AutismKB 2.0

Annotation Detail for MFN1


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Basic Information Top
Gene Symbol:MFN1 ( DKFZp762F247,FLJ20693,MGC41806,hfzo1,hfzo2 )
Gene Full Name: mitofusin 1
Band: 3q26.33
Quick LinksEntrez ID:55669; OMIM: 608506; Uniprot ID:MFN1_HUMAN; ENSEMBL ID: ENSG00000171109; HGNC ID: 18262
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 body4 / 7076156
blastocyst5 / 6231980
fetus20 / 56401235
neonate4 / 31097128
infant1 / 2362042
juvenile1 / 5555617
adult78 / 193912140
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor10 / 94178106
cervical tumor3 / 3436687
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor16 / 26384560
glioma1 / 1068839
head and neck tumor10 / 13630273
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal145 / 336030743
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor6 / 12519147
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 
ascites5 / 40015124
bladder1 / 2975733
blood2 / 12347816
bone1 / 7165513
bone marrow4 / 4880181
brain40 / 110098936
cervix3 / 4817162
connective tissue9 / 14925560
ear2 / 16212123
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye4 / 21105418
heart2 / 8962622
intestine7 / 23447229
kidney4 / 21177718
larynx0 / 241450 
liver5 / 20774324
lung7 / 33697420
lymph1 / 4427022
lymph node7 / 9161076
mammary gland10 / 15327165
mouth7 / 67052104
muscle3 / 10771527
nerve1 / 1576863
ovary3 / 10205129
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta11 / 28082539
prostate5 / 18934526
salivary gland0 / 201550 
skin34 / 210574161
spleen1 / 5395218
stomach3 / 9661931
testis22 / 33044266
thymus5 / 8113161
thyroid1 / 4747321
tonsil0 / 169990 
trachea20 / 52413381
umbilical cord0 / 136800 
uterus6 / 23287825
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211801_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.85
Adipocyte6.35
AdrenalCortex7.45
Adrenalgland5.45
Amygdala6.75
Appendix7.7
AtrioventricularNode5.5
BDCA4+_DentriticCells7.1
Bonemarrow6.3
BronchialEpithelialCells6.35
CD105+_Endothelial6.5
CD14+_Monocytes6.85
CD19+_BCells(neg._sel.)7.9
CD33+_Myeloid8.2
CD34+7.95
CD4+_Tcells6.95
CD56+_NKCells7.3
CD71+_EarlyErythroid6
CD8+_Tcells6.2
CardiacMyocytes8.15
Caudatenucleus5.75
Cerebellum5.15
CerebellumPeduncles7.25
CiliaryGanglion4.85
CingulateCortex6.55
Colorectaladenocarcinoma6.4
DorsalRootGanglion5.25
FetalThyroid6.2
Fetalbrain6.4
Fetalliver5.5
Fetallung5.3
GlobusPallidus4.75
Heart8.3
Hypothalamus6.9
Kidney5.15
Leukemia_chronicMyelogenousK-5625.75
Leukemia_promyelocytic-HL-608.1
Leukemialymphoblastic(MOLT-4)5.1
Liver8.5
Lung6.9
Lymphnode5.5
Lymphoma_burkitts(Daudi)8.55
Lymphoma_burkitts(Raji)10.1
MedullaOblongata5.9
OccipitalLobe5.75
OlfactoryBulb5.05
Ovary4.75
Pancreas5.15
PancreaticIslet6.85
ParietalLobe6.85
Pituitary7.55
Placenta6.2
Pons6.2
PrefrontalCortex8
Prostate7.35
Salivarygland5.35
SkeletalMuscle7.55
Skin5.55
SmoothMuscle7.3
Spinalcord6.85
SubthalamicNucleus5.8
SuperiorCervicalGanglion7.8
TemporalLobe6
Testis5.5
TestisGermCell5.3
TestisIntersitial5.4
TestisLeydigCell6.35
TestisSeminiferousTubule5.5
Thalamus6.5
Thymus5
Thyroid7.8
Tongue6.8
Tonsil6.3
Trachea5.35
TrigeminalGanglion6.5
Uterus5.25
UterusCorpus5.9
WholeBlood6.95
Wholebrain5.25
colon6.45
pineal_day7.98
pineal_night7.7
retina7.6
small_intestine6.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P43765
  • 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
Amygdala9.11 ± 0.35
Basal Forebrain8.93 ± 0.3
Basal Part of Pons8.65 ± 0.3
Cerebellar Cortex9.07 ± 0.25
Cerebellar Nuclei8.79 ± 0.19
Claustrum9.34 ± 0.41
Epithalamus8.82 ± 0.16
Frontal Lobe8.71 ± 0.33
Globus Pallidus8.77 ± 0.4
Hypothalamus8.71 ± 0.18
Insula8.82 ± 0.3
Limbic Lobe8.96 ± 0.37
Mesencephalon8.96 ± 0.31
Myelencephalon8.87 ± 0.34
Occipital Lobe9.18 ± 0.39
Parietal Lobe8.87 ± 0.32
Pontine Tegmentum8.82 ± 0.27
Striatum8.56 ± 0.28
Subthalamus8.71 ± 0.12
Temporal Lobe8.8 ± 0.29
Thalamus8.88 ± 0.24
White Matter9.49 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mfn1CBCerebellum0
0
Mfn1CTXCerebral cortex0
0
Mfn1HIPHippocampal region0
0
Mfn1HPFHippocampal formation0
0
Mfn1HYHypothalamus0
0
Mfn1LSXLateral septal complex0
0
Mfn1MBMidbrain0
0
Mfn1MYMedulla0
0
Mfn1OLFOlfactory bulb0
0
Mfn1PPons0
0
Mfn1PALPallidum0
0
Mfn1RHPRetrohippocampal region0
0
Mfn1sAMYStriatum-like amygdalar nuclei0
0
Mfn1STRStriatum0
0
Mfn1STRdStriatum dorsal region0
0
Mfn1STRvStriatum ventral region0
0
Mfn1THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00010947 15 656 670 MIVSSTSANCSHQVK 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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