AutismKB 2.0

Annotation Detail for PRPF6


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Basic Information Top
Gene Symbol:PRPF6 ( ANT-1,C20orf14,Prp6,TOM,U5-102K,hPrp6 )
Gene Full Name: PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae)
Band: 20q13.33
Quick LinksEntrez ID:24148; OMIM: NA; Uniprot ID:PRP6_HUMAN; ENSEMBL ID: ENSG00000101161; HGNC ID: 15860
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 body9 / 70761127
blastocyst6 / 6231996
fetus48 / 56401285
neonate0 / 310970 
infant1 / 2362042
juvenile8 / 55556143
adult156 / 193912180
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma1 / 1747557
breast (mammary gland) tumor12 / 94178127
cervical tumor1 / 3436629
chondrosarcoma20 / 82823241
colorectal tumor21 / 114246183
esophageal tumor7 / 17290404
gastrointestinal tumor18 / 119369150
germ cell tumor26 / 26384598
glioma23 / 106883215
head and neck tumor7 / 13630251
kidney tumor9 / 68959130
leukemia24 / 95842250
liver tumor12 / 96359124
lung tumor19 / 103127184
lymphoma17 / 71755236
non-neoplasia2 / 9725020
normal221 / 336030765
ovarian tumor22 / 76682286
pancreatic tumor82 / 104616783
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer12 / 102680116
retinoblastoma6 / 46356129
skin tumor36 / 124949288
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites6 / 40015149
bladder1 / 2975733
blood18 / 123478145
bone6 / 7165583
bone marrow10 / 48801204
brain86 / 110098978
cervix1 / 4817120
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue21 / 21572297
esophagus7 / 20209346
eye19 / 21105490
heart2 / 8962622
intestine34 / 234472145
kidney18 / 21177784
larynx1 / 2414541
liver19 / 20774391
lung52 / 336974154
lymph17 / 44270384
lymph node11 / 91610120
mammary gland13 / 15327184
mouth0 / 670520 
muscle3 / 10771527
nerve1 / 1576863
ovary26 / 102051254
pancreas84 / 214812391
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta27 / 28082596
prostate20 / 189345105
salivary gland4 / 20155198
skin47 / 210574223
spleen4 / 5395274
stomach7 / 9661972
testis20 / 33044260
thymus0 / 811310 
thyroid5 / 47473105
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus16 / 23287868
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208879_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.05
Adipocyte4.35
AdrenalCortex4.35
Adrenalgland3.7
Amygdala4.7
Appendix4.4
AtrioventricularNode3.4
BDCA4+_DentriticCells6.6
Bonemarrow4.3
BronchialEpithelialCells4.35
CD105+_Endothelial4.5
CD14+_Monocytes4.75
CD19+_BCells(neg._sel.)5.4
CD33+_Myeloid5.75
CD34+5.7
CD4+_Tcells4.95
CD56+_NKCells6.55
CD71+_EarlyErythroid4.15
CD8+_Tcells4.95
CardiacMyocytes6
Caudatenucleus3.95
Cerebellum3.8
CerebellumPeduncles5.05
CiliaryGanglion3
CingulateCortex4.35
Colorectaladenocarcinoma7.05
DorsalRootGanglion3.35
FetalThyroid4.1
Fetalbrain4.6
Fetalliver3.8
Fetallung3.65
GlobusPallidus3.15
Heart6.55
Hypothalamus4.8
Kidney3.5
Leukemia_chronicMyelogenousK-5624
Leukemia_promyelocytic-HL-603.8
Leukemialymphoblastic(MOLT-4)3.6
Liver5.75
Lung6.15
Lymphnode4
Lymphoma_burkitts(Daudi)5.5
Lymphoma_burkitts(Raji)6.2
MedullaOblongata4
OccipitalLobe3.95
OlfactoryBulb3.3
Ovary2.9
Pancreas3.7
PancreaticIslet4.7
ParietalLobe4.7
Pituitary5.9
Placenta4.55
Pons4.15
PrefrontalCortex5.45
Prostate5.9
Salivarygland3.4
SkeletalMuscle5.4
Skin3.3
SmoothMuscle6.85
Spinalcord4.7
SubthalamicNucleus3.95
SuperiorCervicalGanglion4.95
TemporalLobe3.9
Testis3.8
TestisGermCell4.3
TestisIntersitial3.75
TestisLeydigCell4.35
TestisSeminiferousTubule3.75
Thalamus4.45
Thymus4
Thyroid5.65
Tongue4.3
Tonsil4.3
Trachea3.6
TrigeminalGanglion4.35
Uterus3.9
UterusCorpus3.95
WholeBlood4.85
Wholebrain4.5
colon4.5
pineal_day5.52
pineal_night5.34
retina5.3
small_intestine4.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P154539
  • 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
Amygdala7.65 ± 0.55
Basal Forebrain8.19 ± 0.24
Basal Part of Pons8.5 ± 0.39
Cerebellar Cortex8.55 ± 0.29
Cerebellar Nuclei8.07 ± 0.39
Claustrum7.69 ± 0.78
Epithalamus8.38 ± 0.36
Frontal Lobe8.25 ± 0.36
Globus Pallidus7.91 ± 0.11
Hypothalamus8.32 ± 0.31
Insula8.32 ± 0.21
Limbic Lobe7.86 ± 0.52
Mesencephalon8.01 ± 0.46
Myelencephalon8.08 ± 0.46
Occipital Lobe7.61 ± 0.56
Parietal Lobe8.08 ± 0.44
Pontine Tegmentum8.06 ± 0.43
Striatum7.74 ± 0.39
Subthalamus8.34 ± 0.19
Temporal Lobe8.24 ± 0.37
Thalamus8.16 ± 0.37
White Matter8.65 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Prpf6CBCerebellum34.38
59.26
Prpf6CTXCerebral cortex89.58
73.67
Prpf6HIPHippocampal region68.04
85.84
Prpf6HPFHippocampal formation72.66
86.05
Prpf6HYHypothalamus63.99
55.65
Prpf6LSXLateral septal complex71.46
56.09
Prpf6MBMidbrain59.56
61.04
Prpf6MYMedulla52.48
69.21
Prpf6OLFOlfactory bulb73.11
65.89
Prpf6PPons51.81
64.14
Prpf6PALPallidum43.49
40.05
Prpf6RHPRetrohippocampal region82.67
77.28
Prpf6sAMYStriatum-like amygdalar nuclei53.97
42.73
Prpf6STRStriatum45.43
34.09
Prpf6STRdStriatum dorsal region39.51
29.61
Prpf6STRvStriatum ventral region49.33
34.45
Prpf6THThalamus75.5
69.37
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003319 10 908 917 HGELWCAVSK Peptide Atlas
PRP6_HUMAN_136 12 136 147 PKIQQQFSDLKR 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