AutismKB 2.0

Annotation Detail for UQCRC2


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Basic Information Top
Gene Symbol:UQCRC2 ( QCR2,UQCR2 )
Gene Full Name: ubiquinol-cytochrome c reductase core protein II
Band: 16p12.2
Quick LinksEntrez ID:7385; OMIM: 191329; Uniprot ID:QCR2_HUMAN; ENSEMBL ID: ENSG00000140740; HGNC ID: 12586
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 body13 / 70761183
blastocyst8 / 62319128
fetus105 / 564012186
neonate9 / 31097289
infant21 / 23620889
juvenile26 / 55556467
adult420 / 1939121216
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma1 / 1747557
breast (mammary gland) tumor37 / 94178392
cervical tumor9 / 34366261
chondrosarcoma23 / 82823277
colorectal tumor31 / 114246271
esophageal tumor7 / 17290404
gastrointestinal tumor48 / 119369402
germ cell tumor56 / 263845212
glioma14 / 106883130
head and neck tumor27 / 136302198
kidney tumor13 / 68959188
leukemia28 / 95842292
liver tumor29 / 96359300
lung tumor30 / 103127290
lymphoma13 / 71755181
non-neoplasia24 / 97250246
normal837 / 3360307249
ovarian tumor7 / 7668291
pancreatic tumor31 / 104616296
primitive neuroectodermal tumor of the CNS59 / 125680469
prostate cancer19 / 102680185
retinoblastoma23 / 46356496
skin tumor23 / 124949184
soft tissue/muscle tissue tumor26 / 125191207
uterine tumor22 / 90257243
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue5 / 13106381
adrenal gland12 / 33197361
ascites16 / 40015399
bladder3 / 29757100
blood27 / 123478218
bone14 / 71655195
bone marrow16 / 48801327
brain264 / 1100989239
cervix10 / 48171207
connective tissue16 / 149255107
ear1 / 1621261
embryonic tissue42 / 215722194
esophagus7 / 20209346
eye57 / 211054270
heart99 / 896261104
intestine90 / 234472383
kidney53 / 211777250
larynx5 / 24145207
liver59 / 207743284
lung76 / 336974225
lymph6 / 44270135
lymph node16 / 91610174
mammary gland42 / 153271274
mouth6 / 6705289
muscle38 / 107715352
nerve3 / 15768190
ovary17 / 102051166
pancreas47 / 214812218
parathyroid6 / 20539292
pharynx28 / 41328677
pituitary gland4 / 16585241
placenta56 / 280825199
prostate40 / 189345211
salivary gland1 / 2015549
skin36 / 210574170
spleen8 / 53952148
stomach51 / 96619527
testis49 / 330442148
thymus17 / 81131209
thyroid11 / 47473231
tonsil2 / 16999117
trachea3 / 5241357
umbilical cord8 / 13680584
uterus57 / 232878244
vascular17 / 51780328
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200883_at
Cell line Expression level Expression bar
721_B_lymphoblasts761.3
Adipocyte169.4
AdrenalCortex37.55
Adrenalgland41.75
Amygdala113.7
Appendix39.75
AtrioventricularNode17.75
BDCA4+_DentriticCells175.65
Bonemarrow52.7
BronchialEpithelialCells228.5
CD105+_Endothelial79.85
CD14+_Monocytes189.65
CD19+_BCells(neg._sel.)118.15
CD33+_Myeloid117.7
CD34+99
CD4+_Tcells111.75
CD56+_NKCells95
CD71+_EarlyErythroid83.75
CD8+_Tcells134.1
CardiacMyocytes84.7
Caudatenucleus65.8
Cerebellum38.85
CerebellumPeduncles67.2
CiliaryGanglion16.8
CingulateCortex66.4
Colorectaladenocarcinoma55.05
DorsalRootGanglion17.05
FetalThyroid68.9
Fetalbrain83.95
Fetalliver52.35
Fetallung65.85
GlobusPallidus47.65
Heart96.65
Hypothalamus137.85
Kidney75
Leukemia_chronicMyelogenousK-562208.85
Leukemia_promyelocytic-HL-60226.1
Leukemialymphoblastic(MOLT-4)118.35
Liver20.25
Lung32.35
Lymphnode49.35
Lymphoma_burkitts(Daudi)226.15
Lymphoma_burkitts(Raji)189.55
MedullaOblongata88.95
OccipitalLobe118.5
OlfactoryBulb28.95
Ovary38.35
Pancreas51.95
PancreaticIslet76.95
ParietalLobe88.7
Pituitary77.65
Placenta52.8
Pons56.9
PrefrontalCortex95.45
Prostate33.35
Salivarygland81.1
SkeletalMuscle29.2
Skin22.75
SmoothMuscle156.2
Spinalcord39.95
SubthalamicNucleus64.75
SuperiorCervicalGanglion29.15
TemporalLobe63.05
Testis24.85
TestisGermCell41.45
TestisIntersitial35
TestisLeydigCell30.1
TestisSeminiferousTubule15
Thalamus134.65
Thymus94.5
Thyroid114.55
Tongue71.9
Tonsil83.95
Trachea54.35
TrigeminalGanglion16.35
Uterus50.55
UterusCorpus13.95
WholeBlood108
Wholebrain80.35
colon461.65
pineal_day153.26
pineal_night174.98
retina146.5
small_intestine440.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10444_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
Amygdala9.13 ± 0.45
Basal Forebrain9.4 ± 0.29
Basal Part of Pons9.95 ± 0.33
Cerebellar Cortex9.79 ± 0.23
Cerebellar Nuclei9.69 ± 0.39
Claustrum8.79 ± 0.63
Epithalamus9.55 ± 0.3
Frontal Lobe9.69 ± 0.37
Globus Pallidus8.87 ± 0.2
Hypothalamus9.81 ± 0.34
Insula9.59 ± 0.44
Limbic Lobe9.15 ± 0.69
Mesencephalon9.29 ± 0.49
Myelencephalon9.38 ± 0.59
Occipital Lobe9.08 ± 0.49
Parietal Lobe9.46 ± 0.62
Pontine Tegmentum9.4 ± 0.51
Striatum8.9 ± 0.49
Subthalamus9.77 ± 0.38
Temporal Lobe9.57 ± 0.5
Thalamus9.47 ± 0.37
White Matter8.31 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Uqcrc2CBCerebellum35.81
50
Uqcrc2CTXCerebral cortex50
50
Uqcrc2HIPHippocampal region50
50
Uqcrc2HPFHippocampal formation50
50
Uqcrc2HYHypothalamus50
50
Uqcrc2LSXLateral septal complex50
50
Uqcrc2MBMidbrain50
50
Uqcrc2MYMedulla49.99
50
Uqcrc2OLFOlfactory bulb50
50
Uqcrc2PPons47.87
50
Uqcrc2PALPallidum50
50
Uqcrc2RHPRetrohippocampal region50
50
Uqcrc2sAMYStriatum-like amygdalar nuclei50
50
Uqcrc2STRStriatum50
50
Uqcrc2STRdStriatum dorsal region50
50
Uqcrc2STRvStriatum ventral region50
50
Uqcrc2THThalamus50
50
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000718 19 24 42 ATAAPAGAPPQPQDLEFTK Peptide Atlas
QCR2_HUMAN_110 7 110 116 LSVTATR PRIDE
QCR2_HUMAN_148 12 148 159 RWEVADLQPQLK PRIDE
QCR2_HUMAN_149 11 149 159 WEVADLQPQLK PRIDE
QCR2_HUMAN_159 24 159 182 IDKAVAFQNPQTHVIENLHAAAYR PRIDE
QCR2_HUMAN_162 21 162 182 AVAFQNPQTHVIENLHAAAYR PRIDE
QCR2_HUMAN_163 21 163 183 AVAFQNPQTHVIENLHAAAYR PRIDE
QCR2_HUMAN_183 13 183 195 NALANPLYCPDYR PRIDE
QCR2_HUMAN_184 13 184 196 NALANPLYCPDYR PRIDE
QCR2_HUMAN_199 18 199 216 VTSEELHYFVQNHFTSAR PRIDE
QCR2_HUMAN_200 18 200 217 VTSEELHYFVQNHFTSAR PRIDE
QCR2_HUMAN_217 14 217 230 MALIGLGVSHPVLK PRIDE
QCR2_HUMAN_232 10 232 241 QVAEQFLNMR PRIDE
QCR2_HUMAN_259 41 259 299 EQNGDSLVHAAFVAESAVAGSAEANAFSVLQHVLGAGPHVK PRIDE
QCR2_HUMAN_259 42 259 300 EQNGDSLVHAAFVAESAVAGSAEANAFSVLQHVLGAGPHVKR PRIDE
QCR2_HUMAN_287 12 287 298 SVLQHVLGAGPH PRIDE
QCR2_HUMAN_287 15 287 301 SVLQHVLGAGPHVKR PRIDE
QCR2_HUMAN_359 16 359 374 TIAQGNLSNTDVQAAK PRIDE
QCR2_HUMAN_360 16 360 375 TIAQGNLSNTDVQAAK PRIDE
QCR2_HUMAN_436 17 436 452 SMAASGNLGHTPFVDEL PRIDE
QCR2_HUMAN_70 14 70 83 YEDFSNLGTTHLLR PRIDE
QCR2_HUMAN_71 14 71 84 YEDFSNLGTTHLLR 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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