AutismKB 2.0

Annotation Detail for FBLN5


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Basic Information Top
Gene Symbol:FBLN5 ( ARMD3,DANCE,EVEC,FIBL-5,FLJ90059,UP50 )
Gene Full Name: fibulin 5
Band: 14q32.12
Quick LinksEntrez ID:10516; OMIM: 604580; Uniprot ID:FBLN5_HUMAN; ENSEMBL ID: ENSG00000140092; HGNC ID: 3602
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 body0 / 707610 
blastocyst0 / 623190 
fetus49 / 56401286
neonate33 / 310971061
infant0 / 236200 
juvenile7 / 55556125
adult171 / 193912188
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) tumor0 / 941780 
cervical tumor4 / 34366116
chondrosarcoma11 / 82823132
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor22 / 26384583
glioma6 / 10688356
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia7 / 9725071
normal520 / 3360307154
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue6 / 13106457
adrenal gland15 / 33197451
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone8 / 71655111
bone marrow0 / 488010 
brain60 / 110098954
cervix6 / 48171124
connective tissue28 / 149255187
ear1 / 1621261
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye11 / 21105452
heart19 / 89626211
intestine23 / 23447298
kidney27 / 211777127
larynx0 / 241450 
liver5 / 20774324
lung46 / 336974136
lymph0 / 442700 
lymph node1 / 9161010
mammary gland6 / 15327139
mouth5 / 6705274
muscle6 / 10771555
nerve6 / 15768380
ovary1 / 1020519
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx5 / 41328120
pituitary gland0 / 165850 
placenta56 / 280825199
prostate20 / 189345105
salivary gland0 / 201550 
skin54 / 210574256
spleen68 / 539521260
stomach7 / 9661972
testis53 / 330442160
thymus8 / 8113198
thyroid1 / 4747321
tonsil0 / 169990 
trachea13 / 52413248
umbilical cord4 / 13680292
uterus84 / 232878360
vascular13 / 51780251
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203088_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.65
Adipocyte285.75
AdrenalCortex8.8
Adrenalgland67.5
Amygdala7.15
Appendix25.2
AtrioventricularNode8.1
BDCA4+_DentriticCells6.8
Bonemarrow8.1
BronchialEpithelialCells6.45
CD105+_Endothelial6.2
CD14+_Monocytes7.15
CD19+_BCells(neg._sel.)6.7
CD33+_Myeloid8.2
CD34+7.85
CD4+_Tcells12.7
CD56+_NKCells7.6
CD71+_EarlyErythroid6.6
CD8+_Tcells7.05
CardiacMyocytes20
Caudatenucleus8.85
Cerebellum6.45
CerebellumPeduncles9
CiliaryGanglion10.25
CingulateCortex7.8
Colorectaladenocarcinoma6.5
DorsalRootGanglion32.5
FetalThyroid19.2
Fetalbrain6.9
Fetalliver6.75
Fetallung63.3
GlobusPallidus5.85
Heart23.3
Hypothalamus8.6
Kidney47.6
Leukemia_chronicMyelogenousK-5626.35
Leukemia_promyelocytic-HL-606.3
Leukemialymphoblastic(MOLT-4)5.6
Liver10.7
Lung98.3
Lymphnode12.9
Lymphoma_burkitts(Daudi)9.85
Lymphoma_burkitts(Raji)10.55
MedullaOblongata7.2
OccipitalLobe6.9
OlfactoryBulb43.6
Ovary13.4
Pancreas6.25
PancreaticIslet14.15
ParietalLobe8.45
Pituitary9.35
Placenta41.2
Pons7.6
PrefrontalCortex9.1
Prostate9.05
Salivarygland9.3
SkeletalMuscle10
Skin6.7
SmoothMuscle21.95
Spinalcord14
SubthalamicNucleus7.15
SuperiorCervicalGanglion9.9
TemporalLobe7.25
Testis12.7
TestisGermCell14.9
TestisIntersitial10.45
TestisLeydigCell9.05
TestisSeminiferousTubule15.6
Thalamus7.55
Thymus38.2
Thyroid10.4
Tongue8.15
Tonsil8.4
Trachea15.95
TrigeminalGanglion8.6
Uterus42.15
UterusCorpus15.05
WholeBlood7.15
Wholebrain5.95
colon10.7
pineal_day9.22
pineal_night14.4
retina31.825
small_intestine45.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P364591
  • 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
Amygdala2.94 ± 0.84
Basal Forebrain2.91 ± 0.64
Basal Part of Pons2.39 ± 0.69
Cerebellar Cortex2.32 ± 0.55
Cerebellar Nuclei2.82 ± 0.58
Claustrum3.45 ± 0.51
Epithalamus3.05 ± 0.51
Frontal Lobe2.75 ± 0.75
Globus Pallidus2.93 ± 0.61
Hypothalamus2.83 ± 0.81
Insula3.02 ± 0.76
Limbic Lobe2.55 ± 0.7
Mesencephalon3.05 ± 0.73
Myelencephalon2.9 ± 0.72
Occipital Lobe2.9 ± 0.48
Parietal Lobe2.63 ± 0.62
Pontine Tegmentum2.66 ± 0.7
Striatum3.6 ± 0.64
Subthalamus2.78 ± 0.37
Temporal Lobe2.72 ± 0.73
Thalamus2.85 ± 0.71
White Matter2.5 ± 0.31
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Fbln5CBCerebellum1.51
1.99
Fbln5CTXCerebral cortex1.02
0.76
Fbln5HIPHippocampal region0.84
0.72
Fbln5HPFHippocampal formation0.84
0.73
Fbln5HYHypothalamus0.07
0.06
Fbln5LSXLateral septal complex0.12
0.09
Fbln5MBMidbrain0.25
0.37
Fbln5MYMedulla1.16
1.46
Fbln5OLFOlfactory bulb1.85
1.51
Fbln5PPons0.53
0.9
Fbln5PALPallidum0.24
0.15
Fbln5RHPRetrohippocampal region0.74
0.64
Fbln5sAMYStriatum-like amygdalar nuclei0.57
0.41
Fbln5STRStriatum0.45
0.39
Fbln5STRdStriatum dorsal region0.62
0.58
Fbln5STRvStriatum ventral region0.04
0.02
Fbln5THThalamus0.2
0.22
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00378099 12 36 47 QSGQCLDIDECR 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