AutismKB 2.0

Annotation Detail for MSH6


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Basic Information Top
Gene Symbol:MSH6 ( GTBP,HNPCC5,HSAP )
Gene Full Name: mutS homolog 6 (E. coli)
Band: 2p16.3
Quick LinksEntrez ID:2956; OMIM: 600678; Uniprot ID:MSH6_HUMAN; ENSEMBL ID: ENSG00000116062; HGNC ID: 7329
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 body16 / 70761226
blastocyst17 / 62319272
fetus33 / 56401258
neonate2 / 3109764
infant2 / 2362084
juvenile3 / 5555653
adult162 / 193912183
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor8 / 9417884
cervical tumor2 / 3436658
chondrosarcoma7 / 8282384
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor9 / 11936975
germ cell tumor54 / 263845204
glioma3 / 10688328
head and neck tumor8 / 13630258
kidney tumor2 / 6895929
leukemia4 / 9584241
liver tumor9 / 9635993
lung tumor7 / 10312767
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal223 / 336030766
ovarian tumor9 / 76682117
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer7 / 10268068
retinoblastoma8 / 46356172
skin tumor14 / 124949112
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites6 / 40015149
bladder4 / 29757134
blood4 / 12347832
bone6 / 7165583
bone marrow4 / 4880181
brain52 / 110098947
cervix4 / 4817183
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue45 / 215722208
esophagus1 / 2020949
eye36 / 211054170
heart7 / 8962678
intestine8 / 23447234
kidney9 / 21177742
larynx3 / 24145124
liver16 / 20774377
lung19 / 33697456
lymph0 / 442700 
lymph node13 / 91610141
mammary gland10 / 15327165
mouth1 / 6705214
muscle6 / 10771555
nerve1 / 1576863
ovary11 / 102051107
pancreas6 / 21481227
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta27 / 28082596
prostate9 / 18934547
salivary gland0 / 201550 
skin16 / 21057475
spleen3 / 5395255
stomach6 / 9661962
testis72 / 330442217
thymus5 / 8113161
thyroid4 / 4747384
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord1 / 1368073
uterus20 / 23287885
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211450_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts170.2
Adipocyte4.3
AdrenalCortex4.8
Adrenalgland3.7
Amygdala4.5
Appendix4.5
AtrioventricularNode3.55
BDCA4+_DentriticCells16.75
Bonemarrow4.5
BronchialEpithelialCells4.35
CD105+_Endothelial23.15
CD14+_Monocytes4.65
CD19+_BCells(neg._sel.)4.6
CD33+_Myeloid6.5
CD34+129.25
CD4+_Tcells5.8
CD56+_NKCells6.5
CD71+_EarlyErythroid19.5
CD8+_Tcells7
CardiacMyocytes6.25
Caudatenucleus3.9
Cerebellum3.55
CerebellumPeduncles5
CiliaryGanglion3.25
CingulateCortex4.5
Colorectaladenocarcinoma8.15
DorsalRootGanglion3.5
FetalThyroid4.25
Fetalbrain4.35
Fetalliver4.3
Fetallung3.55
GlobusPallidus3.25
Heart5.9
Hypothalamus4.65
Kidney3.65
Leukemia_chronicMyelogenousK-5624.65
Leukemia_promyelocytic-HL-6022.85
Leukemialymphoblastic(MOLT-4)22.95
Liver5.95
Lung4.75
Lymphnode3.7
Lymphoma_burkitts(Daudi)28.95
Lymphoma_burkitts(Raji)6.45
MedullaOblongata4
OccipitalLobe3.9
OlfactoryBulb3.45
Ovary3
Pancreas3.55
PancreaticIslet4.7
ParietalLobe4.75
Pituitary5.15
Placenta4.45
Pons4.25
PrefrontalCortex5.35
Prostate5.1
Salivarygland3.6
SkeletalMuscle5.45
Skin3.45
SmoothMuscle6.05
Spinalcord4.65
SubthalamicNucleus4.05
SuperiorCervicalGanglion5.15
TemporalLobe4.05
Testis4.25
TestisGermCell7.85
TestisIntersitial6.3
TestisLeydigCell6.75
TestisSeminiferousTubule3.8
Thalamus4.45
Thymus3.4
Thyroid5.45
Tongue4.4
Tonsil5.55
Trachea3.65
TrigeminalGanglion4.6
Uterus4.45
UterusCorpus4.4
WholeBlood4.75
Wholebrain3.6
colon4.4
pineal_day5.42
pineal_night5.3
retina5.325
small_intestine4.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15605_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
Amygdala6.37 ± 0.37
Basal Forebrain6.73 ± 0.31
Basal Part of Pons6.67 ± 0.32
Cerebellar Cortex7.06 ± 0.13
Cerebellar Nuclei7.03 ± 0.5
Claustrum6.35 ± 0.63
Epithalamus7.23 ± 0.28
Frontal Lobe6.76 ± 0.36
Globus Pallidus7.03 ± 0.37
Hypothalamus6.87 ± 0.29
Insula6.73 ± 0.19
Limbic Lobe6.46 ± 0.32
Mesencephalon6.66 ± 0.43
Myelencephalon6.69 ± 0.4
Occipital Lobe6.54 ± 0.31
Parietal Lobe6.64 ± 0.4
Pontine Tegmentum6.82 ± 0.33
Striatum6.52 ± 0.35
Subthalamus7.02 ± 0.37
Temporal Lobe6.68 ± 0.3
Thalamus6.75 ± 0.36
White Matter8.08 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Msh6CBCerebellum13.77
14.23
Msh6CTXCerebral cortex7.66
5.7
Msh6HIPHippocampal region11.21
10.31
Msh6HPFHippocampal formation10.22
8.64
Msh6HYHypothalamus1.41
1.22
Msh6LSXLateral septal complex1.51
1.09
Msh6MBMidbrain5.21
4.88
Msh6MYMedulla14.27
16.74
Msh6OLFOlfactory bulb12.45
9.38
Msh6PPons9.07
10.21
Msh6PALPallidum2.4
2.11
Msh6RHPRetrohippocampal region9.01
6.65
Msh6sAMYStriatum-like amygdalar nuclei0.44
0.32
Msh6STRStriatum1.68
1.35
Msh6STRdStriatum dorsal region1.23
1.16
Msh6STRvStriatum ventral region3.64
2.33
Msh6THThalamus3.54
3.01
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MSH6_HUMAN_1077 19 1077 1095 PVILLPEDTPPFLELKGSR PRIDE
MSH6_HUMAN_129 12 129 140 VHVQFFDDSPTR PRIDE
MSH6_HUMAN_722 11 722 732 SGAIFTKAYQR PRIDE
PAp00063258 36 339 374 AFSAPQNSESQAHVSGGGDDSSRPTVWYHETLEWLK 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