AutismKB 2.0

Annotation Detail for FBN1


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Basic Information Top
Gene Symbol:FBN1 ( FBN,MASS,MFS1,OCTD,SGS,SSKS,WMS )
Gene Full Name: fibrillin 1
Band: 15q21.1
Quick LinksEntrez ID:2200; OMIM: 134797; Uniprot ID:FBN1_HUMAN; ENSEMBL ID: ENSG00000166147; HGNC ID: 3603
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 body19 / 70761268
blastocyst3 / 6231948
fetus77 / 564012136
neonate3 / 3109796
infant0 / 236200 
juvenile3 / 5555653
adult239 / 1939121123
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma26 / 82823313
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor51 / 119369427
germ cell tumor7 / 26384526
glioma3 / 10688328
head and neck tumor6 / 13630244
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor4 / 9635941
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia8 / 9725082
normal329 / 336030797
ovarian tumor2 / 7668226
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland1 / 3319730
ascites21 / 40015524
bladder2 / 2975767
blood0 / 1234780 
bone27 / 71655376
bone marrow1 / 4880120
brain21 / 110098919
cervix0 / 481710 
connective tissue38 / 149255254
ear2 / 16212123
embryonic tissue31 / 215722143
esophagus1 / 2020949
eye16 / 21105475
heart22 / 89626245
intestine12 / 23447251
kidney11 / 21177751
larynx2 / 2414582
liver11 / 20774352
lung13 / 33697438
lymph0 / 442700 
lymph node2 / 9161021
mammary gland5 / 15327132
mouth3 / 6705244
muscle13 / 107715120
nerve3 / 15768190
ovary2 / 10205119
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta65 / 280825231
prostate7 / 18934536
salivary gland1 / 2015549
skin17 / 21057480
spleen1 / 5395218
stomach30 / 96619310
testis5 / 33044215
thymus5 / 8113161
thyroid1 / 4747321
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord2 / 13680146
uterus21 / 23287890
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202766_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.45
Adipocyte458.7
AdrenalCortex12.25
Adrenalgland9.1
Amygdala8.85
Appendix129.5
AtrioventricularNode16.15
BDCA4+_DentriticCells7.8
Bonemarrow10.65
BronchialEpithelialCells7.7
CD105+_Endothelial47.35
CD14+_Monocytes9.55
CD19+_BCells(neg._sel.)8.05
CD33+_Myeloid9.55
CD34+12.45
CD4+_Tcells7.85
CD56+_NKCells8.7
CD71+_EarlyErythroid7.4
CD8+_Tcells6.9
CardiacMyocytes325.8
Caudatenucleus8.75
Cerebellum7.05
CerebellumPeduncles10.15
CiliaryGanglion26.8
CingulateCortex10.1
Colorectaladenocarcinoma8.7
DorsalRootGanglion12.6
FetalThyroid240.6
Fetalbrain8.8
Fetalliver12.45
Fetallung200.75
GlobusPallidus6.95
Heart15
Hypothalamus12.6
Kidney8.55
Leukemia_chronicMyelogenousK-5627.2
Leukemia_promyelocytic-HL-608.55
Leukemialymphoblastic(MOLT-4)7.85
Liver13.05
Lung18.5
Lymphnode53.65
Lymphoma_burkitts(Daudi)10.95
Lymphoma_burkitts(Raji)12.8
MedullaOblongata7.15
OccipitalLobe9.05
OlfactoryBulb31.85
Ovary32.75
Pancreas11.05
PancreaticIslet12.2
ParietalLobe11.15
Pituitary13.25
Placenta558.65
Pons9
PrefrontalCortex11.65
Prostate23.7
Salivarygland11
SkeletalMuscle16.55
Skin14.95
SmoothMuscle981.7
Spinalcord11.45
SubthalamicNucleus9.05
SuperiorCervicalGanglion21.95
TemporalLobe8.6
Testis9.95
TestisGermCell93.5
TestisIntersitial25.05
TestisLeydigCell26.35
TestisSeminiferousTubule19.7
Thalamus10.3
Thymus32.8
Thyroid251.4
Tongue30.3
Tonsil10.1
Trachea40.75
TrigeminalGanglion12.6
Uterus194.9
UterusCorpus89
WholeBlood8.75
Wholebrain6.2
colon73.95
pineal_day11.68
pineal_night12.08
retina47.525
small_intestine101.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P679997
  • 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
Amygdala2.31 ± 0.96
Basal Forebrain1.92 ± 0.21
Basal Part of Pons1.52 ± 0.33
Cerebellar Cortex1.72 ± 0.68
Cerebellar Nuclei2.25 ± 0.63
Claustrum2.78 ± 0.87
Epithalamus1.6 ± 0.72
Frontal Lobe1.73 ± 0.61
Globus Pallidus2.47 ± 0.31
Hypothalamus1.94 ± 0.64
Insula1.81 ± 0.53
Limbic Lobe1.86 ± 0.58
Mesencephalon2.08 ± 0.68
Myelencephalon1.93 ± 0.64
Occipital Lobe1.91 ± 0.59
Parietal Lobe1.93 ± 0.68
Pontine Tegmentum1.95 ± 0.68
Striatum2.12 ± 0.6
Subthalamus2.08 ± 0.66
Temporal Lobe1.78 ± 0.61
Thalamus1.84 ± 0.54
White Matter2.5 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Fbn1CBCerebellum0.88
1.45
Fbn1CTXCerebral cortex1.1
0.93
Fbn1HIPHippocampal region4.23
3.81
Fbn1HPFHippocampal formation3.29
2.82
Fbn1HYHypothalamus0.23
0.21
Fbn1LSXLateral septal complex0.08
0.22
Fbn1MBMidbrain0.47
0.55
Fbn1MYMedulla1.12
1.72
Fbn1OLFOlfactory bulb2.09
1.58
Fbn1PPons0.93
1.04
Fbn1PALPallidum0.21
0.18
Fbn1RHPRetrohippocampal region1.69
1.33
Fbn1sAMYStriatum-like amygdalar nuclei0.17
0.28
Fbn1STRStriatum0.14
0.12
Fbn1STRdStriatum dorsal region0.17
0.13
Fbn1STRvStriatum ventral region0.01
0
Fbn1THThalamus0.29
0.29
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009622 8 2232 2239 CPVGYVLR 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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