AutismKB 2.0

Annotation Detail for MCTP1


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Basic Information Top
Gene Symbol:MCTP1 ( FLJ22344 )
Gene Full Name: multiple C2 domains, transmembrane 1
Band: 5q15
Quick LinksEntrez ID:79772; OMIM: NA; Uniprot ID:MCTP1_HUMAN; ENSEMBL ID: ENSG00000175471; HGNC ID: 26183
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 body0 / 707610 
blastocyst0 / 623190 
fetus12 / 56401221
neonate2 / 3109764
infant1 / 2362042
juvenile2 / 5555635
adult21 / 193912110
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor2 / 2638457
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor5 / 6895972
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal64 / 336030719
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood7 / 12347856
bone2 / 7165527
bone marrow0 / 488010 
brain30 / 110098927
cervix2 / 4817141
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart3 / 8962633
intestine4 / 23447217
kidney5 / 21177723
larynx0 / 241450 
liver3 / 20774314
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle2 / 10771518
nerve1 / 1576863
ovary2 / 10205119
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland1 / 2015549
skin1 / 2105744
spleen2 / 5395237
stomach1 / 9661910
testis6 / 33044218
thymus8 / 8113198
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220122_at
Cell line Expression level Expression bar
721_B_lymphoblasts18
Adipocyte6.75
AdrenalCortex7.8
Adrenalgland5.9
Amygdala41
Appendix9.7
AtrioventricularNode8.25
BDCA4+_DentriticCells8.5
Bonemarrow7.4
BronchialEpithelialCells6.4
CD105+_Endothelial6.7
CD14+_Monocytes21.55
CD19+_BCells(neg._sel.)6.75
CD33+_Myeloid11.65
CD34+8.6
CD4+_Tcells6.75
CD56+_NKCells7.4
CD71+_EarlyErythroid6.45
CD8+_Tcells5.7
CardiacMyocytes9.7
Caudatenucleus54.25
Cerebellum5.6
CerebellumPeduncles10.3
CiliaryGanglion6.2
CingulateCortex10.7
Colorectaladenocarcinoma6.75
DorsalRootGanglion6.15
FetalThyroid6.65
Fetalbrain8.95
Fetalliver6.05
Fetallung5.1
GlobusPallidus5.4
Heart10.6
Hypothalamus8.25
Kidney6.1
Leukemia_chronicMyelogenousK-5626.1
Leukemia_promyelocytic-HL-606.15
Leukemialymphoblastic(MOLT-4)5.15
Liver9.95
Lung7.2
Lymphnode5.3
Lymphoma_burkitts(Daudi)11.2
Lymphoma_burkitts(Raji)10.35
MedullaOblongata29.55
OccipitalLobe14.8
OlfactoryBulb5.25
Ovary4.7
Pancreas5.7
PancreaticIslet7.2
ParietalLobe11.3
Pituitary7.85
Placenta6.35
Pons9.05
PrefrontalCortex50.65
Prostate7.7
Salivarygland5.6
SkeletalMuscle10.5
Skin6.55
SmoothMuscle7.35
Spinalcord7.3
SubthalamicNucleus8.8
SuperiorCervicalGanglion10.6
TemporalLobe6.8
Testis5.8
TestisGermCell5.5
TestisIntersitial5.75
TestisLeydigCell6.95
TestisSeminiferousTubule5.65
Thalamus6.95
Thymus4.95
Thyroid7.7
Tongue7.35
Tonsil6.65
Trachea5.7
TrigeminalGanglion8.1
Uterus5.35
UterusCorpus6.9
WholeBlood9
Wholebrain6.9
colon6.9
pineal_day8
pineal_night8.06
retina8.1
small_intestine6.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P133293
  • 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
Amygdala8.14 ± 0.7
Basal Forebrain8 ± 0.31
Basal Part of Pons8.13 ± 0.56
Cerebellar Cortex8 ± 0.18
Cerebellar Nuclei7.43 ± 0.66
Claustrum8.17 ± 0.43
Epithalamus6.92 ± 0.34
Frontal Lobe8.09 ± 0.51
Globus Pallidus5.63 ± 1.01
Hypothalamus8.57 ± 0.58
Insula8.2 ± 0.54
Limbic Lobe8.4 ± 0.75
Mesencephalon7.5 ± 0.62
Myelencephalon7.85 ± 0.81
Occipital Lobe7.41 ± 0.73
Parietal Lobe7.7 ± 0.55
Pontine Tegmentum8.18 ± 0.9
Striatum9.61 ± 0.72
Subthalamus7.6 ± 0.26
Temporal Lobe7.88 ± 0.43
Thalamus6.96 ± 0.57
White Matter4.7 ± 0.78
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mctp1CBCerebellum0.44
0.73
Mctp1CTXCerebral cortex0.84
0.99
Mctp1HIPHippocampal region0.36
0.64
Mctp1HPFHippocampal formation0.32
0.47
Mctp1HYHypothalamus0.31
0.25
Mctp1LSXLateral septal complex1.18
1.2
Mctp1MBMidbrain1.11
1.43
Mctp1MYMedulla0.33
0.34
Mctp1OLFOlfactory bulb0.86
2.07
Mctp1PPons0.4
0.38
Mctp1PALPallidum0.26
0.24
Mctp1RHPRetrohippocampal region0.25
0.24
Mctp1sAMYStriatum-like amygdalar nuclei0.19
0.24
Mctp1STRStriatum0.42
0.37
Mctp1STRdStriatum dorsal region0.46
0.41
Mctp1STRvStriatum ventral region0.13
0.07
Mctp1THThalamus0.34
0.36
Peptide Top

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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