AutismKB 2.0

Annotation Detail for RUFY1


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Basic Information Top
Gene Symbol:RUFY1 ( FLJ22251,RABIP4,ZFYVE12 )
Gene Full Name: RUN and FYVE domain containing 1
Band: 5q35.3
Quick LinksEntrez ID:80230; OMIM: 610327; Uniprot ID:RUFY1_HUMAN; ENSEMBL ID: ENSG00000176783; HGNC ID: 19760
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 body3 / 7076142
blastocyst2 / 6231932
fetus21 / 56401237
neonate0 / 310970 
infant1 / 2362042
juvenile3 / 5555653
adult91 / 193912146
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor7 / 9417874
cervical tumor0 / 343660 
chondrosarcoma9 / 82823108
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor9 / 26384534
glioma7 / 10688365
head and neck tumor7 / 13630251
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor5 / 9635951
lung tumor6 / 10312758
lymphoma6 / 7175583
non-neoplasia5 / 9725051
normal132 / 336030739
ovarian tumor10 / 76682130
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites1 / 4001524
bladder2 / 2975767
blood2 / 12347816
bone5 / 7165569
bone marrow0 / 488010 
brain53 / 110098948
cervix1 / 4817120
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye4 / 21105418
heart2 / 8962622
intestine8 / 23447234
kidney10 / 21177747
larynx0 / 241450 
liver5 / 20774324
lung27 / 33697480
lymph4 / 4427090
lymph node16 / 91610174
mammary gland8 / 15327152
mouth4 / 6705259
muscle7 / 10771564
nerve0 / 157680 
ovary11 / 102051107
pancreas9 / 21481241
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta4 / 28082514
prostate6 / 18934531
salivary gland0 / 201550 
skin3 / 21057414
spleen4 / 5395274
stomach2 / 9661920
testis4 / 33044212
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus12 / 23287851
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218243_at
Cell line Expression level Expression bar
721_B_lymphoblasts31.05
Adipocyte28.9
AdrenalCortex25.3
Adrenalgland21.3
Amygdala25.95
Appendix23.5
AtrioventricularNode15.25
BDCA4+_DentriticCells182.75
Bonemarrow37.4
BronchialEpithelialCells27.1
CD105+_Endothelial99
CD14+_Monocytes123.8
CD19+_BCells(neg._sel.)174.5
CD33+_Myeloid173.35
CD34+255.85
CD4+_Tcells46.8
CD56+_NKCells97.65
CD71+_EarlyErythroid33.2
CD8+_Tcells51.7
CardiacMyocytes16.85
Caudatenucleus16.5
Cerebellum11.95
CerebellumPeduncles28.1
CiliaryGanglion17.05
CingulateCortex22.5
Colorectaladenocarcinoma38.95
DorsalRootGanglion16.95
FetalThyroid31.4
Fetalbrain18
Fetalliver21.9
Fetallung28.2
GlobusPallidus16.25
Heart25.9
Hypothalamus28.65
Kidney18.6
Leukemia_chronicMyelogenousK-56226.95
Leukemia_promyelocytic-HL-6033.1
Leukemialymphoblastic(MOLT-4)36.25
Liver28.85
Lung28.75
Lymphnode50.2
Lymphoma_burkitts(Daudi)34.2
Lymphoma_burkitts(Raji)37.4
MedullaOblongata20.75
OccipitalLobe19.8
OlfactoryBulb35.9
Ovary14.15
Pancreas28.1
PancreaticIslet36.35
ParietalLobe20.1
Pituitary32.95
Placenta28.3
Pons18.55
PrefrontalCortex32.65
Prostate53.95
Salivarygland20.2
SkeletalMuscle23
Skin19.95
SmoothMuscle27.25
Spinalcord28.05
SubthalamicNucleus19.2
SuperiorCervicalGanglion27.8
TemporalLobe16.3
Testis14.6
TestisGermCell19.9
TestisIntersitial16.05
TestisLeydigCell21.15
TestisSeminiferousTubule12.5
Thalamus19.05
Thymus25.7
Thyroid62.55
Tongue29.15
Tonsil39.75
Trachea21.05
TrigeminalGanglion24.1
Uterus46.7
UterusCorpus19.5
WholeBlood260.7
Wholebrain21
colon25.95
pineal_day31.64
pineal_night28.36
retina31.175
small_intestine24.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13360_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
Amygdala5.59 ± 0.53
Basal Forebrain5.42 ± 0.28
Basal Part of Pons5.19 ± 0.37
Cerebellar Cortex5.35 ± 0.25
Cerebellar Nuclei5.27 ± 0.34
Claustrum5.57 ± 0.52
Epithalamus5.43 ± 0.39
Frontal Lobe5.17 ± 0.36
Globus Pallidus6.01 ± 0.25
Hypothalamus4.86 ± 0.36
Insula5.04 ± 0.41
Limbic Lobe5.46 ± 0.43
Mesencephalon5.44 ± 0.4
Myelencephalon5.35 ± 0.37
Occipital Lobe5.6 ± 0.45
Parietal Lobe5.3 ± 0.39
Pontine Tegmentum5.32 ± 0.38
Striatum5.56 ± 0.47
Subthalamus5.09 ± 0.29
Temporal Lobe5.27 ± 0.35
Thalamus5.32 ± 0.31
White Matter5.98 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rufy1CBCerebellum0
0
Rufy1CTXCerebral cortex0
0
Rufy1HIPHippocampal region0
0
Rufy1HPFHippocampal formation0
0
Rufy1HYHypothalamus0
0
Rufy1LSXLateral septal complex0
0
Rufy1MBMidbrain0
0
Rufy1MYMedulla0
0
Rufy1OLFOlfactory bulb0
0
Rufy1PPons0
0
Rufy1PALPallidum0
0
Rufy1RHPRetrohippocampal region0
0
Rufy1sAMYStriatum-like amygdalar nuclei0
0
Rufy1STRStriatum0
0
Rufy1STRdStriatum dorsal region0
0
Rufy1STRvStriatum ventral region0
0
Rufy1THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00096074 12 209 220 HLSCTVGDLQTK Peptide Atlas
RUFY1_HUMAN_0 0 0 0 LQEELSAATDR 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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