AutismKB 2.0

Annotation Detail for MTMR9


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Basic Information Top
Gene Symbol:MTMR9 ( C8orf9,DKFZp434K171,LIP-STYX,MGC126672,MTMR8 )
Gene Full Name: myotubularin related protein 9
Band: 8p23.1
Quick LinksEntrez ID:66036; OMIM: 606260; Uniprot ID:MTMR9_HUMAN; ENSEMBL ID: ENSG00000104643; HGNC ID: 14596
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
fetus46 / 56401281
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult47 / 193912124
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) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma5 / 10688346
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma5 / 7175569
non-neoplasia4 / 9725041
normal142 / 336030742
ovarian tumor7 / 7668291
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone3 / 7165541
bone marrow2 / 4880140
brain68 / 110098961
cervix2 / 4817141
connective tissue3 / 14925520
ear2 / 16212123
embryonic tissue9 / 21572241
esophagus1 / 2020949
eye11 / 21105452
heart2 / 8962622
intestine0 / 2344720 
kidney4 / 21177718
larynx0 / 241450 
liver1 / 2077434
lung3 / 3369748
lymph2 / 4427045
lymph node2 / 9161021
mammary gland4 / 15327126
mouth3 / 6705244
muscle2 / 10771518
nerve0 / 157680 
ovary7 / 10205168
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate8 / 18934542
salivary gland3 / 20155148
skin1 / 2105744
spleen2 / 5395237
stomach0 / 966190 
testis18 / 33044254
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus7 / 23287830
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204837_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.55
Adipocyte5
AdrenalCortex4.9
Adrenalgland4.7
Amygdala22.6
Appendix10
AtrioventricularNode4
BDCA4+_DentriticCells9.35
Bonemarrow4.65
BronchialEpithelialCells5.7
CD105+_Endothelial4.6
CD14+_Monocytes7.35
CD19+_BCells(neg._sel.)6.55
CD33+_Myeloid8.1
CD34+13.85
CD4+_Tcells8.75
CD56+_NKCells7.55
CD71+_EarlyErythroid4.65
CD8+_Tcells14.15
CardiacMyocytes6.6
Caudatenucleus4.8
Cerebellum5
CerebellumPeduncles20.75
CiliaryGanglion3.7
CingulateCortex32.35
Colorectaladenocarcinoma3.85
DorsalRootGanglion4.6
FetalThyroid10.1
Fetalbrain5.65
Fetalliver4.55
Fetallung3.95
GlobusPallidus11.55
Heart7.35
Hypothalamus9.5
Kidney4.8
Leukemia_chronicMyelogenousK-5624.45
Leukemia_promyelocytic-HL-603.7
Leukemialymphoblastic(MOLT-4)4.05
Liver6.6
Lung5.35
Lymphnode4.35
Lymphoma_burkitts(Daudi)6.1
Lymphoma_burkitts(Raji)5.8
MedullaOblongata35
OccipitalLobe48.65
OlfactoryBulb10.5
Ovary3.45
Pancreas3.7
PancreaticIslet4.9
ParietalLobe30.9
Pituitary6.9
Placenta8.45
Pons12.8
PrefrontalCortex29
Prostate6
Salivarygland5.45
SkeletalMuscle6.2
Skin4.4
SmoothMuscle5.7
Spinalcord5.8
SubthalamicNucleus24.2
SuperiorCervicalGanglion6.55
TemporalLobe30.4
Testis8.35
TestisGermCell12.8
TestisIntersitial5.65
TestisLeydigCell9.55
TestisSeminiferousTubule17.15
Thalamus7.55
Thymus4.95
Thyroid5.5
Tongue5.7
Tonsil5.35
Trachea4.7
TrigeminalGanglion5.25
Uterus4.8
UterusCorpus7.8
WholeBlood5.9
Wholebrain8.55
colon7
pineal_day92.4
pineal_night66.9
retina19.075
small_intestine10.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P71389
  • 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
Amygdala6.34 ± 0.34
Basal Forebrain6.2 ± 0.25
Basal Part of Pons6.38 ± 0.27
Cerebellar Cortex6.23 ± 0.3
Cerebellar Nuclei6.23 ± 0.27
Claustrum6.57 ± 0.4
Epithalamus6.01 ± 0.32
Frontal Lobe6.32 ± 0.32
Globus Pallidus5.87 ± 0.42
Hypothalamus6.54 ± 0.35
Insula6.39 ± 0.52
Limbic Lobe6.4 ± 0.34
Mesencephalon6.32 ± 0.48
Myelencephalon6.27 ± 0.39
Occipital Lobe6.5 ± 0.3
Parietal Lobe6.32 ± 0.32
Pontine Tegmentum6.25 ± 0.32
Striatum5.93 ± 0.34
Subthalamus6.36 ± 0.33
Temporal Lobe6.36 ± 0.24
Thalamus6.33 ± 0.32
White Matter6.01 ± 0.66
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mtmr9CBCerebellum34.67
53.07
Mtmr9CTXCerebral cortex40.45
32.08
Mtmr9HIPHippocampal region29.97
31.94
Mtmr9HPFHippocampal formation40.29
39.35
Mtmr9HYHypothalamus16.11
16.16
Mtmr9LSXLateral septal complex28.63
39.1
Mtmr9MBMidbrain11.1
12.4
Mtmr9MYMedulla15.24
23.01
Mtmr9OLFOlfactory bulb66.86
59.61
Mtmr9PPons18.07
25.76
Mtmr9PALPallidum17.39
17.89
Mtmr9RHPRetrohippocampal region64.85
55.98
Mtmr9sAMYStriatum-like amygdalar nuclei32.17
28.09
Mtmr9STRStriatum23.3
20.22
Mtmr9STRdStriatum dorsal region20.18
17.44
Mtmr9STRvStriatum ventral region25.92
19.91
Mtmr9THThalamus9.35
9.17
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MTMR9_HUMAN_1 11 1 11 MEFAELIKTPR PRIDE
MTMR9_HUMAN_1 8 1 8 MEFAELIK PRIDE
PAp00026764 14 281 294 LVEACNDQTHNMDR 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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