AutismKB 2.0

Annotation Detail for MRPL40


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Basic Information Top
Gene Symbol:MRPL40 ( FLJ41774,MGC9400,MRP-L22,NLVCF,URIM )
Gene Full Name: mitochondrial ribosomal protein L40
Band: 22q11.21
Quick LinksEntrez ID:64976; OMIM: 605089; Uniprot ID:RM40_HUMAN; ENSEMBL ID: ENSG00000185608; HGNC ID: 14491
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
blastocyst0 / 623190 
fetus36 / 56401263
neonate2 / 3109764
infant2 / 2362084
juvenile1 / 5555617
adult62 / 193912131
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor3 / 26384511
glioma6 / 10688356
head and neck tumor4 / 13630229
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal128 / 336030738
ovarian tumor3 / 7668239
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor10 / 12494980
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood9 / 12347872
bone3 / 7165541
bone marrow0 / 488010 
brain32 / 110098929
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye11 / 21105452
heart7 / 8962678
intestine10 / 23447242
kidney10 / 21177747
larynx0 / 241450 
liver1 / 2077434
lung23 / 33697468
lymph1 / 4427022
lymph node3 / 9161032
mammary gland3 / 15327119
mouth6 / 6705289
muscle9 / 10771583
nerve0 / 157680 
ovary3 / 10205129
pancreas19 / 21481288
parathyroid3 / 20539146
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta4 / 28082514
prostate5 / 18934526
salivary gland3 / 20155148
skin11 / 21057452
spleen0 / 539520 
stomach1 / 9661910
testis4 / 33044212
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord2 / 13680146
uterus13 / 23287855
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203152_at
Cell line Expression level Expression bar
721_B_lymphoblasts466.5
Adipocyte132.35
AdrenalCortex59.55
Adrenalgland85.25
Amygdala51.45
Appendix8.85
AtrioventricularNode7.85
BDCA4+_DentriticCells219.1
Bonemarrow32.4
BronchialEpithelialCells259.8
CD105+_Endothelial127.55
CD14+_Monocytes168.55
CD19+_BCells(neg._sel.)322.05
CD33+_Myeloid71.3
CD34+159.2
CD4+_Tcells62.45
CD56+_NKCells172.65
CD71+_EarlyErythroid23.85
CD8+_Tcells48.85
CardiacMyocytes89.85
Caudatenucleus48.75
Cerebellum43.15
CerebellumPeduncles69.75
CiliaryGanglion19.05
CingulateCortex61.5
Colorectaladenocarcinoma72.9
DorsalRootGanglion25.2
FetalThyroid200.5
Fetalbrain24
Fetalliver47.4
Fetallung46.4
GlobusPallidus27.55
Heart152.65
Hypothalamus126.7
Kidney74.85
Leukemia_chronicMyelogenousK-562336.3
Leukemia_promyelocytic-HL-6081.4
Leukemialymphoblastic(MOLT-4)41.6
Liver174.75
Lung59.7
Lymphnode40.3
Lymphoma_burkitts(Daudi)237.8
Lymphoma_burkitts(Raji)97.75
MedullaOblongata47.15
OccipitalLobe46.05
OlfactoryBulb48.8
Ovary31.85
Pancreas47.15
PancreaticIslet177.9
ParietalLobe66.85
Pituitary153.85
Placenta37.85
Pons51.85
PrefrontalCortex72.4
Prostate103.1
Salivarygland47.65
SkeletalMuscle105.1
Skin17.05
SmoothMuscle168.35
Spinalcord67.95
SubthalamicNucleus54.4
SuperiorCervicalGanglion34.1
TemporalLobe47.35
Testis87.5
TestisGermCell78.55
TestisIntersitial64.3
TestisLeydigCell61
TestisSeminiferousTubule67.1
Thalamus66.55
Thymus41.2
Thyroid288.7
Tongue66.3
Tonsil54.2
Trachea60.25
TrigeminalGanglion28.6
Uterus35.6
UterusCorpus69.8
WholeBlood52.3
Wholebrain84.45
colon43.75
pineal_day218.28
pineal_night211.94
retina100.425
small_intestine49.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_671_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
Amygdala7.43 ± 0.25
Basal Forebrain7.43 ± 0.19
Basal Part of Pons7.64 ± 0.11
Cerebellar Cortex7.32 ± 0.19
Cerebellar Nuclei7.67 ± 0.28
Claustrum7.14 ± 0.32
Epithalamus7.66 ± 0.18
Frontal Lobe7.46 ± 0.2
Globus Pallidus7.63 ± 0.17
Hypothalamus7.45 ± 0.28
Insula7.43 ± 0.16
Limbic Lobe7.36 ± 0.23
Mesencephalon7.4 ± 0.29
Myelencephalon7.45 ± 0.22
Occipital Lobe7.43 ± 0.22
Parietal Lobe7.39 ± 0.22
Pontine Tegmentum7.43 ± 0.21
Striatum7.7 ± 0.18
Subthalamus7.46 ± 0.02
Temporal Lobe7.41 ± 0.23
Thalamus7.49 ± 0.21
White Matter7.54 ± 0.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mrpl40CBCerebellum23.62
32.38
Mrpl40CTXCerebral cortex100
94.08
Mrpl40HIPHippocampal region56.22
89.31
Mrpl40HPFHippocampal formation73.64
89.63
Mrpl40HYHypothalamus32.68
28.28
Mrpl40LSXLateral septal complex67.84
62.37
Mrpl40MBMidbrain27.64
26.31
Mrpl40MYMedulla37.94
43.58
Mrpl40OLFOlfactory bulb63.29
59.67
Mrpl40PPons32.8
38.07
Mrpl40PALPallidum27.08
25.52
Mrpl40RHPRetrohippocampal region99.47
90.72
Mrpl40sAMYStriatum-like amygdalar nuclei49.03
40.46
Mrpl40STRStriatum55.08
42.85
Mrpl40STRdStriatum dorsal region57.04
43.17
Mrpl40STRvStriatum ventral region50.29
37.91
Mrpl40THThalamus36.66
34.58
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00064197 16 78 93 ATQELIPIEDFITPLK 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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