AutismKB 2.0

Annotation Detail for DBNDD2


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Basic Information Top
Gene Symbol:DBNDD2 ( C20orf35,CK1BP,HSMNP1 )
Gene Full Name: dysbindin (dystrobrevin binding protein 1) domain containing 2
Band: 20q13.12
Quick LinksEntrez ID:55861; OMIM: 611453; Uniprot ID:DBND2_HUMAN; ENSEMBL ID: ENSG00000204070,ENSG00000244274; HGNC ID: 15881
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 body7 / 7076198
blastocyst1 / 6231916
fetus58 / 564012102
neonate2 / 3109764
infant1 / 2362042
juvenile4 / 5555671
adult284 / 1939121146
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor8 / 9417884
cervical tumor5 / 34366145
chondrosarcoma9 / 82823108
colorectal tumor23 / 114246201
esophageal tumor3 / 17290173
gastrointestinal tumor23 / 119369192
germ cell tumor23 / 26384587
glioma21 / 106883196
head and neck tumor11 / 13630280
kidney tumor5 / 6895972
leukemia12 / 95842125
liver tumor5 / 9635951
lung tumor10 / 10312796
lymphoma4 / 7175555
non-neoplasia10 / 97250102
normal459 / 3360307136
ovarian tumor11 / 76682143
pancreatic tumor23 / 104616219
primitive neuroectodermal tumor of the CNS18 / 125680143
prostate cancer3 / 10268029
retinoblastoma3 / 4635664
skin tumor7 / 12494956
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue4 / 13106305
adrenal gland3 / 3319790
ascites5 / 40015124
bladder1 / 2975733
blood20 / 123478161
bone6 / 7165583
bone marrow5 / 48801102
brain203 / 1100989184
cervix7 / 48171145
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus3 / 20209148
eye38 / 211054180
heart20 / 89626223
intestine53 / 234472226
kidney23 / 211777108
larynx2 / 2414582
liver15 / 20774372
lung40 / 336974118
lymph0 / 442700 
lymph node12 / 91610130
mammary gland10 / 15327165
mouth5 / 6705274
muscle11 / 107715102
nerve6 / 15768380
ovary15 / 102051146
pancreas28 / 214812130
parathyroid4 / 20539194
pharynx8 / 41328193
pituitary gland2 / 16585120
placenta35 / 280825124
prostate13 / 18934568
salivary gland0 / 201550 
skin13 / 21057461
spleen1 / 5395218
stomach14 / 96619144
testis29 / 33044287
thymus6 / 8113173
thyroid9 / 47473189
tonsil4 / 16999235
trachea1 / 5241319
umbilical cord0 / 136800 
uterus23 / 23287898
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218094_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.9
Adipocyte11.95
AdrenalCortex13.3
Adrenalgland12.05
Amygdala945.95
Appendix25.3
AtrioventricularNode12.55
BDCA4+_DentriticCells34.7
Bonemarrow12.8
BronchialEpithelialCells32.45
CD105+_Endothelial10.5
CD14+_Monocytes17.65
CD19+_BCells(neg._sel.)7.7
CD33+_Myeloid20.8
CD34+20.5
CD4+_Tcells13.8
CD56+_NKCells29.2
CD71+_EarlyErythroid13.6
CD8+_Tcells10.4
CardiacMyocytes16.9
Caudatenucleus1050.95
Cerebellum647.15
CerebellumPeduncles833.6
CiliaryGanglion14.25
CingulateCortex744.25
Colorectaladenocarcinoma79
DorsalRootGanglion12.5
FetalThyroid16.3
Fetalbrain18.85
Fetalliver9.65
Fetallung16.5
GlobusPallidus130.95
Heart810.15
Hypothalamus2256.3
Kidney13.1
Leukemia_chronicMyelogenousK-56216
Leukemia_promyelocytic-HL-6010.4
Leukemialymphoblastic(MOLT-4)18.85
Liver14.8
Lung119.25
Lymphnode14.4
Lymphoma_burkitts(Daudi)16.9
Lymphoma_burkitts(Raji)15.7
MedullaOblongata1664.7
OccipitalLobe1654.95
OlfactoryBulb158.4
Ovary10.45
Pancreas15.65
PancreaticIslet38.45
ParietalLobe1999.9
Pituitary24.95
Placenta28.4
Pons614.7
PrefrontalCortex1733.45
Prostate24.95
Salivarygland14.3
SkeletalMuscle34.75
Skin12.9
SmoothMuscle9.35
Spinalcord2160.5
SubthalamicNucleus320.8
SuperiorCervicalGanglion19.55
TemporalLobe241.85
Testis16.15
TestisGermCell15.65
TestisIntersitial11
TestisLeydigCell15.35
TestisSeminiferousTubule13.4
Thalamus1716.1
Thymus13.4
Thyroid22.75
Tongue28.25
Tonsil15.25
Trachea17
TrigeminalGanglion16.7
Uterus75.5
UterusCorpus16.1
WholeBlood14.9
Wholebrain1400.95
colon63
pineal_day33.26
pineal_night34.92
retina1178.325
small_intestine66.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P28772
  • 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
Amygdala9.55 ± 0.62
Basal Forebrain10.87 ± 0.53
Basal Part of Pons10.9 ± 0.71
Cerebellar Cortex10.34 ± 0.28
Cerebellar Nuclei11.77 ± 0.53
Claustrum9.83 ± 0.62
Epithalamus10.16 ± 0.89
Frontal Lobe10.62 ± 0.79
Globus Pallidus12.15 ± 0.29
Hypothalamus10.37 ± 0.42
Insula10.03 ± 0.48
Limbic Lobe10.02 ± 0.58
Mesencephalon10.63 ± 0.88
Myelencephalon10.6 ± 0.69
Occipital Lobe10.34 ± 0.68
Parietal Lobe10.43 ± 0.76
Pontine Tegmentum10.63 ± 0.54
Striatum10.9 ± 0.63
Subthalamus11.09 ± 0.34
Temporal Lobe10.35 ± 0.61
Thalamus11.07 ± 0.47
White Matter13.32 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Dbndd2CBCerebellum83.16
100
Dbndd2CTXCerebral cortex100
100
Dbndd2HIPHippocampal region100
100
Dbndd2HPFHippocampal formation100
100
Dbndd2HYHypothalamus82.98
79.57
Dbndd2LSXLateral septal complex84.99
83.84
Dbndd2MBMidbrain100
100
Dbndd2MYMedulla91.92
100
Dbndd2OLFOlfactory bulb88.18
95.27
Dbndd2PPons100
100
Dbndd2PALPallidum82.9
82.04
Dbndd2RHPRetrohippocampal region100
100
Dbndd2sAMYStriatum-like amygdalar nuclei83.64
81.58
Dbndd2STRStriatum100
100
Dbndd2STRdStriatum dorsal region100
100
Dbndd2STRvStriatum ventral region92.79
89.16
Dbndd2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00504127 36 115 150 TSSSSSSDSSTNLHSPNPSDDGADTPLAQSDEEEER 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


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