 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21392  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,936,639 - 8,936,699EPDNEW
RGD ID:6793590
Promoter ID:HG_KWN:22986
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:UC002CZK.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36168,937,714 - 8,938,214 (-)MPROMDB
RGD ID:7231293
Promoter ID:EPDNEW_H21392
Type:initiation region
Name:USP7_1
Description:ubiquitin specific peptidase 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21391  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38168,963,456 - 8,963,516EPDNEW
RGD ID:6793589
Promoter ID:HG_KWN:22987
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003470
Position:
Human AssemblyChrPosition (strand)Source
Build 36168,964,731 - 8,965,457 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12630 AgrOrtholog
COSMIC USP7 COSMIC
Ensembl Genes ENSG00000187555 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000344836 ENTREZGENE
  ENST00000344836.9 UniProtKB/Swiss-Prot
  ENST00000381886 ENTREZGENE
  ENST00000381886.8 UniProtKB/Swiss-Prot
  ENST00000542333.5 UniProtKB/TrEMBL
  ENST00000563043.1 UniProtKB/TrEMBL
  ENST00000563085 ENTREZGENE
  ENST00000563085.5 UniProtKB/TrEMBL
  ENST00000563961.5 UniProtKB/TrEMBL
  ENST00000564117.1 UniProtKB/TrEMBL
  ENST00000565455.5 UniProtKB/TrEMBL
  ENST00000566004.5 UniProtKB/TrEMBL
  ENST00000566273.5 UniProtKB/TrEMBL
  ENST00000567692.1 UniProtKB/TrEMBL
  ENST00000569230.5 UniProtKB/TrEMBL
  ENST00000673704 ENTREZGENE
  ENST00000673704.1 UniProtKB/TrEMBL
Gene3D-CATH Cysteine proteinases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000187555 GTEx
HGNC ID HGNC:12630 ENTREZGENE
Human Proteome Map USP7 Human Proteome Map
InterPro MATH/TRAF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C19_UCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRAF-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP7_ICP0-binding_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7874 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7874 ENTREZGENE
OMIM 602519 OMIM
PANTHER BTB AND MATH DOMAIN-CONTAINING PROTEIN 36-RELATED UniProtKB/TrEMBL
  BTB AND MATH DOMAIN-CONTAINING PROTEIN 36-RELATED UniProtKB/TrEMBL
  UBIQUITIN CARBOXYL-TERMINAL HYDROLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UBIQUITIN CARBOXYL-TERMINAL HYDROLASE 7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MATH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP7_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP7_ICP0_bdg UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37255 PharmGKB
PROSITE MATH 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
SMART MATH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRAF domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A669KBL1_HUMAN UniProtKB/TrEMBL
  A6NMY8 ENTREZGENE
  B7Z815 ENTREZGENE
  B7Z855 ENTREZGENE, UniProtKB/TrEMBL
  B7ZAX6 ENTREZGENE, UniProtKB/TrEMBL
  F5H2X1_HUMAN UniProtKB/TrEMBL
  H0Y3G8 ENTREZGENE
  H3BMF6_HUMAN UniProtKB/TrEMBL
  H3BND8_HUMAN UniProtKB/TrEMBL
  H3BQD1_HUMAN UniProtKB/TrEMBL
  H3BRA2_HUMAN UniProtKB/TrEMBL
  H3BRI4_HUMAN UniProtKB/TrEMBL
  H3BTM1_HUMAN UniProtKB/TrEMBL
  H3BUV0_HUMAN UniProtKB/TrEMBL
  H3BVA7_HUMAN UniProtKB/TrEMBL
  I3L2D8_HUMAN UniProtKB/TrEMBL
  Q6U8A4_HUMAN UniProtKB/TrEMBL
  Q93009 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NMY8 UniProtKB/Swiss-Prot
  B7Z815 UniProtKB/Swiss-Prot
  H0Y3G8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-26 USP7  ubiquitin specific peptidase 7    ubiquitin specific peptidase 7 (herpes virus-associated)  Symbol and/or name change 5135510 APPROVED