AutismKB 2.0

Annotation Detail for MRPL54


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Basic Information Top
Gene Symbol:MRPL54 ( L54mt,MRP-L54 )
Gene Full Name: mitochondrial ribosomal protein L54
Band: 19p13.3
Quick LinksEntrez ID:116541; OMIM: 611858; Uniprot ID:RM54_HUMAN; ENSEMBL ID: ENSG00000183617; HGNC ID: 16685
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 body0 / 707610 
blastocyst1 / 6231916
fetus13 / 56401223
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult54 / 193912127
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 
chondrosarcoma4 / 8282348
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor3 / 26384511
glioma8 / 10688374
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal73 / 336030721
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites4 / 4001599
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow4 / 4880181
brain13 / 110098911
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine3 / 23447212
kidney7 / 21177733
larynx0 / 241450 
liver0 / 2077430 
lung11 / 33697432
lymph1 / 4427022
lymph node2 / 9161021
mammary gland2 / 15327113
mouth0 / 670520 
muscle8 / 10771574
nerve0 / 157680 
ovary4 / 10205139
pancreas6 / 21481227
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta4 / 28082514
prostate5 / 18934526
salivary gland0 / 201550 
skin8 / 21057437
spleen1 / 5395218
stomach5 / 9661951
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular2 / 5178038
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4680_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
Amygdala4.28 ± 0.59
Basal Forebrain4.12 ± 0.25
Basal Part of Pons4.48 ± 0.58
Cerebellar Cortex4.41 ± 0.58
Cerebellar Nuclei4.19 ± 0.42
Claustrum3.74 ± 0.83
Epithalamus4.31 ± 0.63
Frontal Lobe4.43 ± 0.53
Globus Pallidus3.9 ± 0.65
Hypothalamus4.14 ± 0.5
Insula4.38 ± 0.38
Limbic Lobe4.17 ± 0.49
Mesencephalon4.25 ± 0.46
Myelencephalon4.21 ± 0.57
Occipital Lobe3.94 ± 0.37
Parietal Lobe4.14 ± 0.46
Pontine Tegmentum4.25 ± 0.48
Striatum4.18 ± 0.44
Subthalamus4 ± 0.63
Temporal Lobe4.35 ± 0.44
Thalamus4.18 ± 0.52
White Matter3.76 ± 0.08
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mrpl54CBCerebellum14.48
18.23
Mrpl54CTXCerebral cortex11.6
9.21
Mrpl54HIPHippocampal region8.96
9.48
Mrpl54HPFHippocampal formation8.97
8.56
Mrpl54HYHypothalamus5.18
4.94
Mrpl54LSXLateral septal complex2.8
2.13
Mrpl54MBMidbrain7.02
8.13
Mrpl54MYMedulla14.08
20.2
Mrpl54OLFOlfactory bulb13.6
11.39
Mrpl54PPons11.94
15.99
Mrpl54PALPallidum7.76
9.18
Mrpl54RHPRetrohippocampal region9.41
7.65
Mrpl54sAMYStriatum-like amygdalar nuclei5.07
4.34
Mrpl54STRStriatum4.39
3.79
Mrpl54STRdStriatum dorsal region3.86
3.41
Mrpl54STRvStriatum ventral region6.22
5.02
Mrpl54THThalamus10.4
10.14
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