AutismKB 2.0

Annotation Detail for PRPF8


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Basic Information Top
Gene Symbol:PRPF8 ( HPRP8,PRP8,PRPC8,RP13 )
Gene Full Name: PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)
Band: 17p13.3
Quick LinksEntrez ID:10594; OMIM: 607300; Uniprot ID:PRP8_HUMAN; ENSEMBL ID: ENSG00000174231; HGNC ID: 17340
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 body19 / 70761268
blastocyst27 / 62319433
fetus55 / 56401297
neonate10 / 31097321
infant3 / 23620127
juvenile7 / 55556125
adult525 / 1939121270
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor64 / 94178679
cervical tumor16 / 34366465
chondrosarcoma21 / 82823253
colorectal tumor43 / 114246376
esophageal tumor2 / 17290115
gastrointestinal tumor20 / 119369167
germ cell tumor32 / 263845121
glioma22 / 106883205
head and neck tumor62 / 136302454
kidney tumor21 / 68959304
leukemia25 / 95842260
liver tumor19 / 96359197
lung tumor25 / 103127242
lymphoma18 / 71755250
non-neoplasia9 / 9725092
normal526 / 3360307156
ovarian tumor19 / 76682247
pancreatic tumor27 / 104616258
primitive neuroectodermal tumor of the CNS22 / 125680175
prostate cancer22 / 102680214
retinoblastoma27 / 46356582
skin tumor35 / 124949280
soft tissue/muscle tissue tumor17 / 125191135
uterine tumor18 / 90257199
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland4 / 33197120
ascites0 / 400150 
bladder1 / 2975733
blood21 / 123478170
bone20 / 71655279
bone marrow5 / 48801102
brain156 / 1100989141
cervix20 / 48171415
connective tissue18 / 149255120
ear0 / 162120 
embryonic tissue68 / 215722315
esophagus2 / 2020998
eye71 / 211054336
heart9 / 89626100
intestine57 / 234472243
kidney38 / 211777179
larynx19 / 24145786
liver30 / 207743144
lung45 / 336974133
lymph11 / 44270248
lymph node29 / 91610316
mammary gland83 / 153271541
mouth34 / 67052507
muscle16 / 107715148
nerve7 / 15768443
ovary26 / 102051254
pancreas41 / 214812190
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland2 / 16585120
placenta48 / 280825170
prostate45 / 189345237
salivary gland2 / 2015599
skin47 / 210574223
spleen5 / 5395292
stomach30 / 96619310
testis37 / 330442111
thymus9 / 81131110
thyroid15 / 47473315
tonsil2 / 16999117
trachea5 / 5241395
umbilical cord10 / 13680730
uterus38 / 232878163
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200000_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts679.8
Adipocyte108.25
AdrenalCortex175.8
Adrenalgland131.2
Amygdala95.5
Appendix17.1
AtrioventricularNode9.65
BDCA4+_DentriticCells400.35
Bonemarrow92.4
BronchialEpithelialCells207.4
CD105+_Endothelial362.95
CD14+_Monocytes145.3
CD19+_BCells(neg._sel.)234.5
CD33+_Myeloid268
CD34+562.9
CD4+_Tcells522.6
CD56+_NKCells295
CD71+_EarlyErythroid173.05
CD8+_Tcells416.9
CardiacMyocytes85.4
Caudatenucleus66.15
Cerebellum117.6
CerebellumPeduncles203.05
CiliaryGanglion11.55
CingulateCortex86.8
Colorectaladenocarcinoma301.05
DorsalRootGanglion15.75
FetalThyroid225.5
Fetalbrain111
Fetalliver83.75
Fetallung159.4
GlobusPallidus35.1
Heart101
Hypothalamus153.8
Kidney48.5
Leukemia_chronicMyelogenousK-562123.4
Leukemia_promyelocytic-HL-60157.95
Leukemialymphoblastic(MOLT-4)194.35
Liver129.65
Lung250.85
Lymphnode152.2
Lymphoma_burkitts(Daudi)296.85
Lymphoma_burkitts(Raji)175.8
MedullaOblongata78.85
OccipitalLobe112.6
OlfactoryBulb80.35
Ovary58.55
Pancreas29.2
PancreaticIslet162.4
ParietalLobe93.35
Pituitary259.25
Placenta208.65
Pons52.7
PrefrontalCortex206.25
Prostate266.3
Salivarygland35.4
SkeletalMuscle52.1
Skin27.65
SmoothMuscle181.3
Spinalcord90.65
SubthalamicNucleus77.25
SuperiorCervicalGanglion8.6
TemporalLobe67.8
Testis208.95
TestisGermCell194.6
TestisIntersitial147.75
TestisLeydigCell133.35
TestisSeminiferousTubule125.25
Thalamus112.35
Thymus286.9
Thyroid214.35
Tongue71.95
Tonsil118.4
Trachea61.3
TrigeminalGanglion18.85
Uterus153.5
UterusCorpus61.6
WholeBlood137.4
Wholebrain137.75
colon73.7
pineal_day859.76
pineal_night746.98
retina260.775
small_intestine78.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P38219
  • 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
Amygdala7.62 ± 0.51
Basal Forebrain7.91 ± 0.38
Basal Part of Pons8.42 ± 0.31
Cerebellar Cortex8.33 ± 0.24
Cerebellar Nuclei7.95 ± 0.26
Claustrum7.55 ± 0.46
Epithalamus8.11 ± 0.48
Frontal Lobe8.13 ± 0.35
Globus Pallidus7.24 ± 0.2
Hypothalamus8.35 ± 0.34
Insula8.12 ± 0.3
Limbic Lobe7.78 ± 0.46
Mesencephalon7.91 ± 0.37
Myelencephalon7.94 ± 0.44
Occipital Lobe7.6 ± 0.44
Parietal Lobe7.98 ± 0.4
Pontine Tegmentum7.9 ± 0.38
Striatum7.54 ± 0.36
Subthalamus8.06 ± 0.4
Temporal Lobe8.1 ± 0.36
Thalamus7.97 ± 0.36
White Matter7.4 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Prpf8CBCerebellum34.13
43.27
Prpf8CTXCerebral cortex75.72
62.35
Prpf8HIPHippocampal region47.07
77.72
Prpf8HPFHippocampal formation57
73.53
Prpf8HYHypothalamus31.21
25.27
Prpf8LSXLateral septal complex9.55
7.23
Prpf8MBMidbrain35.66
33.87
Prpf8MYMedulla42.46
50.59
Prpf8OLFOlfactory bulb64.37
56.42
Prpf8PPons44.65
51.62
Prpf8PALPallidum32.79
31.99
Prpf8RHPRetrohippocampal region80.51
71.42
Prpf8sAMYStriatum-like amygdalar nuclei56.13
46.84
Prpf8STRStriatum43.59
35.59
Prpf8STRdStriatum dorsal region43.98
35.89
Prpf8STRvStriatum ventral region54.49
43.12
Prpf8THThalamus52.27
47.38
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009938 10 433 442 EHCPAGQPVK Peptide Atlas
PRP8_HUMAN_1321 21 1321 1341 ELGGLGMLSMGHVLIPQSDLR PRIDE
PRP8_HUMAN_1851 15 1851 1865 SLPVEEQPKQIIVTR PRIDE
PRP8_HUMAN_2009 15 2009 2023 DIILGMEISAPSQQR PRIDE
PRP8_HUMAN_499 12 499 510 QGYNMLNLLIHR PRIDE
PRP8_HUMAN_728 14 728 741 VPGLPTPIENMILR 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