AutismKB 2.0

Annotation Detail for UBAC1


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Basic Information Top
Gene Symbol:UBAC1 ( GBDR1,RP11-432J22.3,UBADC1 )
Gene Full Name: UBA domain containing 1
Band: 9q34.3
Quick LinksEntrez ID:10422; OMIM: 608129; Uniprot ID:UBAC1_HUMAN; ENSEMBL ID: ENSG00000130560; HGNC ID: 30221
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
blastocyst1 / 6231916
fetus30 / 56401253
neonate0 / 310970 
infant3 / 23620127
juvenile1 / 5555617
adult136 / 193912170
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) tumor5 / 9417853
cervical tumor4 / 34366116
chondrosarcoma5 / 8282360
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor8 / 26384530
glioma5 / 10688346
head and neck tumor4 / 13630229
kidney tumor5 / 6895972
leukemia11 / 95842114
liver tumor1 / 9635910
lung tumor8 / 10312777
lymphoma19 / 71755264
non-neoplasia1 / 9725010
normal169 / 336030750
ovarian tumor5 / 7668265
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor8 / 12494964
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood11 / 12347889
bone9 / 71655125
bone marrow1 / 4880120
brain37 / 110098933
cervix4 / 4817183
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye11 / 21105452
heart9 / 89626100
intestine5 / 23447221
kidney7 / 21177733
larynx0 / 241450 
liver10 / 20774348
lung20 / 33697459
lymph15 / 44270338
lymph node2 / 9161021
mammary gland9 / 15327158
mouth2 / 6705229
muscle9 / 10771583
nerve3 / 15768190
ovary6 / 10205158
pancreas12 / 21481255
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta39 / 280825138
prostate4 / 18934521
salivary gland0 / 201550 
skin10 / 21057447
spleen4 / 5395274
stomach5 / 9661951
testis14 / 33044242
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus21 / 23287890
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202151_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts128.3
Adipocyte29.15
AdrenalCortex12.15
Adrenalgland24.8
Amygdala50.15
Appendix9.9
AtrioventricularNode8.25
BDCA4+_DentriticCells33.7
Bonemarrow117.3
BronchialEpithelialCells62.9
CD105+_Endothelial848.3
CD14+_Monocytes112.6
CD19+_BCells(neg._sel.)37.1
CD33+_Myeloid83.6
CD34+118.15
CD4+_Tcells36.05
CD56+_NKCells40.85
CD71+_EarlyErythroid1716.9
CD8+_Tcells31.6
CardiacMyocytes27.85
Caudatenucleus33.15
Cerebellum40.8
CerebellumPeduncles37.15
CiliaryGanglion5.95
CingulateCortex32.55
Colorectaladenocarcinoma127.05
DorsalRootGanglion9.35
FetalThyroid32.1
Fetalbrain56.6
Fetalliver188.55
Fetallung39.8
GlobusPallidus14.9
Heart139.95
Hypothalamus55.15
Kidney25.55
Leukemia_chronicMyelogenousK-562584.25
Leukemia_promyelocytic-HL-6031.15
Leukemialymphoblastic(MOLT-4)32.2
Liver110.7
Lung58.75
Lymphnode22.75
Lymphoma_burkitts(Daudi)42.4
Lymphoma_burkitts(Raji)50.7
MedullaOblongata30.5
OccipitalLobe28.6
OlfactoryBulb18.7
Ovary10.1
Pancreas12.7
PancreaticIslet20.9
ParietalLobe31
Pituitary14
Placenta41.05
Pons22.05
PrefrontalCortex49.9
Prostate55.8
Salivarygland13.95
SkeletalMuscle67.45
Skin12.25
SmoothMuscle28.05
Spinalcord44.05
SubthalamicNucleus26.35
SuperiorCervicalGanglion6.85
TemporalLobe23.5
Testis110.95
TestisGermCell58.5
TestisIntersitial66.4
TestisLeydigCell29.35
TestisSeminiferousTubule39.9
Thalamus31.45
Thymus33.7
Thyroid95.8
Tongue39.8
Tonsil26.9
Trachea27.85
TrigeminalGanglion8.8
Uterus23.5
UterusCorpus15.8
WholeBlood40.25
Wholebrain145
colon33.55
pineal_day38.12
pineal_night41.22
retina52.8
small_intestine27.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_476_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
Amygdala2.65 ± 0.93
Basal Forebrain2.49 ± 0.58
Basal Part of Pons2.63 ± 0.55
Cerebellar Cortex2.74 ± 0.71
Cerebellar Nuclei2.94 ± 1.02
Claustrum2.88 ± 0.88
Epithalamus2.44 ± 0.42
Frontal Lobe2.57 ± 0.61
Globus Pallidus2.95 ± 0.53
Hypothalamus2.35 ± 0.63
Insula2.23 ± 0.83
Limbic Lobe2.61 ± 0.68
Mesencephalon2.65 ± 0.85
Myelencephalon2.57 ± 0.69
Occipital Lobe2.73 ± 0.86
Parietal Lobe2.7 ± 0.62
Pontine Tegmentum2.59 ± 0.74
Striatum2.54 ± 0.86
Subthalamus2.52 ± 0.52
Temporal Lobe2.51 ± 0.75
Thalamus2.56 ± 0.63
White Matter2.68 ± 0.56
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ubadc1CBCerebellum1.44
1.96
Ubadc1CTXCerebral cortex1.95
1.34
Ubadc1HIPHippocampal region1.55
1.48
Ubadc1HPFHippocampal formation1.39
1.26
Ubadc1HYHypothalamus0.27
0.22
Ubadc1LSXLateral septal complex0
0
Ubadc1MBMidbrain0.43
0.62
Ubadc1MYMedulla1.27
1.56
Ubadc1OLFOlfactory bulb4.53
3.73
Ubadc1PPons0.93
1.33
Ubadc1PALPallidum0.35
0.28
Ubadc1RHPRetrohippocampal region1.13
0.92
Ubadc1sAMYStriatum-like amygdalar nuclei0.59
0.68
Ubadc1STRStriatum0.43
0.53
Ubadc1STRdStriatum dorsal region0.25
0.46
Ubadc1STRvStriatum ventral region1.12
0.83
Ubadc1THThalamus0.47
0.51
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00068327 26 339 364 GIDPDSPLFQAILDNPVVQLGLTNPK Peptide Atlas
UBAC1_HUMAN_1 15 1 15 MFVQEEKIFAGKVLR 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


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