AutismKB 2.0

Annotation Detail for TUFM


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Basic Information Top
Gene Symbol:TUFM ( COXPD4,EF-TuMT,EFTU,P43 )
Gene Full Name: Tu translation elongation factor, mitochondrial
Band: 16p11.2
Quick LinksEntrez ID:7284; OMIM: 602389; Uniprot ID:EFTU_HUMAN; ENSEMBL ID: ENSG00000178952; HGNC ID: 12420
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 body7 / 7076198
blastocyst15 / 62319240
fetus33 / 56401258
neonate0 / 310970 
infant4 / 23620169
juvenile3 / 5555653
adult284 / 1939121146
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor23 / 94178244
cervical tumor7 / 34366203
chondrosarcoma21 / 82823253
colorectal tumor24 / 114246210
esophageal tumor1 / 1729057
gastrointestinal tumor44 / 119369368
germ cell tumor48 / 263845181
glioma23 / 106883215
head and neck tumor13 / 13630295
kidney tumor13 / 68959188
leukemia18 / 95842187
liver tumor37 / 96359383
lung tumor62 / 103127601
lymphoma27 / 71755376
non-neoplasia9 / 9725092
normal340 / 3360307101
ovarian tumor32 / 76682417
pancreatic tumor43 / 104616411
primitive neuroectodermal tumor of the CNS36 / 125680286
prostate cancer33 / 102680321
retinoblastoma13 / 46356280
skin tumor77 / 124949616
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor18 / 90257199
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland5 / 33197150
ascites27 / 40015674
bladder3 / 29757100
blood25 / 123478202
bone17 / 71655237
bone marrow5 / 48801102
brain133 / 1100989120
cervix9 / 48171186
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue28 / 215722129
esophagus1 / 2020949
eye43 / 211054203
heart12 / 89626133
intestine46 / 234472196
kidney25 / 211777118
larynx1 / 2414541
liver50 / 207743240
lung107 / 336974317
lymph26 / 44270587
lymph node18 / 91610196
mammary gland27 / 153271176
mouth3 / 6705244
muscle16 / 107715148
nerve0 / 157680 
ovary36 / 102051352
pancreas56 / 214812260
parathyroid4 / 20539194
pharynx3 / 4132872
pituitary gland3 / 16585180
placenta55 / 280825195
prostate44 / 189345232
salivary gland1 / 2015549
skin83 / 210574394
spleen2 / 5395237
stomach10 / 96619103
testis40 / 330442121
thymus1 / 8113112
thyroid12 / 47473252
tonsil4 / 16999235
trachea0 / 524130 
umbilical cord0 / 136800 
uterus28 / 232878120
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201113_at
Cell line Expression level Expression bar
721_B_lymphoblasts1552.3
Adipocyte343.7
AdrenalCortex167.9
Adrenalgland362.65
Amygdala260
Appendix44.05
AtrioventricularNode33.2
BDCA4+_DentriticCells541.3
Bonemarrow145.5
BronchialEpithelialCells513.4
CD105+_Endothelial687.55
CD14+_Monocytes565.75
CD19+_BCells(neg._sel.)526.55
CD33+_Myeloid628.05
CD34+1135.05
CD4+_Tcells340.8
CD56+_NKCells469.3
CD71+_EarlyErythroid159.85
CD8+_Tcells270.45
CardiacMyocytes200.15
Caudatenucleus192.5
Cerebellum215.45
CerebellumPeduncles229.6
CiliaryGanglion49.2
CingulateCortex182.6
Colorectaladenocarcinoma680
DorsalRootGanglion88.4
FetalThyroid344.4
Fetalbrain281.6
Fetalliver163.55
Fetallung301.25
GlobusPallidus95.35
Heart1184.35
Hypothalamus301.05
Kidney461.75
Leukemia_chronicMyelogenousK-562704
Leukemia_promyelocytic-HL-601071.95
Leukemialymphoblastic(MOLT-4)489.75
Liver969.5
Lung679.95
Lymphnode187
Lymphoma_burkitts(Daudi)1301.35
Lymphoma_burkitts(Raji)1090.95
MedullaOblongata115.05
OccipitalLobe154.1
OlfactoryBulb149.5
Ovary101.2
Pancreas153.6
PancreaticIslet339.65
ParietalLobe124
Pituitary244
Placenta227.4
Pons84.45
PrefrontalCortex289
Prostate387.95
Salivarygland177.75
SkeletalMuscle146.75
Skin86.7
SmoothMuscle304.3
Spinalcord304.1
SubthalamicNucleus153.05
SuperiorCervicalGanglion5.7
TemporalLobe137.5
Testis689.55
TestisGermCell373.8
TestisIntersitial317.85
TestisLeydigCell297.05
TestisSeminiferousTubule246.3
Thalamus365.9
Thymus443.45
Thyroid638.25
Tongue247.9
Tonsil226.35
Trachea159.15
TrigeminalGanglion11.4
Uterus230.3
UterusCorpus82.7
WholeBlood287.85
Wholebrain467.15
colon257.75
pineal_day487.74
pineal_night462.92
retina278.675
small_intestine232.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12260_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
Amygdala6.8 ± 0.67
Basal Forebrain7.23 ± 0.17
Basal Part of Pons7.5 ± 0.41
Cerebellar Cortex7.37 ± 0.49
Cerebellar Nuclei7.3 ± 0.48
Claustrum6.48 ± 0.49
Epithalamus7.48 ± 0.44
Frontal Lobe7.42 ± 0.44
Globus Pallidus7.26 ± 0.34
Hypothalamus7.3 ± 0.35
Insula7.41 ± 0.3
Limbic Lobe7.02 ± 0.5
Mesencephalon7.28 ± 0.38
Myelencephalon7.22 ± 0.48
Occipital Lobe6.74 ± 0.5
Parietal Lobe7.16 ± 0.47
Pontine Tegmentum7.13 ± 0.47
Striatum6.97 ± 0.38
Subthalamus7.08 ± 0.59
Temporal Lobe7.33 ± 0.46
Thalamus7.35 ± 0.45
White Matter7.21 ± 0.55
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
TufmCBCerebellum30.03
54.87
TufmCTXCerebral cortex62.2
55.18
TufmHIPHippocampal region39.64
54.76
TufmHPFHippocampal formation49.06
56.07
TufmHYHypothalamus29.32
26.56
TufmLSXLateral septal complex17.56
13.18
TufmMBMidbrain43.98
48.07
TufmMYMedulla43.31
60.56
TufmOLFOlfactory bulb56.4
51.43
TufmPPons42.62
58.42
TufmPALPallidum32.26
34.55
TufmRHPRetrohippocampal region64.32
58.43
TufmsAMYStriatum-like amygdalar nuclei25.31
21.57
TufmSTRStriatum22.32
18.24
TufmSTRdStriatum dorsal region19.6
16.23
TufmSTRvStriatum ventral region30.35
23.26
TufmTHThalamus58.35
62
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EFTU_HUMAN_0 0 0 0 DLEKPFLLPVEAVYSVPGR PRIDE
EFTU_HUMAN_0 1 0 0 HYAHTDC*PGHADYVK PRIDE
EFTU_HUMAN_104 16 104 119 GITINAAHVEYSTAAR PRIDE
EFTU_HUMAN_135 27 135 161 NMITGTAPLDGCILVVAANDGPMPQTR PRIDE
EFTU_HUMAN_163 7 163 169 EHLLLAR PRIDE
EFTU_HUMAN_169 13 169 181 QIGVEHVVVYVNK PRIDE
EFTU_HUMAN_183 18 183 200 ADAVQDSEMVELVELEIR PRIDE
EFTU_HUMAN_200 34 200 233 ELLTEFGYKGEETPVIVGSALCALEGRDPELGLK PRIDE
EFTU_HUMAN_238 14 238 251 LLDAVDTYIPVPAR PRIDE
EFTU_HUMAN_238 33 238 270 LLDAVDTYIPVPARDLEKPFLLPVEAVYSVPGR PRIDE
EFTU_HUMAN_252 19 252 270 DLEKPFLLPVEAVYSVPGR PRIDE
EFTU_HUMAN_253 19 253 271 DLEKPFLLPVEAVYSVPGR PRIDE
EFTU_HUMAN_271 10 271 280 GTVVTGTLER PRIDE
EFTU_HUMAN_300 11 300 310 TVVTGIEMFHK PRIDE
EFTU_HUMAN_301 11 301 311 TVVTGIEMFHK PRIDE
EFTU_HUMAN_311 16 311 326 SLERAEAGDNLGALVR PRIDE
EFTU_HUMAN_315 12 315 326 AEAGDNLGALVR PRIDE
EFTU_HUMAN_351 10 351 360 VEAQVYILSK PRIDE
EFTU_HUMAN_351 15 351 365 VEAQVYILSKEEGGR PRIDE
EFTU_HUMAN_388 17 388 404 IILPPEKELAMPGEDLK PRIDE
EFTU_HUMAN_412 10 412 421 QPMILEKGQR PRIDE
EFTU_HUMAN_429 18 429 446 TIGTGLVTNTLAMTEEEK PRIDE
EFTU_HUMAN_43 11 43 53 LAVEAKKTYVR PRIDE
EFTU_HUMAN_430 18 430 447 TIGTGLVTNTLAMTEEEK PRIDE
EFTU_HUMAN_44 10 44 53 AVEAKKTYVR PRIDE
EFTU_HUMAN_90 12 90 101 KYEEIDNAPEER PRIDE
EFTU_HUMAN_91 11 91 101 YEEIDNAPEER PRIDE
PAp00002146 34 204 237 ELLTEFGYKGEETPVIVGSALCALEGRDPELGLK 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


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