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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 CCT7 |
Gene summary |
| Gene information | Gene symbol | CCT7 | Gene ID | 10574 |
| Gene name | chaperonin containing TCP1 subunit 7 | |
| Synonyms | CCTETA|CCTH|NIP7-1|TCP1ETA | |
| Cytomap | 2p13.2 | |
| Type of gene | protein-coding | |
| Description | T-complex protein 1 subunit etaCCT-etaHIV-1 Nef interacting proteinTCP-1-etachaperonin containing t-complex polypeptide 1, eta subunit | |
| Modification date | 20180523 | |
| UniProtAcc | Q99832 | |
| Context | PubMed: CCT7 [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 CCT7 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 CCT7 |
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 CCT7 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_326504 | 2 | 73461463:73461512:73462677:73462773:73466770:73466830 | 73462677:73462773 | ENSG00000135624.11 | ENST00000399032.2,ENST00000539919.1 |
| exon_skip_326521 | 2 | 73466770:73466924:73467564:73467671:73470131:73470210 | 73467564:73467671 | ENSG00000135624.11 | ENST00000480489.1,ENST00000258091.5,ENST00000399032.2,ENST00000471927.1,ENST00000538797.1,ENST00000539919.1,ENST00000469844.1,ENST00000461290.1,ENST00000482064.1,ENST00000492253.1 |
| exon_skip_326528 | 2 | 73467564:73467671:73470131:73470257:73471124:73471157 | 73470131:73470257 | ENSG00000135624.11 | ENST00000258091.5,ENST00000399032.2,ENST00000539919.1,ENST00000469844.1,ENST00000461290.1 |
| exon_skip_326530 | 2 | 73470173:73470257:73471124:73471177:73471671:73471758 | 73471124:73471177 | ENSG00000135624.11 | ENST00000409924.3,ENST00000258091.5,ENST00000540468.1,ENST00000539919.1,ENST00000469844.1,ENST00000473786.1,ENST00000537131.1 |
| exon_skip_326535 | 2 | 73470173:73470257:73471671:73471843:73474889:73474917 | 73471671:73471843 | ENSG00000135624.11 | ENST00000538797.1 |
| exon_skip_326536 | 2 | 73474889:73475054:73476118:73476307:73476946:73476972 | 73476118:73476307 | ENSG00000135624.11 | ENST00000398422.2,ENST00000258091.5,ENST00000540468.1,ENST00000538797.1,ENST00000539919.1,ENST00000473786.1,ENST00000537131.1 |
| exon_skip_326538 | 2 | 73476118:73476307:73476946:73477044:73477433:73477566 | 73476946:73477044 | ENSG00000135624.11 | ENST00000398422.2,ENST00000258091.5,ENST00000540468.1,ENST00000538797.1,ENST00000539919.1,ENST00000537131.1 |
| exon_skip_326543 | 2 | 73477461:73477566:73478353:73478560:73479767:73480132 | 73478353:73478560 | ENSG00000135624.11 | ENST00000398422.2,ENST00000258091.5,ENST00000540468.1,ENST00000538797.1,ENST00000539919.1,ENST00000537131.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CCT7 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_326504 | 2 | 73461463:73461512:73462677:73462773:73466770:73466830 | 73462677:73462773 | ENSG00000135624.11 | ENST00000539919.1,ENST00000399032.2 |
| exon_skip_326521 | 2 | 73466770:73466924:73467564:73467671:73470131:73470210 | 73467564:73467671 | ENSG00000135624.11 | ENST00000471927.1,ENST00000469844.1,ENST00000492253.1,ENST00000539919.1,ENST00000258091.5,ENST00000461290.1,ENST00000399032.2,ENST00000480489.1,ENST00000538797.1,ENST00000482064.1 |
| exon_skip_326528 | 2 | 73467564:73467671:73470131:73470257:73471124:73471157 | 73470131:73470257 | ENSG00000135624.11 | ENST00000469844.1,ENST00000539919.1,ENST00000258091.5,ENST00000461290.1,ENST00000399032.2 |
| exon_skip_326530 | 2 | 73470173:73470257:73471124:73471177:73471671:73471758 | 73471124:73471177 | ENSG00000135624.11 | ENST00000469844.1,ENST00000540468.1,ENST00000539919.1,ENST00000258091.5,ENST00000409924.3,ENST00000537131.1,ENST00000473786.1 |
| exon_skip_326535 | 2 | 73470173:73470257:73471671:73471843:73474889:73474917 | 73471671:73471843 | ENSG00000135624.11 | ENST00000538797.1 |
| exon_skip_326536 | 2 | 73474889:73475054:73476118:73476307:73476946:73476972 | 73476118:73476307 | ENSG00000135624.11 | ENST00000540468.1,ENST00000539919.1,ENST00000258091.5,ENST00000398422.2,ENST00000537131.1,ENST00000538797.1,ENST00000473786.1 |
| exon_skip_326538 | 2 | 73476118:73476307:73476946:73477044:73477433:73477566 | 73476946:73477044 | ENSG00000135624.11 | ENST00000540468.1,ENST00000539919.1,ENST00000258091.5,ENST00000398422.2,ENST00000537131.1,ENST00000538797.1 |
| exon_skip_326543 | 2 | 73477461:73477566:73478353:73478560:73479767:73480132 | 73478353:73478560 | ENSG00000135624.11 | ENST00000540468.1,ENST00000539919.1,ENST00000258091.5,ENST00000398422.2,ENST00000537131.1,ENST00000538797.1 |
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 CCT7 |
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 |
| ENST00000258091 | 73467564 | 73467671 | Frame-shift |
| ENST00000258091 | 73471124 | 73471177 | Frame-shift |
| ENST00000258091 | 73476946 | 73477044 | Frame-shift |
| ENST00000258091 | 73470131 | 73470257 | In-frame |
| ENST00000258091 | 73476118 | 73476307 | In-frame |
| ENST00000258091 | 73478353 | 73478560 | 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 |
| ENST00000258091 | 73467564 | 73467671 | Frame-shift |
| ENST00000258091 | 73471124 | 73471177 | Frame-shift |
| ENST00000258091 | 73476946 | 73477044 | Frame-shift |
| ENST00000258091 | 73470131 | 73470257 | In-frame |
| ENST00000258091 | 73476118 | 73476307 | In-frame |
| ENST00000258091 | 73478353 | 73478560 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CCT7 |
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 |
| ENST00000258091 | 1933 | 543 | 73470131 | 73470257 | 409 | 534 | 89 | 131 |
| ENST00000258091 | 1933 | 543 | 73476118 | 73476307 | 925 | 1113 | 261 | 324 |
| ENST00000258091 | 1933 | 543 | 73478353 | 73478560 | 1345 | 1551 | 401 | 470 |
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 |
| ENST00000258091 | 1933 | 543 | 73470131 | 73470257 | 409 | 534 | 89 | 131 |
| ENST00000258091 | 1933 | 543 | 73476118 | 73476307 | 925 | 1113 | 261 | 324 |
| ENST00000258091 | 1933 | 543 | 73478353 | 73478560 | 1345 | 1551 | 401 | 470 |
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 |
| Q99832 | 89 | 131 | 3 | 89 | Alternative sequence | ID=VSP_043573;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q99832 | 89 | 131 | 90 | 206 | Alternative sequence | ID=VSP_043574;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q99832 | 89 | 131 | 1 | 543 | Chain | ID=PRO_0000128365;Note=T-complex protein 1 subunit eta |
| Q99832 | 89 | 131 | 2 | 543 | Chain | ID=PRO_0000434391;Note=T-complex protein 1 subunit eta%2C N-terminally processed |
| Q99832 | 261 | 324 | 1 | 543 | Chain | ID=PRO_0000128365;Note=T-complex protein 1 subunit eta |
| Q99832 | 261 | 324 | 2 | 543 | Chain | ID=PRO_0000434391;Note=T-complex protein 1 subunit eta%2C N-terminally processed |
| Q99832 | 261 | 324 | 320 | 320 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Q99832 | 261 | 324 | 282 | 283 | Sequence conflict | Note=HH->RQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99832 | 261 | 324 | 293 | 293 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99832 | 401 | 470 | 1 | 543 | Chain | ID=PRO_0000128365;Note=T-complex protein 1 subunit eta |
| Q99832 | 401 | 470 | 2 | 543 | Chain | ID=PRO_0000434391;Note=T-complex protein 1 subunit eta%2C N-terminally processed |
| Q99832 | 401 | 470 | 430 | 430 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| Q99832 | 401 | 470 | 407 | 407 | Sequence conflict | Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99832 | 401 | 470 | 411 | 411 | Sequence conflict | Note=A->P;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 |
| Q99832 | 89 | 131 | 3 | 89 | Alternative sequence | ID=VSP_043573;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q99832 | 89 | 131 | 90 | 206 | Alternative sequence | ID=VSP_043574;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q99832 | 89 | 131 | 1 | 543 | Chain | ID=PRO_0000128365;Note=T-complex protein 1 subunit eta |
| Q99832 | 89 | 131 | 2 | 543 | Chain | ID=PRO_0000434391;Note=T-complex protein 1 subunit eta%2C N-terminally processed |
| Q99832 | 261 | 324 | 1 | 543 | Chain | ID=PRO_0000128365;Note=T-complex protein 1 subunit eta |
| Q99832 | 261 | 324 | 2 | 543 | Chain | ID=PRO_0000434391;Note=T-complex protein 1 subunit eta%2C N-terminally processed |
| Q99832 | 261 | 324 | 320 | 320 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Q99832 | 261 | 324 | 282 | 283 | Sequence conflict | Note=HH->RQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99832 | 261 | 324 | 293 | 293 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99832 | 401 | 470 | 1 | 543 | Chain | ID=PRO_0000128365;Note=T-complex protein 1 subunit eta |
| Q99832 | 401 | 470 | 2 | 543 | Chain | ID=PRO_0000434391;Note=T-complex protein 1 subunit eta%2C N-terminally processed |
| Q99832 | 401 | 470 | 430 | 430 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| Q99832 | 401 | 470 | 407 | 407 | Sequence conflict | Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q99832 | 401 | 470 | 411 | 411 | Sequence conflict | Note=A->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for CCT7 |
- 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-DD-A3A0-01 | exon_skip_326528 | 73470132 | 73470257 | 73470157 | 73470157 | Frame_Shift_Del | C | - | p.T54fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_326535 | 73471672 | 73471843 | 73471802 | 73471802 | Frame_Shift_Del | A | - | p.K149fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_326535 | 73471672 | 73471843 | 73471802 | 73471802 | Frame_Shift_Del | A | - | p.L192fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_326536 | 73476119 | 73476307 | 73476214 | 73476214 | Frame_Shift_Del | C | - | p.L249fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_326536 | 73476119 | 73476307 | 73476221 | 73476221 | Frame_Shift_Del | G | - | p.G252fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_326543 | 73478354 | 73478560 | 73478437 | 73478437 | Frame_Shift_Del | A | - | p.G385fs |
| HNSC | TCGA-CN-4723-01 | exon_skip_326528 | 73470132 | 73470257 | 73470151 | 73470151 | Nonsense_Mutation | C | G | p.S52* |
| HNSC | TCGA-CN-4723-01 | exon_skip_326528 | 73470132 | 73470257 | 73470151 | 73470151 | Nonsense_Mutation | C | G | p.S96* |
| SKCM | TCGA-DA-A95Z-06 | exon_skip_326528 | 73470132 | 73470257 | 73470219 | 73470219 | Nonsense_Mutation | C | T | p.Q75* |
| KIRP | TCGA-A4-7583-01 | exon_skip_326535 | 73471672 | 73471843 | 73471796 | 73471796 | Nonsense_Mutation | C | T | p.Q147* |
| KIRP | TCGA-A4-7583-01 | exon_skip_326535 | 73471672 | 73471843 | 73471796 | 73471796 | Nonsense_Mutation | C | T | p.Q191* |
| SKCM | TCGA-FS-A1ZW-06 | exon_skip_326538 | 73476947 | 73477044 | 73477004 | 73477004 | Nonsense_Mutation | C | T | p.R300* |
| SKCM | TCGA-FS-A1ZW-06 | exon_skip_326538 | 73476947 | 73477044 | 73477004 | 73477004 | Nonsense_Mutation | C | T | p.R300X |
| LGG | TCGA-HT-7620-01 | exon_skip_326543 | 73478354 | 73478560 | 73478419 | 73478419 | Nonsense_Mutation | C | G | p.Y379* |
| LGG | TCGA-HT-7620-01 | exon_skip_326543 | 73478354 | 73478560 | 73478419 | 73478419 | Nonsense_Mutation | C | G | p.Y379X |
- 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 |
| OC316_OVARY | 73471672 | 73471843 | 73471784 | 73471785 | Frame_Shift_Del | GA | - | p.D188fs |
| OC314_OVARY | 73471672 | 73471843 | 73471784 | 73471785 | Frame_Shift_Del | GA | - | p.D188fs |
| SW948_LARGE_INTESTINE | 73470132 | 73470257 | 73470205 | 73470205 | Missense_Mutation | A | C | p.E114A |
| 769P_KIDNEY | 73470132 | 73470257 | 73470235 | 73470235 | Missense_Mutation | C | T | p.A124V |
| NCIH660_PROSTATE | 73471672 | 73471843 | 73471706 | 73471706 | Missense_Mutation | A | T | p.T161S |
| CW2_LARGE_INTESTINE | 73471672 | 73471843 | 73471709 | 73471709 | Missense_Mutation | G | A | p.A162T |
| HCC56_LARGE_INTESTINE | 73471672 | 73471843 | 73471709 | 73471709 | Missense_Mutation | G | A | p.A162T |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73471672 | 73471843 | 73471727 | 73471727 | Missense_Mutation | A | G | p.I168V |
| IGR39_SKIN | 73471672 | 73471843 | 73471772 | 73471772 | Missense_Mutation | G | T | p.V183L |
| IGR37_SKIN | 73471672 | 73471843 | 73471772 | 73471772 | Missense_Mutation | G | T | p.V183L |
| SW579_THYROID | 73471672 | 73471843 | 73471775 | 73471775 | Missense_Mutation | A | T | p.M184L |
| CGTHW1_THYROID | 73471672 | 73471843 | 73471775 | 73471775 | Missense_Mutation | A | T | p.M184L |
| NCC010_KIDNEY | 73476119 | 73476307 | 73476212 | 73476212 | Missense_Mutation | C | G | p.L293V |
| JHH2_LIVER | 73476119 | 73476307 | 73476257 | 73476257 | Missense_Mutation | A | G | p.M308V |
| SNUC2A_LARGE_INTESTINE | 73476119 | 73476307 | 73476279 | 73476279 | Missense_Mutation | C | A | p.P315H |
| SNUC2B_LARGE_INTESTINE | 73476119 | 73476307 | 73476279 | 73476279 | Missense_Mutation | C | A | p.P315H |
| KNS60_CENTRAL_NERVOUS_SYSTEM | 73476119 | 73476307 | 73476272 | 73476272 | Nonsense_Mutation | C | T | p.R313* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CCT7 |
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_326521 | 2 | 73466770:73466924:73467564:73467671:73470131:73470210 | 73467564:73467671 | ENST00000480489.1,ENST00000258091.5,ENST00000399032.2,ENST00000471927.1,ENST00000538797.1,ENST00000539919.1,ENST00000469844.1,ENST00000461290.1,ENST00000482064.1,ENST00000492253.1 | LGG | rs3835072 | chr2:73467676 | GAA/G | 1.02e-04 |
| exon_skip_326543 | 2 | 73477461:73477566:73478353:73478560:73479767:73480132 | 73478353:73478560 | ENST00000398422.2,ENST00000258091.5,ENST00000540468.1,ENST00000538797.1,ENST00000539919.1,ENST00000537131.1 | LGG | rs7851 | chr2:73478461 | A/T | 1.01e-04 |
| exon_skip_326543 | 2 | 73477461:73477566:73478353:73478560:73479767:73480132 | 73478353:73478560 | ENST00000398422.2,ENST00000258091.5,ENST00000540468.1,ENST00000538797.1,ENST00000539919.1,ENST00000537131.1 | STAD | rs7851 | chr2:73478461 | A/T | 1.28e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCT7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CCT7 |
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RelatedDrugs for CCT7 |
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 CCT7 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CCT7 | C0019693 | HIV Infections | 1 | CTD_human |
| CCT7 | C0038356 | Stomach Neoplasms | 1 | CTD_human |