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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 ADCY4 |
 Gene summary |
| Gene information | Gene symbol | ADCY4 | Gene ID | 196883 |
| Gene name | adenylate cyclase 4 | |
| Synonyms | AC4 | |
| Cytomap | 14q12 | |
| Type of gene | protein-coding | |
| Description | adenylate cyclase type 4ATP pyrophosphate-lyase 4adenylate cyclase type IVadenylyl cyclase 4 | |
| Modification date | 20180522 | |
| UniProtAcc | Q8NFM4 | |
| Context | PubMed: ADCY4 [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 ADCY4 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 ADCY4 |
| 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 ADCY4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112101 | 14 | 24787597:24787774:24787859:24787984:24788303:24788418 | 24787859:24787984 | ENSG00000129467.9 | ENST00000310677.4,ENST00000545213.1,ENST00000554781.1,ENST00000554577.1,ENST00000554068.2,ENST00000418030.2,ENST00000557056.1 |
| exon_skip_112103 | 14 | 24788534:24788642:24788947:24789094:24790921:24791182 | 24788947:24789094 | ENSG00000129467.9 | ENST00000554577.1 |
| exon_skip_112104 | 14 | 24788534:24788642:24788947:24789094:24791271:24791430 | 24788947:24789094 | ENSG00000129467.9 | ENST00000310677.4,ENST00000554781.1,ENST00000554068.2,ENST00000418030.2,ENST00000557056.1 |
| exon_skip_112109 | 14 | 24788947:24789094:24790921:24791182:24791271:24791430 | 24790921:24791182 | ENSG00000129467.9 | ENST00000554577.1 |
| exon_skip_112111 | 14 | 24791271:24791430:24791829:24791914:24792109:24792294 | 24791829:24791914 | ENSG00000129467.9 | ENST00000310677.4,ENST00000545213.1,ENST00000554781.1,ENST00000554068.2,ENST00000418030.2 |
| exon_skip_112121 | 14 | 24791829:24791914:24792109:24792294:24792549:24792660 | 24792109:24792294 | ENSG00000129467.9 | ENST00000310677.4,ENST00000545213.1,ENST00000554781.1,ENST00000554577.1,ENST00000554068.2,ENST00000418030.2 |
| exon_skip_112124 | 14 | 24792109:24792294:24792549:24792660:24793267:24793405 | 24792549:24792660 | ENSG00000129467.9 | ENST00000310677.4,ENST00000554781.1,ENST00000554577.1,ENST00000554068.2,ENST00000418030.2 |
| exon_skip_112125 | 14 | 24792109:24792294:24792549:24792660:24794582:24794680 | 24792549:24792660 | ENSG00000129467.9 | ENST00000545213.1 |
| exon_skip_112129 | 14 | 24792549:24792660:24793267:24793405:24793512:24793597 | 24793267:24793405 | ENSG00000129467.9 | ENST00000310677.4,ENST00000554781.1,ENST00000554577.1,ENST00000396747.3,ENST00000554068.2,ENST00000418030.2,ENST00000557056.1 |
| exon_skip_112134 | 14 | 24793267:24793405:24793512:24793597:24794582:24794680 | 24793512:24793597 | ENSG00000129467.9 | ENST00000310677.4,ENST00000554781.1,ENST00000554577.1,ENST00000396747.3,ENST00000554068.2,ENST00000418030.2,ENST00000557056.1 |
| exon_skip_112135 | 14 | 24795504:24795548:24797812:24798079:24798266:24798436 | 24797812:24798079 | ENSG00000129467.9 | ENST00000545213.1 |
| exon_skip_112136 | 14 | 24798606:24798739:24799065:24799224:24799373:24799501 | 24799065:24799224 | ENSG00000129467.9 | ENST00000310677.4,ENST00000554781.1,ENST00000554068.2,ENST00000418030.2 |
| exon_skip_112138 | 14 | 24799065:24799224:24799373:24799501:24800223:24800335 | 24799373:24799501 | ENSG00000129467.9 | ENST00000310677.4,ENST00000554068.2,ENST00000418030.2 |
| exon_skip_112140 | 14 | 24799065:24799224:24799373:24799533:24800223:24800335 | 24799373:24799533 | ENSG00000129467.9 | ENST00000554781.1 |
| exon_skip_112149 | 14 | 24800223:24800335:24800413:24800562:24800993:24801143 | 24800413:24800562 | ENSG00000129467.9 | ENST00000310677.4,ENST00000554781.1,ENST00000396747.3,ENST00000554068.2,ENST00000418030.2,ENST00000557056.1,ENST00000554674.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ADCY4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112101 | 14 | 24787597:24787774:24787859:24787984:24788303:24788418 | 24787859:24787984 | ENSG00000129467.9 | ENST00000310677.4,ENST00000557056.1,ENST00000554577.1,ENST00000554068.2,ENST00000545213.1,ENST00000554781.1,ENST00000418030.2 |
| exon_skip_112103 | 14 | 24788534:24788642:24788947:24789094:24790921:24791182 | 24788947:24789094 | ENSG00000129467.9 | ENST00000554577.1 |
| exon_skip_112104 | 14 | 24788534:24788642:24788947:24789094:24791271:24791430 | 24788947:24789094 | ENSG00000129467.9 | ENST00000310677.4,ENST00000557056.1,ENST00000554068.2,ENST00000554781.1,ENST00000418030.2 |
| exon_skip_112105 | 14 | 24788534:24788642:24788947:24789110:24791271:24791430 | 24788947:24789110 | ENSG00000129467.9 | ENST00000545213.1 |
| exon_skip_112109 | 14 | 24788947:24789094:24790921:24791182:24791271:24791430 | 24790921:24791182 | ENSG00000129467.9 | ENST00000554577.1 |
| exon_skip_112111 | 14 | 24791271:24791430:24791829:24791914:24792109:24792294 | 24791829:24791914 | ENSG00000129467.9 | ENST00000310677.4,ENST00000554068.2,ENST00000545213.1,ENST00000554781.1,ENST00000418030.2 |
| exon_skip_112121 | 14 | 24791829:24791914:24792109:24792294:24792549:24792660 | 24792109:24792294 | ENSG00000129467.9 | ENST00000310677.4,ENST00000554577.1,ENST00000554068.2,ENST00000545213.1,ENST00000554781.1,ENST00000418030.2 |
| exon_skip_112124 | 14 | 24792109:24792294:24792549:24792660:24793267:24793405 | 24792549:24792660 | ENSG00000129467.9 | ENST00000310677.4,ENST00000554577.1,ENST00000554068.2,ENST00000554781.1,ENST00000418030.2 |
| exon_skip_112125 | 14 | 24792109:24792294:24792549:24792660:24794582:24794680 | 24792549:24792660 | ENSG00000129467.9 | ENST00000545213.1 |
| exon_skip_112129 | 14 | 24792549:24792660:24793267:24793405:24793512:24793597 | 24793267:24793405 | ENSG00000129467.9 | ENST00000310677.4,ENST00000557056.1,ENST00000554577.1,ENST00000554068.2,ENST00000554781.1,ENST00000418030.2,ENST00000396747.3 |
| exon_skip_112134 | 14 | 24793267:24793405:24793512:24793597:24794582:24794680 | 24793512:24793597 | ENSG00000129467.9 | ENST00000310677.4,ENST00000557056.1,ENST00000554577.1,ENST00000554068.2,ENST00000554781.1,ENST00000418030.2,ENST00000396747.3 |
| exon_skip_112135 | 14 | 24795504:24795548:24797812:24798079:24798266:24798436 | 24797812:24798079 | ENSG00000129467.9 | ENST00000545213.1 |
| exon_skip_112136 | 14 | 24798606:24798739:24799065:24799224:24799373:24799501 | 24799065:24799224 | ENSG00000129467.9 | ENST00000310677.4,ENST00000554068.2,ENST00000554781.1,ENST00000418030.2 |
| exon_skip_112138 | 14 | 24799065:24799224:24799373:24799501:24800223:24800335 | 24799373:24799501 | ENSG00000129467.9 | ENST00000310677.4,ENST00000554068.2,ENST00000418030.2 |
| exon_skip_112140 | 14 | 24799065:24799224:24799373:24799533:24800223:24800335 | 24799373:24799533 | ENSG00000129467.9 | ENST00000554781.1 |
| exon_skip_112149 | 14 | 24800223:24800335:24800413:24800562:24800993:24801143 | 24800413:24800562 | ENSG00000129467.9 | ENST00000310677.4,ENST00000557056.1,ENST00000554068.2,ENST00000554781.1,ENST00000418030.2,ENST00000396747.3,ENST00000554674.1 |
| exon_skip_112150 | 14 | 24801996:24802194:24803699:24803841:24804189:24804277 | 24803699:24803841 | ENSG00000129467.9 | ENST00000559167.1,ENST00000558125.1 |
| exon_skip_112152 | 14 | 24801996:24802194:24803699:24803888:24804189:24804277 | 24803699:24803888 | ENSG00000129467.9 | ENST00000554068.2 |
| 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 ADCY4 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for ADCY4 |
| 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 |
| 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 |
| 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 ADCY4 |
| - 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-DD-A1EG-01 | exon_skip_112101 | 24787860 | 24787984 | 24787922 | 24787922 | Frame_Shift_Del | A | - | p.W1007fs |
| HNSC | TCGA-CV-7440-01 | exon_skip_112103 exon_skip_112104 | 24788948 | 24789094 | 24788954 | 24788954 | Frame_Shift_Del | A | - | p.F909fs |
| PRAD | TCGA-EJ-7785-01 | exon_skip_112124 exon_skip_112125 | 24792550 | 24792660 | 24792632 | 24792632 | Frame_Shift_Del | G | - | p.P692fs |
| BLCA | TCGA-ZF-A9RN-01 | exon_skip_112129 | 24793268 | 24793405 | 24793385 | 24793385 | Frame_Shift_Del | G | - | p.P643fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_112129 | 24793268 | 24793405 | 24793385 | 24793385 | Frame_Shift_Del | G | - | p.P643fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_112129 | 24793268 | 24793405 | 24793385 | 24793385 | Frame_Shift_Del | G | - | p.P643fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_112134 | 24793513 | 24793597 | 24793537 | 24793537 | Frame_Shift_Del | A | - | p.F628fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_112101 | 24787860 | 24787984 | 24787921 | 24787922 | Frame_Shift_Ins | - | A | p.G1007fs |
| LIHC | TCGA-BC-A10T-01 | exon_skip_112101 | 24787860 | 24787984 | 24787938 | 24787939 | Frame_Shift_Ins | - | T | p.K1001fs |
| HNSC | TCGA-CV-5430-01 | exon_skip_112103 exon_skip_112104 | 24788948 | 24789094 | 24789048 | 24789048 | Nonsense_Mutation | G | C | p.S878* |
| LIHC | TCGA-UB-A7MB-01 | exon_skip_112121 | 24792110 | 24792294 | 24792119 | 24792119 | Nonsense_Mutation | A | T | p.L778* |
| LIHC | TCGA-UB-A7MB-01 | exon_skip_112121 | 24792110 | 24792294 | 24792119 | 24792119 | Nonsense_Mutation | A | T | p.L778X |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_112129 | 24793268 | 24793405 | 24793333 | 24793333 | Nonsense_Mutation | C | A | p.G661* |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_112129 | 24793268 | 24793405 | 24793406 | 24793406 | Splice_Site | C | T | . |
| - 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 |
| SKOV3_OVARY | 24792550 | 24792660 | 24792652 | 24792654 | In_Frame_Del | GAA | - | p.F685del |
| SNU626_CENTRAL_NERVOUS_SYSTEM | 24791830 | 24791914 | 24791853 | 24791854 | In_Frame_Ins | - | GAA | p.801_802insF |
| TCCSUP_URINARY_TRACT | 24787860 | 24787984 | 24787900 | 24787900 | Missense_Mutation | G | T | p.A1014D |
| NCIH23_LUNG | 24788948 | 24789094 | 24788953 | 24788953 | Missense_Mutation | C | A | p.D910Y |
| NCIH2087_LUNG | 24788948 | 24789094 | 24789004 | 24789004 | Missense_Mutation | G | T | p.H893N |
| U2OS_BONE | 24788948 | 24789094 | 24789052 | 24789052 | Missense_Mutation | C | T | p.A877T |
| MEWO_SKIN | 24791830 | 24791914 | 24791873 | 24791873 | Missense_Mutation | G | A | p.S795F |
| RL952_ENDOMETRIUM | 24792110 | 24792294 | 24792137 | 24792137 | Missense_Mutation | C | T | p.R772H |
| COLO783_SKIN | 24792110 | 24792294 | 24792254 | 24792254 | Missense_Mutation | G | A | p.S733F |
| IGROV1_OVARY | 24793268 | 24793405 | 24793344 | 24793344 | Missense_Mutation | G | A | p.A657V |
| JHUEM1_ENDOMETRIUM | 24793268 | 24793405 | 24793363 | 24793363 | Missense_Mutation | C | T | p.A651T |
| MM127_SKIN | 24793513 | 24793597 | 24793577 | 24793577 | Missense_Mutation | G | A | p.T615M |
| HEC1A_ENDOMETRIUM | 24793513 | 24793597 | 24793577 | 24793577 | Missense_Mutation | G | A | p.T615M |
| HEC1_ENDOMETRIUM | 24793513 | 24793597 | 24793577 | 24793577 | Missense_Mutation | G | A | p.T615M |
| MFE319_ENDOMETRIUM | 24793513 | 24793597 | 24793595 | 24793595 | Missense_Mutation | G | A | p.P609L |
| U118MG_CENTRAL_NERVOUS_SYSTEM | 24799066 | 24799224 | 24799106 | 24799106 | Missense_Mutation | C | A | p.V393F |
| MKN45_STOMACH | 24799066 | 24799224 | 24799124 | 24799124 | Missense_Mutation | C | T | p.D387N |
| SNU216_STOMACH | 24799374 | 24799533 | 24799380 | 24799380 | Missense_Mutation | G | A | p.A351V |
| SNU216_STOMACH | 24799374 | 24799501 | 24799380 | 24799380 | Missense_Mutation | G | A | p.A351V |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24800414 | 24800562 | 24800517 | 24800517 | Missense_Mutation | T | C | p.M239V |
| HEC251_ENDOMETRIUM | 24787860 | 24787984 | 24787929 | 24787929 | Nonsense_Mutation | A | C | p.Y1004* |
| SKMEL24_SKIN | 24793268 | 24793405 | 24793268 | 24793268 | Splice_Site | C | T | p.L682L |
| SISO_CERVIX | 24793513 | 24793597 | 24793514 | 24793514 | Splice_Site | A | G | p.M636T |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24793513 | 24793597 | 24793514 | 24793514 | Splice_Site | A | G | p.M636T |
| CW2_LARGE_INTESTINE | 24800414 | 24800562 | 24800414 | 24800414 | Splice_Site | C | A | p.S273I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ADCY4 |
| 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 ADCY4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ADCY4 |
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RelatedDrugs for ADCY4 |
| 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 ADCY4 |
| 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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