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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for MARK4 |
Gene summary |
Gene information | Gene symbol | MARK4 | Gene ID | 57787 |
Gene name | microtubule affinity regulating kinase 4 | |
Synonyms | MARK4L|MARK4S|MARKL1|MARKL1L|PAR-1D | |
Cytomap | 19q13.32 | |
Type of gene | protein-coding | |
Description | MAP/microtubule affinity-regulating kinase 4MAP/microtubule affinity-regulating kinase like 1MARK4 serine/threonine protein kinaseepididymis secretory sperm binding protein | |
Modification date | 20200313 | |
UniProtAcc | ||
Context | - 24533944(MARK4 and MARK3 Associate With Early Tau Phosphorylation in Alzheimer's Disease Granulovacuolar Degeneration Bodies) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
MARK4 | GO:0007399 | nervous system development | 14594945 |
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Gene structures and expression levels for MARK4 |
Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | DOWN | ENST00000620044.4 | MARK4-210:protein_coding:MARK4 | 1.347251e+02 | -1.459178e+00 | 8.154725e-07 | 1.260669e-05 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MARK4 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_125129 | chr19 | 45297889:45297954:45298143:45298222:45299811:45299855 | 45298143:45298222 |
exon_skip_147676 | chr19 | 45271472:45271708:45277923:45278042:45278516:45278615 | 45277923:45278042 |
exon_skip_15981 | chr19 | 45277981:45278042:45278516:45278615:45280374:45280483 | 45278516:45278615 |
exon_skip_20110 | chr19 | 45297888:45297954:45298143:45298222:45299811:45299855 | 45298143:45298222 |
exon_skip_223362 | chr19 | 45263113:45263166:45263319:45263367:45264684:45264749 | 45263319:45263367 |
exon_skip_224187 | chr19 | 45294349:45294452:45297676:45297954:45299811:45299855 | 45297676:45297954 |
exon_skip_232650 | chr19 | 45297885:45297954:45298143:45298222:45299811:45299855 | 45298143:45298222 |
exon_skip_233445 | chr19 | 45251387:45251639:45258989:45259189:45263113:45263166 | 45258989:45259189 |
exon_skip_251849 | chr19 | 45263319:45263367:45264684:45264749:45264840:45264910 | 45264684:45264749 |
exon_skip_266303 | chr19 | 45251557:45251639:45258989:45259189:45263113:45263166 | 45258989:45259189 |
exon_skip_273373 | chr19 | 45264840:45264910:45266225:45266281:45271472:45271677 | 45266225:45266281 |
exon_skip_28124 | chr19 | 45278516:45278615:45280374:45280483:45280575:45280656 | 45280374:45280483 |
exon_skip_4825 | chr19 | 45294349:45294452:45297676:45297954:45298143:45298222 | 45297676:45297954 |
exon_skip_51142 | chr19 | 45297897:45297954:45298143:45298222:45299811:45299855 | 45298143:45298222 |
exon_skip_51985 | chr19 | 45271472:45271708:45280374:45280483:45280575:45280656 | 45280374:45280483 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for MARK4 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000262891 | 45263319 | 45263367 | Frame-shift |
ENST00000262891 | 45278516 | 45278615 | Frame-shift |
ENST00000262891 | 45280374 | 45280483 | Frame-shift |
ENST00000262891 | 45258989 | 45259189 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000262891 | 45280374 | 45280483 | Frame-shift |
ENST00000262891 | 45258989 | 45259189 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000262891 | 45263319 | 45263367 | Frame-shift |
ENST00000262891 | 45278516 | 45278615 | Frame-shift |
ENST00000262891 | 45280374 | 45280483 | Frame-shift |
ENST00000262891 | 45258989 | 45259189 | In-frame |
ENST00000262891 | 45264684 | 45264749 | In-frame |
ENST00000262891 | 45266225 | 45266281 | In-frame |
ENST00000262891 | 45277923 | 45278042 | In-frame |
ENST00000262891 | 45297676 | 45297954 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MARK4 |
p-ENSG00000007047_img4.png |
Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000262891 | 3590 | 752 | 45258989 | 45259189 | 384 | 583 | 17 | 84 |
Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000262891 | 3590 | 752 | 45258989 | 45259189 | 384 | 583 | 17 | 84 |
Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000262891 | 3590 | 752 | 45258989 | 45259189 | 384 | 583 | 17 | 84 |
ENST00000262891 | 3590 | 752 | 45264684 | 45264749 | 688 | 752 | 119 | 140 |
ENST00000262891 | 3590 | 752 | 45266225 | 45266281 | 825 | 880 | 164 | 183 |
ENST00000262891 | 3590 | 752 | 45277923 | 45278042 | 1119 | 1237 | 262 | 302 |
ENST00000262891 | 3590 | 752 | 45297676 | 45297954 | 1931 | 2208 | 533 | 625 |
Lost protein functional features of individual exon skipping events in ROSMAP. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q96L34 | 17 | 84 | 59 | 67 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 17 | 84 | 69 | 78 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 17 | 84 | 84 | 91 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 17 | 84 | 1 | 752 | Chain | ID=PRO_0000086307;Note=MAP/microtubule affinity-regulating kinase 4 |
Q96L34 | 17 | 84 | 59 | 310 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q96L34 | 17 | 84 | 65 | 73 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q96L34 | 17 | 84 | 70 | 70 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q96L34 | 17 | 84 | 70 | 70 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q96L34 | 17 | 84 | 79 | 81 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Lost protein functional features of individual exon skipping events in MSBB. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q96L34 | 17 | 84 | 59 | 67 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 17 | 84 | 69 | 78 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 17 | 84 | 84 | 91 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 17 | 84 | 1 | 752 | Chain | ID=PRO_0000086307;Note=MAP/microtubule affinity-regulating kinase 4 |
Q96L34 | 17 | 84 | 59 | 310 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q96L34 | 17 | 84 | 65 | 73 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q96L34 | 17 | 84 | 70 | 70 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q96L34 | 17 | 84 | 70 | 70 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q96L34 | 17 | 84 | 79 | 81 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Lost protein functional features of individual exon skipping events in Mayo. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q96L34 | 17 | 84 | 59 | 67 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 17 | 84 | 69 | 78 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 17 | 84 | 84 | 91 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 17 | 84 | 1 | 752 | Chain | ID=PRO_0000086307;Note=MAP/microtubule affinity-regulating kinase 4 |
Q96L34 | 17 | 84 | 59 | 310 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q96L34 | 17 | 84 | 65 | 73 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q96L34 | 17 | 84 | 70 | 70 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q96L34 | 17 | 84 | 70 | 70 | Sequence conflict | Note=F->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q96L34 | 17 | 84 | 79 | 81 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 119 | 140 | 121 | 126 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 119 | 140 | 128 | 135 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 119 | 140 | 1 | 752 | Chain | ID=PRO_0000086307;Note=MAP/microtubule affinity-regulating kinase 4 |
Q96L34 | 119 | 140 | 59 | 310 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q96L34 | 164 | 183 | 181 | 181 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10027 |
Q96L34 | 164 | 183 | 1 | 752 | Chain | ID=PRO_0000086307;Note=MAP/microtubule affinity-regulating kinase 4 |
Q96L34 | 164 | 183 | 59 | 310 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q96L34 | 164 | 183 | 155 | 174 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 262 | 302 | 1 | 752 | Chain | ID=PRO_0000086307;Note=MAP/microtubule affinity-regulating kinase 4 |
Q96L34 | 262 | 302 | 59 | 310 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q96L34 | 262 | 302 | 261 | 270 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 262 | 302 | 281 | 290 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 262 | 302 | 301 | 304 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 262 | 302 | 295 | 297 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5ES1 |
Q96L34 | 533 | 625 | 1 | 752 | Chain | ID=PRO_0000086307;Note=MAP/microtubule affinity-regulating kinase 4 |
Q96L34 | 533 | 625 | 543 | 543 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MARK4 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for MARK4 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for MARK4 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MARK4 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for MARK4 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | PCBP4 | exon_skip_232650 | 4.406354e-01 | 6.152947e-09 |
CB | RALYL | exon_skip_232650 | 4.002047e-01 | 1.725768e-07 |
DLPFC | ELAVL1 | exon_skip_125129 | 4.288434e-01 | 3.021562e-12 |
DLPFC | PCBP1 | exon_skip_125129 | 6.698032e-01 | 7.175252e-33 |
DLPFC | HNRNPK | exon_skip_125129 | 6.310999e-01 | 2.724786e-28 |
DLPFC | PCBP4 | exon_skip_125129 | 4.066196e-01 | 4.728713e-11 |
DLPFC | KHDRBS2 | exon_skip_125129 | 8.328789e-01 | 1.348377e-63 |
DLPFC | RBM24 | exon_skip_125129 | 7.140045e-01 | 5.017747e-39 |
DLPFC | PPRC1 | exon_skip_125129 | 7.083834e-01 | 3.524152e-38 |
DLPFC | RALYL | exon_skip_125129 | 8.069807e-01 | 8.129550e-57 |
DLPFC | EWSR1 | exon_skip_125129 | 6.479249e-01 | 3.358481e-30 |
HCC | KHDRBS2 | exon_skip_20110 | 5.147726e-01 | 9.706979e-20 |
HCC | FUBP1 | exon_skip_20110 | -4.228001e-01 | 3.545549e-13 |
IFG | KHDRBS2 | exon_skip_232650 | 6.170543e-01 | 6.072095e-04 |
IFG | RBM24 | exon_skip_232650 | 5.409539e-01 | 3.573549e-03 |
IFG | RALYL | exon_skip_232650 | 4.984723e-01 | 8.136050e-03 |
PCC | RALYL | exon_skip_51142 | 4.439666e-01 | 1.483940e-11 |
TC | KHDRBS2 | exon_skip_232650 | 8.336262e-01 | 1.402944e-42 |
TC | RBM24 | exon_skip_232650 | 8.108355e-01 | 1.362593e-38 |
TC | RALYL | exon_skip_232650 | 8.930165e-01 | 1.152415e-56 |
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RelatedDrugs for MARK4 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Q96L34 | approved|investigational | DB12010 | Fostamatinib | small molecule | Q96L34 |
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RelatedDiseases for MARK4 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |