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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult0 / 19391210 
embryoid body6 / 7076184
blastocyst4 / 6231964
fetus39 / 56401269
neonate16 / 31097514
infant1 / 2362042
juvenile6 / 55556107
adult223 / 1939121115
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal0 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor24 / 94178254
cervical tumor4 / 34366116
chondrosarcoma6 / 8282372
colorectal tumor26 / 114246227
esophageal tumor5 / 17290289
gastrointestinal tumor18 / 119369150
germ cell tumor70 / 263845265
glioma7 / 10688365
head and neck tumor43 / 136302315
kidney tumor6 / 6895987
leukemia10 / 95842104
liver tumor13 / 96359134
lung tumor7 / 10312767
lymphoma8 / 71755111
non-neoplasia4 / 9725041
normal358 / 3360307106
ovarian tumor5 / 7668265
pancreatic tumor36 / 104616344
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer37 / 102680360
retinoblastoma6 / 46356129
skin tumor11 / 12494988
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
adipose tissue2 / 13106152
adrenal gland14 / 33197421
ascites10 / 40015249
bladder2 / 2975767
blood4 / 12347832
bone5 / 7165569
bone marrow8 / 48801163
brain100 / 110098990
cervix5 / 48171103
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus5 / 20209247
eye7 / 21105433
heart3 / 8962633
intestine42 / 234472179
kidney23 / 211777108
larynx3 / 24145124
liver27 / 207743129
lung115 / 336974341
lymph8 / 44270180
lymph node6 / 9161065
mammary gland30 / 153271195
mouth40 / 67052596
muscle7 / 10771564
nerve2 / 15768126
ovary19 / 102051186
pancreas45 / 214812209
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta23 / 28082581
prostate46 / 189345242
salivary gland2 / 2015599
skin22 / 210574104
spleen1 / 5395218
stomach6 / 9661962
testis59 / 330442178
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea49 / 52413934
umbilical cord14 / 136801023
uterus26 / 232878111
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202068_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts91.2
Adipocyte178.7
AdrenalCortex1319.45
Adrenalgland880.35
Amygdala8.8
Appendix6.9
AtrioventricularNode4.25
BDCA4+_DentriticCells7.55
Bonemarrow5.3
BronchialEpithelialCells1015.4
CD105+_Endothelial11.1
CD14+_Monocytes12.2
CD19+_BCells(neg._sel.)5.1
CD33+_Myeloid61.15
CD34+10.7
CD4+_Tcells5.2
CD56+_NKCells21.75
CD71+_EarlyErythroid6.35
CD8+_Tcells5
CardiacMyocytes19.8
Caudatenucleus4.7
Cerebellum6.85
CerebellumPeduncles7.8
CiliaryGanglion16.65
CingulateCortex7.4
Colorectaladenocarcinoma292.6
DorsalRootGanglion13.5
FetalThyroid7.9
Fetalbrain8.6
Fetalliver26.95
Fetallung165.8
GlobusPallidus5
Heart8.65
Hypothalamus13.15
Kidney6.5
Leukemia_chronicMyelogenousK-562263.15
Leukemia_promyelocytic-HL-6024.05
Leukemialymphoblastic(MOLT-4)157.15
Liver15.4
Lung87.6
Lymphnode7.1
Lymphoma_burkitts(Daudi)71.8
Lymphoma_burkitts(Raji)27.9
MedullaOblongata6.1
OccipitalLobe4.85
OlfactoryBulb10.55
Ovary25.7
Pancreas21.45
PancreaticIslet63.8
ParietalLobe8.65
Pituitary7.95
Placenta41.05
Pons7.9
PrefrontalCortex13.1
Prostate44.45
Salivarygland4.25
SkeletalMuscle7.2
Skin4.85
SmoothMuscle136.05
Spinalcord14.65
SubthalamicNucleus7.35
SuperiorCervicalGanglion6.55
TemporalLobe5.45
Testis7.15
TestisGermCell15.3
TestisIntersitial5.05
TestisLeydigCell8.3
TestisSeminiferousTubule4.7
Thalamus6.8
Thymus6.8
Thyroid7.95
Tongue14.2
Tonsil9.05
Trachea30.75
TrigeminalGanglion11.5
Uterus24.05
UterusCorpus19.05
WholeBlood6.05
Wholebrain8.1
colon73.05
pineal_day6
pineal_night5.94
retina34.875
small_intestine34.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P208595
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala3.35 ± 0.72
Basal Forebrain3.28 ± 1
Basal Part of Pons3.61 ± 0.6
Cerebellar Cortex4.12 ± 0.48
Cerebellar Nuclei3.57 ± 0.72
Claustrum3.8 ± 0.49
Epithalamus3.21 ± 0.93
Frontal Lobe3.9 ± 0.59
Globus Pallidus2.57 ± 0.43
Hypothalamus3.23 ± 0.49
Insula3.56 ± 0.41
Limbic Lobe3.52 ± 0.76
Mesencephalon3.58 ± 0.77
Myelencephalon3.67 ± 0.71
Occipital Lobe3.17 ± 0.9
Parietal Lobe3.45 ± 0.66
Pontine Tegmentum3.58 ± 0.82
Striatum2.51 ± 0.68
Subthalamus3.39 ± 1.04
Temporal Lobe3.58 ± 0.59
Thalamus3.68 ± 0.71
White Matter4.81 ± 0.49
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
LdlrCBCerebellum2.88
2.55
LdlrCTXCerebral cortex1.59
1.24
LdlrHIPHippocampal region4.27
2.6
LdlrHPFHippocampal formation3.8
2.43
LdlrHYHypothalamus5.69
3.56
LdlrLSXLateral septal complex1.2
0.79
LdlrMBMidbrain3.54
2.65
LdlrMYMedulla13.73
10.75
LdlrOLFOlfactory bulb3.27
1.94
LdlrPPons10.81
8.04
LdlrPALPallidum1.98
1.58
LdlrRHPRetrohippocampal region2.86
2.12
LdlrsAMYStriatum-like amygdalar nuclei4.2
3.25
LdlrSTRStriatum1.09
0.78
LdlrSTRdStriatum dorsal region0.55
0.4
LdlrSTRvStriatum ventral region1.52
0.87
LdlrTHThalamus3.5
2.27
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00011764 20 831 850 TTEDEVHICHNQDGYSYPSR Peptide Atlas

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