AutismKB 2.0

Annotation Detail for UBAC2


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Basic Information Top
Gene Symbol:UBAC2 ( FLJ26351,FLJ30001,FLJ30548,FLJ42413,MGC90487,PHGDHL1 )
Gene Full Name: UBA domain containing 2
Band: 13q32.3
Quick LinksEntrez ID:337867; OMIM: NA; Uniprot ID:UBAC2_HUMAN; ENSEMBL ID: ENSG00000134882; HGNC ID: 20486
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 body6 / 7076184
blastocyst5 / 6231980
fetus41 / 56401272
neonate1 / 3109732
infant6 / 23620254
juvenile10 / 55556179
adult184 / 193912194
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) tumor7 / 9417874
cervical tumor4 / 34366116
chondrosarcoma11 / 82823132
colorectal tumor21 / 114246183
esophageal tumor0 / 172900 
gastrointestinal tumor21 / 119369175
germ cell tumor45 / 263845170
glioma9 / 10688384
head and neck tumor13 / 13630295
kidney tumor9 / 68959130
leukemia4 / 9584241
liver tumor6 / 9635962
lung tumor7 / 10312767
lymphoma11 / 71755153
non-neoplasia12 / 97250123
normal316 / 336030794
ovarian tumor10 / 76682130
pancreatic tumor15 / 104616143
primitive neuroectodermal tumor of the CNS33 / 125680262
prostate cancer15 / 102680146
retinoblastoma1 / 4635621
skin tumor54 / 124949432
soft tissue/muscle tissue tumor24 / 125191191
uterine tumor16 / 90257177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites9 / 40015224
bladder4 / 29757134
blood12 / 12347897
bone7 / 7165597
bone marrow0 / 488010 
brain86 / 110098978
cervix5 / 48171103
connective tissue35 / 149255234
ear0 / 162120 
embryonic tissue18 / 21572283
esophagus0 / 202090 
eye14 / 21105466
heart1 / 8962611
intestine44 / 234472187
kidney21 / 21177799
larynx0 / 241450 
liver15 / 20774372
lung26 / 33697477
lymph11 / 44270248
lymph node9 / 9161098
mammary gland10 / 15327165
mouth12 / 67052178
muscle13 / 107715120
nerve2 / 15768126
ovary19 / 102051186
pancreas26 / 214812121
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta33 / 280825117
prostate25 / 189345132
salivary gland1 / 2015549
skin65 / 210574308
spleen10 / 53952185
stomach13 / 96619134
testis34 / 330442102
thymus12 / 81131147
thyroid2 / 4747342
tonsil5 / 16999294
trachea4 / 5241376
umbilical cord0 / 136800 
uterus35 / 232878150
vascular6 / 51780115
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P139998
  • 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
Amygdala4.8 ± 0.48
Basal Forebrain4.73 ± 0.51
Basal Part of Pons4.67 ± 0.44
Cerebellar Cortex4.92 ± 0.5
Cerebellar Nuclei4.28 ± 0.51
Claustrum4.33 ± 0.68
Epithalamus4.93 ± 0.42
Frontal Lobe4.92 ± 0.46
Globus Pallidus4.75 ± 0.35
Hypothalamus4.49 ± 0.41
Insula4.97 ± 0.4
Limbic Lobe4.95 ± 0.59
Mesencephalon4.77 ± 0.58
Myelencephalon4.82 ± 0.49
Occipital Lobe4.74 ± 0.41
Parietal Lobe4.81 ± 0.55
Pontine Tegmentum4.71 ± 0.55
Striatum4.65 ± 0.38
Subthalamus4.63 ± 0.33
Temporal Lobe4.91 ± 0.46
Thalamus4.75 ± 0.33
White Matter4.13 ± 0.97
Mouse Brain ISH
Peptide Top

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