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
Post Translation Modification Top
Location(AA) Modification
719Phosphoserine.
721Phosphoserine.
722Phosphoserine.
857Phosphothreonine (By similarity).
859Phosphoserine.
863Phosphoserine.
865Phosphothreonine.
877Phosphoserine.
Location(AA) Modifications Resource
857Phosphothreonine (By similarity).Swiss-Prot 53.0
859Phosphoserine.Swiss-Prot 53.0
859PhosphoserinePhospho.ELM 6.0
863Phosphoserine.Swiss-Prot 53.0
863PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
44Phosphoserine(IKK)HMM predict
81S-palmitoylHMM predict
110Phosphotyrosine(Syk)HMM predict
170N-linkedHMM predict
361N-linkedHMM predict
367O-linkedHMM predict
442Phosphoserine(ATM)HMM predict
526Phosphotyrosine(Syk)HMM predict
692Phosphotyrosine(INSR)HMM predict
692Phosphotyrosine(Syk)HMM predict
700O-linkedHMM predict
706Phosphothreonine(CDK)HMM predict
706Phosphothreonine(MAPK)HMM predict
711Phosphoserine(IKK)HMM predict
714Phosphothreonine(CDC2)HMM predict
719Phosphoserine(PKG)HMM predict
736N-linkedHMM predict
741N-linkedHMM predict
758N-linkedHMM predict
761O-linkedHMM predict
762O-linkedHMM predict
763O-linkedHMM predict
767Phosphoserine(CK1)HMM predict
768Phosphothreonine(PKC)HMM predict
771Phosphoserine(CDC2)HMM predict
792Phosphoserine(PKC)HMM predict
792Phosphoserine(PKG)HMM predict
792Phosphoserine(CAMK2)HMM predict
794Phosphoserine(CK1)HMM predict
855Phosphoserine(CK1)HMM predict
855Phosphoserine(IKK)HMM predict
859Phosphoserine(IKK)HMM predict
859O-linkedHMM predict
863PhosphoserineHMM predict
863Phosphoserine(MAPK)HMM predict
863Phosphoserine(IKK)HMM predict
863Phosphoserine(CDC2)HMM predict
863Phosphoserine(MAPK)HMM predict
877Phosphoserine(ATM)HMM predict
877O-linkedHMM predict
881O-linkedHMM predict
882O-linkedHMM predict
883O-linkedHMM predict
884Phosphoserine(CK1)HMM predict
886Phosphoserine(CDC2)HMM predict
903O-linkedHMM predict
909O-linkedHMM predict
937Phosphothreonine(CK2)HMM predict
1167O-linkedHMM predict
1281N-linkedHMM predict
1324Phosphotyrosine(INSR)HMM predict
1324Phosphotyrosine(Syk)HMM predict
1324Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020761
  • Location:chr17 76133219-76554767
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 76119728 76120273 545 13219
Oct1 H2O2-HelaGSE14283 76116695 76116725 30 16510
Oct4 hESGSE21916 76114729 76115276 547 18217
USF1 HepG2E 76120034 76120248 214 13079
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 76558882 76559127 245 4237
CTCF CD4SISSRdata 76558882 76559127 245 4237
CTCF G2GSE9613 76558622 76559163 541 4125
hScc1 BcellGSE12603 76558406 76560023 1617 4447
hScc1 BcellGSE12603 76567372 76567606 234 12722
hScc1 CdLSGSE12603 76558664 76559072 408 4101
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 76444409 76446092 1683 0
CBP T30-glioblastomaGSE21026 76461765 76462678 913 0
CTCF CD4GSE12889 76133134 76133309 175 0
CTCF CD4GSE12889 76163769 76164182 413 0
CTCF CD4GSE12889 76450277 76450495 218 0
CTCF CD4GSE12889 76454631 76454991 360 0
CTCF CD4GSE12889 76487847 76488061 214 0
CTCF CD4SISSRdata 76133134 76133309 175 0
CTCF CD4SISSRdata 76163769 76164182 413 0
CTCF CD4SISSRdata 76450277 76450495 218 0
CTCF CD4SISSRdata 76454631 76454991 360 0
CTCF CD4SISSRdata 76487847 76488061 214 0
CTCF HelaGSE12889 76163746 76164159 413 0
CTCF HelaGSE12889 76487814 76488045 231 0
CTCF JurkatGSE12889 76238428 76238763 335 0
CTCF G2GSE9613 76224133 76224666 533 0
CTCF G2GSE9613 76238387 76238716 329 0
CTCF G2GSE9613 76329580 76329779 199 0
CTCF G2GSE9613 76337098 76337417 319 0
CTCF G2GSE9613 76337751 76338035 284 0
CTCF G2GSE9613 76464918 76465289 371 0
CTCF G2GSE9613 76477970 76478469 499 0
CTCF G2GSE9613 76484770 76485012 242 0
CTCF G2GSE9613 76495578 76495868 290 0
CTCF G2GSE9613 76506321 76506651 330 0
CTCF G2GSE9613 76511783 76512255 472 0
CTCF G2GSE9613 76527978 76528343 365 0
CTCF G2GSE9613 76536020 76536271 251 0
CTCF G2GSE9613 76537348 76537771 423 0
CTCF G2GSE9613 76547289 76547776 487 0
CTCF G2GSE9613 76548692 76549700 1008 0
CTCF G2GSE9613 76553189 76553611 422 0
CTCF G2GSE9613 76554187 76554350 163 0
ER Breast-CancerGSE22609 76419905 76420565 660 0
ER Breast-CancerGSE22609 76494953 76495572 619 0
ER Fulvestrant-MCF7GSE14664 76192839 76192875 36 0
ER Fulvestrant-MCF7GSE14664 76430041 76430082 41 0
ER MCF7GSE19013 76494883 76495400 517 0
ETS1 JurkatGSE17954 76132709 76134246 1537 0
ETS1 JurkatGSE17954 76291337 76292595 1258 0
ETS1 JurkatGSE17954 76477730 76479002 1272 0
Fos K562GSE19551 76163609 76164180 571 0
Fos K562GSE19551 76380189 76380789 600 0
Fos K562GSE19551 76444663 76445619 956 0
FoxA1 MCF7MACSdata 76349058 76349370 312 0
GABP HelaGSE8489 76331968 76333509 1541 0
GABP HelaGSE8489 76431046 76431291 245 0
H3K4me2 HCT116GSE10453 76134040 76135109 1069 0
H3K4me3 colorectalcancer 76133963 76134787 824 0
H3ac HepG2E 76133130 76135141 2011 0
H3ac HepG2E 76217350 76218334 984 0
H3ac HepG2E 76219479 76219671 192 0
H3ac HepG2E 76419885 76420143 258 0
H3ac HepG2E 76551658 76551934 276 0
KLF4 hESGSE17917 76538653 76538808 155 0
KLF4 hESGSE17917 76546578 76546732 154 0
Myc K562GSE19551 76163736 76164143 407 0
Myc K562GSE19551 76479910 76481018 1108 0
Myc K562GSE19551 76487817 76488061 244 0
Myc hESGSE17917 76206812 76207192 380 0
NFkBII GM12878GSE19485 76444405 76445752 1347 0
NFkBII GM12878GSE19485 76489108 76490640 1532 0
NFkBII GM12878GSE19485 76517307 76518628 1321 0
NRSF JurkatSISSRdata 76163842 76164052 210 0
NRSF mAbJurkat 76484617 76485012 395 0
Nanog hESGSE18292 76365677 76366125 448 0
Nanog hESGSE18292 76416084 76416583 499 0
Nanog hESGSE18292 76462046 76462250 204 0
Nanog hESGSE18292 76515183 76515468 285 0
Oct1 H2O2-HelaGSE14283 76215478 76215516 38 0
Oct1 H2O2-HelaGSE14283 76227202 76227231 29 0
Oct1 H2O2-HelaGSE14283 76269694 76269722 28 0
Oct1 H2O2-HelaGSE14283 76283506 76283534 28 0
Oct1 H2O2-HelaGSE14283 76328854 76328883 29 0
Oct1 H2O2-HelaGSE14283 76504193 76504224 31 0
Oct1 HelaGSE14283 76192834 76192879 45 0
Oct1 HelaGSE14283 76215456 76215516 60 0
Oct1 HelaGSE14283 76227203 76227234 31 0
Oct1 HelaGSE14283 76283504 76283534 30 0
Oct1 HelaGSE14283 76430035 76430085 50 0
Oct1 HelaGSE14283 76504193 76504230 37 0
Oct4 hESGSE17917 76163839 76164139 300 0
P300 T0-glioblastomaGSE21026 76132907 76133810 903 0
P300 T30-glioblastomaGSE21026 76132682 76133979 1297 0
P300 T30-glioblastomaGSE21026 76348196 76350666 2470 0
P300 T30-glioblastomaGSE21026 76379346 76381300 1954 0
P300 T30-glioblastomaGSE21026 76443271 76446174 2903 0
P300 T30-glioblastomaGSE21026 76461689 76462689 1000 0
PHF8 293TGSE20725 76132947 76134112 1165 0
RARA MCF7GSE15244 76331968 76333445 1477 0
RARG MCF7GSE15244 76193915 76194377 462 0
RARG MCF7GSE15244 76406181 76406761 580 0
RARG MCF7GSE15244 76409716 76410144 428 0
Rb GrowingGSE19898 76354888 76355095 207 0
Rb GrowingGSE19898 76479735 76479927 192 0
Rb SenescentGSE19898 76349831 76350028 197 0
Sox2 hESGSE18292 76461934 76462318 384 0
TAF HelaGSE8489 76133867 76135141 1274 0
TAF k562GSE8489 76133689 76135141 1452 0
TAF k562GSE8489 76460007 76460195 188 0
TAFII hESGSE17917 76133116 76133576 460 0
TFAP2C MCF7GSE21234 76136833 76137348 515 0
TFAP2C MCF7GSE21234 76153819 76154350 531 0
TFAP2C MCF7GSE21234 76294466 76295359 893 0
TFAP2C MCF7GSE21234 76314101 76314449 348 0
TFAP2C MCF7GSE21234 76407914 76409306 1392 0
TFAP2C MCF7GSE21234 76444702 76445166 464 0
TFAP2C MCF7GSE21234 76461764 76462497 733 0
TFAP2C MCF7GSE21234 76488949 76489635 686 0
TFAP2C MCF7GSE21234 76547741 76548631 890 0
USF2 HepG2E 76217350 76218334 984 0
hScc1 BcellGSE12603 76315288 76315541 253 0
hScc1 BcellGSE12603 76332217 76333315 1098 0
hScc1 BcellGSE12603 76342063 76342438 375 0
hScc1 BcellGSE12603 76344163 76344412 249 0
hScc1 BcellGSE12603 76392377 76392779 402 0
hScc1 BcellGSE12603 76399905 76400341 436 0
hScc1 BcellGSE12603 76421468 76421830 362 0
hScc1 BcellGSE12603 76433457 76435257 1800 0
hScc1 BcellGSE12603 76445081 76445802 721 0
hScc1 BcellGSE12603 76446424 76446862 438 0
hScc1 BcellGSE12603 76464222 76466023 1801 0
hScc1 BcellGSE12603 76466288 76466722 434 0
hScc1 BcellGSE12603 76467486 76467943 457 0
hScc1 BcellGSE12603 76482086 76482592 506 0
hScc1 BcellGSE12603 76483717 76485012 1295 0
hScc1 BcellGSE12603 76487738 76488695 957 0
hScc1 BcellGSE12603 76490552 76490943 391 0
hScc1 BcellGSE12603 76502200 76502461 261 0
hScc1 BcellGSE12603 76506321 76506651 330 0
hScc1 BcellGSE12603 76511072 76511317 245 0
hScc1 BcellGSE12603 76519773 76520022 249 0
hScc1 BcellGSE12603 76531378 76531684 306 0
hScc1 BcellGSE12603 76540975 76541220 245 0
hScc1 BcellGSE12603 76542134 76542353 219 0
hScc1 BcellGSE12603 76551723 76552490 767 0
hScc1 CdLSGSE12603 76193842 76194377 535 0
hScc1 CdLSGSE12603 76325918 76326639 721 0
hScc1 CdLSGSE12603 76444769 76445605 836 0
hScc1 CdLSGSE12603 76465604 76466288 684 0
hScc1 CdLSGSE12603 76479885 76480836 951 0
p130 QuiescentGSE19898 76175251 76175422 171 0
p130 QuiescentGSE19898 76176834 76176982 148 0
p130 QuiescentGSE19898 76445328 76445496 168 0
p130 SenescentGSE19898 76163835 76164144 309 0
p130 SenescentGSE19898 76444208 76444534 326 0
p130 SenescentGSE19898 76444897 76445181 284 0
p130 SenescentGSE19898 76445366 76445599 233 0
p130 SenescentGSE19898 76445675 76445968 293 0
p130 shRbQuiescentGSE19898 76133085 76133903 818 0
p130 shRbQuiescentGSE19898 76479500 76479906 406 0
p130 shRbSenescentGSE19898 76163704 76164046 342 0
p63 keratinocytesGSE17611 76163585 76164429 844 0
p63 keratinocytesGSE17611 76438998 76439951 953 0
p63 keratinocytesGSE17611 76450176 76451104 928 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
11724 mRNA raptor chr17 76133662 76554762 129 mRNA FLJ46026 chr17 76554633 76559608Sense/Antisense (SA) pairs

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


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