AutismKB 2.0

Annotation Detail for BBS7


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BBS7 ( BBS2L1,FLJ10715 )
Gene Full Name: Bardet-Biedl syndrome 7
Band: 4q27
Quick LinksEntrez ID:55212; OMIM: 607590; Uniprot ID:BBS7_HUMAN; ENSEMBL ID: ENSG00000138686; HGNC ID: 18758
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 
blastocyst0 / 623190 
fetus17 / 56401230
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult35 / 193912118
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 tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor8 / 26384530
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal69 / 336030720
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor6 / 9025766
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 
brain34 / 110098930
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye5 / 21105423
heart5 / 8962655
intestine2 / 2344728
kidney3 / 21177714
larynx1 / 2414541
liver3 / 20774314
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth1 / 6705214
muscle9 / 10771583
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate4 / 18934521
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach0 / 966190 
testis12 / 33044236
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219688_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.25
Adipocyte5.95
AdrenalCortex7.15
Adrenalgland5.35
Amygdala6.1
Appendix8
AtrioventricularNode6.95
BDCA4+_DentriticCells5.85
Bonemarrow6.45
BronchialEpithelialCells5.65
CD105+_Endothelial5.95
CD14+_Monocytes6.3
CD19+_BCells(neg._sel.)6.1
CD33+_Myeloid7.4
CD34+7.05
CD4+_Tcells6.15
CD56+_NKCells6.75
CD71+_EarlyErythroid5.75
CD8+_Tcells5.45
CardiacMyocytes10.5
Caudatenucleus5.35
Cerebellum4.9
CerebellumPeduncles7.2
CiliaryGanglion5.2
CingulateCortex6.3
Colorectaladenocarcinoma5.95
DorsalRootGanglion5.35
FetalThyroid6
Fetalbrain6
Fetalliver5.35
Fetallung4.4
GlobusPallidus4.75
Heart9.8
Hypothalamus6.35
Kidney5.35
Leukemia_chronicMyelogenousK-5625.35
Leukemia_promyelocytic-HL-605.3
Leukemialymphoblastic(MOLT-4)4.5
Liver9.1
Lung6.45
Lymphnode5.05
Lymphoma_burkitts(Daudi)7.95
Lymphoma_burkitts(Raji)9.15
MedullaOblongata5.4
OccipitalLobe5.6
OlfactoryBulb4.55
Ovary4.4
Pancreas5.05
PancreaticIslet6.4
ParietalLobe6.7
Pituitary6.9
Placenta5.95
Pons5.9
PrefrontalCortex7.35
Prostate6.65
Salivarygland5.05
SkeletalMuscle8.25
Skin5.5
SmoothMuscle6.75
Spinalcord6.45
SubthalamicNucleus5.9
SuperiorCervicalGanglion8.8
TemporalLobe5.75
Testis4.95
TestisGermCell4.65
TestisIntersitial5.25
TestisLeydigCell6.2
TestisSeminiferousTubule5.15
Thalamus6.3
Thymus4.4
Thyroid7.3
Tongue6.6
Tonsil5.9
Trachea4.95
TrigeminalGanglion6.95
Uterus4.8
UterusCorpus6
WholeBlood6.4
Wholebrain4.8
colon6.05
pineal_day8
pineal_night8.24
retina7.075
small_intestine5.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12442_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
Amygdala7.75 ± 0.26
Basal Forebrain7.52 ± 0.24
Basal Part of Pons8.37 ± 0.3
Cerebellar Cortex7.92 ± 0.3
Cerebellar Nuclei7.57 ± 0.46
Claustrum7.99 ± 0.43
Epithalamus7.77 ± 0.45
Frontal Lobe7.89 ± 0.39
Globus Pallidus6.94 ± 0.28
Hypothalamus7.5 ± 0.36
Insula7.76 ± 0.24
Limbic Lobe8.1 ± 0.38
Mesencephalon7.8 ± 0.43
Myelencephalon7.87 ± 0.42
Occipital Lobe8.43 ± 0.36
Parietal Lobe8.05 ± 0.34
Pontine Tegmentum7.8 ± 0.33
Striatum7.63 ± 0.32
Subthalamus7.96 ± 0.18
Temporal Lobe7.85 ± 0.31
Thalamus8.15 ± 0.34
White Matter7.37 ± 0.41
Mouse Brain ISH
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