AutismKB 2.0

Annotation Detail for RPRD1A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RPRD1A ( FLJ10656,HsT3101,MGC19513,P15RS )
Gene Full Name: regulation of nuclear pre-mRNA domain containing 1A
Band: 18q12.2
Quick LinksEntrez ID:55197; OMIM: 610347; Uniprot ID:RPR1A_HUMAN; ENSEMBL ID: ENSG00000141425; HGNC ID: 25560
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 body6 / 7076184
blastocyst2 / 6231932
fetus67 / 564012118
neonate3 / 3109796
infant1 / 2362042
juvenile6 / 55556107
adult140 / 193912172
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma4 / 17475228
breast (mammary gland) tumor9 / 9417895
cervical tumor2 / 3436658
chondrosarcoma9 / 82823108
colorectal tumor2 / 11424617
esophageal tumor3 / 17290173
gastrointestinal tumor4 / 11936933
germ cell tumor27 / 263845102
glioma2 / 10688318
head and neck tumor6 / 13630244
kidney tumor7 / 68959101
leukemia1 / 9584210
liver tumor4 / 9635941
lung tumor5 / 10312748
lymphoma5 / 7175569
non-neoplasia10 / 97250102
normal328 / 336030797
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer8 / 10268077
retinoblastoma10 / 46356215
skin tumor3 / 12494924
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor15 / 90257166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland9 / 33197271
ascites2 / 4001549
bladder7 / 29757235
blood3 / 12347824
bone8 / 71655111
bone marrow2 / 4880140
brain183 / 1100989166
cervix5 / 48171103
connective tissue6 / 14925540
ear1 / 1621261
embryonic tissue12 / 21572255
esophagus3 / 20209148
eye27 / 211054127
heart8 / 8962689
intestine8 / 23447234
kidney19 / 21177789
larynx0 / 241450 
liver10 / 20774348
lung31 / 33697491
lymph3 / 4427067
lymph node6 / 9161065
mammary gland17 / 153271110
mouth7 / 67052104
muscle6 / 10771555
nerve5 / 15768317
ovary4 / 10205139
pancreas2 / 2148129
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta12 / 28082542
prostate14 / 18934573
salivary gland2 / 2015599
skin14 / 21057466
spleen1 / 5395218
stomach4 / 9661941
testis43 / 330442130
thymus11 / 81131135
thyroid1 / 4747321
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus34 / 232878145
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218209_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts12
Adipocyte6.3
AdrenalCortex6.8
Adrenalgland5.55
Amygdala65.55
Appendix6.75
AtrioventricularNode5.15
BDCA4+_DentriticCells10.45
Bonemarrow6.4
BronchialEpithelialCells22.95
CD105+_Endothelial6.35
CD14+_Monocytes6.45
CD19+_BCells(neg._sel.)6.45
CD33+_Myeloid7.9
CD34+7.85
CD4+_Tcells6.05
CD56+_NKCells5.9
CD71+_EarlyErythroid4.85
CD8+_Tcells5.35
CardiacMyocytes8.55
Caudatenucleus6.05
Cerebellum8.75
CerebellumPeduncles7.4
CiliaryGanglion4.75
CingulateCortex7.7
Colorectaladenocarcinoma6.2
DorsalRootGanglion5.15
FetalThyroid6.15
Fetalbrain8.1
Fetalliver5.65
Fetallung4.9
GlobusPallidus5.6
Heart8.4
Hypothalamus12.4
Kidney5.2
Leukemia_chronicMyelogenousK-56210.8
Leukemia_promyelocytic-HL-6034.75
Leukemialymphoblastic(MOLT-4)4.85
Liver8.75
Lung7
Lymphnode5.15
Lymphoma_burkitts(Daudi)8.25
Lymphoma_burkitts(Raji)10.5
MedullaOblongata7.05
OccipitalLobe21.6
OlfactoryBulb4.75
Ovary4.4
Pancreas5.2
PancreaticIslet6.8
ParietalLobe6.8
Pituitary11.05
Placenta6.45
Pons6
PrefrontalCortex18.75
Prostate9.85
Salivarygland5.15
SkeletalMuscle7.55
Skin5.15
SmoothMuscle7.25
Spinalcord10.4
SubthalamicNucleus6
SuperiorCervicalGanglion8.25
TemporalLobe5.75
Testis5.45
TestisGermCell5.1
TestisIntersitial5.2
TestisLeydigCell6.35
TestisSeminiferousTubule5.35
Thalamus6.55
Thymus4.75
Thyroid9.7
Tongue6.4
Tonsil6.2
Trachea5.8
TrigeminalGanglion7
Uterus5.1
UterusCorpus5.85
WholeBlood7.45
Wholebrain35.25
colon13.2
pineal_day16.58
pineal_night44.32
retina7.725
small_intestine6.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P55639
  • 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
Amygdala7.71 ± 0.24
Basal Forebrain7.57 ± 0.21
Basal Part of Pons7.76 ± 0.21
Cerebellar Cortex7.36 ± 0.23
Cerebellar Nuclei7.54 ± 0.28
Claustrum7.86 ± 0.21
Epithalamus7.46 ± 0.33
Frontal Lobe7.62 ± 0.29
Globus Pallidus7.46 ± 0.27
Hypothalamus7.62 ± 0.27
Insula7.72 ± 0.22
Limbic Lobe7.71 ± 0.3
Mesencephalon7.62 ± 0.27
Myelencephalon7.58 ± 0.28
Occipital Lobe7.74 ± 0.25
Parietal Lobe7.75 ± 0.3
Pontine Tegmentum7.59 ± 0.28
Striatum7.28 ± 0.44
Subthalamus7.77 ± 0.17
Temporal Lobe7.65 ± 0.23
Thalamus7.59 ± 0.3
White Matter7.54 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BC021395CBCerebellum25.32
38.78
BC021395CTXCerebral cortex100
100
BC021395HIPHippocampal region100
100
BC021395HPFHippocampal formation90.84
100
BC021395HYHypothalamus34.46
29.25
BC021395LSXLateral septal complex85.33
74.1
BC021395MBMidbrain37.55
35.97
BC021395MYMedulla49.05
58.98
BC021395OLFOlfactory bulb76.65
80.9
BC021395PPons36.78
42.67
BC021395PALPallidum44.54
43.99
BC021395RHPRetrohippocampal region50.95
46.06
BC021395sAMYStriatum-like amygdalar nuclei49.44
45.07
BC021395STRStriatum79.16
66.88
BC021395STRdStriatum dorsal region82.94
68.28
BC021395STRvStriatum ventral region84.3
70.48
BC021395THThalamus38.61
36.91
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00063690 18 169 186 ALQDLENAASGDAAVHQR 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