AutismKB 2.0

Annotation Detail for TUBB2C


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Basic Information Top
Gene Symbol:TUBB2C ( TUBB2 )
Gene Full Name: tubulin, beta 2C
Band: 9q34
Quick LinksEntrez ID:10383; OMIM: 602660; Uniprot ID:TBB2C_HUMAN; ENSEMBL ID: ENSG00000188229; HGNC ID:
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 body59 / 70761833
blastocyst43 / 62319689
fetus107 / 564012189
neonate7 / 31097225
infant30 / 236201270
juvenile35 / 55556629
adult608 / 1939121313
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor10 / 12794781
bladder carcinoma4 / 17475228
breast (mammary gland) tumor23 / 94178244
cervical tumor51 / 343661484
chondrosarcoma28 / 82823338
colorectal tumor98 / 114246857
esophageal tumor2 / 17290115
gastrointestinal tumor112 / 119369938
germ cell tumor172 / 263845651
glioma38 / 106883355
head and neck tumor29 / 136302212
kidney tumor59 / 68959855
leukemia20 / 95842208
liver tumor56 / 96359581
lung tumor149 / 1031271444
lymphoma85 / 717551184
non-neoplasia35 / 97250359
normal1016 / 3360307302
ovarian tumor65 / 76682847
pancreatic tumor66 / 104616630
primitive neuroectodermal tumor of the CNS154 / 1256801225
prostate cancer54 / 102680525
retinoblastoma132 / 463562847
skin tumor219 / 1249491752
soft tissue/muscle tissue tumor159 / 1251911270
uterine tumor49 / 90257542
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland12 / 33197361
ascites43 / 400151074
bladder6 / 29757201
blood38 / 123478307
bone24 / 71655334
bone marrow5 / 48801102
brain417 / 1100989378
cervix59 / 481711224
connective tissue16 / 149255107
ear1 / 1621261
embryonic tissue158 / 215722732
esophagus6 / 20209296
eye213 / 2110541009
heart26 / 89626290
intestine157 / 234472669
kidney70 / 211777330
larynx7 / 24145289
liver80 / 207743385
lung226 / 336974670
lymph78 / 442701761
lymph node16 / 91610174
mammary gland25 / 153271163
mouth4 / 6705259
muscle89 / 107715826
nerve9 / 15768570
ovary98 / 102051960
pancreas79 / 214812367
parathyroid1 / 2053948
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta150 / 280825534
prostate62 / 189345327
salivary gland44 / 201552183
skin233 / 2105741106
spleen5 / 5395292
stomach71 / 96619734
testis246 / 330442744
thymus10 / 81131123
thyroid7 / 47473147
tonsil7 / 16999411
trachea1 / 5241319
umbilical cord4 / 13680292
uterus145 / 232878622
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208977_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts2020.1
Adipocyte672.8
AdrenalCortex232.4
Adrenalgland193.35
Amygdala3224.65
Appendix97.55
AtrioventricularNode10.95
BDCA4+_DentriticCells428.3
Bonemarrow466.9
BronchialEpithelialCells1207.9
CD105+_Endothelial2217
CD14+_Monocytes245.6
CD19+_BCells(neg._sel.)90.7
CD33+_Myeloid620.55
CD34+1199.6
CD4+_Tcells63
CD56+_NKCells214.55
CD71+_EarlyErythroid3571.8
CD8+_Tcells55
CardiacMyocytes1866.35
Caudatenucleus811.65
Cerebellum1528.95
CerebellumPeduncles1652.55
CiliaryGanglion487.55
CingulateCortex1565.2
Colorectaladenocarcinoma3231.35
DorsalRootGanglion988.9
FetalThyroid483.35
Fetalbrain7386.15
Fetalliver512.5
Fetallung591.75
GlobusPallidus1040.3
Heart1479.65
Hypothalamus3070.8
Kidney162.4
Leukemia_chronicMyelogenousK-5621025.4
Leukemia_promyelocytic-HL-60784.3
Leukemialymphoblastic(MOLT-4)881.95
Liver797.3
Lung1579.05
Lymphnode67.45
Lymphoma_burkitts(Daudi)1348.85
Lymphoma_burkitts(Raji)615.35
MedullaOblongata1343.75
OccipitalLobe1859.95
OlfactoryBulb287.3
Ovary20.75
Pancreas116.3
PancreaticIslet199.8
ParietalLobe1499.4
Pituitary415.2
Placenta630.25
Pons1069.15
PrefrontalCortex2528.85
Prostate1093.9
Salivarygland71.05
SkeletalMuscle59.4
Skin172.95
SmoothMuscle1864.75
Spinalcord1316.9
SubthalamicNucleus1383.05
SuperiorCervicalGanglion40.7
TemporalLobe1944.35
Testis3335.75
TestisGermCell2978.3
TestisIntersitial4216.45
TestisLeydigCell3521.35
TestisSeminiferousTubule3339.6
Thalamus2398.45
Thymus840.65
Thyroid479.1
Tongue450.7
Tonsil642.2
Trachea425.85
TrigeminalGanglion244
Uterus397.85
UterusCorpus111.65
WholeBlood259.9
Wholebrain4138.45
colon948.15
pineal_day5391.3
pineal_night3789.74
retina1266.55
small_intestine883
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P312863
  • 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
Amygdala8.22 ± 0.54
Basal Forebrain8.28 ± 0.16
Basal Part of Pons9.18 ± 0.24
Cerebellar Cortex8.66 ± 0.28
Cerebellar Nuclei8.58 ± 0.3
Claustrum8.29 ± 0.4
Epithalamus9.58 ± 0.67
Frontal Lobe8.96 ± 0.4
Globus Pallidus8.13 ± 0.58
Hypothalamus9.1 ± 0.41
Insula8.93 ± 0.35
Limbic Lobe8.61 ± 0.55
Mesencephalon8.58 ± 0.53
Myelencephalon8.61 ± 0.65
Occipital Lobe8.04 ± 0.62
Parietal Lobe8.63 ± 0.47
Pontine Tegmentum8.57 ± 0.62
Striatum7.55 ± 0.61
Subthalamus8.92 ± 0.44
Temporal Lobe8.8 ± 0.42
Thalamus8.61 ± 0.38
White Matter7.16 ± 0.25
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001719 18 224 241 DLNHLVSATMSGVTTCLR Peptide Atlas
TBB2C_HUMAN_0 0 0 0 MREIVHLQAGQCGNQIGAK PRIDE
TBB2C_HUMAN_102 20 102 121 AKGHYTEGAELVDSVLDVVR PRIDE
TBB2C_HUMAN_103 18 103 120 GHYTEGAELVDSVLDVVR PRIDE
TBB2C_HUMAN_103 19 103 121 GHYTEGAELVDSVLDVVRK PRIDE
TBB2C_HUMAN_104 18 104 121 GHYTEGAELVDSVLDVVR PRIDE
TBB2C_HUMAN_122 32 122 153 EAESCDCLQGFQLTHSLGGGTGSGMGTLLISK PRIDE
TBB2C_HUMAN_134 23 134 156 QLTHSLGGGTGSGMGTLLISKIR PRIDE
TBB2C_HUMAN_138 19 138 156 SLGGGTGSGMGTLLISKIR PRIDE
TBB2C_HUMAN_154 20 154 173 IREEYPDRIMNTFSVVPSPK PRIDE
TBB2C_HUMAN_162 12 162 173 IMNTFSVVPSPK PRIDE
TBB2C_HUMAN_163 12 163 174 IMNTFSVVPSPK PRIDE
TBB2C_HUMAN_19 27 19 45 FWEVISDEHGIDPTGTYHGDSDLQLER PRIDE
TBB2C_HUMAN_2 17 2 18 EIVHLQAGQCGNQIGAK PRIDE
TBB2C_HUMAN_213 28 213 240 TLKLTTPTYGDLNHLVSATMSGVTTCLR PRIDE
TBB2C_HUMAN_213 38 213 250 TLKLTTPTYGDLNHLVSATMSGVTTCLRFPGQLNADLR PRIDE
TBB2C_HUMAN_216 25 216 240 LTTPTYGDLNHLVSATMSGVTTCLR PRIDE
TBB2C_HUMAN_241 10 241 250 FPGQLNADLR PRIDE
TBB2C_HUMAN_241 11 241 251 FPGQLNADLRK PRIDE
TBB2C_HUMAN_242 10 242 251 FPGQLNADLR PRIDE
TBB2C_HUMAN_251 11 251 261 KLAVNMVPFPR PRIDE
TBB2C_HUMAN_251 25 251 275 KLAVNMVPFPRLHFFMPGFAPLTSR PRIDE
TBB2C_HUMAN_252 10 252 261 LAVNMVPFPR PRIDE
TBB2C_HUMAN_252 24 252 275 LAVNMVPFPRLHFFMPGFAPLTSR PRIDE
TBB2C_HUMAN_253 10 253 262 LAVNMVPFPR PRIDE
TBB2C_HUMAN_262 14 262 275 LHFFMPGFAPLTSR PRIDE
TBB2C_HUMAN_268 9 268 276 PGFAPLTSR PRIDE
TBB2C_HUMAN_282 15 282 296 ALTVPELTQQMFDAK PRIDE
TBB2C_HUMAN_283 15 283 297 ALTVPELTQQMFDAK PRIDE
TBB2C_HUMAN_297 9 297 305 NMMAACDPR PRIDE
TBB2C_HUMAN_309 9 309 317 YLTVAAVFR PRIDE
TBB2C_HUMAN_320 16 320 335 MSMKEVDEQMLNVQNK PRIDE
TBB2C_HUMAN_324 12 324 335 EVDEQMLNVQNK PRIDE
TBB2C_HUMAN_325 12 325 336 EVDEQMLNVQNK PRIDE
TBB2C_HUMAN_336 14 336 349 NSSYFVEWIPNNVK PRIDE
TBB2C_HUMAN_350 9 350 358 TAVCDIPPR PRIDE
TBB2C_HUMAN_362 17 362 378 MSATFIGNSTAIQELFK PRIDE
TBB2C_HUMAN_362 18 362 379 MSATFIGNSTAIQELFKR PRIDE
TBB2C_HUMAN_363 17 363 379 MSATFIGNSTAIQELFK PRIDE
TBB2C_HUMAN_379 11 379 389 RISEQFTAMFR PRIDE
TBB2C_HUMAN_380 10 380 389 ISEQFTAMFR PRIDE
TBB2C_HUMAN_46 12 46 57 INVYYNEATGGK PRIDE
TBB2C_HUMAN_46 16 46 61 INVYYNEATGGKYVPR PRIDE
TBB2C_HUMAN_47 12 47 58 INVYYNEATGGK PRIDE
TBB2C_HUMAN_62 15 62 76 AVLVDLEPGTMDSVR PRIDE
TBB2C_HUMAN_63 15 63 77 AVLVDLEPGTMDSVR PRIDE
TBB2C_HUMAN_77 26 77 102 SGPFGQIFRPDNFVFGQSGAGNNWAK 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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