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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 CHN2 |
 Gene summary |
| Gene information | Gene symbol | CHN2 | Gene ID | 1124 |
| Gene name | chimerin 2 | |
| Synonyms | ARHGAP3|BCH|CHN2-3|RHOGAP3 | |
| Cytomap | 7p14.3 | |
| Type of gene | protein-coding | |
| Description | beta-chimaerinbeta-chimerinbeta3-chimaerinchimerin (chimaerin) 2chimerin, beta-2chimerin, testis-specificrho-GTPase-activating protein 3 | |
| Modification date | 20180519 | |
| UniProtAcc | P52757 | |
| Context | PubMed: CHN2 [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 CHN2 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 CHN2 |
| 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 CHN2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_465042 | 7 | 29186247:29186361:29186464:29186576:29394240:29394279 | 29186464:29186576 | ENSG00000106069.16 | ENST00000439384.1,ENST00000539406.1 |
| exon_skip_465046 | 7 | 29234557:29234606:29332540:29332579:29394240:29394279 | 29332540:29332579 | ENSG00000106069.16 | ENST00000409350.1,ENST00000495789.2 |
| exon_skip_465047 | 7 | 29234557:29234606:29394240:29394279:29407547:29407587 | 29394240:29394279 | ENSG00000106069.16 | ENST00000435288.2,ENST00000539389.1,ENST00000222792.6 |
| exon_skip_465051 | 7 | 29394240:29394279:29407547:29407603:29433294:29433326 | 29407547:29407603 | ENSG00000106069.16 | ENST00000409964.2,ENST00000474070.1,ENST00000439384.1,ENST00000435288.2,ENST00000412536.1,ENST00000409350.1,ENST00000495789.2,ENST00000539406.1,ENST00000222792.6,ENST00000409922.1,ENST00000546235.1 |
| exon_skip_465057 | 7 | 29407547:29407603:29420346:29420423:29433294:29433326 | 29420346:29420423 | ENSG00000106069.16 | ENST00000478128.2 |
| exon_skip_465058 | 7 | 29407547:29407603:29433294:29433326:29437988:29438101 | 29433294:29433326 | ENSG00000106069.16 | ENST00000409964.2,ENST00000474070.1,ENST00000439384.1,ENST00000435288.2,ENST00000412536.1,ENST00000409350.1,ENST00000495789.2,ENST00000539406.1,ENST00000222792.6,ENST00000409922.1,ENST00000546235.1 |
| exon_skip_465060 | 7 | 29415950:29416075:29420346:29420423:29433294:29433326 | 29420346:29420423 | ENSG00000106069.16 | ENST00000482820.2 |
| exon_skip_465062 | 7 | 29433294:29433326:29437988:29438102:29440158:29440206 | 29437988:29438102 | ENSG00000106069.16 | ENST00000409964.2,ENST00000474070.1,ENST00000439384.1,ENST00000478128.2,ENST00000409350.1,ENST00000495789.2,ENST00000539406.1,ENST00000222792.6,ENST00000409922.1,ENST00000546235.1 |
| exon_skip_465063 | 7 | 29437988:29438102:29439856:29439967:29440158:29440206 | 29439856:29439967 | ENSG00000106069.16 | ENST00000412536.1 |
| exon_skip_465065 | 7 | 29437988:29438102:29440158:29440444:29519894:29519972 | 29440158:29440444 | ENSG00000106069.16 | ENST00000474070.1,ENST00000495789.2,ENST00000539406.1,ENST00000222792.6,ENST00000546235.1 |
| exon_skip_465066 | 7 | 29440315:29440444:29519894:29519972:29535567:29535652 | 29519894:29519972 | ENSG00000106069.16 | ENST00000495789.2,ENST00000539406.1,ENST00000222792.6,ENST00000546235.1 |
| exon_skip_465067 | 7 | 29519668:29519837:29535567:29535652:29539482:29539656 | 29535567:29535652 | ENSG00000106069.16 | ENST00000424025.2,ENST00000467441.1 |
| exon_skip_465068 | 7 | 29535567:29535652:29539482:29539656:29544359:29544436 | 29539482:29539656 | ENSG00000106069.16 | ENST00000424025.2,ENST00000412711.2,ENST00000467441.1,ENST00000446446.1,ENST00000410098.1,ENST00000539389.1,ENST00000439711.2,ENST00000409041.4,ENST00000493906.1,ENST00000495789.2,ENST00000539406.1,ENST00000222792.6,ENST00000546235.1 |
| exon_skip_465069 | 7 | 29544410:29544437:29546843:29546981:29548916:29549022 | 29546843:29546981 | ENSG00000106069.16 | ENST00000424025.2,ENST00000412711.2,ENST00000421775.2,ENST00000410098.1,ENST00000539389.1,ENST00000409041.4,ENST00000495789.2,ENST00000539406.1,ENST00000222792.6,ENST00000433720.1,ENST00000546235.1 |
| exon_skip_465072 | 7 | 29546843:29546981:29548916:29549022:29552179:29552351 | 29548916:29549022 | ENSG00000106069.16 | ENST00000424025.2,ENST00000412711.2,ENST00000421775.2,ENST00000410098.1,ENST00000539389.1,ENST00000409041.4,ENST00000495789.2,ENST00000539406.1,ENST00000222792.6,ENST00000546235.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CHN2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_465041 | 7 | 29165944:29166242:29166471:29166555:29167629:29167766 | 29166471:29166555 | ENSG00000106069.16 | ENST00000606897.1 |
| exon_skip_465042 | 7 | 29186247:29186361:29186464:29186576:29394240:29394279 | 29186464:29186576 | ENSG00000106069.16 | ENST00000439384.1,ENST00000539406.1 |
| exon_skip_465046 | 7 | 29234557:29234606:29332540:29332579:29394240:29394279 | 29332540:29332579 | ENSG00000106069.16 | ENST00000409350.1,ENST00000495789.2 |
| exon_skip_465047 | 7 | 29234557:29234606:29394240:29394279:29407547:29407587 | 29394240:29394279 | ENSG00000106069.16 | ENST00000222792.6,ENST00000435288.2,ENST00000539389.1 |
| exon_skip_465051 | 7 | 29394240:29394279:29407547:29407603:29433294:29433326 | 29407547:29407603 | ENSG00000106069.16 | ENST00000439384.1,ENST00000539406.1,ENST00000474070.1,ENST00000222792.6,ENST00000435288.2,ENST00000409350.1,ENST00000495789.2,ENST00000546235.1,ENST00000409964.2,ENST00000409922.1,ENST00000412536.1 |
| exon_skip_465057 | 7 | 29407547:29407603:29420346:29420423:29433294:29433326 | 29420346:29420423 | ENSG00000106069.16 | ENST00000478128.2 |
| exon_skip_465058 | 7 | 29407547:29407603:29433294:29433326:29437988:29438101 | 29433294:29433326 | ENSG00000106069.16 | ENST00000439384.1,ENST00000539406.1,ENST00000474070.1,ENST00000222792.6,ENST00000435288.2,ENST00000409350.1,ENST00000495789.2,ENST00000546235.1,ENST00000409964.2,ENST00000409922.1,ENST00000412536.1 |
| exon_skip_465062 | 7 | 29433294:29433326:29437988:29438102:29440158:29440206 | 29437988:29438102 | ENSG00000106069.16 | ENST00000439384.1,ENST00000539406.1,ENST00000474070.1,ENST00000222792.6,ENST00000409350.1,ENST00000495789.2,ENST00000546235.1,ENST00000409964.2,ENST00000409922.1,ENST00000478128.2 |
| exon_skip_465063 | 7 | 29437988:29438102:29439856:29439967:29440158:29440206 | 29439856:29439967 | ENSG00000106069.16 | ENST00000412536.1 |
| exon_skip_465065 | 7 | 29437988:29438102:29440158:29440444:29519894:29519972 | 29440158:29440444 | ENSG00000106069.16 | ENST00000539406.1,ENST00000474070.1,ENST00000222792.6,ENST00000495789.2,ENST00000546235.1 |
| exon_skip_465066 | 7 | 29440315:29440444:29519894:29519972:29535567:29535652 | 29519894:29519972 | ENSG00000106069.16 | ENST00000539406.1,ENST00000222792.6,ENST00000495789.2,ENST00000546235.1 |
| exon_skip_465068 | 7 | 29535567:29535652:29539482:29539656:29544359:29544436 | 29539482:29539656 | ENSG00000106069.16 | ENST00000539406.1,ENST00000222792.6,ENST00000495789.2,ENST00000539389.1,ENST00000546235.1,ENST00000446446.1,ENST00000412711.2,ENST00000409041.4,ENST00000467441.1,ENST00000493906.1,ENST00000424025.2,ENST00000439711.2,ENST00000410098.1 |
| exon_skip_465069 | 7 | 29544410:29544437:29546843:29546981:29548916:29549022 | 29546843:29546981 | ENSG00000106069.16 | ENST00000539406.1,ENST00000222792.6,ENST00000495789.2,ENST00000539389.1,ENST00000546235.1,ENST00000412711.2,ENST00000409041.4,ENST00000424025.2,ENST00000421775.2,ENST00000410098.1,ENST00000433720.1 |
| exon_skip_465071 | 7 | 29544410:29544437:29548916:29549022:29552179:29552351 | 29548916:29549022 | ENSG00000106069.16 | ENST00000439711.2 |
| exon_skip_465072 | 7 | 29546843:29546981:29548916:29549022:29552179:29552351 | 29548916:29549022 | ENSG00000106069.16 | ENST00000539406.1,ENST00000222792.6,ENST00000495789.2,ENST00000539389.1,ENST00000546235.1,ENST00000412711.2,ENST00000409041.4,ENST00000424025.2,ENST00000421775.2,ENST00000410098.1 |
| 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 CHN2 |
| 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 |
| ENST00000222792 | 29407547 | 29407603 | Frame-shift |
| ENST00000222792 | 29433294 | 29433326 | Frame-shift |
| ENST00000222792 | 29440158 | 29440444 | Frame-shift |
| ENST00000222792 | 29548916 | 29549022 | Frame-shift |
| ENST00000222792 | 29394240 | 29394279 | In-frame |
| ENST00000222792 | 29437988 | 29438102 | In-frame |
| ENST00000222792 | 29519894 | 29519972 | In-frame |
| ENST00000222792 | 29539482 | 29539656 | In-frame |
| ENST00000222792 | 29546843 | 29546981 | 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 |
| ENST00000222792 | 29407547 | 29407603 | Frame-shift |
| ENST00000222792 | 29433294 | 29433326 | Frame-shift |
| ENST00000222792 | 29440158 | 29440444 | Frame-shift |
| ENST00000222792 | 29548916 | 29549022 | Frame-shift |
| ENST00000222792 | 29394240 | 29394279 | In-frame |
| ENST00000222792 | 29437988 | 29438102 | In-frame |
| ENST00000222792 | 29519894 | 29519972 | In-frame |
| ENST00000222792 | 29539482 | 29539656 | In-frame |
| ENST00000222792 | 29546843 | 29546981 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CHN2 |
| 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 |
| ENST00000222792 | 3547 | 468 | 29394240 | 29394279 | 580 | 618 | 16 | 29 |
| ENST00000222792 | 3547 | 468 | 29437988 | 29438102 | 707 | 820 | 59 | 96 |
| ENST00000222792 | 3547 | 468 | 29519894 | 29519972 | 1107 | 1184 | 192 | 218 |
| ENST00000222792 | 3547 | 468 | 29539482 | 29539656 | 1270 | 1443 | 246 | 304 |
| ENST00000222792 | 3547 | 468 | 29546843 | 29546981 | 1522 | 1659 | 330 | 376 |
| 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 |
| ENST00000222792 | 3547 | 468 | 29394240 | 29394279 | 580 | 618 | 16 | 29 |
| ENST00000222792 | 3547 | 468 | 29437988 | 29438102 | 707 | 820 | 59 | 96 |
| ENST00000222792 | 3547 | 468 | 29519894 | 29519972 | 1107 | 1184 | 192 | 218 |
| ENST00000222792 | 3547 | 468 | 29539482 | 29539656 | 1270 | 1443 | 246 | 304 |
| ENST00000222792 | 3547 | 468 | 29546843 | 29546981 | 1522 | 1659 | 330 | 376 |
| 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 CHN2 |
| - 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_465042 | 29186465 | 29186576 | 29186527 | 29186527 | Frame_Shift_Del | A | - | p.L75fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_465065 | 29440159 | 29440444 | 29440208 | 29440208 | Frame_Shift_Del | T | - | p.F114fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_465065 | 29440159 | 29440444 | 29440303 | 29440303 | Frame_Shift_Del | A | - | p.S145fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_465065 | 29440159 | 29440444 | 29440359 | 29440359 | Frame_Shift_Del | A | - | p.E164fs |
| STAD | TCGA-BR-8361-01 | exon_skip_465069 | 29546844 | 29546981 | 29546850 | 29546850 | Frame_Shift_Del | A | - | p.E333fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_465072 | 29548917 | 29549022 | 29549018 | 29549018 | Frame_Shift_Del | A | - | p.K412fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_465068 | 29539483 | 29539656 | 29539523 | 29539524 | Frame_Shift_Ins | - | C | p.Q261fs |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_465058 | 29433295 | 29433326 | 29433323 | 29433323 | Nonsense_Mutation | G | T | p.E42* |
| BLCA | TCGA-ZF-AA51-01 | exon_skip_465065 | 29440159 | 29440444 | 29440302 | 29440302 | Nonsense_Mutation | C | G | p.S145* |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_465066 | 29519895 | 29519972 | 29519910 | 29519910 | Nonsense_Mutation | C | T | p.R198* |
| - 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 |
| SW684_SOFT_TISSUE | 29433295 | 29433326 | 29433320 | 29433320 | Missense_Mutation | G | A | p.G57E |
| DU145_PROSTATE | 29437989 | 29438102 | 29437997 | 29437997 | Missense_Mutation | G | T | p.G62V |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29437989 | 29438102 | 29438047 | 29438047 | Missense_Mutation | G | A | p.A79T |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 29437989 | 29438102 | 29438077 | 29438077 | Missense_Mutation | C | G | p.P89A |
| DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29437989 | 29438102 | 29438090 | 29438090 | Missense_Mutation | C | T | p.T93M |
| CHAGOK1_LUNG | 29440159 | 29440444 | 29440253 | 29440253 | Missense_Mutation | G | C | p.D129H |
| HEC108_ENDOMETRIUM | 29440159 | 29440444 | 29440346 | 29440346 | Missense_Mutation | A | G | p.T160A |
| RPMI6666_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29440159 | 29440444 | 29440365 | 29440365 | Missense_Mutation | T | C | p.V166A |
| NCIH1648_LUNG | 29440159 | 29440444 | 29440371 | 29440371 | Missense_Mutation | G | A | p.R168K |
| HKA1_SKIN | 29519895 | 29519972 | 29519952 | 29519952 | Missense_Mutation | G | A | p.E212K |
| HEC1_ENDOMETRIUM | 29535568 | 29535652 | 29535583 | 29535583 | Missense_Mutation | G | T | p.G224C |
| CW2_LARGE_INTESTINE | 29539483 | 29539656 | 29539584 | 29539584 | Missense_Mutation | A | G | p.T281A |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29539483 | 29539656 | 29539624 | 29539624 | Missense_Mutation | T | C | p.V294A |
| SKMES1_LUNG | 29539483 | 29539656 | 29539632 | 29539632 | Missense_Mutation | T | A | p.C297S |
| HSC2_UPPER_AERODIGESTIVE_TRACT | 29539483 | 29539656 | 29539639 | 29539639 | Missense_Mutation | G | A | p.R299Q |
| UMUC16_URINARY_TRACT | 29539483 | 29539656 | 29539654 | 29539654 | Missense_Mutation | G | A | p.R304K |
| NCIH345_LUNG | 29546844 | 29546981 | 29546865 | 29546865 | Missense_Mutation | C | A | p.S338Y |
| VMRCLCD_LUNG | 29546844 | 29546981 | 29546961 | 29546961 | Missense_Mutation | C | T | p.S370F |
| HT144_SKIN | 29548917 | 29549022 | 29549010 | 29549010 | Missense_Mutation | T | C | p.I408T |
| JHUEM1_ENDOMETRIUM | 29440159 | 29440444 | 29440163 | 29440163 | Nonsense_Mutation | G | T | p.G99* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHN2 |
| 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 CHN2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHN2 |
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RelatedDrugs for CHN2 |
| 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 CHN2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CHN2 | C0023903 | Liver neoplasms | 1 | CTD_human |
| CHN2 | C0032927 | Precancerous Conditions | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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