AutismKB 2.0

Annotation Detail for UACA


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Basic Information Top
Gene Symbol:UACA ( FLJ10128,KIAA1561,MGC141967,MGC141969,NUCLING )
Gene Full Name: uveal autoantigen with coiled-coil domains and ankyrin repeats
Band: 15q23
Quick LinksEntrez ID:55075; OMIM: 612516; Uniprot ID:UACA_HUMAN; ENSEMBL ID: ENSG00000137831; HGNC ID: 15947
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 body5 / 7076170
blastocyst5 / 6231980
fetus27 / 56401247
neonate2 / 3109764
infant0 / 236200 
juvenile2 / 5555635
adult85 / 193912143
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma9 / 82823108
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor12 / 13630288
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor10 / 96359103
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia3 / 9725030
normal141 / 336030741
ovarian tumor8 / 76682104
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland3 / 3319790
ascites1 / 4001524
bladder2 / 2975767
blood0 / 1234780 
bone5 / 7165569
bone marrow0 / 488010 
brain16 / 110098914
cervix0 / 481710 
connective tissue14 / 14925593
ear2 / 16212123
embryonic tissue18 / 21572283
esophagus1 / 2020949
eye16 / 21105475
heart7 / 8962678
intestine12 / 23447251
kidney13 / 21177761
larynx3 / 24145124
liver15 / 20774372
lung16 / 33697447
lymph2 / 4427045
lymph node0 / 916100 
mammary gland5 / 15327132
mouth6 / 6705289
muscle7 / 10771564
nerve0 / 157680 
ovary5 / 10205148
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate5 / 18934526
salivary gland0 / 201550 
skin8 / 21057437
spleen3 / 5395255
stomach5 / 9661951
testis12 / 33044236
thymus1 / 8113112
thyroid4 / 4747384
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus11 / 23287847
vascular8 / 51780154
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P290585
  • 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
Amygdala5.16 ± 0.68
Basal Forebrain5.84 ± 0.49
Basal Part of Pons5.13 ± 0.49
Cerebellar Cortex5.25 ± 0.32
Cerebellar Nuclei6.2 ± 0.41
Claustrum5.54 ± 0.56
Epithalamus6.42 ± 0.51
Frontal Lobe5.63 ± 0.61
Globus Pallidus7.23 ± 0.34
Hypothalamus5.33 ± 0.26
Insula5.23 ± 0.48
Limbic Lobe5.46 ± 0.61
Mesencephalon6.07 ± 0.48
Myelencephalon5.81 ± 0.56
Occipital Lobe5.81 ± 0.69
Parietal Lobe5.58 ± 0.59
Pontine Tegmentum5.8 ± 0.49
Striatum6.39 ± 0.56
Subthalamus5.61 ± 0.72
Temporal Lobe5.49 ± 0.49
Thalamus6.22 ± 0.46
White Matter7.76 ± 0.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
UacaCBCerebellum4.89
8.22
UacaCTXCerebral cortex3.53
3.54
UacaHIPHippocampal region3.27
4.69
UacaHPFHippocampal formation4.02
4.97
UacaHYHypothalamus2.09
2.49
UacaLSXLateral septal complex1.55
1.68
UacaMBMidbrain5.21
7.5
UacaMYMedulla6.98
9.22
UacaOLFOlfactory bulb4.23
3.6
UacaPPons4.81
7.66
UacaPALPallidum1.9
1.94
UacaRHPRetrohippocampal region5.04
5.2
UacasAMYStriatum-like amygdalar nuclei4.68
4.59
UacaSTRStriatum2.4
2.7
UacaSTRdStriatum dorsal region1.94
2.25
UacaSTRvStriatum ventral region3.23
3.6
UacaTHThalamus3.34
4.24
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009760 11 1141 1151 CYEKEQQTVTK 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