AutismKB 2.0

Annotation Detail for UNC13A


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Basic Information Top
Gene Symbol:UNC13A ( KIAA1032,Munc13-1 )
Gene Full Name: unc-13 homolog A (C. elegans)
Band: 19p13.11
Quick LinksEntrez ID:23025; OMIM: 609894; Uniprot ID:UN13A_HUMAN; ENSEMBL ID: ENSG00000130477; HGNC ID: 23150
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 
blastocyst3 / 6231948
fetus13 / 56401223
neonate0 / 310970 
infant3 / 23620127
juvenile0 / 555560 
adult39 / 193912120
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma4 / 10688337
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal93 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor0 / 1249490 
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
bone0 / 716550 
bone marrow0 / 488010 
brain64 / 110098958
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye8 / 21105437
heart0 / 896260 
intestine3 / 23447212
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle3 / 10771527
nerve2 / 15768126
ovary0 / 1020510 
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen2 / 5395237
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214817_at
Cell line Expression level Expression bar
721_B_lymphoblasts30.85
Adipocyte49.85
AdrenalCortex93.15
Adrenalgland56.55
Amygdala88.15
Appendix87.05
AtrioventricularNode112.9
BDCA4+_DentriticCells36.85
Bonemarrow64.15
BronchialEpithelialCells37.5
CD105+_Endothelial57.25
CD14+_Monocytes43.15
CD19+_BCells(neg._sel.)57.85
CD33+_Myeloid47.4
CD34+62.9
CD4+_Tcells38.1
CD56+_NKCells43.45
CD71+_EarlyErythroid57
CD8+_Tcells37.8
CardiacMyocytes73.7
Caudatenucleus57.9
Cerebellum97
CerebellumPeduncles163.8
CiliaryGanglion79.15
CingulateCortex173.7
Colorectaladenocarcinoma41.4
DorsalRootGanglion89.15
FetalThyroid55.05
Fetalbrain63.2
Fetalliver50.25
Fetallung33.15
GlobusPallidus88
Heart85.25
Hypothalamus64.3
Kidney58.15
Leukemia_chronicMyelogenousK-56252.1
Leukemia_promyelocytic-HL-6046.45
Leukemialymphoblastic(MOLT-4)46.85
Liver83.85
Lung42.8
Lymphnode45.95
Lymphoma_burkitts(Daudi)69.55
Lymphoma_burkitts(Raji)78.35
MedullaOblongata61.5
OccipitalLobe95.9
OlfactoryBulb47.05
Ovary55.3
Pancreas52.6
PancreaticIslet62.85
ParietalLobe137.8
Pituitary120.1
Placenta45.45
Pons91.85
PrefrontalCortex170.35
Prostate53.6
Salivarygland49.65
SkeletalMuscle105.85
Skin78.2
SmoothMuscle49.2
Spinalcord58.65
SubthalamicNucleus89.45
SuperiorCervicalGanglion115.05
TemporalLobe116.15
Testis45.5
TestisGermCell54.85
TestisIntersitial49.65
TestisLeydigCell59.85
TestisSeminiferousTubule49.35
Thalamus60.6
Thymus33.7
Thyroid56.2
Tongue87.9
Tonsil68.25
Trachea48.25
TrigeminalGanglion69.3
Uterus36.3
UterusCorpus83.9
WholeBlood47
Wholebrain51.45
colon53.95
pineal_day70.54
pineal_night70.26
retina56.6
small_intestine46.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P365494
  • 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
Amygdala9.42 ± 0.66
Basal Forebrain8.48 ± 0.31
Basal Part of Pons9.2 ± 0.25
Cerebellar Cortex8.8 ± 0.36
Cerebellar Nuclei7.28 ± 0.9
Claustrum9.67 ± 0.48
Epithalamus7.57 ± 0.76
Frontal Lobe8.9 ± 0.51
Globus Pallidus6.34 ± 0.75
Hypothalamus8.06 ± 0.51
Insula9.03 ± 0.26
Limbic Lobe9.28 ± 0.6
Mesencephalon8.45 ± 0.68
Myelencephalon8.64 ± 0.67
Occipital Lobe8.61 ± 0.56
Parietal Lobe8.91 ± 0.54
Pontine Tegmentum8.59 ± 0.72
Striatum8.64 ± 0.75
Subthalamus8.22 ± 0.13
Temporal Lobe9.13 ± 0.39
Thalamus8.78 ± 0.42
White Matter6.08 ± 0.66
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Unc13aCBCerebellum49.52
53.35
Unc13aCTXCerebral cortex100
100
Unc13aHIPHippocampal region100
100
Unc13aHPFHippocampal formation100
100
Unc13aHYHypothalamus73.4
52.26
Unc13aLSXLateral septal complex100
99.53
Unc13aMBMidbrain69.26
58.15
Unc13aMYMedulla70.45
70.5
Unc13aOLFOlfactory bulb100
100
Unc13aPPons66.52
63.52
Unc13aPALPallidum74.64
59.54
Unc13aRHPRetrohippocampal region100
100
Unc13asAMYStriatum-like amygdalar nuclei90.37
70.51
Unc13aSTRStriatum100
100
Unc13aSTRdStriatum dorsal region100
100
Unc13aSTRvStriatum ventral region100
99.87
Unc13aTHThalamus100
99.33
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00433233 11 815 825 FHFECHNSSDR 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