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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 C9 |
 Gene summary |
| Gene information | Gene symbol | C9 | Gene ID | 735 |
| Gene name | complement C9 | |
| Synonyms | ARMD15|C9D | |
| Cytomap | 5p13.1 | |
| Type of gene | protein-coding | |
| Description | complement component C9complement component 9 | |
| Modification date | 20180519 | |
| UniProtAcc | P02748 | |
| Context | PubMed: C9 [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 |
| C9 | GO:0001906 | cell killing | 26841934 |
| C9 | GO:0051260 | protein homooligomerization | 26841934 |
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Exon skipping events across known transcript of Ensembl for C9 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 C9 |
| 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 C9 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441698 | 5 | 39306718:39306894:39308331:39308460:39311238:39311479 | 39308331:39308460 | ENSG00000113600.6 | ENST00000263408.4 |
| exon_skip_441699 | 5 | 39311238:39311479:39315876:39316131:39331777:39331916 | 39315876:39316131 | ENSG00000113600.6 | ENST00000263408.4 |
| exon_skip_441702 | 5 | 39315876:39316131:39331777:39331916:39341247:39341395 | 39331777:39331916 | ENSG00000113600.6 | ENST00000509186.1,ENST00000263408.4 |
| exon_skip_441703 | 5 | 39341657:39341802:39342192:39342298:39364489:39364597 | 39342192:39342298 | ENSG00000113600.6 | ENST00000467285.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for C9 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441698 | 5 | 39306718:39306894:39308331:39308460:39311238:39311479 | 39308331:39308460 | ENSG00000113600.6 | ENST00000263408.4 |
| exon_skip_441699 | 5 | 39311238:39311479:39315876:39316131:39331777:39331916 | 39315876:39316131 | ENSG00000113600.6 | ENST00000263408.4 |
| exon_skip_441702 | 5 | 39315876:39316131:39331777:39331916:39341247:39341395 | 39331777:39331916 | ENSG00000113600.6 | ENST00000263408.4,ENST00000509186.1 |
| exon_skip_441703 | 5 | 39341657:39341802:39342192:39342298:39364489:39364597 | 39342192:39342298 | ENSG00000113600.6 | ENST00000467285.1 |
| 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 C9 |
| 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 |
| ENST00000263408 | 39331777 | 39331916 | Frame-shift |
| ENST00000263408 | 39308331 | 39308460 | In-frame |
| ENST00000263408 | 39315876 | 39316131 | 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 |
| ENST00000263408 | 39331777 | 39331916 | Frame-shift |
| ENST00000263408 | 39308331 | 39308460 | In-frame |
| ENST00000263408 | 39315876 | 39316131 | In-frame |
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Infer the effects of exon skipping event on protein functional features for C9 |
| 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 |
| ENST00000263408 | 2730 | 559 | 39315876 | 39316131 | 712 | 966 | 205 | 290 |
| ENST00000263408 | 2730 | 559 | 39308331 | 39308460 | 1208 | 1336 | 370 | 413 |
| 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 |
| ENST00000263408 | 2730 | 559 | 39315876 | 39316131 | 712 | 966 | 205 | 290 |
| ENST00000263408 | 2730 | 559 | 39308331 | 39308460 | 1208 | 1336 | 370 | 413 |
| 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 |
| P02748 | 205 | 290 | 22 | 559 | Chain | ID=PRO_0000023602;Note=Complement component C9 |
| P02748 | 205 | 290 | 22 | 265 | Chain | ID=PRO_0000023603;Note=Complement component C9a |
| P02748 | 205 | 290 | 266 | 559 | Chain | ID=PRO_0000023604;Note=Complement component C9b |
| P02748 | 205 | 290 | 254 | 255 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8603752;Dbxref=PMID:8603752 |
| P02748 | 205 | 290 | 138 | 509 | Domain | Note=MACPF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00745 |
| P02748 | 205 | 290 | 277 | 277 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:4055801;Dbxref=PMID:16335952,PMID:19159218,PMID:4055801 |
| P02748 | 205 | 290 | 279 | 279 | Natural variant | ID=VAR_033802;Note=T->S;Dbxref=dbSNP:rs34625111 |
| P02748 | 205 | 290 | 265 | 266 | Site | Note=Cleavage%3B by thrombin |
| P02748 | 370 | 413 | 22 | 559 | Chain | ID=PRO_0000023602;Note=Complement component C9 |
| P02748 | 370 | 413 | 266 | 559 | Chain | ID=PRO_0000023604;Note=Complement component C9b |
| P02748 | 370 | 413 | 380 | 405 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8603752;Dbxref=PMID:8603752 |
| P02748 | 370 | 413 | 138 | 509 | Domain | Note=MACPF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00745 |
| 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 |
| P02748 | 205 | 290 | 22 | 559 | Chain | ID=PRO_0000023602;Note=Complement component C9 |
| P02748 | 205 | 290 | 22 | 265 | Chain | ID=PRO_0000023603;Note=Complement component C9a |
| P02748 | 205 | 290 | 266 | 559 | Chain | ID=PRO_0000023604;Note=Complement component C9b |
| P02748 | 205 | 290 | 254 | 255 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8603752;Dbxref=PMID:8603752 |
| P02748 | 205 | 290 | 138 | 509 | Domain | Note=MACPF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00745 |
| P02748 | 205 | 290 | 277 | 277 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218,ECO:0000269|PubMed:4055801;Dbxref=PMID:16335952,PMID:19159218,PMID:4055801 |
| P02748 | 205 | 290 | 279 | 279 | Natural variant | ID=VAR_033802;Note=T->S;Dbxref=dbSNP:rs34625111 |
| P02748 | 205 | 290 | 265 | 266 | Site | Note=Cleavage%3B by thrombin |
| P02748 | 370 | 413 | 22 | 559 | Chain | ID=PRO_0000023602;Note=Complement component C9 |
| P02748 | 370 | 413 | 266 | 559 | Chain | ID=PRO_0000023604;Note=Complement component C9b |
| P02748 | 370 | 413 | 380 | 405 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8603752;Dbxref=PMID:8603752 |
| P02748 | 370 | 413 | 138 | 509 | Domain | Note=MACPF;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00745 |
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SNVs in the skipped exons for C9 |
| - 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 |
| CESC | TCGA-FU-A5XV-01 | exon_skip_441698 | 39308332 | 39308460 | 39308447 | 39308447 | Frame_Shift_Del | T | - | p.D376fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_441699 | 39315877 | 39316131 | 39316001 | 39316001 | Frame_Shift_Del | T | - | p.N249fs |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_441699 | 39315877 | 39316131 | 39315889 | 39315889 | Nonsense_Mutation | A | C | p.Y286* |
| SKCM | TCGA-EE-A184-06 | exon_skip_441702 | 39331778 | 39331916 | 39331858 | 39331858 | Nonsense_Mutation | C | A | p.G179* |
| SKCM | TCGA-EE-A184-06 | exon_skip_441702 | 39331778 | 39331916 | 39331858 | 39331858 | Nonsense_Mutation | C | A | p.G179X |
| SKCM | TCGA-D9-A4Z3-01 | exon_skip_441703 | 39342193 | 39342298 | 39342232 | 39342232 | Nonsense_Mutation | C | T | p.W48* |
| SKCM | TCGA-D9-A4Z3-01 | exon_skip_441703 | 39342193 | 39342298 | 39342232 | 39342232 | Nonsense_Mutation | C | T | p.W48X |
| - 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 |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39308332 | 39308460 | 39308347 | 39308347 | Missense_Mutation | C | T | p.G409R |
| NCIH1770_LUNG | 39315877 | 39316131 | 39315936 | 39315936 | Missense_Mutation | G | A | p.R271W |
| LS411N_LARGE_INTESTINE | 39315877 | 39316131 | 39316010 | 39316010 | Missense_Mutation | G | A | p.T246I |
| SNU81_LARGE_INTESTINE | 39315877 | 39316131 | 39316057 | 39316057 | Missense_Mutation | C | A | p.E230D |
| FADU_UPPER_AERODIGESTIVE_TRACT | 39315877 | 39316131 | 39316058 | 39316058 | Missense_Mutation | T | G | p.E230A |
| SNUC4_LARGE_INTESTINE | 39315877 | 39316131 | 39316122 | 39316122 | Missense_Mutation | C | T | p.E209K |
| MEWO_SKIN | 39331778 | 39331916 | 39331806 | 39331806 | Missense_Mutation | G | A | p.P196L |
| CADOES1_BONE | 39331778 | 39331916 | 39331826 | 39331827 | Missense_Mutation | AG | GT | p.T189N |
| P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39331778 | 39331916 | 39331857 | 39331857 | Missense_Mutation | C | T | p.G179E |
| NCIH2085_LUNG | 39331778 | 39331916 | 39331891 | 39331891 | Missense_Mutation | G | T | p.L168I |
| LOXIMVI_SKIN | 39331778 | 39331916 | 39331897 | 39331897 | Missense_Mutation | C | T | p.D166N |
| NCIH513_PLEURA | 39331778 | 39331916 | 39331897 | 39331897 | Missense_Mutation | C | A | p.D166Y |
| HCT15_LARGE_INTESTINE | 39342193 | 39342298 | 39342209 | 39342209 | Missense_Mutation | G | T | p.P56H |
| DMS153_LUNG | 39308332 | 39308460 | 39308368 | 39308368 | Nonsense_Mutation | T | A | p.K402* |
| HCC2998_LARGE_INTESTINE | 39331778 | 39331916 | 39331780 | 39331780 | Nonsense_Mutation | C | A | p.E205* |
| NCIH650_LUNG | 39331778 | 39331916 | 39331870 | 39331870 | Nonsense_Mutation | C | A | p.E175* |
| UACC893_BREAST | 39331778 | 39331916 | 39331916 | 39331916 | Splice_Site | C | T | p.G159G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C9 |
| 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 C9 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C9 |
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RelatedDrugs for C9 |
| 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 C9 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| C9 | C0021051 | Immunologic Deficiency Syndromes | 2 | CTD_human |
| C9 | C0011633 | Dermatomyositis | 1 | CTD_human |
| C9 | C0015456 | Facial Dermatoses | 1 | CTD_human |
| C9 | C0025294 | Meningococcal meningitis | 1 | CTD_human |
| C9 | C0027412 | Opioid-Related Disorders | 1 | CTD_human |
| C9 | C0041834 | Erythema | 1 | CTD_human |
| C9 | C0242383 | Age related macular degeneration | 1 | CTD_human |
| C9 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| C9 | C2239176 | Liver carcinoma | 1 | CTD_human |
| C9 | C3151189 | C9 Deficiency | 1 | UNIPROT |
| C9 | C3810042 | MACULAR DEGENERATION, AGE-RELATED, 15 | 1 | UNIPROT |
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