AutismKB 2.0

Annotation Detail for UFSP2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:UFSP2 ( C4orf20,FLJ11200 )
Gene Full Name: UFM1-specific peptidase 2
Band: 4q35.1
Quick LinksEntrez ID:55325; OMIM: 611482; Uniprot ID:UFSP2_HUMAN; ENSEMBL ID: ENSG00000109775; HGNC ID: 25640
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 body1 / 7076114
blastocyst1 / 6231916
fetus26 / 56401246
neonate0 / 310970 
infant0 / 236200 
juvenile6 / 55556107
adult125 / 193912164
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor8 / 26384530
glioma0 / 1068830 
head and neck tumor8 / 13630258
kidney tumor2 / 6895929
leukemia4 / 9584241
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma6 / 7175583
non-neoplasia1 / 9725010
normal186 / 336030755
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites2 / 4001549
bladder0 / 297570 
blood10 / 12347880
bone2 / 7165527
bone marrow0 / 488010 
brain38 / 110098934
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus1 / 2020949
eye8 / 21105437
heart5 / 8962655
intestine7 / 23447229
kidney10 / 21177747
larynx0 / 241450 
liver7 / 20774333
lung8 / 33697423
lymph0 / 442700 
lymph node5 / 9161054
mammary gland7 / 15327145
mouth8 / 67052119
muscle5 / 10771546
nerve1 / 1576863
ovary0 / 1020510 
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta19 / 28082567
prostate13 / 18934568
salivary gland0 / 201550 
skin5 / 21057423
spleen1 / 5395218
stomach4 / 9661941
testis15 / 33044245
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus16 / 23287868
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218449_at
Cell line Expression level Expression bar
721_B_lymphoblasts94.45
Adipocyte22.75
AdrenalCortex24.45
Adrenalgland18.6
Amygdala23.5
Appendix23.25
AtrioventricularNode17.8
BDCA4+_DentriticCells66.2
Bonemarrow20.3
BronchialEpithelialCells26.15
CD105+_Endothelial25.05
CD14+_Monocytes23.7
CD19+_BCells(neg._sel.)30.5
CD33+_Myeloid25.7
CD34+38
CD4+_Tcells24.45
CD56+_NKCells45.4
CD71+_EarlyErythroid24.7
CD8+_Tcells41.1
CardiacMyocytes27.15
Caudatenucleus19.55
Cerebellum17.05
CerebellumPeduncles24.15
CiliaryGanglion15.25
CingulateCortex23.15
Colorectaladenocarcinoma20.7
DorsalRootGanglion18.45
FetalThyroid22.8
Fetalbrain20.85
Fetalliver17.05
Fetallung18.95
GlobusPallidus16
Heart26.65
Hypothalamus33.05
Kidney18.2
Leukemia_chronicMyelogenousK-56218.85
Leukemia_promyelocytic-HL-6020.1
Leukemialymphoblastic(MOLT-4)17.1
Liver24.5
Lung21.8
Lymphnode18.05
Lymphoma_burkitts(Daudi)36.45
Lymphoma_burkitts(Raji)31.75
MedullaOblongata19.5
OccipitalLobe21.25
OlfactoryBulb20.7
Ovary19.55
Pancreas18.05
PancreaticIslet43.7
ParietalLobe24.25
Pituitary26.6
Placenta21.2
Pons21.6
PrefrontalCortex27.15
Prostate24.05
Salivarygland18.3
SkeletalMuscle26.8
Skin17.4
SmoothMuscle32.2
Spinalcord23.9
SubthalamicNucleus20.15
SuperiorCervicalGanglion26.5
TemporalLobe20.45
Testis34.7
TestisGermCell80.75
TestisIntersitial41.05
TestisLeydigCell38.95
TestisSeminiferousTubule33.95
Thalamus23
Thymus16.15
Thyroid50.75
Tongue23.85
Tonsil21.3
Trachea18.45
TrigeminalGanglion23.5
Uterus25.5
UterusCorpus20.2
WholeBlood23.65
Wholebrain17.65
colon22.95
pineal_day120.4
pineal_night126.02
retina34.425
small_intestine20.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P41437
  • 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
Amygdala7.47 ± 0.36
Basal Forebrain7.63 ± 0.35
Basal Part of Pons7.64 ± 0.28
Cerebellar Cortex7.62 ± 0.24
Cerebellar Nuclei7.99 ± 0.24
Claustrum7.25 ± 0.44
Epithalamus8.02 ± 0.27
Frontal Lobe7.66 ± 0.42
Globus Pallidus8.21 ± 0.19
Hypothalamus7.76 ± 0.43
Insula7.7 ± 0.31
Limbic Lobe7.33 ± 0.41
Mesencephalon7.67 ± 0.4
Myelencephalon7.6 ± 0.38
Occipital Lobe7.42 ± 0.31
Parietal Lobe7.68 ± 0.33
Pontine Tegmentum7.64 ± 0.32
Striatum7.59 ± 0.33
Subthalamus7.87 ± 0.25
Temporal Lobe7.53 ± 0.25
Thalamus7.67 ± 0.36
White Matter8.79 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
1810047C23RikCBCerebellum6.82
9.4
1810047C23RikCTXCerebral cortex8.29
7
1810047C23RikHIPHippocampal region5.12
6.18
1810047C23RikHPFHippocampal formation4.21
4.58
1810047C23RikHYHypothalamus2.67
2.73
1810047C23RikLSXLateral septal complex0.49
0.61
1810047C23RikMBMidbrain9.93
11.58
1810047C23RikMYMedulla16.66
23.74
1810047C23RikOLFOlfactory bulb6.85
5.78
1810047C23RikPPons11.15
15.92
1810047C23RikPALPallidum5.38
5.87
1810047C23RikRHPRetrohippocampal region2.63
2.31
1810047C23RiksAMYStriatum-like amygdalar nuclei0.08
0.08
1810047C23RikSTRStriatum2.31
1.87
1810047C23RikSTRdStriatum dorsal region1.93
1.56
1810047C23RikSTRvStriatum ventral region6.21
4.65
1810047C23RikTHThalamus7.31
7.3
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00408017 20 329 348 EIQQALVDAGDKPATFVGSR 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