AutismKB 2.0

Annotation Detail for GFM2


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Basic Information Top
Gene Symbol:GFM2 ( EF-G2mt,EFG2,MRRF2,MST027,RRF2,RRF2mt,hEFG2,mEF-G 2 )
Gene Full Name: G elongation factor, mitochondrial 2
Band: 5q13.3
Quick LinksEntrez ID:84340; OMIM: 606544; Uniprot ID:RRF2M_HUMAN; ENSEMBL ID: ENSG00000164347; HGNC ID: 29682
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 body4 / 7076156
blastocyst2 / 6231932
fetus39 / 56401269
neonate0 / 310970 
infant1 / 2362042
juvenile7 / 55556125
adult68 / 193912135
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma4 / 17475228
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor8 / 13630258
kidney tumor0 / 689590 
leukemia6 / 9584262
liver tumor5 / 9635951
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal159 / 336030747
ovarian tumor2 / 7668226
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS15 / 125680119
prostate cancer2 / 10268019
retinoblastoma3 / 4635664
skin tumor6 / 12494948
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites1 / 4001524
bladder4 / 29757134
blood5 / 12347840
bone4 / 7165555
bone marrow3 / 4880161
brain65 / 110098959
cervix4 / 4817183
connective tissue4 / 14925526
ear2 / 16212123
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye7 / 21105433
heart3 / 8962633
intestine7 / 23447229
kidney3 / 21177714
larynx0 / 241450 
liver11 / 20774352
lung9 / 33697426
lymph1 / 4427022
lymph node5 / 9161054
mammary gland3 / 15327119
mouth6 / 6705289
muscle3 / 10771527
nerve0 / 157680 
ovary4 / 10205139
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta8 / 28082528
prostate4 / 18934521
salivary gland1 / 2015549
skin10 / 21057447
spleen0 / 539520 
stomach5 / 9661951
testis33 / 33044299
thymus15 / 81131184
thyroid3 / 4747363
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus12 / 23287851
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_24_P137582
  • 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
Amygdala5.17 ± 0.39
Basal Forebrain5.19 ± 0.16
Basal Part of Pons5.18 ± 0.28
Cerebellar Cortex5.06 ± 0.35
Cerebellar Nuclei5.43 ± 0.63
Claustrum5.5 ± 0.62
Epithalamus5 ± 0.55
Frontal Lobe5.33 ± 0.39
Globus Pallidus5.03 ± 0.45
Hypothalamus5.02 ± 0.63
Insula5.28 ± 0.32
Limbic Lobe5.39 ± 0.37
Mesencephalon5.33 ± 0.46
Myelencephalon5.37 ± 0.44
Occipital Lobe5.31 ± 0.36
Parietal Lobe5.37 ± 0.43
Pontine Tegmentum5.23 ± 0.44
Striatum5.46 ± 0.39
Subthalamus5.16 ± 0.5
Temporal Lobe5.35 ± 0.36
Thalamus5.42 ± 0.33
White Matter4.8 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gfm2CBCerebellum100
100
Gfm2CTXCerebral cortex100
100
Gfm2HIPHippocampal region100
100
Gfm2HPFHippocampal formation100
100
Gfm2HYHypothalamus100
100
Gfm2LSXLateral septal complex100
100
Gfm2MBMidbrain100
100
Gfm2MYMedulla100
100
Gfm2OLFOlfactory bulb100
100
Gfm2PPons100
100
Gfm2PALPallidum100
100
Gfm2RHPRetrohippocampal region100
100
Gfm2sAMYStriatum-like amygdalar nuclei100
100
Gfm2STRStriatum100
100
Gfm2STRdStriatum dorsal region100
100
Gfm2STRvStriatum ventral region100
100
Gfm2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00071976 13 259 271 KPLLEMNDPELLK 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