AutismKB 2.0

Annotation Detail for MTMR12


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Basic Information Top
Gene Symbol:MTMR12 ( 3-PAP,PIP3AP )
Gene Full Name: myotubularin related protein 12
Band: 5p13.3
Quick LinksEntrez ID:54545; OMIM: 606501; Uniprot ID:MTMRC_HUMAN; ENSEMBL ID: ENSG00000150712; HGNC ID: 18191
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
blastocyst4 / 6231964
fetus31 / 56401254
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult64 / 193912133
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor2 / 11936916
germ cell tumor7 / 26384526
glioma4 / 10688337
head and neck tumor16 / 136302117
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor13 / 103127126
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal91 / 336030727
ovarian tumor4 / 7668252
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer8 / 10268077
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone2 / 7165527
bone marrow1 / 4880120
brain24 / 110098921
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus1 / 2020949
eye2 / 2110549
heart3 / 8962633
intestine3 / 23447212
kidney14 / 21177766
larynx0 / 241450 
liver2 / 2077439
lung14 / 33697441
lymph1 / 4427022
lymph node13 / 91610141
mammary gland6 / 15327139
mouth4 / 6705259
muscle2 / 10771518
nerve0 / 157680 
ovary5 / 10205148
pancreas0 / 2148120 
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta4 / 28082514
prostate12 / 18934563
salivary gland4 / 20155198
skin2 / 2105749
spleen0 / 539520 
stomach2 / 9661920
testis14 / 33044242
thymus1 / 8113112
thyroid7 / 47473147
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus9 / 23287838
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220953_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.6
Adipocyte4.2
AdrenalCortex4.65
Adrenalgland3.6
Amygdala4.6
Appendix4.5
AtrioventricularNode3.45
BDCA4+_DentriticCells13.95
Bonemarrow4.3
BronchialEpithelialCells5.1
CD105+_Endothelial9.45
CD14+_Monocytes4.7
CD19+_BCells(neg._sel.)11.2
CD33+_Myeloid18.9
CD34+5.5
CD4+_Tcells10.6
CD56+_NKCells6.5
CD71+_EarlyErythroid27.2
CD8+_Tcells4.8
CardiacMyocytes6.3
Caudatenucleus3.9
Cerebellum3.45
CerebellumPeduncles4.95
CiliaryGanglion3.25
CingulateCortex4.45
Colorectaladenocarcinoma4.35
DorsalRootGanglion3.45
FetalThyroid4.25
Fetalbrain4.25
Fetalliver3.8
Fetallung3.6
GlobusPallidus3.25
Heart5.65
Hypothalamus4.65
Kidney3.55
Leukemia_chronicMyelogenousK-5624
Leukemia_promyelocytic-HL-603.9
Leukemialymphoblastic(MOLT-4)3.85
Liver5.65
Lung4.8
Lymphnode3.55
Lymphoma_burkitts(Daudi)7
Lymphoma_burkitts(Raji)5.95
MedullaOblongata3.75
OccipitalLobe3.85
OlfactoryBulb3.35
Ovary3.55
Pancreas3.45
PancreaticIslet4.7
ParietalLobe4.55
Pituitary5.1
Placenta4.6
Pons4.8
PrefrontalCortex5.2
Prostate5.15
Salivarygland3.4
SkeletalMuscle5.05
Skin3.45
SmoothMuscle4.85
Spinalcord4.65
SubthalamicNucleus3.9
SuperiorCervicalGanglion5.3
TemporalLobe3.9
Testis3.7
TestisGermCell4.55
TestisIntersitial3.7
TestisLeydigCell4.25
TestisSeminiferousTubule4.25
Thalamus6.05
Thymus3.5
Thyroid5.45
Tongue4.25
Tonsil4.6
Trachea3.7
TrigeminalGanglion4.4
Uterus3.6
UterusCorpus3.95
WholeBlood4.65
Wholebrain3.75
colon4.4
pineal_day5.64
pineal_night5.36
retina5.25
small_intestine4.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P250767
  • 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
Amygdala5.08 ± 0.45
Basal Forebrain4.3 ± 0.64
Basal Part of Pons4.09 ± 0.34
Cerebellar Cortex4.06 ± 0.58
Cerebellar Nuclei3.86 ± 0.36
Claustrum5.14 ± 0.65
Epithalamus4.17 ± 0.34
Frontal Lobe4.25 ± 0.68
Globus Pallidus3.3 ± 0.51
Hypothalamus3.71 ± 0.47
Insula4.62 ± 0.51
Limbic Lobe4.62 ± 0.62
Mesencephalon4.21 ± 0.53
Myelencephalon4.32 ± 0.58
Occipital Lobe4.61 ± 0.61
Parietal Lobe4.22 ± 0.62
Pontine Tegmentum4.44 ± 0.84
Striatum4.71 ± 0.45
Subthalamus3.93 ± 0.71
Temporal Lobe4.49 ± 0.48
Thalamus4.03 ± 0.54
White Matter4.71 ± 0.57
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mtmr12CBCerebellum5.31
5.7
Mtmr12CTXCerebral cortex51.11
38.98
Mtmr12HIPHippocampal region58.37
95.31
Mtmr12HPFHippocampal formation40.83
57.77
Mtmr12HYHypothalamus0.97
1.2
Mtmr12LSXLateral septal complex3.89
3.95
Mtmr12MBMidbrain1.21
1.43
Mtmr12MYMedulla1.63
2.04
Mtmr12OLFOlfactory bulb39.03
35.47
Mtmr12PPons1.06
1.47
Mtmr12PALPallidum1.11
1.02
Mtmr12RHPRetrohippocampal region15.73
13.76
Mtmr12sAMYStriatum-like amygdalar nuclei2.86
2.44
Mtmr12STRStriatum4.91
3.65
Mtmr12STRdStriatum dorsal region4.86
3.51
Mtmr12STRvStriatum ventral region6.47
4.37
Mtmr12THThalamus4.43
6.53
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00069983 19 82 100 IAFLGDDESALDNDETQFK 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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