AutismKB 2.0

Annotation Detail for BTD


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Basic Information Top
Gene Symbol:BTD ( - )
Gene Full Name: biotinidase
Band: 3p25.1
Quick LinksEntrez ID:686; OMIM: 609019; Uniprot ID:BTD_HUMAN; ENSEMBL ID: ENSG00000169814; HGNC ID: 1122
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
blastocyst1 / 6231916
fetus24 / 56401242
neonate3 / 3109796
infant1 / 2362042
juvenile4 / 5555671
adult73 / 193912137
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) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor4 / 11424635
esophageal tumor2 / 17290115
gastrointestinal tumor4 / 11936933
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor4 / 6895958
leukemia2 / 9584220
liver tumor10 / 96359103
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal201 / 336030759
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor2 / 12494916
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites2 / 4001549
bladder1 / 2975733
blood3 / 12347824
bone2 / 7165527
bone marrow1 / 4880120
brain46 / 110098941
cervix3 / 4817162
connective tissue14 / 14925593
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus2 / 2020998
eye4 / 21105418
heart9 / 89626100
intestine14 / 23447259
kidney30 / 211777141
larynx0 / 241450 
liver18 / 20774386
lung10 / 33697429
lymph0 / 442700 
lymph node1 / 9161010
mammary gland8 / 15327152
mouth2 / 6705229
muscle2 / 10771518
nerve0 / 157680 
ovary4 / 10205139
pancreas5 / 21481223
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta18 / 28082564
prostate15 / 18934579
salivary gland0 / 201550 
skin3 / 21057414
spleen2 / 5395237
stomach5 / 9661951
testis17 / 33044251
thymus5 / 8113161
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus17 / 23287872
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214117_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.75
Adipocyte13.05
AdrenalCortex7.65
Adrenalgland6
Amygdala6.75
Appendix7
AtrioventricularNode5.9
BDCA4+_DentriticCells7.75
Bonemarrow7.2
BronchialEpithelialCells6.65
CD105+_Endothelial6.95
CD14+_Monocytes7.4
CD19+_BCells(neg._sel.)7.05
CD33+_Myeloid9
CD34+8
CD4+_Tcells7.2
CD56+_NKCells9.55
CD71+_EarlyErythroid6.45
CD8+_Tcells6.8
CardiacMyocytes9.3
Caudatenucleus6.95
Cerebellum5.6
CerebellumPeduncles7.85
CiliaryGanglion4.95
CingulateCortex7.1
Colorectaladenocarcinoma7
DorsalRootGanglion5.3
FetalThyroid6.75
Fetalbrain6.35
Fetalliver7.55
Fetallung5.75
GlobusPallidus5
Heart10.5
Hypothalamus7.45
Kidney6.75
Leukemia_chronicMyelogenousK-5626.2
Leukemia_promyelocytic-HL-606
Leukemialymphoblastic(MOLT-4)5.3
Liver27.45
Lung7.95
Lymphnode5.8
Lymphoma_burkitts(Daudi)8.85
Lymphoma_burkitts(Raji)9.7
MedullaOblongata6.3
OccipitalLobe5.7
OlfactoryBulb5.5
Ovary4.85
Pancreas5.55
PancreaticIslet8.4
ParietalLobe7.3
Pituitary7.9
Placenta7.9
Pons6.6
PrefrontalCortex8.45
Prostate8.25
Salivarygland5.55
SkeletalMuscle8.4
Skin5.35
SmoothMuscle7.8
Spinalcord7.45
SubthalamicNucleus6.35
SuperiorCervicalGanglion8.75
TemporalLobe6.35
Testis12.15
TestisGermCell5.85
TestisIntersitial6.15
TestisLeydigCell7.05
TestisSeminiferousTubule5.9
Thalamus7.1
Thymus5.2
Thyroid8.85
Tongue6.8
Tonsil6.7
Trachea5.75
TrigeminalGanglion7.35
Uterus5.75
UterusCorpus6.75
WholeBlood7.7
Wholebrain5.5
colon10.05
pineal_day19.56
pineal_night44.76
retina9.5
small_intestine7.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10222_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
Amygdala5.85 ± 0.33
Basal Forebrain6.03 ± 0.22
Basal Part of Pons5.92 ± 0.32
Cerebellar Cortex6.26 ± 0.17
Cerebellar Nuclei5.94 ± 0.4
Claustrum5.46 ± 0.51
Epithalamus6.29 ± 0.34
Frontal Lobe5.96 ± 0.38
Globus Pallidus6.14 ± 0.41
Hypothalamus6.17 ± 0.34
Insula5.87 ± 0.42
Limbic Lobe5.75 ± 0.39
Mesencephalon5.83 ± 0.41
Myelencephalon5.9 ± 0.4
Occipital Lobe5.66 ± 0.28
Parietal Lobe5.76 ± 0.39
Pontine Tegmentum5.84 ± 0.44
Striatum5.64 ± 0.33
Subthalamus5.63 ± 0.61
Temporal Lobe5.84 ± 0.32
Thalamus5.93 ± 0.34
White Matter7.2 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BtdCBCerebellum23.72
23.69
BtdCTXCerebral cortex7.08
4.35
BtdHIPHippocampal region18.25
8.85
BtdHPFHippocampal formation18.24
10.34
BtdHYHypothalamus7.06
3.9
BtdLSXLateral septal complex2.58
1.27
BtdMBMidbrain4.39
2.9
BtdMYMedulla13.65
10.33
BtdOLFOlfactory bulb17.85
9.33
BtdPPons10.29
8.09
BtdPALPallidum5.24
3.56
BtdRHPRetrohippocampal region18.04
12.4
BtdsAMYStriatum-like amygdalar nuclei5.9
3.3
BtdSTRStriatum2.26
1.23
BtdSTRdStriatum dorsal region0.77
0.45
BtdSTRvStriatum ventral region5.15
2.52
BtdTHThalamus2.82
1.49
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
BTD_HUMAN_53 7 53 59 PLALISR PRIDE
PAp00024792 19 104 122 DVQIIVFPEDGIHGFNFTR 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