AutismKB 2.0

Annotation Detail for TSC1


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Basic Information Top
Gene Symbol:TSC1 ( KIAA0243,LAM,MGC86987,TSC )
Gene Full Name: tuberous sclerosis 1
Band: 9q34
Quick LinksEntrez ID:7248; OMIM: 605284; Uniprot ID:TSC1_HUMAN; ENSEMBL ID: ENSG00000165699; HGNC ID: 12362
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
394Phosphoserine (By similarity).
505Phosphoserine.
511Phosphoserine.
598Phosphoserine.
1102Phosphoserine.
Location(AA) Modifications Resource
417Phosphothreonine (CDK1)Phospho.ELM 6.0
505Phosphoserine.Swiss-Prot 53.0
505PhosphoserinePhospho.ELM 6.0
584Phosphoserine (CDK1)Phospho.ELM 6.0
1047Phosphothreonine (CDK1)Phospho.ELM 6.0
Location(AA) Modification Resource
49Phosphotyrosine(Jak)HMM predict
54Phosphoserine(ATM)HMM predict
91Phosphoserine(CK1)HMM predict
108Phosphoserine(PKG)HMM predict
146Phosphoserine(CDK)HMM predict
271SulfotyrosineHMM predict
276Phosphoserine(CK1)HMM predict
295O-linkedHMM predict
297Phosphotyrosine(Syk)HMM predict
308O-linkedHMM predict
310Phosphothreonine(CDK)HMM predict
310Phosphothreonine(MAPK)HMM predict
312Phosphotyrosine(Jak)HMM predict
312Phosphotyrosine(Jak)HMM predict
313O-linkedHMM predict
331Phosphoserine(IKK)HMM predict
332Phosphoserine(CDC2)HMM predict
361O-linkedHMM predict
361Phosphoserine(CDC2)HMM predict
373Phosphotyrosine(Jak)HMM predict
373Phosphotyrosine(Syk)HMM predict
390O-linkedHMM predict
390O-linkedHMM predict
394O-linkedHMM predict
394PhosphoserineHMM predict
406Phosphotyrosine(INSR)HMM predict
417Phosphothreonine(CDK)HMM predict
417Phosphothreonine(MAPK)HMM predict
417Phosphothreonine(CDC2)HMM predict
450O-linkedHMM predict
453Phosphoserine(IKK)HMM predict
472Phosphoserine(CK1)HMM predict
487Phosphoserine(CK1)HMM predict
515Phosphoserine(ATM)HMM predict
521Phosphoserine(IKK)HMM predict
524Phosphoserine(CK1)HMM predict
526Phosphoserine(IKK)HMM predict
526Phosphoserine(ATM)HMM predict
565Phosphoserine(IKK)HMM predict
642O-linkedHMM predict
661Phosphoserine(CK1)HMM predict
682Phosphoserine(ATM)HMM predict
770Phosphothreonine(PKA)HMM predict
777Phosphoserine(CAMK2)HMM predict
829Phosphoserine(ATM)HMM predict
836Phosphoserine(PKG)HMM predict
836Phosphoserine(IKK)HMM predict
838Phosphoserine(CK1)HMM predict
840Phosphoserine(CK1)HMM predict
884Phosphotyrosine(Jak)HMM predict
905Phosphoserine(ATM)HMM predict
948Phosphotyrosine(Syk)HMM predict
955Phosphothreonine(PKA)HMM predict
1020Phosphothreonine(CDC2)HMM predict
1020Phosphothreonine(MAPK)HMM predict
1025Phosphoserine(IKK)HMM predict
1027MethylarginineHMM predict
1030Phosphoserine(PKB)HMM predict
1033MethylarginineHMM predict
1043Phosphoserine(IKK)HMM predict
1046Phosphoserine(CK1)HMM predict
1046Phosphoserine(CK2)HMM predict
1047Phosphothreonine(CDC2)HMM predict
1047Phosphothreonine(CDK)HMM predict
1071O-linkedHMM predict
1071O-linkedHMM predict
1073O-linkedHMM predict
1073Phosphoserine(IKK)HMM predict
1076O-linkedHMM predict
1077O-linkedHMM predict
1077O-linkedHMM predict
1080O-linkedHMM predict
1086Phosphoserine(IKK)HMM predict
1098N-linkedHMM predict
1114Phosphoserine(CK2)HMM predict
1141O-linkedHMM predict
1141Phosphoserine(ATM)HMM predict
1141Phosphoserine(CDK)HMM predict
1144Phosphothreonine(MAPK)HMM predict
1144Phosphothreonine(CDC2)HMM predict
1157N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000368
  • Location:chr9 134756557-134809840
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 134767001 134767440 439 0
CTCF CD4SISSRdata 134767001 134767440 439 0
KLF4 hESGSE17917 134761409 134761572 163 0
TFAP2C MCF7GSE21234 134766672 134767558 886 0
hScc1 BcellGSE12603 134757203 134757375 172 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 20978860
hsa-miR-1 hsa-mir-1-1 20 20978860
No data
Cis-Nats regulation Top

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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