AutismKB 2.0

Annotation Detail for TERF2


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Basic Information Top
Gene Symbol:TERF2 ( TRBF2,TRF2 )
Gene Full Name: telomeric repeat binding factor 2
Band: 16q22.1
Quick LinksEntrez ID:7014; OMIM: 602027; Uniprot ID:TERF2_HUMAN; ENSEMBL ID: ENSG00000132604; HGNC ID: 11729
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 body3 / 7076142
blastocyst2 / 6231932
fetus19 / 56401233
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult62 / 193912131
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor10 / 26384537
glioma2 / 10688318
head and neck tumor6 / 13630244
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor5 / 9635951
lung tumor2 / 10312719
lymphoma3 / 7175541
non-neoplasia2 / 9725020
normal82 / 336030724
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor1 / 1249498
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites1 / 4001524
bladder1 / 2975733
blood8 / 12347864
bone1 / 7165513
bone marrow0 / 488010 
brain24 / 110098921
cervix2 / 4817141
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye11 / 21105452
heart1 / 8962611
intestine13 / 23447255
kidney4 / 21177718
larynx2 / 2414582
liver12 / 20774357
lung7 / 33697420
lymph1 / 4427022
lymph node5 / 9161054
mammary gland1 / 1532716
mouth4 / 6705259
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas4 / 21481218
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta5 / 28082517
prostate6 / 18934531
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach0 / 966190 
testis8 / 33044224
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus6 / 23287825
vascular1 / 5178019
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203611_at
Cell line Expression level Expression bar
721_B_lymphoblasts63.1
Adipocyte16.35
AdrenalCortex21.2
Adrenalgland14.95
Amygdala49.45
Appendix22.75
AtrioventricularNode10
BDCA4+_DentriticCells38.25
Bonemarrow18.2
BronchialEpithelialCells15.2
CD105+_Endothelial40.5
CD14+_Monocytes16.45
CD19+_BCells(neg._sel.)90.25
CD33+_Myeloid22.9
CD34+31.7
CD4+_Tcells32.1
CD56+_NKCells60.05
CD71+_EarlyErythroid21.55
CD8+_Tcells36.4
CardiacMyocytes22.5
Caudatenucleus29.6
Cerebellum112.85
CerebellumPeduncles119.2
CiliaryGanglion7.15
CingulateCortex54.5
Colorectaladenocarcinoma25.45
DorsalRootGanglion12.2
FetalThyroid24.05
Fetalbrain50.2
Fetalliver17.9
Fetallung12.35
GlobusPallidus24.65
Heart21.25
Hypothalamus40.55
Kidney12.65
Leukemia_chronicMyelogenousK-56231.35
Leukemia_promyelocytic-HL-6029.75
Leukemialymphoblastic(MOLT-4)35
Liver25.35
Lung30
Lymphnode21.45
Lymphoma_burkitts(Daudi)144.25
Lymphoma_burkitts(Raji)34.35
MedullaOblongata45.15
OccipitalLobe68.75
OlfactoryBulb31.65
Ovary11.4
Pancreas12.6
PancreaticIslet27.75
ParietalLobe55.1
Pituitary32.25
Placenta28.05
Pons36.65
PrefrontalCortex147
Prostate29.95
Salivarygland15.9
SkeletalMuscle36.45
Skin16.3
SmoothMuscle11.3
Spinalcord27
SubthalamicNucleus40.5
SuperiorCervicalGanglion24.45
TemporalLobe37.65
Testis16.2
TestisGermCell21.8
TestisIntersitial18.75
TestisLeydigCell15.3
TestisSeminiferousTubule14.9
Thalamus26.9
Thymus28.95
Thyroid37.4
Tongue20.85
Tonsil66.95
Trachea20.5
TrigeminalGanglion20.6
Uterus26.75
UterusCorpus19
WholeBlood33.65
Wholebrain134.25
colon20.5
pineal_day171.92
pineal_night139.04
retina73.225
small_intestine19.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_190_PI417507815
  • 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
Amygdala5.31 ± 0.5
Basal Forebrain5.01 ± 0.25
Basal Part of Pons5.27 ± 0.55
Cerebellar Cortex5.36 ± 0.41
Cerebellar Nuclei5.15 ± 0.77
Claustrum5.02 ± 0.6
Epithalamus5.05 ± 0.83
Frontal Lobe5.24 ± 0.56
Globus Pallidus4.34 ± 0.51
Hypothalamus5.01 ± 0.64
Insula5.37 ± 0.34
Limbic Lobe5.28 ± 0.74
Mesencephalon5.26 ± 0.58
Myelencephalon5.1 ± 0.58
Occipital Lobe5.08 ± 0.39
Parietal Lobe5.23 ± 0.4
Pontine Tegmentum5.07 ± 0.61
Striatum4.75 ± 0.45
Subthalamus4.49 ± 0.63
Temporal Lobe5.23 ± 0.43
Thalamus4.95 ± 0.44
White Matter4.63 ± 0.85
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Terf2CBCerebellum3.15
4.35
Terf2CTXCerebral cortex1.01
0.86
Terf2HIPHippocampal region5.41
6.88
Terf2HPFHippocampal formation4.99
5.31
Terf2HYHypothalamus0.04
0.03
Terf2LSXLateral septal complex0.03
0
Terf2MBMidbrain0.16
0.29
Terf2MYMedulla0.63
0.59
Terf2OLFOlfactory bulb1.07
1.96
Terf2PPons0.24
0.36
Terf2PALPallidum0.09
0.11
Terf2RHPRetrohippocampal region4.3
3.21
Terf2sAMYStriatum-like amygdalar nuclei0.22
0.17
Terf2STRStriatum0.21
0.2
Terf2STRdStriatum dorsal region0.26
0.26
Terf2STRvStriatum ventral region0.02
0.02
Terf2THThalamus0.3
0.7
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00064982 13 81 93 DIMQALLVRPLGK 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