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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for MACC1 |
 Gene summary |
| Gene information | Gene symbol | MACC1 | Gene ID | 346389 |
| Gene name | MACC1, MET transcriptional regulator | |
| Synonyms | 7A5|SH3BP4L | |
| Cytomap | 7p21.1 | |
| Type of gene | protein-coding | |
| Description | metastasis-associated in colon cancer protein 1SH3 domain-containing protein 7a5metastasis associated in colon cancer 1putative binding protein 7a5 | |
| Modification date | 20180523 | |
| UniProtAcc | Q6ZN28 | |
| Context | PubMed: MACC1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| MACC1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 19098908 |
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Exon skipping events across known transcript of Ensembl for MACC1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for MACC1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for MACC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_474007 | 7 | 20193815:20194004:20197826:20199868:20201370:20201493 | 20197826:20199868 | ENSG00000183742.8 | ENST00000589011.1,ENST00000400331.5,ENST00000332878.4 |
| exon_skip_474013 | 7 | 20201370:20201493:20203878:20204022:20210336:20210401 | 20203878:20204022 | ENSG00000183742.8 | ENST00000400331.5 |
| exon_skip_474031 | 7 | 20203991:20204022:20210336:20210404:20238147:20238293 | 20210336:20210404 | ENSG00000183742.8 | ENST00000471019.1 |
| exon_skip_474050 | 7 | 20210336:20210404:20238147:20238293:20256921:20256975 | 20238147:20238293 | ENSG00000183742.8 | ENST00000471019.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MACC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_474007 | 7 | 20193815:20194004:20197826:20199868:20201370:20201493 | 20197826:20199868 | ENSG00000183742.8 | ENST00000400331.5,ENST00000332878.4,ENST00000589011.1 |
| exon_skip_474013 | 7 | 20201370:20201493:20203878:20204022:20210336:20210401 | 20203878:20204022 | ENSG00000183742.8 | ENST00000400331.5 |
| exon_skip_474050 | 7 | 20210336:20210404:20238147:20238293:20256921:20256975 | 20238147:20238293 | ENSG00000183742.8 | ENST00000471019.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for MACC1 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000400331 | 20203878 | 20204022 | 3UTR-3UTR |
| ENST00000332878 | 20197826 | 20199868 | Frame-shift |
| ENST00000400331 | 20197826 | 20199868 | Frame-shift |
| ENST00000589011 | 20197826 | 20199868 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000400331 | 20203878 | 20204022 | 3UTR-3UTR |
| ENST00000332878 | 20197826 | 20199868 | Frame-shift |
| ENST00000400331 | 20197826 | 20199868 | Frame-shift |
| ENST00000589011 | 20197826 | 20199868 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for MACC1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 GTEx 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 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 GTEx. |
| 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 |
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SNVs in the skipped exons for MACC1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_474007 | 20197827 | 20199868 | 20197984 | 20197984 | Frame_Shift_Del | A | - | p.L667fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_474007 | 20197827 | 20199868 | 20198146 | 20198146 | Frame_Shift_Del | T | - | p.N613fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_474007 | 20197827 | 20199868 | 20198528 | 20198528 | Frame_Shift_Del | A | - | p.C486fs |
| STAD | TCGA-D7-A4YX-01 | exon_skip_474007 | 20197827 | 20199868 | 20198552 | 20198553 | Frame_Shift_Del | TG | - | p.478_478del |
| STAD | TCGA-D7-A4YX-01 | exon_skip_474007 | 20197827 | 20199868 | 20198552 | 20198553 | Frame_Shift_Del | TG | - | p.R478fs |
| LGG | TCGA-TM-A84H-01 | exon_skip_474007 | 20197827 | 20199868 | 20198631 | 20198635 | Frame_Shift_Del | TTCTC | - | p.GE450fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_474007 | 20197827 | 20199868 | 20198752 | 20198752 | Frame_Shift_Del | T | - | p.N411fs |
| HNSC | TCGA-CV-A6K1-01 | exon_skip_474007 | 20197827 | 20199868 | 20198752 | 20198752 | Frame_Shift_Del | T | - | p.N411fs |
| SKCM | TCGA-FR-A726-01 | exon_skip_474007 | 20197827 | 20199868 | 20198832 | 20198832 | Frame_Shift_Del | A | - | p.F384fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_474007 | 20197827 | 20199868 | 20198977 | 20198977 | Frame_Shift_Del | T | - | p.K336fs |
| LUAD | TCGA-86-8673-01 | exon_skip_474007 | 20197827 | 20199868 | 20199089 | 20199089 | Frame_Shift_Del | C | - | p.D299fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_474007 | 20197827 | 20199868 | 20199466 | 20199466 | Frame_Shift_Del | T | - | p.N173fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_474007 | 20197827 | 20199868 | 20199658 | 20199658 | Frame_Shift_Del | T | - | p.N109fs |
| LUAD | TCGA-49-4506-01 | exon_skip_474007 | 20197827 | 20199868 | 20198725 | 20198726 | Frame_Shift_Ins | - | A | p.G420fs |
| LUAD | TCGA-49-4506-01 | exon_skip_474007 | 20197827 | 20199868 | 20198725 | 20198726 | Frame_Shift_Ins | - | A | p.W420fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_474007 | 20197827 | 20199868 | 20199445 | 20199446 | Frame_Shift_Ins | - | T | p.G180fs |
| LUSC | TCGA-33-4582-01 | exon_skip_474007 | 20197827 | 20199868 | 20197949 | 20197949 | Nonsense_Mutation | C | A | p.E679* |
| BLCA | TCGA-GV-A6ZA-01 | exon_skip_474007 | 20197827 | 20199868 | 20198032 | 20198032 | Nonsense_Mutation | G | C | p.S651* |
| BLCA | TCGA-4Z-AA7W-01 | exon_skip_474007 | 20197827 | 20199868 | 20198186 | 20198186 | Nonsense_Mutation | C | A | p.G600* |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_474007 | 20197827 | 20199868 | 20198624 | 20198624 | Nonsense_Mutation | C | A | p.E454* |
| READ | TCGA-F5-6814-01 | exon_skip_474007 | 20197827 | 20199868 | 20199662 | 20199662 | Nonsense_Mutation | C | A | p.E108X |
| SKCM | TCGA-EE-A29S-06 | exon_skip_474007 | 20197827 | 20199868 | 20199780 | 20199780 | Nonsense_Mutation | C | T | p.W68* |
| SKCM | TCGA-EE-A29S-06 | exon_skip_474007 | 20197827 | 20199868 | 20199780 | 20199780 | Nonsense_Mutation | C | T | p.W68X |
| SKCM | TCGA-ER-A19P-06 | exon_skip_474007 | 20197827 | 20199868 | 20199780 | 20199780 | Nonsense_Mutation | C | T | p.W68* |
| SKCM | TCGA-ER-A19P-06 | exon_skip_474007 | 20197827 | 20199868 | 20199780 | 20199780 | Nonsense_Mutation | C | T | p.W68X |
| THYM | TCGA-X7-A8M3-01 | exon_skip_474007 | 20197827 | 20199868 | 20199864 | 20199864 | Nonsense_Mutation | G | T | p.C40X |
| BLCA | TCGA-G2-A2EJ-01 | exon_skip_474007 | 20197827 | 20199868 | 20199869 | 20199869 | Splice_Site | C | T | p.E39_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| 8MGBA_CENTRAL_NERVOUS_SYSTEM | 20197827 | 20199868 | 20197831 | 20197838 | Frame_Shift_Del | ATAAGTTC | - | p.ELI716fs |
| PC3_PROSTATE | 20197827 | 20199868 | 20197922 | 20197925 | Frame_Shift_Del | TGTC | - | p.DK687fs |
| PC3JPC3_LUNG | 20197827 | 20199868 | 20197922 | 20197925 | Frame_Shift_Del | TGTC | - | p.DK687fs |
| MDAPCA2B_PROSTATE | 20197827 | 20199868 | 20198049 | 20198049 | Frame_Shift_Del | T | - | p.K645fs |
| EN_ENDOMETRIUM | 20197827 | 20199868 | 20198572 | 20198572 | Frame_Shift_Del | A | - | p.L471fs |
| JHUEM1_ENDOMETRIUM | 20197827 | 20199868 | 20198721 | 20198721 | Frame_Shift_Del | C | - | p.G421fs |
| PACADD137_PANCREAS | 20197827 | 20199868 | 20198752 | 20198752 | Frame_Shift_Del | T | - | p.N411fs |
| CCK81_LARGE_INTESTINE | 20197827 | 20199868 | 20199569 | 20199569 | Frame_Shift_Del | T | - | p.S139fs |
| CL34_LARGE_INTESTINE | 20197827 | 20199868 | 20198412 | 20198414 | In_Frame_Del | CTT | - | p.K524del |
| LNCAPCLONEFGC_PROSTATE | 20197827 | 20199868 | 20197887 | 20197887 | Missense_Mutation | C | A | p.K699N |
| LB831BLC_URINARY_TRACT | 20197827 | 20199868 | 20198107 | 20198107 | Missense_Mutation | G | A | p.S626L |
| NCIH2135_LUNG | 20197827 | 20199868 | 20198147 | 20198147 | Missense_Mutation | T | G | p.N613H |
| KYSE180_OESOPHAGUS | 20197827 | 20199868 | 20198221 | 20198221 | Missense_Mutation | G | C | p.A588G |
| CHL1_SKIN | 20197827 | 20199868 | 20198233 | 20198233 | Missense_Mutation | C | T | p.G584D |
| CCK81_LARGE_INTESTINE | 20197827 | 20199868 | 20198320 | 20198320 | Missense_Mutation | A | G | p.V555A |
| HEC1A_ENDOMETRIUM | 20197827 | 20199868 | 20198362 | 20198362 | Missense_Mutation | G | T | p.P541H |
| HEC1_ENDOMETRIUM | 20197827 | 20199868 | 20198362 | 20198362 | Missense_Mutation | G | T | p.P541H |
| RKO_LARGE_INTESTINE | 20197827 | 20199868 | 20198467 | 20198467 | Missense_Mutation | T | C | p.D506G |
| HEC108_ENDOMETRIUM | 20197827 | 20199868 | 20198477 | 20198477 | Missense_Mutation | T | C | p.T503A |
| KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20197827 | 20199868 | 20198522 | 20198522 | Missense_Mutation | G | T | p.Q488K |
| SNU719_STOMACH | 20197827 | 20199868 | 20198531 | 20198531 | Missense_Mutation | A | C | p.F485V |
| IGR1_SKIN | 20197827 | 20199868 | 20198587 | 20198587 | Missense_Mutation | A | G | p.V466A |
| RF48_STOMACH | 20197827 | 20199868 | 20198630 | 20198630 | Missense_Mutation | T | C | p.R452G |
| SU8686_PANCREAS | 20197827 | 20199868 | 20198639 | 20198639 | Missense_Mutation | C | T | p.E449K |
| SNU449_LIVER | 20197827 | 20199868 | 20198648 | 20198648 | Missense_Mutation | C | T | p.V446I |
| CP66MEL_SKIN | 20197827 | 20199868 | 20198696 | 20198696 | Missense_Mutation | G | A | p.P430S |
| HCC2998_LARGE_INTESTINE | 20197827 | 20199868 | 20198756 | 20198756 | Missense_Mutation | T | G | p.K410Q |
| KMRC1_KIDNEY | 20197827 | 20199868 | 20198786 | 20198786 | Missense_Mutation | G | A | p.L400F |
| EMCBAC1_LUNG | 20197827 | 20199868 | 20198787 | 20198787 | Missense_Mutation | C | A | p.Q399H |
| SNU1040_LARGE_INTESTINE | 20197827 | 20199868 | 20198852 | 20198852 | Missense_Mutation | T | C | p.K378E |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20197827 | 20199868 | 20198936 | 20198936 | Missense_Mutation | C | T | p.A350T |
| CL34_LARGE_INTESTINE | 20197827 | 20199868 | 20199024 | 20199024 | Missense_Mutation | A | T | p.F320L |
| NCIH2882_LUNG | 20197827 | 20199868 | 20199033 | 20199033 | Missense_Mutation | T | G | p.E317D |
| NCIH2595_PLEURA | 20197827 | 20199868 | 20199148 | 20199148 | Missense_Mutation | T | C | p.N279S |
| SNU175_LARGE_INTESTINE | 20197827 | 20199868 | 20199152 | 20199152 | Missense_Mutation | C | T | p.G278S |
| PCI6A_UPPER_AERODIGESTIVE_TRACT | 20197827 | 20199868 | 20199179 | 20199179 | Missense_Mutation | C | G | p.V269L |
| AM38_CENTRAL_NERVOUS_SYSTEM | 20197827 | 20199868 | 20199202 | 20199202 | Missense_Mutation | A | C | p.L261R |
| CL14_LARGE_INTESTINE | 20197827 | 20199868 | 20199203 | 20199203 | Missense_Mutation | G | C | p.L261V |
| PACADD137_PANCREAS | 20197827 | 20199868 | 20199257 | 20199257 | Missense_Mutation | C | T | p.V243M |
| HEC108_ENDOMETRIUM | 20197827 | 20199868 | 20199320 | 20199320 | Missense_Mutation | C | T | p.G222R |
| SW1271_LUNG | 20197827 | 20199868 | 20199377 | 20199377 | Missense_Mutation | C | T | p.G203R |
| SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20197827 | 20199868 | 20199416 | 20199416 | Missense_Mutation | G | A | p.R190C |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20197827 | 20199868 | 20199427 | 20199427 | Missense_Mutation | C | T | p.R186H |
| SW684_SOFT_TISSUE | 20197827 | 20199868 | 20199437 | 20199437 | Missense_Mutation | A | C | p.L183V |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20197827 | 20199868 | 20199443 | 20199443 | Missense_Mutation | C | T | p.A181T |
| SNU81_LARGE_INTESTINE | 20197827 | 20199868 | 20199447 | 20199447 | Missense_Mutation | T | G | p.K179N |
| T3M10_LUNG | 20197827 | 20199868 | 20199523 | 20199523 | Missense_Mutation | T | A | p.H154L |
| MM370_SKIN | 20197827 | 20199868 | 20199580 | 20199580 | Missense_Mutation | C | T | p.G135E |
| NCIH841_LUNG | 20197827 | 20199868 | 20199646 | 20199646 | Missense_Mutation | A | G | p.F113S |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20197827 | 20199868 | 20199656 | 20199656 | Missense_Mutation | C | T | p.G110R |
| HCC2450_LUNG | 20197827 | 20199868 | 20199675 | 20199675 | Missense_Mutation | G | C | p.F103L |
| MDAMB157_BREAST | 20197827 | 20199868 | 20199749 | 20199749 | Missense_Mutation | C | G | p.D79H |
| GIMEN_AUTONOMIC_GANGLIA | 20197827 | 20199868 | 20197883 | 20197883 | Nonsense_Mutation | T | A | p.K701* |
| UMUC14_URINARY_TRACT | 20197827 | 20199868 | 20198872 | 20198872 | Nonsense_Mutation | G | T | p.S371* |
| PEO1_OVARY | 20197827 | 20199868 | 20198872 | 20198872 | Nonsense_Mutation | G | T | p.S371* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MACC1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MACC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MACC1 |
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RelatedDrugs for MACC1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MACC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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