AutismKB 2.0

Annotation Detail for BBS5


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Basic Information Top
Gene Symbol:BBS5 ( - )
Gene Full Name: Bardet-Biedl syndrome 5
Band: 2q31.1
Quick LinksEntrez ID:129880; OMIM: 603650; Uniprot ID:BBS5_HUMAN; ENSEMBL ID: ENSG00000163093,ENSG00000251569; HGNC ID: 970
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
blastocyst1 / 6231916
fetus10 / 56401217
neonate0 / 310970 
infant2 / 2362084
juvenile0 / 555560 
adult15 / 19391217
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 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor8 / 26384530
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal48 / 336030714
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow1 / 4880120
brain16 / 110098914
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye6 / 21105428
heart1 / 8962611
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis10 / 33044230
thymus1 / 8113112
thyroid1 / 4747321
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: A_23_P5785
  • 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
Amygdala7.05 ± 0.36
Basal Forebrain6.84 ± 0.07
Basal Part of Pons7.08 ± 0.3
Cerebellar Cortex6.83 ± 0.25
Cerebellar Nuclei6.82 ± 0.35
Claustrum7 ± 0.32
Epithalamus7.56 ± 0.65
Frontal Lobe7 ± 0.3
Globus Pallidus6.88 ± 0.33
Hypothalamus6.9 ± 0.18
Insula7.15 ± 0.34
Limbic Lobe7.21 ± 0.28
Mesencephalon7.04 ± 0.34
Myelencephalon7.01 ± 0.37
Occipital Lobe7.21 ± 0.34
Parietal Lobe7.12 ± 0.27
Pontine Tegmentum7.01 ± 0.29
Striatum7.1 ± 0.35
Subthalamus6.86 ± 0.17
Temporal Lobe7.06 ± 0.27
Thalamus6.96 ± 0.22
White Matter6.5 ± 0.59
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bbs5CBCerebellum5.73
6.35
Bbs5CTXCerebral cortex12.34
8.06
Bbs5HIPHippocampal region5.97
5.42
Bbs5HPFHippocampal formation5.29
4.3
Bbs5HYHypothalamus5.92
4.37
Bbs5LSXLateral septal complex8.13
4.63
Bbs5MBMidbrain8.32
7.02
Bbs5MYMedulla8.92
8.68
Bbs5OLFOlfactory bulb20.14
15.09
Bbs5PPons12.43
12.99
Bbs5PALPallidum4.8
3.43
Bbs5RHPRetrohippocampal region3.96
2.61
Bbs5sAMYStriatum-like amygdalar nuclei4.67
2.75
Bbs5STRStriatum5.29
3.42
Bbs5STRdStriatum dorsal region3.49
2.49
Bbs5STRvStriatum ventral region10.55
6.11
Bbs5THThalamus7.46
5.48
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