AutismKB 2.0

Annotation Detail for EEF1D


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Basic Information Top
Gene Symbol:EEF1D ( EF-1D,EF1D,FLJ20897,FP1047 )
Gene Full Name: eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)
Band: 8q24.3
Quick LinksEntrez ID:1936; OMIM: 130592; Uniprot ID:EF1D_HUMAN; ENSEMBL ID: ENSG00000104529; HGNC ID: 3211
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 body20 / 70761282
blastocyst24 / 62319385
fetus98 / 564012173
neonate1 / 3109732
infant10 / 23620423
juvenile6 / 55556107
adult633 / 1939121326
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult15 / 19391217
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma3 / 17475171
breast (mammary gland) tumor101 / 941781072
cervical tumor14 / 34366407
chondrosarcoma15 / 82823181
colorectal tumor43 / 114246376
esophageal tumor3 / 17290173
gastrointestinal tumor68 / 119369569
germ cell tumor147 / 263845557
glioma141 / 1068831319
head and neck tumor41 / 136302300
kidney tumor48 / 68959696
leukemia24 / 95842250
liver tumor28 / 96359290
lung tumor101 / 103127979
lymphoma82 / 717551142
non-neoplasia20 / 97250205
normal749 / 3360307222
ovarian tumor56 / 76682730
pancreatic tumor97 / 104616927
primitive neuroectodermal tumor of the CNS91 / 125680724
prostate cancer69 / 102680671
retinoblastoma25 / 46356539
skin tumor143 / 1249491144
soft tissue/muscle tissue tumor72 / 125191575
uterine tumor32 / 90257354
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal6 / 33603071
ovarian tumor4 / 7668252
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue5 / 13106381
adrenal gland9 / 33197271
ascites17 / 40015424
bladder4 / 29757134
blood39 / 123478315
bone17 / 71655237
bone marrow39 / 48801799
brain366 / 1100989332
cervix14 / 48171290
connective tissue26 / 149255174
ear3 / 16212185
embryonic tissue61 / 215722282
esophagus3 / 20209148
eye100 / 211054473
heart18 / 89626200
intestine77 / 234472328
kidney61 / 211777288
larynx4 / 24145165
liver45 / 207743216
lung150 / 336974445
lymph77 / 442701739
lymph node21 / 91610229
mammary gland111 / 153271724
mouth10 / 67052149
muscle49 / 107715454
nerve3 / 15768190
ovary74 / 102051725
pancreas125 / 214812581
parathyroid1 / 2053948
pharynx5 / 41328120
pituitary gland1 / 1658560
placenta104 / 280825370
prostate91 / 189345480
salivary gland23 / 201551141
skin150 / 210574712
spleen23 / 53952426
stomach70 / 96619724
testis51 / 330442154
thymus16 / 81131197
thyroid6 / 47473126
tonsil40 / 169992353
trachea3 / 5241357
umbilical cord1 / 1368073
uterus88 / 232878377
vascular4 / 5178077
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary4 / 10205139
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214394_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts2457.8
Adipocyte1190.4
AdrenalCortex2373.7
Adrenalgland1488.25
Amygdala800.4
Appendix2072.25
AtrioventricularNode452.5
BDCA4+_DentriticCells3904.85
Bonemarrow1525.55
BronchialEpithelialCells2528.3
CD105+_Endothelial3203.3
CD14+_Monocytes3407.55
CD19+_BCells(neg._sel.)4611.8
CD33+_Myeloid3450.9
CD34+3790
CD4+_Tcells4997.55
CD56+_NKCells5405.25
CD71+_EarlyErythroid1607.8
CD8+_Tcells4805.25
CardiacMyocytes1487.85
Caudatenucleus755.95
Cerebellum632.05
CerebellumPeduncles719.55
CiliaryGanglion652.75
CingulateCortex575.2
Colorectaladenocarcinoma2387.6
DorsalRootGanglion469.05
FetalThyroid2950.75
Fetalbrain818.9
Fetalliver726.6
Fetallung1929.75
GlobusPallidus206.75
Heart3684.65
Hypothalamus1568.15
Kidney834.45
Leukemia_chronicMyelogenousK-5621538.85
Leukemia_promyelocytic-HL-601517.05
Leukemialymphoblastic(MOLT-4)2067.55
Liver4203.1
Lung4215.65
Lymphnode2897.8
Lymphoma_burkitts(Daudi)2999.5
Lymphoma_burkitts(Raji)4445.1
MedullaOblongata615.2
OccipitalLobe511.5
OlfactoryBulb1531.8
Ovary1704.4
Pancreas2774.4
PancreaticIslet3656
ParietalLobe397.65
Pituitary1231.05
Placenta1209.45
Pons407.45
PrefrontalCortex1518.4
Prostate4740.2
Salivarygland2139.35
SkeletalMuscle1396.9
Skin1131.9
SmoothMuscle2200
Spinalcord1363.95
SubthalamicNucleus473.75
SuperiorCervicalGanglion593.35
TemporalLobe499.35
Testis1515.85
TestisGermCell1322.65
TestisIntersitial1137.6
TestisLeydigCell1050.6
TestisSeminiferousTubule1294.75
Thalamus685.4
Thymus2907.1
Thyroid4379.35
Tongue1999.35
Tonsil1943.4
Trachea1570.4
TrigeminalGanglion902.4
Uterus2696.05
UterusCorpus2177.55
WholeBlood2612.95
Wholebrain994.25
colon1724.8
pineal_day1177.34
pineal_night1115.54
retina2547.55
small_intestine1667.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P307002
  • 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
Amygdala11.45 ± 0.21
Basal Forebrain12.06 ± 0.23
Basal Part of Pons11.82 ± 0.16
Cerebellar Cortex11.86 ± 0.16
Cerebellar Nuclei12.07 ± 0.22
Claustrum11.59 ± 0.31
Epithalamus11.97 ± 0.24
Frontal Lobe11.59 ± 0.3
Globus Pallidus12.51 ± 0.23
Hypothalamus11.66 ± 0.4
Insula11.6 ± 0.26
Limbic Lobe11.45 ± 0.28
Mesencephalon11.73 ± 0.35
Myelencephalon11.71 ± 0.29
Occipital Lobe11.63 ± 0.22
Parietal Lobe11.65 ± 0.32
Pontine Tegmentum11.6 ± 0.38
Striatum11.82 ± 0.4
Subthalamus11.97 ± 0.35
Temporal Lobe11.59 ± 0.24
Thalamus11.73 ± 0.22
White Matter12.78 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Eef1dCBCerebellum1.77
2.21
Eef1dCTXCerebral cortex0.87
1.19
Eef1dHIPHippocampal region0.71
0.89
Eef1dHPFHippocampal formation0.66
0.86
Eef1dHYHypothalamus0.09
0.25
Eef1dLSXLateral septal complex0.06
0.04
Eef1dMBMidbrain0.23
0.44
Eef1dMYMedulla0.58
0.62
Eef1dOLFOlfactory bulb3.24
3.01
Eef1dPPons1.57
2.14
Eef1dPALPallidum0.08
0.36
Eef1dRHPRetrohippocampal region0.57
0.87
Eef1dsAMYStriatum-like amygdalar nuclei0.11
0.12
Eef1dSTRStriatum0.2
0.25
Eef1dSTRdStriatum dorsal region0.2
0.25
Eef1dSTRvStriatum ventral region0.34
0.44
Eef1dTHThalamus0.75
0.96
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EF1D_HUMAN_0 0 0 0 GVVQELQQAISK PRIDE
EF1D_HUMAN_0 0 0 0 IASLEVENQSLR PRIDE
EF1D_HUMAN_112 12 112 123 LNVLEKSSPGHR PRIDE
EF1D_HUMAN_123 13 123 135 ATAPQTQHVSPMR PRIDE
EF1D_HUMAN_137 39 137 175 QVEPPAKKPATPAEDDEDDDIDLFGSDNEEEDKEAAQLR PRIDE
EF1D_HUMAN_195 24 195 218 SSILLDVKPWDDETDMAQLEACVR PRIDE
EF1D_HUMAN_2 7 2 8 ATNFLAH PRIDE
EF1D_HUMAN_219 13 219 231 SIQLDGLVWGASK PRIDE
EF1D_HUMAN_23 15 23 37 RFYEQMNGPVAGASR PRIDE
EF1D_HUMAN_24 14 24 37 FYEQMNGPVAGASR PRIDE
EF1D_HUMAN_38 10 38 47 QENGASVILR PRIDE
EF1D_HUMAN_39 10 39 48 QENGASVILR PRIDE
EF1D_HUMAN_59 24 59 82 SLAGSSGPGASSGTSGDHGELVVR PRIDE
EF1D_HUMAN_83 12 83 94 IASLEVENQSLR PRIDE
EF1D_HUMAN_83 28 83 110 IASLEVENQSLRGVVQELQQAISKLEAR PRIDE
EF1D_HUMAN_95 12 95 106 GVVQELQQAISK PRIDE
EF1D_HUMAN_95 16 95 110 GVVQELQQAISKLEAR PRIDE
EF1D_HUMAN_96 16 96 111 GVVQELQQAISKLEAR PRIDE
PAp00004463 12 242 253 KLQIQCVVEDDK 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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