AutismKB 2.0

Annotation Detail for MTRF1L


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Basic Information Top
Gene Symbol:MTRF1L ( MGC102748,MRF1L,mtRF1a )
Gene Full Name: mitochondrial translational release factor 1-like
Band: 6q25.2
Quick LinksEntrez ID:54516; OMIM: 613542; Uniprot ID:RF1ML_HUMAN; ENSEMBL ID: ENSG00000112031; HGNC ID: 21051
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
fetus39 / 56401269
neonate3 / 3109796
infant0 / 236200 
juvenile2 / 5555635
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) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor18 / 26384568
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor4 / 9635941
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal139 / 336030741
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor5 / 12494940
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
blood3 / 12347824
bone2 / 7165527
bone marrow1 / 4880120
brain46 / 110098941
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus1 / 2020949
eye5 / 21105423
heart7 / 8962678
intestine5 / 23447221
kidney24 / 211777113
larynx0 / 241450 
liver4 / 20774319
lung13 / 33697438
lymph0 / 442700 
lymph node4 / 9161043
mammary gland6 / 15327139
mouth6 / 6705289
muscle1 / 1077159
nerve1 / 1576863
ovary3 / 10205129
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate5 / 18934526
salivary gland0 / 201550 
skin13 / 21057461
spleen3 / 5395255
stomach3 / 9661931
testis15 / 33044245
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus5 / 23287821
vascular3 / 5178057
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P214882
  • 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
Amygdala4.81 ± 0.36
Basal Forebrain4.85 ± 0.42
Basal Part of Pons4.72 ± 0.33
Cerebellar Cortex4.58 ± 0.44
Cerebellar Nuclei5.16 ± 0.44
Claustrum4.9 ± 0.51
Epithalamus4.51 ± 0.33
Frontal Lobe4.72 ± 0.43
Globus Pallidus5.34 ± 0.34
Hypothalamus4.73 ± 0.38
Insula4.57 ± 0.47
Limbic Lobe4.61 ± 0.43
Mesencephalon4.86 ± 0.49
Myelencephalon4.69 ± 0.42
Occipital Lobe4.97 ± 0.32
Parietal Lobe4.86 ± 0.35
Pontine Tegmentum4.8 ± 0.41
Striatum4.43 ± 0.43
Subthalamus5.2 ± 0.19
Temporal Lobe4.61 ± 0.42
Thalamus4.9 ± 0.39
White Matter4.95 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mtrf1lCBCerebellum0.86
1.22
Mtrf1lCTXCerebral cortex0.26
0.4
Mtrf1lHIPHippocampal region0.79
1.06
Mtrf1lHPFHippocampal formation0.55
0.86
Mtrf1lHYHypothalamus0.15
0.15
Mtrf1lLSXLateral septal complex0.14
0.12
Mtrf1lMBMidbrain0.16
0.26
Mtrf1lMYMedulla0.57
0.75
Mtrf1lOLFOlfactory bulb0.61
0.46
Mtrf1lPPons0.25
0.35
Mtrf1lPALPallidum0.34
0.28
Mtrf1lRHPRetrohippocampal region0.17
0.47
Mtrf1lsAMYStriatum-like amygdalar nuclei0.57
0.35
Mtrf1lSTRStriatum0.25
0.23
Mtrf1lSTRdStriatum dorsal region0.18
0.21
Mtrf1lSTRvStriatum ventral region0.34
0.28
Mtrf1lTHThalamus0.4
0.42
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