AutismKB 2.0

Annotation Detail for RUFY3


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Basic Information Top
Gene Symbol:RUFY3 ( KIAA0871,RIPX,SINGAR1 )
Gene Full Name: RUN and FYVE domain containing 3
Band: 4q13.3
Quick LinksEntrez ID:22902; OMIM: 611194; Uniprot ID:RUFY3_HUMAN; ENSEMBL ID: ENSG00000018189; HGNC ID: 30285
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
fetus131 / 564012232
neonate0 / 310970 
infant3 / 23620127
juvenile2 / 5555635
adult149 / 193912176
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor30 / 263845113
glioma4 / 10688337
head and neck tumor5 / 13630236
kidney tumor8 / 68959116
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia13 / 97250133
normal512 / 3360307152
ovarian tumor3 / 7668239
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS11 / 12568087
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow1 / 4880120
brain336 / 1100989305
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus1 / 2020949
eye27 / 211054127
heart5 / 8962655
intestine7 / 23447229
kidney17 / 21177780
larynx1 / 2414541
liver4 / 20774319
lung35 / 336974103
lymph2 / 4427045
lymph node17 / 91610185
mammary gland8 / 15327152
mouth3 / 6705244
muscle10 / 10771592
nerve3 / 15768190
ovary4 / 10205139
pancreas28 / 214812130
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland4 / 16585241
placenta9 / 28082532
prostate6 / 18934531
salivary gland0 / 201550 
skin11 / 21057452
spleen1 / 5395218
stomach1 / 9661910
testis40 / 330442121
thymus7 / 8113186
thyroid4 / 4747384
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus20 / 23287885
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210251_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts20.6
Adipocyte19.55
AdrenalCortex33.2
Adrenalgland14.4
Amygdala81.75
Appendix29.45
AtrioventricularNode25.85
BDCA4+_DentriticCells85.8
Bonemarrow30.85
BronchialEpithelialCells20.7
CD105+_Endothelial18.6
CD14+_Monocytes61
CD19+_BCells(neg._sel.)26.85
CD33+_Myeloid46.6
CD34+38.1
CD4+_Tcells18.5
CD56+_NKCells30.65
CD71+_EarlyErythroid15.6
CD8+_Tcells13.1
CardiacMyocytes56.45
Caudatenucleus30.65
Cerebellum16.75
CerebellumPeduncles38.25
CiliaryGanglion44.6
CingulateCortex80.05
Colorectaladenocarcinoma17.9
DorsalRootGanglion23.35
FetalThyroid49.55
Fetalbrain117.55
Fetalliver15.8
Fetallung11.9
GlobusPallidus56.9
Heart47.95
Hypothalamus104.1
Kidney18.1
Leukemia_chronicMyelogenousK-56215.65
Leukemia_promyelocytic-HL-6018.75
Leukemialymphoblastic(MOLT-4)27.7
Liver36.7
Lung21.45
Lymphnode14.15
Lymphoma_burkitts(Daudi)26.9
Lymphoma_burkitts(Raji)57
MedullaOblongata58.9
OccipitalLobe108.65
OlfactoryBulb19.85
Ovary13.95
Pancreas25.15
PancreaticIslet33
ParietalLobe77.65
Pituitary39.05
Placenta15.6
Pons82.7
PrefrontalCortex148.25
Prostate38.55
Salivarygland11.85
SkeletalMuscle40.8
Skin20.45
SmoothMuscle21.45
Spinalcord23.65
SubthalamicNucleus42.5
SuperiorCervicalGanglion40.05
TemporalLobe36.4
Testis14.55
TestisGermCell36.45
TestisIntersitial31.05
TestisLeydigCell25.6
TestisSeminiferousTubule24.25
Thalamus32
Thymus20.85
Thyroid44.05
Tongue43.1
Tonsil21
Trachea13.95
TrigeminalGanglion63.45
Uterus27
UterusCorpus21
WholeBlood13.1
Wholebrain28.95
colon33.05
pineal_day299.86
pineal_night306.16
retina43.5
small_intestine17.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P362979
  • 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
Amygdala10.03 ± 0.25
Basal Forebrain10.01 ± 0.19
Basal Part of Pons10.33 ± 0.29
Cerebellar Cortex9.84 ± 0.29
Cerebellar Nuclei10.31 ± 0.25
Claustrum10.3 ± 0.45
Epithalamus9.79 ± 0.36
Frontal Lobe9.99 ± 0.31
Globus Pallidus10.28 ± 0.18
Hypothalamus10.29 ± 0.22
Insula9.85 ± 0.32
Limbic Lobe10.25 ± 0.37
Mesencephalon10.11 ± 0.32
Myelencephalon10.04 ± 0.29
Occipital Lobe10.38 ± 0.29
Parietal Lobe10.11 ± 0.29
Pontine Tegmentum10.09 ± 0.26
Striatum10.1 ± 0.26
Subthalamus10.17 ± 0.17
Temporal Lobe10 ± 0.24
Thalamus10.07 ± 0.21
White Matter10.61 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rufy3CBCerebellum100
100
Rufy3CTXCerebral cortex100
100
Rufy3HIPHippocampal region100
100
Rufy3HPFHippocampal formation100
100
Rufy3HYHypothalamus100
100
Rufy3LSXLateral septal complex100
100
Rufy3MBMidbrain100
100
Rufy3MYMedulla100
100
Rufy3OLFOlfactory bulb100
100
Rufy3PPons100
100
Rufy3PALPallidum100
100
Rufy3RHPRetrohippocampal region100
100
Rufy3sAMYStriatum-like amygdalar nuclei100
100
Rufy3STRStriatum100
100
Rufy3STRdStriatum dorsal region100
100
Rufy3STRvStriatum ventral region100
100
Rufy3THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00079033 21 93 113 TLDSDYAPLQQFFVVMEHCLK 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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