AutismKB 2.0

Annotation Detail for LEP


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Basic Information Top
Gene Symbol:LEP ( FLJ94114,OB,OBS )
Gene Full Name: leptin
Band: 7q32.1
Quick LinksEntrez ID:3952; OMIM: 164160; Uniprot ID:LEP_HUMAN; ENSEMBL ID: ENSG00000174697; HGNC ID: 6553
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
18Phosphotyrosine(Jak)HMM predict
50Phosphoserine(CAMK2)HMM predict
127Phosphothreonine(PKC)HMM predict
140Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000230
  • Location:chr7 127668566-127684916
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 127664007 127664774 767 4176
CTCF G2GSE9613 127667756 127668514 758 432
Oct1 H2O2-HelaGSE14283 127666119 127666152 33 2431
Oct1 HelaGSE14283 127652046 127652080 34 16504
Oct1 HelaGSE14283 127656973 127657031 58 11565
Oct1 HelaGSE14283 127666121 127666165 44 2424
P300 T0-glioblastomaGSE21026 127664046 127665083 1037 4002
P300 T30-glioblastomaGSE21026 127664001 127664992 991 4070
Rb SenescentGSE19898 127664299 127664669 370 4083
p63 keratinocytesGSE17611 127664060 127664999 939 4037
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 127684915 127685283 368 183
CTCF G2GSE9613 127693265 127693596 331 8514
CTCF G2GSE9613 127694760 127695095 335 10011
CTCF G2GSE9613 127698223 127698442 219 13416
CTCF G2GSE9613 127702944 127703229 285 18170
ER MCF7GSE19013 127687020 127687680 660 2434
FOXA1 MCF7GSE15244 127687383 127687771 388 2661
Fos K562GSE19551 127690510 127691197 687 5937
Nanog hESGSE18292 127700552 127700979 427 15849
RARA MCF7GSE15244 127687383 127688094 711 2822
TFAP2C MCF7GSE21234 127686868 127688152 1284 2594
TFAP2C MCF7GSE21234 127694030 127694829 799 9513
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 127674052 127674346 294 0
CTCF G2GSE9613 127683547 127683691 144 0
Oct1 HelaGSE14283 127673092 127673119 27 0
Rb GrowingGSE19898 127680130 127680322 192 0
Validated miRNA targets Top
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