AutismKB 2.0

Annotation Detail for TCAP


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Basic Information Top
Gene Symbol:TCAP ( CMD1N,LGMD2G,T-cap,TELE,telethonin )
Gene Full Name: titin-cap (telethonin)
Band: 17q12
Quick LinksEntrez ID:8557; OMIM: 604488; Uniprot ID:TELT_HUMAN; ENSEMBL ID: ENSG00000173991; HGNC ID: 11610
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
blastocyst6 / 6231996
fetus47 / 56401283
neonate5 / 31097160
infant1 / 2362042
juvenile10 / 55556179
adult396 / 1939121204
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) tumor15 / 94178159
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor2 / 17290115
gastrointestinal tumor19 / 119369159
germ cell tumor21 / 26384579
glioma13 / 106883121
head and neck tumor8 / 13630258
kidney tumor3 / 6895943
leukemia8 / 9584283
liver tumor4 / 9635941
lung tumor11 / 103127106
lymphoma10 / 71755139
non-neoplasia10 / 97250102
normal629 / 3360307187
ovarian tumor4 / 7668252
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS25 / 125680198
prostate cancer2 / 10268019
retinoblastoma3 / 4635664
skin tumor12 / 12494996
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites7 / 40015174
bladder1 / 2975733
blood20 / 123478161
bone6 / 7165583
bone marrow0 / 488010 
brain125 / 1100989113
cervix10 / 48171207
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus3 / 20209148
eye30 / 211054142
heart65 / 89626725
intestine20 / 23447285
kidney8 / 21177737
larynx2 / 2414582
liver6 / 20774328
lung28 / 33697483
lymph4 / 4427090
lymph node9 / 9161098
mammary gland18 / 153271117
mouth5 / 6705274
muscle274 / 1077152543
nerve1 / 1576863
ovary3 / 10205129
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland3 / 16585180
placenta31 / 280825110
prostate23 / 189345121
salivary gland2 / 2015599
skin25 / 210574118
spleen7 / 53952129
stomach13 / 96619134
testis29 / 33044287
thymus25 / 81131308
thyroid2 / 4747342
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus22 / 23287894
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202991_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.35
Adipocyte7.5
AdrenalCortex9.15
Adrenalgland7.5
Amygdala8.1
Appendix7.25
AtrioventricularNode6.05
BDCA4+_DentriticCells26.35
Bonemarrow8.05
BronchialEpithelialCells7
CD105+_Endothelial7.75
CD14+_Monocytes23.9
CD19+_BCells(neg._sel.)21.55
CD33+_Myeloid28.15
CD34+21.35
CD4+_Tcells33.2
CD56+_NKCells30.8
CD71+_EarlyErythroid7.2
CD8+_Tcells27.9
CardiacMyocytes9.4
Caudatenucleus6.75
Cerebellum6.15
CerebellumPeduncles8.85
CiliaryGanglion5.5
CingulateCortex9.05
Colorectaladenocarcinoma13.35
DorsalRootGanglion5.7
FetalThyroid7.35
Fetalbrain7.55
Fetalliver6.15
Fetallung6.45
GlobusPallidus6
Heart9.5
Hypothalamus8.4
Kidney6
Leukemia_chronicMyelogenousK-5626.9
Leukemia_promyelocytic-HL-606.1
Leukemialymphoblastic(MOLT-4)7.85
Liver10.05
Lung35.25
Lymphnode6.6
Lymphoma_burkitts(Daudi)9.8
Lymphoma_burkitts(Raji)10.6
MedullaOblongata6.8
OccipitalLobe6.6
OlfactoryBulb8.75
Ovary5.5
Pancreas6
PancreaticIslet7.85
ParietalLobe7.9
Pituitary8.35
Placenta8.4
Pons7.2
PrefrontalCortex12.35
Prostate12.05
Salivarygland5.95
SkeletalMuscle8.35
Skin5.65
SmoothMuscle8.6
Spinalcord8.55
SubthalamicNucleus6.9
SuperiorCervicalGanglion8.35
TemporalLobe6.9
Testis6.9
TestisGermCell7.15
TestisIntersitial7
TestisLeydigCell7.55
TestisSeminiferousTubule7.35
Thalamus7.75
Thymus5.65
Thyroid12.3
Tongue7.15
Tonsil7.4
Trachea5.95
TrigeminalGanglion7.75
Uterus5.9
UterusCorpus6.6
WholeBlood15.35
Wholebrain9.35
colon6.7
pineal_day21.94
pineal_night12.08
retina9.2
small_intestine6.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14285_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
Amygdala2.38 ± 1.01
Basal Forebrain1.86 ± 0.13
Basal Part of Pons1.46 ± 0.47
Cerebellar Cortex2.07 ± 0.65
Cerebellar Nuclei1.95 ± 0.67
Claustrum2.5 ± 0.93
Epithalamus1.34 ± 0.86
Frontal Lobe1.7 ± 0.78
Globus Pallidus2.21 ± 0.64
Hypothalamus1.83 ± 0.65
Insula1.56 ± 0.64
Limbic Lobe1.7 ± 0.77
Mesencephalon1.91 ± 0.75
Myelencephalon1.9 ± 0.74
Occipital Lobe1.64 ± 0.76
Parietal Lobe1.7 ± 0.85
Pontine Tegmentum1.83 ± 0.78
Striatum1.63 ± 0.74
Subthalamus1.92 ± 0.71
Temporal Lobe1.98 ± 0.79
Thalamus1.8 ± 0.74
White Matter2.25 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
TcapCBCerebellum13.35
17.24
TcapCTXCerebral cortex21.74
15.98
TcapHIPHippocampal region7.4
6.82
TcapHPFHippocampal formation9.17
7.76
TcapHYHypothalamus1.74
1.33
TcapLSXLateral septal complex0.5
0.6
TcapMBMidbrain4.56
4.31
TcapMYMedulla8.01
8.43
TcapOLFOlfactory bulb9.61
8.39
TcapPPons3.06
3.16
TcapPALPallidum3.83
4.04
TcapRHPRetrohippocampal region12.8
9.6
TcapsAMYStriatum-like amygdalar nuclei3.36
2.64
TcapSTRStriatum3.41
2.87
TcapSTRdStriatum dorsal region3.34
3.04
TcapSTRvStriatum ventral region4.76
3.14
TcapTHThalamus4.28
3.65
Peptide Top

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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