AutismKB 2.0

Annotation Detail for BEND3


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Basic Information Top
Gene Symbol:BEND3 ( KIAA1553,RP11-59I9.2 )
Gene Full Name: BEN domain containing 3
Band: 6q21
Quick LinksEntrez ID:57673; OMIM: NA; Uniprot ID:BEND3_HUMAN; ENSEMBL ID: ENSG00000178409; HGNC ID: 23040
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 body1 / 7076114
blastocyst5 / 6231980
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult17 / 19391218
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 tumor1 / 1193698
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal28 / 33603078
ovarian tumor3 / 7668239
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
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 gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine4 / 23447217
kidney0 / 2117770 
larynx0 / 241450 
liver5 / 20774324
lung13 / 33697438
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
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_P359854
  • 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
Amygdala4.15 ± 0.6
Basal Forebrain3.81 ± 0.54
Basal Part of Pons3.93 ± 0.39
Cerebellar Cortex4.62 ± 0.26
Cerebellar Nuclei3.77 ± 0.55
Claustrum4.14 ± 0.74
Epithalamus4.59 ± 0.58
Frontal Lobe4.16 ± 0.46
Globus Pallidus3.73 ± 0.42
Hypothalamus3.93 ± 0.48
Insula4.48 ± 0.41
Limbic Lobe4.07 ± 0.53
Mesencephalon4.07 ± 0.49
Myelencephalon4.04 ± 0.55
Occipital Lobe3.94 ± 0.51
Parietal Lobe4.09 ± 0.43
Pontine Tegmentum4.06 ± 0.57
Striatum3.34 ± 0.61
Subthalamus4 ± 0.57
Temporal Lobe4.07 ± 0.44
Thalamus4.14 ± 0.52
White Matter3.86 ± 0.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AK122525CBCerebellum0.51
0.74
AK122525CTXCerebral cortex0.48
0.45
AK122525HIPHippocampal region0.43
0.41
AK122525HPFHippocampal formation0.33
0.33
AK122525HYHypothalamus0.35
0.26
AK122525LSXLateral septal complex0
0
AK122525MBMidbrain0.42
0.47
AK122525MYMedulla2.92
3.25
AK122525OLFOlfactory bulb1.6
1.22
AK122525PPons1.5
1.53
AK122525PALPallidum0.1
0.09
AK122525RHPRetrohippocampal region0.15
0.16
AK122525sAMYStriatum-like amygdalar nuclei0.14
0.12
AK122525STRStriatum0.2
0.16
AK122525STRdStriatum dorsal region0.11
0.09
AK122525STRvStriatum ventral region0.71
0.51
AK122525THThalamus0.3
0.43
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00506018 11 782 792 HYVEAVYPVEK 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