AutismKB 2.0

Annotation Detail for BBS1


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Basic Information Top
Gene Symbol:BBS1 ( BBS2L2,FLJ23590,MGC126183,MGC126184,MGC51114 )
Gene Full Name: Bardet-Biedl syndrome 1
Band: 11q13.2
Quick LinksEntrez ID:582; OMIM: 209901; Uniprot ID:BBS1_HUMAN; ENSEMBL ID: ENSG00000174483; HGNC ID: 966
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 body3 / 7076142
blastocyst4 / 6231964
fetus69 / 564012122
neonate2 / 3109764
infant0 / 236200 
juvenile1 / 5555617
adult158 / 193912181
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) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor34 / 263845128
glioma12 / 106883112
head and neck tumor20 / 136302146
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal367 / 3360307109
ovarian tumor6 / 7668278
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone2 / 7165527
bone marrow0 / 488010 
brain219 / 1100989198
cervix5 / 48171103
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue10 / 21572246
esophagus1 / 2020949
eye20 / 21105494
heart1 / 8962611
intestine7 / 23447229
kidney12 / 21177756
larynx0 / 241450 
liver2 / 2077439
lung23 / 33697468
lymph0 / 442700 
lymph node4 / 9161043
mammary gland6 / 15327139
mouth18 / 67052268
muscle4 / 10771537
nerve0 / 157680 
ovary7 / 10205168
pancreas24 / 214812111
parathyroid7 / 20539340
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta12 / 28082542
prostate10 / 18934552
salivary gland0 / 201550 
skin6 / 21057428
spleen1 / 5395218
stomach3 / 9661931
testis71 / 330442214
thymus13 / 81131160
thyroid2 / 4747342
tonsil0 / 169990 
trachea27 / 52413515
umbilical cord2 / 13680146
uterus20 / 23287885
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218471_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts34.9
Adipocyte118.75
AdrenalCortex120.45
Adrenalgland133.1
Amygdala150.75
Appendix119.75
AtrioventricularNode94.95
BDCA4+_DentriticCells73.7
Bonemarrow99.1
BronchialEpithelialCells80.7
CD105+_Endothelial89.05
CD14+_Monocytes33.15
CD19+_BCells(neg._sel.)100.25
CD33+_Myeloid108.9
CD34+108.95
CD4+_Tcells81.05
CD56+_NKCells109.95
CD71+_EarlyErythroid60.65
CD8+_Tcells85.25
CardiacMyocytes130.4
Caudatenucleus183.55
Cerebellum182.6
CerebellumPeduncles164.35
CiliaryGanglion96.5
CingulateCortex123.15
Colorectaladenocarcinoma93.9
DorsalRootGanglion90.3
FetalThyroid220.2
Fetalbrain129.95
Fetalliver85.7
Fetallung107
GlobusPallidus86.85
Heart122.25
Hypothalamus207.2
Kidney236.2
Leukemia_chronicMyelogenousK-56286.35
Leukemia_promyelocytic-HL-6064.85
Leukemialymphoblastic(MOLT-4)67.85
Liver117.1
Lung211.3
Lymphnode84.3
Lymphoma_burkitts(Daudi)111.9
Lymphoma_burkitts(Raji)95.75
MedullaOblongata112.4
OccipitalLobe113.5
OlfactoryBulb105.55
Ovary90.5
Pancreas89.35
PancreaticIslet141.6
ParietalLobe124.05
Pituitary236.35
Placenta127.1
Pons116.45
PrefrontalCortex297.05
Prostate142.75
Salivarygland100.25
SkeletalMuscle130.7
Skin79.65
SmoothMuscle84.85
Spinalcord137.5
SubthalamicNucleus107.2
SuperiorCervicalGanglion132.2
TemporalLobe123.75
Testis133.7
TestisGermCell102.25
TestisIntersitial123.45
TestisLeydigCell117.65
TestisSeminiferousTubule103.5
Thalamus122.1
Thymus104.65
Thyroid398.35
Tongue85.85
Tonsil82.65
Trachea101
TrigeminalGanglion110.35
Uterus134.35
UterusCorpus107.8
WholeBlood79.85
Wholebrain162.05
colon123.75
pineal_day382.98
pineal_night324.62
retina371.9
small_intestine117.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P150267
  • 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
Amygdala7.44 ± 0.27
Basal Forebrain7.43 ± 0.22
Basal Part of Pons7.73 ± 0.47
Cerebellar Cortex7.54 ± 0.2
Cerebellar Nuclei7.41 ± 0.3
Claustrum6.92 ± 0.53
Epithalamus8.18 ± 0.5
Frontal Lobe7.47 ± 0.34
Globus Pallidus6.97 ± 0.32
Hypothalamus7.53 ± 0.28
Insula7.6 ± 0.23
Limbic Lobe7.22 ± 0.48
Mesencephalon7.29 ± 0.47
Myelencephalon7.41 ± 0.45
Occipital Lobe7.62 ± 0.34
Parietal Lobe7.59 ± 0.39
Pontine Tegmentum7.41 ± 0.32
Striatum7.57 ± 0.38
Subthalamus7.38 ± 0.07
Temporal Lobe7.38 ± 0.34
Thalamus7.44 ± 0.38
White Matter5.59 ± 0.52
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bbs1CBCerebellum2.53
2.47
Bbs1CTXCerebral cortex5.08
3.62
Bbs1HIPHippocampal region5.6
4.85
Bbs1HPFHippocampal formation4.65
3.67
Bbs1HYHypothalamus0.98
0.79
Bbs1LSXLateral septal complex5.07
5.36
Bbs1MBMidbrain1.09
1.19
Bbs1MYMedulla2.23
2.22
Bbs1OLFOlfactory bulb7.13
6.14
Bbs1PPons1.26
1.38
Bbs1PALPallidum0.32
0.38
Bbs1RHPRetrohippocampal region3.06
2.04
Bbs1sAMYStriatum-like amygdalar nuclei0.5
0.3
Bbs1STRStriatum0.97
0.83
Bbs1STRdStriatum dorsal region0.52
0.42
Bbs1STRvStriatum ventral region0.75
0.46
Bbs1THThalamus1.81
1.42
Peptide Top

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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