AutismKB 2.0

Annotation Detail for MUT


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Basic Information Top
Gene Symbol:MUT ( MCM )
Gene Full Name: methylmalonyl CoA mutase
Band: 6p12.3
Quick LinksEntrez ID:4594; OMIM: 609058; Uniprot ID:MUTA_HUMAN; ENSEMBL ID: ENSG00000146085; HGNC ID: 7526
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 body3 / 7076142
blastocyst2 / 6231932
fetus59 / 564012104
neonate2 / 3109764
infant0 / 236200 
juvenile5 / 5555689
adult122 / 193912162
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma9 / 82823108
colorectal tumor1 / 1142468
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor7 / 26384526
glioma5 / 10688346
head and neck tumor11 / 13630280
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor9 / 9635993
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia3 / 9725030
normal279 / 336030783
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer3 / 10268029
retinoblastoma3 / 4635664
skin tumor5 / 12494940
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites1 / 4001524
bladder3 / 29757100
blood5 / 12347840
bone5 / 7165569
bone marrow0 / 488010 
brain98 / 110098989
cervix5 / 48171103
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus1 / 2020949
eye6 / 21105428
heart3 / 8962633
intestine7 / 23447229
kidney41 / 211777193
larynx0 / 241450 
liver41 / 207743197
lung9 / 33697426
lymph1 / 4427022
lymph node10 / 91610109
mammary gland12 / 15327178
mouth13 / 67052193
muscle4 / 10771537
nerve2 / 15768126
ovary2 / 10205119
pancreas4 / 21481218
parathyroid6 / 20539292
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta11 / 28082539
prostate12 / 18934563
salivary gland0 / 201550 
skin9 / 21057442
spleen5 / 5395292
stomach3 / 9661931
testis19 / 33044257
thymus3 / 8113136
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord1 / 1368073
uterus12 / 23287851
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202959_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.45
Adipocyte12
AdrenalCortex14.95
Adrenalgland9.65
Amygdala60.05
Appendix14.4
AtrioventricularNode11.85
BDCA4+_DentriticCells14
Bonemarrow11.55
BronchialEpithelialCells9.6
CD105+_Endothelial12.65
CD14+_Monocytes13.55
CD19+_BCells(neg._sel.)11.1
CD33+_Myeloid12.95
CD34+14.15
CD4+_Tcells11.65
CD56+_NKCells12.45
CD71+_EarlyErythroid11.35
CD8+_Tcells11.1
CardiacMyocytes14.15
Caudatenucleus12.4
Cerebellum7.9
CerebellumPeduncles13.2
CiliaryGanglion9.3
CingulateCortex15.4
Colorectaladenocarcinoma10.9
DorsalRootGanglion9.75
FetalThyroid11.75
Fetalbrain16.05
Fetalliver17.95
Fetallung11.35
GlobusPallidus11.75
Heart14.8
Hypothalamus28.05
Kidney9.55
Leukemia_chronicMyelogenousK-56211.1
Leukemia_promyelocytic-HL-608.9
Leukemialymphoblastic(MOLT-4)8.8
Liver16.1
Lung11.25
Lymphnode10.4
Lymphoma_burkitts(Daudi)14.55
Lymphoma_burkitts(Raji)14.85
MedullaOblongata22.1
OccipitalLobe17.35
OlfactoryBulb13.1
Ovary9.55
Pancreas11.6
PancreaticIslet13.1
ParietalLobe13.75
Pituitary15.7
Placenta9.55
Pons11.55
PrefrontalCortex34.7
Prostate14.25
Salivarygland9.7
SkeletalMuscle16.1
Skin10.05
SmoothMuscle12.3
Spinalcord15.6
SubthalamicNucleus11.9
SuperiorCervicalGanglion26.15
TemporalLobe17.4
Testis8.4
TestisGermCell17
TestisIntersitial10
TestisLeydigCell11.05
TestisSeminiferousTubule10
Thalamus12.35
Thymus6.65
Thyroid34.25
Tongue12.05
Tonsil11.15
Trachea9.35
TrigeminalGanglion14.25
Uterus19.9
UterusCorpus11.3
WholeBlood11.2
Wholebrain10.8
colon12.5
pineal_day47.36
pineal_night45.98
retina18.85
small_intestine12.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15600_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
Amygdala6.7 ± 0.29
Basal Forebrain6.79 ± 0.14
Basal Part of Pons6.69 ± 0.17
Cerebellar Cortex6.73 ± 0.28
Cerebellar Nuclei6.88 ± 0.31
Claustrum6.95 ± 0.31
Epithalamus6.6 ± 0.47
Frontal Lobe6.75 ± 0.33
Globus Pallidus6.85 ± 0.35
Hypothalamus7.03 ± 0.29
Insula6.78 ± 0.26
Limbic Lobe6.6 ± 0.28
Mesencephalon6.74 ± 0.41
Myelencephalon6.71 ± 0.31
Occipital Lobe6.6 ± 0.32
Parietal Lobe6.7 ± 0.27
Pontine Tegmentum6.83 ± 0.33
Striatum6.75 ± 0.27
Subthalamus6.73 ± 0.24
Temporal Lobe6.78 ± 0.28
Thalamus6.9 ± 0.22
White Matter7.13 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
MutCBCerebellum11.96
13.07
MutCTXCerebral cortex2.63
1.54
MutHIPHippocampal region5.28
6.76
MutHPFHippocampal formation4.14
4.56
MutHYHypothalamus0.32
0.17
MutLSXLateral septal complex0.19
0.13
MutMBMidbrain1.42
1.4
MutMYMedulla5.54
5.89
MutOLFOlfactory bulb2.51
1.07
MutPPons1.74
1.07
MutPALPallidum1.53
0.78
MutRHPRetrohippocampal region1.95
1.31
MutsAMYStriatum-like amygdalar nuclei1.75
0.54
MutSTRStriatum2.42
1.26
MutSTRdStriatum dorsal region2.99
1.7
MutSTRvStriatum ventral region1.29
0.49
MutTHThalamus2.6
3.52
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MUTA_HUMAN_514 12 514 525 QIEKLKKIKSSR PRIDE
PAp00009718 12 560 571 CTVGEITDALKK 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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