AutismKB

Evidence Detail for MARK1


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Basic Information Top
Gene Symbol:MARK1 ( KIAA1477,MARK,MGC126512,MGC126513 )
Gene Full Name: MAP/microtubule affinity-regulating kinase 1
Band: 1q41
Quick LinksEntrez ID:4139; OMIM: 606511; Uniprot ID:MARK1_HUMAN; ENSEMBL ID: ENSG00000116141
Sequences Top
>MARK1|4139|nucleotide
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>MARK1|4139|protein
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Evidence Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
Evidences Syndromic Gene GWAS Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 1 (1) 0 (0) 0 (0) 2 (2) 3 (4) 28 (7)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 2
Case Control Based Association Studies: 0
Reference Population #SNPs/ #VNTRs ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Maussion, 2008_1 mouse neuroblastoma N18 cell line--- genotype-phenotype interaction
  • Subjects: -
  • Normal Controls: -
  • Methods: N18 cell line culture, transfection and luciferase assay
  • Evidence Details: ASD-associated SNP rs12410279 modulates the level of expression of MARK1
Maussion, 2008_2 human frontal cortex (BA46)--AD RNA expression
  • Subjects: 9
  • Normal Controls: 8
  • Methods: QRT-PCR
  • Evidence Details: We found that MARK1 was overexpressed in the prefrontal cortex (BA46) but not in cerebellar granule cells, on postmortem brain tissues from patients.
Maussion, 2008_3 human cerebellum (lobule 6)--AD RNA expression
  • Subjects: 9
  • Normal Controls: 8
  • Methods: QRT-PCR
  • Evidence Details: We found that MARK1 was overexpressed in the prefrontal cortex (BA46) but not in cerebellar granule cells, on postmortem brain tissues from patients.
Maussion, 2008_4 human ---- evolution analysis
  • Subjects: -
  • Normal Controls: -
  • Methods: evolution analysis
  • Evidence Details: MARK1 displayed an accelerated evolution along the lineage leading to humans, suggesting possible involvement of this gene in cognition.
Maussion, 2008_5 mouse E14 mouse telencephalic neurons--- protein function
  • Subjects: -
  • Normal Controls: -
  • Methods: Time-lapse video microscopy
  • Evidence Details: MARK1 encodes a kinase-regulating microtubule-dependent transport in axons and dendrites. Both overexpression and silencing of MARK1 resulted in significantly shorter dendrite length in mouse neocortical neurons and modified dendritic transport speed. As expected for a gene encoding a key polarity determinant Par-1 protein kinase, MARK1 is involved in axon-dendrite specification. Thus, MARK1 overexpression in humans may be responsible for subtle changes in dendritic functioning.
Carayol, 2011_1 human bloodASD genetic score model
  • Subjects: 844(664 males and 179 females)
  • Normal Controls: -
  • Methods: TaqMan allele discrimination assays
  • Evidence Details: Our results demonstrate that individual susceptibility associated SNPs for autism may have important differential sex effects.
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Hu, 2009_1 mixed lymphoblastoid cell lines 21
(-)
autism with nonaffected sib pairsautism 17
(-)
1.14 Up -
  • Platform: TIGR 40K Human Set
  • ProbeSet: -
  • RefSeq_ID/ EST: R56894
  • GEO_ID: GSE15402
  • Statistic Method: PCA; SAM by MEV with FDR<0.05
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
Linkage Studies Top

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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