AutismKB 2.0

Annotation Detail for PRPF39


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Basic Information Top
Gene Symbol:PRPF39 ( FLJ11128,FLJ20666,FLJ45460,MGC149842,MGC149843 )
Gene Full Name: PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)
Band: 14q21.2
Quick LinksEntrez ID:55015; OMIM: NA; Uniprot ID:PRP39_HUMAN; ENSEMBL ID: ENSG00000185246; HGNC ID: 20314
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 body3 / 7076142
blastocyst0 / 623190 
fetus13 / 56401223
neonate1 / 3109732
infant1 / 2362042
juvenile0 / 555560 
adult33 / 193912117
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor2 / 17290115
gastrointestinal tumor1 / 1193698
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor6 / 13630244
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal73 / 336030721
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
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 
bladder1 / 2975733
blood4 / 12347832
bone4 / 7165555
bone marrow0 / 488010 
brain25 / 110098922
cervix0 / 481710 
connective tissue1 / 1492556
ear1 / 1621261
embryonic tissue5 / 21572223
esophagus2 / 2020998
eye2 / 2110549
heart1 / 8962611
intestine5 / 23447221
kidney6 / 21177728
larynx2 / 2414582
liver4 / 20774319
lung4 / 33697411
lymph0 / 442700 
lymph node2 / 9161021
mammary gland5 / 15327132
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate3 / 18934515
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach2 / 9661920
testis10 / 33044230
thymus4 / 8113149
thyroid4 / 4747384
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220553_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.65
Adipocyte9.45
AdrenalCortex13.05
Adrenalgland9.55
Amygdala11.25
Appendix17.75
AtrioventricularNode13.35
BDCA4+_DentriticCells10.7
Bonemarrow12
BronchialEpithelialCells8.8
CD105+_Endothelial15.15
CD14+_Monocytes12.35
CD19+_BCells(neg._sel.)22.85
CD33+_Myeloid12.75
CD34+16
CD4+_Tcells21.7
CD56+_NKCells30.7
CD71+_EarlyErythroid9.4
CD8+_Tcells17.45
CardiacMyocytes24
Caudatenucleus10.7
Cerebellum8.25
CerebellumPeduncles13
CiliaryGanglion10.1
CingulateCortex10.65
Colorectaladenocarcinoma10.1
DorsalRootGanglion13.55
FetalThyroid10.75
Fetalbrain24.25
Fetalliver9.7
Fetallung16.2
GlobusPallidus8.7
Heart17.95
Hypothalamus12.1
Kidney8.75
Leukemia_chronicMyelogenousK-56212.4
Leukemia_promyelocytic-HL-6036.5
Leukemialymphoblastic(MOLT-4)18.3
Liver17.25
Lung10.35
Lymphnode25.25
Lymphoma_burkitts(Daudi)16.45
Lymphoma_burkitts(Raji)18.45
MedullaOblongata11.2
OccipitalLobe8.8
OlfactoryBulb7.8
Ovary10.45
Pancreas8.85
PancreaticIslet12.85
ParietalLobe12.3
Pituitary13.3
Placenta8.75
Pons11.4
PrefrontalCortex15.3
Prostate10.6
Salivarygland22.05
SkeletalMuscle17.6
Skin11.05
SmoothMuscle10.7
Spinalcord10.9
SubthalamicNucleus10.25
SuperiorCervicalGanglion27.45
TemporalLobe9.7
Testis8.2
TestisGermCell7.55
TestisIntersitial9.5
TestisLeydigCell10.8
TestisSeminiferousTubule8.65
Thalamus11.8
Thymus6.75
Thyroid11.1
Tongue12.85
Tonsil11.2
Trachea7.8
TrigeminalGanglion18.15
Uterus19.8
UterusCorpus12.25
WholeBlood10.2
Wholebrain6.95
colon11.3
pineal_day16.38
pineal_night12.26
retina11.975
small_intestine8.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1644_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
Amygdala6 ± 0.41
Basal Forebrain5.79 ± 0.26
Basal Part of Pons5.38 ± 0.36
Cerebellar Cortex6.02 ± 0.35
Cerebellar Nuclei5.81 ± 0.3
Claustrum5.93 ± 0.49
Epithalamus5.41 ± 0.44
Frontal Lobe5.51 ± 0.42
Globus Pallidus5.85 ± 0.34
Hypothalamus5.69 ± 0.21
Insula5.57 ± 0.34
Limbic Lobe5.93 ± 0.47
Mesencephalon5.83 ± 0.49
Myelencephalon5.75 ± 0.45
Occipital Lobe6.25 ± 0.5
Parietal Lobe5.81 ± 0.43
Pontine Tegmentum5.81 ± 0.49
Striatum6.06 ± 0.49
Subthalamus5.56 ± 0.22
Temporal Lobe5.69 ± 0.38
Thalamus5.67 ± 0.36
White Matter7.16 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Prpf39CBCerebellum10.27
10.17
Prpf39CTXCerebral cortex36.65
24.26
Prpf39HIPHippocampal region27.26
26.86
Prpf39HPFHippocampal formation35.04
31.51
Prpf39HYHypothalamus1.32
0.83
Prpf39LSXLateral septal complex1.73
1.21
Prpf39MBMidbrain3.94
3.08
Prpf39MYMedulla7.95
6.61
Prpf39OLFOlfactory bulb35.04
24.66
Prpf39PPons5.9
4.63
Prpf39PALPallidum3.18
2.32
Prpf39RHPRetrohippocampal region51.07
40.5
Prpf39sAMYStriatum-like amygdalar nuclei7.81
4.86
Prpf39STRStriatum10.96
7.34
Prpf39STRdStriatum dorsal region13.47
9.29
Prpf39STRvStriatum ventral region9.02
5.45
Prpf39THThalamus6.84
4.67
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00133483 16 468 483 HGNLEEAEHLLQDAIK 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


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