AutismKB 2.0

Annotation Detail for PTTG1IP


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Basic Information Top
Gene Symbol:PTTG1IP ( C21orf1,C21orf3,PBF )
Gene Full Name: pituitary tumor-transforming 1 interacting protein
Band: 21q22.3
Quick LinksEntrez ID:754; OMIM: 603784; Uniprot ID:PTTG_HUMAN; ENSEMBL ID: ENSG00000183255; HGNC ID: 13524
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 body29 / 70761409
blastocyst18 / 62319288
fetus145 / 564012257
neonate33 / 310971061
infant6 / 23620254
juvenile55 / 55556989
adult719 / 1939121370
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma3 / 17475171
breast (mammary gland) tumor40 / 94178424
cervical tumor6 / 34366174
chondrosarcoma27 / 82823325
colorectal tumor43 / 114246376
esophageal tumor9 / 17290520
gastrointestinal tumor38 / 119369318
germ cell tumor215 / 263845814
glioma26 / 106883243
head and neck tumor51 / 136302374
kidney tumor39 / 68959565
leukemia23 / 95842239
liver tumor69 / 96359716
lung tumor22 / 103127213
lymphoma11 / 71755153
non-neoplasia45 / 97250462
normal1261 / 3360307375
ovarian tumor42 / 76682547
pancreatic tumor66 / 104616630
primitive neuroectodermal tumor of the CNS88 / 125680700
prostate cancer26 / 102680253
retinoblastoma17 / 46356366
skin tumor92 / 124949736
soft tissue/muscle tissue tumor22 / 125191175
uterine tumor36 / 90257398
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland11 / 33197331
ascites16 / 40015399
bladder9 / 29757302
blood22 / 123478178
bone30 / 71655418
bone marrow27 / 48801553
brain468 / 1100989425
cervix8 / 48171166
connective tissue82 / 149255549
ear6 / 16212370
embryonic tissue70 / 215722324
esophagus9 / 20209445
eye39 / 211054184
heart47 / 89626524
intestine106 / 234472452
kidney150 / 211777708
larynx1 / 2414541
liver86 / 207743413
lung113 / 336974335
lymph7 / 44270158
lymph node8 / 9161087
mammary gland76 / 153271495
mouth27 / 67052402
muscle19 / 107715176
nerve7 / 15768443
ovary49 / 102051480
pancreas87 / 214812405
parathyroid4 / 20539194
pharynx3 / 4132872
pituitary gland5 / 16585301
placenta137 / 280825487
prostate71 / 189345374
salivary gland5 / 20155248
skin196 / 210574930
spleen40 / 53952741
stomach25 / 96619258
testis190 / 330442574
thymus18 / 81131221
thyroid28 / 47473589
tonsil1 / 1699958
trachea24 / 52413457
umbilical cord6 / 13680438
uterus92 / 232878395
vascular49 / 51780946
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200677_at
Cell line Expression level Expression bar
721_B_lymphoblasts147.75
Adipocyte363.25
AdrenalCortex208.65
Adrenalgland221.15
Amygdala250.75
Appendix181.25
AtrioventricularNode95.5
BDCA4+_DentriticCells838
Bonemarrow112.95
BronchialEpithelialCells643.45
CD105+_Endothelial270.7
CD14+_Monocytes961.4
CD19+_BCells(neg._sel.)209.2
CD33+_Myeloid1486.45
CD34+906.7
CD4+_Tcells293.85
CD56+_NKCells563.15
CD71+_EarlyErythroid360
CD8+_Tcells238.95
CardiacMyocytes569.7
Caudatenucleus174.55
Cerebellum87.1
CerebellumPeduncles114.85
CiliaryGanglion113.4
CingulateCortex95.85
Colorectaladenocarcinoma2224.5
DorsalRootGanglion96.35
FetalThyroid697.15
Fetalbrain260.35
Fetalliver103.15
Fetallung700.35
GlobusPallidus36.8
Heart243.55
Hypothalamus460.05
Kidney251.75
Leukemia_chronicMyelogenousK-562504.55
Leukemia_promyelocytic-HL-6057.65
Leukemialymphoblastic(MOLT-4)160.25
Liver257.1
Lung1263.8
Lymphnode286.45
Lymphoma_burkitts(Daudi)79.65
Lymphoma_burkitts(Raji)153.7
MedullaOblongata103.05
OccipitalLobe130.5
OlfactoryBulb499.3
Ovary105.6
Pancreas264.65
PancreaticIslet307
ParietalLobe104.85
Pituitary179.7
Placenta1556.65
Pons70.35
PrefrontalCortex331.7
Prostate719.1
Salivarygland253.3
SkeletalMuscle50.75
Skin94.3
SmoothMuscle1025.35
Spinalcord636.9
SubthalamicNucleus93.25
SuperiorCervicalGanglion83.2
TemporalLobe81.2
Testis358.5
TestisGermCell493.7
TestisIntersitial302.35
TestisLeydigCell261.4
TestisSeminiferousTubule240.35
Thalamus209.75
Thymus197.05
Thyroid1139.65
Tongue116.75
Tonsil207.95
Trachea227.55
TrigeminalGanglion94.9
Uterus646.6
UterusCorpus476.6
WholeBlood523.55
Wholebrain293.6
colon462.9
pineal_day226.84
pineal_night196.98
retina745.35
small_intestine356.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P391260
  • 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
Amygdala9.7 ± 0.29
Basal Forebrain9.94 ± 0.31
Basal Part of Pons9.2 ± 0.25
Cerebellar Cortex9.44 ± 0.23
Cerebellar Nuclei9.87 ± 0.55
Claustrum9.72 ± 0.44
Epithalamus10.49 ± 0.31
Frontal Lobe9.6 ± 0.42
Globus Pallidus11.06 ± 0.29
Hypothalamus9.97 ± 0.66
Insula9.56 ± 0.29
Limbic Lobe9.62 ± 0.48
Mesencephalon9.95 ± 0.33
Myelencephalon9.8 ± 0.42
Occipital Lobe9.81 ± 0.51
Parietal Lobe9.55 ± 0.43
Pontine Tegmentum9.89 ± 0.3
Striatum10.06 ± 0.42
Subthalamus9.77 ± 0.18
Temporal Lobe9.6 ± 0.35
Thalamus9.91 ± 0.29
White Matter11.16 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pttg1ipCBCerebellum45.6
32.52
Pttg1ipCTXCerebral cortex52.66
31.42
Pttg1ipHIPHippocampal region43.06
30.22
Pttg1ipHPFHippocampal formation57.32
39.49
Pttg1ipHYHypothalamus47.06
28.78
Pttg1ipLSXLateral septal complex29.71
13.98
Pttg1ipMBMidbrain32.88
23.17
Pttg1ipMYMedulla59.83
46.26
Pttg1ipOLFOlfactory bulb93.51
54.02
Pttg1ipPPons67.07
44
Pttg1ipPALPallidum34.04
20.19
Pttg1ipRHPRetrohippocampal region78.83
49.75
Pttg1ipsAMYStriatum-like amygdalar nuclei78.69
44.72
Pttg1ipSTRStriatum74.15
37.97
Pttg1ipSTRdStriatum dorsal region67.15
33.43
Pttg1ipSTRvStriatum ventral region100
57.34
Pttg1ipTHThalamus34.21
20.6
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000219 18 65 82 ACLDYPVTSVLPPASLCK 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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