AutismKB 2.0

Annotation Detail for TERF2IP


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Basic Information Top
Gene Symbol:TERF2IP ( DRIP5,RAP1 )
Gene Full Name: telomeric repeat binding factor 2, interacting protein
Band: 16q23.1
Quick LinksEntrez ID:54386; OMIM: 605061; Uniprot ID:TE2IP_HUMAN; ENSEMBL ID: ENSG00000166848; HGNC ID: 19246
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
blastocyst1 / 6231916
fetus110 / 564012195
neonate7 / 31097225
infant4 / 23620169
juvenile9 / 55556161
adult217 / 1939121111
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor3 / 9417831
cervical tumor6 / 34366174
chondrosarcoma7 / 8282384
colorectal tumor19 / 114246166
esophageal tumor3 / 17290173
gastrointestinal tumor9 / 11936975
germ cell tumor56 / 263845212
glioma22 / 106883205
head and neck tumor12 / 13630288
kidney tumor13 / 68959188
leukemia7 / 9584273
liver tumor11 / 96359114
lung tumor6 / 10312758
lymphoma6 / 7175583
non-neoplasia15 / 97250154
normal617 / 3360307183
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS19 / 125680151
prostate cancer21 / 102680204
retinoblastoma3 / 4635664
skin tumor9 / 12494972
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland7 / 33197210
ascites3 / 4001574
bladder5 / 29757168
blood8 / 12347864
bone5 / 7165569
bone marrow4 / 4880181
brain428 / 1100989388
cervix6 / 48171124
connective tissue9 / 14925560
ear8 / 16212493
embryonic tissue9 / 21572241
esophagus3 / 20209148
eye32 / 211054151
heart19 / 89626211
intestine27 / 234472115
kidney25 / 211777118
larynx0 / 241450 
liver25 / 207743120
lung39 / 336974115
lymph4 / 4427090
lymph node6 / 9161065
mammary gland6 / 15327139
mouth5 / 6705274
muscle8 / 10771574
nerve2 / 15768126
ovary3 / 10205129
pancreas20 / 21481293
parathyroid5 / 20539243
pharynx1 / 4132824
pituitary gland8 / 16585482
placenta19 / 28082567
prostate26 / 189345137
salivary gland2 / 2015599
skin24 / 210574113
spleen14 / 53952259
stomach7 / 9661972
testis66 / 330442199
thymus22 / 81131271
thyroid9 / 47473189
tonsil2 / 16999117
trachea3 / 5241357
umbilical cord1 / 1368073
uterus16 / 23287868
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201174_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts276.5
Adipocyte37.75
AdrenalCortex119.7
Adrenalgland152.65
Amygdala1146.8
Appendix55.05
AtrioventricularNode19.1
BDCA4+_DentriticCells378.1
Bonemarrow255.4
BronchialEpithelialCells59.8
CD105+_Endothelial279.6
CD14+_Monocytes248
CD19+_BCells(neg._sel.)416.8
CD33+_Myeloid257.15
CD34+275.95
CD4+_Tcells406.5
CD56+_NKCells773.35
CD71+_EarlyErythroid1365.85
CD8+_Tcells415.3
CardiacMyocytes49.25
Caudatenucleus559.85
Cerebellum545.95
CerebellumPeduncles607.65
CiliaryGanglion48.2
CingulateCortex492.2
Colorectaladenocarcinoma34.1
DorsalRootGanglion49.55
FetalThyroid75
Fetalbrain624.4
Fetalliver174.45
Fetallung248
GlobusPallidus360.95
Heart48.65
Hypothalamus1110.15
Kidney34.95
Leukemia_chronicMyelogenousK-56286.5
Leukemia_promyelocytic-HL-60166.25
Leukemialymphoblastic(MOLT-4)136.6
Liver64.9
Lung135.3
Lymphnode172.95
Lymphoma_burkitts(Daudi)274.7
Lymphoma_burkitts(Raji)197.95
MedullaOblongata496.15
OccipitalLobe587
OlfactoryBulb199.8
Ovary34.2
Pancreas71.1
PancreaticIslet308.2
ParietalLobe467.5
Pituitary818.45
Placenta74.8
Pons258.9
PrefrontalCortex1140.6
Prostate135.45
Salivarygland73.7
SkeletalMuscle34.55
Skin33.1
SmoothMuscle102.2
Spinalcord449.4
SubthalamicNucleus506.15
SuperiorCervicalGanglion55.8
TemporalLobe421.85
Testis273
TestisGermCell294
TestisIntersitial126.35
TestisLeydigCell119.5
TestisSeminiferousTubule168.75
Thalamus591.5
Thymus188.95
Thyroid251.5
Tongue41.4
Tonsil83.4
Trachea76.85
TrigeminalGanglion41.2
Uterus113.1
UterusCorpus57.8
WholeBlood268.55
Wholebrain754.85
colon36.95
pineal_day3257.38
pineal_night2811.74
retina328.5
small_intestine41.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P129704
  • 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
Amygdala11.3 ± 0.4
Basal Forebrain11.54 ± 0.17
Basal Part of Pons11.6 ± 0.21
Cerebellar Cortex11.71 ± 0.14
Cerebellar Nuclei11.44 ± 0.18
Claustrum11.41 ± 0.38
Epithalamus11.33 ± 0.37
Frontal Lobe11.52 ± 0.27
Globus Pallidus10.71 ± 0.22
Hypothalamus11.93 ± 0.36
Insula11.67 ± 0.26
Limbic Lobe11.36 ± 0.4
Mesencephalon11.52 ± 0.38
Myelencephalon11.4 ± 0.4
Occipital Lobe11.12 ± 0.41
Parietal Lobe11.47 ± 0.33
Pontine Tegmentum11.43 ± 0.39
Striatum11.02 ± 0.33
Subthalamus11.75 ± 0.3
Temporal Lobe11.6 ± 0.3
Thalamus11.33 ± 0.26
White Matter10.97 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Terf2ipCBCerebellum38.94
34.51
Terf2ipCTXCerebral cortex59.19
41.94
Terf2ipHIPHippocampal region43.3
29.37
Terf2ipHPFHippocampal formation50.22
38
Terf2ipHYHypothalamus26.9
16.21
Terf2ipLSXLateral septal complex5.36
2.78
Terf2ipMBMidbrain28.97
20.54
Terf2ipMYMedulla54.06
46.62
Terf2ipOLFOlfactory bulb49.51
30.89
Terf2ipPPons68.46
56.41
Terf2ipPALPallidum19.02
14.15
Terf2ipRHPRetrohippocampal region59.24
47.99
Terf2ipsAMYStriatum-like amygdalar nuclei21.9
12.44
Terf2ipSTRStriatum10.37
5.71
Terf2ipSTRdStriatum dorsal region8.42
4.68
Terf2ipSTRvStriatum ventral region12.24
6.07
Terf2ipTHThalamus33.72
21.34
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00010862 14 42 55 LSTLILHGGGTVCR Peptide Atlas
TE2IP_HUMAN_365 14 365 378 QDDIDLQKDDEDTR PRIDE

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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