AutismKB 2.0

Annotation Detail for RUVBL1


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Basic Information Top
Gene Symbol:RUVBL1 ( ECP54,INO80H,NMP238,PONTIN,Pontin52,RVB1,TIH1,TIP49,TIP49A )
Gene Full Name: RuvB-like 1 (E. coli)
Band: 3q21.3
Quick LinksEntrez ID:8607; OMIM: 603449; Uniprot ID:RUVB1_HUMAN; ENSEMBL ID: ENSG00000175792; HGNC ID: 10474
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 body8 / 70761113
blastocyst9 / 62319144
fetus56 / 56401299
neonate0 / 310970 
infant9 / 23620381
juvenile29 / 55556521
adult168 / 193912186
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor7 / 9417874
cervical tumor7 / 34366203
chondrosarcoma6 / 8282372
colorectal tumor26 / 114246227
esophageal tumor8 / 17290462
gastrointestinal tumor20 / 119369167
germ cell tumor43 / 263845162
glioma15 / 106883140
head and neck tumor8 / 13630258
kidney tumor9 / 68959130
leukemia15 / 95842156
liver tumor10 / 96359103
lung tumor47 / 103127455
lymphoma13 / 71755181
non-neoplasia10 / 97250102
normal264 / 336030778
ovarian tumor18 / 76682234
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS56 / 125680445
prostate cancer19 / 102680185
retinoblastoma14 / 46356302
skin tumor40 / 124949320
soft tissue/muscle tissue tumor17 / 125191135
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites11 / 40015274
bladder3 / 29757100
blood18 / 123478145
bone6 / 7165583
bone marrow4 / 4880181
brain110 / 110098999
cervix7 / 48171145
connective tissue7 / 14925546
ear1 / 1621261
embryonic tissue29 / 215722134
esophagus8 / 20209395
eye33 / 211054156
heart6 / 8962666
intestine34 / 234472145
kidney18 / 21177784
larynx0 / 241450 
liver13 / 20774362
lung66 / 336974195
lymph4 / 4427090
lymph node7 / 9161076
mammary gland9 / 15327158
mouth3 / 6705244
muscle9 / 10771583
nerve2 / 15768126
ovary27 / 102051264
pancreas17 / 21481279
parathyroid0 / 205390 
pharynx6 / 41328145
pituitary gland1 / 1658560
placenta28 / 28082599
prostate25 / 189345132
salivary gland1 / 2015549
skin42 / 210574199
spleen4 / 5395274
stomach7 / 9661972
testis36 / 330442108
thymus8 / 8113198
thyroid2 / 4747342
tonsil5 / 16999294
trachea2 / 5241338
umbilical cord0 / 136800 
uterus19 / 23287881
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201614_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts186.2
Adipocyte24.55
AdrenalCortex27.95
Adrenalgland21.65
Amygdala18.5
Appendix27.55
AtrioventricularNode21.9
BDCA4+_DentriticCells60.4
Bonemarrow27.35
BronchialEpithelialCells116.25
CD105+_Endothelial103.7
CD14+_Monocytes22.45
CD19+_BCells(neg._sel.)34.95
CD33+_Myeloid31.4
CD34+119.95
CD4+_Tcells34.05
CD56+_NKCells48.9
CD71+_EarlyErythroid18.75
CD8+_Tcells19.9
CardiacMyocytes33.45
Caudatenucleus18.75
Cerebellum20.25
CerebellumPeduncles28.8
CiliaryGanglion20.05
CingulateCortex22.95
Colorectaladenocarcinoma65.75
DorsalRootGanglion20.4
FetalThyroid24.35
Fetalbrain24.2
Fetalliver21.85
Fetallung22.7
GlobusPallidus17.1
Heart35.15
Hypothalamus19.3
Kidney23.75
Leukemia_chronicMyelogenousK-56271.95
Leukemia_promyelocytic-HL-60165.7
Leukemialymphoblastic(MOLT-4)71.1
Liver41.95
Lung39.05
Lymphnode20.4
Lymphoma_burkitts(Daudi)121.25
Lymphoma_burkitts(Raji)226.85
MedullaOblongata21.3
OccipitalLobe14.35
OlfactoryBulb19.3
Ovary17.7
Pancreas20.65
PancreaticIslet31.25
ParietalLobe27.2
Pituitary28.65
Placenta22.2
Pons21.9
PrefrontalCortex16.35
Prostate28.5
Salivarygland19.45
SkeletalMuscle32.05
Skin21.75
SmoothMuscle32.2
Spinalcord21.9
SubthalamicNucleus23.2
SuperiorCervicalGanglion34.7
TemporalLobe18.5
Testis46.75
TestisGermCell28.9
TestisIntersitial21.75
TestisLeydigCell25.4
TestisSeminiferousTubule24
Thalamus18.85
Thymus46.45
Thyroid32.25
Tongue25.4
Tonsil24.6
Trachea20.9
TrigeminalGanglion26.4
Uterus19.1
UterusCorpus23.15
WholeBlood23.5
Wholebrain22.85
colon19.75
pineal_day26.12
pineal_night28.42
retina23.475
small_intestine22.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P30693
  • 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
Amygdala5.84 ± 0.46
Basal Forebrain5.46 ± 0.26
Basal Part of Pons5.61 ± 0.43
Cerebellar Cortex5.37 ± 0.31
Cerebellar Nuclei5.72 ± 0.31
Claustrum5.6 ± 0.48
Epithalamus6.28 ± 0.56
Frontal Lobe5.46 ± 0.46
Globus Pallidus5.8 ± 0.45
Hypothalamus5.59 ± 0.36
Insula5.38 ± 0.43
Limbic Lobe5.72 ± 0.37
Mesencephalon5.53 ± 0.67
Myelencephalon5.63 ± 0.47
Occipital Lobe5.85 ± 0.47
Parietal Lobe5.57 ± 0.37
Pontine Tegmentum5.56 ± 0.46
Striatum6.18 ± 0.38
Subthalamus5.09 ± 0.34
Temporal Lobe5.55 ± 0.46
Thalamus5.45 ± 0.4
White Matter5.43 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ruvbl1CBCerebellum14.39
17.67
Ruvbl1CTXCerebral cortex25.49
19.43
Ruvbl1HIPHippocampal region25.94
36.92
Ruvbl1HPFHippocampal formation27.9
31.91
Ruvbl1HYHypothalamus5.47
4.37
Ruvbl1LSXLateral septal complex11.65
9.05
Ruvbl1MBMidbrain11.18
11.05
Ruvbl1MYMedulla21.58
26.62
Ruvbl1OLFOlfactory bulb19.39
15.38
Ruvbl1PPons15.5
18.35
Ruvbl1PALPallidum9.95
9.96
Ruvbl1RHPRetrohippocampal region32.23
25.87
Ruvbl1sAMYStriatum-like amygdalar nuclei13.16
9.15
Ruvbl1STRStriatum13.94
9.92
Ruvbl1STRdStriatum dorsal region14.54
10.58
Ruvbl1STRvStriatum ventral region14.38
9.33
Ruvbl1THThalamus9.28
7.97
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000911 20 206 225 CDTYATEFDLEAEEYVPLPK Peptide Atlas
RUVB1_HUMAN_1 14 1 14 MKIEEVKSTTKTQR PRIDE
RUVB1_HUMAN_108 10 108 117 KTEVLMENFR PRIDE
RUVB1_HUMAN_232 35 232 266 EIIQDVTLHDLDVANARPQGGQDILSMMGQLMKPK PRIDE
RUVB1_HUMAN_317 16 317 332 ALESSIAPIVIFASNR PRIDE
RUVB1_HUMAN_339 18 339 356 GTEDITSPHGIPLDLLDR PRIDE
RUVB1_HUMAN_339 23 339 361 GTEDITSPHGIPLDLLDRVMIIR PRIDE
RUVB1_HUMAN_404 14 404 417 YSVQLLTPANLLAK PRIDE
RUVB1_HUMAN_46 11 46 56 EACGVIVELIK 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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