AutismKB 2.0

Annotation Detail for MTHFR


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Basic Information Top
Gene Symbol:MTHFR ( - )
Gene Full Name: methylenetetrahydrofolate reductase (NAD(P)H)
Band: 1p36.22
Quick LinksEntrez ID:4524; OMIM: 607093; Uniprot ID:MTHR_HUMAN; ENSEMBL ID: ENSG00000177000; HGNC ID: 7436
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
blastocyst2 / 6231932
fetus12 / 56401221
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult52 / 193912126
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor7 / 26384526
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia6 / 9584262
liver tumor2 / 9635920
lung tumor4 / 10312738
lymphoma3 / 7175541
non-neoplasia3 / 9725030
normal89 / 336030726
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
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 
blood3 / 12347824
bone1 / 7165513
bone marrow4 / 4880181
brain18 / 110098916
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye10 / 21105447
heart1 / 8962611
intestine6 / 23447225
kidney4 / 21177718
larynx0 / 241450 
liver2 / 2077439
lung13 / 33697438
lymph3 / 4427067
lymph node9 / 9161098
mammary gland5 / 15327132
mouth1 / 6705214
muscle2 / 10771518
nerve1 / 1576863
ovary3 / 10205129
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate3 / 18934515
salivary gland0 / 201550 
skin2 / 2105749
spleen3 / 5395255
stomach2 / 9661920
testis14 / 33044242
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206800_at
Cell line Expression level Expression bar
721_B_lymphoblasts29.65
Adipocyte24.7
AdrenalCortex26.75
Adrenalgland21.55
Amygdala26.1
Appendix25.85
AtrioventricularNode18.9
BDCA4+_DentriticCells17.7
Bonemarrow25.8
BronchialEpithelialCells24.25
CD105+_Endothelial24.85
CD14+_Monocytes26.3
CD19+_BCells(neg._sel.)25.95
CD33+_Myeloid24.75
CD34+30.6
CD4+_Tcells26.25
CD56+_NKCells27.65
CD71+_EarlyErythroid23.25
CD8+_Tcells23.35
CardiacMyocytes34.75
Caudatenucleus22.35
Cerebellum22.8
CerebellumPeduncles28.65
CiliaryGanglion18.3
CingulateCortex25.45
Colorectaladenocarcinoma24.9
DorsalRootGanglion18.95
FetalThyroid24.2
Fetalbrain24.95
Fetalliver23.85
Fetallung20.75
GlobusPallidus18.3
Heart36.65
Hypothalamus26.7
Kidney21.7
Leukemia_chronicMyelogenousK-56223
Leukemia_promyelocytic-HL-6022
Leukemialymphoblastic(MOLT-4)19.9
Liver35.7
Lung27.15
Lymphnode21.7
Lymphoma_burkitts(Daudi)31.7
Lymphoma_burkitts(Raji)39.25
MedullaOblongata23.3
OccipitalLobe22.3
OlfactoryBulb19.75
Ovary17.95
Pancreas19.95
PancreaticIslet26.6
ParietalLobe26.55
Pituitary34.15
Placenta26.6
Pons23.55
PrefrontalCortex31.05
Prostate29.25
Salivarygland19.7
SkeletalMuscle34.25
Skin19.3
SmoothMuscle28.2
Spinalcord26.65
SubthalamicNucleus22.45
SuperiorCervicalGanglion29.75
TemporalLobe22.9
Testis22.1
TestisGermCell20.6
TestisIntersitial20.75
TestisLeydigCell25
TestisSeminiferousTubule24.1
Thalamus25.2
Thymus19.55
Thyroid31.35
Tongue24.3
Tonsil26.15
Trachea20.95
TrigeminalGanglion25.65
Uterus20.6
UterusCorpus22.85
WholeBlood27.4
Wholebrain21.25
colon25.25
pineal_day28.06
pineal_night28.28
retina30.575
small_intestine24.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P400078
  • 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
Amygdala4.68 ± 0.7
Basal Forebrain4.73 ± 0.35
Basal Part of Pons4.82 ± 0.46
Cerebellar Cortex5.23 ± 0.29
Cerebellar Nuclei4.45 ± 0.48
Claustrum4.63 ± 0.73
Epithalamus4.24 ± 0.56
Frontal Lobe4.86 ± 0.51
Globus Pallidus3.97 ± 0.47
Hypothalamus4.74 ± 0.59
Insula5.15 ± 0.43
Limbic Lobe4.93 ± 0.53
Mesencephalon4.92 ± 0.53
Myelencephalon4.83 ± 0.52
Occipital Lobe4.87 ± 0.43
Parietal Lobe4.91 ± 0.42
Pontine Tegmentum4.82 ± 0.51
Striatum4.51 ± 0.52
Subthalamus4.85 ± 0.31
Temporal Lobe5.02 ± 0.39
Thalamus4.7 ± 0.47
White Matter4.28 ± 0.52
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
MthfrCBCerebellum37.95
46.9
MthfrCTXCerebral cortex85.62
61.48
MthfrHIPHippocampal region51.91
68.12
MthfrHPFHippocampal formation62.59
65.99
MthfrHYHypothalamus69.21
56.55
MthfrLSXLateral septal complex65.28
43.89
MthfrMBMidbrain46.07
39.56
MthfrMYMedulla58.46
61.44
MthfrOLFOlfactory bulb89.83
71.57
MthfrPPons47.89
50.92
MthfrPALPallidum44.74
37.41
MthfrRHPRetrohippocampal region84.91
66.52
MthfrsAMYStriatum-like amygdalar nuclei79.98
59.74
MthfrSTRStriatum67.86
46.95
MthfrSTRdStriatum dorsal region66.32
45.1
MthfrSTRvStriatum ventral region66.33
45.04
MthfrTHThalamus87.9
76.53
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MTHR_HUMAN_270 18 270 287 LSKLEVPQEIKDVIEPIK PRIDE
MTHR_HUMAN_336 9 336 344 LGMWTEDPR PRIDE
PAp00066227 17 609 625 EIIQPTVVDPVSFMFWK 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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