AutismKB 2.0

Annotation Detail for FBLN2


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Basic Information Top
Gene Symbol:FBLN2 ( - )
Gene Full Name: fibulin 2
Band: 3p25.1
Quick LinksEntrez ID:2199; OMIM: 135821; Uniprot ID:FBLN2_HUMAN; ENSEMBL ID: ENSG00000163520; HGNC ID: 3601
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 body4 / 7076156
blastocyst4 / 6231964
fetus30 / 56401253
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult117 / 193912160
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma8 / 8282396
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor17 / 119369142
germ cell tumor25 / 26384594
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal178 / 336030752
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue5 / 13106381
adrenal gland0 / 331970 
ascites4 / 4001599
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain19 / 110098917
cervix1 / 4817120
connective tissue13 / 14925587
ear1 / 1621261
embryonic tissue8 / 21572237
esophagus1 / 2020949
eye8 / 21105437
heart12 / 89626133
intestine3 / 23447212
kidney10 / 21177747
larynx1 / 2414541
liver0 / 2077430 
lung7 / 33697420
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth2 / 6705229
muscle5 / 10771546
nerve2 / 15768126
ovary14 / 102051137
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta57 / 280825202
prostate4 / 18934521
salivary gland0 / 201550 
skin6 / 21057428
spleen1 / 5395218
stomach13 / 96619134
testis78 / 330442236
thymus6 / 8113173
thyroid1 / 4747321
tonsil0 / 169990 
trachea11 / 52413209
umbilical cord1 / 1368073
uterus26 / 232878111
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203886_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.15
Adipocyte905.7
AdrenalCortex6.25
Adrenalgland4.4
Amygdala5.3
Appendix24.4
AtrioventricularNode4.25
BDCA4+_DentriticCells5.75
Bonemarrow5.1
BronchialEpithelialCells4.9
CD105+_Endothelial5.1
CD14+_Monocytes5.4
CD19+_BCells(neg._sel.)5.55
CD33+_Myeloid6.4
CD34+6.45
CD4+_Tcells5.55
CD56+_NKCells6
CD71+_EarlyErythroid4.85
CD8+_Tcells4.85
CardiacMyocytes239.25
Caudatenucleus4.55
Cerebellum4.15
CerebellumPeduncles5.85
CiliaryGanglion4.2
CingulateCortex5.15
Colorectaladenocarcinoma4.9
DorsalRootGanglion4.25
FetalThyroid30.1
Fetalbrain4.95
Fetalliver4.4
Fetallung4.75
GlobusPallidus3.95
Heart20.5
Hypothalamus5.35
Kidney4.2
Leukemia_chronicMyelogenousK-5624.55
Leukemia_promyelocytic-HL-604.4
Leukemialymphoblastic(MOLT-4)4.05
Liver6.85
Lung8.45
Lymphnode4.5
Lymphoma_burkitts(Daudi)6.4
Lymphoma_burkitts(Raji)7.2
MedullaOblongata4.45
OccipitalLobe4.5
OlfactoryBulb113.85
Ovary3.45
Pancreas4.1
PancreaticIslet5.35
ParietalLobe5.35
Pituitary5.9
Placenta48
Pons4.85
PrefrontalCortex6.3
Prostate16.5
Salivarygland4.5
SkeletalMuscle6.35
Skin43
SmoothMuscle43.2
Spinalcord6.7
SubthalamicNucleus5.05
SuperiorCervicalGanglion6.2
TemporalLobe4.7
Testis37.3
TestisGermCell134.6
TestisIntersitial31.6
TestisLeydigCell13.1
TestisSeminiferousTubule30.2
Thalamus5.25
Thymus4.8
Thyroid41.9
Tongue11.75
Tonsil5
Trachea8.05
TrigeminalGanglion5.55
Uterus18.3
UterusCorpus5.2
WholeBlood5.25
Wholebrain4.25
colon5.2
pineal_day6.3
pineal_night6.2
retina7.475
small_intestine5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8217_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
Amygdala5.8 ± 0.51
Basal Forebrain5.45 ± 0.27
Basal Part of Pons4.97 ± 0.34
Cerebellar Cortex5.14 ± 0.37
Cerebellar Nuclei5.86 ± 0.49
Claustrum5.58 ± 0.55
Epithalamus5.46 ± 0.57
Frontal Lobe5.37 ± 0.41
Globus Pallidus5.92 ± 0.36
Hypothalamus5.11 ± 0.28
Insula5.55 ± 0.46
Limbic Lobe5.55 ± 0.51
Mesencephalon5.53 ± 0.49
Myelencephalon5.52 ± 0.48
Occipital Lobe5.49 ± 0.58
Parietal Lobe5.26 ± 0.41
Pontine Tegmentum5.49 ± 0.43
Striatum5.92 ± 0.36
Subthalamus5.06 ± 0.11
Temporal Lobe5.52 ± 0.46
Thalamus5.52 ± 0.39
White Matter4.91 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Fbln2CBCerebellum7.42
9.09
Fbln2CTXCerebral cortex10.81
4.41
Fbln2HIPHippocampal region9.46
9.92
Fbln2HPFHippocampal formation11.26
9.01
Fbln2HYHypothalamus1.49
1.09
Fbln2LSXLateral septal complex3.25
2.02
Fbln2MBMidbrain2.12
1.53
Fbln2MYMedulla6.11
4.98
Fbln2OLFOlfactory bulb19.16
13.13
Fbln2PPons4.45
3.24
Fbln2PALPallidum1.35
0.8
Fbln2RHPRetrohippocampal region12.45
6.31
Fbln2sAMYStriatum-like amygdalar nuclei3.13
1.34
Fbln2STRStriatum1.77
0.91
Fbln2STRdStriatum dorsal region1.28
0.71
Fbln2STRvStriatum ventral region2.11
0.9
Fbln2THThalamus1.12
0.85
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00136823 10 566 575 RPPEPAAAPR 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