AutismKB 2.0

Annotation Detail for LEPR


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Basic Information Top
Gene Symbol:LEPR ( CD295,DKFZp686B1731,OBR )
Gene Full Name: leptin receptor
Band: 1p31.3
Quick LinksEntrez ID:3953; OMIM: 601007; Uniprot ID:LEPR_HUMAN; ENSEMBL ID: ENSG00000116678; HGNC ID: 6554
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
23N-linked (GlcNAc...).
41N-linked (GlcNAc...).
56N-linked (GlcNAc...).
73N-linked (GlcNAc...).
81N-linked (GlcNAc...).
98N-linked (GlcNAc...).
187N-linked (GlcNAc...).
206N-linked (GlcNAc...).
276N-linked (GlcNAc...).
347N-linked (GlcNAc...).
397N-linked (GlcNAc...).
516N-linked (GlcNAc...).
624N-linked (GlcNAc...).
626WSXWS motif.
659N-linked (GlcNAc...).
688N-linked (GlcNAc...).
697N-linked (GlcNAc...).
728N-linked (GlcNAc...).
750N-linked (GlcNAc...).
879Box 1 motif.
986Phosphotyrosine; by JAK2 (By similarity).
1141Phosphotyrosine; by JAK2 (By similarity).
Location(AA) Modifications Resource
23N-linked (GlcNAc...).Swiss-Prot 53.0
41N-linked (GlcNAc...).Swiss-Prot 53.0
56N-linked (GlcNAc...).Swiss-Prot 53.0
73N-linked (GlcNAc...).Swiss-Prot 53.0
81N-linked (GlcNAc...).Swiss-Prot 53.0
98N-linked (GlcNAc...).Swiss-Prot 53.0
187N-linked (GlcNAc...).Swiss-Prot 53.0
206N-linked (GlcNAc...).Swiss-Prot 53.0
276N-linked (GlcNAc...).Swiss-Prot 53.0
347N-linked (GlcNAc...).Swiss-Prot 53.0
397N-linked (GlcNAc...).Swiss-Prot 53.0
516N-linked (GlcNAc...).Swiss-Prot 53.0
624N-linked (GlcNAc...).Swiss-Prot 53.0
659N-linked (GlcNAc...).Swiss-Prot 53.0
688N-linked (GlcNAc...).Swiss-Prot 53.0
697N-linked (GlcNAc...).Swiss-Prot 53.0
728N-linked (GlcNAc...).Swiss-Prot 53.0
750N-linked (GlcNAc...).Swiss-Prot 53.0
986Phosphotyrosine (by JAK2) (Bysimilarity).Swiss-Prot 53.0
1141Phosphotyrosine (by JAK2) (Bysimilarity).Swiss-Prot 53.0
1141PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
7S-palmitoylHMM predict
41N-linkedHMM predict
46SulfotyrosineHMM predict
73N-linkedHMM predict
80O-linkedHMM predict
81N-linkedHMM predict
89S-palmitoylHMM predict
90S-palmitoylHMM predict
98N-linkedHMM predict
187N-linkedHMM predict
206N-linkedHMM predict
248Phosphothreonine(CK2)HMM predict
276N-linkedHMM predict
319C-linkedHMM predict
347N-linkedHMM predict
381Phosphotyrosine(Syk)HMM predict
397N-linkedHMM predict
407Phosphotyrosine(EGFR)HMM predict
452O-linkedHMM predict
524Phosphoserine(IKK)HMM predict
541Phosphoserine(CDC2)HMM predict
595Phosphoserine(IKK)HMM predict
622C-linkedHMM predict
624N-linkedHMM predict
627N-linkedHMM predict
630Phosphotyrosine(SRC)HMM predict
670N-linkedHMM predict
688N-linkedHMM predict
697N-linkedHMM predict
728N-linkedHMM predict
765Phosphotyrosine(Syk)HMM predict
765Phosphotyrosine(INSR)HMM predict
880N-linkedHMM predict
923Phosphoserine(ATM)HMM predict
923Phosphoserine(CK1)HMM predict
941O-linkedHMM predict
978Phosphoserine(ATM)HMM predict
986Phosphotyrosine(Jak)HMM predict
1006N-linkedHMM predict
1018Phosphoserine(CDC2)HMM predict
1023Phosphoserine(IKK)HMM predict
1025Phosphoserine(CK1)HMM predict
1026N-linkedHMM predict
1133Phosphoserine(CDC2)HMM predict
1149SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001003680
  • Location:chr1 65658905-65868680
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 65657225 65658335 1110 1126
TFAP2C MCF7GSE21234 65658427 65658792 365 296
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 65687585 65687788 203 0
CTCF G2GSE9613 65697401 65698007 606 0
CTCF G2GSE9613 65763685 65764225 540 0
FoxA1 MCF7MACSdata 65705952 65706053 101 0
FoxA1 MCF7MACSdata 65732080 65732346 266 0
H3K27me3 colorectalcancer 65764514 65764836 322 0
Myc K562GSE19551 65719103 65719636 533 0
Oct1 HelaGSE14283 65828890 65828916 26 0
Oct4 hESGSE17917 65682514 65682902 388 0
Oct4 hESGSE21916 65682443 65682812 369 0
SRF HepG2GSE8489 65773399 65773612 213 0
STAT1 HeLaGSE12783 65814698 65815868 1170 0
TAF k562GSE8489 65716055 65717361 1306 0
TAF k562GSE8489 65717780 65718750 970 0
TAF k562GSE8489 65764537 65766173 1636 0
hScc1 BcellGSE12603 65697513 65697973 460 0
hScc1 BcellGSE12603 65763560 65764318 758 0
hScc1 CdLSGSE12603 65697549 65698007 458 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