AutismKB 2.0

Annotation Detail for PRIM1


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Basic Information Top
Gene Symbol:PRIM1 ( MGC12308,p49 )
Gene Full Name: primase, DNA, polypeptide 1 (49kDa)
Band: 12q13.3
Quick LinksEntrez ID:5557; OMIM: 176635; Uniprot ID:PRI1_HUMAN; ENSEMBL ID: ENSG00000198056; HGNC ID: 9369
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 body2 / 7076128
blastocyst3 / 6231948
fetus9 / 56401215
neonate0 / 310970 
infant4 / 23620169
juvenile1 / 5555617
adult39 / 193912120
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma4 / 17475228
breast (mammary gland) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor8 / 26384530
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor3 / 9635931
lung tumor4 / 10312738
lymphoma4 / 7175555
non-neoplasia3 / 9725030
normal57 / 336030716
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer0 / 1026800 
retinoblastoma7 / 46356151
skin tumor1 / 1249498
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 
ascites1 / 4001524
bladder4 / 29757134
blood5 / 12347840
bone1 / 7165513
bone marrow3 / 4880161
brain12 / 110098910
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye10 / 21105447
heart2 / 8962622
intestine8 / 23447234
kidney3 / 21177714
larynx2 / 2414582
liver3 / 20774314
lung10 / 33697429
lymph1 / 4427022
lymph node4 / 9161043
mammary gland1 / 1532716
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta2 / 2808257
prostate10 / 18934552
salivary gland1 / 2015549
skin2 / 2105749
spleen0 / 539520 
stomach1 / 9661910
testis4 / 33044212
thymus1 / 8113112
thyroid0 / 474730 
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205053_at
Cell line Expression level Expression bar
721_B_lymphoblasts201.7
Adipocyte3.9
AdrenalCortex4.1
Adrenalgland4.45
Amygdala4.05
Appendix3.9
AtrioventricularNode3
BDCA4+_DentriticCells12.45
Bonemarrow3.85
BronchialEpithelialCells3.85
CD105+_Endothelial110.6
CD14+_Monocytes4.15
CD19+_BCells(neg._sel.)15.2
CD33+_Myeloid5.35
CD34+111
CD4+_Tcells24.4
CD56+_NKCells13.65
CD71+_EarlyErythroid199.85
CD8+_Tcells15
CardiacMyocytes5
Caudatenucleus3.55
Cerebellum3.85
CerebellumPeduncles4.45
CiliaryGanglion2.8
CingulateCortex4
Colorectaladenocarcinoma21.8
DorsalRootGanglion2.95
FetalThyroid4.05
Fetalbrain4.85
Fetalliver6.15
Fetallung3.2
GlobusPallidus2.9
Heart5
Hypothalamus4.25
Kidney3.2
Leukemia_chronicMyelogenousK-56241.1
Leukemia_promyelocytic-HL-6043.65
Leukemialymphoblastic(MOLT-4)125.8
Liver5.1
Lung4.3
Lymphnode4.35
Lymphoma_burkitts(Daudi)93.7
Lymphoma_burkitts(Raji)5.45
MedullaOblongata3.6
OccipitalLobe3.55
OlfactoryBulb3.1
Ovary2.6
Pancreas3.15
PancreaticIslet4.15
ParietalLobe4.15
Pituitary4.55
Placenta4
Pons3.8
PrefrontalCortex4.95
Prostate4.55
Salivarygland3.15
SkeletalMuscle4.65
Skin3.05
SmoothMuscle4.65
Spinalcord4.2
SubthalamicNucleus3.6
SuperiorCervicalGanglion4.85
TemporalLobe3.6
Testis3.85
TestisGermCell3.35
TestisIntersitial3.6
TestisLeydigCell3.9
TestisSeminiferousTubule4.2
Thalamus4
Thymus3.4
Thyroid4.9
Tongue3.8
Tonsil4
Trachea3.3
TrigeminalGanglion3.9
Uterus3.2
UterusCorpus3.55
WholeBlood7.05
Wholebrain3.8
colon4.05
pineal_day4.86
pineal_night4.76
retina4.7
small_intestine3.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5530_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
Amygdala5.43 ± 0.76
Basal Forebrain5.34 ± 0.27
Basal Part of Pons5.46 ± 0.34
Cerebellar Cortex5.92 ± 0.26
Cerebellar Nuclei5.62 ± 0.37
Claustrum5.26 ± 0.73
Epithalamus5.56 ± 0.38
Frontal Lobe5.37 ± 0.45
Globus Pallidus5.8 ± 0.59
Hypothalamus4.98 ± 0.74
Insula5.32 ± 0.33
Limbic Lobe5.15 ± 0.48
Mesencephalon5.47 ± 0.52
Myelencephalon5.44 ± 0.51
Occipital Lobe5.42 ± 0.38
Parietal Lobe5.49 ± 0.5
Pontine Tegmentum5.27 ± 0.55
Striatum5.13 ± 0.44
Subthalamus5.53 ± 0.4
Temporal Lobe5.24 ± 0.44
Thalamus5.48 ± 0.46
White Matter6.38 ± 0.57
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00080072 11 394 404 VFEHFLENLDK Peptide Atlas
PRI1_HUMAN_1 18 1 18 METFDPTELPELLKLYYR 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


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