AutismKB 2.0

Annotation Detail for MKS1


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Basic Information Top
Gene Symbol:MKS1 ( BBS13,FLJ20345,MES,MKS,POC12 )
Gene Full Name: Meckel syndrome, type 1
Band: 17q22
Quick LinksEntrez ID:54903; OMIM: 609883; Uniprot ID:MKS1_HUMAN; ENSEMBL ID: ENSG00000011143; HGNC ID: 7121
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 body2 / 7076128
blastocyst3 / 6231948
fetus19 / 56401233
neonate0 / 310970 
infant1 / 2362042
juvenile5 / 5555689
adult53 / 193912127
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma4 / 8282348
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor10 / 26384537
glioma2 / 10688318
head and neck tumor3 / 13630222
kidney tumor3 / 6895943
leukemia5 / 9584252
liver tumor3 / 9635931
lung tumor10 / 10312796
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal75 / 336030722
ovarian tumor4 / 7668252
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS24 / 125680190
prostate cancer3 / 10268029
retinoblastoma4 / 4635686
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites7 / 40015174
bladder0 / 297570 
blood1 / 1234788
bone2 / 7165527
bone marrow3 / 4880161
brain22 / 110098919
cervix8 / 48171166
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye7 / 21105433
heart1 / 8962611
intestine7 / 23447229
kidney8 / 21177737
larynx0 / 241450 
liver4 / 20774319
lung16 / 33697447
lymph0 / 442700 
lymph node1 / 9161010
mammary gland2 / 15327113
mouth1 / 6705214
muscle3 / 10771527
nerve0 / 157680 
ovary7 / 10205168
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta7 / 28082524
prostate7 / 18934536
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach2 / 9661920
testis15 / 33044245
thymus3 / 8113136
thyroid2 / 4747342
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218630_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.05
Adipocyte3.15
AdrenalCortex3.2
Adrenalgland2.65
Amygdala3.25
Appendix3.25
AtrioventricularNode2.3
BDCA4+_DentriticCells3.6
Bonemarrow3.15
BronchialEpithelialCells3.1
CD105+_Endothelial3.4
CD14+_Monocytes3.4
CD19+_BCells(neg._sel.)3.4
CD33+_Myeloid4.1
CD34+4.05
CD4+_Tcells3.45
CD56+_NKCells4.1
CD71+_EarlyErythroid2.9
CD8+_Tcells3.1
CardiacMyocytes3.9
Caudatenucleus2.8
Cerebellum2.6
CerebellumPeduncles3.5
CiliaryGanglion2.35
CingulateCortex3.2
Colorectaladenocarcinoma3.15
DorsalRootGanglion2.35
FetalThyroid3
Fetalbrain3.15
Fetalliver2.75
Fetallung2.65
GlobusPallidus2.25
Heart3.95
Hypothalamus3.45
Kidney2.5
Leukemia_chronicMyelogenousK-5622.85
Leukemia_promyelocytic-HL-602.75
Leukemialymphoblastic(MOLT-4)2.55
Liver4.05
Lung3.5
Lymphnode2.7
Lymphoma_burkitts(Daudi)3.95
Lymphoma_burkitts(Raji)4.3
MedullaOblongata2.85
OccipitalLobe2.85
OlfactoryBulb2.5
Ovary2.05
Pancreas2.55
PancreaticIslet3.35
ParietalLobe3.35
Pituitary3.7
Placenta3.25
Pons2.95
PrefrontalCortex3.9
Prostate3.7
Salivarygland2.5
SkeletalMuscle3.9
Skin2.35
SmoothMuscle3.55
Spinalcord3.4
SubthalamicNucleus2.8
SuperiorCervicalGanglion3.5
TemporalLobe2.85
Testis2.7
TestisGermCell2.7
TestisIntersitial2.65
TestisLeydigCell3.1
TestisSeminiferousTubule2.75
Thalamus3.2
Thymus2.5
Thyroid3.95
Tongue3.05
Tonsil3.05
Trachea2.6
TrigeminalGanglion3.05
Uterus2.6
UterusCorpus2.75
WholeBlood3.45
Wholebrain2.65
colon3.15
pineal_day3.98
pineal_night3.92
retina3.875
small_intestine3.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P330796
  • 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
Amygdala2.27 ± 1.05
Basal Forebrain1.74 ± 0.22
Basal Part of Pons1.56 ± 0.37
Cerebellar Cortex1.97 ± 0.87
Cerebellar Nuclei2.14 ± 0.69
Claustrum2.45 ± 0.69
Epithalamus1.71 ± 0.61
Frontal Lobe1.94 ± 0.77
Globus Pallidus2.11 ± 0.52
Hypothalamus2.21 ± 0.85
Insula1.75 ± 0.5
Limbic Lobe1.81 ± 0.68
Mesencephalon2.02 ± 0.73
Myelencephalon1.9 ± 0.66
Occipital Lobe1.58 ± 0.54
Parietal Lobe1.77 ± 0.67
Pontine Tegmentum1.9 ± 0.67
Striatum1.72 ± 0.66
Subthalamus1.96 ± 0.7
Temporal Lobe1.8 ± 0.68
Thalamus1.77 ± 0.64
White Matter1.88 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mks1CBCerebellum6.33
7.37
Mks1CTXCerebral cortex4.63
3.86
Mks1HIPHippocampal region4.29
4.48
Mks1HPFHippocampal formation4.46
4.1
Mks1HYHypothalamus3.32
2.72
Mks1LSXLateral septal complex3.52
5.3
Mks1MBMidbrain2.37
2.87
Mks1MYMedulla9.04
10.24
Mks1OLFOlfactory bulb11.93
10.55
Mks1PPons4.03
4.59
Mks1PALPallidum2.3
1.88
Mks1RHPRetrohippocampal region4.85
3.62
Mks1sAMYStriatum-like amygdalar nuclei1.13
0.73
Mks1STRStriatum2.02
2.01
Mks1STRdStriatum dorsal region1.74
1.91
Mks1STRvStriatum ventral region2.86
1.83
Mks1THThalamus3.17
2.71
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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