AutismKB 2.0

Annotation Detail for MTMR6


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Basic Information Top
Gene Symbol:MTMR6 ( - )
Gene Full Name: myotubularin related protein 6
Band: 13q12.13
Quick LinksEntrez ID:9107; OMIM: 603561; Uniprot ID:MTMR6_HUMAN; ENSEMBL ID: ENSG00000139505; HGNC ID: 7453
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
blastocyst2 / 6231932
fetus24 / 56401242
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult58 / 193912129
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma4 / 17475228
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor9 / 26384534
glioma2 / 10688318
head and neck tumor7 / 13630251
kidney tumor2 / 6895929
leukemia4 / 9584241
liver tumor4 / 9635941
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia3 / 9725030
normal206 / 336030761
ovarian tumor1 / 7668213
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer1 / 1026809
retinoblastoma4 / 4635686
skin tumor3 / 12494924
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder3 / 29757100
blood4 / 12347832
bone3 / 7165541
bone marrow3 / 4880161
brain114 / 1100989103
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye12 / 21105456
heart0 / 896260 
intestine4 / 23447217
kidney6 / 21177728
larynx0 / 241450 
liver8 / 20774338
lung12 / 33697435
lymph1 / 4427022
lymph node9 / 9161098
mammary gland1 / 1532716
mouth7 / 67052104
muscle3 / 10771527
nerve0 / 157680 
ovary1 / 1020519
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta11 / 28082539
prostate3 / 18934515
salivary gland2 / 2015599
skin3 / 21057414
spleen1 / 5395218
stomach0 / 966190 
testis60 / 330442181
thymus8 / 8113198
thyroid0 / 474730 
tonsil0 / 169990 
trachea15 / 52413286
umbilical cord0 / 136800 
uterus17 / 23287872
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214429_at
Cell line Expression level Expression bar
721_B_lymphoblasts48.85
Adipocyte22.05
AdrenalCortex38.7
Adrenalgland21.1
Amygdala152.75
Appendix40.9
AtrioventricularNode30.25
BDCA4+_DentriticCells120.65
Bonemarrow17.6
BronchialEpithelialCells105.8
CD105+_Endothelial34.5
CD14+_Monocytes117.05
CD19+_BCells(neg._sel.)107.8
CD33+_Myeloid202.35
CD34+51.15
CD4+_Tcells68.75
CD56+_NKCells110.8
CD71+_EarlyErythroid35.05
CD8+_Tcells69.9
CardiacMyocytes45.75
Caudatenucleus43.3
Cerebellum16.65
CerebellumPeduncles21.25
CiliaryGanglion33.35
CingulateCortex45.55
Colorectaladenocarcinoma39.1
DorsalRootGanglion21.35
FetalThyroid29.65
Fetalbrain85.25
Fetalliver28.35
Fetallung30.05
GlobusPallidus34.3
Heart38.3
Hypothalamus116.25
Kidney12.35
Leukemia_chronicMyelogenousK-56221.95
Leukemia_promyelocytic-HL-6033.8
Leukemialymphoblastic(MOLT-4)44.45
Liver20.8
Lung21
Lymphnode49.7
Lymphoma_burkitts(Daudi)38.65
Lymphoma_burkitts(Raji)30.6
MedullaOblongata48.75
OccipitalLobe55.5
OlfactoryBulb25
Ovary16.4
Pancreas28.7
PancreaticIslet49.25
ParietalLobe43.4
Pituitary41.75
Placenta17.05
Pons29.3
PrefrontalCortex114.45
Prostate42.85
Salivarygland38
SkeletalMuscle28.45
Skin27.7
SmoothMuscle62.25
Spinalcord66.8
SubthalamicNucleus40.1
SuperiorCervicalGanglion34.5
TemporalLobe28.05
Testis28.9
TestisGermCell61.95
TestisIntersitial50.1
TestisLeydigCell52.1
TestisSeminiferousTubule39.5
Thalamus41.35
Thymus18.45
Thyroid110.55
Tongue28
Tonsil37.7
Trachea29
TrigeminalGanglion45.3
Uterus56.9
UterusCorpus24.85
WholeBlood154.2
Wholebrain55.35
colon41.6
pineal_day131.86
pineal_night139.52
retina40.675
small_intestine17.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P25515
  • 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
Amygdala7.24 ± 0.56
Basal Forebrain7.4 ± 0.09
Basal Part of Pons7.71 ± 0.15
Cerebellar Cortex7.29 ± 0.29
Cerebellar Nuclei7.82 ± 0.48
Claustrum7.51 ± 0.4
Epithalamus7.32 ± 0.46
Frontal Lobe7.59 ± 0.36
Globus Pallidus7.4 ± 0.25
Hypothalamus7.89 ± 0.26
Insula7.46 ± 0.24
Limbic Lobe7.7 ± 0.4
Mesencephalon7.56 ± 0.38
Myelencephalon7.53 ± 0.37
Occipital Lobe7.77 ± 0.34
Parietal Lobe7.6 ± 0.4
Pontine Tegmentum7.67 ± 0.39
Striatum7.85 ± 0.26
Subthalamus7.89 ± 0.29
Temporal Lobe7.59 ± 0.34
Thalamus7.53 ± 0.28
White Matter7.89 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mtmr6CBCerebellum40.39
67.42
Mtmr6CTXCerebral cortex100
100
Mtmr6HIPHippocampal region84.44
100
Mtmr6HPFHippocampal formation88.38
100
Mtmr6HYHypothalamus93.26
94.05
Mtmr6LSXLateral septal complex100
92.64
Mtmr6MBMidbrain71.33
75.56
Mtmr6MYMedulla65.51
82.95
Mtmr6OLFOlfactory bulb100
100
Mtmr6PPons68.66
84.32
Mtmr6PALPallidum87.53
94.6
Mtmr6RHPRetrohippocampal region98.43
100
Mtmr6sAMYStriatum-like amygdalar nuclei98.37
99.52
Mtmr6STRStriatum93.59
88.69
Mtmr6STRdStriatum dorsal region88.72
83.45
Mtmr6STRvStriatum ventral region100
99.14
Mtmr6THThalamus84.66
85.99
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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