Evidence Details for MARK1
Basic Information Top
| Gene Symbol: | MARK1 ( KIAA1477,MARK,MGC126512,MGC126513 ) |
|---|---|
| Gene Full Name: | MAP/microtubule affinity-regulating kinase 1 |
| Band: | 1q41 |
| Quick Links | Entrez ID:4139; OMIM: 606511; Uniprot ID:MARK1_HUMAN; ENSEMBL ID: ENSG00000116141; HGNC ID: 6896 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>MARK1|4139|nucleotide
ATGTCGGCCCGGACGCCATTGCCGACGGTGAACGAGCGGGACACGGAAAATCATACATCTGTGGATGGATATACTGAACCACACATCCAGCCTACCAAGTCGAGT
AGCAGACAGAACATCCCCCGGTGTAGAAACTCCATTACGTCAGCAACAGATGAACAGCCTCACATTGGAAATTACCGTTTACAAAAAACAATAGGGAAGGGAAAT
TTTGCCAAAGTCAAATTGGCAAGACACGTTCTAACTGGTAGAGAGGTTGCTGTGAAAATAATAGACAAAACTCAGCTAAATCCTACCAGTCTACAAAAGTTATTT
CGAGAAGTACGAATAATGAAGATACTGAATCATCCTAATATAGTAAAATTGTTTGAAGTTATTGAAACAGAGAAGACTCTCTATTTAGTCATGGAATACGCGAGT
GGGGGTGAAGTATTTGATTACTTAGTTGCCCATGGAAGAATGAAAGAGAAAGAGGCCCGTGCAAAATTTAGGCAGATTGTATCTGCTGTACAGTATTGTCATCAA
AAGTACATTGTTCACCGTGATCTTAAGGCTGAAAACCTTCTCCTTGATGGTGATATGAATATTAAAATTGCTGACTTTGGTTTTAGTAATGAATTTACAGTTGGG
AACAAATTGGACACATTTTGTGGAAGCCCACCCTATGCTGCTCCCGAGCTTTTCCAAGGAAAGAAGTATGATGGGCCTGAAGTGGATGTGTGGAGTCTGGGCGTC
ATTCTCTATACATTAGTCAGTGGCTCCTTGCCTTTCGATGGCCAGAATTTAAAGGAACTGCGAGAGCGAGTTTTACGAGGGAAGTACCGTATTCCCTTCTATATG
TCCACAGACTGTGAAAATCTTCTGAAGAAATTATTAGTCCTGAATCCAATAAAGAGAGGCAGCTTGGAACAAATAATGAAAGATCGATGGATGAATGTTGGTCAT
GAAGAGGAAGAACTAAAGCCATATACTGAGCCTGATCCGGATTTCAATGACACAAAAAGAATAGACATTATGGTCACCATGGGCTTTGCACGAGATGAAATAAAT
GATGCCTTAATAAATCAGAAGTATGATGAAGTTATGGCTACTTATATTCTTCTAGGTAGAAAACCACCTGAATTTGAAGGTGGTGAATCGTTATCCAGTGGAAAC
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ATGTCGGCCCGGACGCCATTGCCGACGGTGAACGAGCGGGACACGGAAAATCATACATCTGTGGATGGATATACTGAACCACACATCCAGCCTACCAAGTCGAGT
AGCAGACAGAACATCCCCCGGTGTAGAAACTCCATTACGTCAGCAACAGATGAACAGCCTCACATTGGAAATTACCGTTTACAAAAAACAATAGGGAAGGGAAAT
TTTGCCAAAGTCAAATTGGCAAGACACGTTCTAACTGGTAGAGAGGTTGCTGTGAAAATAATAGACAAAACTCAGCTAAATCCTACCAGTCTACAAAAGTTATTT
CGAGAAGTACGAATAATGAAGATACTGAATCATCCTAATATAGTAAAATTGTTTGAAGTTATTGAAACAGAGAAGACTCTCTATTTAGTCATGGAATACGCGAGT
GGGGGTGAAGTATTTGATTACTTAGTTGCCCATGGAAGAATGAAAGAGAAAGAGGCCCGTGCAAAATTTAGGCAGATTGTATCTGCTGTACAGTATTGTCATCAA
AAGTACATTGTTCACCGTGATCTTAAGGCTGAAAACCTTCTCCTTGATGGTGATATGAATATTAAAATTGCTGACTTTGGTTTTAGTAATGAATTTACAGTTGGG
AACAAATTGGACACATTTTGTGGAAGCCCACCCTATGCTGCTCCCGAGCTTTTCCAAGGAAAGAAGTATGATGGGCCTGAAGTGGATGTGTGGAGTCTGGGCGTC
ATTCTCTATACATTAGTCAGTGGCTCCTTGCCTTTCGATGGCCAGAATTTAAAGGAACTGCGAGAGCGAGTTTTACGAGGGAAGTACCGTATTCCCTTCTATATG
TCCACAGACTGTGAAAATCTTCTGAAGAAATTATTAGTCCTGAATCCAATAAAGAGAGGCAGCTTGGAACAAATAATGAAAGATCGATGGATGAATGTTGGTCAT
GAAGAGGAAGAACTAAAGCCATATACTGAGCCTGATCCGGATTTCAATGACACAAAAAGAATAGACATTATGGTCACCATGGGCTTTGCACGAGATGAAATAAAT
GATGCCTTAATAAATCAGAAGTATGATGAAGTTATGGCTACTTATATTCTTCTAGGTAGAAAACCACCTGAATTTGAAGGTGGTGAATCGTTATCCAGTGGAAAC
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>MARK1|4139|protein
MSARTPLPTVNERDTENHTSVDGYTEPHIQPTKSSSRQNIPRCRNSITSATDEQPHIGNYRLQKTIGKGNFAKVKLARHVLTGREVAVKIIDKTQLNPTSLQKLF
REVRIMKILNHPNIVKLFEVIETEKTLYLVMEYASGGEVFDYLVAHGRMKEKEARAKFRQIVSAVQYCHQKYIVHRDLKAENLLLDGDMNIKIADFGFSNEFTVG
NKLDTFCGSPPYAAPELFQGKKYDGPEVDVWSLGVILYTLVSGSLPFDGQNLKELRERVLRGKYRIPFYMSTDCENLLKKLLVLNPIKRGSLEQIMKDRWMNVGH
EEEELKPYTEPDPDFNDTKRIDIMVTMGFARDEINDALINQKYDEVMATYILLGRKPPEFEGGESLSSGNLCQRSRPSSDLNNSTLQSPAHLKVQRSISANQKQR
RFSDHAGPSIPPAVSYTKRPQANSVESEQKEEWDKDVARKLGSTTVGSKSEMTASPLVGPERKKSSTIPSNNVYSGGSMARRNTYVCERTTDRYVALQNGKDSSL
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MSARTPLPTVNERDTENHTSVDGYTEPHIQPTKSSSRQNIPRCRNSITSATDEQPHIGNYRLQKTIGKGNFAKVKLARHVLTGREVAVKIIDKTQLNPTSLQKLF
REVRIMKILNHPNIVKLFEVIETEKTLYLVMEYASGGEVFDYLVAHGRMKEKEARAKFRQIVSAVQYCHQKYIVHRDLKAENLLLDGDMNIKIADFGFSNEFTVG
NKLDTFCGSPPYAAPELFQGKKYDGPEVDVWSLGVILYTLVSGSLPFDGQNLKELRERVLRGKYRIPFYMSTDCENLLKKLLVLNPIKRGSLEQIMKDRWMNVGH
EEEELKPYTEPDPDFNDTKRIDIMVTMGFARDEINDALINQKYDEVMATYILLGRKPPEFEGGESLSSGNLCQRSRPSSDLNNSTLQSPAHLKVQRSISANQKQR
RFSDHAGPSIPPAVSYTKRPQANSVESEQKEEWDKDVARKLGSTTVGSKSEMTASPLVGPERKKSSTIPSNNVYSGGSMARRNTYVCERTTDRYVALQNGKDSSL
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Evidence summary TopClick 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 | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (0) | 0 (0) | 0 (0) | 2 (2) | 1 (1) | 1 (3) | 0 (0) | 0 (0) | 2 (2) | 35 (8) |
Syndromic Autism Gene TopGenome-Wide Association Studies(By Ethnic Group) TopCNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) Top Family Based Association Studies: 2
| Reference | Source | Platform | #Families | Affecteds | Result | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
|||||
| CAUCASIAN | ||||||||||
| Maussion, 2008_1 | AGRE | SNPlex oligoligation assays | 116 | - (-) |  | | AD | - - |
- - | |
| Maussion, 2008_2 | AGRE | SNPlex oligoligation assays | 276 | 536 (-) | | | AD | - - |
- - | |
Case Control Based Association Studies: 0
| Reference | Source | Platfrom | ASD Cases | Normal Controls | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | |||||||||||
Large Scale Expression Studies Top Microarray Studies: 1
| Reference | Source | 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 pairs | autism | 17 (-) |
1.14 | Up | - | |
| ||||||||||||
Proteomics Studies:0
| Reference | Source | Tissue | Platform | #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Normal Controls(% Women) | |
|---|---|---|---|---|---|---|---|---|---|
| No Evidence. | |||||||||
NGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| De Rubeis S, 2014 | 2270 | - | 1702 | Synaptic, transcriptional and chromatin genes disrupted in autism |
| Fromer M, 2014 | - | - | 94 | De novo mutations in schizophrenia implicate synaptic networks. |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.