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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 MLXIPL |
 Gene summary |
| Gene information | Gene symbol | MLXIPL | Gene ID | 51085 |
| Gene name | MLX interacting protein like | |
| Synonyms | CHREBP|MIO|MLX|MONDOB|WBSCR14|WS-bHLH|bHLHd14 | |
| Cytomap | 7q11.23 | |
| Type of gene | protein-coding | |
| Description | carbohydrate-responsive element-binding proteinMlx interactorWS basic-helix-loop-helix leucine zipper proteinWilliams Beuren syndrome chromosome region 14Williams-Beuren syndrome chromosome region 14 protein 1Williams-Beuren syndrome chromosome regio | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NP71 | |
| Context | PubMed: MLXIPL [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 |
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Exon skipping events across known transcript of Ensembl for MLXIPL 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 MLXIPL |
| 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 MLXIPL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_476229 | 7 | 73009995:73010090:73010171:73010242:73010482:73010596 | 73010171:73010242 | ENSG00000009950.11 | ENST00000429400.2,ENST00000354613.1 |
| exon_skip_476231 | 7 | 73009995:73010090:73010171:73010299:73010482:73010596 | 73010171:73010299 | ENSG00000009950.11 | ENST00000414749.2,ENST00000434326.1,ENST00000395189.1,ENST00000345114.5,ENST00000313375.3 |
| exon_skip_476236 | 7 | 73010693:73010809:73010968:73011116:73011194:73011262 | 73010968:73011116 | ENSG00000009950.11 | ENST00000434326.1 |
| exon_skip_476237 | 7 | 73010693:73010809:73010968:73011119:73011194:73011262 | 73010968:73011119 | ENSG00000009950.11 | ENST00000429400.2,ENST00000414749.2,ENST00000395189.1,ENST00000354613.1,ENST00000313375.3 |
| exon_skip_476238 | 7 | 73011194:73011262:73011511:73012043:73013855:73013996 | 73011511:73012043 | ENSG00000009950.11 | ENST00000429400.2,ENST00000414749.2,ENST00000434326.1,ENST00000395189.1,ENST00000476404.1,ENST00000345114.5,ENST00000354613.1,ENST00000313375.3 |
| exon_skip_476241 | 7 | 73011974:73012043:73013855:73014025:73020017:73020098 | 73013855:73014025 | ENSG00000009950.11 | ENST00000429400.2,ENST00000414749.2,ENST00000434326.1,ENST00000395189.1,ENST00000476404.1,ENST00000345114.5,ENST00000354613.1,ENST00000313375.3 |
| exon_skip_476253 | 7 | 73020017:73020098:73020239:73020441:73021303:73021348 | 73020239:73020441 | ENSG00000009950.11 | ENST00000488212.1,ENST00000429400.2,ENST00000414749.2,ENST00000345114.5,ENST00000354613.1,ENST00000313375.3 |
| exon_skip_476261 | 7 | 73020239:73020441:73021303:73021348:73021465:73021750 | 73021303:73021348 | ENSG00000009950.11 | ENST00000456640.1 |
| exon_skip_476262 | 7 | 73020239:73020441:73021303:73021348:73021660:73021750 | 73021303:73021348 | ENSG00000009950.11 | ENST00000429400.2,ENST00000414749.2,ENST00000345114.5,ENST00000354613.1,ENST00000313375.3 |
| exon_skip_476267 | 7 | 73021303:73021348:73021465:73021750:73021919:73022002 | 73021465:73021750 | ENSG00000009950.11 | ENST00000456640.1 |
| exon_skip_476268 | 7 | 73021303:73021348:73021660:73021750:73021919:73022002 | 73021660:73021750 | ENSG00000009950.11 | ENST00000429400.2,ENST00000414749.2,ENST00000345114.5,ENST00000354613.1,ENST00000313375.3 |
| exon_skip_476269 | 7 | 73021708:73021750:73021919:73022002:73030400:73030491 | 73021919:73022002 | ENSG00000009950.11 | ENST00000429400.2,ENST00000414749.2,ENST00000434326.1,ENST00000395189.1,ENST00000345114.5,ENST00000354613.1,ENST00000313375.3,ENST00000456640.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MLXIPL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_476229 | 7 | 73009995:73010090:73010171:73010242:73010482:73010596 | 73010171:73010242 | ENSG00000009950.11 | ENST00000429400.2,ENST00000354613.1 |
| exon_skip_476231 | 7 | 73009995:73010090:73010171:73010299:73010482:73010596 | 73010171:73010299 | ENSG00000009950.11 | ENST00000414749.2,ENST00000345114.5,ENST00000313375.3,ENST00000395189.1,ENST00000434326.1 |
| exon_skip_476236 | 7 | 73010693:73010809:73010968:73011116:73011194:73011262 | 73010968:73011116 | ENSG00000009950.11 | ENST00000434326.1 |
| exon_skip_476237 | 7 | 73010693:73010809:73010968:73011119:73011194:73011262 | 73010968:73011119 | ENSG00000009950.11 | ENST00000414749.2,ENST00000429400.2,ENST00000313375.3,ENST00000354613.1,ENST00000395189.1 |
| exon_skip_476238 | 7 | 73011194:73011262:73011511:73012043:73013855:73013996 | 73011511:73012043 | ENSG00000009950.11 | ENST00000414749.2,ENST00000429400.2,ENST00000345114.5,ENST00000313375.3,ENST00000354613.1,ENST00000395189.1,ENST00000434326.1,ENST00000476404.1 |
| exon_skip_476241 | 7 | 73011974:73012043:73013855:73014025:73020017:73020098 | 73013855:73014025 | ENSG00000009950.11 | ENST00000414749.2,ENST00000429400.2,ENST00000345114.5,ENST00000313375.3,ENST00000354613.1,ENST00000395189.1,ENST00000434326.1,ENST00000476404.1 |
| exon_skip_476253 | 7 | 73020017:73020098:73020239:73020441:73021303:73021348 | 73020239:73020441 | ENSG00000009950.11 | ENST00000414749.2,ENST00000429400.2,ENST00000345114.5,ENST00000313375.3,ENST00000354613.1,ENST00000488212.1 |
| exon_skip_476261 | 7 | 73020239:73020441:73021303:73021348:73021465:73021750 | 73021303:73021348 | ENSG00000009950.11 | ENST00000456640.1 |
| exon_skip_476262 | 7 | 73020239:73020441:73021303:73021348:73021660:73021750 | 73021303:73021348 | ENSG00000009950.11 | ENST00000414749.2,ENST00000429400.2,ENST00000345114.5,ENST00000313375.3,ENST00000354613.1 |
| exon_skip_476267 | 7 | 73021303:73021348:73021465:73021750:73021919:73022002 | 73021465:73021750 | ENSG00000009950.11 | ENST00000456640.1 |
| exon_skip_476268 | 7 | 73021303:73021348:73021660:73021750:73021919:73022002 | 73021660:73021750 | ENSG00000009950.11 | ENST00000414749.2,ENST00000429400.2,ENST00000345114.5,ENST00000313375.3,ENST00000354613.1 |
| exon_skip_476269 | 7 | 73021708:73021750:73021919:73022002:73030400:73030491 | 73021919:73022002 | ENSG00000009950.11 | ENST00000414749.2,ENST00000429400.2,ENST00000345114.5,ENST00000313375.3,ENST00000354613.1,ENST00000395189.1,ENST00000434326.1,ENST00000456640.1 |
| 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 MLXIPL |
| 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 |
| ENST00000313375 | 73010171 | 73010299 | Frame-shift |
| ENST00000313375 | 73010968 | 73011119 | Frame-shift |
| ENST00000313375 | 73011511 | 73012043 | Frame-shift |
| ENST00000313375 | 73013855 | 73014025 | Frame-shift |
| ENST00000313375 | 73020239 | 73020441 | Frame-shift |
| ENST00000313375 | 73021919 | 73022002 | Frame-shift |
| ENST00000313375 | 73021303 | 73021348 | In-frame |
| ENST00000313375 | 73021660 | 73021750 | In-frame |
| 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 |
| ENST00000313375 | 73010171 | 73010299 | Frame-shift |
| ENST00000313375 | 73010968 | 73011119 | Frame-shift |
| ENST00000313375 | 73011511 | 73012043 | Frame-shift |
| ENST00000313375 | 73013855 | 73014025 | Frame-shift |
| ENST00000313375 | 73020239 | 73020441 | Frame-shift |
| ENST00000313375 | 73021919 | 73022002 | Frame-shift |
| ENST00000313375 | 73021303 | 73021348 | In-frame |
| ENST00000313375 | 73021660 | 73021750 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MLXIPL |
| 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 |
| ENST00000313375 | 3295 | 852 | 73021660 | 73021750 | 532 | 621 | 161 | 191 |
| ENST00000313375 | 3295 | 852 | 73021303 | 73021348 | 622 | 666 | 191 | 206 |
| 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 |
| ENST00000313375 | 3295 | 852 | 73021660 | 73021750 | 532 | 621 | 161 | 191 |
| ENST00000313375 | 3295 | 852 | 73021303 | 73021348 | 622 | 666 | 191 | 206 |
| 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 MLXIPL |
| - 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. |
MLXIPL_ESCA_exon_skip_476238_psi_boxplot.png |
MLXIPL_KIRC_exon_skip_476238_psi_boxplot.png |
MLXIPL_LIHC_exon_skip_476238_psi_boxplot.png |
MLXIPL_STAD_exon_skip_476238_psi_boxplot.png |
| - 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 |
| STAD | TCGA-BR-A453-01 | exon_skip_476238 | 73011512 | 73012043 | 73011627 | 73011627 | Frame_Shift_Del | G | - | p.P496fs |
| KIRC | TCGA-BP-5168-01 | exon_skip_476238 | 73011512 | 73012043 | 73011708 | 73011708 | Frame_Shift_Del | G | - | p.P469fs |
| LUAD | TCGA-53-A4EZ-01 | exon_skip_476238 | 73011512 | 73012043 | 73011880 | 73011880 | Frame_Shift_Del | G | - | p.P414fs |
| STAD | TCGA-BR-8382-01 | exon_skip_476238 | 73011512 | 73012043 | 73011913 | 73011913 | Frame_Shift_Del | G | - | p.P401fs |
| BLCA | TCGA-ZF-AA4R-01 | exon_skip_476238 | 73011512 | 73012043 | 73012016 | 73012016 | Frame_Shift_Del | C | - | p.D367fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_476238 | 73011512 | 73012043 | 73012020 | 73012020 | Frame_Shift_Del | G | - | p.P365fs |
| THCA | TCGA-FK-A4UB-01 | exon_skip_476253 | 73020240 | 73020441 | 73020366 | 73020366 | Frame_Shift_Del | C | - | p.D232fs |
| ESCA | TCGA-S8-A6BW-01 | exon_skip_476238 | 73011512 | 73012043 | 73011560 | 73011561 | Frame_Shift_Ins | - | G | p.H519fs |
| LUSC | TCGA-22-5492-01 | exon_skip_476262 exon_skip_476261 | 73021304 | 73021348 | 73021342 | 73021342 | Nonsense_Mutation | T | A | p.K194* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BP-5168-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_476238 | |
| Skipped exon start: 73011512 | |
| Skipped exon end: 73012043 | |
| Mutation start: 73011708 | |
| Mutation end: 73011708 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P469fs | |
exon_skip_476238_KIRC_TCGA-BP-5168-01.png | |
 | Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_476238 | |
| Skipped exon start: 73011512 | |
| Skipped exon end: 73012043 | |
| Mutation start: 73012020 | |
| Mutation end: 73012020 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.P365fs | |
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_101656_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_10700_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_109033_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110000_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110381_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_110545_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11218_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11256_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11259_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_11263_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_115462_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_115587_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_116330_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_121002_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_123667_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_12440_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_125045_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_129202_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_129996_LIHC_TCGA-DD-A1EG-01.png | |
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exon_skip_13071_LIHC_TCGA-DD-A1EG-01.png | |
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exon_skip_135763_LIHC_TCGA-DD-A1EG-01.png | |
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exon_skip_13608_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_138255_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_138373_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_138947_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_140996_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_141914_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_143553_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_143841_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_143843_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_144075_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_144116_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_144125_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_146762_LIHC_TCGA-DD-A1EG-01.png | |
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exon_skip_16928_LIHC_TCGA-DD-A1EG-01.png | |
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exon_skip_17943_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_18708_LIHC_TCGA-DD-A1EG-01.png | |
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exon_skip_19372_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_19902_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_20061_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_22876_LIHC_TCGA-DD-A1EG-01.png | |
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exon_skip_302181_LIHC_TCGA-DD-A1EG-01.png | |
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exon_skip_305815_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_3064_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_307291_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_307292_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_30744_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_307494_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_307495_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_30789_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_30792_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_308209_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_308211_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_308911_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_309060_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_309486_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_309505_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_309539_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_311823_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_311841_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_312748_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_315763_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_315773_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_316803_LIHC_TCGA-DD-A1EG-01.png | |
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| - 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 |
| IGROV1_OVARY | 73021920 | 73022002 | 73021958 | 73021958 | Frame_Shift_Del | G | - | p.L149fs |
| TC106_BONE | 73011512 | 73012043 | 73011713 | 73011714 | Frame_Shift_Ins | - | G | p.T468fs |
| MFE319_ENDOMETRIUM | 73010172 | 73010242 | 73010206 | 73010206 | Missense_Mutation | G | A | p.R718W |
| MFE319_ENDOMETRIUM | 73010172 | 73010299 | 73010206 | 73010206 | Missense_Mutation | G | A | p.R718W |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73010172 | 73010242 | 73010238 | 73010238 | Missense_Mutation | C | T | p.R707H |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73010172 | 73010299 | 73010238 | 73010238 | Missense_Mutation | C | T | p.R707H |
| HEC59_ENDOMETRIUM | 73010172 | 73010299 | 73010254 | 73010254 | Missense_Mutation | T | A | p.M702L |
| RT4_URINARY_TRACT | 73010172 | 73010299 | 73010283 | 73010283 | Missense_Mutation | G | A | p.T692M |
| SW684_SOFT_TISSUE | 73010172 | 73010299 | 73010290 | 73010290 | Missense_Mutation | C | T | p.A690T |
| HARA_LUNG | 73010969 | 73011119 | 73010977 | 73010977 | Missense_Mutation | G | C | p.A605G |
| HARA_LUNG | 73010969 | 73011116 | 73010977 | 73010977 | Missense_Mutation | G | C | p.A605G |
| A549_LUNG | 73010969 | 73011119 | 73010999 | 73010999 | Missense_Mutation | C | A | p.A598S |
| A549_LUNG | 73010969 | 73011116 | 73010999 | 73010999 | Missense_Mutation | C | A | p.A598S |
| NCIH650_LUNG | 73010969 | 73011119 | 73011095 | 73011095 | Missense_Mutation | A | T | p.C566S |
| NCIH650_LUNG | 73010969 | 73011116 | 73011095 | 73011095 | Missense_Mutation | A | T | p.C566S |
| NCIH1105_LUNG | 73011512 | 73012043 | 73011562 | 73011562 | Missense_Mutation | G | T | p.P518H |
| NCIH1573_LUNG | 73011512 | 73012043 | 73011643 | 73011643 | Missense_Mutation | G | A | p.P491L |
| SF268_CENTRAL_NERVOUS_SYSTEM | 73011512 | 73012043 | 73011713 | 73011713 | Missense_Mutation | T | G | p.T468P |
| SKES1_BONE | 73011512 | 73012043 | 73011713 | 73011713 | Missense_Mutation | T | G | p.T468P |
| SKMEL2_SKIN | 73011512 | 73012043 | 73011713 | 73011713 | Missense_Mutation | T | G | p.T468P |
| SKUT1_SOFT_TISSUE | 73011512 | 73012043 | 73011740 | 73011740 | Missense_Mutation | G | T | p.P459T |
| RT112_URINARY_TRACT | 73011512 | 73012043 | 73011809 | 73011809 | Missense_Mutation | G | C | p.P436A |
| LNCAPCLONEFGC_PROSTATE | 73011512 | 73012043 | 73011837 | 73011837 | Missense_Mutation | C | A | p.Q426H |
| GI1_CENTRAL_NERVOUS_SYSTEM | 73011512 | 73012043 | 73011880 | 73011880 | Missense_Mutation | G | A | p.P412L |
| SARC9371_BONE | 73011512 | 73012043 | 73011883 | 73011883 | Missense_Mutation | G | A | p.P411L |
| KYSE450_OESOPHAGUS | 73011512 | 73012043 | 73011962 | 73011962 | Missense_Mutation | G | A | p.R385W |
| SARC9371_BONE | 73011512 | 73012043 | 73011986 | 73011986 | Missense_Mutation | G | A | p.L377F |
| MFE319_ENDOMETRIUM | 73011512 | 73012043 | 73012019 | 73012019 | Missense_Mutation | A | C | p.L366V |
| CW2_LARGE_INTESTINE | 73011512 | 73012043 | 73012033 | 73012033 | Missense_Mutation | C | T | p.S361N |
| HCC56_LARGE_INTESTINE | 73013856 | 73014025 | 73013888 | 73013888 | Missense_Mutation | T | C | p.M347V |
| KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73013856 | 73014025 | 73013888 | 73013888 | Missense_Mutation | T | C | p.M347V |
| RERFLCSQ1_LUNG | 73013856 | 73014025 | 73013888 | 73013888 | Missense_Mutation | T | C | p.M347V |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73013856 | 73014025 | 73013890 | 73013890 | Missense_Mutation | G | A | p.A346V |
| AM38_CENTRAL_NERVOUS_SYSTEM | 73013856 | 73014025 | 73014011 | 73014011 | Missense_Mutation | A | C | p.S306A |
| SNUC5_LARGE_INTESTINE | 73021304 | 73021348 | 73021317 | 73021317 | Missense_Mutation | A | G | p.L202P |
| HEC251_ENDOMETRIUM | 73021661 | 73021750 | 73021711 | 73021711 | Missense_Mutation | C | T | p.E175K |
| HEC251_ENDOMETRIUM | 73021466 | 73021750 | 73021711 | 73021711 | Missense_Mutation | C | T | p.E175K |
| TOV21G_OVARY | 73021661 | 73021750 | 73021711 | 73021711 | Missense_Mutation | C | T | p.E175K |
| TOV21G_OVARY | 73021466 | 73021750 | 73021711 | 73021711 | Missense_Mutation | C | T | p.E175K |
| RL952_ENDOMETRIUM | 73021920 | 73022002 | 73021963 | 73021963 | Missense_Mutation | G | A | p.T147I |
| MM127_SKIN | 73010969 | 73011119 | 73010969 | 73010969 | Splice_Site | C | T | p.G608S |
| MM127_SKIN | 73010969 | 73011116 | 73010969 | 73010969 | Splice_Site | C | T | p.G608S |
| HT1080_SOFT_TISSUE | 73010969 | 73011119 | 73010970 | 73010970 | Splice_Site | G | A | p.S607S |
| HT1080_SOFT_TISSUE | 73010969 | 73011116 | 73010970 | 73010970 | Splice_Site | G | A | p.S607S |
| NCIH1838_LUNG | 73010969 | 73011119 | 73010970 | 73010970 | Splice_Site | G | A | p.S607S |
| NCIH1838_LUNG | 73010969 | 73011116 | 73010970 | 73010970 | Splice_Site | G | A | p.S607S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MLXIPL |
| 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 MLXIPL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MLXIPL |
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RelatedDrugs for MLXIPL |
| 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 MLXIPL |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MLXIPL | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| MLXIPL | C2239176 | Liver carcinoma | 1 | CTD_human |
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