AutismKB 2.0

Annotation Detail for RPP40


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RPP40 ( RNASEP1,bA428J1.3 )
Gene Full Name: ribonuclease P/MRP 40kDa subunit
Band: 6p25.1
Quick LinksEntrez ID:10799; OMIM: 606117; Uniprot ID:RPP40_HUMAN; ENSEMBL ID: ENSG00000124787; HGNC ID: 20992
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
blastocyst0 / 623190 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult28 / 193912114
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal30 / 33603078
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood0 / 1234780 
bone5 / 7165569
bone marrow0 / 488010 
brain13 / 110098911
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine7 / 23447229
kidney3 / 21177714
larynx1 / 2414541
liver3 / 20774314
lung7 / 33697420
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta7 / 28082524
prostate1 / 1893455
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach1 / 9661910
testis6 / 33044218
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213427_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.75
Adipocyte4.35
AdrenalCortex4.6
Adrenalgland6.4
Amygdala7.8
Appendix4.4
AtrioventricularNode3.35
BDCA4+_DentriticCells8.8
Bonemarrow4.55
BronchialEpithelialCells26.5
CD105+_Endothelial33.45
CD14+_Monocytes9.35
CD19+_BCells(neg._sel.)12.9
CD33+_Myeloid5.7
CD34+45.5
CD4+_Tcells8.8
CD56+_NKCells7.65
CD71+_EarlyErythroid4.15
CD8+_Tcells4.7
CardiacMyocytes5.5
Caudatenucleus3.9
Cerebellum3.5
CerebellumPeduncles5
CiliaryGanglion3.1
CingulateCortex4.8
Colorectaladenocarcinoma9.7
DorsalRootGanglion3.6
FetalThyroid5.75
Fetalbrain6
Fetalliver5.55
Fetallung5.1
GlobusPallidus3.2
Heart5.55
Hypothalamus6.25
Kidney3.25
Leukemia_chronicMyelogenousK-56225.2
Leukemia_promyelocytic-HL-6018.1
Leukemialymphoblastic(MOLT-4)3.6
Liver6.15
Lung4.9
Lymphnode3.8
Lymphoma_burkitts(Daudi)25.1
Lymphoma_burkitts(Raji)13.25
MedullaOblongata4
OccipitalLobe4
OlfactoryBulb3.45
Ovary2.9
Pancreas3.55
PancreaticIslet4.65
ParietalLobe4.6
Pituitary5.4
Placenta4.45
Pons4.15
PrefrontalCortex5.55
Prostate10.25
Salivarygland3.55
SkeletalMuscle4.55
Skin3.3
SmoothMuscle6.45
Spinalcord4.65
SubthalamicNucleus4
SuperiorCervicalGanglion5.15
TemporalLobe4
Testis8.5
TestisGermCell4
TestisIntersitial3.65
TestisLeydigCell4.45
TestisSeminiferousTubule4.85
Thalamus4.45
Thymus5.15
Thyroid5.5
Tongue4.25
Tonsil4.3
Trachea3.7
TrigeminalGanglion4.3
Uterus6.95
UterusCorpus3.95
WholeBlood4.95
Wholebrain6.15
colon4.05
pineal_day5.52
pineal_night5.3
retina5.125
small_intestine4.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8140_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
Amygdala4.79 ± 0.55
Basal Forebrain4.26 ± 0.64
Basal Part of Pons4.86 ± 0.5
Cerebellar Cortex4.42 ± 0.37
Cerebellar Nuclei4.49 ± 0.41
Claustrum4.41 ± 0.89
Epithalamus4.54 ± 0.41
Frontal Lobe5.11 ± 0.48
Globus Pallidus4.21 ± 0.63
Hypothalamus5.48 ± 0.43
Insula5.14 ± 0.4
Limbic Lobe4.85 ± 0.61
Mesencephalon4.64 ± 0.58
Myelencephalon4.79 ± 0.65
Occipital Lobe4.17 ± 0.72
Parietal Lobe4.85 ± 0.58
Pontine Tegmentum4.82 ± 0.6
Striatum4.43 ± 0.71
Subthalamus5 ± 0.34
Temporal Lobe5 ± 0.5
Thalamus4.55 ± 0.55
White Matter4.53 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rpp40CBCerebellum2.39
2.62
Rpp40CTXCerebral cortex3.58
2.33
Rpp40HIPHippocampal region4.77
4.55
Rpp40HPFHippocampal formation4.06
3.58
Rpp40HYHypothalamus2.38
1.65
Rpp40LSXLateral septal complex2.09
1.19
Rpp40MBMidbrain1.53
1.73
Rpp40MYMedulla4.08
4.09
Rpp40OLFOlfactory bulb7.18
4.49
Rpp40PPons3.12
2.95
Rpp40PALPallidum2.46
2.02
Rpp40RHPRetrohippocampal region2.81
2.15
Rpp40sAMYStriatum-like amygdalar nuclei4.83
3.25
Rpp40STRStriatum2.03
1.34
Rpp40STRdStriatum dorsal region1.51
1.07
Rpp40STRvStriatum ventral region2.39
1.38
Rpp40THThalamus3.01
2.39
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00073189 25 115 139 LILSLDKDTYEETGLQGHPSQFSGR 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