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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 AIFM3 |
 Gene summary |
| Gene information | Gene symbol | AIFM3 | Gene ID | 150209 |
| Gene name | apoptosis inducing factor, mitochondria associated 3 | |
| Synonyms | AIFL | |
| Cytomap | 22q11.21 | |
| Type of gene | protein-coding | |
| Description | apoptosis-inducing factor 3apoptosis-inducing factor likeapoptosis-inducing factor, mitochondrion-associated, 3 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96NN9 | |
| Context | PubMed: AIFM3 [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 |
| AIFM3 | GO:0097194 | execution phase of apoptosis | 15764604 |
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Exon skipping events across known transcript of Ensembl for AIFM3 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 AIFM3 |
| 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 AIFM3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_363500 | 22 | 21319464:21319495:21320793:21320834:21322092:21322263 | 21320793:21320834 | ENSG00000183773.11 | ENST00000441376.2,ENST00000472575.1 |
| exon_skip_363502 | 22 | 21327659:21327809:21328046:21328156:21328351:21328385 | 21328046:21328156 | ENSG00000183773.11 | ENST00000434714.1,ENST00000441376.2,ENST00000333607.6,ENST00000426113.1,ENST00000440238.2,ENST00000405089.1,ENST00000399163.2,ENST00000399167.2 |
| exon_skip_363503 | 22 | 21328813:21328910:21328992:21329105:21329980:21330067 | 21328992:21329105 | ENSG00000183773.11 | ENST00000434714.1,ENST00000335375.5,ENST00000333607.6,ENST00000440238.2,ENST00000405089.1,ENST00000399163.2,ENST00000399167.2 |
| exon_skip_363504 | 22 | 21328813:21328910:21329016:21329105:21329980:21330067 | 21329016:21329105 | ENSG00000183773.11 | ENST00000465606.1 |
| exon_skip_363506 | 22 | 21330696:21330827:21330939:21331055:21331155:21331227 | 21330939:21331055 | ENSG00000183773.11 | ENST00000335375.5,ENST00000333607.6,ENST00000483107.1,ENST00000440238.2,ENST00000405089.1,ENST00000399163.2,ENST00000465606.1,ENST00000399167.2 |
| exon_skip_363507 | 22 | 21331155:21331227:21331320:21331384:21331988:21332065 | 21331320:21331384 | ENSG00000183773.11 | ENST00000335375.5,ENST00000333607.6,ENST00000440238.2,ENST00000405089.1,ENST00000399163.2,ENST00000465606.1,ENST00000399167.2 |
| exon_skip_363509 | 22 | 21331320:21331384:21331988:21332065:21332176:21332294 | 21331988:21332065 | ENSG00000183773.11 | ENST00000335375.5,ENST00000333607.6,ENST00000440238.2,ENST00000405089.1,ENST00000399163.2,ENST00000465606.1,ENST00000399167.2 |
| exon_skip_363512 | 22 | 21334308:21334413:21335035:21335056:21335280:21335610 | 21335035:21335056 | ENSG00000183773.11 | ENST00000440238.2,ENST00000399167.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AIFM3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_363500 | 22 | 21319464:21319495:21320793:21320834:21322092:21322263 | 21320793:21320834 | ENSG00000183773.11 | ENST00000441376.2,ENST00000472575.1 |
| exon_skip_363502 | 22 | 21327659:21327809:21328046:21328156:21328351:21328385 | 21328046:21328156 | ENSG00000183773.11 | ENST00000399167.2,ENST00000399163.2,ENST00000441376.2,ENST00000434714.1,ENST00000426113.1,ENST00000405089.1,ENST00000440238.2,ENST00000333607.6 |
| exon_skip_363503 | 22 | 21328813:21328910:21328992:21329105:21329980:21330067 | 21328992:21329105 | ENSG00000183773.11 | ENST00000399167.2,ENST00000399163.2,ENST00000434714.1,ENST00000405089.1,ENST00000335375.5,ENST00000440238.2,ENST00000333607.6 |
| exon_skip_363504 | 22 | 21328813:21328910:21329016:21329105:21329980:21330067 | 21329016:21329105 | ENSG00000183773.11 | ENST00000465606.1 |
| exon_skip_363506 | 22 | 21330696:21330827:21330939:21331055:21331155:21331227 | 21330939:21331055 | ENSG00000183773.11 | ENST00000399167.2,ENST00000399163.2,ENST00000405089.1,ENST00000335375.5,ENST00000440238.2,ENST00000333607.6,ENST00000465606.1,ENST00000483107.1 |
| exon_skip_363507 | 22 | 21331155:21331227:21331320:21331384:21331988:21332065 | 21331320:21331384 | ENSG00000183773.11 | ENST00000399167.2,ENST00000399163.2,ENST00000405089.1,ENST00000335375.5,ENST00000440238.2,ENST00000333607.6,ENST00000465606.1 |
| exon_skip_363509 | 22 | 21331320:21331384:21331988:21332065:21332176:21332294 | 21331988:21332065 | ENSG00000183773.11 | ENST00000399167.2,ENST00000399163.2,ENST00000405089.1,ENST00000335375.5,ENST00000440238.2,ENST00000333607.6,ENST00000465606.1 |
| exon_skip_363512 | 22 | 21334308:21334413:21335035:21335056:21335280:21335610 | 21335035:21335056 | ENSG00000183773.11 | ENST00000399167.2,ENST00000440238.2 |
| 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 AIFM3 |
| 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 |
| ENST00000399167 | 21328046 | 21328156 | Frame-shift |
| ENST00000440238 | 21328046 | 21328156 | Frame-shift |
| ENST00000399167 | 21328992 | 21329105 | Frame-shift |
| ENST00000440238 | 21328992 | 21329105 | Frame-shift |
| ENST00000399167 | 21330939 | 21331055 | Frame-shift |
| ENST00000440238 | 21330939 | 21331055 | Frame-shift |
| ENST00000399167 | 21331320 | 21331384 | Frame-shift |
| ENST00000440238 | 21331320 | 21331384 | Frame-shift |
| ENST00000399167 | 21331988 | 21332065 | Frame-shift |
| ENST00000440238 | 21331988 | 21332065 | Frame-shift |
| ENST00000399167 | 21335035 | 21335056 | In-frame |
| ENST00000440238 | 21335035 | 21335056 | 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 |
| ENST00000399167 | 21328046 | 21328156 | Frame-shift |
| ENST00000440238 | 21328046 | 21328156 | Frame-shift |
| ENST00000399167 | 21328992 | 21329105 | Frame-shift |
| ENST00000440238 | 21328992 | 21329105 | Frame-shift |
| ENST00000399167 | 21330939 | 21331055 | Frame-shift |
| ENST00000440238 | 21330939 | 21331055 | Frame-shift |
| ENST00000399167 | 21331320 | 21331384 | Frame-shift |
| ENST00000440238 | 21331320 | 21331384 | Frame-shift |
| ENST00000399167 | 21331988 | 21332065 | Frame-shift |
| ENST00000440238 | 21331988 | 21332065 | Frame-shift |
| ENST00000399167 | 21335035 | 21335056 | In-frame |
| ENST00000440238 | 21335035 | 21335056 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AIFM3 |
| 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 AIFM3 |
| - 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 |
| HNSC | TCGA-CQ-A4CG-01 | exon_skip_363502 | 21328047 | 21328156 | 21328069 | 21328070 | Frame_Shift_Ins | - | G | p.G90fs |
| LUAD | TCGA-78-7155-01 | exon_skip_363503 | 21328993 | 21329105 | 21329084 | 21329084 | Nonsense_Mutation | C | A | p.Y233* |
| LUAD | TCGA-78-7155-01 | exon_skip_363504 | 21329017 | 21329105 | 21329084 | 21329084 | Nonsense_Mutation | C | A | p.Y233* |
| - 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 |
| SNU1040_LARGE_INTESTINE | 21328047 | 21328156 | 21328051 | 21328051 | Missense_Mutation | C | T | p.R84W |
| NCIH1869_LUNG | 21328047 | 21328156 | 21328052 | 21328052 | Missense_Mutation | G | A | p.R84Q |
| SW684_SOFT_TISSUE | 21328047 | 21328156 | 21328112 | 21328112 | Missense_Mutation | C | T | p.A104V |
| A2058_SKIN | 21328047 | 21328156 | 21328125 | 21328125 | Missense_Mutation | G | C | p.K108N |
| SW403_LARGE_INTESTINE | 21328047 | 21328156 | 21328139 | 21328139 | Missense_Mutation | G | A | p.G113D |
| HEC59_ENDOMETRIUM | 21328993 | 21329105 | 21329002 | 21329002 | Missense_Mutation | G | A | p.G206D |
| SNU1040_LARGE_INTESTINE | 21328993 | 21329105 | 21329047 | 21329047 | Missense_Mutation | G | A | p.R221Q |
| SNU1040_LARGE_INTESTINE | 21329017 | 21329105 | 21329047 | 21329047 | Missense_Mutation | G | A | p.R221Q |
| HEC1A_ENDOMETRIUM | 21328993 | 21329105 | 21329076 | 21329076 | Missense_Mutation | C | A | p.L231I |
| HEC1A_ENDOMETRIUM | 21329017 | 21329105 | 21329076 | 21329076 | Missense_Mutation | C | A | p.L231I |
| MDAPCA2B_PROSTATE | 21330940 | 21331055 | 21330964 | 21330964 | Missense_Mutation | C | T | p.T352M |
| OVMANA_OVARY | 21330940 | 21331055 | 21330981 | 21330981 | Missense_Mutation | G | A | p.V358M |
| NCIH1836_LUNG | 21330940 | 21331055 | 21331033 | 21331033 | Missense_Mutation | G | C | p.R375P |
| RT112_URINARY_TRACT | 21331321 | 21331384 | 21331360 | 21331360 | Missense_Mutation | G | A | p.A420T |
| RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 21331989 | 21332065 | 21332024 | 21332024 | Missense_Mutation | G | A | p.G440S |
| HARA_LUNG | 21330940 | 21331055 | 21331002 | 21331002 | Nonsense_Mutation | G | T | p.E365* |
| SNGM_ENDOMETRIUM | 21328993 | 21329105 | 21328993 | 21328993 | Splice_Site | G | A | p.G203D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AIFM3 |
| 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 AIFM3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AIFM3 |
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RelatedDrugs for AIFM3 |
| 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 AIFM3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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