This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq,... See more...

Aliases for USP9X Gene

Aliases for USP9X Gene

  • Ubiquitin Specific Peptidase 9 X-Linked 2 3 5
  • DFFRX 2 3 4
  • Ubiquitin Specific Protease 9, X Chromosome (Fat Facets-Like Drosophila) 2 3
  • Probable Ubiquitin Carboxyl-Terminal Hydrolase FAF-X 3 4
  • Ubiquitin-Specific Protease 9, X Chromosome 3 4
  • Deubiquitinating Enzyme FAF-X 3 4
  • Ubiquitin Thioesterase FAF-X 3 4
  • Fat Facets In Mammals 3 4
  • MRX99 2 3
  • HFAM 3 4
  • FAF 2 3
  • FAM 3 4
  • Ubiquitin Specific Peptidase 9, X-Linked (Fat Facets-Like, Drosophila) 2
  • Ubiquitin Specific Protease 9, X-Linked (Fat Facets-Like, Drosophila) 2
  • Ubiquitin-Specific Processing Protease FAF-X 3
  • Ubiquitin-Specific-Processing Protease FAF-X 4
  • Drosophila Fat Facets Related, X-Linked 3
  • Fat Facets Protein Related, X-Linked 3
  • Fat Facets Protein-Related, X-Linked 4
  • Ubiquitin Thiolesterase FAF-X 3
  • EC 3.4.19.12 4
  • EC 3.1.2.15 50
  • MRXS99F 3
  • USP9X 5
  • USP9 4

External Ids for USP9X Gene

Previous GeneCards Identifiers for USP9X Gene

  • GC0XP039009
  • GC0XP039231
  • GC0XP039827
  • GC0XP040013
  • GC0XP040739
  • GC0XP040829
  • GC0XP040944
  • GC0XP038676

Summaries for USP9X Gene

Entrez Gene Summary for USP9X Gene

  • This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for USP9X Gene

USP9X (Ubiquitin Specific Peptidase 9 X-Linked) is a Protein Coding gene. Diseases associated with USP9X include Mental Retardation, X-Linked 99, Syndromic, Female-Restricted and Mental Retardation, X-Linked 99. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include binding and cysteine-type peptidase activity. An important paralog of this gene is USP9Y.

UniProtKB/Swiss-Prot Summary for USP9X Gene

  • Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Specifically hydrolyzes 'Lys-48'-, 'Lys-29'- and 'Lys-33'-linked polyubiquitins chains. Essential component of TGF-beta/BMP signaling cascade. Specifically deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Deubiquitinates alkylation repair enzyme ALKBH3. OTUD4 recruits USP7 and USP9X to stabilize ALKBH3, thereby promoting the repair of alkylated DNA lesions (PubMed:25944111). Regulates chromosome alignment and segregation in mitosis by regulating the localization of BIRC5/survivin to mitotic centromeres. Involved in axonal growth and neuronal cell migration (PubMed:16322459, PubMed:18254724, PubMed:19135894, PubMed:24607389). Regulates cellular clock function by enhancing the protein stability and transcriptional activity of the core circadian protein ARNTL/BMAL1 via its deubiquitinating activity (PubMed:29626158).

Gene Wiki entry for USP9X Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USP9X Gene

Genomics for USP9X Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for USP9X Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USP9X on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USP9X

Top Transcription factor binding sites by QIAGEN in the USP9X gene promoter:
  • aMEF-2
  • c-Ets-1
  • Egr-1
  • Egr-4
  • Ik-2
  • MEF-2
  • Meis-1
  • Meis-1a
  • Meis-1b
  • RORalpha1

Genomic Locations for USP9X Gene

Latest Assembly
chrX:41,085,420-41,236,579
(GRCh38/hg38)
Size:
151,160 bases
Orientation:
Plus strand

Previous Assembly
chrX:40,944,698-41,095,832
(GRCh37/hg19 by Entrez Gene)
Size:
151,135 bases
Orientation:
Plus strand

chrX:40,944,888-41,095,832
(GRCh37/hg19 by Ensembl)
Size:
150,945 bases
Orientation:
Plus strand

Genomic View for USP9X Gene

Genes around USP9X on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USP9X Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USP9X Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USP9X Gene

Proteins for USP9X Gene

  • Protein details for USP9X Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q93008-USP9X_HUMAN
    Recommended name:
    Probable ubiquitin carboxyl-terminal hydrolase FAF-X
    Protein Accession:
    Q93008
    Secondary Accessions:
    • O75550
    • Q8WWT3
    • Q8WX12

    Protein attributes for USP9X Gene

    Size:
    2554 amino acids
    Molecular mass:
    290463 Da
    Quaternary structure:
    • Interacts with SMAD4, MARK4, NUAK1 and BIRC5/survivin. Interacts with DCX. Interacts with OTUD4 and USP7; the interaction is direct (PubMed:25944111). Interacts with ARNTL/BMAL1 (PubMed:29626158).
    Miscellaneous:
    • Escapes X-inactivation.

    Three dimensional structures from OCA and Proteopedia for USP9X Gene

    Alternative splice isoforms for USP9X Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for USP9X Gene

Selected DME Specific Peptides for USP9X Gene

Q93008:
  • GLKNAGATCYMNSV
  • FLLKDGQLWLCA
  • INKDFFE
  • AQAGKHEAIVKNVHDLLAKLAWDF
  • GEPVNLREQ
  • FRLKMILRLLQ
  • HYQKRAYQ
  • PRWVVPVLP
  • IQQLYMIP
  • CAIKFNDYFEFPR
  • LLELIRRLAEDDK
  • YRRQKRWWNAY
  • PFGQCYE
  • KCFERFFKAVN
  • DSLHQPQYVEKLEKI
  • KILDYSCSQ

Post-translational modifications for USP9X Gene

  • Ubiquitination at Lys329, Lys1045, Lys1370, Lys1627, Lys1632, Lys1712, Lys1798, Lys1862, and Lys2301
  • Modification sites at PhosphoSitePlus

Other Protein References for USP9X Gene

Domains & Families for USP9X Gene

Gene Families for USP9X Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for USP9X Gene

InterPro:
Blocks:
  • Ubiquitin thiolesterase, family 2

Suggested Antigen Peptide Sequences for USP9X Gene

GenScript: Design optimal peptide antigens:
  • Ubiquitin carboxyl-terminal hydrolase (D3DWB6_HUMAN)
  • USP9X protein (Q6P468_HUMAN)
  • USP9X protein (Q86X58_HUMAN)
  • Ubiquitin-specific-processing protease FAF-X (USP9X_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q93008

UniProtKB/Swiss-Prot:

USP9X_HUMAN :
  • Belongs to the peptidase C19 family.
Family:
  • Belongs to the peptidase C19 family.
genes like me logo Genes that share domains with USP9X: view

Function for USP9X Gene

Molecular function for USP9X Gene

UniProtKB/Swiss-Prot Function:
Deubiquitinase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. May therefore play an important regulatory role at the level of protein turnover by preventing degradation of proteins through the removal of conjugated ubiquitin. Specifically hydrolyzes 'Lys-48'-, 'Lys-29'- and 'Lys-33'-linked polyubiquitins chains. Essential component of TGF-beta/BMP signaling cascade. Specifically deubiquitinates monoubiquitinated SMAD4, opposing the activity of E3 ubiquitin-protein ligase TRIM33. Deubiquitinates alkylation repair enzyme ALKBH3. OTUD4 recruits USP7 and USP9X to stabilize ALKBH3, thereby promoting the repair of alkylated DNA lesions (PubMed:25944111). Regulates chromosome alignment and segregation in mitosis by regulating the localization of BIRC5/survivin to mitotic centromeres. Involved in axonal growth and neuronal cell migration (PubMed:16322459, PubMed:18254724, PubMed:19135894, PubMed:24607389). Regulates cellular clock function by enhancing the protein stability and transcriptional activity of the core circadian protein ARNTL/BMAL1 via its deubiquitinating activity (PubMed:29626158).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12;.
GENATLAS Biochemistry:
ubiquitin specific protease 9,X chromosome,Drosophila developmental gene fat facets related on the X,Dres14 mouse homolog,ubiquitously expressed at low levels in embryo,escaping inactivation,widely expressed,deubiquitin enzyme family

Enzyme Numbers (IUBMB) for USP9X Gene

Phenotypes From GWAS Catalog for USP9X Gene

Gene Ontology (GO) - Molecular Function for USP9X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004197 cysteine-type endopeptidase activity TAS,IBA 21873635
GO:0004843 thiol-dependent ubiquitin-specific protease activity IBA 21873635
GO:0005515 protein binding IPI 16322459
GO:0008233 peptidase activity IEA --
GO:0008234 cysteine-type peptidase activity TAS --
genes like me logo Genes that share ontologies with USP9X: view
genes like me logo Genes that share phenotypes with USP9X: view

Human Phenotype Ontology for USP9X Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP9X

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for USP9X Gene

Localization for USP9X Gene

Subcellular locations from UniProtKB/Swiss-Prot for USP9X Gene

Cytoplasm. Cell projection, growth cone.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for USP9X gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for USP9X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA,IDA 19135894
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
GO:0030426 growth cone IEA,IDA 24607389
genes like me logo Genes that share ontologies with USP9X: view

Pathways & Interactions for USP9X Gene

genes like me logo Genes that share pathways with USP9X: view

Pathways by source for USP9X Gene

1 Qiagen pathway for USP9X Gene
  • Ubiquitin-Proteasome Dependent Proteolysis
1 Cell Signaling Technology pathway for USP9X Gene

SIGNOR curated interactions for USP9X Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for USP9X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II TAS --
GO:0001764 neuron migration IMP 24607389
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process IEA --
GO:0006625 protein targeting to peroxisome TAS --
genes like me logo Genes that share ontologies with USP9X: view

Drugs & Compounds for USP9X Gene

(2) Drugs for USP9X Gene - From: ApexBio and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
WP1130 Pharma Deubiquitinase (DUB) inhibitor, Cell permeable 0

(1) ApexBio Compounds for USP9X Gene

Compound Action Cas Number
WP1130 Deubiquitinase (DUB) inhibitor, Cell permeable 856243-80-6
genes like me logo Genes that share compounds with USP9X: view

Drug products for research

Transcripts for USP9X Gene

mRNA/cDNA for USP9X Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for USP9X

Alternative Splicing Database (ASD) splice patterns (SP) for USP9X Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9: -
SP10:
SP11: -
SP12:
SP13:

ExUns: 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b · 26c ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:

ExUns: 39a · 39b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for USP9X Gene

GeneLoc Exon Structure for
USP9X

Expression for USP9X Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USP9X Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for USP9X Gene

This gene is overexpressed in Bone (16.1) and Peripheral blood mononuclear cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for USP9X Gene



Protein tissue co-expression partners for USP9X Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USP9X

SOURCE GeneReport for Unigene cluster for USP9X Gene:

Hs.77578

mRNA Expression by UniProt/SwissProt for USP9X Gene:

Q93008-USP9X_HUMAN
Tissue specificity: Widely expressed in embryonic and adult tissues.

Evidence on tissue expression from TISSUES for USP9X Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Eye(4.5)
  • Lung(4.4)
  • Intestine(2.7)
  • Kidney(2.7)
  • Muscle(2.5)
  • Heart(2.3)
  • Blood(2.3)
  • Skin(2.3)
  • Spleen(2.2)
  • Lymph node(2)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for USP9X Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tooth
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
  • testicle
  • urinary bladder
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with USP9X: view

Primer products for research

No data available for mRNA differential expression in normal tissues for USP9X Gene

Orthologs for USP9X Gene

This gene was present in the common ancestor of animals.

Orthologs for USP9X Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia -- 30
  • 99 (a)
OneToMany
-- 30
  • 99 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia USP9Y 30
  • 99 (a)
OneToOne
USP9X 29
  • 94.4 (n)
Chimpanzee
(Pan troglodytes)
Mammalia USP9X 29
  • 98.96 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 96 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 95 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Usp9x 29
  • 92.9 (n)
Mouse
(Mus musculus)
Mammalia Usp9x 29 16 30
  • 92.85 (n)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 95 (a)
OneToMany
USP9X 29
  • 85.94 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 95 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.4490 29
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.19925 29
Zebrafish
(Danio rerio)
Actinopterygii usp9 29 30
  • 76.27 (n)
OneToMany
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10083 29
Fruit Fly
(Drosophila melanogaster)
Insecta faf 29 30 31
  • 53.8 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010088 29
  • 41.3 (n)
Worm
(Caenorhabditis elegans)
Secernentea F37B12.4 31
  • 30 (a)
T24B8.7 30
  • 15 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5270 30
  • 56 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13972 29
Species where no ortholog for USP9X was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for USP9X Gene

ENSEMBL:
Gene Tree for USP9X (if available)
TreeFam:
Gene Tree for USP9X (if available)
Aminode:
Evolutionary constrained regions (ECRs) for USP9X: view image
Alliance of Genome Resources:
Additional Orthologs for USP9X

Paralogs for USP9X Gene

(2) SIMAP similar genes for USP9X Gene using alignment to 5 proteins:

  • USP9X_HUMAN
  • D3DWB6_HUMAN
  • H7C5R3_HUMAN
  • Q6P468_HUMAN
  • Q86X58_HUMAN
genes like me logo Genes that share paralogs with USP9X: view

Variants for USP9X Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USP9X Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1013601 Likely Benign: Mental retardation, X-linked 99 41,188,104(+) A/C
NM_001039591.3(USP9X):c.3797A>C (p.Lys1266Thr)
MISSENSE
1028480 Uncertain Significance: Mental retardation, X-linked 99 41,129,034(+) C/T
NM_001039591.3(USP9X):c.131C>T (p.Pro44Leu)
MISSENSE
1028481 Uncertain Significance: Mental retardation, X-linked 99 41,150,994(+) T/C
NM_001039591.3(USP9X):c.1700T>C (p.Ile567Thr)
MISSENSE
1028482 Uncertain Significance: Mental retardation, X-linked 99, syndromic, female-restricted 41,152,966(+) C/G
NM_001039591.3(USP9X):c.1782C>G (p.Pro594=)
SYNONYMOUS
1028975 Uncertain Significance: Mental retardation, X-linked 99 41,170,480(+) C/A
NM_001039591.3(USP9X):c.2888C>A (p.Ala963Asp)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for USP9X Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for USP9X Gene

Variant ID Type Subtype PubMed ID
dgv512n21 CNV gain 19592680
esv2675527 CNV deletion 23128226
esv2740110 CNV deletion 23290073
esv2740111 CNV deletion 23290073
esv2740112 CNV deletion 23290073
esv33720 CNV loss 17666407
esv3558815 CNV deletion 23714750
nsv6874 CNV insertion 18451855

Variation tolerance for USP9X Gene

Residual Variation Intolerance Score: 0.296% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 21.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for USP9X Gene

Human Gene Mutation Database (HGMD)
USP9X
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USP9X
Leiden Open Variation Database (LOVD)
USP9X

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USP9X Gene

Disorders for USP9X Gene

MalaCards: The human disease database

(10) MalaCards diseases for USP9X Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search USP9X in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

USP9X_HUMAN
  • Mental retardation, X-linked 99 (MRX99) [MIM:300919]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269 PubMed:24607389}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for USP9X

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with USP9X: view

No data available for Genatlas for USP9X Gene

Publications for USP9X Gene

  1. Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth. (PMID: 24607389) Homan CC … Jolly LA (American journal of human genetics 2014) 3 4 72
  2. The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2. (PMID: 8922996) Jones MH … Affara NA (Human molecular genetics 1996) 2 3 4
  3. Deubiquitinating enzyme USP9X regulates cellular clock function by modulating the ubiquitination and degradation of a core circadian protein BMAL1. (PMID: 29626158) Zhang Y … Xu G (The Biochemical journal 2018) 3 4
  4. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. (PMID: 26833328) Reijnders MR … Kleefstra T (American journal of human genetics 2016) 3 72
  5. Noncanonical regulation of alkylation damage resistance by the OTUD4 deubiquitinase. (PMID: 25944111) Zhao Y … Mosammaparast N (The EMBO journal 2015) 3 4

Products for USP9X Gene

Sources for USP9X Gene