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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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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 | 20200313 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for ARHGAP44 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000006740
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000583608.1 | ARHGAP44-210:protein_coding:ARHGAP44 | 5.682690e+00 | 1.399613e+00 | 5.103813e-08 | 1.200459e-06 |
| CB | UP | ENST00000544416.6 | ARHGAP44-205:nonsense_mediated_decay:ARHGAP44 | 2.336354e+01 | 1.593730e+00 | 4.292664e-06 | 5.156533e-05 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ARHGAP44 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_112257 | chr17 | 12958717:12958897:12984531:12984908:12990032:12990477 | 12984531:12984908 |
| exon_skip_127173 | chr17 | 12944120:12944196:12949140:12949251:12949649:12949730 | 12949140:12949251 |
| exon_skip_131519 | chr17 | 12958723:12958897:12984531:12984908:12990032:12990584 | 12984531:12984908 |
| exon_skip_134941 | chr17 | 12952501:12952581:12955867:12955980:12956655:12956746 | 12955867:12955980 |
| exon_skip_152608 | chr17 | 12958717:12958897:12973302:12973319:12974089:12974310 | 12973302:12973319 |
| exon_skip_15412 | chr17 | 12928929:12929046:12941056:12941124:12943588:12943669 | 12941056:12941124 |
| exon_skip_162822 | chr17 | 12973302:12973319:12974089:12974310:12980058:12980233 | 12974089:12974310 |
| exon_skip_194947 | chr17 | 12958723:12958897:12974089:12974310:12980058:12980233 | 12974089:12974310 |
| exon_skip_210258 | chr17 | 12974089:12974310:12980058:12980233:12984531:12984908 | 12980058:12980233 |
| exon_skip_215920 | chr17 | 12958717:12958897:12984531:12984908:12990032:12990584 | 12984531:12984908 |
| exon_skip_229628 | chr17 | 12894940:12894979:12896407:12896511:12908897:12908973 | 12896407:12896511 |
| exon_skip_232712 | chr17 | 12919755:12919831:12941056:12941124:12943588:12943669 | 12941056:12941124 |
| exon_skip_235616 | chr17 | 12955881:12955980:12956655:12956746:12958717:12958897 | 12956655:12956746 |
| exon_skip_241956 | chr17 | 12980108:12980233:12984531:12984908:12990032:12990477 | 12984531:12984908 |
| exon_skip_263488 | chr17 | 12958717:12958897:12974089:12974310:12980058:12980233 | 12974089:12974310 |
| exon_skip_26744 | chr17 | 12984531:12984908:12987101:12987152:12990032:12990477 | 12987101:12987152 |
| exon_skip_296220 | chr17 | 12980108:12980233:12984531:12984908:12990032:12990584 | 12984531:12984908 |
| exon_skip_30587 | chr17 | 12984531:12984908:12987101:12987152:12990032:12990042 | 12987101:12987152 |
| exon_skip_31728 | chr17 | 12896495:12896511:12908897:12908973:12915900:12916011 | 12908897:12908973 |
| exon_skip_32391 | chr17 | 12980108:12980233:12984531:12984908:12987101:12987152 | 12984531:12984908 |
| exon_skip_46394 | chr17 | 12896407:12896511:12908897:12908973:12915900:12916011 | 12908897:12908973 |
| exon_skip_5025 | chr17 | 12958717:12958897:12974089:12974310:12980058:12980086 | 12974089:12974310 |
| exon_skip_50993 | chr17 | 12974180:12974310:12980058:12980233:12984531:12984908 | 12980058:12980233 |
| exon_skip_57645 | chr17 | 12941056:12941124:12943588:12943669:12944069:12944196 | 12943588:12943669 |
| exon_skip_6009 | chr17 | 12919755:12919831:12928929:12929046:12941056:12941124 | 12928929:12929046 |
| exon_skip_68836 | chr17 | 12789760:12789891:12894940:12894979:12896407:12896511 | 12894940:12894979 |
| exon_skip_70738 | chr17 | 12958723:12958897:12973302:12973319:12974089:12974310 | 12973302:12973319 |
| exon_skip_99579 | chr17 | 12984531:12984908:12987101:12987152:12990032:12990584 | 12987101:12987152 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_144361 | Mayo_CB | 6.937805e-01 | 8.545833e-01 | -1.608028e-01 | 7.846903e-09 |
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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 ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000379672 | 12908897 | 12908973 | Frame-shift |
| ENST00000379672 | 12928929 | 12929046 | Frame-shift |
| ENST00000379672 | 12980058 | 12980233 | Frame-shift |
| ENST00000379672 | 12973302 | 12973319 | In-frame |
| ENST00000379672 | 12974089 | 12974310 | In-frame |
| ENST00000379672 | 12984531 | 12984908 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000379672 | 12908897 | 12908973 | Frame-shift |
| ENST00000379672 | 12928929 | 12929046 | Frame-shift |
| ENST00000379672 | 12980058 | 12980233 | Frame-shift |
| ENST00000379672 | 12973302 | 12973319 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000379672 | 12908897 | 12908973 | Frame-shift |
| ENST00000379672 | 12928929 | 12929046 | Frame-shift |
| ENST00000379672 | 12943588 | 12943669 | Frame-shift |
| ENST00000379672 | 12949140 | 12949251 | Frame-shift |
| ENST00000379672 | 12956655 | 12956746 | Frame-shift |
| ENST00000379672 | 12980058 | 12980233 | Frame-shift |
| ENST00000379672 | 12896407 | 12896511 | In-frame |
| ENST00000379672 | 12941056 | 12941124 | In-frame |
| ENST00000379672 | 12955867 | 12955980 | In-frame |
| ENST00000379672 | 12973302 | 12973319 | In-frame |
| ENST00000379672 | 12984531 | 12984908 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARHGAP44 |
p-ENSG00000006740_img4.png |
| Loci of skipped exons in ROSMAP 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 | 12974089 | 12974310 | 1843 | 2063 | 514 | 587 |
| ENST00000379672 | 4245 | 818 | 12984531 | 12984908 | 2241 | 2617 | 647 | 772 |
| Loci of skipped exons in MSBB 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 Mayo 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 | 12896407 | 12896511 | 395 | 498 | 31 | 66 |
| ENST00000379672 | 4245 | 818 | 12941056 | 12941124 | 884 | 951 | 194 | 217 |
| ENST00000379672 | 4245 | 818 | 12955867 | 12955980 | 1438 | 1550 | 379 | 416 |
| ENST00000379672 | 4245 | 818 | 12984531 | 12984908 | 2241 | 2617 | 647 | 772 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 | 514 | 587 | 509 | 514 | Alternative sequence | ID=VSP_053616;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005;Dbxref=PMID:14702039,PMID:15489334,PMID:17974005 |
| Q17R89 | 514 | 587 | 1 | 818 | Chain | ID=PRO_0000280480;Note=Rho GTPase-activating protein 44 |
| Q17R89 | 514 | 587 | 518 | 518 | Sequence conflict | Note=R->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q17R89 | 647 | 772 | 1 | 818 | Chain | ID=PRO_0000280480;Note=Rho GTPase-activating protein 44 |
| Q17R89 | 647 | 772 | 731 | 818 | Region | Note=Interaction with BST2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19273615;Dbxref=PMID:19273615 |
| Q17R89 | 647 | 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 MSBB. |
| 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 Mayo. |
| 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 | 31 | 66 | 1 | 818 | Chain | ID=PRO_0000280480;Note=Rho GTPase-activating protein 44 |
| Q17R89 | 31 | 66 | 14 | 249 | Domain | Note=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361 |
| Q17R89 | 194 | 217 | 1 | 818 | Chain | ID=PRO_0000280480;Note=Rho GTPase-activating protein 44 |
| Q17R89 | 194 | 217 | 14 | 249 | Domain | Note=BAR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00361 |
| Q17R89 | 379 | 416 | 1 | 818 | Chain | ID=PRO_0000280480;Note=Rho GTPase-activating protein 44 |
| Q17R89 | 379 | 416 | 255 | 445 | Domain | Note=Rho-GAP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00172 |
| Q17R89 | 647 | 772 | 1 | 818 | Chain | ID=PRO_0000280480;Note=Rho GTPase-activating protein 44 |
| Q17R89 | 647 | 772 | 731 | 818 | Region | Note=Interaction with BST2;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19273615;Dbxref=PMID:19273615 |
| Q17R89 | 647 | 772 | 674 | 674 | Sequence conflict | Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ARHGAP44 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for ARHGAP44 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for ARHGAP44 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGAP44 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_127173 | rs2072255 | chr17:12949075 | 1.632849e-06 | 5.433762e-04 |
| CB | exon_skip_127173 | rs8078472 | chr17:12970070 | 2.708371e-04 | 3.780426e-02 |
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Correlation with RNA binding proteins (RBPs) for ARHGAP44 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM4 | exon_skip_127173 | -4.807282e-01 | 2.438773e-10 |
| CB | RBM6 | exon_skip_210258 | -4.932420e-01 | 4.571475e-11 |
| CB | ELAVL1 | exon_skip_241956 | -4.274662e-01 | 2.355097e-08 |
| CB | SAMD4A | exon_skip_241956 | -5.377815e-01 | 3.792421e-13 |
| CB | CNOT4 | exon_skip_241956 | -5.582148e-01 | 3.060870e-14 |
| CB | MATR3 | exon_skip_241956 | -4.591696e-01 | 1.461264e-09 |
| CB | PCBP1 | exon_skip_241956 | -4.542361e-01 | 2.295141e-09 |
| CB | PCBP4 | exon_skip_241956 | 5.930216e-01 | 2.766959e-16 |
| CB | TRA2A | exon_skip_241956 | -6.026314e-01 | 6.814005e-17 |
| CB | RC3H1 | exon_skip_241956 | -4.501270e-01 | 3.324754e-09 |
| CB | HNRNPA2B1 | exon_skip_241956 | -5.391739e-01 | 3.211838e-13 |
| CB | EIF4G2 | exon_skip_241956 | -4.156768e-01 | 6.169985e-08 |
| CB | RBM23 | exon_skip_241956 | -4.015433e-01 | 1.866446e-07 |
| CB | HNRNPF | exon_skip_241956 | -4.631530e-01 | 1.009519e-09 |
| CB | DAZAP1 | exon_skip_144361 | -5.037805e-01 | 2.737520e-11 |
| CB | TARDBP | exon_skip_144361 | -5.519036e-01 | 1.180784e-13 |
| CB | ELAVL1 | exon_skip_144361 | -4.169818e-01 | 7.468005e-08 |
| CB | ZNF638 | exon_skip_144361 | -5.303103e-01 | 1.512589e-12 |
| CB | SAMD4A | exon_skip_144361 | -5.316721e-01 | 1.294718e-12 |
| CB | U2AF2 | exon_skip_144361 | -6.252543e-01 | 4.405173e-18 |
| CB | CNOT4 | exon_skip_144361 | -5.517932e-01 | 1.196848e-13 |
| CB | MATR3 | exon_skip_144361 | -4.310606e-01 | 2.394428e-08 |
| CB | PCBP1 | exon_skip_144361 | -4.258731e-01 | 3.663109e-08 |
| CB | PCBP4 | exon_skip_144361 | 5.858538e-01 | 1.448621e-15 |
| CB | TRA2A | exon_skip_144361 | -6.062878e-01 | 7.926285e-17 |
| CB | RC3H1 | exon_skip_144361 | -4.289515e-01 | 2.848714e-08 |
| CB | SNRPA | exon_skip_144361 | -4.443970e-01 | 7.762919e-09 |
| CB | FUBP1 | exon_skip_144361 | -5.527616e-01 | 1.062933e-13 |
| CB | KHSRP | exon_skip_144361 | -4.060355e-01 | 1.745730e-07 |
| CB | HNRNPA2B1 | exon_skip_144361 | -5.122779e-01 | 1.112519e-11 |
| CB | RBM45 | exon_skip_144361 | 6.200642e-01 | 9.905840e-18 |
| CB | HNRNPC | exon_skip_144361 | -5.270200e-01 | 2.196214e-12 |
| CB | NUP42 | exon_skip_144361 | 4.449993e-01 | 7.369383e-09 |
| CB | PTBP1 | exon_skip_144361 | -5.296919e-01 | 1.622908e-12 |
| CB | SRSF1 | exon_skip_144361 | -4.038293e-01 | 2.064043e-07 |
| CB | SRSF4 | exon_skip_144361 | -5.392704e-01 | 5.366702e-13 |
| CB | HNRNPF | exon_skip_144361 | -4.448358e-01 | 7.474297e-09 |
| CB | RBM4 | exon_skip_144361 | -6.780259e-01 | 4.517425e-22 |
| CB | RBM4B | exon_skip_144361 | -4.823309e-01 | 2.387289e-10 |
| CB | RBM3 | exon_skip_26744 | 4.924573e-01 | 4.958175e-11 |
| DLPFC | SRSF2 | exon_skip_99579 | 4.041079e-01 | 1.728230e-13 |
| DLPFC | RBM3 | exon_skip_99579 | 4.686140e-01 | 3.649093e-18 |
| HCC | RBM6 | exon_skip_70738 | -4.128250e-01 | 6.479274e-12 |
| IFG | DAZAP1 | exon_skip_152608 | -6.302637e-01 | 1.266109e-03 |
| IFG | RBM6 | exon_skip_152608 | -5.283499e-01 | 9.551450e-03 |
| IFG | IGF2BP3 | exon_skip_152608 | -4.413297e-01 | 3.502042e-02 |
| TC | ESRP1 | exon_skip_30587 | 4.222768e-01 | 2.952337e-08 |
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RelatedDrugs for ARHGAP44 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| 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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