AutismKB 2.0

Annotation Detail for UQCRC1


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Basic Information Top
Gene Symbol:UQCRC1 ( D3S3191,QCR1,UQCR1 )
Gene Full Name: ubiquinol-cytochrome c reductase core protein I
Band: 3p21.31
Quick LinksEntrez ID:7384; OMIM: 191328; Uniprot ID:QCR1_HUMAN; ENSEMBL ID: ENSG00000010256; HGNC ID: 12585
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 body20 / 70761282
blastocyst12 / 62319192
fetus68 / 564012120
neonate0 / 310970 
infant5 / 23620211
juvenile15 / 55556269
adult392 / 1939121202
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor5 / 12794390
bladder carcinoma0 / 174750 
breast (mammary gland) tumor17 / 94178180
cervical tumor10 / 34366290
chondrosarcoma10 / 82823120
colorectal tumor32 / 114246280
esophageal tumor1 / 1729057
gastrointestinal tumor35 / 119369293
germ cell tumor67 / 263845253
glioma37 / 106883346
head and neck tumor25 / 136302183
kidney tumor28 / 68959406
leukemia14 / 95842146
liver tumor15 / 96359155
lung tumor48 / 103127465
lymphoma29 / 71755404
non-neoplasia9 / 9725092
normal553 / 3360307164
ovarian tumor51 / 76682665
pancreatic tumor29 / 104616277
primitive neuroectodermal tumor of the CNS74 / 125680588
prostate cancer20 / 102680194
retinoblastoma11 / 46356237
skin tumor101 / 124949808
soft tissue/muscle tissue tumor33 / 125191263
uterine tumor19 / 90257210
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland9 / 33197271
ascites9 / 40015224
bladder1 / 2975733
blood27 / 123478218
bone11 / 71655153
bone marrow5 / 48801102
brain176 / 1100989159
cervix12 / 48171249
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue62 / 215722287
esophagus1 / 2020949
eye44 / 211054208
heart24 / 89626267
intestine70 / 234472298
kidney44 / 211777207
larynx3 / 24145124
liver32 / 207743154
lung74 / 336974219
lymph18 / 44270406
lymph node12 / 91610130
mammary gland33 / 153271215
mouth4 / 6705259
muscle48 / 107715445
nerve1 / 1576863
ovary60 / 102051587
pancreas34 / 214812158
parathyroid2 / 2053997
pharynx3 / 4132872
pituitary gland4 / 16585241
placenta90 / 280825320
prostate33 / 189345174
salivary gland8 / 20155396
skin119 / 210574565
spleen7 / 53952129
stomach22 / 96619227
testis34 / 330442102
thymus3 / 8113136
thyroid9 / 47473189
tonsil6 / 16999352
trachea0 / 524130 
umbilical cord0 / 136800 
uterus45 / 232878193
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201903_at
Cell line Expression level Expression bar
721_B_lymphoblasts1882.45
Adipocyte362.35
AdrenalCortex126.4
Adrenalgland236.9
Amygdala487.95
Appendix60.25
AtrioventricularNode34.9
BDCA4+_DentriticCells561
Bonemarrow138.55
BronchialEpithelialCells1159.05
CD105+_Endothelial532.9
CD14+_Monocytes1126.95
CD19+_BCells(neg._sel.)271.65
CD33+_Myeloid799.75
CD34+618.15
CD4+_Tcells225.55
CD56+_NKCells384.75
CD71+_EarlyErythroid562.85
CD8+_Tcells217.5
CardiacMyocytes241.35
Caudatenucleus232.15
Cerebellum367
CerebellumPeduncles448.35
CiliaryGanglion42.75
CingulateCortex256.6
Colorectaladenocarcinoma1314.5
DorsalRootGanglion47.5
FetalThyroid290.45
Fetalbrain167.3
Fetalliver159.7
Fetallung226.45
GlobusPallidus146.3
Heart7277.15
Hypothalamus390.4
Kidney634.7
Leukemia_chronicMyelogenousK-562308.9
Leukemia_promyelocytic-HL-60511.6
Leukemialymphoblastic(MOLT-4)383.2
Liver1755.95
Lung748.45
Lymphnode102.9
Lymphoma_burkitts(Daudi)490.45
Lymphoma_burkitts(Raji)737.5
MedullaOblongata302.4
OccipitalLobe291.4
OlfactoryBulb67.35
Ovary39.45
Pancreas89.15
PancreaticIslet194.85
ParietalLobe339.6
Pituitary148.15
Placenta496.4
Pons168.65
PrefrontalCortex541.4
Prostate610.4
Salivarygland174.95
SkeletalMuscle610
Skin86.75
SmoothMuscle398.3
Spinalcord253.15
SubthalamicNucleus281.55
SuperiorCervicalGanglion35.65
TemporalLobe356.75
Testis710.9
TestisGermCell601.5
TestisIntersitial452.45
TestisLeydigCell309.25
TestisSeminiferousTubule304.45
Thalamus504.1
Thymus436.3
Thyroid775.95
Tongue472.65
Tonsil150.3
Trachea151.4
TrigeminalGanglion32.85
Uterus196.7
UterusCorpus74.95
WholeBlood300.5
Wholebrain1171.6
colon903.1
pineal_day581.02
pineal_night556.3
retina554.65
small_intestine633.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10584_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
Amygdala5.07 ± 0.58
Basal Forebrain5.23 ± 0.34
Basal Part of Pons6.08 ± 0.35
Cerebellar Cortex5.57 ± 0.6
Cerebellar Nuclei5.63 ± 0.59
Claustrum4.63 ± 0.86
Epithalamus5.39 ± 0.43
Frontal Lobe5.66 ± 0.55
Globus Pallidus5.05 ± 0.31
Hypothalamus5.22 ± 0.7
Insula5.55 ± 0.49
Limbic Lobe5.21 ± 0.59
Mesencephalon5.47 ± 0.61
Myelencephalon5.36 ± 0.64
Occipital Lobe4.95 ± 0.52
Parietal Lobe5.39 ± 0.57
Pontine Tegmentum5.28 ± 0.47
Striatum4.94 ± 0.49
Subthalamus5.81 ± 0.58
Temporal Lobe5.5 ± 0.56
Thalamus5.43 ± 0.5
White Matter4.39 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Uqcrc1CBCerebellum42.66
63.79
Uqcrc1CTXCerebral cortex100
100
Uqcrc1HIPHippocampal region97.05
100
Uqcrc1HPFHippocampal formation92.88
100
Uqcrc1HYHypothalamus100
100
Uqcrc1LSXLateral septal complex100
100
Uqcrc1MBMidbrain66.01
71.64
Uqcrc1MYMedulla56.28
60.83
Uqcrc1OLFOlfactory bulb86.58
93.51
Uqcrc1PPons63.32
71.28
Uqcrc1PALPallidum100
100
Uqcrc1RHPRetrohippocampal region84.73
89.97
Uqcrc1sAMYStriatum-like amygdalar nuclei100
100
Uqcrc1STRStriatum100
100
Uqcrc1STRdStriatum dorsal region100
100
Uqcrc1STRvStriatum ventral region100
100
Uqcrc1THThalamus89.42
92.07
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000260 12 214 225 ADLTEYLSTHYK Peptide Atlas
QCR1_HUMAN_102 24 102 125 NRPGSALEKEVESMGAHLNAYSTR PRIDE
QCR1_HUMAN_111 15 111 125 EVESMGAHLNAYSTR PRIDE
QCR1_HUMAN_143 23 143 165 AVELLGDIVQNCSLEDSQIEKER PRIDE
QCR1_HUMAN_171 10 171 180 EMQENDASMR PRIDE
QCR1_HUMAN_180 29 180 208 DVVFNYLHATAFQGTPLAQAVEGPSENVR PRIDE
QCR1_HUMAN_181 29 181 209 DVVFNYLHATAFQGTPLAQAVEGPSENVR PRIDE
QCR1_HUMAN_214 12 214 225 ADLTEYLSTHYK PRIDE
QCR1_HUMAN_228 20 228 247 MVLAAAGGVEHQQLLDLAQK PRIDE
QCR1_HUMAN_249 21 249 269 HLGGIPWTYAEDAVPTLTPCR PRIDE
QCR1_HUMAN_270 7 270 276 FTGSEIR PRIDE
QCR1_HUMAN_35 24 35 58 TATFAQALQFVPETQVSLLDNGLR PRIDE
QCR1_HUMAN_378 12 378 389 LCTSATESEVAR PRIDE
QCR1_HUMAN_379 12 379 390 LCTSATESEVAR PRIDE
QCR1_HUMAN_396 19 396 414 NALVSHLDGTTPVCEDIGR PRIDE
QCR1_HUMAN_397 19 397 415 NALVSHLDGTTPVCEDIGR PRIDE
QCR1_HUMAN_416 7 416 422 SLLTYGR PRIDE
QCR1_HUMAN_422 10 422 431 RIPLAEWESR PRIDE
QCR1_HUMAN_423 10 423 432 RIPLAEWESR PRIDE
QCR1_HUMAN_432 10 432 441 IAEVDASVVR PRIDE
QCR1_HUMAN_433 10 433 442 IAEVDASVVR PRIDE
QCR1_HUMAN_448 23 448 470 YIYDQCPAVAGYGPIEQLPDYNR PRIDE
QCR1_HUMAN_472 8 472 479 SGMFWLRF PRIDE
QCR1_HUMAN_59 27 59 85 VASEQSSQPTCTVGVWIDVGSRFETEK 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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