AutismKB 2.0

Annotation Detail for BBS9


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Basic Information Top
Gene Symbol:BBS9 ( B1,C18,D1,MGC118917,PTHB1 )
Gene Full Name: Bardet-Biedl syndrome 9
Band: 7p14.3
Quick LinksEntrez ID:27241; OMIM: 607968; Uniprot ID:PTHB1_HUMAN; ENSEMBL ID: ENSG00000122507; HGNC ID: 30000
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 body2 / 7076128
blastocyst0 / 623190 
fetus34 / 56401260
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult52 / 193912126
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) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor20 / 26384575
glioma3 / 10688328
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor4 / 9635941
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal138 / 336030741
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain46 / 110098941
cervix1 / 4817120
connective tissue5 / 14925533
ear1 / 1621261
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye10 / 21105447
heart6 / 8962666
intestine0 / 2344720 
kidney7 / 21177733
larynx1 / 2414541
liver5 / 20774324
lung8 / 33697423
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle8 / 10771574
nerve0 / 157680 
ovary0 / 1020510 
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta4 / 28082514
prostate2 / 18934510
salivary gland0 / 201550 
skin2 / 2105749
spleen2 / 5395237
stomach0 / 966190 
testis53 / 330442160
thymus8 / 8113198
thyroid1 / 4747321
tonsil0 / 169990 
trachea15 / 52413286
umbilical cord0 / 136800 
uterus13 / 23287855
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209958_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.7
Adipocyte4.55
AdrenalCortex4.8
Adrenalgland4
Amygdala4.85
Appendix4.6
AtrioventricularNode3.95
BDCA4+_DentriticCells5.2
Bonemarrow4.55
BronchialEpithelialCells4.5
CD105+_Endothelial4.6
CD14+_Monocytes4.9
CD19+_BCells(neg._sel.)5.65
CD33+_Myeloid5.85
CD34+5.8
CD4+_Tcells5.5
CD56+_NKCells8.95
CD71+_EarlyErythroid4.3
CD8+_Tcells4.75
CardiacMyocytes6.6
Caudatenucleus4.1
Cerebellum3.75
CerebellumPeduncles5.2
CiliaryGanglion3.5
CingulateCortex4.65
Colorectaladenocarcinoma4.55
DorsalRootGanglion3.8
FetalThyroid7.05
Fetalbrain6
Fetalliver4.05
Fetallung4.55
GlobusPallidus3.45
Heart6.45
Hypothalamus5
Kidney3.95
Leukemia_chronicMyelogenousK-5624.15
Leukemia_promyelocytic-HL-604.05
Leukemialymphoblastic(MOLT-4)3.7
Liver6.2
Lung5.05
Lymphnode4.15
Lymphoma_burkitts(Daudi)5.9
Lymphoma_burkitts(Raji)6.45
MedullaOblongata4.6
OccipitalLobe4.15
OlfactoryBulb3.65
Ovary3.05
Pancreas3.7
PancreaticIslet4.95
ParietalLobe4.85
Pituitary9.9
Placenta4.7
Pons4.45
PrefrontalCortex5.7
Prostate5.35
Salivarygland3.6
SkeletalMuscle5.3
Skin3.5
SmoothMuscle5.4
Spinalcord5.45
SubthalamicNucleus4.25
SuperiorCervicalGanglion5.1
TemporalLobe4.15
Testis8.95
TestisGermCell6.55
TestisIntersitial6.3
TestisLeydigCell8.7
TestisSeminiferousTubule5.7
Thalamus4.6
Thymus3.9
Thyroid7.1
Tongue4.4
Tonsil4.45
Trachea3.85
TrigeminalGanglion4.55
Uterus3.85
UterusCorpus4.3
WholeBlood5
Wholebrain3.85
colon4.6
pineal_day6.32
pineal_night5.9
retina6.925
small_intestine4.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9548_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
Amygdala4.04 ± 0.5
Basal Forebrain4.2 ± 0.55
Basal Part of Pons4.29 ± 0.29
Cerebellar Cortex4.26 ± 0.5
Cerebellar Nuclei4.32 ± 0.34
Claustrum3.76 ± 0.72
Epithalamus5.06 ± 0.49
Frontal Lobe4.25 ± 0.54
Globus Pallidus4.73 ± 0.51
Hypothalamus4.51 ± 0.47
Insula3.98 ± 0.29
Limbic Lobe4.03 ± 0.53
Mesencephalon4.27 ± 0.56
Myelencephalon4.21 ± 0.57
Occipital Lobe3.98 ± 0.5
Parietal Lobe4.04 ± 0.59
Pontine Tegmentum4.22 ± 0.59
Striatum4.56 ± 0.45
Subthalamus4.24 ± 0.33
Temporal Lobe4.18 ± 0.53
Thalamus4.38 ± 0.53
White Matter4.87 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
E130103I17RikCBCerebellum32.81
39.28
E130103I17RikCTXCerebral cortex76.57
55
E130103I17RikHIPHippocampal region29.83
35.78
E130103I17RikHPFHippocampal formation37.24
36.46
E130103I17RikHYHypothalamus45.45
37.41
E130103I17RikLSXLateral septal complex30.81
21.14
E130103I17RikMBMidbrain47.43
42.81
E130103I17RikMYMedulla20.59
22.83
E130103I17RikOLFOlfactory bulb46.57
37.73
E130103I17RikPPons37.79
38.87
E130103I17RikPALPallidum32
26.17
E130103I17RikRHPRetrohippocampal region48.73
37.04
E130103I17RiksAMYStriatum-like amygdalar nuclei58.8
42.07
E130103I17RikSTRStriatum56.12
39.2
E130103I17RikSTRdStriatum dorsal region56.61
39.78
E130103I17RikSTRvStriatum ventral region60.76
40.44
E130103I17RikTHThalamus66.77
59.33
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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