AutismKB 2.0

Annotation Detail for MBTPS1


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Basic Information Top
Gene Symbol:MBTPS1 ( KIAA0091,MGC138711,MGC138712,PCSK8,S1P,SKI-1 )
Gene Full Name: membrane-bound transcription factor peptidase, site 1
Band: 16q23.3-q24.1
Quick LinksEntrez ID:8720; OMIM: 603355; Uniprot ID:MBTP1_HUMAN; ENSEMBL ID: ENSG00000140943; HGNC ID: 15456
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 body13 / 70761183
blastocyst12 / 62319192
fetus61 / 564012108
neonate5 / 31097160
infant3 / 23620127
juvenile5 / 5555689
adult253 / 1939121130
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor17 / 94178180
cervical tumor1 / 3436629
chondrosarcoma12 / 82823144
colorectal tumor13 / 114246113
esophageal tumor1 / 1729057
gastrointestinal tumor14 / 119369117
germ cell tumor67 / 263845253
glioma10 / 10688393
head and neck tumor17 / 136302124
kidney tumor2 / 6895929
leukemia12 / 95842125
liver tumor6 / 9635962
lung tumor4 / 10312738
lymphoma1 / 7175513
non-neoplasia11 / 97250113
normal401 / 3360307119
ovarian tumor10 / 76682130
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor6 / 12494948
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood7 / 12347856
bone10 / 71655139
bone marrow3 / 4880161
brain156 / 1100989141
cervix7 / 48171145
connective tissue12 / 14925580
ear3 / 16212185
embryonic tissue41 / 215722190
esophagus1 / 2020949
eye28 / 211054132
heart1 / 8962611
intestine26 / 234472110
kidney5 / 21177723
larynx3 / 24145124
liver11 / 20774352
lung28 / 33697483
lymph0 / 442700 
lymph node16 / 91610174
mammary gland17 / 153271110
mouth10 / 67052149
muscle27 / 107715250
nerve1 / 1576863
ovary12 / 102051117
pancreas19 / 21481288
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland4 / 16585241
placenta32 / 280825113
prostate9 / 18934547
salivary gland3 / 20155148
skin16 / 21057475
spleen2 / 5395237
stomach17 / 96619175
testis82 / 330442248
thymus19 / 81131234
thyroid4 / 4747384
tonsil0 / 169990 
trachea17 / 52413324
umbilical cord4 / 13680292
uterus41 / 232878176
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201620_at
Cell line Expression level Expression bar
721_B_lymphoblasts38.8
Adipocyte94.45
AdrenalCortex53.85
Adrenalgland39.05
Amygdala41.85
Appendix39
AtrioventricularNode33.6
BDCA4+_DentriticCells73.85
Bonemarrow21.85
BronchialEpithelialCells50.8
CD105+_Endothelial27.7
CD14+_Monocytes87.2
CD19+_BCells(neg._sel.)86.95
CD33+_Myeloid108.3
CD34+45.15
CD4+_Tcells111.45
CD56+_NKCells97.65
CD71+_EarlyErythroid19.4
CD8+_Tcells155.35
CardiacMyocytes73.35
Caudatenucleus36.3
Cerebellum43.3
CerebellumPeduncles43.85
CiliaryGanglion29.05
CingulateCortex44.5
Colorectaladenocarcinoma42.75
DorsalRootGanglion30.75
FetalThyroid114
Fetalbrain45
Fetalliver24.8
Fetallung75.15
GlobusPallidus33.45
Heart33.5
Hypothalamus41.8
Kidney37.95
Leukemia_chronicMyelogenousK-56236.45
Leukemia_promyelocytic-HL-6032.6
Leukemialymphoblastic(MOLT-4)55.7
Liver51.25
Lung134.45
Lymphnode53.8
Lymphoma_burkitts(Daudi)46.2
Lymphoma_burkitts(Raji)44.9
MedullaOblongata37.65
OccipitalLobe35.15
OlfactoryBulb37
Ovary32.6
Pancreas26.55
PancreaticIslet40.65
ParietalLobe34.65
Pituitary150.25
Placenta106.8
Pons36.25
PrefrontalCortex46.85
Prostate107.9
Salivarygland50.95
SkeletalMuscle21.1
Skin35.25
SmoothMuscle152.5
Spinalcord33.05
SubthalamicNucleus53.95
SuperiorCervicalGanglion44.8
TemporalLobe32.75
Testis29.75
TestisGermCell48.6
TestisIntersitial29
TestisLeydigCell33.1
TestisSeminiferousTubule28.05
Thalamus46.1
Thymus56.05
Thyroid121.3
Tongue32.95
Tonsil33.35
Trachea33.25
TrigeminalGanglion40
Uterus103.3
UterusCorpus34.3
WholeBlood35.7
Wholebrain51.45
colon30.5
pineal_day730.84
pineal_night910.96
retina104.275
small_intestine29
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P378368
  • 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
Amygdala5.38 ± 0.4
Basal Forebrain5.28 ± 0.46
Basal Part of Pons5.09 ± 0.44
Cerebellar Cortex5.59 ± 0.23
Cerebellar Nuclei4.98 ± 0.4
Claustrum5.19 ± 0.46
Epithalamus4.97 ± 0.28
Frontal Lobe4.99 ± 0.49
Globus Pallidus4.52 ± 0.39
Hypothalamus5.29 ± 0.34
Insula5.37 ± 0.39
Limbic Lobe5.16 ± 0.54
Mesencephalon5.1 ± 0.47
Myelencephalon5.03 ± 0.51
Occipital Lobe5.18 ± 0.43
Parietal Lobe5.15 ± 0.46
Pontine Tegmentum5.15 ± 0.51
Striatum4.79 ± 0.55
Subthalamus5.19 ± 0.54
Temporal Lobe5.24 ± 0.45
Thalamus4.92 ± 0.51
White Matter5.7 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mbtps1CBCerebellum55.97
69.09
Mbtps1CTXCerebral cortex84.04
65.79
Mbtps1HIPHippocampal region61.92
97.09
Mbtps1HPFHippocampal formation67.97
85.47
Mbtps1HYHypothalamus50.19
40.51
Mbtps1LSXLateral septal complex55.96
44.51
Mbtps1MBMidbrain66.95
60.72
Mbtps1MYMedulla75.26
78.67
Mbtps1OLFOlfactory bulb81.57
77.55
Mbtps1PPons67.7
68.38
Mbtps1PALPallidum41.6
35.98
Mbtps1RHPRetrohippocampal region84.61
70.37
Mbtps1sAMYStriatum-like amygdalar nuclei48.28
38.64
Mbtps1STRStriatum99.2
79.91
Mbtps1STRdStriatum dorsal region100
89.13
Mbtps1STRvStriatum ventral region100
85.36
Mbtps1THThalamus56.46
53.95
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MBTP1_HUMAN_270 7 270 276 AELHIFR PRIDE

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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