AutismKB 2.0

Annotation Detail for ETFB


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Basic Information Top
Gene Symbol:ETFB ( MADD )
Gene Full Name: electron-transfer-flavoprotein, beta polypeptide
Band: 19q13.41
Quick LinksEntrez ID:2109; OMIM: 130410; Uniprot ID:ETFB_HUMAN; ENSEMBL ID: ENSG00000105379; HGNC ID: 3482
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 body0 / 707610 
blastocyst0 / 623190 
fetus11 / 56401219
neonate1 / 3109732
infant1 / 2362042
juvenile1 / 5555617
adult148 / 193912176
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor9 / 9417895
cervical tumor5 / 34366145
chondrosarcoma13 / 82823156
colorectal tumor18 / 114246157
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor5 / 26384518
glioma11 / 106883102
head and neck tumor0 / 1363020 
kidney tumor2 / 6895929
leukemia5 / 9584252
liver tumor11 / 96359114
lung tumor10 / 10312796
lymphoma3 / 7175541
non-neoplasia5 / 9725051
normal146 / 336030743
ovarian tumor3 / 7668239
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer16 / 102680155
retinoblastoma3 / 4635664
skin tumor29 / 124949232
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites3 / 4001574
bladder2 / 2975767
blood4 / 12347832
bone9 / 71655125
bone marrow3 / 4880161
brain46 / 110098941
cervix5 / 48171103
connective tissue9 / 14925560
ear1 / 1621261
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye32 / 211054151
heart2 / 8962622
intestine24 / 234472102
kidney5 / 21177723
larynx0 / 241450 
liver25 / 207743120
lung18 / 33697453
lymph3 / 4427067
lymph node4 / 9161043
mammary gland15 / 15327197
mouth0 / 670520 
muscle17 / 107715157
nerve0 / 157680 
ovary4 / 10205139
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta10 / 28082535
prostate17 / 18934589
salivary gland0 / 201550 
skin30 / 210574142
spleen1 / 5395218
stomach7 / 9661972
testis1 / 3304423
thymus2 / 8113124
thyroid1 / 4747321
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord1 / 1368073
uterus13 / 23287855
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202942_at
Cell line Expression level Expression bar
721_B_lymphoblasts501
Adipocyte191.6
AdrenalCortex112.25
Adrenalgland186
Amygdala107.9
Appendix57.95
AtrioventricularNode48.25
BDCA4+_DentriticCells251.95
Bonemarrow82.15
BronchialEpithelialCells147.1
CD105+_Endothelial596.5
CD14+_Monocytes318.75
CD19+_BCells(neg._sel.)452.05
CD33+_Myeloid201.35
CD34+463.45
CD4+_Tcells151.55
CD56+_NKCells118.05
CD71+_EarlyErythroid155.2
CD8+_Tcells137.6
CardiacMyocytes211.1
Caudatenucleus152.55
Cerebellum81
CerebellumPeduncles149.15
CiliaryGanglion34.25
CingulateCortex184.9
Colorectaladenocarcinoma733.15
DorsalRootGanglion49.4
FetalThyroid122.95
Fetalbrain87.8
Fetalliver259.35
Fetallung108.4
GlobusPallidus74.35
Heart1181.25
Hypothalamus259.35
Kidney326.8
Leukemia_chronicMyelogenousK-562168.7
Leukemia_promyelocytic-HL-60180.8
Leukemialymphoblastic(MOLT-4)84.55
Liver2497.2
Lung231.9
Lymphnode75.35
Lymphoma_burkitts(Daudi)151.1
Lymphoma_burkitts(Raji)401.7
MedullaOblongata109.05
OccipitalLobe117.25
OlfactoryBulb107.65
Ovary59.1
Pancreas115.45
PancreaticIslet140.2
ParietalLobe157.05
Pituitary167.9
Placenta97.05
Pons96.05
PrefrontalCortex151.4
Prostate243.85
Salivarygland76
SkeletalMuscle146.7
Skin60.45
SmoothMuscle161.05
Spinalcord154.1
SubthalamicNucleus100.6
SuperiorCervicalGanglion28.25
TemporalLobe127.6
Testis109.5
TestisGermCell66.2
TestisIntersitial80.45
TestisLeydigCell60.7
TestisSeminiferousTubule76
Thalamus261.45
Thymus277.95
Thyroid253.6
Tongue270.85
Tonsil74.9
Trachea64.25
TrigeminalGanglion46.4
Uterus116.15
UterusCorpus31.6
WholeBlood76.75
Wholebrain307.75
colon221.65
pineal_day257.66
pineal_night234.78
retina188.05
small_intestine335.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13985_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
Amygdala9.9 ± 0.37
Basal Forebrain10.3 ± 0.22
Basal Part of Pons10.62 ± 0.38
Cerebellar Cortex9.78 ± 0.16
Cerebellar Nuclei10.63 ± 0.24
Claustrum9.64 ± 0.62
Epithalamus10.21 ± 0.37
Frontal Lobe10.35 ± 0.37
Globus Pallidus11.23 ± 0.24
Hypothalamus10.53 ± 0.25
Insula10.21 ± 0.37
Limbic Lobe9.9 ± 0.56
Mesencephalon10.16 ± 0.52
Myelencephalon10.21 ± 0.48
Occipital Lobe9.59 ± 0.5
Parietal Lobe10.2 ± 0.45
Pontine Tegmentum10.27 ± 0.38
Striatum10.66 ± 0.33
Subthalamus10.57 ± 0.26
Temporal Lobe10.27 ± 0.39
Thalamus10.48 ± 0.28
White Matter11.57 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
EtfbCBCerebellum32.54
58.85
EtfbCTXCerebral cortex34.78
28.12
EtfbHIPHippocampal region29.86
37.44
EtfbHPFHippocampal formation29.21
31.4
EtfbHYHypothalamus8.61
6.86
EtfbLSXLateral septal complex43.69
33.28
EtfbMBMidbrain27.77
27.34
EtfbMYMedulla33.49
41.63
EtfbOLFOlfactory bulb34.45
29.62
EtfbPPons33.44
40.08
EtfbPALPallidum10.75
9.6
EtfbRHPRetrohippocampal region28.38
23.39
EtfbsAMYStriatum-like amygdalar nuclei9.61
7.23
EtfbSTRStriatum17.88
13.85
EtfbSTRdStriatum dorsal region15.16
12.36
EtfbSTRvStriatum ventral region19.3
13.11
EtfbTHThalamus9.99
9.93
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ETFB_HUMAN_0 0 0 0 EVIAVSCGPAQCQETIR PRIDE
ETFB_HUMAN_0 0 0 0 IEVIKPGDLGVDLTSK PRIDE
ETFB_HUMAN_0 0 0 0 LGPLQVAR PRIDE
ETFB_HUMAN_0 0 0 0 LKLPAVVTADLR PRIDE
ETFB_HUMAN_0 0 0 0 LSVISVEDPPQR PRIDE
ETFB_HUMAN_110 14 110 123 LAEKEKVDLVLLGK PRIDE
ETFB_HUMAN_117 8 117 124 VDLVLLGK PRIDE
ETFB_HUMAN_164 10 164 173 EIDGGLETLR PRIDE
ETFB_HUMAN_165 10 165 174 EIDGGLETLR PRIDE
ETFB_HUMAN_174 12 174 185 LKLPAVVTADLR PRIDE
ETFB_HUMAN_175 12 175 186 LKLPAVVTADLR PRIDE
ETFB_HUMAN_187 14 187 200 LNEPRYATLPNIMK PRIDE
ETFB_HUMAN_204 17 204 220 KIEVIKPGDLGVDLTSK PRIDE
ETFB_HUMAN_205 16 205 220 IEVIKPGDLGVDLTSK PRIDE
ETFB_HUMAN_206 16 206 221 IEVIKPGDLGVDLTSK PRIDE
ETFB_HUMAN_21 14 21 34 VKPDRTGVVTDGVK PRIDE
ETFB_HUMAN_221 12 221 232 LSVISVEDPPQR PRIDE
ETFB_HUMAN_222 12 222 233 LSVISVEDPPQR PRIDE
ETFB_HUMAN_224 10 224 233 VISVEDPPQR PRIDE
ETFB_HUMAN_233 15 233 247 TAGVKVETTEDLVAK PRIDE
ETFB_HUMAN_239 10 239 248 VETTEDLVAK PRIDE
ETFB_HUMAN_35 16 35 50 HSMNPFCEIAVEEAVR PRIDE
ETFB_HUMAN_60 17 60 76 EVIAVSCGPAQCQETIR PRIDE
ETFB_HUMAN_85 13 85 97 GIHVEVPPAEAER PRIDE
ETFB_HUMAN_86 13 86 98 GIHVEVPPAEAER PRIDE
ETFB_HUMAN_98 8 98 105 LGPLQVAR PRIDE
PAp00002278 17 60 76 EVIAVSCGPAQCQETIR 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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