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Aliases for DEPDC5 Gene

Aliases for DEPDC5 Gene

  • DEP Domain Containing 5 2 3 5
  • DEP Domain-Containing Protein 5 3
  • KIAA0645 4
  • FFEVF1 3
  • DEP.5 3
  • FFEVF 3

External Ids for DEPDC5 Gene

Previous GeneCards Identifiers for DEPDC5 Gene

  • GC22P030476
  • GC22P030477
  • GC22P032149
  • GC22P015105

Summaries for DEPDC5 Gene

Entrez Gene Summary for DEPDC5 Gene

  • This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

GeneCards Summary for DEPDC5 Gene

DEPDC5 (DEP Domain Containing 5) is a Protein Coding gene. Diseases associated with DEPDC5 include Epilepsy, Familial Focal, With Variable Foci and Autosomal Dominant Epilepsy With Auditory Features. Among its related pathways are mTOR signaling pathway (KEGG). GO annotations related to this gene include GTPase activator activity.

UniProtKB/Swiss-Prot for DEPDC5 Gene

  • As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEPDC5 Gene

Genomics for DEPDC5 Gene

Regulatory Elements for DEPDC5 Gene

Enhancers for DEPDC5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G031895 1.5 FANTOM5 ENCODE dbSUPER 12.7 +141.7 141673 1.0 HDAC1 PKNOX1 CBX3 ATF1 TBL1XR1 ARNT NFRKB CHAMP1 TCF12 ZNF766 DEPDC5 RNU6-201P YWHAH C22orf24 PISD SFI1 PRR14L RFPL2 ENSG00000227813
GH22G031649 1.5 Ensembl ENCODE dbSUPER 10.9 -101.6 -101649 5.1 HDGF PKNOX1 GLIS2 ZNF766 FOS JUNB TBX21 ZNF518A NFIL3 SMARCA4 PRR14L DEPDC5 EIF4ENIF1 ENSG00000240591 DRG1 SFI1 PIK3IP1 PISD MIR7109
GH22G031927 1.3 FANTOM5 ENCODE dbSUPER 10.7 +173.2 173195 0.3 MXI1 RFX1 NFYC BMI1 EP300 RFX5 GATA3 RFX3 GATA2 NFYB RFPL2 RNU6-201P DEPDC5 YWHAH EIF4ENIF1 ENSG00000227813
GH22G031665 1.2 Ensembl ENCODE 11.4 -88.3 -88251 0.6 RB1 ARID4B KLF17 ZNF2 RAD21 ZNF121 ZNF143 KLF7 RCOR1 ZNF391 PRR14L DEPDC5 YWHAH C22orf24 RNU6-201P SFI1 PISD
GH22G031942 1.3 ENCODE dbSUPER 10.2 +191.2 191233 5.1 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF143 KLF13 RNU6-201P DEPDC5 PRR14L SELENOM YWHAH SFI1 PLA2G3 C22orf24
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEPDC5 on UCSC Golden Path with GeneCards custom track

Promoters for DEPDC5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000145395 49 1201 HDGF ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207 ZNF143 FOS

Genomic Location for DEPDC5 Gene

Chromosome:
22
Start:
31,753,951 bp from pter
End:
31,907,034 bp from pter
Size:
153,084 bases
Orientation:
Plus strand

Genomic View for DEPDC5 Gene

Genes around DEPDC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEPDC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEPDC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEPDC5 Gene

Proteins for DEPDC5 Gene

  • Protein details for DEPDC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75140-DEPD5_HUMAN
    Recommended name:
    DEP domain-containing protein 5
    Protein Accession:
    O75140
    Secondary Accessions:
    • A6H8V6
    • A8MPX9
    • B4DH93
    • B9EGN9
    • Q5K3V5
    • Q5THY9
    • Q5THZ0
    • Q5THZ1
    • Q5THZ3
    • Q68DR1
    • Q6MZX3
    • Q6PEZ1
    • Q9UGV8
    • Q9UH13

    Protein attributes for DEPDC5 Gene

    Size:
    1603 amino acids
    Molecular mass:
    181264 Da
    Quaternary structure:
    • Within the GATOR complex, component of the GATOR1 subcomplex, made of DEPDC5, NPRL2 and NPRL3. GATOR1 mediates the strong interaction of the GATOR complex with RRAGA/RRAGC and RRAGB/RRAGC heterodimers.
    SequenceCaution:
    • Sequence=BAA31620.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAH18159.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI17976.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI18778.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI19699.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for DEPDC5 Gene

neXtProt entry for DEPDC5 Gene

Post-translational modifications for DEPDC5 Gene

  • Ubiquitination at isoforms=10, 3, 4, 7, 8, 91543
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DEPDC5 Gene

Domains & Families for DEPDC5 Gene

Gene Families for DEPDC5 Gene

Protein Domains for DEPDC5 Gene

Graphical View of Domain Structure for InterPro Entry

O75140

UniProtKB/Swiss-Prot:

DEPD5_HUMAN :
  • Belongs to the IML1 family.
Family:
  • Belongs to the IML1 family.
genes like me logo Genes that share domains with DEPDC5: view

Function for DEPDC5 Gene

Molecular function for DEPDC5 Gene

UniProtKB/Swiss-Prot Function:
As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.

Gene Ontology (GO) - Molecular Function for DEPDC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005096 contributes_to GTPase activator activity IDA 23723238
GO:0032403 protein complex binding IDA 23723238
genes like me logo Genes that share ontologies with DEPDC5: view
genes like me logo Genes that share phenotypes with DEPDC5: view

Human Phenotype Ontology for DEPDC5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DEPDC5 Gene

MGI Knock Outs for DEPDC5:

Animal Model Products

CRISPR Products

miRNA for DEPDC5 Gene

miRTarBase miRNAs that target DEPDC5

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DEPDC5 Gene

Localization for DEPDC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEPDC5 Gene

Cytoplasm, cytosol. Cytoplasm, perinuclear region.

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 DEPDC5 gene
Compartment Confidence
cytosol 5
lysosome 5
nucleus 3
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for DEPDC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IDA 23723238
GO:0005765 lysosomal membrane IDA 17897319
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with DEPDC5: view

Pathways & Interactions for DEPDC5 Gene

SuperPathways for DEPDC5 Gene

SuperPathway Contained pathways
1 mTOR signaling pathway (KEGG)
genes like me logo Genes that share pathways with DEPDC5: view

Pathways by source for DEPDC5 Gene

1 KEGG pathway for DEPDC5 Gene

Gene Ontology (GO) - Biological Process for DEPDC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010506 regulation of autophagy IBA --
GO:0032007 negative regulation of TOR signaling IMP 23723238
GO:0034198 cellular response to amino acid starvation IMP 23723238
GO:0035556 intracellular signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with DEPDC5: view

No data available for SIGNOR curated interactions for DEPDC5 Gene

Transcripts for DEPDC5 Gene

Unigene Clusters for DEPDC5 Gene

DEP domain containing 5:
Representative Sequences:

CRISPR Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEPDC5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23a · 23b ^ 24a ·
SP1: -
SP2: -
SP3: - -
SP4:
SP5: -
SP6: - -
SP7:
SP8:
SP9: -
SP10:
SP11:

ExUns: 24b ^ 25 ^ 26a · 26b ^ 27a · 27b · 27c · 27d ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37a · 37b ^ 38 ^ 39a · 39b ^ 40 ^ 41 ^ 42 ^ 43 ^
SP1: - - - -
SP2: - - - - -
SP3: - - - - - -
SP4:
SP5: - - - - - -
SP6: - - -
SP7: - -
SP8:
SP9: - - - - -
SP10:
SP11: -

ExUns: 44a · 44b ^ 45
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - -

Relevant External Links for DEPDC5 Gene

GeneLoc Exon Structure for
DEPDC5
ECgene alternative splicing isoforms for
DEPDC5

Expression for DEPDC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DEPDC5 Gene

Protein differential expression in normal tissues from HIPED for DEPDC5 Gene

This gene is overexpressed in Bone (20.0), Peripheral blood mononuclear cells (13.6), and Heart (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DEPDC5 Gene



Protein tissue co-expression partners for DEPDC5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DEPDC5 Gene:

DEPDC5

SOURCE GeneReport for Unigene cluster for DEPDC5 Gene:

Hs.435022

mRNA Expression by UniProt/SwissProt for DEPDC5 Gene:

O75140-DEPD5_HUMAN
Tissue specificity: Expressed in developing and adult brain.

Evidence on tissue expression from TISSUES for DEPDC5 Gene

  • Nervous system(4.4)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DEPDC5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with DEPDC5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DEPDC5 Gene

Orthologs for DEPDC5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DEPDC5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEPDC5 34 35
  • 99.43 (n)
cow
(Bos Taurus)
Mammalia DEPDC5 35
  • 94 (a)
OneToOne
LOC521542 34
  • 88.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DEPDC5 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DEPDC5 34 35
  • 92.38 (n)
mouse
(Mus musculus)
Mammalia Depdc5 34 16 35
  • 90.05 (n)
rat
(Rattus norvegicus)
Mammalia Depdc5 34
  • 89.33 (n)
oppossum
(Monodelphis domestica)
Mammalia DEPDC5 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves DEPDC5 34 35
  • 81.25 (n)
lizard
(Anolis carolinensis)
Reptilia DEPDC5 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100498286 34
  • 73.13 (n)
zebrafish
(Danio rerio)
Actinopterygii depdc5 34 35
  • 70.69 (n)
Dr.3234 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007010 34
  • 51.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12090 34 35
  • 49.98 (n)
worm
(Caenorhabditis elegans)
Secernentea T08A11.1 35
  • 21 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IML1 35 37
  • 18 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.526 35
  • 18 (a)
OneToOne
Species where no ortholog for DEPDC5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 DEPDC5 Gene

ENSEMBL:
Gene Tree for DEPDC5 (if available)
TreeFam:
Gene Tree for DEPDC5 (if available)

Paralogs for DEPDC5 Gene

No data available for Paralogs for DEPDC5 Gene

Variants for DEPDC5 Gene

Sequence variations from dbSNP and Humsavar for DEPDC5 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs142540948 Uncertain significance, Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] 31,857,530(+) CTCCC(A/C)CCTAC nc-transcript-variant, reference, missense
rs187334123 Uncertain significance, Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] 31,797,646(+) TTCTC(A/G/T)TAACC nc-transcript-variant, reference, missense
rs202226316 Uncertain significance, Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] 31,810,551(+) GAACG(C/T)CCTTC nc-transcript-variant, reference, missense
rs564667614 other, Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] 31,843,170(+) AGTGA(C/T)GCTGA nc-transcript-variant, reference, missense
rs578244490 Uncertain significance, Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] 31,870,720(+) CTACT(C/T)CTCCA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DEPDC5 Gene

Variant ID Type Subtype PubMed ID
esv2513825 CNV deletion 19546169
esv2575942 CNV insertion 19546169
esv2670901 CNV deletion 23128226
esv2724143 CNV deletion 23290073
esv3310448 CNV novel sequence insertion 20981092
esv3328483 CNV duplication 20981092
esv3558070 CNV deletion 23714750
esv3647596 CNV loss 21293372
nsv1060929 CNV loss 25217958
nsv1110864 OTHER inversion 24896259
nsv1139058 CNV deletion 24896259
nsv3595 CNV insertion 18451855
nsv508731 CNV insertion 20534489

Variation tolerance for DEPDC5 Gene

Residual Variation Intolerance Score: 6.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.83; 73.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEPDC5 Gene

Human Gene Mutation Database (HGMD)
DEPDC5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEPDC5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEPDC5 Gene

Disorders for DEPDC5 Gene

MalaCards: The human disease database

(11) MalaCards diseases for DEPDC5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, familial focal, with variable foci
  • familial focal epilepsy with variable foci
autosomal dominant epilepsy with auditory features
  • adeaf
epilepsy, familial focal with variable foci 1
  • fpevf1
focal epilepsy
  • localisation-related epilepsy
depdc5-related epilepsy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DEPD5_HUMAN
  • Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364]: An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete. {ECO:0000269 PubMed:23542697, ECO:0000269 PubMed:23542701, ECO:0000269 PubMed:24283814, ECO:0000269 PubMed:24591017, ECO:0000269 PubMed:25366275, ECO:0000269 PubMed:26505888, ECO:0000269 PubMed:27173016}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Inactivating mutations and truncating deletions in the genes encoding GATOR1 proteins, including DEPDC5, are detected in glioblastoma and ovarian tumors and are associated with loss of heterozygosity events. Inactivation of GATOR1 proteins promotes constitutive localization of mTORC1 to the lysosomal membrane and blocks mTORC1 inactivation following amino acid withdrawal (PubMed:23723238). {ECO:0000269 PubMed:23723238}.

Relevant External Links for DEPDC5

Genetic Association Database (GAD)
DEPDC5
Human Genome Epidemiology (HuGE) Navigator
DEPDC5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEPDC5
genes like me logo Genes that share disorders with DEPDC5: view

No data available for Genatlas for DEPDC5 Gene

Publications for DEPDC5 Gene

  1. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. (PMID: 23542697) Dibbens L.M. … Scheffer I.E. (Nat. Genet. 2013) 2 3 4 64
  2. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. (PMID: 23542701) Ishida S. … Baulac S. (Nat. Genet. 2013) 2 3 4 64
  3. A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population. (PMID: 24283814) Martin C. … Cossette P. (Clin. Genet. 2014) 3 4 64
  4. DEPDC5 mutations in genetic focal epilepsies of childhood. (PMID: 24591017) Lal D. … Neubauer B.A. (Ann. Neurol. 2014) 3 4 64
  5. Preliminary Functional Assessment and Classification of DEPDC5 Variants Associated with Focal Epilepsy. (PMID: 25366275) van Kranenburg M. … Nellist M. (Hum. Mutat. 2014) 3 4 64

Products for DEPDC5 Gene

Sources for DEPDC5 Gene

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