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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 CCDC144A |
 Gene summary |
| Gene information | Gene symbol | CCDC144A | Gene ID | 9720 |
| Gene name | coiled-coil domain containing 144A | |
| Synonyms | - | |
| Cytomap | 17p11.2 | |
| Type of gene | protein-coding | |
| Description | coiled-coil domain-containing protein 144A | |
| Modification date | 20180519 | |
| UniProtAcc | A2RUR9 | |
| Context | PubMed: CCDC144A [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 CCDC144A 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 CCDC144A |
| 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 CCDC144A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_149370 | 17 | 16610782:16610856:16612109:16612949:16614992:16615129 | 16612109:16612949 | ENSG00000170160.12 | ENST00000360495.5,ENST00000360524.8,ENST00000340621.5,ENST00000443444.2,ENST00000399273.1 |
| exon_skip_149371 | 17 | 16638003:16638957:16640851:16640989:16664738:16665032 | 16640851:16640989 | ENSG00000170160.12 | ENST00000328495.5,ENST00000360495.5,ENST00000456009.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCDC144A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_149370 | 17 | 16610782:16610856:16612109:16612949:16614992:16615129 | 16612109:16612949 | ENSG00000170160.12 | ENST00000340621.5,ENST00000399273.1,ENST00000443444.2,ENST00000360524.8,ENST00000360495.5 |
| exon_skip_149371 | 17 | 16638003:16638957:16640851:16640989:16664738:16665032 | 16640851:16640989 | ENSG00000170160.12 | ENST00000360495.5,ENST00000456009.1,ENST00000328495.5 |
| exon_skip_149372 | 17 | 16675290:16675333:16675913:16676023:16676810:16678313 | 16675913:16676023 | ENSG00000170160.12 | ENST00000443444.2,ENST00000360524.8 |
| 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 CCDC144A |
| 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 |
| ENST00000360524 | 16612109 | 16612949 | 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 |
| ENST00000360524 | 16675913 | 16676023 | Frame-shift |
| ENST00000360524 | 16612109 | 16612949 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCDC144A |
| 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 |
| ENST00000360524 | 5847 | 1427 | 16612109 | 16612949 | 815 | 1654 | 246 | 526 |
| 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 |
| ENST00000360524 | 5847 | 1427 | 16612109 | 16612949 | 815 | 1654 | 246 | 526 |
| 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 |
| A2RUR9 | 246 | 526 | 1 | 697 | Alternative sequence | ID=VSP_029787;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9628581;Dbxref=PMID:9628581 |
| A2RUR9 | 246 | 526 | 247 | 526 | Alternative sequence | ID=VSP_029788;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| A2RUR9 | 246 | 526 | 1 | 1427 | Chain | ID=PRO_0000312279;Note=Coiled-coil domain-containing protein 144A |
| A2RUR9 | 246 | 526 | 490 | 545 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| A2RUR9 | 246 | 526 | 1 | 697 | Alternative sequence | ID=VSP_029787;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9628581;Dbxref=PMID:9628581 |
| A2RUR9 | 246 | 526 | 247 | 526 | Alternative sequence | ID=VSP_029788;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| A2RUR9 | 246 | 526 | 1 | 1427 | Chain | ID=PRO_0000312279;Note=Coiled-coil domain-containing protein 144A |
| A2RUR9 | 246 | 526 | 490 | 545 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CCDC144A |
| - 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-A39Y-01 | exon_skip_149370 | 16612110 | 16612949 | 16612479 | 16612479 | Frame_Shift_Del | A | - | p.K370fs |
| PRAD | TCGA-EJ-5532-01 | exon_skip_149370 | 16612110 | 16612949 | 16612678 | 16612678 | Frame_Shift_Del | T | - | p.V436fs |
| LUSC | TCGA-21-1076-01 | exon_skip_149370 | 16612110 | 16612949 | 16612188 | 16612188 | Nonsense_Mutation | C | T | p.Q273* |
| SKCM | TCGA-EB-A3Y7-01 | exon_skip_149370 | 16612110 | 16612949 | 16612232 | 16612232 | Nonsense_Mutation | G | A | p.W287* |
| LUAD | TCGA-97-A4M7-01 | exon_skip_149370 | 16612110 | 16612949 | 16612467 | 16612467 | Nonsense_Mutation | G | T | p.E366* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_149370 | 16612110 | 16612949 | 16612833 | 16612833 | Nonsense_Mutation | G | T | p.E488* |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_149370 | 16612110 | 16612949 | 16612848 | 16612848 | Nonsense_Mutation | G | T | p.E493* |
| LUAD | TCGA-62-8398-01 | exon_skip_149370 | 16612110 | 16612949 | 16612935 | 16612935 | Nonsense_Mutation | C | T | p.Q522* |
| - 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 |
| JHUEM1_ENDOMETRIUM | 16612110 | 16612949 | 16612723 | 16612724 | Frame_Shift_Ins | - | A | p.TK451fs |
| HEC108_ENDOMETRIUM | 16612110 | 16612949 | 16612166 | 16612166 | Missense_Mutation | A | G | p.I265M |
| HEC265_ENDOMETRIUM | 16612110 | 16612949 | 16612273 | 16612273 | Missense_Mutation | G | T | p.R301M |
| KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16612110 | 16612949 | 16612285 | 16612285 | Missense_Mutation | T | C | p.I305T |
| HEC108_ENDOMETRIUM | 16612110 | 16612949 | 16612362 | 16612362 | Missense_Mutation | A | G | p.K331E |
| KYSE450_OESOPHAGUS | 16612110 | 16612949 | 16612368 | 16612368 | Missense_Mutation | A | C | p.I333L |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16612110 | 16612949 | 16612494 | 16612494 | Missense_Mutation | C | T | p.P375S |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16612110 | 16612949 | 16612579 | 16612579 | Missense_Mutation | G | A | p.C403Y |
| NB1_AUTONOMIC_GANGLIA | 16612110 | 16612949 | 16612592 | 16612592 | Missense_Mutation | C | A | p.N407K |
| GCT_SOFT_TISSUE | 16612110 | 16612949 | 16612791 | 16612791 | Missense_Mutation | G | A | p.E474K |
| SNUC4_LARGE_INTESTINE | 16612110 | 16612949 | 16612880 | 16612880 | Missense_Mutation | G | T | p.K503N |
| HT115_LARGE_INTESTINE | 16612110 | 16612949 | 16612891 | 16612891 | Missense_Mutation | A | G | p.N507S |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16612110 | 16612949 | 16612653 | 16612653 | Nonsense_Mutation | A | T | p.K428* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCDC144A |
| 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 CCDC144A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCDC144A |
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RelatedDrugs for CCDC144A |
| 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 CCDC144A |
| 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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