AutismKB 2.0

Annotation Detail for LRP6


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Basic Information Top
Gene Symbol:LRP6 ( ADCAD2,FLJ90062,FLJ90421 )
Gene Full Name: low density lipoprotein receptor-related protein 6
Band: 12p13.2
Quick LinksEntrez ID:4040; OMIM: 603507; Uniprot ID:LRP6_HUMAN; ENSEMBL ID: ENSG00000070018; HGNC ID: 6698
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
42N-linked (GlcNAc...) (Potential).
81N-linked (GlcNAc...) (Potential).
281N-linked (GlcNAc...) (Potential).
433N-linked (GlcNAc...) (Potential).
486N-linked (GlcNAc...) (Potential).
692N-linked (GlcNAc...) (Potential).
859N-linked (GlcNAc...) (Potential).
865N-linked (GlcNAc...) (Potential).
926N-linked (GlcNAc...) (Potential).
1039N-linked (GlcNAc...) (Potential).
1420Phosphoserine; by CK1.
1430Phosphoserine; by CK1.
1479Phosphothreonine.
1490Phosphoserine; by CDK14, GRK5 and GRK6.
1493Phosphothreonine; by CK1.
1493PPPSP motif A.
1534PPPSP motif B.
1575PPPSP motif C.
1593PPPSP motif D.
1610PPPSP motif E.
Location(AA) Modifications Resource
42N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
81N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
281N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
433N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
486N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
692N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
859N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
865N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
926N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
1039N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
14S-palmitoylHMM predict
42N-linkedHMM predict
71Phosphoserine(CK2)HMM predict
81N-linkedHMM predict
96Phosphoserine(CDC2)HMM predict
96Phosphoserine(MAPK)HMM predict
96Phosphoserine(CDK)HMM predict
281N-linkedHMM predict
284N-linkedHMM predict
300Phosphoserine(CDC2)HMM predict
343Phosphoserine(CAMK2)HMM predict
343Phosphoserine(PKG)HMM predict
373Phosphotyrosine(Jak)HMM predict
433N-linkedHMM predict
459Phosphotyrosine(Jak)HMM predict
614S-palmitoylHMM predict
646Phosphoserine(PKG)HMM predict
692N-linkedHMM predict
706SulfotyrosineHMM predict
859N-linkedHMM predict
865N-linkedHMM predict
890C-linkedHMM predict
926N-linkedHMM predict
939Phosphoserine(ATM)HMM predict
997Phosphoserine(ATM)HMM predict
1039N-linkedHMM predict
1070Phosphotyrosine(Jak)HMM predict
1202Phosphotyrosine(EGFR)HMM predict
1280PhosphoserineHMM predict
1355PhosphoserineHMM predict
1413Phosphotyrosine(Jak)HMM predict
1431Phosphoserine(IKK)HMM predict
1433Phosphoserine(IKK)HMM predict
1435Phosphoserine(IKK)HMM predict
1444Phosphoserine(PKB)HMM predict
1444Phosphoserine(IKK)HMM predict
1460Phosphotyrosine(Jak)HMM predict
1471O-linkedHMM predict
1472Phosphoserine(CK1)HMM predict
1474Phosphoserine(CK1)HMM predict
1475Phosphoserine(CK1)HMM predict
1479O-linkedHMM predict
1490O-linkedHMM predict
1490Phosphoserine(CDC2)HMM predict
1490Phosphoserine(MAPK)HMM predict
1493O-linkedHMM predict
1508Phosphoserine(CDC2)HMM predict
1510Phosphoserine(CK1)HMM predict
1530O-linkedHMM predict
1530Phosphothreonine(MAPK)HMM predict
1548Phosphothreonine(PKA)HMM predict
1548Phosphothreonine(PKC)HMM predict
1549Phosphoserine(CAMK2)HMM predict
1549Phosphoserine(PKA)HMM predict
1562Phosphotyrosine(INSR)HMM predict
1572Phosphothreonine(MAPK)HMM predict
1572O-linkedHMM predict
1572Phosphothreonine(CDK)HMM predict
1584Phosphotyrosine(Syk)HMM predict
1584Phosphotyrosine(EGFR)HMM predict
1590Phosphoserine(CDC2)HMM predict
1590PhosphoserineHMM predict
1601LeucineHMM predict
1602SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002336
  • Location:chr12 12164957-12311012
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 12310814 12312054 1240 422
FOXA1 MCF7GSE15244 12311761 12312088 327 912
Myc hESGSE17917 12317556 12317796 240 6664
NFkBII GM12878GSE19485 12310825 12312397 1572 599
NFkBII GM15510GSE19485 12310899 12312320 1421 597
NFkBII GM18526GSE19485 12310581 12312184 1603 370
PHF8 HeLaGSE20725 12310542 12312120 1578 319
TAF HelaGSE8489 12311381 12312545 1164 951
TAF k562GSE8489 12311622 12312545 923 1071
hScc1 CdLSGSE12603 12311003 12311585 582 282
hScc1 G2GSE9613 12309920 12312226 2306 61
p130 shRbQuiescentGSE19898 12310811 12311957 1146 372
p130 shRbSenescentGSE19898 12311128 12311917 789 510
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 12309956 12310620 664 0
H3K4me2 HCT116GSE10453 12308873 12310546 1673 0
H3K4me3 colorectalcancer 12309204 12310583 1379 0
H3ac HepG2E 12306791 12307004 213 0
H3ac HepG2E 12308614 12310814 2200 0
RARG MCF7GSE15244 12309843 12310489 646 0
TAF HelaGSE8489 12308614 12310489 1875 0
TAF k562GSE8489 12308873 12310453 1580 0
hScc1 BcellGSE12603 12310359 12311434 1075 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


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