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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for MAX |
 Gene summary |
| Gene information | Gene symbol | MAX | Gene ID | 4149 |
| Gene name | MYC associated factor X | |
| Synonyms | bHLHd4 | |
| Cytomap | 14q23.3 | |
| Type of gene | protein-coding | |
| Description | protein maxclass D basic helix-loop-helix protein 4 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| MAX | GO:0000122 | negative regulation of transcription by RNA polymerase II | 8521822 |
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Gene structures and expression levels for MAX |
| 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. |
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ENSG00000125952
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000557746.5 | MAX-218:protein_coding:MAX | 1.734972e+01 | 9.353765e-01 | 3.169635e-04 | 1.962434e-03 |
| CB | UP | ENST00000553951.1 | MAX-208:retained_intron:MAX | 4.474029e+00 | 1.201378e+00 | 8.928866e-04 | 4.694383e-03 |
| CB | DOWN | ENST00000555932.5 | MAX-212:protein_coding:MAX | 3.874996e+02 | -2.258553e+00 | 1.323655e-02 | 4.361420e-02 |
| TC | DOWN | ENST00000555932.5 | MAX-212:protein_coding:MAX | 8.380806e+01 | -3.243674e+00 | 3.827472e-03 | 2.739291e-02 |
| 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 MAX |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_117704 | chr14 | 65076609:65076663:65077344:65077428:65077913:65077993 | 65077344:65077428 |
| exon_skip_137099 | chr14 | 65076609:65076663:65077344:65077428:65077913:65078036 | 65077344:65077428 |
| exon_skip_16402 | chr14 | 65077913:65078036:65093708:65093815:65101546:65101572 | 65093708:65093815 |
| exon_skip_182409 | chr14 | 65076609:65076663:65077913:65078036:65093708:65093815 | 65077913:65078036 |
| exon_skip_184993 | chr14 | 65076636:65076663:65077344:65077428:65077913:65078036 | 65077344:65077428 |
| exon_skip_200350 | chr14 | 65077385:65077428:65077563:65077643:65077913:65077993 | 65077563:65077643 |
| exon_skip_205595 | chr14 | 65093708:65093815:65101546:65101572:65102509:65102690 | 65101546:65101572 |
| exon_skip_220627 | chr14 | 65076609:65076663:65077328:65077428:65077913:65078036 | 65077328:65077428 |
| exon_skip_227409 | chr14 | 65076636:65076663:65077328:65077428:65077913:65078036 | 65077328:65077428 |
| exon_skip_231941 | chr14 | 65077385:65077428:65077563:65077643:65077913:65078036 | 65077563:65077643 |
| exon_skip_289206 | chr14 | 65093708:65093815:65101546:65101572:65102304:65102339 | 65101546:65101572 |
| exon_skip_43923 | chr14 | 65076609:65076663:65077328:65077428:65077913:65077993 | 65077328:65077428 |
| exon_skip_80231 | chr14 | 65093788:65093815:65101546:65101572:65102304:65102339 | 65101546:65101572 |
| 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 MAX |
| 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 |
| ENST00000358664 | 65077913 | 65078036 | Frame-shift |
| ENST00000358664 | 65093708 | 65093815 | In-frame |
| ENST00000358664 | 65101546 | 65101572 | 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 |
| ENST00000358664 | 65101546 | 65101572 | 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 |
| ENST00000358664 | 65077913 | 65078036 | Frame-shift |
| ENST00000358664 | 65093708 | 65093815 | In-frame |
| ENST00000358664 | 65101546 | 65101572 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAX |
p-ENSG00000125952_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 |
| ENST00000358664 | 1563 | 160 | 65093708 | 65093815 | 195 | 301 | 21 | 56 |
| 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 |
| 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 |
| ENST00000358664 | 1563 | 160 | 65093708 | 65093815 | 195 | 301 | 21 | 56 |
| 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 |
| P61244 | 21 | 56 | 13 | 21 | Alternative sequence | ID=VSP_002117;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:2006410;Dbxref=PMID:14702039,PMID:15489334,PMID:2006410 |
| P61244 | 21 | 56 | 2 | 160 | Chain | ID=PRO_0000127269;Note=Protein max |
| P61244 | 21 | 56 | 23 | 74 | Domain | Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 |
| P61244 | 21 | 56 | 24 | 47 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NKP |
| P61244 | 21 | 56 | 51 | 53 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NKP |
| P61244 | 21 | 56 | 23 | 23 | Natural variant | ID=VAR_079348;Note=In PCC%3B unknown pathological significance%3B does not affect MYC transcriptional activity. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21685915,ECO:0000269|PubMed:26070438;Dbxref=PMID:21685915,PMID:26070438 |
| P61244 | 21 | 56 | 25 | 25 | Natural variant | ID=VAR_079349;Note=In PCC%3B does not repress MYC transcriptional activity. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22452945,ECO:0000269|PubMed:26070438;Dbxref=PMID:22452945,PMID:26070438 |
| P61244 | 21 | 56 | 33 | 160 | Natural variant | ID=VAR_079350;Note=In PCC%3B does not repress MYC transcriptional activity. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21685915,ECO:0000269|PubMed:22452945,ECO:0000269|PubMed:26070438;Dbxref=PMID:21685915,PMID:22 |
| P61244 | 21 | 56 | 35 | 35 | Natural variant | ID=VAR_079351;Note=In PCC%3B does not repress MYC transcriptional activity. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22452945,ECO:0000269|PubMed:26070438;Dbxref=PMID:22452945,PMID:26070438 |
| P61244 | 21 | 56 | 47 | 52 | Natural variant | ID=VAR_079352;Note=In PCC%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22452945;Dbxref=PMID:22452945 |
| 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 |
| 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 |
| P61244 | 21 | 56 | 13 | 21 | Alternative sequence | ID=VSP_002117;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:2006410;Dbxref=PMID:14702039,PMID:15489334,PMID:2006410 |
| P61244 | 21 | 56 | 2 | 160 | Chain | ID=PRO_0000127269;Note=Protein max |
| P61244 | 21 | 56 | 23 | 74 | Domain | Note=bHLH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00981 |
| P61244 | 21 | 56 | 24 | 47 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NKP |
| P61244 | 21 | 56 | 51 | 53 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NKP |
| P61244 | 21 | 56 | 23 | 23 | Natural variant | ID=VAR_079348;Note=In PCC%3B unknown pathological significance%3B does not affect MYC transcriptional activity. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21685915,ECO:0000269|PubMed:26070438;Dbxref=PMID:21685915,PMID:26070438 |
| P61244 | 21 | 56 | 25 | 25 | Natural variant | ID=VAR_079349;Note=In PCC%3B does not repress MYC transcriptional activity. R->W;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22452945,ECO:0000269|PubMed:26070438;Dbxref=PMID:22452945,PMID:26070438 |
| P61244 | 21 | 56 | 33 | 160 | Natural variant | ID=VAR_079350;Note=In PCC%3B does not repress MYC transcriptional activity. Missing;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:21685915,ECO:0000269|PubMed:22452945,ECO:0000269|PubMed:26070438;Dbxref=PMID:21685915,PMID:22 |
| P61244 | 21 | 56 | 35 | 35 | Natural variant | ID=VAR_079351;Note=In PCC%3B does not repress MYC transcriptional activity. R->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22452945,ECO:0000269|PubMed:26070438;Dbxref=PMID:22452945,PMID:26070438 |
| P61244 | 21 | 56 | 47 | 52 | Natural variant | ID=VAR_079352;Note=In PCC%3B unknown pathological significance%3B somatic mutation. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22452945;Dbxref=PMID:22452945 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MAX |
| 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 MAX |
| - 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 MAX |
| 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 MAX |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_231941 | rs1957948 | chr14:65075911 | 4.740455e-15 | 1.172200e-11 |
| CB | exon_skip_231941 | rs868814 | chr14:65117790 | 7.789586e-12 | 9.995691e-09 |
| CB | exon_skip_231941 | rs11627382 | chr14:65013490 | 1.632178e-11 | 1.919895e-08 |
| CB | exon_skip_231941 | rs2296316 | chr14:65053528 | 1.560325e-08 | 9.306129e-06 |
| CB | exon_skip_231941 | rs4902368 | chr14:65145330 | 2.259279e-08 | 1.303870e-05 |
| TC | exon_skip_200350 | rs1957948 | chr14:65075911 | 6.466149e-16 | 1.791608e-12 |
| TC | exon_skip_200350 | rs868814 | chr14:65117790 | 1.391080e-13 | 2.668386e-10 |
| TC | exon_skip_200350 | rs4902368 | chr14:65145330 | 2.507277e-11 | 2.748279e-08 |
| TC | exon_skip_200350 | rs2296316 | chr14:65053528 | 8.836356e-11 | 8.903030e-08 |
| TC | exon_skip_200350 | rs11627382 | chr14:65013490 | 2.372340e-09 | 1.615248e-06 |
| PCC | exon_skip_231941 | rs7143495 | chr14:65079643 | 5.019981e-13 | 8.450069e-10 |
| PCC | exon_skip_231941 | rs1953228 | chr14:65095500 | 8.777275e-13 | 1.407001e-09 |
| PCC | exon_skip_231941 | rs1957948 | chr14:65075911 | 1.744893e-12 | 2.579118e-09 |
| PCC | exon_skip_231941 | rs942628 | chr14:65072745 | 3.408222e-12 | 4.749810e-09 |
| PCC | exon_skip_231941 | rs1953232 | chr14:65103668 | 4.215758e-12 | 5.827645e-09 |
| PCC | exon_skip_231941 | rs868814 | chr14:65117790 | 7.323933e-12 | 9.655149e-09 |
| PCC | exon_skip_231941 | rs10873180 | chr14:65137643 | 1.025562e-11 | 1.296918e-08 |
| PCC | exon_skip_231941 | rs17825846 | chr14:65132034 | 1.359280e-11 | 1.617116e-08 |
| PCC | exon_skip_231941 | rs11627382 | chr14:65013490 | 7.577158e-10 | 5.840056e-07 |
| PCC | exon_skip_231941 | rs11626496 | chr14:65134263 | 1.037606e-09 | 7.505934e-07 |
| PCC | exon_skip_231941 | rs4902368 | chr14:65145330 | 1.687250e-09 | 1.166183e-06 |
| PCC | exon_skip_231941 | rs4899160 | chr14:65014494 | 1.884747e-09 | 1.289635e-06 |
| PCC | exon_skip_231941 | rs2296316 | chr14:65053528 | 1.772620e-07 | 7.719941e-05 |
| PCC | exon_skip_231941 | rs4899159 | chr14:65013877 | 1.098287e-05 | 2.759375e-03 |
| PCC | exon_skip_231941 | rs11620955 | chr14:65024537 | 1.831821e-05 | 4.292773e-03 |
| PCC | exon_skip_231941 | rs8006419 | chr14:65034017 | 1.835850e-05 | 4.296316e-03 |
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Correlation with RNA binding proteins (RBPs) for MAX |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_289206 | 4.349860e-01 | 1.006936e-08 |
| IFG | ILF2 | exon_skip_137099 | 4.300369e-01 | 2.236621e-02 |
| IFG | TRA2A | exon_skip_289206 | 5.420875e-01 | 2.884364e-03 |
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RelatedDrugs for MAX |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MAX |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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