AutismKB 2.0

Annotation Detail for MTRR


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Basic Information Top
Gene Symbol:MTRR ( MGC129643,MSR,cblE )
Gene Full Name: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Band: 5p15.31
Quick LinksEntrez ID:4552; OMIM: 602568; Uniprot ID:MTRR_HUMAN; ENSEMBL ID: ENSG00000124275; HGNC ID: 7473
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
fetus21 / 56401237
neonate5 / 31097160
infant2 / 2362084
juvenile3 / 5555653
adult58 / 193912129
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 tumor4 / 34366116
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor13 / 26384549
glioma2 / 10688318
head and neck tumor5 / 13630236
kidney tumor1 / 6895914
leukemia5 / 9584252
liver tumor3 / 9635931
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal147 / 336030743
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites4 / 4001599
bladder1 / 2975733
blood8 / 12347864
bone0 / 716550 
bone marrow2 / 4880140
brain64 / 110098958
cervix5 / 48171103
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine6 / 23447225
kidney6 / 21177728
larynx0 / 241450 
liver9 / 20774343
lung14 / 33697441
lymph0 / 442700 
lymph node4 / 9161043
mammary gland4 / 15327126
mouth4 / 6705259
muscle5 / 10771546
nerve1 / 1576863
ovary1 / 1020519
pancreas5 / 21481223
parathyroid3 / 20539146
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta14 / 28082549
prostate5 / 18934526
salivary gland0 / 201550 
skin15 / 21057471
spleen2 / 5395237
stomach0 / 966190 
testis26 / 33044278
thymus6 / 8113173
thyroid1 / 4747321
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus11 / 23287847
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203200_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts47.55
Adipocyte14.25
AdrenalCortex12.1
Adrenalgland11.8
Amygdala22.6
Appendix23.85
AtrioventricularNode10.15
BDCA4+_DentriticCells55.4
Bonemarrow9.75
BronchialEpithelialCells14
CD105+_Endothelial48.5
CD14+_Monocytes31.95
CD19+_BCells(neg._sel.)33.7
CD33+_Myeloid51.4
CD34+69.9
CD4+_Tcells88.8
CD56+_NKCells43.5
CD71+_EarlyErythroid12.75
CD8+_Tcells79.4
CardiacMyocytes6.4
Caudatenucleus14.75
Cerebellum10.85
CerebellumPeduncles11.25
CiliaryGanglion8.95
CingulateCortex14.25
Colorectaladenocarcinoma14.45
DorsalRootGanglion8.25
FetalThyroid13.1
Fetalbrain12.25
Fetalliver11.6
Fetallung15.25
GlobusPallidus8.8
Heart10.4
Hypothalamus34.8
Kidney10.9
Leukemia_chronicMyelogenousK-56214.2
Leukemia_promyelocytic-HL-6032.4
Leukemialymphoblastic(MOLT-4)8.75
Liver8.15
Lung14.75
Lymphnode12.05
Lymphoma_burkitts(Daudi)20.15
Lymphoma_burkitts(Raji)18.95
MedullaOblongata15.5
OccipitalLobe12.9
OlfactoryBulb13.3
Ovary7.1
Pancreas7.35
PancreaticIslet11.6
ParietalLobe14.45
Pituitary16.35
Placenta7.35
Pons13.4
PrefrontalCortex31.05
Prostate18.2
Salivarygland10.35
SkeletalMuscle11.25
Skin8.6
SmoothMuscle9.35
Spinalcord38.85
SubthalamicNucleus12.35
SuperiorCervicalGanglion14.95
TemporalLobe9.65
Testis8.55
TestisGermCell11.25
TestisIntersitial8
TestisLeydigCell10
TestisSeminiferousTubule10.25
Thalamus14.3
Thymus7.9
Thyroid17.8
Tongue13.05
Tonsil10.45
Trachea9.9
TrigeminalGanglion10.55
Uterus23
UterusCorpus8.05
WholeBlood16.45
Wholebrain19
colon15
pineal_day112.38
pineal_night80.72
retina21.875
small_intestine13.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16482_PI416261804
  • 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
Amygdala6.4 ± 0.32
Basal Forebrain6.73 ± 0.27
Basal Part of Pons6.55 ± 0.4
Cerebellar Cortex6.51 ± 0.22
Cerebellar Nuclei7.14 ± 0.29
Claustrum6.35 ± 0.54
Epithalamus6.33 ± 0.3
Frontal Lobe6.48 ± 0.39
Globus Pallidus7.04 ± 0.25
Hypothalamus6.54 ± 0.52
Insula6.31 ± 0.24
Limbic Lobe6.57 ± 0.29
Mesencephalon6.65 ± 0.41
Myelencephalon6.57 ± 0.36
Occipital Lobe6.89 ± 0.31
Parietal Lobe6.63 ± 0.32
Pontine Tegmentum6.65 ± 0.34
Striatum6.7 ± 0.34
Subthalamus6.82 ± 0.13
Temporal Lobe6.46 ± 0.28
Thalamus6.58 ± 0.27
White Matter8.13 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
MtrrCBCerebellum21.61
15.45
MtrrCTXCerebral cortex17.8
11.72
MtrrHIPHippocampal region30.57
23.09
MtrrHPFHippocampal formation31.02
22.29
MtrrHYHypothalamus27.68
17.89
MtrrLSXLateral septal complex15.91
10.45
MtrrMBMidbrain38.59
24.71
MtrrMYMedulla54.38
35.92
MtrrOLFOlfactory bulb26.41
16.59
MtrrPPons67.75
45.33
MtrrPALPallidum25.84
18.12
MtrrRHPRetrohippocampal region31.78
21.02
MtrrsAMYStriatum-like amygdalar nuclei15.38
9.93
MtrrSTRStriatum18.21
12.4
MtrrSTRdStriatum dorsal region20.19
14.36
MtrrSTRvStriatum ventral region14.94
8.93
MtrrTHThalamus34.05
23.85
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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