AutismKB 2.0

Annotation Detail for LDLR


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Basic Information Top
Gene Symbol:LDLR ( FH,FHC,LDLCQ2 )
Gene Full Name: low density lipoprotein receptor
Band: 19p13.2
Quick LinksEntrez ID:3949; OMIM: 606945; Uniprot ID:LDLR_HUMAN; ENSEMBL ID: ENSG00000130164; HGNC ID: 6547
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
97N-linked (GlcNAc...) (Potential).
156N-linked (GlcNAc...).
272N-linked (GlcNAc...).
515N-linked (GlcNAc...) (Potential).
657N-linked (GlcNAc...).
828Endocytosis signal (Potential).
845Phosphotyrosine.
847Phosphotyrosine.
Location(AA) Modifications Resource
97N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
156N-linked (GlcNAc...).Swiss-Prot 53.0
272N-linked (GlcNAc...).Swiss-Prot 53.0
515N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
657N-linked (GlcNAc...).Swiss-Prot 53.0
845Phosphotyrosine.Swiss-Prot 53.0
845PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
59Phosphoserine(IKK)HMM predict
59Phosphoserine(ATM)HMM predict
97N-linkedHMM predict
156N-linkedHMM predict
209S-palmitoylHMM predict
272N-linkedHMM predict
413Phosphothreonine(PKC)HMM predict
413Phosphothreonine(PKA)HMM predict
419Phosphotyrosine(INSR)HMM predict
515N-linkedHMM predict
584Phosphoserine(CK1)HMM predict
648Phosphoserine(ATM)HMM predict
657N-linkedHMM predict
671Phosphothreonine(PKA)HMM predict
679Phosphotyrosine(Jak)HMM predict
803S-palmitoylHMM predict
828Phosphotyrosine(EGFR)HMM predict
832Phosphothreonine(CK2)HMM predict
845Phosphotyrosine(INSR)HMM predict
845Phosphotyrosine(Abl)HMM predict
845Phosphotyrosine(Jak)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000527
  • Location:chr19 11061131-11105489
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 11050549 11050831 282 10442
STAT1 HeLaGSE12783 11056520 11058260 1740 3742
STAT1 IFNSISSRdata 11057031 11057845 814 3694
p130 QuiescentGSE19898 11060922 11061247 325 47
p130 SenescentGSE19898 11060693 11061441 748 65
p130 shRbSenescentGSE19898 11057186 11057408 222 3835
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 11109435 11109731 296 4094
CTCF CD4SISSRdata 11109435 11109731 296 4094
CTCF HelaGSE12889 11109429 11109688 259 4069
Rb GrowingGSE19898 11109438 11109699 261 4079
Rb GrowingGSE19898 11110197 11110410 213 4814
Rb QuiescentGSE19898 11109341 11109937 596 4150
Rb SenescentGSE19898 11109339 11109854 515 4107
TFAP2C MCF7GSE21234 11109285 11111301 2016 4804
hScc1 BcellGSE12603 11109477 11110569 1092 4534
hScc1 CdLSGSE12603 11109477 11110018 541 4258
p130 QuiescentGSE19898 11109369 11109770 401 4080
p130 SenescentGSE19898 11109354 11109872 518 4124
p130 shRbQuiescentGSE19898 11109189 11110128 939 4169
p130 shRbSenescentGSE19898 11109319 11109711 392 4026
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 11097845 11098124 279 0
CTCF CD4GSE12889 11102584 11102922 338 0
CTCF CD4SISSRdata 11097845 11098124 279 0
CTCF CD4SISSRdata 11102584 11102922 338 0
CTCF G2GSE9613 11102590 11103011 421 0
FOXA1 MCF7GSE15244 11066429 11067038 609 0
Fos K562GSE19551 11066490 11067234 744 0
FoxA1 MCF7MACSdata 11066769 11067018 249 0
H3ac HepG2E 11062404 11063771 1367 0
Oct1 H2O2-HelaGSE14283 11092980 11093007 27 0
PHF8 HeLaGSE20725 11060770 11061578 808 0
Pol2 GM12878GSE19551 11060718 11062762 2044 0
PolII HeLaGSE12783 11059825 11068758 8933 0
Rb GrowingGSE19898 11094712 11094850 138 0
Rb QuiescentGSE19898 11061042 11061315 273 0
Rb SenescentGSE19898 11060926 11061376 450 0
Rb SenescentGSE19898 11061955 11062508 553 0
TAF HelaGSE8489 11062562 11063807 1245 0
TAF k562GSE8489 11062623 11064091 1468 0
TAF k562GSE8489 11070754 11071083 329 0
TFAP2C MCF7GSE21234 11063395 11063880 485 0
TFAP2C MCF7GSE21234 11083456 11083852 396 0
USF2 HepG2E 11064425 11064674 249 0
hScc1 BcellGSE12603 11076770 11076981 211 0
hScc1 BcellGSE12603 11084854 11085038 184 0
hScc1 CdLSGSE12603 11102590 11102938 348 0
p130 QuiescentGSE19898 11063134 11063860 726 0
p130 SenescentGSE19898 11061757 11062071 314 0
p130 SenescentGSE19898 11062142 11062321 179 0
p130 SenescentGSE19898 11062405 11062618 213 0
p130 SenescentGSE19898 11063486 11063819 333 0
p130 shRbQuiescentGSE19898 11062236 11063690 1454 0
p130 shRbSenescentGSE19898 11060939 11061328 389 0
p130 shRbSenescentGSE19898 11061408 11061628 220 0
p130 shRbSenescentGSE19898 11061877 11062169 292 0
p130 shRbSenescentGSE19898 11062207 11062946 739 0
p130 shRbSenescentGSE19898 11063121 11064035 914 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
12703 mRNA LDLR chr19 11061131 11105490 88 EST chr19 11103195 11127450Sense/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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