AutismKB 2.0

Annotation Detail for RPTOR


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Basic Information Top
Gene Symbol:RPTOR ( KIAA1303,KOG1,Mip1 )
Gene Full Name: regulatory associated protein of MTOR, complex 1
Band: 17q25.3
Quick LinksEntrez ID:57521; OMIM: 607130; Uniprot ID:RPTOR_HUMAN; ENSEMBL ID: ENSG00000141564; HGNC ID: 30287
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body1 / 7076114
blastocyst1 / 6231916
fetus14 / 56401224
neonate1 / 3109732
infant2 / 2362084
juvenile1 / 5555617
adult45 / 193912123
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor7 / 26384526
glioma6 / 10688356
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia17 / 95842177
liver tumor1 / 9635910
lung tumor4 / 10312738
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal96 / 336030728
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma4 / 4635686
skin tumor7 / 12494956
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood7 / 12347856
bone5 / 7165569
bone marrow3 / 4880161
brain25 / 110098922
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye18 / 21105485
heart0 / 896260 
intestine10 / 23447242
kidney3 / 21177714
larynx0 / 241450 
liver1 / 2077434
lung8 / 33697423
lymph2 / 4427045
lymph node14 / 91610152
mammary gland2 / 15327113
mouth1 / 6705214
muscle3 / 10771527
nerve1 / 1576863
ovary2 / 10205119
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta9 / 28082532
prostate9 / 18934547
salivary gland0 / 201550 
skin10 / 21057447
spleen3 / 5395255
stomach2 / 9661920
testis7 / 33044221
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11785_PI416261804
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala4.5 ± 0.62
Basal Forebrain3.85 ± 0.51
Basal Part of Pons3.88 ± 0.52
Cerebellar Cortex3.99 ± 0.5
Cerebellar Nuclei4.28 ± 0.44
Claustrum4.34 ± 0.92
Epithalamus3.8 ± 0.6
Frontal Lobe3.92 ± 0.56
Globus Pallidus4.25 ± 0.38
Hypothalamus3.62 ± 0.44
Insula3.91 ± 0.5
Limbic Lobe4.35 ± 0.63
Mesencephalon4.07 ± 0.72
Myelencephalon4.03 ± 0.58
Occipital Lobe4.21 ± 0.76
Parietal Lobe4.21 ± 0.63
Pontine Tegmentum4.09 ± 0.63
Striatum3.96 ± 0.74
Subthalamus4.12 ± 0.49
Temporal Lobe4.13 ± 0.64
Thalamus3.83 ± 0.51
White Matter4.16 ± 0.84
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
4932417H02RikCBCerebellum87.41
100
4932417H02RikCTXCerebral cortex78.48
67.72
4932417H02RikHIPHippocampal region72.77
100
4932417H02RikHPFHippocampal formation61.32
81.78
4932417H02RikHYHypothalamus25.03
22.24
4932417H02RikLSXLateral septal complex14.67
11.92
4932417H02RikMBMidbrain35.92
35.52
4932417H02RikMYMedulla28.66
30.6
4932417H02RikOLFOlfactory bulb61.84
66.42
4932417H02RikPPons31.02
33.09
4932417H02RikPALPallidum24.87
23.82
4932417H02RikRHPRetrohippocampal region42.48
38.3
4932417H02RiksAMYStriatum-like amygdalar nuclei22.62
18.51
4932417H02RikSTRStriatum18.29
14.92
4932417H02RikSTRdStriatum dorsal region14.07
11.56
4932417H02RikSTRvStriatum ventral region32.32
24.87
4932417H02RikTHThalamus26.07
25.42
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00499100 12 974 985 IPEEHDLESQIR Peptide Atlas

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018