AutismKB 2.0

Annotation Detail for MRPL50


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Basic Information Top
Gene Symbol:MRPL50 ( FLJ20493,FLJ21990,MRP-L50 )
Gene Full Name: mitochondrial ribosomal protein L50
Band: 9q31.1
Quick LinksEntrez ID:54534; OMIM: 611854; Uniprot ID:RM50_HUMAN; ENSEMBL ID: ENSG00000136897; HGNC ID: 16654
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
blastocyst3 / 6231948
fetus30 / 56401253
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult53 / 193912127
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma24 / 174751373
breast (mammary gland) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor4 / 9635941
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal155 / 336030746
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder24 / 29757806
blood1 / 1234788
bone2 / 7165527
bone marrow3 / 4880161
brain39 / 110098935
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye3 / 21105414
heart6 / 8962666
intestine9 / 23447238
kidney3 / 21177714
larynx0 / 241450 
liver14 / 20774367
lung4 / 33697411
lymph1 / 4427022
lymph node4 / 9161043
mammary gland9 / 15327158
mouth0 / 670520 
muscle11 / 107715102
nerve1 / 1576863
ovary0 / 1020510 
pancreas12 / 21481255
parathyroid4 / 20539194
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta5 / 28082517
prostate2 / 18934510
salivary gland3 / 20155148
skin18 / 21057485
spleen0 / 539520 
stomach3 / 9661931
testis7 / 33044221
thymus5 / 8113161
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus7 / 23287830
vascular6 / 51780115
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4770_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
Amygdala7.64 ± 0.42
Basal Forebrain7.46 ± 0.26
Basal Part of Pons7.27 ± 0.37
Cerebellar Cortex7.3 ± 0.35
Cerebellar Nuclei7.86 ± 0.31
Claustrum7.64 ± 0.39
Epithalamus7.04 ± 0.46
Frontal Lobe7.3 ± 0.37
Globus Pallidus7.97 ± 0.16
Hypothalamus7.28 ± 0.48
Insula7.28 ± 0.44
Limbic Lobe7.58 ± 0.4
Mesencephalon7.48 ± 0.39
Myelencephalon7.43 ± 0.41
Occipital Lobe7.77 ± 0.41
Parietal Lobe7.49 ± 0.39
Pontine Tegmentum7.48 ± 0.36
Striatum7.65 ± 0.35
Subthalamus7.78 ± 0.12
Temporal Lobe7.37 ± 0.37
Thalamus7.31 ± 0.32
White Matter7.82 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mrpl50CBCerebellum0
0
Mrpl50CTXCerebral cortex0
0
Mrpl50HIPHippocampal region0
0
Mrpl50HPFHippocampal formation0
0
Mrpl50HYHypothalamus0
0
Mrpl50LSXLateral septal complex0
0
Mrpl50MBMidbrain0
0
Mrpl50MYMedulla0
0
Mrpl50OLFOlfactory bulb0
0
Mrpl50PPons0
0
Mrpl50PALPallidum0
0
Mrpl50RHPRetrohippocampal region0
0
Mrpl50sAMYStriatum-like amygdalar nuclei0
0
Mrpl50STRStriatum0
0
Mrpl50STRdStriatum dorsal region0
0
Mrpl50STRvStriatum ventral region0
0
Mrpl50THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002519 19 98 116 FNLLAHLADDLGHVVPNSR Peptide Atlas
RM50_HUMAN_58 11 58 68 AYTPPEDLQSR PRIDE
RM50_HUMAN_97 19 97 115 FNLLAHLADDLGHVVPNSR 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