AutismKB 2.0

Annotation Detail for MTHFSD


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Basic Information Top
Gene Symbol:MTHFSD ( FLJ12998,FLJ13893,MGC138262,MGC138264,MGC177233 )
Gene Full Name: methenyltetrahydrofolate synthetase domain containing
Band: 16q24.1
Quick LinksEntrez ID:64779; OMIM: NA; Uniprot ID:MTHSD_HUMAN; ENSEMBL ID: ENSG00000103248; HGNC ID: 25778
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 body0 / 707610 
blastocyst1 / 6231916
fetus17 / 56401230
neonate2 / 3109764
infant1 / 2362042
juvenile0 / 555560 
adult42 / 193912121
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 tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor3 / 11424626
esophageal tumor2 / 17290115
gastrointestinal tumor3 / 11936925
germ cell tumor12 / 26384545
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor3 / 10312729
lymphoma3 / 7175541
non-neoplasia3 / 9725030
normal93 / 336030727
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
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 
ascites2 / 4001549
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow4 / 4880181
brain22 / 110098919
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus2 / 2020998
eye0 / 2110540 
heart5 / 8962655
intestine7 / 23447229
kidney6 / 21177728
larynx0 / 241450 
liver0 / 2077430 
lung8 / 33697423
lymph1 / 4427022
lymph node10 / 91610109
mammary gland1 / 1532716
mouth3 / 6705244
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta13 / 28082546
prostate4 / 18934521
salivary gland0 / 201550 
skin4 / 21057418
spleen3 / 5395255
stomach2 / 9661920
testis19 / 33044257
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218879_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.9
Adipocyte5.65
AdrenalCortex5.05
Adrenalgland4.05
Amygdala4.75
Appendix4.9
AtrioventricularNode6.85
BDCA4+_DentriticCells7.75
Bonemarrow4.7
BronchialEpithelialCells4.55
CD105+_Endothelial6.3
CD14+_Monocytes5.9
CD19+_BCells(neg._sel.)5.3
CD33+_Myeloid5.95
CD34+10.05
CD4+_Tcells5.7
CD56+_NKCells5.95
CD71+_EarlyErythroid4.45
CD8+_Tcells6.85
CardiacMyocytes6.05
Caudatenucleus4.25
Cerebellum3.85
CerebellumPeduncles5.2
CiliaryGanglion3.75
CingulateCortex4.8
Colorectaladenocarcinoma4.7
DorsalRootGanglion3.9
FetalThyroid4.55
Fetalbrain4.5
Fetalliver4.15
Fetallung3.8
GlobusPallidus3.55
Heart6.1
Hypothalamus5.05
Kidney4.05
Leukemia_chronicMyelogenousK-5624.55
Leukemia_promyelocytic-HL-604.7
Leukemialymphoblastic(MOLT-4)3.7
Liver6.6
Lung5.55
Lymphnode4
Lymphoma_burkitts(Daudi)6.15
Lymphoma_burkitts(Raji)7.05
MedullaOblongata4.2
OccipitalLobe4.1
OlfactoryBulb3.65
Ovary3.2
Pancreas3.9
PancreaticIslet5.1
ParietalLobe5.1
Pituitary7.45
Placenta4.75
Pons4.6
PrefrontalCortex5.8
Prostate5.45
Salivarygland3.85
SkeletalMuscle5.75
Skin3.8
SmoothMuscle5.65
Spinalcord5.15
SubthalamicNucleus4.4
SuperiorCervicalGanglion6.1
TemporalLobe4.5
Testis10.3
TestisGermCell4
TestisIntersitial9
TestisLeydigCell6.9
TestisSeminiferousTubule5.25
Thalamus4.75
Thymus3.7
Thyroid5.9
Tongue4.9
Tonsil4.6
Trachea3.9
TrigeminalGanglion4.95
Uterus3.8
UterusCorpus5.1
WholeBlood5
Wholebrain3.8
colon4.7
pineal_day5.86
pineal_night5.72
retina6.4
small_intestine4.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P159625
  • 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
Amygdala2.08 ± 1.16
Basal Forebrain1.54 ± 0.27
Basal Part of Pons1.2 ± 0.39
Cerebellar Cortex1.54 ± 0.47
Cerebellar Nuclei1.93 ± 0.78
Claustrum2.35 ± 0.8
Epithalamus1.27 ± 0.79
Frontal Lobe1.56 ± 0.75
Globus Pallidus2.17 ± 0.61
Hypothalamus1.64 ± 0.76
Insula1.4 ± 0.79
Limbic Lobe1.56 ± 0.73
Mesencephalon1.82 ± 0.76
Myelencephalon1.64 ± 0.72
Occipital Lobe1.73 ± 0.76
Parietal Lobe1.69 ± 0.77
Pontine Tegmentum1.73 ± 0.81
Striatum1.75 ± 1.03
Subthalamus2.22 ± 1
Temporal Lobe1.57 ± 0.73
Thalamus1.53 ± 0.62
White Matter2.39 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
MthfsdSTRdStriatum dorsal region15.55
10.25
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MTHSD_HUMAN_227 16 227 242 ISLEMMEKIPILRSLR PRIDE
PAp00095325 22 344 365 AFLHYPDSAAAQQAVSCLQGLR 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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