AutismKB 2.0

Annotation Detail for U2AF2


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Basic Information Top
Gene Symbol:U2AF2 ( U2AF65 )
Gene Full Name: U2 small nuclear RNA auxiliary factor 2
Band: 19q13.43
Quick LinksEntrez ID:11338; OMIM: 191318; Uniprot ID:U2AF2_HUMAN; ENSEMBL ID: ENSG00000063244; HGNC ID: 23156
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
blastocyst5 / 6231980
fetus39 / 56401269
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult89 / 193912145
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor8 / 26384530
glioma14 / 106883130
head and neck tumor12 / 13630288
kidney tumor2 / 6895929
leukemia9 / 9584293
liver tumor0 / 963590 
lung tumor5 / 10312748
lymphoma7 / 7175597
non-neoplasia0 / 972500 
normal152 / 336030745
ovarian tumor8 / 76682104
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer11 / 102680107
retinoblastoma2 / 4635643
skin tumor5 / 12494940
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites4 / 4001599
bladder2 / 2975767
blood2 / 12347816
bone4 / 7165555
bone marrow0 / 488010 
brain27 / 110098924
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye28 / 211054132
heart2 / 8962622
intestine13 / 23447255
kidney10 / 21177747
larynx3 / 24145124
liver2 / 2077439
lung17 / 33697450
lymph5 / 44270112
lymph node21 / 91610229
mammary gland13 / 15327184
mouth1 / 6705214
muscle9 / 10771583
nerve0 / 157680 
ovary8 / 10205178
pancreas10 / 21481246
parathyroid1 / 2053948
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta5 / 28082517
prostate18 / 18934595
salivary gland5 / 20155248
skin7 / 21057433
spleen3 / 5395255
stomach3 / 9661931
testis5 / 33044215
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218382_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.25
Adipocyte5.6
AdrenalCortex5.9
Adrenalgland4.7
Amygdala5.85
Appendix5.7
AtrioventricularNode4.5
BDCA4+_DentriticCells6.7
Bonemarrow5.7
BronchialEpithelialCells5.65
CD105+_Endothelial5.75
CD14+_Monocytes5.6
CD19+_BCells(neg._sel.)6.1
CD33+_Myeloid7.3
CD34+7.1
CD4+_Tcells6.1
CD56+_NKCells6.7
CD71+_EarlyErythroid5.25
CD8+_Tcells5.5
CardiacMyocytes7.15
Caudatenucleus5
Cerebellum4.45
CerebellumPeduncles6.4
CiliaryGanglion4.25
CingulateCortex5.7
Colorectaladenocarcinoma5.95
DorsalRootGanglion4.35
FetalThyroid5.6
Fetalbrain5.7
Fetalliver5.05
Fetallung4.65
GlobusPallidus4.15
Heart8.95
Hypothalamus6.05
Kidney4.75
Leukemia_chronicMyelogenousK-5625.1
Leukemia_promyelocytic-HL-605
Leukemialymphoblastic(MOLT-4)5.5
Liver7.45
Lung6.3
Lymphnode5.3
Lymphoma_burkitts(Daudi)7.2
Lymphoma_burkitts(Raji)8.4
MedullaOblongata5.15
OccipitalLobe4.95
OlfactoryBulb4.3
Ovary3.75
Pancreas4.55
PancreaticIslet6
ParietalLobe5.8
Pituitary11.75
Placenta5.9
Pons5.35
PrefrontalCortex7.1
Prostate6.7
Salivarygland4.5
SkeletalMuscle6.6
Skin4.4
SmoothMuscle6.1
Spinalcord5.9
SubthalamicNucleus5.15
SuperiorCervicalGanglion6.9
TemporalLobe5.15
Testis4.8
TestisGermCell4.7
TestisIntersitial4.9
TestisLeydigCell5.55
TestisSeminiferousTubule5.1
Thalamus5.65
Thymus5.65
Thyroid7.1
Tongue5.55
Tonsil5.55
Trachea4.75
TrigeminalGanglion5.9
Uterus4.7
UterusCorpus5.35
WholeBlood6.35
Wholebrain6.1
colon5.7
pineal_day6.94
pineal_night6.68
retina6.525
small_intestine5.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13852_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
Amygdala3.76 ± 0.74
Basal Forebrain3.3 ± 0.3
Basal Part of Pons3.34 ± 0.28
Cerebellar Cortex4.04 ± 0.49
Cerebellar Nuclei3.47 ± 0.52
Claustrum3.62 ± 0.62
Epithalamus3.83 ± 0.42
Frontal Lobe3.75 ± 0.49
Globus Pallidus3.62 ± 0.57
Hypothalamus3.74 ± 0.75
Insula3.9 ± 0.37
Limbic Lobe3.69 ± 0.56
Mesencephalon3.71 ± 0.57
Myelencephalon3.74 ± 0.59
Occipital Lobe3.5 ± 0.62
Parietal Lobe3.74 ± 0.55
Pontine Tegmentum3.78 ± 0.53
Striatum3.75 ± 0.5
Subthalamus3.63 ± 0.81
Temporal Lobe3.79 ± 0.52
Thalamus3.64 ± 0.53
White Matter4.26 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
U2af2CBCerebellum8.9
11.99
U2af2CTXCerebral cortex57.48
50.7
U2af2HIPHippocampal region64.37
100
U2af2HPFHippocampal formation55.51
79.74
U2af2HYHypothalamus4.05
3.69
U2af2LSXLateral septal complex2.02
2.05
U2af2MBMidbrain8.03
9.43
U2af2MYMedulla2.84
3.99
U2af2OLFOlfactory bulb30.31
29.04
U2af2PPons2.13
3.24
U2af2PALPallidum9.48
8.95
U2af2RHPRetrohippocampal region36.46
32.68
U2af2sAMYStriatum-like amygdalar nuclei23.93
17.97
U2af2STRStriatum18.02
14.1
U2af2STRdStriatum dorsal region18.14
14.45
U2af2STRvStriatum ventral region21.66
16.02
U2af2THThalamus14.16
14.91
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003786 13 432 444 IFVEFTSVFDCQK Peptide Atlas
U2AF2_HUMAN_1 8 1 8 SDFDEFER PRIDE
U2AF2_HUMAN_10 9 10 18 QLNENKQER PRIDE
U2AF2_HUMAN_129 18 129 146 GLAVTPTPVPVVGSQMTR PRIDE
U2AF2_HUMAN_2 8 2 9 SDFDEFER PRIDE
U2AF2_HUMAN_260 26 260 285 LFIGGLPNYLNDDQVKELLTSFGPLK 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