DEPTOR (DEP domain containing MTOR interacting protein) - Rat Genome Database

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Gene: DEPTOR (DEP domain containing MTOR interacting protein) Homo sapiens
Analyze
Symbol: DEPTOR
Name: DEP domain containing MTOR interacting protein
RGD ID: 1344261
HGNC Page HGNC
Description: Involved in negative regulation of cell size; negative regulation of protein kinase activity; and regulation of signal transduction; PARTICIPATES IN mTOR signaling pathway; INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 17beta-hydroxy-5alpha-androstan-3-one.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DEP domain containing 6; DEP domain-containing mTOR-interacting protein; DEP domain-containing protein 6; DEP.6; DEPDC6; DKFZp564B1778; FLJ12341; FLJ12428; FLJ13854
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8119,873,717 - 120,050,918 (+)EnsemblGRCh38hg38GRCh38
GRCh388119,873,722 - 120,050,918 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378120,885,962 - 121,063,157 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,955,146 - 121,131,939 (+)NCBINCBI36hg18NCBI36
Build 348120,955,145 - 121,131,937NCBI
Celera8117,075,022 - 117,252,280 (+)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8116,206,531 - 116,383,857 (+)NCBIHuRef
CHM1_18120,926,725 - 121,103,852 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
amiodarone  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bicalutamide  (EXP)
bilirubin IXalpha  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
buspirone  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
chloroprene  (ISO)
choline  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
cytarabine  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (EXP)
dorsomorphin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
genistein  (EXP)
indometacin  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
menadione  (EXP)
metformin  (EXP)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
nickel atom  (EXP)
nickel dichloride  (ISO)
ozone  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
phenobarbital  (ISO)
pioglitazone  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
resveratrol  (EXP,ISO)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sirolimus  (EXP)
sodium arsenate  (ISO)
sodium dichromate  (ISO)
succimer  (ISO)
sulforaphane  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8125298   PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:14702039   PMID:15489336   PMID:16344560   PMID:16381901   PMID:19446321   PMID:20169205   PMID:20379614  
PMID:20858096   PMID:21516116   PMID:21643629   PMID:21832049   PMID:21992080   PMID:22017875   PMID:22017876   PMID:22017877   PMID:22087225   PMID:22160218   PMID:22282237   PMID:22454292  
PMID:22658674   PMID:23503641   PMID:23541542   PMID:23563706   PMID:23583980   PMID:23613505   PMID:23881914   PMID:23940030   PMID:24969890   PMID:25119265   PMID:25258312   PMID:25332235  
PMID:25333702   PMID:25416956   PMID:25499913   PMID:25544749   PMID:25605718   PMID:25810016   PMID:25843797   PMID:25936805   PMID:26091241   PMID:26608079   PMID:26673895   PMID:26717892  
PMID:26871578   PMID:26893358   PMID:26896556   PMID:26992219   PMID:27211906   PMID:27593934   PMID:27655709   PMID:27693506   PMID:28086984   PMID:28267437   PMID:28349073   PMID:28358054  
PMID:28420429   PMID:28611215   PMID:29330362   PMID:29382726   PMID:29457836   PMID:29666061   PMID:29897294   PMID:29940800   PMID:30080879   PMID:30232230   PMID:30639242   PMID:31176743  
PMID:31228948   PMID:31453770   PMID:31525175   PMID:31685947   PMID:31710517   PMID:32296183   PMID:32702393   PMID:33184290   PMID:33412518  


Genomics

Comparative Map Data
DEPTOR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8119,873,717 - 120,050,918 (+)EnsemblGRCh38hg38GRCh38
GRCh388119,873,722 - 120,050,918 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378120,885,962 - 121,063,157 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368120,955,146 - 121,131,939 (+)NCBINCBI36hg18NCBI36
Build 348120,955,145 - 121,131,937NCBI
Celera8117,075,022 - 117,252,280 (+)NCBI
Cytogenetic Map8q24.12NCBI
HuRef8116,206,531 - 116,383,857 (+)NCBIHuRef
CHM1_18120,926,725 - 121,103,852 (+)NCBICHM1_1
Deptor
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391554,975,713 - 55,122,669 (+)NCBIGRCm39mm39
GRCm39 Ensembl1554,975,713 - 55,122,667 (+)Ensembl
GRCm381555,112,317 - 55,259,273 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1555,112,317 - 55,259,271 (+)EnsemblGRCm38mm10GRCm38
MGSCv371554,944,038 - 55,085,757 (+)NCBIGRCm37mm9NCBIm37
MGSCv361554,942,566 - 55,084,285 (+)NCBImm8
Celera1556,652,905 - 56,794,634 (+)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1521.96NCBI
Deptor
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2786,514,859 - 86,668,817 (+)NCBI
Rnor_6.0 Ensembl794,795,214 - 94,995,809 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0794,795,161 - 95,000,750 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0795,520,754 - 95,625,869 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4791,675,825 - 91,742,576 (+)NCBIRGSC3.4rn4RGSC3.4
Celera783,308,700 - 83,462,454 (+)NCBICelera
Cytogenetic Map7q32NCBI
Deptor
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541725,538,578 - 25,566,772 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541725,538,609 - 25,563,374 (+)NCBIChiLan1.0ChiLan1.0
DEPTOR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18119,311,942 - 119,492,127 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8119,311,942 - 119,492,127 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08116,563,935 - 116,743,843 (+)NCBIMhudiblu_PPA_v0panPan3
DEPTOR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11318,859,526 - 18,993,464 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1318,859,634 - 18,988,583 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1318,872,396 - 19,007,464 (+)NCBI
ROS_Cfam_1.01319,188,815 - 19,323,823 (+)NCBI
UMICH_Zoey_3.11318,915,849 - 19,051,161 (+)NCBI
UNSW_CanFamBas_1.01319,015,161 - 19,150,366 (+)NCBI
UU_Cfam_GSD_1.01319,246,027 - 19,381,218 (+)NCBI
Deptor
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530319,272,854 - 19,411,349 (-)NCBI
SpeTri2.0NW_00493647026,698,707 - 26,837,470 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DEPTOR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl418,908,686 - 19,180,117 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1418,969,509 - 19,180,131 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2420,001,488 - 20,186,277 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DEPTOR
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18114,442,212 - 114,626,411 (+)NCBI
ChlSab1.1 Ensembl8114,442,379 - 114,625,171 (+)Ensembl
Vero_WHO_p1.0NW_02366603925,660,666 - 25,847,582 (-)NCBI
Deptor
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476317,935,171 - 17,956,858 (+)NCBI

Position Markers
RH91937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,062,575 - 121,062,757UniSTSGRCh37
Build 368121,131,756 - 121,131,938RGDNCBI36
Celera8117,251,698 - 117,251,880RGD
Cytogenetic Map8q24.12UniSTS
HuRef8116,383,275 - 116,383,457UniSTS
GeneMap99-GB4 RH Map8466.99UniSTS
SHGC-154090  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,888,321 - 120,888,618UniSTSGRCh37
Build 368120,957,502 - 120,957,799RGDNCBI36
Celera8117,077,443 - 117,077,740RGD
Cytogenetic Map8q24.12UniSTS
HuRef8116,208,952 - 116,209,249UniSTS
TNG Radiation Hybrid Map857834.0UniSTS
D8S323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,047,515 - 121,047,712UniSTSGRCh37
Build 368121,116,696 - 121,116,893RGDNCBI36
Celera8117,236,638 - 117,236,835RGD
Cytogenetic Map8q24.12UniSTS
HuRef8116,368,218 - 116,368,415UniSTS
RH48017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378121,010,980 - 121,011,147UniSTSGRCh37
Build 368121,080,161 - 121,080,328RGDNCBI36
Celera8117,200,100 - 117,200,267RGD
Cytogenetic Map8q24.12UniSTS
HuRef8116,331,948 - 116,332,115UniSTS
GeneMap99-GB4 RH Map8465.76UniSTS
RH45620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378120,920,389 - 120,920,509UniSTSGRCh37
Build 368120,989,570 - 120,989,690RGDNCBI36
Celera8117,109,567 - 117,109,687RGD
Cytogenetic Map8q24.12UniSTS
HuRef8116,241,410 - 116,241,530UniSTS
GeneMap99-GB4 RH Map8465.76UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:872
Count of miRNA genes:550
Interacting mature miRNAs:600
Transcripts:ENST00000286234, ENST00000518057, ENST00000523492
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


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 1 1 2
Medium 1990 675 1432 362 442 202 3298 1544 1421 327 880 942 160 1030 2308 1 2
Low 444 1880 292 260 832 260 1055 641 2307 88 568 663 13 1 174 480 3
Below cutoff 4 431 2 2 645 3 3 12 6 4 10 8 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001283012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC091563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP005717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA622978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000286234   ⟹   ENSP00000286234
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,873,722 - 120,050,918 (+)Ensembl
RefSeq Acc Id: ENST00000518057
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,969,788 - 120,049,591 (+)Ensembl
RefSeq Acc Id: ENST00000523492   ⟹   ENSP00000430457
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8119,873,717 - 120,050,044 (+)Ensembl
RefSeq Acc Id: NM_001283012   ⟹   NP_001269941
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,873,722 - 120,050,918 (+)NCBI
HuRef8116,206,526 - 116,383,857 (+)NCBI
CHM1_18120,926,725 - 121,103,852 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022783   ⟹   NP_073620
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,873,722 - 120,050,918 (+)NCBI
GRCh378120,885,900 - 121,063,157 (+)RGD
GRCh378120,885,900 - 121,063,157 (+)NCBI
Build 368120,955,146 - 121,131,939 (+)NCBI Archive
Celera8117,075,022 - 117,252,280 (+)RGD
HuRef8116,206,526 - 116,383,857 (+)NCBI
CHM1_18120,926,725 - 121,103,852 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_073620   ⟸   NM_022783
- Peptide Label: isoform 1
- UniProtKB: Q8TB45 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269941   ⟸   NM_001283012
- Peptide Label: isoform 2
- UniProtKB: Q8TB45 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000286234   ⟸   ENST00000286234
RefSeq Acc Id: ENSP00000430457   ⟸   ENST00000523492
Protein Domains
DEP   PDZ

Promoters
RGD ID:7214073
Promoter ID:EPDNEW_H12783
Type:initiation region
Name:DEPTOR_1
Description:DEP domain containing MTOR interacting protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12784  EPDNEW_H12780  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,873,722 - 119,873,782EPDNEW
RGD ID:7214075
Promoter ID:EPDNEW_H12784
Type:initiation region
Name:DEPTOR_3
Description:DEP domain containing MTOR interacting protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12783  EPDNEW_H12780  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388119,873,824 - 119,873,884EPDNEW
RGD ID:6806601
Promoter ID:HG_KWN:61989
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_022783
Position:
Human AssemblyChrPosition (strand)Source
Build 368120,955,034 - 120,955,534 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1 copy number loss See cases [RCV000054301] Chr8:113288454..126716087 [GRCh38]
Chr8:114300683..127728332 [GRCh37]
Chr8:114369859..127797514 [NCBI36]
Chr8:8q23.3-24.21
pathogenic
GRCh38/hg38 8q24.11-24.13(chr8:118059192-121574437)x1 copy number loss See cases [RCV000054304] Chr8:118059192..121574437 [GRCh38]
Chr8:119071431..122586677 [GRCh37]
Chr8:119140612..122655858 [NCBI36]
Chr8:8q24.11-24.13
pathogenic
NM_001283012.1(DEPTOR):c.123-10200A>G single nucleotide variant Lung cancer [RCV000106982] Chr8:119955032 [GRCh38]
Chr8:120967272 [GRCh37]
Chr8:8q24.12
uncertain significance
NM_001283012.1(DEPTOR):c.694-472T>G single nucleotide variant Lung cancer [RCV000106983] Chr8:120008557 [GRCh38]
Chr8:121020796 [GRCh37]
Chr8:8q24.12
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:113418060-120975305)x1 copy number loss See cases [RCV000135291] Chr8:113418060..120975305 [GRCh38]
Chr8:114430289..121987545 [GRCh37]
Chr8:114499465..122056726 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q23.3-24.12(chr8:112528342-120083041)x1 copy number loss See cases [RCV000135819] Chr8:112528342..120083041 [GRCh38]
Chr8:113540571..121095280 [GRCh37]
Chr8:113609747..121164461 [NCBI36]
Chr8:8q23.3-24.12
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q24.12(chr8:119336700-119893839)x3 copy number gain See cases [RCV000136693] Chr8:119336700..119893839 [GRCh38]
Chr8:120348940..120906079 [GRCh37]
Chr8:120418121..120975260 [NCBI36]
Chr8:8q24.12
uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:114560780-122594102)x1 copy number loss See cases [RCV000139027] Chr8:114560780..122594102 [GRCh38]
Chr8:115573009..123606341 [GRCh37]
Chr8:115642185..123675522 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8q23.3-24.13(chr8:113933305-122621741)x1 copy number loss See cases [RCV000140680] Chr8:113933305..122621741 [GRCh38]
Chr8:114945534..123633980 [GRCh37]
Chr8:115014710..123703161 [NCBI36]
Chr8:8q23.3-24.13
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.12(chr8:120602818-120960053)x3 copy number gain See cases [RCV000447837] Chr8:120602818..120960053 [GRCh37]
Chr8:8q24.12
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1 copy number loss not provided [RCV000683038] Chr8:110250943..123515785 [GRCh37]
Chr8:8q23.1-24.13
pathogenic
Single allele deletion Trichorhinophalangeal dysplasia type I [RCV000735900] Chr8:114508086..129040004 [GRCh37]
Chr8:8q23.3-24.21
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12(chr8:120582871-120958270)x3 copy number gain not provided [RCV000747800] Chr8:120582871..120958270 [GRCh37]
Chr8:8q24.12
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12(chr8:120577149-120973977)x3 copy number gain not provided [RCV001006139] Chr8:120577149..120973977 [GRCh37]
Chr8:8q24.12
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q23.2-24.13(chr8:111514791-123192373)x1 copy number loss not provided [RCV001006131] Chr8:111514791..123192373 [GRCh37]
Chr8:8q23.2-24.13
pathogenic
GRCh37/hg19 8q24.12(chr8:120572884-120976352)x3 copy number gain not provided [RCV000849946] Chr8:120572884..120976352 [GRCh37]
Chr8:8q24.12
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22953 AgrOrtholog
COSMIC DEPTOR COSMIC
Ensembl Genes ENSG00000155792 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000286234 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430457 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000286234 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000523492 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.10.10 UniProtKB/Swiss-Prot
  2.30.42.10 UniProtKB/Swiss-Prot
GTEx ENSG00000155792 GTEx
HGNC ID HGNC:22953 ENTREZGENE
Human Proteome Map DEPTOR Human Proteome Map
InterPro DEP_dom UniProtKB/Swiss-Prot
  DEPTOR UniProtKB/Swiss-Prot
  DEPTOR_DEP_1 UniProtKB/Swiss-Prot
  DEPTOR_DEP_2 UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
  PDZ_sf UniProtKB/Swiss-Prot
  WH-like_DNA-bd_sf UniProtKB/Swiss-Prot
  WH_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:64798 UniProtKB/Swiss-Prot
NCBI Gene 64798 ENTREZGENE
OMIM 612974 OMIM
PANTHER PTHR22829:SF18 UniProtKB/Swiss-Prot
Pfam DEP UniProtKB/Swiss-Prot
PharmGKB PA134897957 PharmGKB
PROSITE DEP UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
SMART DEP UniProtKB/Swiss-Prot
  PDZ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46785 UniProtKB/Swiss-Prot
  SSF50156 UniProtKB/Swiss-Prot
UniProt DPTOR_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2RCL9 UniProtKB/Swiss-Prot
  B4DN97 UniProtKB/Swiss-Prot
  E7EV87 UniProtKB/Swiss-Prot
  Q96EQ1 UniProtKB/Swiss-Prot
  Q9H0R7 UniProtKB/Swiss-Prot
  Q9H894 UniProtKB/Swiss-Prot
  Q9HA07 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-12-13 DEPTOR  DEP domain containing MTOR interacting protein    DEP domain containing MTOR-interacting protein  Symbol and/or name change 5135510 APPROVED
2011-07-27 DEPTOR  DEP domain containing MTOR-interacting protein  DEPDC6  DEP domain containing 6  Symbol and/or name change 5135510 APPROVED