AutismKB 2.0

Annotation Detail for TIMM17B


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Basic Information Top
Gene Symbol:TIMM17B ( DXS9822,TIM17B )
Gene Full Name: translocase of inner mitochondrial membrane 17 homolog B (yeast)
Band: Xp11.23
Quick LinksEntrez ID:10245; OMIM: 300249; Uniprot ID:TI17B_HUMAN; ENSEMBL ID: ENSG00000126768; HGNC ID: 17310
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 body4 / 7076156
blastocyst2 / 6231932
fetus13 / 56401223
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult67 / 193912134
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor8 / 26384530
glioma6 / 10688356
head and neck tumor2 / 13630214
kidney tumor4 / 6895958
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor10 / 10312796
lymphoma4 / 7175555
non-neoplasia0 / 972500 
normal102 / 336030730
ovarian tumor1 / 7668213
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer9 / 10268087
retinoblastoma5 / 46356107
skin tumor1 / 1249498
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 gland1 / 3319730
ascites2 / 4001549
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow1 / 4880120
brain27 / 110098924
cervix2 / 4817141
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye19 / 21105490
heart5 / 8962655
intestine10 / 23447242
kidney7 / 21177733
larynx0 / 241450 
liver0 / 2077430 
lung31 / 33697491
lymph1 / 4427022
lymph node1 / 9161010
mammary gland3 / 15327119
mouth0 / 670520 
muscle4 / 10771537
nerve0 / 157680 
ovary3 / 10205129
pancreas13 / 21481260
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland3 / 16585180
placenta12 / 28082542
prostate12 / 18934563
salivary gland3 / 20155148
skin8 / 21057437
spleen0 / 539520 
stomach3 / 9661931
testis6 / 33044218
thymus2 / 8113124
thyroid1 / 4747321
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203342_at
Cell line Expression level Expression bar
721_B_lymphoblasts178.15
Adipocyte26.95
AdrenalCortex33.65
Adrenalgland32.4
Amygdala25.7
Appendix30.25
AtrioventricularNode24.05
BDCA4+_DentriticCells85.9
Bonemarrow32.9
BronchialEpithelialCells37
CD105+_Endothelial105.6
CD14+_Monocytes242.65
CD19+_BCells(neg._sel.)94.35
CD33+_Myeloid111.2
CD34+78.2
CD4+_Tcells38.15
CD56+_NKCells104.8
CD71+_EarlyErythroid68.15
CD8+_Tcells44.65
CardiacMyocytes26.5
Caudatenucleus29.55
Cerebellum27.15
CerebellumPeduncles36.55
CiliaryGanglion22.3
CingulateCortex33.35
Colorectaladenocarcinoma77.9
DorsalRootGanglion26.65
FetalThyroid40.65
Fetalbrain31.55
Fetalliver28.9
Fetallung28.35
GlobusPallidus23
Heart278.25
Hypothalamus30.3
Kidney29.85
Leukemia_chronicMyelogenousK-56261.35
Leukemia_promyelocytic-HL-6032.95
Leukemialymphoblastic(MOLT-4)80.9
Liver68.35
Lung35.5
Lymphnode28.3
Lymphoma_burkitts(Daudi)44.9
Lymphoma_burkitts(Raji)83.1
MedullaOblongata24.9
OccipitalLobe26.55
OlfactoryBulb26.05
Ovary12.35
Pancreas26.6
PancreaticIslet55.25
ParietalLobe30
Pituitary39.45
Placenta37.65
Pons31.5
PrefrontalCortex34.1
Prostate47.6
Salivarygland16.1
SkeletalMuscle25.5
Skin24.6
SmoothMuscle37.55
Spinalcord35.95
SubthalamicNucleus31
SuperiorCervicalGanglion10.7
TemporalLobe31
Testis23.4
TestisGermCell25.75
TestisIntersitial17.9
TestisLeydigCell13
TestisSeminiferousTubule22.4
Thalamus33.7
Thymus28.85
Thyroid42.4
Tongue13.55
Tonsil23.6
Trachea22.05
TrigeminalGanglion31.65
Uterus25.4
UterusCorpus17.35
WholeBlood52.3
Wholebrain39
colon15.45
pineal_day80.72
pineal_night72.7
retina36.775
small_intestine15.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8393_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
Amygdala5.02 ± 0.85
Basal Forebrain5.14 ± 0.6
Basal Part of Pons5.44 ± 0.75
Cerebellar Cortex5.31 ± 0.7
Cerebellar Nuclei4.72 ± 0.66
Claustrum4.33 ± 1.21
Epithalamus5.16 ± 0.42
Frontal Lobe5.3 ± 0.61
Globus Pallidus4.42 ± 0.38
Hypothalamus5.35 ± 0.55
Insula5.39 ± 0.42
Limbic Lobe4.92 ± 0.78
Mesencephalon4.81 ± 0.66
Myelencephalon5.07 ± 0.7
Occipital Lobe4.24 ± 0.79
Parietal Lobe5 ± 0.6
Pontine Tegmentum5.01 ± 0.63
Striatum4.47 ± 0.56
Subthalamus4.69 ± 0.26
Temporal Lobe5.42 ± 0.55
Thalamus5.01 ± 0.65
White Matter4.88 ± 0.53
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00002918 22 85 106 GKEDPWNSITSGALTGAVLAAR 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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