AutismKB 2.0

Annotation Detail for MTMR14


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Basic Information Top
Gene Symbol:MTMR14 ( C3orf29,FLJ11546,FLJ22405,FLJ46453,FLJ90311 )
Gene Full Name: myotubularin related protein 14
Band: 3p25.3
Quick LinksEntrez ID:64419; OMIM: 611089; Uniprot ID:MTMRE_HUMAN; ENSEMBL ID: ENSG00000163719; HGNC ID: 26190
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 body5 / 7076170
blastocyst3 / 6231948
fetus16 / 56401228
neonate1 / 3109732
infant5 / 23620211
juvenile5 / 5555689
adult126 / 193912164
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) tumor7 / 9417874
cervical tumor3 / 3436687
chondrosarcoma6 / 8282372
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor31 / 263845117
glioma8 / 10688374
head and neck tumor0 / 1363020 
kidney tumor7 / 68959101
leukemia16 / 95842166
liver tumor8 / 9635983
lung tumor5 / 10312748
lymphoma10 / 71755139
non-neoplasia10 / 97250102
normal202 / 336030760
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS27 / 125680214
prostate cancer1 / 1026809
retinoblastoma3 / 4635664
skin tumor7 / 12494956
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites1 / 4001524
bladder0 / 297570 
blood21 / 123478170
bone5 / 7165569
bone marrow6 / 48801122
brain76 / 110098969
cervix5 / 48171103
connective tissue12 / 14925580
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye14 / 21105466
heart4 / 8962644
intestine18 / 23447276
kidney19 / 21177789
larynx0 / 241450 
liver8 / 20774338
lung16 / 33697447
lymph2 / 4427045
lymph node9 / 9161098
mammary gland10 / 15327165
mouth1 / 6705214
muscle12 / 107715111
nerve0 / 157680 
ovary4 / 10205139
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta19 / 28082567
prostate3 / 18934515
salivary gland0 / 201550 
skin14 / 21057466
spleen10 / 53952185
stomach5 / 9661951
testis22 / 33044266
thymus7 / 8113186
thyroid2 / 4747342
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus20 / 23287885
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 222143_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts27.2
Adipocyte15.25
AdrenalCortex15.5
Adrenalgland14.2
Amygdala16.85
Appendix14.6
AtrioventricularNode9
BDCA4+_DentriticCells123.55
Bonemarrow19.05
BronchialEpithelialCells18.25
CD105+_Endothelial13.1
CD14+_Monocytes184.6
CD19+_BCells(neg._sel.)83.2
CD33+_Myeloid164.75
CD34+31.05
CD4+_Tcells20.15
CD56+_NKCells32.75
CD71+_EarlyErythroid17.65
CD8+_Tcells31.45
CardiacMyocytes15.6
Caudatenucleus20.2
Cerebellum16.45
CerebellumPeduncles19.05
CiliaryGanglion8.65
CingulateCortex25.9
Colorectaladenocarcinoma16.95
DorsalRootGanglion8.15
FetalThyroid14.65
Fetalbrain13.9
Fetalliver13.2
Fetallung19
GlobusPallidus12
Heart48.7
Hypothalamus16.95
Kidney22.65
Leukemia_chronicMyelogenousK-56219.15
Leukemia_promyelocytic-HL-6014.4
Leukemialymphoblastic(MOLT-4)17.15
Liver35.8
Lung30.05
Lymphnode23.95
Lymphoma_burkitts(Daudi)25.05
Lymphoma_burkitts(Raji)17.85
MedullaOblongata14.45
OccipitalLobe14.6
OlfactoryBulb10.8
Ovary8.9
Pancreas12.4
PancreaticIslet16.3
ParietalLobe17.1
Pituitary17.75
Placenta28.95
Pons16.25
PrefrontalCortex25
Prostate22.65
Salivarygland12.2
SkeletalMuscle15.8
Skin8.9
SmoothMuscle16.75
Spinalcord17.65
SubthalamicNucleus13.45
SuperiorCervicalGanglion15.55
TemporalLobe12.45
Testis21.9
TestisGermCell22.35
TestisIntersitial15.3
TestisLeydigCell16
TestisSeminiferousTubule22.2
Thalamus16.2
Thymus19.15
Thyroid30.95
Tongue16.4
Tonsil37.4
Trachea16
TrigeminalGanglion12.1
Uterus14.75
UterusCorpus12.9
WholeBlood97.55
Wholebrain17.65
colon20.85
pineal_day16.32
pineal_night14
retina25.15
small_intestine25.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P388502
  • 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
Amygdala2.01 ± 1.14
Basal Forebrain1.51 ± 0.22
Basal Part of Pons1.27 ± 0.37
Cerebellar Cortex1.64 ± 0.88
Cerebellar Nuclei1.93 ± 0.71
Claustrum2.47 ± 0.92
Epithalamus1.21 ± 0.57
Frontal Lobe1.51 ± 0.68
Globus Pallidus1.98 ± 0.4
Hypothalamus1.66 ± 0.66
Insula1.22 ± 0.3
Limbic Lobe1.48 ± 0.66
Mesencephalon1.65 ± 0.66
Myelencephalon1.57 ± 0.68
Occipital Lobe1.49 ± 0.99
Parietal Lobe1.62 ± 0.73
Pontine Tegmentum1.57 ± 0.71
Striatum1.48 ± 0.46
Subthalamus1.56 ± 0.62
Temporal Lobe1.41 ± 0.7
Thalamus1.54 ± 0.85
White Matter1.88 ± 0.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
1110061O04RikCBCerebellum3.23
4.24
1110061O04RikCTXCerebral cortex27.51
21.52
1110061O04RikHIPHippocampal region12.1
14.12
1110061O04RikHPFHippocampal formation10.19
10.62
1110061O04RikHYHypothalamus0.68
0.47
1110061O04RikLSXLateral septal complex3.39
2.35
1110061O04RikMBMidbrain1.94
2.15
1110061O04RikMYMedulla6.24
8.3
1110061O04RikOLFOlfactory bulb8.17
6.41
1110061O04RikPPons4.08
4.95
1110061O04RikPALPallidum2.81
2.2
1110061O04RikRHPRetrohippocampal region6.57
5.36
1110061O04RiksAMYStriatum-like amygdalar nuclei1.81
1.19
1110061O04RikSTRStriatum3.8
4.29
1110061O04RikSTRdStriatum dorsal region4.35
5.64
1110061O04RikSTRvStriatum ventral region3.09
2.08
1110061O04RikTHThalamus5.13
4.82
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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