AutismKB 2.0

Annotation Detail for EFR3B


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EFR3B ( KIAA0953 )
Gene Full Name: EFR3 homolog B (S. cerevisiae)
Band: 2p23.3
Quick LinksEntrez ID:22979; OMIM: NA; Uniprot ID:EFR3B_HUMAN; ENSEMBL ID: ENSG00000084710; HGNC ID: 29155
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 body1 / 7076114
blastocyst2 / 6231932
fetus10 / 56401217
neonate0 / 310970 
infant2 / 2362084
juvenile1 / 5555617
adult35 / 193912118
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor7 / 26384526
glioma8 / 10688374
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal55 / 336030716
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain31 / 110098928
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye5 / 21105423
heart4 / 8962644
intestine3 / 23447212
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas9 / 21481241
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: Primary tumors (U95A)
  • Affymatrix Probe ID: 32938_at
Cell line Expression level Expression bar
Pr1T5.872
Pr4T7.375
Pr5T6.383
Pr7T7.27
Pr1N7.167
Pr5N7.074
Pr6T8.578
Pr3N7.175
Pr3T7.456
Pr4N7.228
Pr2N6.677
Pr8N6.793
Pr8T7.817
Pr9N7.228
Pr10N7.324
Pr10T7.517
Pr9T6.464
Pr11T6.783
Pr12T6.884
Pr13AT7.709
Pr13BT7.162
Pr21T6.985
Pr22T7.145
Pr30T8.633
Pr23T8.217
Pr19T7.746
Pr26T7.561
Pr31T7.275
Pr16T7.764
Pr17T7.676
Pr24T6.95
Pr27T6.547
Pr29T5.755
OVR1026.986
HUOVR7.004
G28.524
G37.956
G57.423
G67.775
G86.839
G97.451
CO7T8.511
CO8T7.027
CO15T9.472
CO27T8.13
CO30T8.648
CO32T7.761
CO40T7.632
CO52N9.903
CO62N8.729
K17.27
K27.249
K36.255
K47.529
K14N9.604
K167.667
K179.238
K197.669
K207.622
K227.38
CO9T7.604
CO20T9.2
CO24T8.774
CO36N9.569
K187.126
P1N6.728
P2N8.071
P5N8.498
P87.078
P115.648
P177.796
K218.238
K25N8.655
K28N9.937
CO42T8.135
P225.998
P13N7.094
LU11T7.545
LU16T8.442
LU7T7.446
LU8T7.319
LU12T7.762
LU13T8.284
LU5T8.494
LU6T9.776
LU14T7.853
LU17T8.092
LU50N6.813
LU52N8.002
LU18T8.337
LU55N8.592
LU3N8.992
P16B10.003
P237.131
OVR166.802
OVR196.67
OVR277.187
OVR287.02
OVR278E7.842
OVR27.138
OVR57.026
OVR87.902
OVR117.743
OVR127.696
OVR137.309
OVR228.153
OVR268.366
OVR108.835
OVR278S8.695
OVR17.436
LU19T7.189
LU20T7.551
LU24T7.851
LU25T7.781
LU31T9.709
LU34T8.806
LU39T6.595
CO14T8.26
CO21T9.258
CO23T8.552
CO41N7.45
LU40T9.715
LU41T7.176
LU44T7.872
LU46T7.82
LU49T7.692
L5N8.316
LU42T7.904
LU30T8.253
LU43T10.769
CO5T8.67
CO44T7.225
CO49T8.012
CO51T8.345
CO56T7.538
CO61T7.515
LU26T8.543
LU33T9.704
LU36T7.518
CO43T8.506
G188.408
G467.163
L11T9.434
L13N8.633
L30T8.772
L31T9.418
L32T9.346
L34T9.573
L35T9.875
B1N9.327
B5N7.651
B8T7.843
B10T7.719
B14T9.217
B16T7.745
B17T7.98
B1NR8.77
B20T10.536
B51NR9.338
B6T10.864
B15T12.155
B21T14.093
B29T8.022
B31T9.435
B32T10.153
B24T7.682
B46T7.737
B34T8.152
B36T7.976
B37T8.666
B38T8.024
B39T7.139
X1027.853
X116_027.894
G2806.67
X466.922
X586.974
G1868.297
G2967.775
L38T7.801
L31T.27.515
L26N8.836
N257ANTR8.093
N285BODY7.219
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P83049
  • 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
Amygdala11.72 ± 0.4
Basal Forebrain11.34 ± 0.23
Basal Part of Pons12.4 ± 0.18
Cerebellar Cortex11.61 ± 0.1
Cerebellar Nuclei11.95 ± 0.44
Claustrum11.04 ± 0.3
Epithalamus11.19 ± 0.41
Frontal Lobe11.85 ± 0.36
Globus Pallidus11.36 ± 0.24
Hypothalamus11.5 ± 0.34
Insula11.99 ± 0.19
Limbic Lobe12.08 ± 0.33
Mesencephalon11.75 ± 0.3
Myelencephalon11.78 ± 0.51
Occipital Lobe11.32 ± 0.47
Parietal Lobe11.74 ± 0.37
Pontine Tegmentum11.73 ± 0.38
Striatum12.81 ± 0.26
Subthalamus12.14 ± 0.14
Temporal Lobe11.96 ± 0.33
Thalamus11.69 ± 0.26
White Matter10.42 ± 0.1
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00508441 13 125 137 FANIEEDTPSYHR 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