AutismKB 2.0

Annotation Detail for UQCRFS1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:UQCRFS1 ( RIP1,RIS1,RISP,UQCR5 )
Gene Full Name: ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
Band: 19q12
Quick LinksEntrez ID:7386; OMIM: 191327; Uniprot ID:UCRI_HUMAN; ENSEMBL ID: ENSG00000169021; HGNC ID: 12587
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
blastocyst3 / 6231948
fetus69 / 564012122
neonate0 / 310970 
infant2 / 2362084
juvenile1 / 5555617
adult138 / 193912171
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor6 / 12794468
bladder carcinoma5 / 17475286
breast (mammary gland) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma11 / 82823132
colorectal tumor18 / 114246157
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor21 / 26384579
glioma17 / 106883159
head and neck tumor13 / 13630295
kidney tumor3 / 6895943
leukemia6 / 9584262
liver tumor6 / 9635962
lung tumor12 / 103127116
lymphoma3 / 7175541
non-neoplasia0 / 972500 
normal210 / 336030762
ovarian tumor16 / 76682208
pancreatic tumor16 / 104616152
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer9 / 10268087
retinoblastoma1 / 4635621
skin tumor14 / 124949112
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland8 / 33197240
ascites1 / 4001524
bladder2 / 2975767
blood3 / 12347824
bone9 / 71655125
bone marrow3 / 4880161
brain95 / 110098986
cervix3 / 4817162
connective tissue11 / 14925573
ear1 / 1621261
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye12 / 21105456
heart13 / 89626145
intestine30 / 234472127
kidney12 / 21177756
larynx0 / 241450 
liver12 / 20774357
lung24 / 33697471
lymph3 / 4427067
lymph node9 / 9161098
mammary gland9 / 15327158
mouth12 / 67052178
muscle13 / 107715120
nerve1 / 1576863
ovary17 / 102051166
pancreas21 / 21481297
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta16 / 28082556
prostate10 / 18934552
salivary gland1 / 2015549
skin18 / 21057485
spleen3 / 5395255
stomach9 / 9661993
testis14 / 33044242
thymus0 / 811310 
thyroid1 / 4747321
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus23 / 23287898
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208909_at
Cell line Expression level Expression bar
721_B_lymphoblasts3248.75
Adipocyte1021.8
AdrenalCortex277.75
Adrenalgland712.1
Amygdala1294.9
Appendix12.45
AtrioventricularNode7.55
BDCA4+_DentriticCells1179.9
Bonemarrow420.95
BronchialEpithelialCells1140.05
CD105+_Endothelial1531.3
CD14+_Monocytes1106.25
CD19+_BCells(neg._sel.)1132.15
CD33+_Myeloid1299.95
CD34+1633.15
CD4+_Tcells682.25
CD56+_NKCells1316.25
CD71+_EarlyErythroid1003.15
CD8+_Tcells567
CardiacMyocytes383.75
Caudatenucleus411.85
Cerebellum518.2
CerebellumPeduncles489.35
CiliaryGanglion60.8
CingulateCortex373.65
Colorectaladenocarcinoma544.75
DorsalRootGanglion84.65
FetalThyroid306.1
Fetalbrain468.95
Fetalliver495.9
Fetallung372.7
GlobusPallidus247.2
Heart3489.55
Hypothalamus789.2
Kidney788.25
Leukemia_chronicMyelogenousK-562830.05
Leukemia_promyelocytic-HL-60938
Leukemialymphoblastic(MOLT-4)844.6
Liver1428.8
Lung1096.45
Lymphnode187.3
Lymphoma_burkitts(Daudi)1057.4
Lymphoma_burkitts(Raji)1312.25
MedullaOblongata352.2
OccipitalLobe587.2
OlfactoryBulb93.3
Ovary83.55
Pancreas211.35
PancreaticIslet411.6
ParietalLobe489.55
Pituitary409
Placenta683.15
Pons208.6
PrefrontalCortex403
Prostate904.1
Salivarygland384.65
SkeletalMuscle288.15
Skin125.6
SmoothMuscle732.45
Spinalcord393.4
SubthalamicNucleus383.45
SuperiorCervicalGanglion6.8
TemporalLobe432.05
Testis1141.55
TestisGermCell569.35
TestisIntersitial795.95
TestisLeydigCell526.25
TestisSeminiferousTubule312.4
Thalamus721.75
Thymus591.55
Thyroid1116.15
Tongue627.1
Tonsil339.15
Trachea258.15
TrigeminalGanglion91.9
Uterus359.3
UterusCorpus102.45
WholeBlood547.15
Wholebrain1597.35
colon1870.8
pineal_day593.2
pineal_night590.82
retina1019.525
small_intestine1285.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P61954
  • 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
Amygdala9.94 ± 0.51
Basal Forebrain10.07 ± 0.23
Basal Part of Pons10.68 ± 0.4
Cerebellar Cortex10.41 ± 0.38
Cerebellar Nuclei10.61 ± 0.51
Claustrum9.97 ± 0.93
Epithalamus10.25 ± 0.34
Frontal Lobe10.64 ± 0.41
Globus Pallidus10.06 ± 0.35
Hypothalamus10.67 ± 0.24
Insula10.62 ± 0.4
Limbic Lobe10.05 ± 0.79
Mesencephalon10.25 ± 0.52
Myelencephalon10.24 ± 0.66
Occipital Lobe9.43 ± 0.72
Parietal Lobe10.3 ± 0.53
Pontine Tegmentum10.28 ± 0.48
Striatum9.56 ± 0.49
Subthalamus10.93 ± 0.49
Temporal Lobe10.54 ± 0.46
Thalamus10.27 ± 0.43
White Matter9.34 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Uqcrfs1CBCerebellum48.12
100
Uqcrfs1CTXCerebral cortex100
100
Uqcrfs1HIPHippocampal region100
100
Uqcrfs1HPFHippocampal formation96.65
100
Uqcrfs1HYHypothalamus80.36
86.82
Uqcrfs1LSXLateral septal complex91.16
85.26
Uqcrfs1MBMidbrain86.22
98.28
Uqcrfs1MYMedulla83.06
100
Uqcrfs1OLFOlfactory bulb98.07
100
Uqcrfs1PPons82.92
100
Uqcrfs1PALPallidum92.39
100
Uqcrfs1RHPRetrohippocampal region92.8
100
Uqcrfs1sAMYStriatum-like amygdalar nuclei80.97
81.16
Uqcrfs1STRStriatum87.39
80.76
Uqcrfs1STRdStriatum dorsal region89.92
82.48
Uqcrfs1STRvStriatum ventral region82.1
73.86
Uqcrfs1THThalamus99.51
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002068 22 183 204 EIEQEAAVELSQLRDPQHDLDR Peptide Atlas
UCRI_HUMAN_0 0 0 0 RLEVLDSTK PRIDE
UCRI_HUMAN_0 0 0 0 VPDFSEYR PRIDE
UCRI_HUMAN_130 21 130 150 NAVTQFVSSMSASADVLALAK PRIDE
UCRI_HUMAN_156 8 156 163 LSDIPEGK PRIDE
UCRI_HUMAN_180 17 180 196 TQKEIEQEAAVELSQLR PRIDE
UCRI_HUMAN_182 14 182 195 EIEQEAAVELSQLR PRIDE
UCRI_HUMAN_182 22 182 203 EIEQEAAVELSQLRDPQHDLDR PRIDE
UCRI_HUMAN_183 14 183 196 EIEQEAAVELSQLR PRIDE
UCRI_HUMAN_183 22 183 204 EIEQEAAVELSQLRDPQHDLDR PRIDE
UCRI_HUMAN_79 14 79 92 SHTDIKVPDFSEYR PRIDE
UCRI_HUMAN_92 9 92 100 RLEVLDSTK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved