AutismKB 2.0

Annotation Detail for MSH5


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Basic Information Top
Gene Symbol:MSH5 ( DKFZp434C1615,G7,MGC2939,MUTSH5,NG23 )
Gene Full Name: mutS homolog 5 (E. coli)
Band: 6p21.33
Quick LinksEntrez ID:4439; OMIM: 603382; Uniprot ID:MSH5_HUMAN; ENSEMBL ID: ENSG00000204410; HGNC ID: 7328
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
blastocyst6 / 6231996
fetus13 / 56401223
neonate1 / 3109732
infant0 / 236200 
juvenile3 / 5555653
adult49 / 193912125
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor0 / 941780 
cervical tumor2 / 3436658
chondrosarcoma0 / 828230 
colorectal tumor8 / 11424670
esophageal tumor1 / 1729057
gastrointestinal tumor9 / 11936975
germ cell tumor8 / 26384530
glioma2 / 10688318
head and neck tumor6 / 13630244
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor3 / 10312729
lymphoma5 / 7175569
non-neoplasia0 / 972500 
normal63 / 336030718
ovarian tumor3 / 7668239
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor9 / 9025799
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 
blood1 / 1234788
bone2 / 7165527
bone marrow1 / 4880120
brain7 / 11009896
cervix2 / 4817141
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus1 / 2020949
eye3 / 21105414
heart0 / 896260 
intestine13 / 23447255
kidney4 / 21177718
larynx0 / 241450 
liver4 / 20774319
lung6 / 33697417
lymph1 / 4427022
lymph node4 / 9161043
mammary gland1 / 1532716
mouth6 / 6705289
muscle3 / 10771527
nerve0 / 157680 
ovary4 / 10205139
pancreas13 / 21481260
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta2 / 2808257
prostate6 / 18934531
salivary gland1 / 2015549
skin4 / 21057418
spleen2 / 5395237
stomach9 / 9661993
testis19 / 33044257
thymus9 / 81131110
thyroid0 / 474730 
tonsil1 / 1699958
trachea3 / 5241357
umbilical cord0 / 136800 
uterus13 / 23287855
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210410_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts128.4
Adipocyte6.05
AdrenalCortex7.75
Adrenalgland5.3
Amygdala6.3
Appendix6.25
AtrioventricularNode5.1
BDCA4+_DentriticCells11.4
Bonemarrow6.4
BronchialEpithelialCells5.95
CD105+_Endothelial6.4
CD14+_Monocytes6.7
CD19+_BCells(neg._sel.)16.25
CD33+_Myeloid8.15
CD34+67.95
CD4+_Tcells6.7
CD56+_NKCells10.3
CD71+_EarlyErythroid6.1
CD8+_Tcells6
CardiacMyocytes9.6
Caudatenucleus5.55
Cerebellum5.1
CerebellumPeduncles7.2
CiliaryGanglion4.65
CingulateCortex6.5
Colorectaladenocarcinoma6.35
DorsalRootGanglion5.4
FetalThyroid6.1
Fetalbrain5.95
Fetalliver5.45
Fetallung4.8
GlobusPallidus4.85
Heart9.05
Hypothalamus6.55
Kidney5.25
Leukemia_chronicMyelogenousK-56212.75
Leukemia_promyelocytic-HL-606.4
Leukemialymphoblastic(MOLT-4)17.55
Liver8.75
Lung6.8
Lymphnode5.35
Lymphoma_burkitts(Daudi)8.6
Lymphoma_burkitts(Raji)10.2
MedullaOblongata5.6
OccipitalLobe5.6
OlfactoryBulb4.95
Ovary4.25
Pancreas5
PancreaticIslet6.65
ParietalLobe6.85
Pituitary7.2
Placenta6.25
Pons6
PrefrontalCortex7.45
Prostate7.1
Salivarygland5.1
SkeletalMuscle8.4
Skin4.95
SmoothMuscle7
Spinalcord6.6
SubthalamicNucleus6
SuperiorCervicalGanglion7.45
TemporalLobe5.7
Testis9.35
TestisGermCell5.15
TestisIntersitial5.3
TestisLeydigCell7.35
TestisSeminiferousTubule7.65
Thalamus6.4
Thymus4.95
Thyroid7.55
Tongue6.2
Tonsil6.1
Trachea5.25
TrigeminalGanglion6.4
Uterus4.95
UterusCorpus5.75
WholeBlood6.7
Wholebrain5
colon6.25
pineal_day7.8
pineal_night7.6
retina7.6
small_intestine6.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1161_PI416573500
  • 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
Amygdala2.73 ± 0.78
Basal Forebrain2.46 ± 0.48
Basal Part of Pons1.83 ± 0.23
Cerebellar Cortex2.37 ± 0.71
Cerebellar Nuclei2.21 ± 0.51
Claustrum2.79 ± 0.51
Epithalamus3.05 ± 0.65
Frontal Lobe2.26 ± 0.6
Globus Pallidus3.06 ± 0.72
Hypothalamus2.33 ± 0.69
Insula2.13 ± 0.68
Limbic Lobe2.35 ± 0.68
Mesencephalon2.53 ± 0.64
Myelencephalon2.41 ± 0.66
Occipital Lobe2.57 ± 0.64
Parietal Lobe2.36 ± 0.67
Pontine Tegmentum2.29 ± 0.69
Striatum2.55 ± 0.65
Subthalamus2.02 ± 0.76
Temporal Lobe2.34 ± 0.66
Thalamus2.29 ± 0.65
White Matter3.31 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Msh5CBCerebellum3.25
4.07
Msh5CTXCerebral cortex0.96
1.55
Msh5HIPHippocampal region0.64
0.77
Msh5HPFHippocampal formation0.93
0.88
Msh5HYHypothalamus0.09
0.12
Msh5LSXLateral septal complex0.21
1.05
Msh5MBMidbrain0.24
0.42
Msh5MYMedulla1.88
2.25
Msh5OLFOlfactory bulb1.4
0.92
Msh5PPons0.33
0.35
Msh5PALPallidum0.08
0.06
Msh5RHPRetrohippocampal region1.58
1.16
Msh5sAMYStriatum-like amygdalar nuclei0.08
0.06
Msh5STRStriatum0.34
0.42
Msh5STRdStriatum dorsal region0.37
0.48
Msh5STRvStriatum ventral region0.46
0.31
Msh5THThalamus0.35
0.5
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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