|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for CCDC102B |
 Gene summary |
| Gene information | Gene symbol | CCDC102B | Gene ID | 79839 |
| Gene name | coiled-coil domain containing 102B | |
| Synonyms | ACY1L|AN|C18orf14|HsT1731 | |
| Cytomap | 18q22.1-q22.2 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 102B | |
| Modification date | 20180519 | |
| UniProtAcc | Q68D86 | |
| Context | PubMed: CCDC102B [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 |
Top |
Exon skipping events across known transcript of Ensembl for CCDC102B 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. |
 |
Top |
Gene isoform structures and expression levels for CCDC102B |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for CCDC102B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_297362 | 18 | 66383764:66383831:66401970:66402003:66420532:66422236 | 66401970:66402003 | ENSG00000150636.11 | ENST00000580292.1 |
| exon_skip_297364 | 18 | 66383764:66383831:66401970:66402003:66503985:66504277 | 66401970:66402003 | ENSG00000150636.11 | ENST00000584775.1 |
| exon_skip_297370 | 18 | 66465316:66465418:66503985:66504606:66505942:66506163 | 66503985:66504606 | ENSG00000150636.11 | ENST00000360242.5,ENST00000358653.5 |
| exon_skip_297374 | 18 | 66541905:66542022:66564455:66564665:66678170:66678341 | 66564455:66564665 | ENSG00000150636.11 | ENST00000360242.5,ENST00000319445.6,ENST00000584156.1 |
| exon_skip_297379 | 18 | 66564455:66564665:66678170:66678341:66721266:66722426 | 66678170:66678341 | ENSG00000150636.11 | ENST00000360242.5,ENST00000319445.6 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for CCDC102B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_297362 | 18 | 66383764:66383831:66401970:66402003:66420532:66422236 | 66401970:66402003 | ENSG00000150636.11 | ENST00000580292.1 |
| exon_skip_297364 | 18 | 66383764:66383831:66401970:66402003:66503985:66504277 | 66401970:66402003 | ENSG00000150636.11 | ENST00000584775.1 |
| exon_skip_297365 | 18 | 66383764:66383831:66490602:66490653:66503985:66504277 | 66490602:66490653 | ENSG00000150636.11 | ENST00000578970.1 |
| exon_skip_297370 | 18 | 66465316:66465418:66503985:66504606:66505942:66506163 | 66503985:66504606 | ENSG00000150636.11 | ENST00000360242.5,ENST00000358653.5 |
| exon_skip_297374 | 18 | 66541905:66542022:66564455:66564665:66678170:66678341 | 66564455:66564665 | ENSG00000150636.11 | ENST00000319445.6,ENST00000360242.5,ENST00000584156.1 |
| exon_skip_297379 | 18 | 66564455:66564665:66678170:66678341:66721266:66722426 | 66678170:66678341 | ENSG00000150636.11 | ENST00000319445.6,ENST00000360242.5 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for CCDC102B |
| 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 |
| ENST00000360242 | 66503985 | 66504606 | 5CDS-5UTR |
| ENST00000360242 | 66564455 | 66564665 | In-frame |
| ENST00000360242 | 66678170 | 66678341 | 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 |
| ENST00000360242 | 66503985 | 66504606 | 5CDS-5UTR |
| ENST00000360242 | 66564455 | 66564665 | In-frame |
| ENST00000360242 | 66678170 | 66678341 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for CCDC102B |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000360242 | 2728 | 513 | 66564455 | 66564665 | 1171 | 1380 | 351 | 421 |
| ENST00000360242 | 2728 | 513 | 66678170 | 66678341 | 1381 | 1551 | 421 | 478 |
| 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 |
| ENST00000360242 | 2728 | 513 | 66564455 | 66564665 | 1171 | 1380 | 351 | 421 |
| ENST00000360242 | 2728 | 513 | 66678170 | 66678341 | 1381 | 1551 | 421 | 478 |
| 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 |
| Q68D86 | 351 | 421 | 1 | 513 | Chain | ID=PRO_0000079308;Note=Coiled-coil domain-containing protein 102B |
| Q68D86 | 351 | 421 | 363 | 513 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q68D86 | 351 | 421 | 370 | 370 | Natural variant | ID=VAR_047333;Note=E->G;Dbxref=dbSNP:rs34102373 |
| Q68D86 | 351 | 421 | 382 | 382 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q68D86 | 421 | 478 | 1 | 513 | Chain | ID=PRO_0000079308;Note=Coiled-coil domain-containing protein 102B |
| Q68D86 | 421 | 478 | 363 | 513 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q68D86 | 421 | 478 | 425 | 425 | Natural variant | ID=VAR_047334;Note=N->K;Dbxref=dbSNP:rs17080065 |
| Q68D86 | 421 | 478 | 429 | 429 | Natural variant | ID=VAR_022894;Note=A->P;Dbxref=dbSNP:rs9963788 |
| Q68D86 | 421 | 478 | 469 | 469 | Sequence conflict | Note=K->R;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 |
| Q68D86 | 351 | 421 | 1 | 513 | Chain | ID=PRO_0000079308;Note=Coiled-coil domain-containing protein 102B |
| Q68D86 | 351 | 421 | 363 | 513 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q68D86 | 351 | 421 | 370 | 370 | Natural variant | ID=VAR_047333;Note=E->G;Dbxref=dbSNP:rs34102373 |
| Q68D86 | 351 | 421 | 382 | 382 | Sequence conflict | Note=R->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q68D86 | 421 | 478 | 1 | 513 | Chain | ID=PRO_0000079308;Note=Coiled-coil domain-containing protein 102B |
| Q68D86 | 421 | 478 | 363 | 513 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q68D86 | 421 | 478 | 425 | 425 | Natural variant | ID=VAR_047334;Note=N->K;Dbxref=dbSNP:rs17080065 |
| Q68D86 | 421 | 478 | 429 | 429 | Natural variant | ID=VAR_022894;Note=A->P;Dbxref=dbSNP:rs9963788 |
| Q68D86 | 421 | 478 | 469 | 469 | Sequence conflict | Note=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Top |
SNVs in the skipped exons for CCDC102B |
| - 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 |
| STAD | TCGA-HF-7132-01 | exon_skip_297370 | 66503986 | 66504606 | 66504103 | 66504103 | Frame_Shift_Del | C | - | p.S34fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_297370 | 66503986 | 66504606 | 66504103 | 66504103 | Frame_Shift_Del | C | - | p.S34fs |
| STAD | TCGA-CG-5728-01 | exon_skip_297370 | 66503986 | 66504606 | 66504311 | 66504311 | Frame_Shift_Del | A | - | p.E104fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_297370 | 66503986 | 66504606 | 66504585 | 66504585 | Frame_Shift_Del | A | - | p.T195fs |
| COAD | TCGA-AA-3713-01 | exon_skip_297374 | 66564456 | 66564665 | 66564655 | 66564655 | Frame_Shift_Del | A | - | p.E418fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_297379 | 66678171 | 66678341 | 66678265 | 66678265 | Frame_Shift_Del | A | - | p.Q453fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_297379 | 66678171 | 66678341 | 66678328 | 66678328 | Frame_Shift_Del | A | - | p.Q474fs |
| SKCM | TCGA-EB-A41A-01 | exon_skip_297370 | 66503986 | 66504606 | 66504328 | 66504328 | Nonsense_Mutation | C | T | p.R110* |
| SKCM | TCGA-EB-A41A-01 | exon_skip_297370 | 66503986 | 66504606 | 66504328 | 66504328 | Nonsense_Mutation | C | T | p.R110X |
| COAD | TCGA-AA-3510-01 | exon_skip_297370 | 66503986 | 66504606 | 66504397 | 66504397 | Nonsense_Mutation | G | T | p.E133X |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_297370 | 66503986 | 66504606 | 66504496 | 66504496 | Nonsense_Mutation | G | T | p.E166* |
| SKCM | TCGA-GF-A2C7-01 | exon_skip_297374 | 66564456 | 66564665 | 66564491 | 66564491 | Nonsense_Mutation | G | A | p.W363* |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_297374 | 66564456 | 66564665 | 66564537 | 66564537 | Nonsense_Mutation | G | T | p.E379* |
| SKCM | TCGA-EE-A181-06 | exon_skip_297374 | 66564456 | 66564665 | 66564615 | 66564615 | Nonsense_Mutation | C | T | p.Q405X |
| SKCM | TCGA-EE-A2MT-06 | exon_skip_297379 | 66678171 | 66678341 | 66678186 | 66678186 | Nonsense_Mutation | C | T | p.Q427* |
| SKCM | TCGA-ER-A19O-06 | exon_skip_297379 | 66678171 | 66678341 | 66678264 | 66678264 | Nonsense_Mutation | C | T | p.Q453* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_297374 | 66564456 | 66564665 | 66564454 | 66564454 | Splice_Site | A | G | e5-2 |
| - 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 |
| TGBC11TKB_STOMACH | 66503986 | 66504606 | 66504103 | 66504103 | Frame_Shift_Del | C | - | p.P36fs |
| SW13_ADRENAL_CORTEX | 66503986 | 66504606 | 66504107 | 66504107 | Missense_Mutation | C | G | p.P36R |
| NCIH1092_LUNG | 66503986 | 66504606 | 66504152 | 66504152 | Missense_Mutation | C | T | p.S51F |
| DERL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66503986 | 66504606 | 66504173 | 66504173 | Missense_Mutation | G | A | p.C58Y |
| JHUEM7_ENDOMETRIUM | 66503986 | 66504606 | 66504220 | 66504220 | Missense_Mutation | C | T | p.R74C |
| WM88_SKIN | 66503986 | 66504606 | 66504229 | 66504229 | Missense_Mutation | G | A | p.E77K |
| T3M4_PANCREAS | 66503986 | 66504606 | 66504313 | 66504313 | Missense_Mutation | A | G | p.K105E |
| NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66503986 | 66504606 | 66504365 | 66504365 | Missense_Mutation | A | G | p.Q122R |
| HCC2998_LARGE_INTESTINE | 66503986 | 66504606 | 66504388 | 66504388 | Missense_Mutation | G | T | p.A130S |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 66503986 | 66504606 | 66504389 | 66504389 | Missense_Mutation | C | T | p.A130V |
| TO175T_FIBROBLAST | 66503986 | 66504606 | 66504406 | 66504407 | Missense_Mutation | AC | GA | p.T136E |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66503986 | 66504606 | 66504508 | 66504508 | Missense_Mutation | C | T | p.H170Y |
| HCC2998_LARGE_INTESTINE | 66503986 | 66504606 | 66504581 | 66504581 | Missense_Mutation | C | T | p.S194F |
| K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66564456 | 66564665 | 66564526 | 66564526 | Missense_Mutation | G | T | p.G375V |
| TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66564456 | 66564665 | 66564526 | 66564526 | Missense_Mutation | G | A | p.G375E |
| K2_SKIN | 66564456 | 66564665 | 66564572 | 66564572 | Missense_Mutation | G | A | p.M390I |
| SNU1040_LARGE_INTESTINE | 66564456 | 66564665 | 66564628 | 66564628 | Missense_Mutation | T | C | p.F409S |
| 786O_KIDNEY | 66564456 | 66564665 | 66564631 | 66564631 | Missense_Mutation | A | C | p.K410T |
| MFE319_ENDOMETRIUM | 66564456 | 66564665 | 66564646 | 66564646 | Missense_Mutation | A | T | p.D415V |
| VCAP_PROSTATE | 66564456 | 66564665 | 66564657 | 66564657 | Missense_Mutation | A | G | p.K419E |
| SKMES1_LUNG | 66678171 | 66678341 | 66678189 | 66678189 | Missense_Mutation | C | T | p.H428Y |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66678171 | 66678341 | 66678265 | 66678265 | Missense_Mutation | A | G | p.Q453R |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC102B |
| 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 |
| exon_skip_297379 | 18 | 66564455:66564665:66678170:66678341:66721266:66722426 | 66678170:66678341 | ENST00000360242.5,ENST00000319445.6 | THCA | rs3763951 | chr18:66678326 | T/C | 2.66e-03 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC102B |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC102B |
Top |
RelatedDrugs for CCDC102B |
| 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 |
Top |
RelatedDiseases for CCDC102B |
| 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)
|