AutismKB 2.0

Annotation Detail for MTRF1


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Basic Information Top
Gene Symbol:MTRF1 ( MGC47721,MRF1,MTTRF1,RF1 )
Gene Full Name: mitochondrial translational release factor 1
Band: 13q14.11
Quick LinksEntrez ID:9617; OMIM: 604601; Uniprot ID:RF1M_HUMAN; ENSEMBL ID: ENSG00000120662; HGNC ID: 7469
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
blastocyst1 / 6231916
fetus21 / 56401237
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult17 / 19391218
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) tumor0 / 941780 
cervical tumor2 / 3436658
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal69 / 336030720
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow2 / 4880140
brain16 / 110098914
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine2 / 2344728
kidney3 / 21177714
larynx1 / 2414541
liver1 / 2077434
lung2 / 3369745
lymph0 / 442700 
lymph node3 / 9161032
mammary gland2 / 15327113
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta3 / 28082510
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus5 / 23287821
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219822_at
Cell line Expression level Expression bar
721_B_lymphoblasts30.85
Adipocyte9.7
AdrenalCortex12.9
Adrenalgland8.65
Amygdala9.45
Appendix10.75
AtrioventricularNode8.45
BDCA4+_DentriticCells26.45
Bonemarrow10.6
BronchialEpithelialCells9.25
CD105+_Endothelial12.5
CD14+_Monocytes10.45
CD19+_BCells(neg._sel.)22.6
CD33+_Myeloid12.45
CD34+44.85
CD4+_Tcells130.7
CD56+_NKCells16.1
CD71+_EarlyErythroid9.55
CD8+_Tcells169.7
CardiacMyocytes23.75
Caudatenucleus8.8
Cerebellum7.9
CerebellumPeduncles11.8
CiliaryGanglion7.7
CingulateCortex10.55
Colorectaladenocarcinoma11.4
DorsalRootGanglion8.1
FetalThyroid9.85
Fetalbrain9.8
Fetalliver8.85
Fetallung6.35
GlobusPallidus7.65
Heart15.75
Hypothalamus10.6
Kidney8.55
Leukemia_chronicMyelogenousK-56210.05
Leukemia_promyelocytic-HL-6010.95
Leukemialymphoblastic(MOLT-4)8.05
Liver14
Lung10.5
Lymphnode10.7
Lymphoma_burkitts(Daudi)15.8
Lymphoma_burkitts(Raji)16.7
MedullaOblongata8.85
OccipitalLobe8.2
OlfactoryBulb7.8
Ovary7.25
Pancreas12.1
PancreaticIslet10.3
ParietalLobe11.55
Pituitary10.65
Placenta8.4
Pons9.7
PrefrontalCortex11.05
Prostate11.3
Salivarygland8.3
SkeletalMuscle17.2
Skin9.8
SmoothMuscle11.15
Spinalcord10.35
SubthalamicNucleus9.75
SuperiorCervicalGanglion12.55
TemporalLobe9.35
Testis8.1
TestisGermCell11.5
TestisIntersitial10.2
TestisLeydigCell13.35
TestisSeminiferousTubule11.4
Thalamus10.15
Thymus7.6
Thyroid12.2
Tongue13
Tonsil10.05
Trachea7.75
TrigeminalGanglion14.05
Uterus7.4
UterusCorpus10.9
WholeBlood10.9
Wholebrain7.8
colon12.5
pineal_day12.36
pineal_night13.02
retina11.9
small_intestine9.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P349821
  • 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
Amygdala4.83 ± 0.51
Basal Forebrain4.83 ± 0.23
Basal Part of Pons4.92 ± 0.33
Cerebellar Cortex4.98 ± 0.3
Cerebellar Nuclei4.73 ± 0.47
Claustrum4.45 ± 0.79
Epithalamus4.67 ± 0.6
Frontal Lobe4.58 ± 0.37
Globus Pallidus5.24 ± 0.45
Hypothalamus4.4 ± 0.45
Insula4.48 ± 0.33
Limbic Lobe4.74 ± 0.43
Mesencephalon4.63 ± 0.52
Myelencephalon4.66 ± 0.46
Occipital Lobe5.01 ± 0.4
Parietal Lobe4.72 ± 0.4
Pontine Tegmentum4.66 ± 0.45
Striatum4.79 ± 0.54
Subthalamus4.28 ± 0.19
Temporal Lobe4.59 ± 0.5
Thalamus4.65 ± 0.36
White Matter5.11 ± 0.55
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mtrf1CBCerebellum7.49
9.18
Mtrf1CTXCerebral cortex26.74
20.02
Mtrf1HIPHippocampal region24.74
26.08
Mtrf1HPFHippocampal formation26.42
25.34
Mtrf1HYHypothalamus7.68
5.68
Mtrf1LSXLateral septal complex1.65
2.32
Mtrf1MBMidbrain2.4
3.35
Mtrf1MYMedulla5.57
7.13
Mtrf1OLFOlfactory bulb35.99
29.88
Mtrf1PPons6.14
7.94
Mtrf1PALPallidum3.83
3.25
Mtrf1RHPRetrohippocampal region31.36
25.91
Mtrf1sAMYStriatum-like amygdalar nuclei10.65
7.66
Mtrf1STRStriatum6.49
4.82
Mtrf1STRdStriatum dorsal region5.38
4
Mtrf1STRvStriatum ventral region11.26
7.36
Mtrf1THThalamus3.59
3.01
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
RF1M_HUMAN_0 1 0 0 QNRNCILHLLSK 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