AutismKB 2.0

Annotation Detail for FBLN1


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Basic Information Top
Gene Symbol:FBLN1 ( FBLN,FIBL1 )
Gene Full Name: fibulin 1
Band: 22q13.31
Quick LinksEntrez ID:2192; OMIM: 135820; Uniprot ID:FBLN1_HUMAN; ENSEMBL ID: ENSG00000077942; HGNC ID: 3600
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 body16 / 70761226
blastocyst4 / 6231964
fetus86 / 564012152
neonate1 / 3109732
infant1 / 2362042
juvenile9 / 55556161
adult1018 / 1939121524
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor12 / 94178127
cervical tumor4 / 34366116
chondrosarcoma18 / 82823217
colorectal tumor13 / 114246113
esophageal tumor2 / 17290115
gastrointestinal tumor18 / 119369150
germ cell tumor86 / 263845325
glioma5 / 10688346
head and neck tumor18 / 136302132
kidney tumor0 / 689590 
leukemia4 / 9584241
liver tumor5 / 9635951
lung tumor8 / 10312777
lymphoma0 / 717550 
non-neoplasia9 / 9725092
normal1203 / 3360307358
ovarian tumor11 / 76682143
pancreatic tumor15 / 104616143
primitive neuroectodermal tumor of the CNS41 / 125680326
prostate cancer5 / 10268048
retinoblastoma6 / 46356129
skin tumor2 / 12494916
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor20 / 90257221
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue5 / 13106381
adrenal gland4 / 33197120
ascites0 / 400150 
bladder11 / 29757369
blood3 / 12347824
bone14 / 71655195
bone marrow3 / 4880161
brain83 / 110098975
cervix13 / 48171269
connective tissue20 / 149255133
ear0 / 162120 
embryonic tissue25 / 215722115
esophagus3 / 20209148
eye41 / 211054194
heart25 / 89626278
intestine78 / 234472332
kidney11 / 21177751
larynx0 / 241450 
liver6 / 20774328
lung46 / 336974136
lymph0 / 442700 
lymph node0 / 916100 
mammary gland21 / 153271137
mouth6 / 6705289
muscle2 / 10771518
nerve3 / 15768190
ovary41 / 102051401
pancreas20 / 21481293
parathyroid5 / 20539243
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta762 / 2808252713
prostate48 / 189345253
salivary gland9 / 20155446
skin22 / 210574104
spleen1 / 5395218
stomach29 / 96619300
testis44 / 330442133
thymus4 / 8113149
thyroid5 / 47473105
tonsil0 / 169990 
trachea11 / 52413209
umbilical cord0 / 136800 
uterus52 / 232878223
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201787_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.8
Adipocyte53.5
AdrenalCortex5.05
Adrenalgland4.3
Amygdala5.45
Appendix5.2
AtrioventricularNode5.55
BDCA4+_DentriticCells5.1
Bonemarrow4.85
BronchialEpithelialCells5
CD105+_Endothelial4.75
CD14+_Monocytes5
CD19+_BCells(neg._sel.)5.05
CD33+_Myeloid5.95
CD34+6
CD4+_Tcells5.2
CD56+_NKCells5.6
CD71+_EarlyErythroid4.55
CD8+_Tcells4.6
CardiacMyocytes6.1
Caudatenucleus4.5
Cerebellum4
CerebellumPeduncles5.6
CiliaryGanglion3.8
CingulateCortex5
Colorectaladenocarcinoma5
DorsalRootGanglion3.95
FetalThyroid4.8
Fetalbrain5
Fetalliver4.25
Fetallung25.8
GlobusPallidus3.55
Heart17.65
Hypothalamus5.65
Kidney4
Leukemia_chronicMyelogenousK-5624.5
Leukemia_promyelocytic-HL-604.35
Leukemialymphoblastic(MOLT-4)3.9
Liver6.45
Lung25.6
Lymphnode4.35
Lymphoma_burkitts(Daudi)6.25
Lymphoma_burkitts(Raji)6.8
MedullaOblongata4.55
OccipitalLobe4.4
OlfactoryBulb5.95
Ovary7.45
Pancreas3.95
PancreaticIslet5.25
ParietalLobe5.15
Pituitary5.8
Placenta447.5
Pons4.7
PrefrontalCortex6.2
Prostate23.85
Salivarygland3.9
SkeletalMuscle5.5
Skin3.85
SmoothMuscle5.75
Spinalcord6.5
SubthalamicNucleus4.45
SuperiorCervicalGanglion5.55
TemporalLobe4.5
Testis4.45
TestisGermCell4.3
TestisIntersitial4.15
TestisLeydigCell4.9
TestisSeminiferousTubule4.25
Thalamus7
Thymus4
Thyroid7.75
Tongue4.75
Tonsil4.8
Trachea12
TrigeminalGanglion5.1
Uterus41.9
UterusCorpus27.1
WholeBlood5.5
Wholebrain4.4
colon5.05
pineal_day6.24
pineal_night23.56
retina26.45
small_intestine4.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P211631
  • 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
Amygdala8.71 ± 0.26
Basal Forebrain9 ± 0.47
Basal Part of Pons7.54 ± 0.47
Cerebellar Cortex8.19 ± 0.28
Cerebellar Nuclei8.81 ± 0.4
Claustrum8.33 ± 0.3
Epithalamus10.01 ± 0.71
Frontal Lobe8.56 ± 0.45
Globus Pallidus9.72 ± 0.44
Hypothalamus8.51 ± 0.53
Insula8.45 ± 0.33
Limbic Lobe8.46 ± 0.53
Mesencephalon8.81 ± 0.38
Myelencephalon8.75 ± 0.54
Occipital Lobe8.9 ± 0.55
Parietal Lobe8.67 ± 0.41
Pontine Tegmentum8.86 ± 0.35
Striatum9.87 ± 0.47
Subthalamus8.47 ± 0.33
Temporal Lobe8.34 ± 0.39
Thalamus8.68 ± 0.41
White Matter8 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Fbln1CBCerebellum17.97
16.48
Fbln1CTXCerebral cortex23.48
12.14
Fbln1HIPHippocampal region16.55
10.82
Fbln1HPFHippocampal formation29.54
19.46
Fbln1HYHypothalamus14.34
8.33
Fbln1LSXLateral septal complex17.38
8.33
Fbln1MBMidbrain21.97
16.5
Fbln1MYMedulla23.41
16.58
Fbln1OLFOlfactory bulb37.15
18.26
Fbln1PPons49.1
34.84
Fbln1PALPallidum15.84
8.76
Fbln1RHPRetrohippocampal region49.52
29.76
Fbln1sAMYStriatum-like amygdalar nuclei18.78
9.25
Fbln1STRStriatum10.37
4.87
Fbln1STRdStriatum dorsal region7.29
3.51
Fbln1STRvStriatum ventral region12.35
5.01
Fbln1THThalamus16.9
11.16
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001548 14 49 62 DCSLPYATESKECR 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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