AutismKB 2.0

Annotation Detail for RPUSD1


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Basic Information Top
Gene Symbol:RPUSD1 ( C16orf40,MGC19600,RLUCL )
Gene Full Name: RNA pseudouridylate synthase domain containing 1
Band: 16p13.3
Quick LinksEntrez ID:113000; OMIM: NA; Uniprot ID:RUSD1_HUMAN; ENSEMBL ID: ENSG00000007376; HGNC ID: 14173
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 body1 / 7076114
blastocyst1 / 6231916
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult83 / 193912142
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor6 / 26384522
glioma4 / 10688337
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor15 / 103127145
lymphoma11 / 71755153
non-neoplasia0 / 972500 
normal71 / 336030721
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS18 / 125680143
prostate cancer26 / 102680253
retinoblastoma1 / 4635621
skin tumor15 / 124949120
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood4 / 12347832
bone1 / 7165513
bone marrow1 / 4880120
brain24 / 110098921
cervix7 / 48171145
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye8 / 21105437
heart0 / 896260 
intestine3 / 23447212
kidney2 / 2117779
larynx0 / 241450 
liver2 / 2077439
lung19 / 33697456
lymph3 / 4427067
lymph node0 / 916100 
mammary gland5 / 15327132
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary1 / 1020519
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta12 / 28082542
prostate26 / 189345137
salivary gland2 / 2015599
skin17 / 21057480
spleen0 / 539520 
stomach7 / 9661972
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus11 / 23287847
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1448_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
Amygdala3.02 ± 0.58
Basal Forebrain2.44 ± 0.41
Basal Part of Pons2.35 ± 0.59
Cerebellar Cortex2.74 ± 0.87
Cerebellar Nuclei2.53 ± 0.55
Claustrum3.01 ± 0.98
Epithalamus2.38 ± 0.7
Frontal Lobe2.67 ± 0.73
Globus Pallidus2.63 ± 0.55
Hypothalamus2.25 ± 0.62
Insula2.42 ± 0.71
Limbic Lobe2.91 ± 0.67
Mesencephalon2.77 ± 0.6
Myelencephalon2.76 ± 0.63
Occipital Lobe3.03 ± 0.68
Parietal Lobe2.77 ± 0.65
Pontine Tegmentum2.78 ± 0.86
Striatum2.96 ± 0.85
Subthalamus2.66 ± 1.06
Temporal Lobe2.68 ± 0.65
Thalamus2.65 ± 0.68
White Matter1.98 ± 1.02
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rpusd1CBCerebellum11.74
12.74
Rpusd1CTXCerebral cortex50.91
40.13
Rpusd1HIPHippocampal region44.44
49.22
Rpusd1HPFHippocampal formation52.37
51.58
Rpusd1HYHypothalamus10.77
8.91
Rpusd1LSXLateral septal complex3.64
2.83
Rpusd1MBMidbrain13.46
13.37
Rpusd1MYMedulla15.81
20.05
Rpusd1OLFOlfactory bulb35.61
29.53
Rpusd1PPons22.12
26.32
Rpusd1PALPallidum11.35
10.31
Rpusd1RHPRetrohippocampal region71.43
58.54
Rpusd1sAMYStriatum-like amygdalar nuclei22.73
16.8
Rpusd1STRStriatum29.96
20.77
Rpusd1STRdStriatum dorsal region35.31
24.48
Rpusd1STRvStriatum ventral region30.46
20.16
Rpusd1THThalamus14.32
11.55
Peptide Top

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