AutismKB 2.0

Annotation Detail for PLOD1


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Basic Information Top
Gene Symbol:PLOD1 ( FLJ42041,LH,LH1,LLH,PLOD )
Gene Full Name: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1
Band: 1p36.22
Quick LinksEntrez ID:5351; OMIM: 153454; Uniprot ID:PLOD1_HUMAN; ENSEMBL ID: ENSG00000083444; HGNC ID: 9081
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 body10 / 70761141
blastocyst6 / 6231996
fetus61 / 564012108
neonate26 / 31097836
infant0 / 236200 
juvenile14 / 55556251
adult300 / 1939121154
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor25 / 94178265
cervical tumor2 / 3436658
chondrosarcoma36 / 82823434
colorectal tumor13 / 114246113
esophageal tumor8 / 17290462
gastrointestinal tumor16 / 119369134
germ cell tumor62 / 263845234
glioma20 / 106883187
head and neck tumor39 / 136302286
kidney tumor21 / 68959304
leukemia14 / 95842146
liver tumor14 / 96359145
lung tumor15 / 103127145
lymphoma9 / 71755125
non-neoplasia35 / 97250359
normal599 / 3360307178
ovarian tumor22 / 76682286
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS27 / 125680214
prostate cancer18 / 102680175
retinoblastoma2 / 4635643
skin tumor34 / 124949272
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland5 / 33197150
ascites10 / 40015249
bladder5 / 29757168
blood16 / 123478129
bone13 / 71655181
bone marrow4 / 4880181
brain182 / 1100989165
cervix10 / 48171207
connective tissue60 / 149255401
ear1 / 1621261
embryonic tissue22 / 215722101
esophagus8 / 20209395
eye20 / 21105494
heart14 / 89626156
intestine32 / 234472136
kidney85 / 211777401
larynx1 / 2414541
liver20 / 20774396
lung87 / 336974258
lymph3 / 4427067
lymph node2 / 9161021
mammary gland37 / 153271241
mouth27 / 67052402
muscle10 / 10771592
nerve3 / 15768190
ovary31 / 102051303
pancreas20 / 21481293
parathyroid0 / 205390 
pharynx5 / 41328120
pituitary gland1 / 1658560
placenta55 / 280825195
prostate36 / 189345190
salivary gland2 / 2015599
skin90 / 210574427
spleen14 / 53952259
stomach3 / 9661931
testis44 / 330442133
thymus15 / 81131184
thyroid9 / 47473189
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord6 / 13680438
uterus44 / 232878188
vascular47 / 51780907
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200827_at
Cell line Expression level Expression bar
721_B_lymphoblasts67.55
Adipocyte65.25
AdrenalCortex34.8
Adrenalgland50
Amygdala25.35
Appendix37.5
AtrioventricularNode26.4
BDCA4+_DentriticCells32.85
Bonemarrow32.75
BronchialEpithelialCells70.75
CD105+_Endothelial33.8
CD14+_Monocytes126.55
CD19+_BCells(neg._sel.)13.3
CD33+_Myeloid48.7
CD34+38.75
CD4+_Tcells18.5
CD56+_NKCells116.6
CD71+_EarlyErythroid26.3
CD8+_Tcells12.9
CardiacMyocytes682.25
Caudatenucleus30.3
Cerebellum29.55
CerebellumPeduncles36.5
CiliaryGanglion26.3
CingulateCortex42.25
Colorectaladenocarcinoma52.25
DorsalRootGanglion27.8
FetalThyroid37.6
Fetalbrain30.25
Fetalliver26.55
Fetallung68.65
GlobusPallidus24.75
Heart56.55
Hypothalamus38.25
Kidney74.95
Leukemia_chronicMyelogenousK-56242.45
Leukemia_promyelocytic-HL-6043.65
Leukemialymphoblastic(MOLT-4)19.5
Liver284.9
Lung77.7
Lymphnode31.85
Lymphoma_burkitts(Daudi)54.75
Lymphoma_burkitts(Raji)104.15
MedullaOblongata32.6
OccipitalLobe30.8
OlfactoryBulb105.75
Ovary30.75
Pancreas27
PancreaticIslet38.3
ParietalLobe35.5
Pituitary39.6
Placenta162.65
Pons28.8
PrefrontalCortex49.75
Prostate66.7
Salivarygland29.9
SkeletalMuscle44.1
Skin23.55
SmoothMuscle1441.3
Spinalcord35.65
SubthalamicNucleus30.9
SuperiorCervicalGanglion42.1
TemporalLobe30.35
Testis30.8
TestisGermCell29
TestisIntersitial30.25
TestisLeydigCell31.8
TestisSeminiferousTubule24.15
Thalamus37.95
Thymus24.6
Thyroid74.55
Tongue31.25
Tonsil26.3
Trachea31.15
TrigeminalGanglion37.1
Uterus109.5
UterusCorpus53.8
WholeBlood45.65
Wholebrain29.7
colon37.65
pineal_day42.82
pineal_night50.74
retina64.35
small_intestine39.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14542_PI416261804
  • 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
Amygdala3.26 ± 0.88
Basal Forebrain2.91 ± 0.33
Basal Part of Pons2.68 ± 0.65
Cerebellar Cortex3.15 ± 0.57
Cerebellar Nuclei3 ± 0.43
Claustrum3.36 ± 0.7
Epithalamus2.63 ± 0.48
Frontal Lobe2.87 ± 0.69
Globus Pallidus3.16 ± 0.5
Hypothalamus2.99 ± 0.68
Insula2.78 ± 0.41
Limbic Lobe2.91 ± 0.62
Mesencephalon2.94 ± 0.73
Myelencephalon2.95 ± 0.62
Occipital Lobe2.97 ± 0.71
Parietal Lobe2.84 ± 0.64
Pontine Tegmentum2.81 ± 0.62
Striatum2.73 ± 0.69
Subthalamus2.69 ± 0.38
Temporal Lobe2.8 ± 0.65
Thalamus2.81 ± 0.66
White Matter4.26 ± 0.34
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00010708 12 477 488 LDPDMAFCANIR Peptide Atlas
PLOD1_HUMAN_221 7 221 227 FEMGHVR PRIDE
PLOD1_HUMAN_402 9 402 410 NVIAPLMTR PRIDE
PLOD1_HUMAN_615 12 615 626 FLLEYIAPMTEK PRIDE

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