AutismKB 2.0

Annotation Detail for FBN3


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Basic Information Top
Gene Symbol:FBN3 ( KIAA1776 )
Gene Full Name: fibrillin 3
Band: 19p13.2
Quick LinksEntrez ID:84467; OMIM: 608529; Uniprot ID:FBN3_HUMAN; ENSEMBL ID: ENSG00000142449; HGNC ID: 18794
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 
blastocyst7 / 62319112
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult5 / 19391212
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 tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal19 / 33603075
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain9 / 11009898
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13037_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
Amygdala2.14 ± 1.08
Basal Forebrain1.55 ± 0.23
Basal Part of Pons1.45 ± 0.39
Cerebellar Cortex1.75 ± 0.89
Cerebellar Nuclei2.07 ± 0.66
Claustrum2.74 ± 0.99
Epithalamus1.52 ± 0.73
Frontal Lobe1.71 ± 0.7
Globus Pallidus2.16 ± 0.31
Hypothalamus1.79 ± 0.55
Insula1.74 ± 0.73
Limbic Lobe1.93 ± 0.67
Mesencephalon2.04 ± 0.82
Myelencephalon1.87 ± 0.68
Occipital Lobe1.97 ± 0.72
Parietal Lobe1.88 ± 0.86
Pontine Tegmentum1.84 ± 0.7
Striatum1.84 ± 0.54
Subthalamus2.01 ± 0.63
Temporal Lobe1.72 ± 0.64
Thalamus1.78 ± 0.77
White Matter2.17 ± 0.27
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01081437 13 2538 2550 CQHGCQNQLGGYR 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