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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 CCDC88A |
Gene summary |
| Gene information | Gene symbol | CCDC88A | Gene ID | 55704 |
| Gene name | coiled-coil domain containing 88A | |
| Synonyms | APE|GIRDIN|GIV|GRDN|HkRP1|KIAA1212|PEHO|PEHOL | |
| Cytomap | 2p16.1 | |
| Type of gene | protein-coding | |
| Description | girdinAKT-phosphorylation enhancerHook-related protein 1g alpha-interacting vesicle-associated proteingirders of actin filamentgirders of actin filaments | |
| Modification date | 20180523 | |
| UniProtAcc | Q3V6T2 | |
| Context | PubMed: CCDC88A [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 |
| CCDC88A | GO:0061024 | membrane organization | 15882442 |
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Exon skipping events across known transcript of Ensembl for CCDC88A 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 CCDC88A |
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 CCDC88A |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_339216 | 2 | 55523393:55523659:55526974:55527055:55528341:55528413 | 55526974:55527055 | ENSG00000115355.11 | ENST00000426576.1,ENST00000436346.1,ENST00000413716.2,ENST00000336838.6,ENST00000456975.1,ENST00000412148.1,ENST00000263630.8 |
| exon_skip_339218 | 2 | 55528341:55528413:55529007:55529208:55535944:55536159 | 55529007:55529208 | ENSG00000115355.11 | ENST00000456975.1,ENST00000412148.1,ENST00000263630.8 |
| exon_skip_339219 | 2 | 55529007:55529208:55530204:55530288:55535944:55536159 | 55530204:55530288 | ENSG00000115355.11 | ENST00000426576.1,ENST00000436346.1,ENST00000413716.2,ENST00000336838.6 |
| exon_skip_339221 | 2 | 55536372:55536390:55539569:55539715:55543063:55543187 | 55539569:55539715 | ENSG00000115355.11 | ENST00000426576.1,ENST00000436346.1,ENST00000413716.2,ENST00000336838.6,ENST00000456975.1,ENST00000474059.1,ENST00000412148.1,ENST00000263630.8 |
| exon_skip_339222 | 2 | 55543063:55543250:55544341:55544485:55544699:55544889 | 55544341:55544485 | ENSG00000115355.11 | ENST00000426576.1,ENST00000436346.1,ENST00000413716.2,ENST00000336838.6,ENST00000456975.1,ENST00000412148.1,ENST00000263630.8 |
| exon_skip_339223 | 2 | 55545978:55546140:55549663:55549828:55555429:55555532 | 55549663:55549828 | ENSG00000115355.11 | ENST00000426576.1,ENST00000436346.1,ENST00000413716.2,ENST00000336838.6,ENST00000412148.1,ENST00000263630.8 |
| exon_skip_339224 | 2 | 55563816:55563954:55566599:55566784:55570783:55570928 | 55566599:55566784 | ENSG00000115355.11 | ENST00000436346.1,ENST00000413716.2,ENST00000336838.6,ENST00000263630.8 |
| exon_skip_339225 | 2 | 55573310:55573469:55576653:55576735:55582714:55582887 | 55576653:55576735 | ENSG00000115355.11 | ENST00000436346.1,ENST00000413716.2,ENST00000336838.6,ENST00000263630.8 |
| exon_skip_339228 | 2 | 55576653:55576735:55582714:55582887:55589443:55589584 | 55582714:55582887 | ENSG00000115355.11 | ENST00000436346.1,ENST00000413716.2,ENST00000336838.6,ENST00000263630.8 |
| exon_skip_339230 | 2 | 55582847:55582887:55589443:55589584:55591085:55591169 | 55589443:55589584 | ENSG00000115355.11 | ENST00000430086.1,ENST00000436346.1,ENST00000413716.2,ENST00000336838.6,ENST00000263630.8 |
| exon_skip_339232 | 2 | 55601949:55602019:55615913:55616022:55645951:55646052 | 55615913:55616022 | ENSG00000115355.11 | ENST00000436346.1,ENST00000413716.2,ENST00000336838.6,ENST00000263630.8 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC88A |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_339216 | 2 | 55523393:55523659:55526974:55527055:55528341:55528413 | 55526974:55527055 | ENSG00000115355.11 | ENST00000336838.6,ENST00000263630.8,ENST00000436346.1,ENST00000412148.1,ENST00000413716.2,ENST00000426576.1,ENST00000456975.1 |
| exon_skip_339217 | 2 | 55523393:55523659:55528341:55528413:55535944:55536159 | 55528341:55528413 | ENSG00000115355.11 | ENST00000444458.1,ENST00000422883.2 |
| exon_skip_339218 | 2 | 55528341:55528413:55529007:55529208:55535944:55536159 | 55529007:55529208 | ENSG00000115355.11 | ENST00000263630.8,ENST00000412148.1,ENST00000456975.1 |
| exon_skip_339219 | 2 | 55529007:55529208:55530204:55530288:55535944:55536159 | 55530204:55530288 | ENSG00000115355.11 | ENST00000336838.6,ENST00000436346.1,ENST00000413716.2,ENST00000426576.1 |
| exon_skip_339221 | 2 | 55536372:55536390:55539569:55539715:55543063:55543187 | 55539569:55539715 | ENSG00000115355.11 | ENST00000336838.6,ENST00000263630.8,ENST00000436346.1,ENST00000412148.1,ENST00000413716.2,ENST00000426576.1,ENST00000456975.1,ENST00000474059.1 |
| exon_skip_339222 | 2 | 55543063:55543250:55544341:55544485:55544699:55544889 | 55544341:55544485 | ENSG00000115355.11 | ENST00000336838.6,ENST00000263630.8,ENST00000436346.1,ENST00000412148.1,ENST00000413716.2,ENST00000426576.1,ENST00000456975.1 |
| exon_skip_339223 | 2 | 55545978:55546140:55549663:55549828:55555429:55555532 | 55549663:55549828 | ENSG00000115355.11 | ENST00000336838.6,ENST00000263630.8,ENST00000436346.1,ENST00000412148.1,ENST00000413716.2,ENST00000426576.1 |
| exon_skip_339224 | 2 | 55563816:55563954:55566599:55566784:55570783:55570928 | 55566599:55566784 | ENSG00000115355.11 | ENST00000336838.6,ENST00000263630.8,ENST00000436346.1,ENST00000413716.2 |
| exon_skip_339225 | 2 | 55573310:55573469:55576653:55576735:55582714:55582887 | 55576653:55576735 | ENSG00000115355.11 | ENST00000336838.6,ENST00000263630.8,ENST00000436346.1,ENST00000413716.2 |
| exon_skip_339228 | 2 | 55576653:55576735:55582714:55582887:55589443:55589584 | 55582714:55582887 | ENSG00000115355.11 | ENST00000336838.6,ENST00000263630.8,ENST00000436346.1,ENST00000413716.2 |
| exon_skip_339230 | 2 | 55582847:55582887:55589443:55589584:55591085:55591169 | 55589443:55589584 | ENSG00000115355.11 | ENST00000336838.6,ENST00000263630.8,ENST00000436346.1,ENST00000413716.2,ENST00000430086.1 |
| exon_skip_339232 | 2 | 55601949:55602019:55615913:55616022:55645951:55646052 | 55615913:55616022 | ENSG00000115355.11 | ENST00000336838.6,ENST00000263630.8,ENST00000436346.1,ENST00000413716.2 |
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 CCDC88A |
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 |
| ENST00000436346 | 55539569 | 55539715 | Frame-shift |
| ENST00000436346 | 55566599 | 55566784 | Frame-shift |
| ENST00000436346 | 55576653 | 55576735 | Frame-shift |
| ENST00000436346 | 55582714 | 55582887 | Frame-shift |
| ENST00000436346 | 55615913 | 55616022 | Frame-shift |
| ENST00000436346 | 55526974 | 55527055 | In-frame |
| ENST00000436346 | 55530204 | 55530288 | In-frame |
| ENST00000436346 | 55544341 | 55544485 | In-frame |
| ENST00000436346 | 55549663 | 55549828 | In-frame |
| ENST00000436346 | 55589443 | 55589584 | 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 |
| ENST00000436346 | 55539569 | 55539715 | Frame-shift |
| ENST00000436346 | 55566599 | 55566784 | Frame-shift |
| ENST00000436346 | 55576653 | 55576735 | Frame-shift |
| ENST00000436346 | 55582714 | 55582887 | Frame-shift |
| ENST00000436346 | 55615913 | 55616022 | Frame-shift |
| ENST00000436346 | 55526974 | 55527055 | In-frame |
| ENST00000436346 | 55530204 | 55530288 | In-frame |
| ENST00000436346 | 55544341 | 55544485 | In-frame |
| ENST00000436346 | 55549663 | 55549828 | In-frame |
| ENST00000436346 | 55589443 | 55589584 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCDC88A |
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 |
| ENST00000436346 | 9828 | 1871 | 55589443 | 55589584 | 1329 | 1469 | 162 | 209 |
| ENST00000436346 | 9828 | 1871 | 55549663 | 55549828 | 3840 | 4004 | 999 | 1054 |
| ENST00000436346 | 9828 | 1871 | 55544341 | 55544485 | 4445 | 4588 | 1201 | 1248 |
| ENST00000436346 | 9828 | 1871 | 55530204 | 55530288 | 5230 | 5313 | 1462 | 1490 |
| ENST00000436346 | 9828 | 1871 | 55526974 | 55527055 | 5587 | 5667 | 1581 | 1608 |
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 |
| ENST00000436346 | 9828 | 1871 | 55589443 | 55589584 | 1329 | 1469 | 162 | 209 |
| ENST00000436346 | 9828 | 1871 | 55549663 | 55549828 | 3840 | 4004 | 999 | 1054 |
| ENST00000436346 | 9828 | 1871 | 55544341 | 55544485 | 4445 | 4588 | 1201 | 1248 |
| ENST00000436346 | 9828 | 1871 | 55530204 | 55530288 | 5230 | 5313 | 1462 | 1490 |
| ENST00000436346 | 9828 | 1871 | 55526974 | 55527055 | 5587 | 5667 | 1581 | 1608 |
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 CCDC88A |
- 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. |
- 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_339219 | 55530205 | 55530288 | 55530274 | 55530274 | Frame_Shift_Del | T | - | p.R1468fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_339222 | 55544342 | 55544485 | 55544393 | 55544393 | Frame_Shift_Del | T | - | p.N1232fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_339222 | 55544342 | 55544485 | 55544393 | 55544393 | Frame_Shift_Del | T | - | p.N1232fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_339222 | 55544342 | 55544485 | 55544399 | 55544399 | Frame_Shift_Del | T | - | p.N1230fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_339222 | 55544342 | 55544485 | 55544399 | 55544399 | Frame_Shift_Del | T | - | p.N1230fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_339222 | 55544342 | 55544485 | 55544412 | 55544412 | Frame_Shift_Del | T | - | p.M1226fs |
| STAD | TCGA-BR-4201-01 | exon_skip_339222 | 55544342 | 55544485 | 55544436 | 55544436 | Frame_Shift_Del | T | - | p.M1217fs |
| STAD | TCGA-BR-8363-01 | exon_skip_339222 | 55544342 | 55544485 | 55544436 | 55544436 | Frame_Shift_Del | T | - | p.M1217fs |
| STAD | TCGA-BR-8363-01 | exon_skip_339222 | 55544342 | 55544485 | 55544436 | 55544436 | Frame_Shift_Del | T | - | p.M1218fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_339223 | 55549664 | 55549828 | 55549764 | 55549764 | Frame_Shift_Del | G | - | p.P1022fs |
| LIHC | TCGA-DD-A3A0-01 | 55566600 | 55566784 | 55566624 | 55566624 | Frame_Shift_Del | T | - | p.K498fs | |
| LIHC | TCGA-DD-A39Y-01 | 55566600 | 55566784 | 55566632 | 55566632 | Frame_Shift_Del | T | - | p.M496fs | |
| LIHC | TCGA-DD-A3A0-01 | 55566600 | 55566784 | 55566641 | 55566641 | Frame_Shift_Del | T | - | p.I493fs | |
| LIHC | TCGA-G3-A3CJ-01 | 55566600 | 55566784 | 55566641 | 55566641 | Frame_Shift_Del | T | - | p.I493fs | |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_339225 | 55576654 | 55576735 | 55576686 | 55576686 | Frame_Shift_Del | T | - | p.M284fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_339228 | 55582715 | 55582887 | 55582839 | 55582839 | Frame_Shift_Del | G | - | p.H226fs |
| LUAD | TCGA-55-8302-01 | exon_skip_339228 | 55582715 | 55582887 | 55582851 | 55582851 | Frame_Shift_Del | G | - | p.H222fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_339232 | 55615914 | 55616022 | 55615986 | 55615986 | Frame_Shift_Del | T | - | p.K67fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_339232 | 55615914 | 55616022 | 55615986 | 55615986 | Frame_Shift_Del | T | - | p.K67fs |
| COAD | TCGA-A6-5665-01 | exon_skip_339219 | 55530205 | 55530288 | 55530260 | 55530261 | Frame_Shift_Ins | - | A | p.L1471fs |
| COAD | TCGA-G4-6628-01 | exon_skip_339230 | 55589444 | 55589584 | 55589495 | 55589496 | Frame_Shift_Ins | - | T | p.N192fs |
| ESCA | TCGA-VR-A8EZ-01 | exon_skip_339218 | 55529008 | 55529208 | 55529026 | 55529026 | Nonsense_Mutation | G | A | p.Q1551X |
| ESCA | TCGA-VR-A8EZ-01 | exon_skip_339218 | 55529008 | 55529208 | 55529026 | 55529026 | Nonsense_Mutation | G | A | p.Q1552* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_339222 | 55544342 | 55544485 | 55544424 | 55544424 | Nonsense_Mutation | C | A | p.E1221* |
| COAD | TCGA-A6-2676-01 | exon_skip_339223 | 55549664 | 55549828 | 55549732 | 55549732 | Nonsense_Mutation | G | A | p.R1031X |
| SKCM | TCGA-EE-A2MS-06 | 55566600 | 55566784 | 55566617 | 55566617 | Nonsense_Mutation | G | A | p.Q501* | |
| BLCA | TCGA-E7-A6MD-01 | exon_skip_339225 | 55576654 | 55576735 | 55576698 | 55576698 | Nonsense_Mutation | C | A | p.E280* |
| LUAD | TCGA-55-8090-01 | exon_skip_339232 | 55615914 | 55616022 | 55615934 | 55615934 | Nonsense_Mutation | G | A | p.Q85* |
- 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 | 55544342 | 55544485 | 55544425 | 55544426 | Frame_Shift_Del | TA | - | p.V1221fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 55544342 | 55544485 | 55544427 | 55544428 | Frame_Shift_Ins | - | GT | p.V1221fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 55529008 | 55529208 | 55529170 | 55529171 | In_Frame_Ins | - | TCC | p.1503_1504insG |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55529008 | 55529208 | 55529170 | 55529171 | In_Frame_Ins | - | TCC | p.1503_1504insG |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55529008 | 55529208 | 55529028 | 55529028 | Missense_Mutation | T | G | p.K1551T |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 55529008 | 55529208 | 55529040 | 55529040 | Missense_Mutation | C | G | p.G1547A |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55529008 | 55529208 | 55529040 | 55529040 | Missense_Mutation | C | G | p.G1547A |
| YD38_UPPER_AERODIGESTIVE_TRACT | 55529008 | 55529208 | 55529056 | 55529056 | Missense_Mutation | C | T | p.V1542I |
| NCIH2342_LUNG | 55529008 | 55529208 | 55529200 | 55529200 | Missense_Mutation | C | T | p.D1494N |
| NCIH2595_PLEURA | 55530205 | 55530288 | 55530214 | 55530214 | Missense_Mutation | G | A | p.R1488C |
| KYSE450_OESOPHAGUS | 55539570 | 55539715 | 55539709 | 55539709 | Missense_Mutation | T | A | p.S1314C |
| GMEL_SKIN | 55544342 | 55544485 | 55544384 | 55544384 | Missense_Mutation | G | T | p.T1235K |
| NB5_AUTONOMIC_GANGLIA | 55544342 | 55544485 | 55544406 | 55544406 | Missense_Mutation | G | A | p.L1228F |
| NCIH1666_LUNG | 55544342 | 55544485 | 55544410 | 55544410 | Missense_Mutation | C | T | p.M1226I |
| VCAP_PROSTATE | 55544342 | 55544485 | 55544445 | 55544445 | Missense_Mutation | A | T | p.L1215M |
| SNU1040_LARGE_INTESTINE | 55549664 | 55549828 | 55549671 | 55549671 | Missense_Mutation | T | C | p.E1052G |
| SNU46_UPPER_AERODIGESTIVE_TRACT | 55549664 | 55549828 | 55549689 | 55549689 | Missense_Mutation | T | A | p.D1046V |
| EW11_BONE | 55549664 | 55549828 | 55549716 | 55549716 | Missense_Mutation | G | A | p.T1037M |
| LS411N_LARGE_INTESTINE | 55549664 | 55549828 | 55549782 | 55549782 | Missense_Mutation | C | A | p.R1015M |
| MFE319_ENDOMETRIUM | 55566600 | 55566784 | 55566649 | 55566649 | Missense_Mutation | G | A | p.A490V |
| KINGS1_CENTRAL_NERVOUS_SYSTEM | 55576654 | 55576735 | 55576692 | 55576692 | Missense_Mutation | C | T | p.E282K |
| NUGC2_STOMACH | 55582715 | 55582887 | 55582724 | 55582724 | Missense_Mutation | C | A | p.R264M |
| C33A_CERVIX | 55582715 | 55582887 | 55582766 | 55582766 | Missense_Mutation | G | A | p.S250L |
| CHP126_AUTONOMIC_GANGLIA | 55582715 | 55582887 | 55582766 | 55582766 | Missense_Mutation | G | A | p.S250L |
| SNU119_OVARY | 55582715 | 55582887 | 55582815 | 55582815 | Missense_Mutation | G | A | p.P234S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 55582715 | 55582887 | 55582881 | 55582881 | Missense_Mutation | T | C | p.I212V |
| HEC251_ENDOMETRIUM | 55589444 | 55589584 | 55589467 | 55589467 | Missense_Mutation | C | A | p.D202Y |
| JHUEM7_ENDOMETRIUM | 55615914 | 55616022 | 55615924 | 55615924 | Missense_Mutation | A | C | p.F88C |
| MCC13_SKIN | 55615914 | 55616022 | 55616017 | 55616017 | Missense_Mutation | G | A | p.P57L |
| KYSE510_OESOPHAGUS | 55526975 | 55527055 | 55527052 | 55527052 | Nonsense_Mutation | G | C | p.S1583* |
| CHAGOK1_LUNG | 55544342 | 55544485 | 55544424 | 55544424 | Nonsense_Mutation | C | A | p.E1222* |
| JHUEM7_ENDOMETRIUM | 55549664 | 55549828 | 55549720 | 55549720 | Nonsense_Mutation | C | A | p.E1036* |
| CAL72_BONE | 55566600 | 55566784 | 55566752 | 55566752 | Nonsense_Mutation | C | A | p.E456* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC88A |
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 CCDC88A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC88A |
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RelatedDrugs for CCDC88A |
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 CCDC88A |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |