AutismKB 2.0

Annotation Detail for BSDC1


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Basic Information Top
Gene Symbol:BSDC1 ( DKFZp686B09139,FLJ10276 )
Gene Full Name: BSD domain containing 1
Band: 1p35.1
Quick LinksEntrez ID:55108; OMIM: NA; Uniprot ID:BSDC1_HUMAN; ENSEMBL ID: ENSG00000160058; HGNC ID: 25501
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 body11 / 70761155
blastocyst7 / 62319112
fetus155 / 564012274
neonate10 / 31097321
infant0 / 236200 
juvenile8 / 55556143
adult239 / 1939121123
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) tumor21 / 94178222
cervical tumor5 / 34366145
chondrosarcoma8 / 8282396
colorectal tumor9 / 11424678
esophageal tumor4 / 17290231
gastrointestinal tumor11 / 11936992
germ cell tumor85 / 263845322
glioma4 / 10688337
head and neck tumor10 / 13630273
kidney tumor9 / 68959130
leukemia13 / 95842135
liver tumor6 / 9635962
lung tumor3 / 10312729
lymphoma3 / 7175541
non-neoplasia7 / 9725071
normal615 / 3360307183
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS13 / 125680103
prostate cancer1 / 1026809
retinoblastoma8 / 46356172
skin tumor4 / 12494932
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland11 / 33197331
ascites7 / 40015174
bladder4 / 29757134
blood18 / 123478145
bone0 / 716550 
bone marrow6 / 48801122
brain344 / 1100989312
cervix5 / 48171103
connective tissue19 / 149255127
ear2 / 16212123
embryonic tissue26 / 215722120
esophagus4 / 20209197
eye23 / 211054108
heart11 / 89626122
intestine31 / 234472132
kidney24 / 211777113
larynx0 / 241450 
liver12 / 20774357
lung20 / 33697459
lymph3 / 4427067
lymph node6 / 9161065
mammary gland22 / 153271143
mouth14 / 67052208
muscle11 / 107715102
nerve8 / 15768507
ovary3 / 10205129
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta34 / 280825121
prostate18 / 18934595
salivary gland1 / 2015549
skin20 / 21057494
spleen12 / 53952222
stomach8 / 9661982
testis88 / 330442266
thymus37 / 81131456
thyroid2 / 4747342
tonsil0 / 169990 
trachea10 / 52413190
umbilical cord3 / 13680219
uterus43 / 232878184
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 222200_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts31.5
Adipocyte31.4
AdrenalCortex74.95
Adrenalgland87.1
Amygdala48.3
Appendix34.15
AtrioventricularNode28.1
BDCA4+_DentriticCells32.9
Bonemarrow49.05
BronchialEpithelialCells36.05
CD105+_Endothelial73.75
CD14+_Monocytes29.65
CD19+_BCells(neg._sel.)33.55
CD33+_Myeloid48.15
CD34+51.4
CD4+_Tcells39.95
CD56+_NKCells45.1
CD71+_EarlyErythroid391.6
CD8+_Tcells41.45
CardiacMyocytes32.45
Caudatenucleus46.75
Cerebellum44.75
CerebellumPeduncles68.15
CiliaryGanglion21.65
CingulateCortex96.55
Colorectaladenocarcinoma19.7
DorsalRootGanglion15.55
FetalThyroid30.2
Fetalbrain48.9
Fetalliver55.45
Fetallung26.4
GlobusPallidus29.1
Heart37.2
Hypothalamus66.35
Kidney43.95
Leukemia_chronicMyelogenousK-56270.35
Leukemia_promyelocytic-HL-6015.55
Leukemialymphoblastic(MOLT-4)27.5
Liver51.35
Lung37.6
Lymphnode31.75
Lymphoma_burkitts(Daudi)46.05
Lymphoma_burkitts(Raji)19.05
MedullaOblongata40.35
OccipitalLobe40.85
OlfactoryBulb37.05
Ovary30.25
Pancreas31.3
PancreaticIslet45.3
ParietalLobe47.4
Pituitary57.05
Placenta89
Pons34.7
PrefrontalCortex232.7
Prostate47
Salivarygland30
SkeletalMuscle21.55
Skin24.25
SmoothMuscle64.05
Spinalcord49.95
SubthalamicNucleus36.95
SuperiorCervicalGanglion20.1
TemporalLobe34.35
Testis87.7
TestisGermCell42.6
TestisIntersitial30.65
TestisLeydigCell46.95
TestisSeminiferousTubule55
Thalamus61.2
Thymus55.55
Thyroid58.55
Tongue30.35
Tonsil29.55
Trachea39.1
TrigeminalGanglion13.7
Uterus31.5
UterusCorpus23.65
WholeBlood38
Wholebrain43.4
colon39.6
pineal_day107.78
pineal_night126.96
retina67.275
small_intestine51.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P11705
  • 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
Amygdala10.5 ± 0.21
Basal Forebrain10.32 ± 0.28
Basal Part of Pons10.47 ± 0.19
Cerebellar Cortex10.6 ± 0.22
Cerebellar Nuclei10.38 ± 0.32
Claustrum10.79 ± 0.42
Epithalamus10.14 ± 0.33
Frontal Lobe10.39 ± 0.25
Globus Pallidus10.43 ± 0.25
Hypothalamus10.29 ± 0.17
Insula10.48 ± 0.21
Limbic Lobe10.65 ± 0.31
Mesencephalon10.53 ± 0.32
Myelencephalon10.45 ± 0.3
Occipital Lobe10.71 ± 0.35
Parietal Lobe10.42 ± 0.29
Pontine Tegmentum10.38 ± 0.3
Striatum10.3 ± 0.3
Subthalamus10.41 ± 0.26
Temporal Lobe10.46 ± 0.25
Thalamus10.38 ± 0.28
White Matter11.28 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bsdc1CBCerebellum19.03
23.03
Bsdc1CTXCerebral cortex48.48
32.62
Bsdc1HIPHippocampal region31.23
38.65
Bsdc1HPFHippocampal formation35.73
37.82
Bsdc1HYHypothalamus15.2
10.88
Bsdc1LSXLateral septal complex15.99
10.99
Bsdc1MBMidbrain12.92
10.3
Bsdc1MYMedulla17.54
17.01
Bsdc1OLFOlfactory bulb47.92
40.68
Bsdc1PPons13.84
13.1
Bsdc1PALPallidum14.6
11.77
Bsdc1RHPRetrohippocampal region45.33
39.09
Bsdc1sAMYStriatum-like amygdalar nuclei23.68
18.09
Bsdc1STRStriatum17.22
12.72
Bsdc1STRdStriatum dorsal region18.03
13.76
Bsdc1STRvStriatum ventral region10.66
6.6
Bsdc1THThalamus17.31
13.09
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00065196 25 35 59 DLTEFTQVVQHDTACTIAATASVVK 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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