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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 FUNDC2 |
 Gene summary |
| Gene information | Gene symbol | FUNDC2 | Gene ID | 65991 |
| Gene name | FUN14 domain containing 2 | |
| Synonyms | DC44|HCBP6|HCC3|PD03104 | |
| Cytomap | Xq28 | |
| Type of gene | protein-coding | |
| Description | FUN14 domain-containing protein 2HCC-3cervical cancer oncogene 3cervical cancer proto-oncogene 3 proteinhepatitis C virus core-binding protein 6 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BWH2 | |
| Context | PubMed: FUNDC2 [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 FUNDC2 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 FUNDC2 |
| 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 FUNDC2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513394 | X | 154254959:154255346:154261677:154261828:154274783:154274859 | 154261677:154261828 | ENSG00000165775.13 | ENST00000369498.3 |
| exon_skip_513398 | X | 154261700:154261828:154274783:154274859:154279944:154280007 | 154274783:154274859 | ENSG00000165775.13 | ENST00000484175.1,ENST00000475165.1,ENST00000369498.3 |
| exon_skip_513401 | X | 154261700:154261828:154279944:154280076:154282869:154282888 | 154279944:154280076 | ENSG00000165775.13 | ENST00000485289.1 |
| exon_skip_513406 | X | 154274783:154274859:154275643:154275666:154279944:154280007 | 154275643:154275666 | ENSG00000165775.13 | ENST00000456179.1 |
| exon_skip_513408 | X | 154274783:154274859:154279944:154280076:154282869:154282888 | 154279944:154280076 | ENSG00000165775.13 | ENST00000484175.1,ENST00000369498.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FUNDC2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_513394 | X | 154254959:154255346:154261677:154261828:154274783:154274859 | 154261677:154261828 | ENSG00000165775.13 | ENST00000369498.3 |
| exon_skip_513398 | X | 154261700:154261828:154274783:154274859:154279944:154280007 | 154274783:154274859 | ENSG00000165775.13 | ENST00000475165.1,ENST00000369498.3,ENST00000484175.1 |
| exon_skip_513401 | X | 154261700:154261828:154279944:154280076:154282869:154282888 | 154279944:154280076 | ENSG00000165775.13 | ENST00000485289.1 |
| exon_skip_513406 | X | 154274783:154274859:154275643:154275666:154279944:154280007 | 154275643:154275666 | ENSG00000165775.13 | ENST00000456179.1 |
| exon_skip_513408 | X | 154274783:154274859:154279944:154280076:154282869:154282888 | 154279944:154280076 | ENSG00000165775.13 | ENST00000369498.3,ENST00000484175.1 |
| 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 FUNDC2 |
| 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 |
| ENST00000369498 | 154261677 | 154261828 | Frame-shift |
| ENST00000369498 | 154274783 | 154274859 | Frame-shift |
| ENST00000369498 | 154279944 | 154280076 | 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 |
| ENST00000369498 | 154261677 | 154261828 | Frame-shift |
| ENST00000369498 | 154274783 | 154274859 | Frame-shift |
| ENST00000369498 | 154279944 | 154280076 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FUNDC2 |
| 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 |
| ENST00000369498 | 6472 | 189 | 154279944 | 154280076 | 615 | 746 | 120 | 164 |
| 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 |
| ENST00000369498 | 6472 | 189 | 154279944 | 154280076 | 615 | 746 | 120 | 164 |
| 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 |
| Q9BWH2 | 120 | 164 | 1 | 189 | Chain | ID=PRO_0000314615;Note=FUN14 domain-containing protein 2 |
| Q9BWH2 | 120 | 164 | 151 | 151 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:19690332,PMID:21406692,PMID:23186163,PMID |
| 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 |
| Q9BWH2 | 120 | 164 | 1 | 189 | Chain | ID=PRO_0000314615;Note=FUN14 domain-containing protein 2 |
| Q9BWH2 | 120 | 164 | 151 | 151 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:19690332,PMID:21406692,PMID:23186163,PMID |
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SNVs in the skipped exons for FUNDC2 |
| - 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 |
| STAD | TCGA-BR-6852-01 | exon_skip_513398 | 154274784 | 154274859 | 154274835 | 154274835 | Frame_Shift_Del | G | - | p.V112fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_513398 | 154274784 | 154274859 | 154274845 | 154274845 | Frame_Shift_Del | T | - | p.F117fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_513398 | 154274784 | 154274859 | 154274845 | 154274845 | Frame_Shift_Del | T | - | p.F117fs |
| LUAD | TCGA-55-7725-01 | exon_skip_513398 | 154274784 | 154274859 | 154274857 | 154274857 | Nonsense_Mutation | C | T | p.Q120* |
| - 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 |
| JEG3_PLACENTA | 154261678 | 154261828 | 154261718 | 154261718 | Missense_Mutation | A | T | p.E58D |
| NCIH1048_LUNG | 154261678 | 154261828 | 154261797 | 154261797 | Missense_Mutation | A | G | p.T85A |
| GP2D_LARGE_INTESTINE | 154279945 | 154280076 | 154279971 | 154279971 | Missense_Mutation | A | C | p.K129N |
| GP5D_LARGE_INTESTINE | 154279945 | 154280076 | 154279971 | 154279971 | Missense_Mutation | A | C | p.K129N |
| NCIH1417_LUNG | 154274784 | 154274859 | 154274859 | 154274859 | Splice_Site | G | T | p.Q120H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FUNDC2 |
| 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 FUNDC2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FUNDC2 |
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RelatedDrugs for FUNDC2 |
| 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 FUNDC2 |
| 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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