USP9X (ubiquitin specific peptidase 9 X-linked) - Rat Genome Database

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Gene: USP9X (ubiquitin specific peptidase 9 X-linked) Homo sapiens
Analyze
Symbol: USP9X
Name: ubiquitin specific peptidase 9 X-linked
RGD ID: 1606030
HGNC Page HGNC
Description: Exhibits Lys48-specific deubiquitinase activity and co-SMAD binding activity. Involved in several processes, including generation of neurons; positive regulation of DNA demethylation; and transmembrane receptor protein serine/threonine kinase signaling pathway. Localizes to cytosol and growth cone. Implicated in female-restricted syndromic X-linked intellectual disability 99 and non-syndromic X-linked intellectual disability 99.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: deubiquitinating enzyme FAF-X; DFFRX; Drosophila fat facets related, X-linked; FAF; FAM; fat facets in mammals; fat facets protein related, X-linked; fat facets protein-related, X-linked; hFAM; MRX99; MRXS99F; probable ubiquitin carboxyl-terminal hydrolase FAF-X; RP5-1172N10.4; ubiquitin specific peptidase 9, X-linked; ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila); ubiquitin thioesterase FAF-X; ubiquitin thiolesterase FAF-X; ubiquitin-specific processing protease FAF-X; ubiquitin-specific protease 9, X chromosome; ubiquitin-specific-processing protease FAF-X
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: USP9YP7  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX41,085,445 - 41,236,579 (+)EnsemblGRCh38hg38GRCh38
GRCh38X41,085,420 - 41,236,579 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X40,944,698 - 41,095,832 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X40,829,832 - 40,980,776 (+)NCBINCBI36hg18NCBI36
CeleraX45,085,646 - 45,236,596 (+)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX38,676,295 - 38,826,441 (+)NCBIHuRef
CHM1_1X40,977,600 - 41,128,503 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
apical part of cell  (ISO)
cytoplasm  (IDA)
cytosol  (IBA,IDA,TAS)
growth cone  (IDA)
membrane  (HDA)
nucleus  (IBA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
1-minute APGAR score of 1  (IAGP)
2-3 toe syndactyly  (IAGP)
5-minute APGAR score of 5  (IAGP)
Abnormal cortical gyration  (IAGP)
Abnormal thyroid hormone level  (IAGP)
Abnormality of the abdominal wall  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the periodontium  (IAGP)
Abnormality of thyroid physiology  (IAGP)
Aggressive behavior  (IAGP)
Anal atresia  (IAGP)
Astigmatism  (IAGP)
Atrial septal defect  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Babinski sign  (IAGP)
Bifid uvula  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brachycephaly  (IAGP)
Brain atrophy  (IAGP)
Broad nasal tip  (IAGP)
Broad thumb  (IAGP)
Bulbous nose  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Choanal atresia  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 2nd toe  (IAGP)
Congenital hip dislocation  (IAGP)
Curly hair  (IAGP)
Curved fingers  (IAGP)
Cyst of the ductus choledochus  (IAGP)
Dandy-Walker malformation  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed puberty  (IAGP)
Delayed speech and language development  (IAGP)
Depigmentation/hyperpigmentation of skin  (IAGP)
Depressed nasal bridge  (IAGP)
Difficulty walking  (IAGP)
Downslanted palpebral fissures  (IAGP)
Drooling  (IAGP)
Facial asymmetry  (IAGP)
Facial palsy  (IAGP)
Feeding difficulties  (IAGP)
Flared nostrils  (IAGP)
Generalized hypotonia  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
Hallux valgus  (IAGP)
Hearing impairment  (IAGP)
High palate  (IAGP)
Hip dislocation  (IAGP)
Hip dysplasia  (IAGP)
Hydronephrosis  (IAGP)
Hyperextensible thumb  (IAGP)
Hypermetropia  (IAGP)
Hypertrichosis  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic nipples  (IAGP)
Hypotelorism  (IAGP)
Infantile muscular hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Joint laxity  (IAGP)
Limitation of joint mobility  (IAGP)
Long palpebral fissure  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Lower limb asymmetry  (IAGP)
Macrocephaly  (IAGP)
Meckel diverticulum  (IAGP)
Midface retrusion  (IAGP)
Mild neurosensory hearing impairment  (IAGP)
Misalignment of teeth  (IAGP)
Moderate sensorineural hearing impairment  (IAGP)
Myopia  (IAGP)
Narrow forehead  (IAGP)
Neoplasm  (IAGP)
Obesity  (IAGP)
Osteopenia  (IAGP)
Overlapping toe  (IAGP)
Patellar subluxation  (IAGP)
Patent ductus arteriosus  (IAGP)
Periorbital fullness  (IAGP)
Pes cavus  (IAGP)
Pes planus  (IAGP)
Poor speech  (IAGP)
Postaxial polydactyly  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent forehead  (IAGP)
Prominent nasolabial fold  (IAGP)
Prominent nose  (IAGP)
Pyloric stenosis  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent upper and lower respiratory tract infections  (IAGP)
Renal dysplasia  (IAGP)
Respiratory distress  (IAGP)
Sacral dimple  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short foot  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Shortening of all distal phalanges of the fingers  (IAGP)
Slender finger  (IAGP)
Small for gestational age  (IAGP)
Small hand  (IAGP)
Smooth philtrum  (IAGP)
Strabismus  (IAGP)
Tapered finger  (IAGP)
Telecanthus  (IAGP)
Thick lower lip vermilion  (IAGP)
Thick vermilion border  (IAGP)
Thin upper lip vermilion  (IAGP)
Thoracolumbar scoliosis  (IAGP)
Unilateral breast hypoplasia  (IAGP)
Upslanted palpebral fissure  (IAGP)
Urinary incontinence  (IAGP)
Wide nasal base  (IAGP)
Wide nasal bridge  (IAGP)
Widened subarachnoid space  (IAGP)
X-linked dominant inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:8619474   PMID:8922996   PMID:9110174   PMID:9722616   PMID:9827704   PMID:10620020   PMID:10737800   PMID:11278995   PMID:12477932   PMID:12617843   PMID:14676191   PMID:14742711  
PMID:14743216   PMID:15203218   PMID:15592455   PMID:15607950   PMID:15772651   PMID:16306228   PMID:16322459   PMID:16344560   PMID:16964243   PMID:17038327   PMID:17081983   PMID:17110338  
PMID:17267499   PMID:17353931   PMID:17500595   PMID:18254724   PMID:18303054   PMID:18410486   PMID:19135894   PMID:19341794   PMID:19380743   PMID:19508998   PMID:19913121   PMID:19946888  
PMID:20005844   PMID:20023629   PMID:20305814   PMID:20339350   PMID:20628086   PMID:20811636   PMID:21081666   PMID:21145461   PMID:21173155   PMID:21248063   PMID:21566062   PMID:21873635  
PMID:21907705   PMID:22065755   PMID:22371489   PMID:22544753   PMID:22586326   PMID:22699621   PMID:22863883   PMID:22895071   PMID:22939629   PMID:22952844   PMID:22990118   PMID:23097624  
PMID:23112048   PMID:23171055   PMID:23184937   PMID:23287719   PMID:23443559   PMID:23455922   PMID:23524849   PMID:23602568   PMID:23667531   PMID:23690623   PMID:23752268   PMID:23956138  
PMID:24163370   PMID:24239288   PMID:24255178   PMID:24337577   PMID:24366813   PMID:24591637   PMID:24607389   PMID:24711643   PMID:24785407   PMID:24841553   PMID:24890815   PMID:24991768  
PMID:25028367   PMID:25036637   PMID:25071155   PMID:25315684   PMID:25324306   PMID:25544563   PMID:25692226   PMID:25737280   PMID:25756610   PMID:25763846   PMID:25814533   PMID:25921289  
PMID:25944111   PMID:25963833   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26508657   PMID:26549023   PMID:26596467   PMID:26598551   PMID:26673895   PMID:26687479   PMID:26717875  
PMID:26748853   PMID:26833328   PMID:26921344   PMID:26972000   PMID:26979993   PMID:27120977   PMID:27317434   PMID:27374971   PMID:27432908   PMID:27462448   PMID:27517496   PMID:27593927  
PMID:27602765   PMID:27609421   PMID:27626314   PMID:27770309   PMID:27783990   PMID:27880917   PMID:28101374   PMID:28115363   PMID:28198367   PMID:28274596   PMID:28341829   PMID:28361952  
PMID:28377321   PMID:28378594   PMID:28498859   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28620049   PMID:28685749   PMID:28720576   PMID:28808228   PMID:28846114   PMID:29117863  
PMID:29121065   PMID:29130109   PMID:29183995   PMID:29228324   PMID:29229926   PMID:29248719   PMID:29346117   PMID:29378950   PMID:29416926   PMID:29449692   PMID:29490077   PMID:29507755  
PMID:29509190   PMID:29576527   PMID:29605299   PMID:29626158   PMID:29669289   PMID:29721084   PMID:29795372   PMID:29802200   PMID:29845934   PMID:29884807   PMID:29979702   PMID:29992764  
PMID:30021884   PMID:30118840   PMID:30166453   PMID:30209976   PMID:30224337   PMID:30258100   PMID:30338032   PMID:30478285   PMID:30584065   PMID:30619736   PMID:30689267   PMID:30718275  
PMID:30767316   PMID:30914461   PMID:30948266   PMID:30958800   PMID:31002345   PMID:31048545   PMID:31059266   PMID:31067491   PMID:31073027   PMID:31073040   PMID:31091453   PMID:31169265  
PMID:31197030   PMID:31285948   PMID:31340145   PMID:31443933   PMID:31462741   PMID:31512408   PMID:31570706   PMID:31586073   PMID:31605775   PMID:31620119   PMID:31671755   PMID:31685992  
PMID:31822558   PMID:31833203   PMID:31980649   PMID:31995728   PMID:32140098   PMID:32694731   PMID:32786267   PMID:33144569  


Genomics

Comparative Map Data
USP9X
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX41,085,445 - 41,236,579 (+)EnsemblGRCh38hg38GRCh38
GRCh38X41,085,420 - 41,236,579 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X40,944,698 - 41,095,832 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X40,829,832 - 40,980,776 (+)NCBINCBI36hg18NCBI36
CeleraX45,085,646 - 45,236,596 (+)NCBI
Cytogenetic MapXp11.4NCBI
HuRefX38,676,295 - 38,826,441 (+)NCBIHuRef
CHM1_1X40,977,600 - 41,128,503 (+)NCBICHM1_1
Usp9x
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X12,937,221 - 13,039,567 (+)NCBIGRCm39mm39
GRCm39 EnsemblX12,937,737 - 13,039,567 (+)Ensembl
GRCm38X13,070,982 - 13,173,328 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX13,071,498 - 13,173,328 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X12,648,624 - 12,750,454 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X12,228,496 - 12,328,745 (+)NCBImm8
CeleraX10,768,972 - 10,871,748 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX7.95NCBI
Usp9x
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X9,588,825 - 9,726,993 (-)NCBI
Rnor_6.0 EnsemblX10,510,033 - 10,630,297 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X10,510,033 - 10,660,555 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X11,308,415 - 11,458,704 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X21,606,330 - 21,718,042 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX10,119,391 - 10,226,802 (-)NCBICelera
Cytogenetic MapXq12NCBI
Usp9x
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555651,479,040 - 1,602,070 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555651,479,040 - 1,602,070 (-)NCBIChiLan1.0ChiLan1.0
USP9X
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X41,231,814 - 41,380,569 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX41,232,041 - 41,379,910 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X33,535,543 - 33,683,220 (+)NCBIMhudiblu_PPA_v0panPan3
USP9X
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X35,522,873 - 35,676,086 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX22,845,661 - 23,024,786 (+)NCBI
ROS_Cfam_1.0X35,571,563 - 35,712,343 (+)NCBI
UMICH_Zoey_3.1X35,624,905 - 35,803,984 (+)NCBI
UNSW_CanFamBas_1.0X35,597,545 - 35,776,521 (+)NCBI
UU_Cfam_GSD_1.0X35,640,469 - 35,819,595 (+)NCBI
Usp9x
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X27,780,903 - 27,894,664 (+)NCBI
SpeTri2.0NW_0049365027,649,808 - 7,732,731 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
USP9X
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX36,760,819 - 36,885,275 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X36,736,049 - 36,888,702 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
USP9X
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X38,255,414 - 38,402,855 (+)NCBI
ChlSab1.1 EnsemblX38,256,008 - 38,403,323 (+)Ensembl
Usp9x
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476214,403,361 - 14,527,854 (-)NCBI

Position Markers
STS-N26828  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,092,484 - 41,092,647UniSTSGRCh37
Build 36X40,977,428 - 40,977,591RGDNCBI36
CeleraX45,233,248 - 45,233,411RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,823,093 - 38,823,256UniSTS
GeneMap99-GB4 RH MapX128.51UniSTS
NCBI RH MapX142.2UniSTS
RH103992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,024,155 - 41,024,274UniSTSGRCh37
Build 36X40,909,099 - 40,909,218RGDNCBI36
CeleraX45,164,916 - 45,165,035RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,755,108 - 38,755,227UniSTS
GeneMap99-GB4 RH MapX124.05UniSTS
DXS7601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X40,997,667 - 40,997,808UniSTSGRCh37
Build 36X40,882,611 - 40,882,752RGDNCBI36
CeleraX45,138,429 - 45,138,570RGD
Cytogenetic MapXp11.4UniSTS
D20S998  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,091,791 - 41,091,910UniSTSGRCh37
Build 36X40,976,735 - 40,976,854RGDNCBI36
CeleraX45,232,555 - 45,232,674RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,822,400 - 38,822,519UniSTS
RH125670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,091,652 - 41,091,884UniSTSGRCh37
Build 36X40,976,596 - 40,976,828RGDNCBI36
CeleraX45,232,416 - 45,232,648RGD
HuRefX38,822,261 - 38,822,493UniSTS
WI-11070  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,092,801 - 41,092,982UniSTSGRCh37
Build 36X40,977,745 - 40,977,926RGDNCBI36
CeleraX45,233,565 - 45,233,746RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,823,410 - 38,823,591UniSTS
GeneMap99-GB4 RH MapX126.98UniSTS
Whitehead-RH MapX41.3UniSTS
NCBI RH MapX71.9UniSTS
RH47975  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,088,531 - 41,088,834UniSTSGRCh37
Build 36X40,973,475 - 40,973,778RGDNCBI36
CeleraX45,229,290 - 45,229,593RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,819,135 - 38,819,438UniSTS
GeneMap99-GB4 RH MapX114.44UniSTS
RH70211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X40,963,778 - 40,963,960UniSTSGRCh37
Build 36X40,848,722 - 40,848,904RGDNCBI36
CeleraX45,104,541 - 45,104,723RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,694,463 - 38,694,645UniSTS
GeneMap99-GB4 RH MapX124.36UniSTS
G34982  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,089,793 - 41,089,840UniSTSGRCh37
Build 36X40,974,737 - 40,974,784RGDNCBI36
CeleraX45,230,551 - 45,230,598RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,820,396 - 38,820,443UniSTS
DXS9725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,085,929 - 41,086,031UniSTSGRCh37
Build 36X40,970,873 - 40,970,975RGDNCBI36
CeleraX45,226,688 - 45,226,790RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,816,533 - 38,816,635UniSTS
Stanford-G3 RH MapX1472.0UniSTS
DXS1454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,062,185 - 41,062,254UniSTSGRCh37
Build 36X40,947,129 - 40,947,198RGDNCBI36
CeleraX45,202,944 - 45,203,013RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,793,134 - 38,793,203UniSTS
RH48141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,095,211 - 41,095,392UniSTSGRCh37
Build 36X40,980,155 - 40,980,336RGDNCBI36
CeleraX45,235,975 - 45,236,156RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,825,820 - 38,826,001UniSTS
GeneMap99-GB4 RH MapX124.05UniSTS
NCBI RH MapX139.3UniSTS
SHGC-34697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X40,963,911 - 40,964,044UniSTSGRCh37
Build 36X40,848,855 - 40,848,988RGDNCBI36
CeleraX45,104,674 - 45,104,807RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,694,596 - 38,694,729UniSTS
Stanford-G3 RH MapX1429.0UniSTS
GeneMap99-GB4 RH MapX125.18UniSTS
Whitehead-RH MapX41.4UniSTS
NCBI RH MapX142.0UniSTS
GeneMap99-G3 RH MapX623.0UniSTS
SGC30689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,092,790 - 41,092,916UniSTSGRCh37
Build 36X40,977,734 - 40,977,860RGDNCBI36
CeleraX45,233,554 - 45,233,680RGD
Cytogenetic MapXp11.4UniSTS
HuRefX38,823,399 - 38,823,525UniSTS
GeneMap99-GB4 RH MapX123.95UniSTS
Whitehead-RH MapX41.7UniSTS
NCBI RH MapX148.5UniSTS
DFFR  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,092,038 - 41,092,138UniSTSGRCh37
Build 36X40,976,982 - 40,977,082RGDNCBI36
CeleraX45,232,802 - 45,232,902RGD
USP9X_3261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,091,713 - 41,092,325UniSTSGRCh37
Build 36X40,976,657 - 40,977,269RGDNCBI36
CeleraX45,232,477 - 45,233,089RGD
HuRefX38,822,322 - 38,822,934UniSTS
PLP1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X41,075,480 - 41,075,576UniSTSGRCh37
Build 36X40,960,424 - 40,960,520RGDNCBI36
CeleraX45,216,239 - 45,216,335RGD
HuRefX38,806,039 - 38,806,135UniSTS
G49472  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp11.4UniSTS
D11S3316  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map7p15-p14UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q12-q13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map14q31UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2186
Count of miRNA genes:1082
Interacting mature miRNAs:1313
Transcripts:ENST00000324545, ENST00000378308, ENST00000462850, ENST00000463829, ENST00000465386, ENST00000467173, ENST00000485180, ENST00000487625
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2341 2267 1569 484 1611 333 4348 1916 2807 339 1425 1598 164 1199 2784 4
Low 98 724 157 140 340 132 8 281 926 80 35 15 11 1 5 4 1 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005272676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA261797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ012078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL391259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW183065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE925861 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX956755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD619095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA854185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X98296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000324545   ⟹   ENSP00000316357
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,085,635 - 41,236,579 (+)Ensembl
RefSeq Acc Id: ENST00000378308   ⟹   ENSP00000367558
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,085,445 - 41,236,579 (+)Ensembl
RefSeq Acc Id: ENST00000462850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,195,905 - 41,198,571 (+)Ensembl
RefSeq Acc Id: ENST00000463829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,188,066 - 41,189,922 (+)Ensembl
RefSeq Acc Id: ENST00000465386
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,183,994 - 41,184,740 (+)Ensembl
RefSeq Acc Id: ENST00000467173
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,167,145 - 41,168,242 (+)Ensembl
RefSeq Acc Id: ENST00000485180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,228,983 - 41,229,896 (+)Ensembl
RefSeq Acc Id: ENST00000487625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX41,205,059 - 41,210,654 (+)Ensembl
RefSeq Acc Id: NM_001039590   ⟹   NP_001034679
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,085,445 - 41,236,579 (+)NCBI
GRCh37X40,944,727 - 41,095,832 (+)NCBI
Build 36X40,829,832 - 40,980,776 (+)NCBI Archive
HuRefX38,676,295 - 38,826,441 (+)ENTREZGENE
CHM1_1X40,977,600 - 41,128,503 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001039591   ⟹   NP_001034680
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,085,445 - 41,236,579 (+)NCBI
GRCh37X40,944,727 - 41,095,832 (+)NCBI
Build 36X40,829,832 - 40,980,776 (+)NCBI Archive
HuRefX38,676,295 - 38,826,441 (+)ENTREZGENE
CHM1_1X40,977,600 - 41,128,503 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272675   ⟹   XP_005272732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,085,420 - 41,236,579 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005272676   ⟹   XP_005272733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X41,085,466 - 41,233,992 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001034679   ⟸   NM_001039590
- Peptide Label: isoform 3
- UniProtKB: Q93008 (UniProtKB/Swiss-Prot),   Q6P468 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001034680   ⟸   NM_001039591
- Peptide Label: isoform 4
- UniProtKB: Q93008 (UniProtKB/Swiss-Prot),   Q6P468 (UniProtKB/TrEMBL),   Q86X58 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005272732   ⟸   XM_005272675
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_005272733   ⟸   XM_005272676
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000316357   ⟸   ENST00000324545
RefSeq Acc Id: ENSP00000367558   ⟸   ENST00000378308
Protein Domains
USP

Promoters
RGD ID:6809383
Promoter ID:HG_KWN:66480
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:ENST00000378308,   NM_001039590,   NM_001039591
Position:
Human AssemblyChrPosition (strand)Source
Build 36X40,829,046 - 40,830,207 (+)MPROMDB
RGD ID:6809381
Promoter ID:HG_KWN:66481
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000056249
Position:
Human AssemblyChrPosition (strand)Source
Build 36X40,910,871 - 40,911,371 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001039591.3(USP9X):c.3609G>C (p.Gln1203His) single nucleotide variant not provided [RCV000523457] ChrX:41186567 [GRCh38]
ChrX:41045820 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.542A>T (p.His181Leu) single nucleotide variant not provided [RCV000519621] ChrX:41136910 [GRCh38]
ChrX:40996163 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_001039590.2(USP9X):c.394C>T (p.Leu132Phe) single nucleotide variant Malignant melanoma [RCV000073191] ChrX:41134796 [GRCh38]
ChrX:40994049 [GRCh37]
ChrX:40878993 [NCBI36]
ChrX:Xp11.4
not provided
NM_001039590.2(USP9X):c.4838C>T (p.Pro1613Leu) single nucleotide variant Malignant melanoma [RCV000073192] ChrX:41205316 [GRCh38]
ChrX:41064569 [GRCh37]
ChrX:40949513 [NCBI36]
ChrX:Xp11.4
not provided
NM_001039591.3(USP9X):c.44del (p.Asn15fs) deletion Mental retardation, X-linked 99, syndromic, female-restricted [RCV000660495] ChrX:41123671 [GRCh38]
ChrX:40982924 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.6278T>A (p.Leu2093His) single nucleotide variant Mental retardation, X-linked 99 [RCV000114949] ChrX:41218440 [GRCh38]
ChrX:41077693 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.7526del (p.Gln2509fs) deletion Mental retardation, X-linked 99 [RCV000114950] ChrX:41230595 [GRCh38]
ChrX:41089848 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.6469C>A (p.Leu2157Ile) single nucleotide variant not provided [RCV000114951] ChrX:41219135 [GRCh38]
ChrX:41078388 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.4469C>T (p.Pro1490Leu) single nucleotide variant Mental retardation, X-linked 99 [RCV000660636] ChrX:41198616 [GRCh38]
ChrX:41057869 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp11.4(chrX:40883294-41689223)x2 copy number gain See cases [RCV000135419] ChrX:40883294..41689223 [GRCh38]
ChrX:40742547..41548476 [GRCh37]
ChrX:40627491..41433420 [NCBI36]
ChrX:Xp11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001039591.3(USP9X):c.3028-2A>G single nucleotide variant Mental retardation, X-linked 99, syndromic, female-restricted [RCV000208717] ChrX:41171836 [GRCh38]
ChrX:41031089 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.1111C>T (p.Arg371Ter) single nucleotide variant Mental retardation, X-linked 99, syndromic, female-restricted [RCV000208723] ChrX:41141381 [GRCh38]
ChrX:41000634 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.2644_2645insA (p.Arg882fs) insertion Mental retardation, X-linked 99, syndromic, female-restricted [RCV000208730] ChrX:41170002..41170003 [GRCh38]
ChrX:41029255..41029256 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.2554C>T (p.Arg852Ter) single nucleotide variant Mental retardation, X-linked 99, syndromic, female-restricted [RCV000208736] ChrX:41168136 [GRCh38]
ChrX:41027389 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.3763C>T (p.Gln1255Ter) single nucleotide variant Mental retardation, X-linked 99, syndromic, female-restricted [RCV000208740] ChrX:41188070 [GRCh38]
ChrX:41047323 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.640C>G (p.Pro214Ala) single nucleotide variant not provided [RCV000224554] ChrX:41137008 [GRCh38]
ChrX:40996261 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001039591.3(USP9X):c.1161A>G (p.Ala387=) single nucleotide variant Inborn genetic diseases [RCV000622846] ChrX:41141431 [GRCh38]
ChrX:41000684 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001039591.3(USP9X):c.5047C>T (p.Gln1683Ter) single nucleotide variant Mental retardation, X-linked 99, syndromic, female-restricted [RCV000578171] ChrX:41210540 [GRCh38]
ChrX:41069793 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001039591.3(USP9X):c.1140G>A (p.Trp380Ter) single nucleotide variant not provided [RCV000359747] ChrX:41141410 [GRCh38]
ChrX:41000663 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.3149-8dup duplication not provided [RCV000514682] ChrX:41183983..41183984 [GRCh38]
ChrX:41043236..41043237 [GRCh37]
ChrX:Xp11.4
benign
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_001039591.3(USP9X):c.392T>A (p.Ile131Asn) single nucleotide variant not provided [RCV000489858] ChrX:41134794 [GRCh38]
ChrX:40994047 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001039591.3(USP9X):c.367G>A (p.Gly123Arg) single nucleotide variant Inborn genetic diseases [RCV000623407] ChrX:41134769 [GRCh38]
ChrX:40994022 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.1763+1G>A single nucleotide variant Inborn genetic diseases [RCV000623951] ChrX:41151058 [GRCh38]
ChrX:41010311 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001039591.3(USP9X):c.4756del (p.Ala1587fs) deletion Mental retardation, X-linked 99, syndromic, female-restricted [RCV000578420] ChrX:41201212 [GRCh38]
ChrX:41060465 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.5606_5607dup (p.Val1870fs) duplication not provided [RCV000599207] ChrX:41216171..41216172 [GRCh38]
ChrX:41075424..41075425 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.2224C>T (p.Arg742Ter) single nucleotide variant not provided [RCV000599617] ChrX:41166110 [GRCh38]
ChrX:41025363 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.1374G>A (p.Trp458Ter) single nucleotide variant not provided [RCV000522164] ChrX:41144581 [GRCh38]
ChrX:41003834 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.1327G>A (p.Glu443Lys) single nucleotide variant not provided [RCV000523561] ChrX:41144534 [GRCh38]
ChrX:41003787 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.3756G>T (p.Gly1252=) single nucleotide variant not specified [RCV000614988] ChrX:41188063 [GRCh38]
ChrX:41047316 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.5273T>A (p.Val1758Asp) single nucleotide variant not provided [RCV000656272] ChrX:41214651 [GRCh38]
ChrX:41073904 [GRCh37]
ChrX:Xp11.4
pathogenic
NC_000023.10:g.(?_39911342)_(41782261_?)dup duplication Mental retardation, X-linked, syndromic, Hedera type [RCV000640920] ChrX:39911342..41782261 [GRCh37]
ChrX:Xp11.4
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001039591.3(USP9X):c.5339_5340del (p.Thr1780fs) deletion Severe intellectual deficiency [RCV000415029] ChrX:41215906..41215907 [GRCh38]
ChrX:41075159..41075160 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001039591.3(USP9X):c.2614A>G (p.Arg872Gly) single nucleotide variant not provided [RCV000732677] ChrX:41168196 [GRCh38]
ChrX:41027449 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.2663T>G (p.Phe888Cys) single nucleotide variant Mental retardation, X-linked 99 [RCV000723354] ChrX:41170021 [GRCh38]
ChrX:41029274 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.5920A>G (p.Ile1974Val) single nucleotide variant not provided [RCV000976113]|not specified [RCV000736070] ChrX:41216487 [GRCh38]
ChrX:41075740 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_001039591.3(USP9X):c.517_519CTT[1] (p.Leu174del) microsatellite not provided [RCV000413770] ChrX:41136885..41136887 [GRCh38]
ChrX:40996138..40996140 [GRCh37]
ChrX:Xp11.4
likely pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_001039591.3(USP9X):c.5134A>C (p.Lys1712Gln) single nucleotide variant not specified [RCV000413660] ChrX:41210627 [GRCh38]
ChrX:41069880 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.2876C>A (p.Ser959Ter) single nucleotide variant not provided [RCV000413876] ChrX:41170234 [GRCh38]
ChrX:41029487 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001039591.3(USP9X):c.5595del (p.Val1866fs) deletion Dysmorphic features [RCV000505256] ChrX:41216161 [GRCh38]
ChrX:41075414 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001039591.3(USP9X):c.6084C>T (p.Pro2028=) single nucleotide variant not provided [RCV000425107] ChrX:41216651 [GRCh38]
ChrX:41075904 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_001039591.3(USP9X):c.562A>G (p.Asn188Asp) single nucleotide variant not provided [RCV000428274] ChrX:41136930 [GRCh38]
ChrX:40996183 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001039591.3(USP9X):c.1315-4A>G single nucleotide variant Mental retardation, X-linked 99 [RCV001329531]|not provided [RCV000430135] ChrX:41144518 [GRCh38]
ChrX:41003771 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001039591.3(USP9X):c.643C>T (p.Arg215Ter) single nucleotide variant not provided [RCV000431532] ChrX:41137011 [GRCh38]
ChrX:40996264 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp21.1-11.3(chrX:36667388-44316141)x1 copy number loss See cases [RCV000446005] ChrX:36667388..44316141 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_001039591.3(USP9X):c.367G>T (p.Gly123Trp) single nucleotide variant not provided [RCV000426707] ChrX:41134769 [GRCh38]
ChrX:40994022 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.4-11.3(chrX:40933552-45379179)x2 copy number gain See cases [RCV000448864] ChrX:40933552..45379179 [GRCh37]
ChrX:Xp11.4-11.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001039591.3(USP9X):c.1303T>C (p.Trp435Arg) single nucleotide variant not provided [RCV000482190] ChrX:41143432 [GRCh38]
ChrX:41002685 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001039591.3(USP9X):c.7431+9dup duplication Mental retardation, X-linked 99 [RCV001333670]|USP9X related disorders [RCV000509263]|not provided [RCV000483382]|not specified [RCV000502528] ChrX:41229781..41229782 [GRCh38]
ChrX:41089034..41089035 [GRCh37]
ChrX:Xp11.4
pathogenic|uncertain significance|not provided
NM_001039591.3(USP9X):c.5216C>A (p.Thr1739Asn) single nucleotide variant not provided [RCV000483949] ChrX:41214594 [GRCh38]
ChrX:41073847 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001039591.3(USP9X):c.3431G>A (p.Arg1144Gln) single nucleotide variant not provided [RCV000486474] ChrX:41184548 [GRCh38]
ChrX:41043801 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.7207C>T (p.Gln2403Ter) single nucleotide variant not provided [RCV000480003] ChrX:41229398 [GRCh38]
ChrX:41088651 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.6365_6366del (p.Phe2122fs) deletion not provided [RCV000487109] ChrX:41218526..41218527 [GRCh38]
ChrX:41077779..41077780 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001039591.3(USP9X):c.3622C>T (p.Pro1208Ser) single nucleotide variant not provided [RCV000494285] ChrX:41186580 [GRCh38]
ChrX:41045833 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001039591.3(USP9X):c.4603+19A>G single nucleotide variant not provided [RCV000514923] ChrX:41198769 [GRCh38]
ChrX:41058022 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.286G>T (p.Val96Leu) single nucleotide variant not provided [RCV000514771] ChrX:41131500 [GRCh38]
ChrX:40990753 [GRCh37]
ChrX:Xp11.4
benign|likely benign
NM_001039591.3(USP9X):c.911A>T (p.Asn304Ile) single nucleotide variant Inborn genetic diseases [RCV000622449] ChrX:41141106 [GRCh38]
ChrX:41000359 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.5683A>G (p.Asn1895Asp) single nucleotide variant Inborn genetic diseases [RCV000623430] ChrX:41216250 [GRCh38]
ChrX:41075503 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.6034T>A (p.Phe2012Ile) single nucleotide variant Inborn genetic diseases [RCV000624231] ChrX:41216601 [GRCh38]
ChrX:41075854 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser) single nucleotide variant Inborn genetic diseases [RCV000624015]|Mental retardation, X-linked 99 [RCV000766093] ChrX:41196668 [GRCh38]
ChrX:41055921 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.6794C>T (p.Ser2265Leu) single nucleotide variant Inborn genetic diseases [RCV000624716] ChrX:41224784 [GRCh38]
ChrX:41084037 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
NM_001039591.3(USP9X):c.6799C>T (p.Pro2267Ser) single nucleotide variant not provided [RCV000512839] ChrX:41224789 [GRCh38]
ChrX:41084042 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.5395C>T (p.Arg1799Ter) single nucleotide variant not provided [RCV000514823] ChrX:41215962 [GRCh38]
ChrX:41075215 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001039591.3(USP9X):c.420G>T (p.Trp140Cys) single nucleotide variant not provided [RCV000659153] ChrX:41134822 [GRCh38]
ChrX:40994075 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001039591.3(USP9X):c.3304G>A (p.Ala1102Thr) single nucleotide variant Mental retardation, X-linked 99, syndromic, female-restricted [RCV000662207] ChrX:41184421 [GRCh38]
ChrX:41043674 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.1877G>A (p.Ser626Asn) single nucleotide variant Mental retardation, X-linked 99 [RCV000681662] ChrX:41153061 [GRCh38]
ChrX:41012314 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001039591.3(USP9X):c.2637-9T>C single nucleotide variant not provided [RCV000918267] ChrX:41169986 [GRCh38]
ChrX:41029239 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.6209+6T>G single nucleotide variant not provided [RCV000891870] ChrX:41217349 [GRCh38]
ChrX:41076602 [GRCh37]
ChrX:Xp11.4
benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_001039591.3(USP9X):c.671T>C (p.Leu224Pro) single nucleotide variant Mental retardation, X-linked 99 [RCV000760229] ChrX:41140672 [GRCh38]
ChrX:40999925 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001039591.3(USP9X):c.2779G>A (p.Val927Ile) single nucleotide variant not provided [RCV000762622] ChrX:41170137 [GRCh38]
ChrX:41029390 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.4406C>T (p.Pro1469Leu) single nucleotide variant not provided [RCV000999401] ChrX:41198553 [GRCh38]
ChrX:41057806 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001039591.3(USP9X):c.7431+40G>A single nucleotide variant not provided [RCV000879773] ChrX:41229819 [GRCh38]
ChrX:41089072 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.695A>G (p.Asn232Ser) single nucleotide variant not provided [RCV000929225] ChrX:41140696 [GRCh38]
ChrX:40999949 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.5718A>G (p.Thr1906=) single nucleotide variant not provided [RCV000884921] ChrX:41216285 [GRCh38]
ChrX:41075538 [GRCh37]
ChrX:Xp11.4
benign
NM_001039591.3(USP9X):c.5394G>A (p.Lys1798=) single nucleotide variant not provided [RCV000925400] ChrX:41215961 [GRCh38]
ChrX:41075214 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.4233+8T>G single nucleotide variant not provided [RCV000922937] ChrX:41196746 [GRCh38]
ChrX:41055999 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.6993T>C (p.Tyr2331=) single nucleotide variant not provided [RCV000922938] ChrX:41225069 [GRCh38]
ChrX:41084322 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.4812G>A (p.Lys1604=) single nucleotide variant not provided [RCV000905028] ChrX:41201268 [GRCh38]
ChrX:41060521 [GRCh37]
ChrX:Xp11.4
benign
NM_001039591.3(USP9X):c.2820G>T (p.Leu940=) single nucleotide variant not provided [RCV000981547] ChrX:41170178 [GRCh38]
ChrX:41029431 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.5898A>T (p.Ile1966=) single nucleotide variant not provided [RCV000893413] ChrX:41216465 [GRCh38]
ChrX:41075718 [GRCh37]
ChrX:Xp11.4
benign
NM_001039591.3(USP9X):c.369G>A (p.Gly123=) single nucleotide variant not provided [RCV000981237] ChrX:41134771 [GRCh38]
ChrX:40994024 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.6516G>A (p.Gly2172=) single nucleotide variant not provided [RCV000902205] ChrX:41219182 [GRCh38]
ChrX:41078435 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.6105T>C (p.Pro2035=) single nucleotide variant not provided [RCV000922496] ChrX:41217239 [GRCh38]
ChrX:41076492 [GRCh37]
ChrX:Xp11.4
benign
NM_001039591.3(USP9X):c.3028-7A>G single nucleotide variant not provided [RCV000880535] ChrX:41171831 [GRCh38]
ChrX:41031084 [GRCh37]
ChrX:Xp11.4
benign
NM_001039591.3(USP9X):c.2004T>A (p.Gly668=) single nucleotide variant not provided [RCV000904824] ChrX:41165890 [GRCh38]
ChrX:41025143 [GRCh37]
ChrX:Xp11.4
benign
NM_001039591.3(USP9X):c.7522C>T (p.Gln2508Ter) single nucleotide variant not provided [RCV001051324] ChrX:41230591 [GRCh38]
ChrX:41089844 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001039591.3(USP9X):c.4291dup (p.Leu1431fs) duplication Intellectual disability [RCV001030991] ChrX:41197419..41197420 [GRCh38]
ChrX:41056672..41056673 [GRCh37]
ChrX:Xp11.4
pathogenic|likely pathogenic
NM_001039591.3(USP9X):c.3280-10A>G single nucleotide variant not provided [RCV000923454] ChrX:41184387 [GRCh38]
ChrX:41043640 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.3039G>C (p.Leu1013=) single nucleotide variant not provided [RCV000906966] ChrX:41171849 [GRCh38]
ChrX:41031102 [GRCh37]
ChrX:Xp11.4
benign
NM_001039591.3(USP9X):c.7470G>A (p.Ser2490=) single nucleotide variant not provided [RCV000922881] ChrX:41230539 [GRCh38]
ChrX:41089792 [GRCh37]
ChrX:Xp11.4
benign
NM_001039591.3(USP9X):c.1944T>C (p.Tyr648=) single nucleotide variant not provided [RCV000885753] ChrX:41162836 [GRCh38]
ChrX:41022089 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.4068A>G (p.Leu1356=) single nucleotide variant not provided [RCV000938241] ChrX:41196341 [GRCh38]
ChrX:41055594 [GRCh37]
ChrX:Xp11.4
likely benign
NC_000023.11:g.(?_41165872)_(41167577_?)del deletion not provided [RCV000823254] ChrX:41165872..41167577 [GRCh38]
ChrX:41025125..41026830 [GRCh37]
ChrX:Xp11.4
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001039591.3(USP9X):c.2637-9T>G single nucleotide variant not provided [RCV000827608] ChrX:41169986 [GRCh38]
ChrX:41029239 [GRCh37]
ChrX:Xp11.4
likely benign
GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1 copy number loss not provided [RCV001007291] ChrX:32849282..43713387 [GRCh37]
ChrX:Xp21.1-11.3
pathogenic
NM_001039591.3(USP9X):c.3892T>C (p.Leu1298=) single nucleotide variant not provided [RCV000999400] ChrX:41189390 [GRCh38]
ChrX:41048643 [GRCh37]
ChrX:Xp11.4
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_001039591.3(USP9X):c.993A>G (p.Leu331=) single nucleotide variant not provided [RCV000999398] ChrX:41141188 [GRCh38]
ChrX:41000441 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001039591.3(USP9X):c.3503G>A (p.Arg1168Gln) single nucleotide variant not provided [RCV000999399] ChrX:41184620 [GRCh38]
ChrX:41043873 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001039591.3(USP9X):c.5416A>G (p.Arg1806Gly) single nucleotide variant not provided [RCV001224178] ChrX:41215983 [GRCh38]
ChrX:41075236 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.6075C>T (p.Asn2025=) single nucleotide variant Mental retardation, X-linked 99 [RCV001198051] ChrX:41216642 [GRCh38]
ChrX:41075895 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_001039591.3(USP9X):c.3050A>G (p.Tyr1017Cys) single nucleotide variant not provided [RCV001093489] ChrX:41171860 [GRCh38]
ChrX:41031113 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.1160C>T (p.Ala387Val) single nucleotide variant USP9X-related neurodevelopmental disorder [RCV001249758] ChrX:41141430 [GRCh38]
ChrX:41000683 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.4155C>T (p.Tyr1385=) single nucleotide variant not provided [RCV000918828] ChrX:41196660 [GRCh38]
ChrX:41055913 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.3666T>C (p.Ala1222=) single nucleotide variant not provided [RCV000896592] ChrX:41186624 [GRCh38]
ChrX:41045877 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.5634G>A (p.Gly1878=) single nucleotide variant not provided [RCV000931101] ChrX:41216201 [GRCh38]
ChrX:41075454 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.3408A>G (p.Leu1136=) single nucleotide variant not provided [RCV000903383] ChrX:41184525 [GRCh38]
ChrX:41043778 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.5001T>C (p.Phe1667=) single nucleotide variant not provided [RCV000886250] ChrX:41205479 [GRCh38]
ChrX:41064732 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.4749C>T (p.Asn1583=) single nucleotide variant not provided [RCV000970387] ChrX:41201205 [GRCh38]
ChrX:41060458 [GRCh37]
ChrX:Xp11.4
benign
NM_001039591.3(USP9X):c.81C>G (p.Pro27=) single nucleotide variant not provided [RCV000926150] ChrX:41123709 [GRCh38]
ChrX:40982962 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.595A>G (p.Ser199Gly) single nucleotide variant not provided [RCV000895570] ChrX:41136963 [GRCh38]
ChrX:40996216 [GRCh37]
ChrX:Xp11.4
benign
NM_001039591.3(USP9X):c.4668C>T (p.Phe1556=) single nucleotide variant not provided [RCV000880195] ChrX:41201124 [GRCh38]
ChrX:41060377 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.7218+6G>C single nucleotide variant not provided [RCV000922183] ChrX:41229415 [GRCh38]
ChrX:41088668 [GRCh37]
ChrX:Xp11.4
benign
NM_001039591.3(USP9X):c.5671G>C (p.Asp1891His) single nucleotide variant Mental retardation, X-linked 99 [RCV001249400] ChrX:41216238 [GRCh38]
ChrX:41075491 [GRCh37]
ChrX:Xp11.4
not provided
NM_001039591.3(USP9X):c.6004C>T (p.Arg2002Ter) single nucleotide variant Mental retardation, X-linked 99, syndromic, female-restricted [RCV001264738] ChrX:41216571 [GRCh38]
ChrX:41075824 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.1778G>C (p.Ser593Thr) single nucleotide variant not provided [RCV001093488] ChrX:41152962 [GRCh38]
ChrX:41012215 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.260del (p.Pro87fs) deletion Mental retardation, X-linked 99 [RCV001007953] ChrX:41131473 [GRCh38]
ChrX:40990726 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.6360A>G (p.Ile2120Met) single nucleotide variant not provided [RCV001093491] ChrX:41218522 [GRCh38]
ChrX:41077775 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.4563T>G (p.Asp1521Glu) single nucleotide variant not provided [RCV001171626] ChrX:41198710 [GRCh38]
ChrX:41057963 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.437G>A (p.Arg146Lys) single nucleotide variant not specified [RCV001199916] ChrX:41136805 [GRCh38]
ChrX:40996058 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.802C>T (p.Leu268Phe) single nucleotide variant not provided [RCV001200318] ChrX:41140997 [GRCh38]
ChrX:41000250 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4(chrX:40854391-41080779)x3 copy number gain not provided [RCV001007296] ChrX:40854391..41080779 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.5272G>A (p.Val1758Ile) single nucleotide variant not provided [RCV001171588] ChrX:41214650 [GRCh38]
ChrX:41073903 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.4118del (p.Gly1373fs) deletion not provided [RCV001093490] ChrX:41196622 [GRCh38]
ChrX:41055875 [GRCh37]
ChrX:Xp11.4
pathogenic
NC_000023.10:g.(?_30326313)_(41000684_?)del deletion Ornithine carbamoyltransferase deficiency [RCV001033914] ChrX:30326313..41000684 [GRCh37]
ChrX:Xp21.2-11.4
pathogenic
NM_001039591.3(USP9X):c.1282T>G (p.Leu428Val) single nucleotide variant Mental retardation, X-linked 99 [RCV001197983] ChrX:41143411 [GRCh38]
ChrX:41002664 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.4817A>G (p.Asp1606Gly) single nucleotide variant Mental retardation, X-linked 99, syndromic, female-restricted [RCV001194645] ChrX:41201273 [GRCh38]
ChrX:41060526 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.6458dup (p.Ser2153fs) duplication Mental retardation, X-linked 99, syndromic, female-restricted [RCV001264724] ChrX:41219123..41219124 [GRCh38]
ChrX:41078376..41078377 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.323-1G>C single nucleotide variant Mental retardation, X-linked 99, syndromic, female-restricted [RCV001253520] ChrX:41134724 [GRCh38]
ChrX:40993977 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001039591.3(USP9X):c.1764-6T>G single nucleotide variant Intellectual disability [RCV001260848] ChrX:41152942 [GRCh38]
ChrX:41012195 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.6611del (p.Thr2204fs) deletion Inborn genetic diseases [RCV001266544] ChrX:41223262 [GRCh38]
ChrX:41082515 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.7382A>G (p.His2461Arg) single nucleotide variant Inborn genetic diseases [RCV001267019] ChrX:41229730 [GRCh38]
ChrX:41088983 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.5634dup (p.His1879fs) duplication Inborn genetic diseases [RCV001267602] ChrX:41216195..41216196 [GRCh38]
ChrX:41075448..41075449 [GRCh37]
ChrX:Xp11.4
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001039591.3(USP9X):c.766A>G (p.Ile256Val) single nucleotide variant Seizures [RCV001256160] ChrX:41140767 [GRCh38]
ChrX:41000020 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.4885G>C (p.Ala1629Pro) single nucleotide variant Inborn genetic diseases [RCV001266990] ChrX:41205363 [GRCh38]
ChrX:41064616 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.982_983del (p.Thr327_Val328insTer) deletion Inborn genetic diseases [RCV001267108] ChrX:41141176..41141177 [GRCh38]
ChrX:41000429..41000430 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.3491A>G (p.Tyr1164Cys) single nucleotide variant Inborn genetic diseases [RCV001267115] ChrX:41184608 [GRCh38]
ChrX:41043861 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.2877+5G>A single nucleotide variant Intellectual disability [RCV001260799] ChrX:41170240 [GRCh38]
ChrX:41029493 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.2638G>A (p.Ala880Thr) single nucleotide variant Mental retardation, X-linked 99 [RCV001262559] ChrX:41169996 [GRCh38]
ChrX:41029249 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.2147del (p.Asn716fs) deletion not provided [RCV001268178] ChrX:41166032 [GRCh38]
ChrX:41025285 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.6194del (p.Gly2065fs) deletion not provided [RCV001268586] ChrX:41217327 [GRCh38]
ChrX:41076580 [GRCh37]
ChrX:Xp11.4
likely pathogenic
NM_001039591.3(USP9X):c.4703T>C (p.Met1568Thr) single nucleotide variant Inborn genetic diseases [RCV001267541] ChrX:41201159 [GRCh38]
ChrX:41060412 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.7424C>T (p.Pro2475Leu) single nucleotide variant Inborn genetic diseases [RCV001266144] ChrX:41229772 [GRCh38]
ChrX:41089025 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.224T>G (p.Leu75Trp) single nucleotide variant Intellectual disability [RCV001260818] ChrX:41129127 [GRCh38]
ChrX:40988380 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.4829A>G (p.Asn1610Ser) single nucleotide variant Mental retardation, X-linked 99 [RCV001330162] ChrX:41205307 [GRCh38]
ChrX:41064560 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.7366T>C (p.Phe2456Leu) single nucleotide variant Mental retardation, X-linked 99 [RCV001330164] ChrX:41229714 [GRCh38]
ChrX:41088967 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000) copy number loss Cardiomyopathy [RCV001352652] ChrX:39645568..44199000 [GRCh37]
ChrX:Xp11.4-11.3
pathogenic
NM_001039591.3(USP9X):c.3797A>C (p.Lys1266Thr) single nucleotide variant Mental retardation, X-linked 99 [RCV001312194] ChrX:41188104 [GRCh38]
ChrX:41047357 [GRCh37]
ChrX:Xp11.4
likely benign
NM_001039591.3(USP9X):c.2888C>A (p.Ala963Asp) single nucleotide variant Mental retardation, X-linked 99 [RCV001330161] ChrX:41170480 [GRCh38]
ChrX:41029733 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.986A>C (p.Lys329Thr) single nucleotide variant Mental retardation, X-linked 99 [RCV001330165] ChrX:41141181 [GRCh38]
ChrX:41000434 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.1986-5dup duplication Mental retardation, X-linked 99 [RCV001337113] ChrX:41165861..41165862 [GRCh38]
ChrX:41025114..41025115 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.2891A>G (p.Lys964Arg) single nucleotide variant not provided [RCV001343340] ChrX:41170483 [GRCh38]
ChrX:41029736 [GRCh37]
ChrX:Xp11.4
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_001039591.3(USP9X):c.3410C>T (p.Pro1137Leu) single nucleotide variant Mental retardation, X-linked 99 [RCV001270396] ChrX:41184527 [GRCh38]
ChrX:41043780 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.6359T>C (p.Ile2120Thr) single nucleotide variant Mental retardation, X-linked 99 [RCV001330163] ChrX:41218521 [GRCh38]
ChrX:41077774 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.2026C>T (p.Gln676Ter) single nucleotide variant Mental retardation, X-linked 99 [RCV001337114] ChrX:41165912 [GRCh38]
ChrX:41025165 [GRCh37]
ChrX:Xp11.4
pathogenic
NM_001039591.3(USP9X):c.1782C>G (p.Pro594=) single nucleotide variant Mental retardation, X-linked 99, syndromic, female-restricted [RCV001329534] ChrX:41152966 [GRCh38]
ChrX:41012219 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.131C>T (p.Pro44Leu) single nucleotide variant Mental retardation, X-linked 99 [RCV001329532] ChrX:41129034 [GRCh38]
ChrX:40988287 [GRCh37]
ChrX:Xp11.4
uncertain significance
NM_001039591.3(USP9X):c.1700T>C (p.Ile567Thr) single nucleotide variant Mental retardation, X-linked 99 [RCV001329533] ChrX:41150994 [GRCh38]
ChrX:41010247 [GRCh37]
ChrX:Xp11.4
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12632 AgrOrtholog
COSMIC USP9X COSMIC
Ensembl Genes ENSG00000124486 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000316357 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000367558 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000324545 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000378308 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000124486 GTEx
HGNC ID HGNC:12632 ENTREZGENE
Human Proteome Map USP9X Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF3517 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Papain-like_cys_pep_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_C19_UCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP9X UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8239 ENTREZGENE
OMIM 300072 OMIM
  300919 OMIM
  300968 OMIM
PANTHER PTHR24006:SF777 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF3517 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  UCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37257 PharmGKB
PROSITE USP_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  USP_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54001 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D3DWB6_HUMAN UniProtKB/TrEMBL
  Q6P468 ENTREZGENE, UniProtKB/TrEMBL
  Q86X58 ENTREZGENE, UniProtKB/TrEMBL
  Q93008 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O75550 UniProtKB/Swiss-Prot
  Q8WWT3 UniProtKB/Swiss-Prot
  Q8WX12 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 USP9X  ubiquitin specific peptidase 9 X-linked  USP9X  ubiquitin specific peptidase 9, X-linked  Symbol and/or name change 5135510 APPROVED