AutismKB 2.0

Annotation Detail for TGFBI


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Basic Information Top
Gene Symbol:TGFBI ( BIGH3,CDB1,CDG2,CDGG1,CSD,CSD1,CSD2,CSD3,EBMD,LCD1 )
Gene Full Name: transforming growth factor, beta-induced, 68kDa
Band: 5q31.1
Quick LinksEntrez ID:7045; OMIM: 601692; Uniprot ID:BGH3_HUMAN; ENSEMBL ID: ENSG00000120708; HGNC ID: 11771
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 body73 / 707611031
blastocyst19 / 62319304
fetus159 / 564012281
neonate59 / 310971897
infant0 / 236200 
juvenile8 / 55556143
adult1076 / 1939121554
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor16 / 94178169
cervical tumor16 / 34366465
chondrosarcoma227 / 828232740
colorectal tumor80 / 114246700
esophageal tumor12 / 17290694
gastrointestinal tumor11 / 11936992
germ cell tumor141 / 263845534
glioma253 / 1068832367
head and neck tumor197 / 1363021445
kidney tumor335 / 689594857
leukemia44 / 95842459
liver tumor48 / 96359498
lung tumor75 / 103127727
lymphoma2 / 7175527
non-neoplasia237 / 972502437
normal2270 / 3360307675
ovarian tumor3 / 7668239
pancreatic tumor114 / 1046161089
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer29 / 102680282
retinoblastoma0 / 463560 
skin tumor39 / 124949312
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor17 / 90257188
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland4 / 33197120
ascites0 / 400150 
bladder2 / 2975767
blood17 / 123478137
bone35 / 71655488
bone marrow38 / 48801778
brain868 / 1100989788
cervix18 / 48171373
connective tissue453 / 1492553035
ear6 / 16212370
embryonic tissue128 / 215722593
esophagus13 / 20209643
eye174 / 211054824
heart32 / 89626357
intestine124 / 234472528
kidney435 / 2117772054
larynx11 / 24145455
liver64 / 207743308
lung321 / 336974952
lymph0 / 442700 
lymph node6 / 9161065
mammary gland28 / 153271182
mouth105 / 670521565
muscle8 / 10771574
nerve4 / 15768253
ovary6 / 10205158
pancreas116 / 214812540
parathyroid0 / 205390 
pharynx53 / 413281282
pituitary gland2 / 16585120
placenta219 / 280825779
prostate39 / 189345205
salivary gland11 / 20155545
skin334 / 2105741586
spleen61 / 539521130
stomach13 / 96619134
testis27 / 33044281
thymus40 / 81131493
thyroid35 / 47473737
tonsil0 / 169990 
trachea14 / 52413267
umbilical cord13 / 13680950
uterus48 / 232878206
vascular140 / 517802703
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201506_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.15
Adipocyte964.15
AdrenalCortex33.15
Adrenalgland69.4
Amygdala13.45
Appendix51.6
AtrioventricularNode32
BDCA4+_DentriticCells3450
Bonemarrow51.75
BronchialEpithelialCells2381.2
CD105+_Endothelial107.45
CD14+_Monocytes3860.35
CD19+_BCells(neg._sel.)21.65
CD33+_Myeloid2735.35
CD34+106.7
CD4+_Tcells12.7
CD56+_NKCells240.35
CD71+_EarlyErythroid7.1
CD8+_Tcells8.6
CardiacMyocytes7285.8
Caudatenucleus10.6
Cerebellum8.2
CerebellumPeduncles11.45
CiliaryGanglion117.15
CingulateCortex6.95
Colorectaladenocarcinoma317.6
DorsalRootGanglion45.75
FetalThyroid71.9
Fetalbrain26.15
Fetalliver659.75
Fetallung771.75
GlobusPallidus8.75
Heart187.5
Hypothalamus21.1
Kidney28.1
Leukemia_chronicMyelogenousK-56210.7
Leukemia_promyelocytic-HL-606.05
Leukemialymphoblastic(MOLT-4)9.6
Liver255.1
Lung535.4
Lymphnode296.8
Lymphoma_burkitts(Daudi)10.7
Lymphoma_burkitts(Raji)14.35
MedullaOblongata11.1
OccipitalLobe7.4
OlfactoryBulb188.2
Ovary37.5
Pancreas1351.95
PancreaticIslet146.3
ParietalLobe10.6
Pituitary105.65
Placenta1009.8
Pons11.2
PrefrontalCortex10.55
Prostate196.95
Salivarygland23.75
SkeletalMuscle15.4
Skin220.45
SmoothMuscle8011.9
Spinalcord41.1
SubthalamicNucleus10.2
SuperiorCervicalGanglion15
TemporalLobe10.2
Testis16.15
TestisGermCell157.5
TestisIntersitial16.35
TestisLeydigCell31.35
TestisSeminiferousTubule10.9
Thalamus10.7
Thymus406.4
Thyroid69.1
Tongue86
Tonsil109.25
Trachea180.1
TrigeminalGanglion70.95
Uterus235
UterusCorpus1573.8
WholeBlood845.75
Wholebrain10.35
colon46.05
pineal_day1230.86
pineal_night1756.82
retina134.075
small_intestine431.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P610405
  • 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
Amygdala2.1 ± 1.01
Basal Forebrain1.66 ± 0.2
Basal Part of Pons1.34 ± 0.35
Cerebellar Cortex1.46 ± 0.71
Cerebellar Nuclei1.93 ± 0.73
Claustrum2.47 ± 0.78
Epithalamus1.38 ± 0.76
Frontal Lobe1.59 ± 0.9
Globus Pallidus2.28 ± 0.39
Hypothalamus1.72 ± 0.71
Insula1.51 ± 0.42
Limbic Lobe1.65 ± 0.6
Mesencephalon1.8 ± 0.69
Myelencephalon1.67 ± 0.66
Occipital Lobe1.61 ± 0.43
Parietal Lobe1.62 ± 0.55
Pontine Tegmentum1.7 ± 0.68
Striatum1.83 ± 0.54
Subthalamus1.8 ± 0.64
Temporal Lobe1.5 ± 0.51
Thalamus1.62 ± 0.57
White Matter2.29 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
TgfbiCBCerebellum2.43
3.2
TgfbiCTXCerebral cortex2.14
2.01
TgfbiHIPHippocampal region3.13
3.58
TgfbiHPFHippocampal formation4.54
4.39
TgfbiHYHypothalamus1.05
0.86
TgfbiLSXLateral septal complex2.67
5.07
TgfbiMBMidbrain1.76
2.14
TgfbiMYMedulla3.64
6.86
TgfbiOLFOlfactory bulb3.18
2.21
TgfbiPPons2.08
2.7
TgfbiPALPallidum1.97
1.91
TgfbiRHPRetrohippocampal region6.51
5.03
TgfbisAMYStriatum-like amygdalar nuclei1.1
1.92
TgfbiSTRStriatum1.22
1.61
TgfbiSTRdStriatum dorsal region1.05
1.31
TgfbiSTRvStriatum ventral region0.81
0.48
TgfbiTHThalamus1.54
1.63
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
BGH3_HUMAN_258 30 258 287 AAVAASGLNTMLEGNGQYTLLAPTNEAFEK PRIDE
BGH3_HUMAN_488 9 488 496 YGTLFTMDR PRIDE
BGH3_HUMAN_515 19 515 533 FSMLVAAIQSAGLTETLNR PRIDE
BGH3_HUMAN_96 29 96 124 GCPAALPLSNLYETLGVVGSTTTQLYTDR PRIDE
PAp00091776 15 220 234 ADHHATNGVVHLIDK 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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