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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 ARHGAP22 |
Gene summary |
| Gene information | Gene symbol | ARHGAP22 | Gene ID | 58504 |
| Gene name | Rho GTPase activating protein 22 | |
| Synonyms | RhoGAP2|RhoGap22 | |
| Cytomap | 10q11.22-q11.23 | |
| Type of gene | protein-coding | |
| Description | rho GTPase-activating protein 22rho-type GTPase-activating protein 22 | |
| Modification date | 20180524 | |
| UniProtAcc | Q7Z5H3 | |
| Context | PubMed: ARHGAP22 [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 ARHGAP22 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 ARHGAP22 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ARHGAP22 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_49166 | 10 | 49654600:49654662:49658303:49659183:49661346:49661468 | 49658303:49659183 | ENSG00000128805.10 | ENST00000417247.2,ENST00000249601.4,ENST00000417912.2,ENST00000374172.1,ENST00000435790.2,ENST00000374170.1,ENST00000460425.1 |
| exon_skip_49169 | 10 | 49661399:49661468:49662130:49662204:49663044:49663177 | 49662130:49662204 | ENSG00000128805.10 | ENST00000515523.1,ENST00000417247.2,ENST00000249601.4,ENST00000417912.2,ENST00000374172.1,ENST00000435790.2,ENST00000471013.1 |
| exon_skip_49170 | 10 | 49661399:49661468:49662130:49662204:49663096:49663177 | 49662130:49662204 | ENSG00000128805.10 | ENST00000460425.1 |
| exon_skip_49173 | 10 | 49663096:49663177:49667726:49667934:49674618:49674739 | 49667726:49667934 | ENSG00000128805.10 | ENST00000489984.1 |
| exon_skip_49174 | 10 | 49663096:49663177:49667726:49667934:49687630:49687807 | 49667726:49667934 | ENSG00000128805.10 | ENST00000417912.2,ENST00000374172.1 |
| exon_skip_49175 | 10 | 49663096:49663177:49667726:49667934:49687678:49687807 | 49667726:49667934 | ENSG00000128805.10 | ENST00000417247.2,ENST00000249601.4,ENST00000435790.2,ENST00000460425.1 |
| exon_skip_49183 | 10 | 49667726:49667934:49687630:49687807:49763507:49763595 | 49687630:49687807 | ENSG00000128805.10 | ENST00000417912.2,ENST00000374172.1 |
| exon_skip_49184 | 10 | 49667726:49667934:49687678:49687807:49732097:49732281 | 49687678:49687807 | ENSG00000128805.10 | ENST00000374170.1 |
| exon_skip_49185 | 10 | 49667726:49667934:49687678:49687807:49763507:49763595 | 49687678:49687807 | ENSG00000128805.10 | ENST00000249601.4,ENST00000435790.2,ENST00000460425.1 |
| exon_skip_49186 | 10 | 49687678:49687807:49763507:49763595:49790997:49791092 | 49763507:49763595 | ENSG00000128805.10 | ENST00000249601.4,ENST00000417912.2,ENST00000435790.2,ENST00000460425.1 |
| exon_skip_49187 | 10 | 49763507:49763595:49790997:49791197:49812807:49812997 | 49790997:49791197 | ENSG00000128805.10 | ENST00000417912.2 |
| exon_skip_49188 | 10 | 49763507:49763595:49790997:49791197:49860278:49860366 | 49790997:49791197 | ENSG00000128805.10 | ENST00000435790.2,ENST00000460425.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARHGAP22 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_49166 | 10 | 49654600:49654662:49658303:49659183:49661346:49661468 | 49658303:49659183 | ENSG00000128805.10 | ENST00000249601.4,ENST00000374170.1,ENST00000374172.1,ENST00000417247.2,ENST00000435790.2,ENST00000417912.2,ENST00000460425.1 |
| exon_skip_49169 | 10 | 49661399:49661468:49662130:49662204:49663044:49663177 | 49662130:49662204 | ENSG00000128805.10 | ENST00000249601.4,ENST00000374172.1,ENST00000417247.2,ENST00000435790.2,ENST00000417912.2,ENST00000515523.1,ENST00000471013.1 |
| exon_skip_49170 | 10 | 49661399:49661468:49662130:49662204:49663096:49663177 | 49662130:49662204 | ENSG00000128805.10 | ENST00000460425.1 |
| exon_skip_49173 | 10 | 49663096:49663177:49667726:49667934:49674618:49674739 | 49667726:49667934 | ENSG00000128805.10 | ENST00000489984.1 |
| exon_skip_49174 | 10 | 49663096:49663177:49667726:49667934:49687630:49687807 | 49667726:49667934 | ENSG00000128805.10 | ENST00000374172.1,ENST00000417912.2 |
| exon_skip_49175 | 10 | 49663096:49663177:49667726:49667934:49687678:49687807 | 49667726:49667934 | ENSG00000128805.10 | ENST00000249601.4,ENST00000417247.2,ENST00000435790.2,ENST00000460425.1 |
| exon_skip_49183 | 10 | 49667726:49667934:49687630:49687807:49763507:49763595 | 49687630:49687807 | ENSG00000128805.10 | ENST00000374172.1,ENST00000417912.2 |
| exon_skip_49184 | 10 | 49667726:49667934:49687678:49687807:49732097:49732281 | 49687678:49687807 | ENSG00000128805.10 | ENST00000374170.1 |
| exon_skip_49185 | 10 | 49667726:49667934:49687678:49687807:49763507:49763595 | 49687678:49687807 | ENSG00000128805.10 | ENST00000249601.4,ENST00000435790.2,ENST00000460425.1 |
| exon_skip_49186 | 10 | 49687678:49687807:49763507:49763595:49790997:49791092 | 49763507:49763595 | ENSG00000128805.10 | ENST00000249601.4,ENST00000435790.2,ENST00000417912.2,ENST00000460425.1 |
| exon_skip_49187 | 10 | 49763507:49763595:49790997:49791197:49812807:49812997 | 49790997:49791197 | ENSG00000128805.10 | ENST00000417912.2 |
| exon_skip_49188 | 10 | 49763507:49763595:49790997:49791197:49860278:49860366 | 49790997:49791197 | ENSG00000128805.10 | ENST00000435790.2,ENST00000460425.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ARHGAP22 |
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 |
| ENST00000249601 | 49658303 | 49659183 | Frame-shift |
| ENST00000249601 | 49662130 | 49662204 | Frame-shift |
| ENST00000249601 | 49667726 | 49667934 | Frame-shift |
| ENST00000249601 | 49763507 | 49763595 | Frame-shift |
| ENST00000249601 | 49687678 | 49687807 | 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 |
| ENST00000249601 | 49658303 | 49659183 | Frame-shift |
| ENST00000249601 | 49662130 | 49662204 | Frame-shift |
| ENST00000249601 | 49667726 | 49667934 | Frame-shift |
| ENST00000249601 | 49763507 | 49763595 | Frame-shift |
| ENST00000249601 | 49687678 | 49687807 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARHGAP22 |
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 |
| ENST00000249601 | 2768 | 698 | 49687678 | 49687807 | 620 | 748 | 107 | 150 |
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 |
| ENST00000249601 | 2768 | 698 | 49687678 | 49687807 | 620 | 748 | 107 | 150 |
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 |
| Q7Z5H3 | 107 | 150 | 1 | 329 | Alternative sequence | ID=VSP_023703;Note=In isoform 4. MLSPKIRQARRARSKSLVMGEQSRSPGRMPCPHRLGPVLKAGWLKKQRSIMKNWQQRWFVLRGDQLFYYKDKDEIKPQGFISLQGTQVTELPPGPEDPGKHLFEISPGGAGEREKVPANPEALLLMASSQRDMEDWVQAIRRVIWAPLGGGIFGQRLEETVHHERKYGPRLAPLLVEQCVDFIRERGLTEEGLFRMPGQANLVRDLQDSFDCGEKPLFDSTT |
| Q7Z5H3 | 107 | 150 | 1 | 107 | Alternative sequence | ID=VSP_023704;Note=In isoform 3. MLSPKIRQARRARSKSLVMGEQSRSPGRMPCPHRLGPVLKAGWLKKQRSIMKNWQQRWFVLRGDQLFYYKDKDEIKPQGFISLQGTQVTELPPGPEDPGKHLFEISP->MPFWPIRCLKRSRRMPR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q7Z5H3 | 107 | 150 | 150 | 150 | Alternative sequence | ID=VSP_023705;Note=In isoform 2. G->GGTARRSHAHPLEPLPP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z5H3 | 107 | 150 | 1 | 698 | Chain | ID=PRO_0000280469;Note=Rho GTPase-activating protein 22 |
| Q7Z5H3 | 107 | 150 | 37 | 145 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
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 |
| Q7Z5H3 | 107 | 150 | 1 | 329 | Alternative sequence | ID=VSP_023703;Note=In isoform 4. MLSPKIRQARRARSKSLVMGEQSRSPGRMPCPHRLGPVLKAGWLKKQRSIMKNWQQRWFVLRGDQLFYYKDKDEIKPQGFISLQGTQVTELPPGPEDPGKHLFEISPGGAGEREKVPANPEALLLMASSQRDMEDWVQAIRRVIWAPLGGGIFGQRLEETVHHERKYGPRLAPLLVEQCVDFIRERGLTEEGLFRMPGQANLVRDLQDSFDCGEKPLFDSTT |
| Q7Z5H3 | 107 | 150 | 1 | 107 | Alternative sequence | ID=VSP_023704;Note=In isoform 3. MLSPKIRQARRARSKSLVMGEQSRSPGRMPCPHRLGPVLKAGWLKKQRSIMKNWQQRWFVLRGDQLFYYKDKDEIKPQGFISLQGTQVTELPPGPEDPGKHLFEISP->MPFWPIRCLKRSRRMPR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q7Z5H3 | 107 | 150 | 150 | 150 | Alternative sequence | ID=VSP_023705;Note=In isoform 2. G->GGTARRSHAHPLEPLPP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z5H3 | 107 | 150 | 1 | 698 | Chain | ID=PRO_0000280469;Note=Rho GTPase-activating protein 22 |
| Q7Z5H3 | 107 | 150 | 37 | 145 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
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SNVs in the skipped exons for ARHGAP22 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
ARHGAP22_LGG_exon_skip_49166_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 |
| LGG | TCGA-DU-6542-01 | exon_skip_49166 | 49658304 | 49659183 | 49658514 | 49658514 | Frame_Shift_Del | G | - | p.P553fs |
| UCEC | TCGA-D1-A177-01 | exon_skip_49166 | 49658304 | 49659183 | 49658838 | 49658838 | Frame_Shift_Del | C | - | p.G461fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_49166 | 49658304 | 49659183 | 49658875 | 49658875 | Frame_Shift_Del | G | - | p.R433fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_49166 | 49658304 | 49659183 | 49658886 | 49658886 | Frame_Shift_Del | T | - | p.K429fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_49166 | 49658304 | 49659183 | 49659175 | 49659175 | Frame_Shift_Del | G | - | p.L333fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_49166 | 49658304 | 49659183 | 49659175 | 49659175 | Frame_Shift_Del | G | - | p.L333fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_49169 exon_skip_49170 | 49662131 | 49662204 | 49662158 | 49662158 | Frame_Shift_Del | T | - | p.N280fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_49175 exon_skip_49174 exon_skip_49173 | 49667727 | 49667934 | 49667773 | 49667773 | Frame_Shift_Del | C | - | p.D205fs |
| LUAD | TCGA-86-8281-01 | exon_skip_49184 exon_skip_49183 exon_skip_49185 | 49687631 | 49687807 | 49687670 | 49687670 | Frame_Shift_Del | G | - | p.R30fs |
| BLCA | TCGA-BT-A42B-01 | exon_skip_49166 | 49658304 | 49659183 | 49658321 | 49658321 | Nonsense_Mutation | G | C | p.Y617* |
| THYM | TCGA-3G-AB0O-01 | exon_skip_49184 exon_skip_49183 exon_skip_49185 | 49687631 | 49687807 | 49687663 | 49687663 | Nonsense_Mutation | G | T | p.S156X |
| THYM | TCGA-XU-A933-01 | exon_skip_49187 exon_skip_49188 | 49790998 | 49791197 | 49791103 | 49791103 | Nonsense_Mutation | C | T | p.W49X |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
| C33A_CERVIX | 49667727 | 49667934 | 49667878 | 49667878 | Frame_Shift_Del | G | - | p.R170fs |
| SN12C_KIDNEY | 49667727 | 49667934 | 49667924 | 49667924 | Frame_Shift_Del | C | - | p.G154fs |
| RKO_LARGE_INTESTINE | 49667727 | 49667934 | 49667763 | 49667764 | Frame_Shift_Ins | - | C | p.D208fs |
| NCIH322_LUNG | 49658304 | 49659183 | 49658361 | 49658361 | Missense_Mutation | G | A | p.T604I |
| KATOIII_STOMACH | 49658304 | 49659183 | 49658394 | 49658394 | Missense_Mutation | G | A | p.A593V |
| NCIH661_LUNG | 49658304 | 49659183 | 49658532 | 49658532 | Missense_Mutation | C | A | p.W547L |
| SNU175_LARGE_INTESTINE | 49658304 | 49659183 | 49658572 | 49658572 | Missense_Mutation | C | T | p.A534T |
| HCT15_LARGE_INTESTINE | 49658304 | 49659183 | 49658575 | 49658575 | Missense_Mutation | G | A | p.R533C |
| ESS1_ENDOMETRIUM | 49658304 | 49659183 | 49658644 | 49658644 | Missense_Mutation | T | A | p.M510L |
| A2058_SKIN | 49658304 | 49659183 | 49658742 | 49658742 | Missense_Mutation | C | T | p.G477E |
| NCIH1435_LUNG | 49658304 | 49659183 | 49658773 | 49658773 | Missense_Mutation | A | T | p.S467T |
| GP2D_LARGE_INTESTINE | 49658304 | 49659183 | 49658883 | 49658883 | Missense_Mutation | G | A | p.S430F |
| GP5D_LARGE_INTESTINE | 49658304 | 49659183 | 49658883 | 49658883 | Missense_Mutation | G | A | p.S430F |
| HCT15_LARGE_INTESTINE | 49658304 | 49659183 | 49658919 | 49658919 | Missense_Mutation | G | T | p.P418H |
| NCIH727_LUNG | 49658304 | 49659183 | 49658932 | 49658932 | Missense_Mutation | T | G | p.S414R |
| HEY_OVARY | 49658304 | 49659183 | 49658955 | 49658955 | Missense_Mutation | C | A | p.R406I |
| HEYA8_OVARY | 49658304 | 49659183 | 49658955 | 49658955 | Missense_Mutation | C | A | p.R406I |
| TTC466_BONE | 49658304 | 49659183 | 49659022 | 49659022 | Missense_Mutation | C | G | p.G384R |
| SARC9371_BONE | 49658304 | 49659183 | 49659105 | 49659105 | Missense_Mutation | C | T | p.G356E |
| LCLC97TM1_LUNG | 49662131 | 49662204 | 49662165 | 49662165 | Missense_Mutation | G | C | p.Q278E |
| LS180_LARGE_INTESTINE | 49662131 | 49662204 | 49662176 | 49662176 | Missense_Mutation | C | T | p.S274N |
| PCI30_UPPER_AERODIGESTIVE_TRACT | 49667727 | 49667934 | 49667755 | 49667755 | Missense_Mutation | C | T | p.D211N |
| NCIN87_STOMACH | 49667727 | 49667934 | 49667796 | 49667796 | Missense_Mutation | G | A | p.P197L |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49667727 | 49667934 | 49667855 | 49667855 | Missense_Mutation | C | A | p.E177D |
| K2_SKIN | 49667727 | 49667934 | 49667891 | 49667892 | Missense_Mutation | CC | TT | p.R165Q |
| COLO794_SKIN | 49667727 | 49667934 | 49667902 | 49667902 | Missense_Mutation | G | A | p.H162Y |
| COLO800_SKIN | 49667727 | 49667934 | 49667902 | 49667902 | Missense_Mutation | G | A | p.H162Y |
| NCIH1793_LUNG | 49667727 | 49667934 | 49667919 | 49667919 | Missense_Mutation | C | A | p.R156L |
| SW1271_LUNG | 49687679 | 49687807 | 49687695 | 49687695 | Missense_Mutation | C | G | p.W145C |
| SW1271_LUNG | 49687631 | 49687807 | 49687695 | 49687695 | Missense_Mutation | C | G | p.W145C |
| SNU1040_LARGE_INTESTINE | 49687679 | 49687807 | 49687708 | 49687708 | Missense_Mutation | C | T | p.R141H |
| SNU1040_LARGE_INTESTINE | 49687631 | 49687807 | 49687708 | 49687708 | Missense_Mutation | C | T | p.R141H |
| CORL23_LUNG | 49763508 | 49763595 | 49763541 | 49763541 | Missense_Mutation | C | T | p.D97N |
| JIMT1_BREAST | 49763508 | 49763595 | 49763553 | 49763553 | Missense_Mutation | G | A | p.P93S |
| HCC2998_LARGE_INTESTINE | 49763508 | 49763595 | 49763591 | 49763591 | Missense_Mutation | A | C | p.F80C |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49790998 | 49791197 | 49791022 | 49791022 | Missense_Mutation | C | A | p.K70N |
| SW480_LARGE_INTESTINE | 49790998 | 49791197 | 49791044 | 49791044 | Missense_Mutation | C | T | p.G63E |
| SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49790998 | 49791197 | 49791062 | 49791062 | Missense_Mutation | C | T | p.R57H |
| NCIH1694_LUNG | 49790998 | 49791197 | 49791064 | 49791064 | Missense_Mutation | C | A | p.Q56H |
| NCIH1623_LUNG | 49790998 | 49791197 | 49791108 | 49791108 | Missense_Mutation | C | A | p.G42C |
| RKO_LARGE_INTESTINE | 49790998 | 49791197 | 49791131 | 49791131 | Missense_Mutation | C | T | p.R34K |
| NUGC3_STOMACH | 49790998 | 49791197 | 49791162 | 49791162 | Missense_Mutation | G | A | p.R24W |
| SNU1_STOMACH | 49790998 | 49791197 | 49791162 | 49791162 | Missense_Mutation | G | A | p.R24W |
| SNU719_STOMACH | 49790998 | 49791197 | 49791195 | 49791195 | Missense_Mutation | G | A | p.R13C |
| CW2_LARGE_INTESTINE | 49662131 | 49662204 | 49662183 | 49662183 | Nonsense_Mutation | G | A | p.Q272* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGAP22 |
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 ARHGAP22 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARHGAP22 |
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RelatedDrugs for ARHGAP22 |
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 ARHGAP22 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |