AutismKB 2.0

Annotation Detail for EFTUD2


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Basic Information Top
Gene Symbol:EFTUD2 ( DKFZp686E24196,FLJ44695,KIAA0031,Snrp116,Snu114,U5-116KD )
Gene Full Name: elongation factor Tu GTP binding domain containing 2
Band: 17q21.31
Quick LinksEntrez ID:9343; OMIM: 603892; Uniprot ID:U5S1_HUMAN; ENSEMBL ID: ENSG00000108883; HGNC ID: 30858
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 body16 / 70761226
blastocyst21 / 62319336
fetus136 / 564012241
neonate8 / 31097257
infant3 / 23620127
juvenile19 / 55556341
adult252 / 1939121129
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor12 / 94178127
cervical tumor16 / 34366465
chondrosarcoma10 / 82823120
colorectal tumor19 / 114246166
esophageal tumor2 / 17290115
gastrointestinal tumor37 / 119369309
germ cell tumor92 / 263845348
glioma9 / 10688384
head and neck tumor58 / 136302425
kidney tumor28 / 68959406
leukemia22 / 95842229
liver tumor18 / 96359186
lung tumor49 / 103127475
lymphoma25 / 71755348
non-neoplasia17 / 97250174
normal527 / 3360307156
ovarian tumor19 / 76682247
pancreatic tumor15 / 104616143
primitive neuroectodermal tumor of the CNS37 / 125680294
prostate cancer21 / 102680204
retinoblastoma16 / 46356345
skin tumor47 / 124949376
soft tissue/muscle tissue tumor22 / 125191175
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland7 / 33197210
ascites17 / 40015424
bladder2 / 2975767
blood28 / 123478226
bone7 / 7165597
bone marrow2 / 4880140
brain265 / 1100989240
cervix16 / 48171332
connective tissue23 / 149255154
ear0 / 162120 
embryonic tissue51 / 215722236
esophagus2 / 2020998
eye35 / 211054165
heart11 / 89626122
intestine35 / 234472149
kidney46 / 211777217
larynx6 / 24145248
liver22 / 207743105
lung97 / 336974287
lymph21 / 44270474
lymph node18 / 91610196
mammary gland22 / 153271143
mouth44 / 67052656
muscle10 / 10771592
nerve0 / 157680 
ovary22 / 102051215
pancreas23 / 214812107
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta44 / 280825156
prostate25 / 189345132
salivary gland5 / 20155248
skin62 / 210574294
spleen13 / 53952240
stomach9 / 9661993
testis121 / 330442366
thymus33 / 81131406
thyroid8 / 47473168
tonsil2 / 16999117
trachea23 / 52413438
umbilical cord14 / 136801023
uterus42 / 232878180
vascular6 / 51780115
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P55190
  • 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
Amygdala10.04 ± 0.23
Basal Forebrain9.9 ± 0.18
Basal Part of Pons10.19 ± 0.13
Cerebellar Cortex9.88 ± 0.12
Cerebellar Nuclei10 ± 0.28
Claustrum10.05 ± 0.22
Epithalamus10 ± 0.32
Frontal Lobe10.14 ± 0.22
Globus Pallidus9.67 ± 0.34
Hypothalamus9.96 ± 0.17
Insula10.21 ± 0.2
Limbic Lobe10.19 ± 0.22
Mesencephalon10.06 ± 0.27
Myelencephalon10.04 ± 0.26
Occipital Lobe10.09 ± 0.17
Parietal Lobe10.11 ± 0.26
Pontine Tegmentum10.07 ± 0.3
Striatum9.94 ± 0.36
Subthalamus10.19 ± 0.15
Temporal Lobe10.15 ± 0.24
Thalamus10.11 ± 0.26
White Matter9.47 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Eftud2CBCerebellum57.06
67.1
Eftud2CTXCerebral cortex100
100
Eftud2HIPHippocampal region97.86
100
Eftud2HPFHippocampal formation100
100
Eftud2HYHypothalamus80.48
71.53
Eftud2LSXLateral septal complex100
100
Eftud2MBMidbrain77.34
76.75
Eftud2MYMedulla76.95
91.49
Eftud2OLFOlfactory bulb100
100
Eftud2PPons71.2
82.37
Eftud2PALPallidum72.6
72.41
Eftud2RHPRetrohippocampal region100
100
Eftud2sAMYStriatum-like amygdalar nuclei100
100
Eftud2STRStriatum100
94.19
Eftud2STRdStriatum dorsal region100
89.52
Eftud2STRvStriatum ventral region100
97.3
Eftud2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00004568 19 159 177 KRYDQDLCYTDILFTEQER Peptide Atlas
U5S1_HUMAN_1 28 1 28 MDTDLYDEFGNYIGPELDSDEDDDELGR PRIDE
U5S1_HUMAN_952 12 952 963 FFDDPMLLELAK 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


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