AutismKB 2.0

Annotation Detail for GFM1


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Basic Information Top
Gene Symbol:GFM1 ( COXPD1,EFG,EFG1,EFGM,EGF1,FLJ12662,FLJ13632,FLJ20773,GFM,hEFG1 )
Gene Full Name: G elongation factor, mitochondrial 1
Band: 3q25.32
Quick LinksEntrez ID:85476; OMIM: 606639; Uniprot ID:EFGM_HUMAN; ENSEMBL ID: ENSG00000168827; HGNC ID: 13780
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
fetus42 / 56401274
neonate5 / 31097160
infant1 / 2362042
juvenile8 / 55556143
adult120 / 193912161
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma9 / 82823108
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor10 / 11936983
germ cell tumor21 / 26384579
glioma3 / 10688328
head and neck tumor26 / 136302190
kidney tumor5 / 6895972
leukemia5 / 9584252
liver tumor5 / 9635951
lung tumor2 / 10312719
lymphoma5 / 7175569
non-neoplasia7 / 9725071
normal305 / 336030790
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor12 / 12494996
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites6 / 40015149
bladder5 / 29757168
blood12 / 12347897
bone7 / 7165597
bone marrow7 / 48801143
brain159 / 1100989144
cervix4 / 4817183
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue9 / 21572241
esophagus2 / 2020998
eye6 / 21105428
heart5 / 8962655
intestine8 / 23447234
kidney34 / 211777160
larynx2 / 2414582
liver11 / 20774352
lung18 / 33697453
lymph0 / 442700 
lymph node11 / 91610120
mammary gland6 / 15327139
mouth25 / 67052372
muscle5 / 10771546
nerve3 / 15768190
ovary2 / 10205119
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta21 / 28082574
prostate8 / 18934542
salivary gland1 / 2015549
skin19 / 21057490
spleen3 / 5395255
stomach5 / 9661951
testis70 / 330442211
thymus7 / 8113186
thyroid1 / 4747321
tonsil0 / 169990 
trachea22 / 52413419
umbilical cord0 / 136800 
uterus19 / 23287881
vascular5 / 5178096
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6200_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
Amygdala7.43 ± 0.37
Basal Forebrain7.62 ± 0.08
Basal Part of Pons7.75 ± 0.14
Cerebellar Cortex7.91 ± 0.13
Cerebellar Nuclei8.03 ± 0.24
Claustrum7.76 ± 0.38
Epithalamus7.45 ± 0.39
Frontal Lobe7.67 ± 0.27
Globus Pallidus7.56 ± 0.21
Hypothalamus7.76 ± 0.09
Insula7.56 ± 0.2
Limbic Lobe7.63 ± 0.24
Mesencephalon7.72 ± 0.36
Myelencephalon7.64 ± 0.28
Occipital Lobe7.83 ± 0.18
Parietal Lobe7.76 ± 0.23
Pontine Tegmentum7.7 ± 0.29
Striatum7.24 ± 0.21
Subthalamus7.65 ± 0.42
Temporal Lobe7.65 ± 0.25
Thalamus7.8 ± 0.22
White Matter7.76 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gfm1CBCerebellum16.69
28.37
Gfm1CTXCerebral cortex42.05
34.31
Gfm1HIPHippocampal region29.88
45.62
Gfm1HPFHippocampal formation30.94
36.91
Gfm1HYHypothalamus13.49
11.54
Gfm1LSXLateral septal complex2.79
1.9
Gfm1MBMidbrain24.01
25.4
Gfm1MYMedulla22.33
33.51
Gfm1OLFOlfactory bulb21.58
17.09
Gfm1PPons26.24
35.89
Gfm1PALPallidum27.18
28.38
Gfm1RHPRetrohippocampal region33.2
27.54
Gfm1sAMYStriatum-like amygdalar nuclei26.08
21.74
Gfm1STRStriatum14.7
11.43
Gfm1STRdStriatum dorsal region11.82
9.24
Gfm1STRvStriatum ventral region23.1
16.1
Gfm1THThalamus40.82
39.24
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00005816 12 48 59 NIGISAHIDSGK 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