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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 ARHGAP44 |
 Gene summary |
| Gene information | Gene symbol | ARHGAP44 | Gene ID | 9912 |
| Gene name | Rho GTPase activating protein 44 | |
| Synonyms | NPC-A-10|RICH2 | |
| Cytomap | 17p12 | |
| Type of gene | protein-coding | |
| Description | rho GTPase-activating protein 44Rho-type GTPase-activating protein RICH2RhoGAP interacting with CIP4 homologs protein 2rho GTPase-activating protein RICH2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q17R89 | |
| Context | PubMed: ARHGAP44 [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 ARHGAP44 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 ARHGAP44 |
| 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 ARHGAP44 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_149215 | 17 | 12799723:12799828:12812213:12812290:12819216:12819328 | 12812213:12812290 | ENSG00000006740.12 | ENST00000544416.2,ENST00000262444.9,ENST00000578442.1,ENST00000340825.3,ENST00000580768.1,ENST00000379672.5 |
| exon_skip_149216 | 17 | 12823071:12823148:12832245:12832363:12844372:12844441 | 12832245:12832363 | ENSG00000006740.12 | ENST00000544416.2,ENST00000262444.9,ENST00000340825.3,ENST00000379672.5 |
| exon_skip_149217 | 17 | 12847385:12847513:12852456:12852568:12852965:12853047 | 12852456:12852568 | ENSG00000006740.12 | ENST00000544416.2,ENST00000262444.9,ENST00000340825.3,ENST00000580768.1,ENST00000379672.5 |
| exon_skip_149218 | 17 | 12862033:12862214:12876618:12876636:12877405:12877627 | 12876618:12876636 | ENSG00000006740.12 | ENST00000262444.9,ENST00000583608.1,ENST00000379672.5 |
| exon_skip_149220 | 17 | 12862033:12862214:12877405:12877627:12883374:12883550 | 12877405:12877627 | ENSG00000006740.12 | ENST00000340825.3,ENST00000580768.1 |
| exon_skip_149227 | 17 | 12877405:12877627:12883374:12883550:12887847:12888225 | 12883374:12883550 | ENSG00000006740.12 | ENST00000262444.9,ENST00000340825.3,ENST00000580768.1,ENST00000379672.5 |
| exon_skip_149230 | 17 | 12883424:12883550:12887847:12888225:12893348:12893901 | 12887847:12888225 | ENSG00000006740.12 | ENST00000340825.3,ENST00000379672.5 |
| exon_skip_149231 | 17 | 12887847:12888225:12890417:12890469:12893348:12893901 | 12890417:12890469 | ENSG00000006740.12 | ENST00000262444.9,ENST00000580768.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARHGAP44 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_149215 | 17 | 12799723:12799828:12812213:12812290:12819216:12819328 | 12812213:12812290 | ENSG00000006740.12 | ENST00000379672.5,ENST00000340825.3,ENST00000580768.1,ENST00000262444.9,ENST00000544416.2,ENST00000578442.1 |
| exon_skip_149216 | 17 | 12823071:12823148:12832245:12832363:12844372:12844441 | 12832245:12832363 | ENSG00000006740.12 | ENST00000379672.5,ENST00000340825.3,ENST00000262444.9,ENST00000544416.2 |
| exon_skip_149217 | 17 | 12847385:12847513:12852456:12852568:12852965:12853047 | 12852456:12852568 | ENSG00000006740.12 | ENST00000379672.5,ENST00000340825.3,ENST00000580768.1,ENST00000262444.9,ENST00000544416.2 |
| exon_skip_149218 | 17 | 12862033:12862214:12876618:12876636:12877405:12877627 | 12876618:12876636 | ENSG00000006740.12 | ENST00000379672.5,ENST00000262444.9,ENST00000583608.1 |
| exon_skip_149220 | 17 | 12862033:12862214:12877405:12877627:12883374:12883550 | 12877405:12877627 | ENSG00000006740.12 | ENST00000340825.3,ENST00000580768.1 |
| exon_skip_149226 | 17 | 12862033:12862214:12887847:12888225:12893348:12893901 | 12887847:12888225 | ENSG00000006740.12 | ENST00000544416.2 |
| exon_skip_149227 | 17 | 12877405:12877627:12883374:12883550:12887847:12888225 | 12883374:12883550 | ENSG00000006740.12 | ENST00000379672.5,ENST00000340825.3,ENST00000580768.1,ENST00000262444.9 |
| exon_skip_149230 | 17 | 12883424:12883550:12887847:12888225:12893348:12893901 | 12887847:12888225 | ENSG00000006740.12 | ENST00000379672.5,ENST00000340825.3 |
| exon_skip_149231 | 17 | 12887847:12888225:12890417:12890469:12893348:12893901 | 12890417:12890469 | ENSG00000006740.12 | ENST00000580768.1,ENST00000262444.9 |
| 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 ARHGAP44 |
| 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 |
| ENST00000379672 | 12812213 | 12812290 | Frame-shift |
| ENST00000379672 | 12832245 | 12832363 | Frame-shift |
| ENST00000379672 | 12852456 | 12852568 | Frame-shift |
| ENST00000379672 | 12883374 | 12883550 | Frame-shift |
| ENST00000379672 | 12876618 | 12876636 | In-frame |
| ENST00000379672 | 12887847 | 12888225 | 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 |
| ENST00000379672 | 12812213 | 12812290 | Frame-shift |
| ENST00000379672 | 12832245 | 12832363 | Frame-shift |
| ENST00000379672 | 12852456 | 12852568 | Frame-shift |
| ENST00000379672 | 12883374 | 12883550 | Frame-shift |
| ENST00000379672 | 12876618 | 12876636 | In-frame |
| ENST00000379672 | 12887847 | 12888225 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARHGAP44 |
| 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 |
| ENST00000379672 | 4245 | 818 | 12887847 | 12888225 | 2240 | 2617 | 646 | 772 |
| 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 |
| ENST00000379672 | 4245 | 818 | 12887847 | 12888225 | 2240 | 2617 | 646 | 772 |
| 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 |
| Q17R89 | 646 | 772 | 1 | 818 | Chain | ID=PRO_0000280480;Note=Rho GTPase-activating protein 44 |
| Q17R89 | 646 | 772 | 731 | 818 | Region | Note=Interaction with BST2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19273615;Dbxref=PMID:19273615 |
| Q17R89 | 646 | 772 | 674 | 674 | Sequence conflict | Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q17R89 | 646 | 772 | 1 | 818 | Chain | ID=PRO_0000280480;Note=Rho GTPase-activating protein 44 |
| Q17R89 | 646 | 772 | 731 | 818 | Region | Note=Interaction with BST2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19273615;Dbxref=PMID:19273615 |
| Q17R89 | 646 | 772 | 674 | 674 | Sequence conflict | Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for ARHGAP44 |
| - 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_149215 | 12812214 | 12812290 | 12812270 | 12812270 | Frame_Shift_Del | G | - | p.L85fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_149220 | 12877406 | 12877627 | 12877457 | 12877457 | Frame_Shift_Del | G | - | p.S531fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_149220 | 12877406 | 12877627 | 12877461 | 12877461 | Frame_Shift_Del | G | - | p.G533fs |
| LGG | TCGA-E1-A7YW-01 | exon_skip_149220 | 12877406 | 12877627 | 12877480 | 12877480 | Frame_Shift_Del | C | - | p.A539fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_149227 | 12883375 | 12883550 | 12883461 | 12883461 | Frame_Shift_Del | A | - | p.Q617fs |
| BLCA | TCGA-BT-A3PK-01 | exon_skip_149230 | 12887848 | 12888225 | 12888211 | 12888211 | Frame_Shift_Del | A | - | p.E768fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_149217 | 12852457 | 12852568 | 12852494 | 12852495 | Frame_Shift_Ins | - | G | p.K301fs |
| CHOL | TCGA-ZH-A8Y8-01 | exon_skip_149217 | 12852457 | 12852568 | 12852466 | 12852466 | Nonsense_Mutation | C | T | p.R291X |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_149230 | 12887848 | 12888225 | 12888105 | 12888105 | Nonsense_Mutation | C | T | p.R733* |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 12832246 | 12832363 | 12832275 | 12832276 | Frame_Shift_Del | TG | - | p.L165fs |
| HCT116_LARGE_INTESTINE | 12832246 | 12832363 | 12832297 | 12832297 | Frame_Shift_Del | G | - | p.A172fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 12832246 | 12832363 | 12832272 | 12832273 | Frame_Shift_Ins | - | GC | p.GL164fs |
| TOV21G_OVARY | 12887848 | 12888225 | 12888180 | 12888181 | Frame_Shift_Ins | - | C | p.A758fs |
| EW24_BONE | 12812214 | 12812290 | 12812223 | 12812223 | Missense_Mutation | C | T | p.P70S |
| HEC251_ENDOMETRIUM | 12812214 | 12812290 | 12812275 | 12812275 | Missense_Mutation | A | G | p.D87G |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12832246 | 12832363 | 12832281 | 12832281 | Missense_Mutation | G | A | p.S167N |
| HCT15_LARGE_INTESTINE | 12832246 | 12832363 | 12832284 | 12832284 | Missense_Mutation | G | T | p.S168I |
| LS411N_LARGE_INTESTINE | 12832246 | 12832363 | 12832304 | 12832304 | Missense_Mutation | A | G | p.K175E |
| MZ2MEL_SKIN | 12832246 | 12832363 | 12832331 | 12832331 | Missense_Mutation | G | A | p.E184K |
| DU145_PROSTATE | 12832246 | 12832363 | 12832359 | 12832359 | Missense_Mutation | G | A | p.C193Y |
| SISO_CERVIX | 12852457 | 12852568 | 12852476 | 12852476 | Missense_Mutation | C | T | p.P294L |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12852457 | 12852568 | 12852476 | 12852476 | Missense_Mutation | C | T | p.P294L |
| TE11_OESOPHAGUS | 12852457 | 12852568 | 12852488 | 12852488 | Missense_Mutation | A | G | p.K298R |
| WM793_SKIN | 12852457 | 12852568 | 12852495 | 12852495 | Missense_Mutation | G | C | p.K300N |
| CW2_LARGE_INTESTINE | 12852457 | 12852568 | 12852506 | 12852506 | Missense_Mutation | C | T | p.A304V |
| KYSE30_OESOPHAGUS | 12852457 | 12852568 | 12852529 | 12852529 | Missense_Mutation | G | A | p.D312N |
| SNU1040_LARGE_INTESTINE | 12877406 | 12877627 | 12877425 | 12877425 | Missense_Mutation | G | A | p.D521N |
| 647V_URINARY_TRACT | 12877406 | 12877627 | 12877497 | 12877497 | Missense_Mutation | C | A | p.P545T |
| SNU1040_LARGE_INTESTINE | 12877406 | 12877627 | 12877539 | 12877539 | Missense_Mutation | C | T | p.P559S |
| CCK81_LARGE_INTESTINE | 12877406 | 12877627 | 12877569 | 12877569 | Missense_Mutation | G | A | p.A569T |
| SW684_SOFT_TISSUE | 12883375 | 12883550 | 12883391 | 12883391 | Missense_Mutation | G | A | p.E594K |
| CHLA9_BONE | 12883375 | 12883550 | 12883439 | 12883439 | Missense_Mutation | G | A | p.G610S |
| NCIH2110_LUNG | 12883375 | 12883550 | 12883493 | 12883493 | Missense_Mutation | G | C | p.A628P |
| SNU1040_LARGE_INTESTINE | 12887848 | 12888225 | 12887866 | 12887866 | Missense_Mutation | C | T | p.P653L |
| NCIH1373_LUNG | 12887848 | 12888225 | 12887958 | 12887958 | Missense_Mutation | C | A | p.P684T |
| HT144_SKIN | 12887848 | 12888225 | 12888025 | 12888025 | Missense_Mutation | C | T | p.S706F |
| SNU503_LARGE_INTESTINE | 12887848 | 12888225 | 12888112 | 12888112 | Missense_Mutation | G | T | p.R735I |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12887848 | 12888225 | 12888169 | 12888169 | Missense_Mutation | A | T | p.Q754L |
| SNU61_LARGE_INTESTINE | 12887848 | 12888225 | 12888200 | 12888200 | Missense_Mutation | G | T | p.M764I |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12887848 | 12888225 | 12888201 | 12888201 | Missense_Mutation | T | C | p.S765P |
| LS411N_LARGE_INTESTINE | 12887848 | 12888225 | 12888207 | 12888207 | Missense_Mutation | G | A | p.G767R |
| U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12832246 | 12832363 | 12832325 | 12832325 | Nonsense_Mutation | G | T | p.E182* |
| TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 12832246 | 12832363 | 12832325 | 12832325 | Nonsense_Mutation | G | T | p.E182* |
| NCIH1339_LUNG | 12883375 | 12883550 | 12883412 | 12883412 | Nonsense_Mutation | C | T | p.Q601* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGAP44 |
| 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 ARHGAP44 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARHGAP44 |
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RelatedDrugs for ARHGAP44 |
| 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 ARHGAP44 |
| 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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