AutismKB 2.0

Annotation Detail for TTN


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Basic Information Top
Gene Symbol:TTN ( CMD1G,CMH9,CMPD4,DKFZp451N061,EOMFC,FLJ26020,FLJ26409,FLJ32040,FLJ34413,FLJ39564,FLJ43066,HMERF,LGMD2J,TMD )
Gene Full Name: titin
Band: 2q31.2
Quick LinksEntrez ID:7273; OMIM: 188840; Uniprot ID:Q4ZG20_HUMAN; ENSEMBL ID: ENSG00000155657; HGNC ID: 12403
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
blastocyst3 / 6231948
fetus192 / 564012340
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult578 / 1939121298
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor77 / 136302564
kidney tumor1 / 6895914
leukemia18 / 95842187
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal855 / 3360307254
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma3 / 4635664
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood10 / 12347880
bone0 / 716550 
bone marrow3 / 4880161
brain19 / 110098917
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye8 / 21105437
heart196 / 896262186
intestine2 / 2344728
kidney3 / 21177714
larynx64 / 241452650
liver49 / 207743235
lung20 / 33697459
lymph0 / 442700 
lymph node13 / 91610141
mammary gland8 / 15327152
mouth52 / 67052775
muscle491 / 1077154558
nerve12 / 15768761
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx14 / 41328338
pituitary gland1 / 1658560
placenta4 / 28082514
prostate13 / 18934568
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach0 / 966190 
testis9 / 33044227
thymus5 / 8113161
thyroid25 / 47473526
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus5 / 23287821
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208195_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.3
Adipocyte4.15
AdrenalCortex4.35
Adrenalgland3.5
Amygdala4.45
Appendix4.25
AtrioventricularNode3.2
BDCA4+_DentriticCells4.65
Bonemarrow4.15
BronchialEpithelialCells4.15
CD105+_Endothelial4.25
CD14+_Monocytes4.45
CD19+_BCells(neg._sel.)5.05
CD33+_Myeloid5.4
CD34+5.35
CD4+_Tcells4.65
CD56+_NKCells5.05
CD71+_EarlyErythroid3.9
CD8+_Tcells4.3
CardiacMyocytes5.35
Caudatenucleus3.8
Cerebellum3.4
CerebellumPeduncles4.75
CiliaryGanglion2.95
CingulateCortex4.3
Colorectaladenocarcinoma4.2
DorsalRootGanglion3.25
FetalThyroid456.5
Fetalbrain4.2
Fetalliver3.6
Fetallung3.55
GlobusPallidus3.05
Heart312.65
Hypothalamus4.6
Kidney3.4
Leukemia_chronicMyelogenousK-5623.75
Leukemia_promyelocytic-HL-604.7
Leukemialymphoblastic(MOLT-4)3.35
Liver5.55
Lung4.7
Lymphnode9.85
Lymphoma_burkitts(Daudi)5.35
Lymphoma_burkitts(Raji)6.45
MedullaOblongata3.9
OccipitalLobe3.8
OlfactoryBulb3.3
Ovary2.8
Pancreas3.35
PancreaticIslet4.45
ParietalLobe4.4
Pituitary4.95
Placenta4.35
Pons4
PrefrontalCortex5.2
Prostate48.9
Salivarygland3.4
SkeletalMuscle16664.9
Skin3.2
SmoothMuscle4.8
Spinalcord4.8
SubthalamicNucleus3.85
SuperiorCervicalGanglion4.8
TemporalLobe3.85
Testis30.15
TestisGermCell5.95
TestisIntersitial5.1
TestisLeydigCell4.25
TestisSeminiferousTubule3.6
Thalamus4.25
Thymus3.35
Thyroid1407.3
Tongue5640.45
Tonsil4.95
Trachea6.6
TrigeminalGanglion4.2
Uterus3.45
UterusCorpus3.75
WholeBlood4.65
Wholebrain3.55
colon5
pineal_day5.3
pineal_night5.16
retina5.125
small_intestine4.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P85269
  • 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
Amygdala3.53 ± 0.72
Basal Forebrain5.34 ± 0.88
Basal Part of Pons4.14 ± 0.53
Cerebellar Cortex3.59 ± 0.63
Cerebellar Nuclei4.69 ± 0.6
Claustrum5.77 ± 1.03
Epithalamus5.13 ± 0.68
Frontal Lobe4.37 ± 0.7
Globus Pallidus5.38 ± 0.48
Hypothalamus4.09 ± 0.99
Insula4.77 ± 0.82
Limbic Lobe3.91 ± 0.98
Mesencephalon4.37 ± 0.94
Myelencephalon4.67 ± 0.96
Occipital Lobe4.48 ± 0.85
Parietal Lobe4.06 ± 0.75
Pontine Tegmentum4.28 ± 0.87
Striatum6 ± 0.67
Subthalamus5.38 ± 0.78
Temporal Lobe4.28 ± 0.68
Thalamus5.01 ± 1.01
White Matter4.83 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
TtnCBCerebellum1.33
2.14
TtnCTXCerebral cortex0.73
0.88
TtnHIPHippocampal region1.52
2.11
TtnHPFHippocampal formation1.07
1.37
TtnHYHypothalamus0.47
0.4
TtnLSXLateral septal complex0.12
0.1
TtnMBMidbrain2.43
2.7
TtnMYMedulla1.46
1.66
TtnOLFOlfactory bulb1.51
2.04
TtnPPons2.46
2.83
TtnPALPallidum0.7
0.79
TtnRHPRetrohippocampal region0.57
0.58
TtnsAMYStriatum-like amygdalar nuclei0.2
0.16
TtnSTRStriatum0.62
0.52
TtnSTRdStriatum dorsal region0.68
0.61
TtnSTRvStriatum ventral region0.92
0.62
TtnTHThalamus1.47
1.41
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01364085 16 24313 24328 LLLQATPQFHPGYPLK 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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