AutismKB 2.0

Annotation Detail for PUF60


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PUF60 ( FIR,FLJ31379,RoBPI,SIAHBP1 )
Gene Full Name: poly-U binding splicing factor 60KDa
Band: 8q24.3
Quick LinksEntrez ID:22827; OMIM: 604819; Uniprot ID:PUF60_HUMAN; ENSEMBL ID: ENSG00000179950; HGNC ID: 17042
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 body20 / 70761282
blastocyst24 / 62319385
fetus59 / 564012104
neonate0 / 310970 
infant0 / 236200 
juvenile14 / 55556251
adult264 / 1939121136
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) tumor6 / 9417863
cervical tumor12 / 34366349
chondrosarcoma5 / 8282360
colorectal tumor19 / 114246166
esophageal tumor1 / 1729057
gastrointestinal tumor51 / 119369427
germ cell tumor33 / 263845125
glioma43 / 106883402
head and neck tumor10 / 13630273
kidney tumor19 / 68959275
leukemia16 / 95842166
liver tumor17 / 96359176
lung tumor55 / 103127533
lymphoma20 / 71755278
non-neoplasia3 / 9725030
normal368 / 3360307109
ovarian tumor28 / 76682365
pancreatic tumor37 / 104616353
primitive neuroectodermal tumor of the CNS29 / 125680230
prostate cancer25 / 102680243
retinoblastoma13 / 46356280
skin tumor52 / 124949416
soft tissue/muscle tissue tumor34 / 125191271
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland3 / 3319790
ascites30 / 40015749
bladder1 / 2975733
blood25 / 123478202
bone8 / 71655111
bone marrow1 / 4880120
brain107 / 110098997
cervix15 / 48171311
connective tissue4 / 14925526
ear1 / 1621261
embryonic tissue69 / 215722319
esophagus1 / 2020949
eye41 / 211054194
heart5 / 8962655
intestine25 / 234472106
kidney32 / 211777151
larynx5 / 24145207
liver22 / 207743105
lung73 / 336974216
lymph13 / 44270293
lymph node19 / 91610207
mammary gland10 / 15327165
mouth0 / 670520 
muscle17 / 107715157
nerve5 / 15768317
ovary37 / 102051362
pancreas37 / 214812172
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta50 / 280825178
prostate31 / 189345163
salivary gland3 / 20155148
skin62 / 210574294
spleen3 / 5395255
stomach2 / 9661920
testis9 / 33044227
thymus1 / 8113112
thyroid2 / 4747342
tonsil7 / 16999411
trachea0 / 524130 
umbilical cord0 / 136800 
uterus43 / 232878184
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209899_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts739.4
Adipocyte148
AdrenalCortex126.7
Adrenalgland134.95
Amygdala305
Appendix68.05
AtrioventricularNode73.6
BDCA4+_DentriticCells462.55
Bonemarrow133.85
BronchialEpithelialCells312.35
CD105+_Endothelial340.05
CD14+_Monocytes413.95
CD19+_BCells(neg._sel.)474.2
CD33+_Myeloid310.75
CD34+402.05
CD4+_Tcells553.95
CD56+_NKCells545.25
CD71+_EarlyErythroid440.05
CD8+_Tcells408
CardiacMyocytes274.5
Caudatenucleus233.55
Cerebellum142.5
CerebellumPeduncles319.6
CiliaryGanglion76.05
CingulateCortex196.85
Colorectaladenocarcinoma214.3
DorsalRootGanglion90.95
FetalThyroid312.9
Fetalbrain251.2
Fetalliver135.85
Fetallung284.15
GlobusPallidus96.75
Heart522.8
Hypothalamus445.15
Kidney108.65
Leukemia_chronicMyelogenousK-562300.75
Leukemia_promyelocytic-HL-60228.05
Leukemialymphoblastic(MOLT-4)437.85
Liver662
Lung563.3
Lymphnode145.35
Lymphoma_burkitts(Daudi)481.6
Lymphoma_burkitts(Raji)293.4
MedullaOblongata189.15
OccipitalLobe200.2
OlfactoryBulb250.5
Ovary80
Pancreas157.45
PancreaticIslet165.75
ParietalLobe222.15
Pituitary242.25
Placenta297.8
Pons168.85
PrefrontalCortex245.55
Prostate546.3
Salivarygland102.6
SkeletalMuscle122.6
Skin69.35
SmoothMuscle310.15
Spinalcord397.55
SubthalamicNucleus100.1
SuperiorCervicalGanglion50.45
TemporalLobe209.5
Testis375.15
TestisGermCell239.75
TestisIntersitial150.7
TestisLeydigCell175.85
TestisSeminiferousTubule145.85
Thalamus336.65
Thymus422.25
Thyroid419.05
Tongue138.6
Tonsil144.65
Trachea97.65
TrigeminalGanglion41.05
Uterus245.7
UterusCorpus136
WholeBlood182.05
Wholebrain472.45
colon168.7
pineal_day356.48
pineal_night313.02
retina439.95
small_intestine150.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P9756
  • 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
Amygdala9.67 ± 0.41
Basal Forebrain9.84 ± 0.19
Basal Part of Pons10.21 ± 0.24
Cerebellar Cortex9.89 ± 0.28
Cerebellar Nuclei9.97 ± 0.22
Claustrum9.45 ± 0.51
Epithalamus10.25 ± 0.31
Frontal Lobe10.05 ± 0.27
Globus Pallidus10.11 ± 0.27
Hypothalamus9.96 ± 0.3
Insula10 ± 0.21
Limbic Lobe9.84 ± 0.48
Mesencephalon9.85 ± 0.35
Myelencephalon9.93 ± 0.36
Occipital Lobe9.54 ± 0.36
Parietal Lobe9.92 ± 0.33
Pontine Tegmentum9.89 ± 0.3
Striatum9.76 ± 0.29
Subthalamus10.02 ± 0.11
Temporal Lobe10.03 ± 0.33
Thalamus9.91 ± 0.26
White Matter10.7 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2410104I19RikCBCerebellum70.5
100
2410104I19RikCTXCerebral cortex100
100
2410104I19RikHIPHippocampal region100
100
2410104I19RikHPFHippocampal formation100
100
2410104I19RikHYHypothalamus100
100
2410104I19RikLSXLateral septal complex100
100
2410104I19RikMBMidbrain100
100
2410104I19RikMYMedulla100
100
2410104I19RikOLFOlfactory bulb100
100
2410104I19RikPPons100
100
2410104I19RikPALPallidum100
100
2410104I19RikRHPRetrohippocampal region100
100
2410104I19RiksAMYStriatum-like amygdalar nuclei100
100
2410104I19RikSTRStriatum100
100
2410104I19RikSTRdStriatum dorsal region100
100
2410104I19RikSTRvStriatum ventral region100
100
2410104I19RikTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00005894 28 468 495 NMVDPKDIDDDLEGEVTEECGKFGAVNR Peptide Atlas
PUF60_HUMAN_502 12 502 513 QGEEEDAEIIVK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved