AutismKB 2.0

Annotation Detail for UAP1L1


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Basic Information Top
Gene Symbol:UAP1L1 ( RP11-229P13.18 )
Gene Full Name: UDP-N-acteylglucosamine pyrophosphorylase 1-like 1
Band: 9q34.3
Quick LinksEntrez ID:91373; OMIM: NA; Uniprot ID:UAP1L_HUMAN; ENSEMBL ID: ENSG00000197355; HGNC ID: 28082
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 body0 / 707610 
blastocyst1 / 6231916
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult27 / 193912113
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal22 / 33603076
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain11 / 11009899
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine1 / 2344724
kidney1 / 2117774
larynx1 / 2414541
liver1 / 2077434
lung5 / 33697414
lymph1 / 4427022
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland1 / 2015549
skin4 / 21057418
spleen1 / 5395218
stomach0 / 966190 
testis5 / 33044215
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus1 / 2328784
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214755_at
Cell line Expression level Expression bar
721_B_lymphoblasts28.3
Adipocyte6.3
AdrenalCortex7.8
Adrenalgland5.5
Amygdala6.6
Appendix6.8
AtrioventricularNode6.4
BDCA4+_DentriticCells6.9
Bonemarrow6.7
BronchialEpithelialCells5.95
CD105+_Endothelial6.15
CD14+_Monocytes9.4
CD19+_BCells(neg._sel.)6.55
CD33+_Myeloid20.75
CD34+8
CD4+_Tcells6.65
CD56+_NKCells7.1
CD71+_EarlyErythroid5.9
CD8+_Tcells9.45
CardiacMyocytes8.65
Caudatenucleus6.65
Cerebellum5.05
CerebellumPeduncles7.05
CiliaryGanglion5.5
CingulateCortex6.8
Colorectaladenocarcinoma6.55
DorsalRootGanglion4.95
FetalThyroid6.2
Fetalbrain5.95
Fetalliver5.35
Fetallung4.95
GlobusPallidus4.95
Heart9.45
Hypothalamus7.7
Kidney5.85
Leukemia_chronicMyelogenousK-5625.55
Leukemia_promyelocytic-HL-605.65
Leukemialymphoblastic(MOLT-4)4.75
Liver8.45
Lung6.8
Lymphnode5.45
Lymphoma_burkitts(Daudi)8.35
Lymphoma_burkitts(Raji)8.95
MedullaOblongata5.6
OccipitalLobe5.55
OlfactoryBulb5.1
Ovary4.3
Pancreas5.2
PancreaticIslet7.2
ParietalLobe6.9
Pituitary7.2
Placenta6.15
Pons6.3
PrefrontalCortex8.8
Prostate7.2
Salivarygland5.2
SkeletalMuscle7.5
Skin5.25
SmoothMuscle7.05
Spinalcord10.25
SubthalamicNucleus5.75
SuperiorCervicalGanglion10.15
TemporalLobe5.7
Testis5.4
TestisGermCell5.15
TestisIntersitial5.25
TestisLeydigCell6.85
TestisSeminiferousTubule5.5
Thalamus6.75
Thymus4.7
Thyroid8.35
Tongue6.55
Tonsil6.15
Trachea5.15
TrigeminalGanglion7.85
Uterus4.95
UterusCorpus5.8
WholeBlood6.8
Wholebrain4.9
colon6.25
pineal_day14.46
pineal_night14.32
retina18.85
small_intestine6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6594_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
Amygdala2.17 ± 1.06
Basal Forebrain1.81 ± 0.22
Basal Part of Pons1.88 ± 0.97
Cerebellar Cortex1.57 ± 0.6
Cerebellar Nuclei2.13 ± 0.72
Claustrum2.55 ± 0.74
Epithalamus1.97 ± 0.48
Frontal Lobe1.74 ± 0.69
Globus Pallidus2.72 ± 0.59
Hypothalamus1.84 ± 0.67
Insula1.63 ± 0.57
Limbic Lobe1.76 ± 0.64
Mesencephalon2.08 ± 0.76
Myelencephalon1.88 ± 0.65
Occipital Lobe1.97 ± 0.74
Parietal Lobe1.95 ± 0.72
Pontine Tegmentum1.89 ± 0.68
Striatum2.12 ± 0.71
Subthalamus2.29 ± 0.29
Temporal Lobe1.82 ± 0.63
Thalamus1.89 ± 0.53
White Matter3.26 ± 0.92
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Uap1l1CBCerebellum27.53
40.83
Uap1l1CTXCerebral cortex3.62
2.9
Uap1l1HIPHippocampal region5.23
6.23
Uap1l1HPFHippocampal formation4.56
5.08
Uap1l1HYHypothalamus1
0.75
Uap1l1LSXLateral septal complex1.87
1.34
Uap1l1MBMidbrain5.31
5.48
Uap1l1MYMedulla5.27
5.73
Uap1l1OLFOlfactory bulb4.44
3.46
Uap1l1PPons4.45
4.5
Uap1l1PALPallidum0.58
0.46
Uap1l1RHPRetrohippocampal region2.8
2.64
Uap1l1sAMYStriatum-like amygdalar nuclei2.22
1.56
Uap1l1STRStriatum1.16
0.89
Uap1l1STRdStriatum dorsal region0.78
0.73
Uap1l1STRvStriatum ventral region1.45
0.82
Uap1l1THThalamus2.91
2.94
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00079861 13 106 118 VAVLLLAGGQGTR 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


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