AutismKB 2.0

Annotation Detail for UQCC


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Basic Information Top
Gene Symbol:UQCC ( BFZB,C20orf44,CBP3,MGC104353,MGC141902 )
Gene Full Name: ubiquinol-cytochrome c reductase complex chaperone
Band: 20q11.22
Quick LinksEntrez ID:55245; OMIM: 611797; Uniprot ID:UQCC_HUMAN; ENSEMBL ID: ENSG00000101019; HGNC ID:
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 body2 / 7076128
blastocyst4 / 6231964
fetus60 / 564012106
neonate8 / 31097257
infant7 / 23620296
juvenile24 / 55556431
adult139 / 193912171
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) tumor13 / 94178138
cervical tumor0 / 343660 
chondrosarcoma8 / 8282396
colorectal tumor10 / 11424687
esophageal tumor3 / 17290173
gastrointestinal tumor14 / 119369117
germ cell tumor35 / 263845132
glioma9 / 10688384
head and neck tumor13 / 13630295
kidney tumor12 / 68959174
leukemia13 / 95842135
liver tumor6 / 9635962
lung tumor4 / 10312738
lymphoma12 / 71755167
non-neoplasia16 / 97250164
normal456 / 3360307135
ovarian tumor5 / 7668265
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS36 / 125680286
prostate cancer5 / 10268048
retinoblastoma6 / 46356129
skin tumor10 / 12494980
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites6 / 40015149
bladder2 / 2975767
blood11 / 12347889
bone8 / 71655111
bone marrow5 / 48801102
brain254 / 1100989230
cervix0 / 481710 
connective tissue18 / 149255120
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus4 / 20209197
eye19 / 21105490
heart14 / 89626156
intestine25 / 234472106
kidney32 / 211777151
larynx2 / 2414582
liver8 / 20774338
lung22 / 33697465
lymph9 / 44270203
lymph node7 / 9161076
mammary gland15 / 15327197
mouth13 / 67052193
muscle4 / 10771537
nerve1 / 1576863
ovary6 / 10205158
pancreas22 / 214812102
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland3 / 16585180
placenta22 / 28082578
prostate16 / 18934584
salivary gland2 / 2015599
skin27 / 210574128
spleen11 / 53952203
stomach8 / 9661982
testis55 / 330442166
thymus16 / 81131197
thyroid2 / 4747342
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord2 / 13680146
uterus28 / 232878120
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217935_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts51.65
Adipocyte9.55
AdrenalCortex9.15
Adrenalgland12.8
Amygdala10.8
Appendix6.65
AtrioventricularNode4.9
BDCA4+_DentriticCells9.65
Bonemarrow7.8
BronchialEpithelialCells7
CD105+_Endothelial9.25
CD14+_Monocytes6.4
CD19+_BCells(neg._sel.)7.7
CD33+_Myeloid9.75
CD34+11.95
CD4+_Tcells8.2
CD56+_NKCells9.2
CD71+_EarlyErythroid6.4
CD8+_Tcells7.4
CardiacMyocytes7.85
Caudatenucleus9.65
Cerebellum7.9
CerebellumPeduncles8.2
CiliaryGanglion4.5
CingulateCortex11
Colorectaladenocarcinoma9.45
DorsalRootGanglion5.4
FetalThyroid7.05
Fetalbrain8
Fetalliver6.45
Fetallung6.35
GlobusPallidus5.4
Heart10.7
Hypothalamus14.75
Kidney8.25
Leukemia_chronicMyelogenousK-56210.9
Leukemia_promyelocytic-HL-607.5
Leukemialymphoblastic(MOLT-4)15.5
Liver7.6
Lung7.9
Lymphnode5.65
Lymphoma_burkitts(Daudi)9.5
Lymphoma_burkitts(Raji)53.45
MedullaOblongata7.5
OccipitalLobe6.85
OlfactoryBulb5.95
Ovary4.35
Pancreas5.5
PancreaticIslet7.15
ParietalLobe8.8
Pituitary10.75
Placenta6.35
Pons7.5
PrefrontalCortex20.05
Prostate8.4
Salivarygland5.25
SkeletalMuscle8.75
Skin5.55
SmoothMuscle7
Spinalcord8.65
SubthalamicNucleus6.75
SuperiorCervicalGanglion8.1
TemporalLobe6.8
Testis9.4
TestisGermCell6.1
TestisIntersitial5.95
TestisLeydigCell7.1
TestisSeminiferousTubule6.3
Thalamus8.05
Thymus5.65
Thyroid10.7
Tongue6.95
Tonsil5.3
Trachea6.35
TrigeminalGanglion7.05
Uterus4.9
UterusCorpus5.85
WholeBlood6.95
Wholebrain25.85
colon6.95
pineal_day11.96
pineal_night12.3
retina11.525
small_intestine7.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P210948
  • 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
Amygdala4.81 ± 0.58
Basal Forebrain5.28 ± 0.2
Basal Part of Pons5.65 ± 0.25
Cerebellar Cortex5.37 ± 0.38
Cerebellar Nuclei5.1 ± 0.52
Claustrum4.84 ± 0.53
Epithalamus5.22 ± 0.56
Frontal Lobe5.48 ± 0.42
Globus Pallidus4.65 ± 0.47
Hypothalamus5.6 ± 0.21
Insula5.39 ± 0.41
Limbic Lobe5.18 ± 0.57
Mesencephalon5.25 ± 0.5
Myelencephalon5.27 ± 0.52
Occipital Lobe4.86 ± 0.51
Parietal Lobe5.26 ± 0.45
Pontine Tegmentum5.23 ± 0.53
Striatum5.13 ± 0.44
Subthalamus5.66 ± 0.44
Temporal Lobe5.41 ± 0.43
Thalamus5.3 ± 0.45
White Matter4.53 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
2410003P15RikCBCerebellum41.84
70.04
2410003P15RikCTXCerebral cortex100
82.1
2410003P15RikHIPHippocampal region71.22
99.9
2410003P15RikHPFHippocampal formation87.64
99.83
2410003P15RikHYHypothalamus46.93
41.79
2410003P15RikLSXLateral septal complex35.07
25.22
2410003P15RikMBMidbrain52.85
47.18
2410003P15RikMYMedulla76.76
87.2
2410003P15RikOLFOlfactory bulb71.58
63.31
2410003P15RikPPons62.49
65.54
2410003P15RikPALPallidum63.97
63.56
2410003P15RikRHPRetrohippocampal region100
100
2410003P15RiksAMYStriatum-like amygdalar nuclei100
86.7
2410003P15RikSTRStriatum86.46
66.84
2410003P15RikSTRdStriatum dorsal region93.55
72.75
2410003P15RikSTRvStriatum ventral region69.88
52.21
2410003P15RikTHThalamus72.26
66.23
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00164442 12 96 107 IIEAMGFTGPLK 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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