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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 TBC1D22A |
 Gene summary |
| Gene information | Gene symbol | TBC1D22A | Gene ID | 25771 |
| Gene name | TBC1 domain family member 22A | |
| Synonyms | C22orf4|HSC79E021 | |
| Cytomap | 22q13.31 | |
| Type of gene | protein-coding | |
| Description | TBC1 domain family member 22Aputative GTPase activator | |
| Modification date | 20180523 | |
| UniProtAcc | Q8WUA7 | |
| Context | PubMed: TBC1D22A [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 TBC1D22A 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 TBC1D22A |
| 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 TBC1D22A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_366672 | 22 | 47158583:47158745:47184876:47184934:47188416:47188473 | 47184876:47184934 | ENSG00000054611.9 | ENST00000496139.1 |
| exon_skip_366673 | 22 | 47158583:47158745:47185208:47185368:47188416:47188473 | 47185208:47185368 | ENSG00000054611.9 | ENST00000441936.1 |
| exon_skip_366674 | 22 | 47158583:47158745:47188416:47188473:47189397:47189513 | 47188416:47188473 | ENSG00000054611.9 | ENST00000380995.1,ENST00000407381.3,ENST00000394449.2 |
| exon_skip_366679 | 22 | 47159638:47160183:47163944:47164074:47188416:47188473 | 47163944:47164074 | ENSG00000054611.9 | ENST00000441162.1 |
| exon_skip_366682 | 22 | 47169823:47170132:47188416:47188473:47189397:47189513 | 47188416:47188473 | ENSG00000054611.9 | ENST00000406733.1 |
| exon_skip_366684 | 22 | 47188416:47188473:47188564:47188701:47189397:47189513 | 47188564:47188701 | ENSG00000054611.9 | ENST00000496139.1 |
| exon_skip_366686 | 22 | 47189397:47189738:47193340:47193517:47274548:47274619 | 47193340:47193517 | ENSG00000054611.9 | ENST00000380995.1,ENST00000441162.1,ENST00000406733.1,ENST00000337137.4 |
| exon_skip_366688 | 22 | 47193340:47193517:47274548:47274619:47287161:47287286 | 47274548:47274619 | ENSG00000054611.9 | ENST00000380995.1,ENST00000441162.1,ENST00000406733.1,ENST00000337137.4 |
| exon_skip_366697 | 22 | 47287161:47287290:47290679:47290742:47307969:47308084 | 47290679:47290742 | ENSG00000054611.9 | ENST00000380995.1,ENST00000407381.3,ENST00000441162.1,ENST00000406733.1,ENST00000394449.2,ENST00000337137.4,ENST00000355704.3 |
| exon_skip_366699 | 22 | 47290679:47290742:47307969:47308084:47370185:47370295 | 47307969:47308084 | ENSG00000054611.9 | ENST00000407381.3,ENST00000406733.1,ENST00000394449.2,ENST00000337137.4,ENST00000355704.3 |
| exon_skip_366703 | 22 | 47307969:47308084:47309229:47309342:47393529:47393605 | 47309229:47309342 | ENSG00000054611.9 | ENST00000441162.1 |
| exon_skip_366704 | 22 | 47307969:47308084:47370185:47370295:47393529:47393605 | 47370185:47370295 | ENSG00000054611.9 | ENST00000407381.3,ENST00000406733.1,ENST00000394449.2,ENST00000337137.4,ENST00000355704.3 |
| exon_skip_366712 | 22 | 47370185:47370295:47393529:47393605:47432966:47433094 | 47393529:47393605 | ENSG00000054611.9 | ENST00000407381.3,ENST00000406733.1,ENST00000394449.2,ENST00000337137.4,ENST00000355704.3 |
| exon_skip_366715 | 22 | 47393529:47393605:47432966:47433094:47507403:47507499 | 47432966:47433094 | ENSG00000054611.9 | ENST00000407381.3,ENST00000441162.1,ENST00000406733.1,ENST00000394449.2,ENST00000337137.4,ENST00000355704.3 |
| exon_skip_366718 | 22 | 47432966:47433094:47507403:47507499:47569140:47569726 | 47507403:47507499 | ENSG00000054611.9 | ENST00000407381.3,ENST00000441162.1,ENST00000406733.1,ENST00000394449.2,ENST00000337137.4,ENST00000355704.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TBC1D22A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_366672 | 22 | 47158583:47158745:47184876:47184934:47188416:47188473 | 47184876:47184934 | ENSG00000054611.9 | ENST00000496139.1 |
| exon_skip_366673 | 22 | 47158583:47158745:47185208:47185368:47188416:47188473 | 47185208:47185368 | ENSG00000054611.9 | ENST00000441936.1 |
| exon_skip_366674 | 22 | 47158583:47158745:47188416:47188473:47189397:47189513 | 47188416:47188473 | ENSG00000054611.9 | ENST00000380995.1,ENST00000407381.3,ENST00000394449.2 |
| exon_skip_366675 | 22 | 47158583:47158745:47189397:47189738:47274548:47274619 | 47189397:47189738 | ENSG00000054611.9 | ENST00000355704.3 |
| exon_skip_366679 | 22 | 47159638:47160183:47163944:47164074:47188416:47188473 | 47163944:47164074 | ENSG00000054611.9 | ENST00000441162.1 |
| exon_skip_366683 | 22 | 47188416:47188473:47188564:47188659:47189397:47189568 | 47188564:47188659 | ENSG00000054611.9 | ENST00000486163.1 |
| exon_skip_366684 | 22 | 47188416:47188473:47188564:47188701:47189397:47189513 | 47188564:47188701 | ENSG00000054611.9 | ENST00000496139.1 |
| exon_skip_366686 | 22 | 47189397:47189738:47193340:47193517:47274548:47274619 | 47193340:47193517 | ENSG00000054611.9 | ENST00000337137.4,ENST00000380995.1,ENST00000441162.1,ENST00000406733.1 |
| exon_skip_366688 | 22 | 47193340:47193517:47274548:47274619:47287161:47287286 | 47274548:47274619 | ENSG00000054611.9 | ENST00000337137.4,ENST00000380995.1,ENST00000441162.1,ENST00000406733.1 |
| exon_skip_366697 | 22 | 47287161:47287290:47290679:47290742:47307969:47308084 | 47290679:47290742 | ENSG00000054611.9 | ENST00000337137.4,ENST00000380995.1,ENST00000407381.3,ENST00000355704.3,ENST00000394449.2,ENST00000441162.1,ENST00000406733.1 |
| exon_skip_366699 | 22 | 47290679:47290742:47307969:47308084:47370185:47370295 | 47307969:47308084 | ENSG00000054611.9 | ENST00000337137.4,ENST00000407381.3,ENST00000355704.3,ENST00000394449.2,ENST00000406733.1 |
| exon_skip_366703 | 22 | 47307969:47308084:47309229:47309342:47393529:47393605 | 47309229:47309342 | ENSG00000054611.9 | ENST00000441162.1 |
| exon_skip_366704 | 22 | 47307969:47308084:47370185:47370295:47393529:47393605 | 47370185:47370295 | ENSG00000054611.9 | ENST00000337137.4,ENST00000407381.3,ENST00000355704.3,ENST00000394449.2,ENST00000406733.1 |
| exon_skip_366712 | 22 | 47370185:47370295:47393529:47393605:47432966:47433094 | 47393529:47393605 | ENSG00000054611.9 | ENST00000337137.4,ENST00000407381.3,ENST00000355704.3,ENST00000394449.2,ENST00000406733.1 |
| exon_skip_366715 | 22 | 47393529:47393605:47432966:47433094:47507403:47507499 | 47432966:47433094 | ENSG00000054611.9 | ENST00000337137.4,ENST00000407381.3,ENST00000355704.3,ENST00000394449.2,ENST00000441162.1,ENST00000406733.1 |
| exon_skip_366718 | 22 | 47432966:47433094:47507403:47507499:47569140:47569726 | 47507403:47507499 | ENSG00000054611.9 | ENST00000337137.4,ENST00000407381.3,ENST00000355704.3,ENST00000394449.2,ENST00000441162.1,ENST00000406733.1 |
| 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 TBC1D22A |
| 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 |
| ENST00000337137 | 47274548 | 47274619 | Frame-shift |
| ENST00000337137 | 47307969 | 47308084 | Frame-shift |
| ENST00000337137 | 47370185 | 47370295 | Frame-shift |
| ENST00000337137 | 47393529 | 47393605 | Frame-shift |
| ENST00000337137 | 47432966 | 47433094 | Frame-shift |
| ENST00000337137 | 47193340 | 47193517 | In-frame |
| ENST00000337137 | 47290679 | 47290742 | In-frame |
| ENST00000337137 | 47507403 | 47507499 | 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 |
| ENST00000337137 | 47274548 | 47274619 | Frame-shift |
| ENST00000337137 | 47307969 | 47308084 | Frame-shift |
| ENST00000337137 | 47370185 | 47370295 | Frame-shift |
| ENST00000337137 | 47393529 | 47393605 | Frame-shift |
| ENST00000337137 | 47432966 | 47433094 | Frame-shift |
| ENST00000337137 | 47193340 | 47193517 | In-frame |
| ENST00000337137 | 47290679 | 47290742 | In-frame |
| ENST00000337137 | 47507403 | 47507499 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TBC1D22A |
| 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 |
| ENST00000337137 | 3804 | 517 | 47193340 | 47193517 | 627 | 803 | 153 | 212 |
| ENST00000337137 | 3804 | 517 | 47290679 | 47290742 | 1004 | 1066 | 279 | 300 |
| ENST00000337137 | 3804 | 517 | 47507403 | 47507499 | 1496 | 1591 | 443 | 475 |
| 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 |
| ENST00000337137 | 3804 | 517 | 47193340 | 47193517 | 627 | 803 | 153 | 212 |
| ENST00000337137 | 3804 | 517 | 47290679 | 47290742 | 1004 | 1066 | 279 | 300 |
| ENST00000337137 | 3804 | 517 | 47507403 | 47507499 | 1496 | 1591 | 443 | 475 |
| 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 TBC1D22A |
| - 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-CG-5723-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188444 | 47188444 | Frame_Shift_Del | C | - | p.H30fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_366686 | 47193341 | 47193517 | 47193501 | 47193501 | Frame_Shift_Del | C | - | p.G207fs |
| COAD | TCGA-AU-6004-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.H30fs |
| KIRC | TCGA-A3-3308-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.P30fs |
| KIRC | TCGA-A3-3319-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.P30fs |
| KIRC | TCGA-A3-3320-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.P30fs |
| KIRC | TCGA-A3-3372-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.P30fs |
| KIRC | TCGA-AK-3440-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.P30fs |
| KIRC | TCGA-AK-3465-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.P30fs |
| KIRC | TCGA-AS-3778-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.P30fs |
| LUAD | TCGA-44-2662-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.P30fs |
| LUAD | TCGA-44-2665-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.P30fs |
| LUAD | TCGA-44-2666-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.P30fs |
| LUAD | TCGA-55-1592-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.P30fs |
| LUAD | TCGA-55-1596-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.P30fs |
| LUAD | TCGA-67-3770-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.P30fs |
| STAD | TCGA-CG-4442-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.H30fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188443 | 47188444 | Frame_Shift_Ins | - | C | p.H30fs |
| STAD | TCGA-CG-4442-01 | exon_skip_366682 exon_skip_366674 | 47188417 | 47188473 | 47188444 | 47188445 | Frame_Shift_Ins | - | C | p.H30fs |
| SKCM | TCGA-EE-A2GP-06 | exon_skip_366712 | 47393530 | 47393605 | 47393560 | 47393560 | Nonsense_Mutation | C | T | p.Q386* |
| SKCM | TCGA-EE-A2GP-06 | exon_skip_366712 | 47393530 | 47393605 | 47393560 | 47393560 | Nonsense_Mutation | C | T | p.Q386X |
| SKCM | TCGA-3N-A9WC-06 | exon_skip_366715 | 47432967 | 47433094 | 47433028 | 47433028 | Nonsense_Mutation | G | A | p.W421* |
| KIRP | TCGA-A4-7288-01 | exon_skip_366718 | 47507404 | 47507499 | 47507402 | 47507402 | Splice_Site | A | G | . |
| LUSC | TCGA-33-4566-01 | exon_skip_366718 | 47507404 | 47507499 | 47507500 | 47507500 | Splice_Site | G | T | p.Q475_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 |
| KPNYS_AUTONOMIC_GANGLIA | 47188417 | 47188473 | 47188421 | 47188421 | Missense_Mutation | C | G | p.Q23E |
| SNU503_LARGE_INTESTINE | 47188417 | 47188473 | 47188449 | 47188449 | Missense_Mutation | C | A | p.P32H |
| RERFLCKJ_LUNG | 47188417 | 47188473 | 47188466 | 47188466 | Missense_Mutation | C | G | p.H38D |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47193341 | 47193517 | 47193358 | 47193358 | Missense_Mutation | G | A | p.A160T |
| SNU1040_LARGE_INTESTINE | 47193341 | 47193517 | 47193400 | 47193400 | Missense_Mutation | G | A | p.V174I |
| MELJUSO_SKIN | 47193341 | 47193517 | 47193491 | 47193491 | Missense_Mutation | T | G | p.L204R |
| MM386_SKIN | 47290680 | 47290742 | 47290699 | 47290699 | Missense_Mutation | G | T | p.R286L |
| SNU1040_LARGE_INTESTINE | 47290680 | 47290742 | 47290699 | 47290699 | Missense_Mutation | G | A | p.R286H |
| GP2D_LARGE_INTESTINE | 47307970 | 47308084 | 47308006 | 47308006 | Missense_Mutation | C | T | p.H313Y |
| GP5D_LARGE_INTESTINE | 47307970 | 47308084 | 47308006 | 47308006 | Missense_Mutation | C | T | p.H313Y |
| HEC59_ENDOMETRIUM | 47307970 | 47308084 | 47308045 | 47308045 | Missense_Mutation | G | A | p.V326I |
| SNU1040_LARGE_INTESTINE | 47307970 | 47308084 | 47308045 | 47308045 | Missense_Mutation | G | A | p.V326I |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 47370186 | 47370295 | 47370263 | 47370263 | Missense_Mutation | T | C | p.W365R |
| HCC1599_BREAST | 47432967 | 47433094 | 47433008 | 47433008 | Missense_Mutation | C | G | p.L415V |
| NCIBL2009_MATCHED_NORMAL_TISSUE | 47432967 | 47433094 | 47433011 | 47433011 | Missense_Mutation | C | A | p.Q416K |
| SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47432967 | 47433094 | 47433071 | 47433071 | Missense_Mutation | A | G | p.I436V |
| HCT15_LARGE_INTESTINE | 47507404 | 47507499 | 47507450 | 47507450 | Missense_Mutation | C | A | p.A459D |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 47370186 | 47370295 | 47370262 | 47370262 | Nonsense_Mutation | C | A | p.Y364* |
| GOTO_AUTONOMIC_GANGLIA | 47370186 | 47370295 | 47370293 | 47370293 | Nonsense_Mutation | C | T | p.Q375* |
| NCIH1573_LUNG | 47432967 | 47433094 | 47433067 | 47433067 | Nonsense_Mutation | T | A | p.C434* |
| SNU81_LARGE_INTESTINE | 47507404 | 47507499 | 47507485 | 47507485 | Nonsense_Mutation | G | T | p.E471* |
| KYSE450_OESOPHAGUS | 47274549 | 47274619 | 47274618 | 47274618 | Splice_Site | C | T | p.S236L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TBC1D22A |
| 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 TBC1D22A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBC1D22A |
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RelatedDrugs for TBC1D22A |
| 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 TBC1D22A |
| 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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