AutismKB 2.0

Annotation Detail for TIMM8B


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Basic Information Top
Gene Symbol:TIMM8B ( DDP2,FLJ21744,MGC102866,MGC117373,TIM8B )
Gene Full Name: translocase of inner mitochondrial membrane 8 homolog B (yeast)
Band: 11q23.1
Quick LinksEntrez ID:26521; OMIM: 606659; Uniprot ID:TIM8B_HUMAN; ENSEMBL ID: ENSG00000150779; HGNC ID: 11818
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 
blastocyst1 / 6231916
fetus29 / 56401251
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult54 / 193912127
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) tumor0 / 941780 
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor7 / 26384526
glioma1 / 1068839
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia4 / 9584241
liver tumor2 / 9635920
lung tumor8 / 10312777
lymphoma3 / 7175541
non-neoplasia1 / 9725010
normal114 / 336030733
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer8 / 10268077
retinoblastoma5 / 46356107
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood9 / 12347872
bone1 / 7165513
bone marrow0 / 488010 
brain17 / 110098915
cervix2 / 4817141
connective tissue0 / 1492550 
ear2 / 16212123
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye10 / 21105447
heart7 / 8962678
intestine16 / 23447268
kidney8 / 21177737
larynx0 / 241450 
liver3 / 20774314
lung17 / 33697450
lymph3 / 4427067
lymph node3 / 9161032
mammary gland6 / 15327139
mouth1 / 6705214
muscle8 / 10771574
nerve1 / 1576863
ovary3 / 10205129
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta11 / 28082539
prostate10 / 18934552
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach2 / 9661920
testis9 / 33044227
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218357_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1301.15
Adipocyte743.6
AdrenalCortex457
Adrenalgland681.35
Amygdala454.7
Appendix345.6
AtrioventricularNode115.65
BDCA4+_DentriticCells966.85
Bonemarrow370.55
BronchialEpithelialCells921.1
CD105+_Endothelial1829.2
CD14+_Monocytes1186.95
CD19+_BCells(neg._sel.)649.65
CD33+_Myeloid1047.35
CD34+1528.1
CD4+_Tcells486.55
CD56+_NKCells799.3
CD71+_EarlyErythroid754.8
CD8+_Tcells326.5
CardiacMyocytes626.1
Caudatenucleus270.75
Cerebellum272.95
CerebellumPeduncles348.3
CiliaryGanglion115.95
CingulateCortex375.95
Colorectaladenocarcinoma444.9
DorsalRootGanglion174.5
FetalThyroid659.1
Fetalbrain326.15
Fetalliver518.8
Fetallung487.15
GlobusPallidus216.5
Heart4779.2
Hypothalamus506.7
Kidney461.25
Leukemia_chronicMyelogenousK-562503.4
Leukemia_promyelocytic-HL-60871.35
Leukemialymphoblastic(MOLT-4)603.1
Liver2175.35
Lung754.15
Lymphnode333.8
Lymphoma_burkitts(Daudi)558.2
Lymphoma_burkitts(Raji)451.8
MedullaOblongata299.3
OccipitalLobe321.5
OlfactoryBulb338.85
Ovary193.15
Pancreas272.6
PancreaticIslet419.75
ParietalLobe285.1
Pituitary473.65
Placenta346.35
Pons207.4
PrefrontalCortex436.9
Prostate690.75
Salivarygland267.6
SkeletalMuscle681.8
Skin219.85
SmoothMuscle707
Spinalcord449.25
SubthalamicNucleus274.05
SuperiorCervicalGanglion177.45
TemporalLobe343.45
Testis701.75
TestisGermCell861.6
TestisIntersitial445.7
TestisLeydigCell489.9
TestisSeminiferousTubule432.05
Thalamus464.9
Thymus599.35
Thyroid510.65
Tongue606.15
Tonsil548.5
Trachea229.95
TrigeminalGanglion198.5
Uterus309.1
UterusCorpus463.95
WholeBlood552.95
Wholebrain667.65
colon465.6
pineal_day656.02
pineal_night616.98
retina473.425
small_intestine420.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4658_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
Amygdala8.91 ± 0.42
Basal Forebrain8.97 ± 0.21
Basal Part of Pons9.08 ± 0.38
Cerebellar Cortex8.81 ± 0.33
Cerebellar Nuclei9.42 ± 0.26
Claustrum8.57 ± 0.66
Epithalamus8.91 ± 0.4
Frontal Lobe9.2 ± 0.42
Globus Pallidus9.46 ± 0.39
Hypothalamus9.2 ± 0.49
Insula9.22 ± 0.3
Limbic Lobe8.93 ± 0.54
Mesencephalon9.08 ± 0.51
Myelencephalon9 ± 0.49
Occipital Lobe8.46 ± 0.35
Parietal Lobe8.92 ± 0.41
Pontine Tegmentum9.1 ± 0.45
Striatum9.06 ± 0.31
Subthalamus9.16 ± 0.3
Temporal Lobe9.18 ± 0.46
Thalamus9.02 ± 0.3
White Matter9.07 ± 0.08
Mouse Brain ISH
Peptide Top

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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