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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 CHRFAM7A |
 Gene summary |
| Gene information | Gene symbol | CHRFAM7A | Gene ID | 89832 |
| Gene name | CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion | |
| Synonyms | CHRNA7|CHRNA7-DR1|D-10 | |
| Cytomap | 15q13.2 | |
| Type of gene | protein-coding | |
| Description | CHRNA7-FAM7A fusion proteinCHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusionCHRNA7 (cholinergic receptor, nicotinic, alpha polypeptide 7, exons 5-10) and FAM7A (family with seq | |
| Modification date | 20180523 | |
| UniProtAcc | Q494W8 | |
| Context | PubMed: CHRFAM7A [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 CHRFAM7A 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 CHRFAM7A |
| 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 CHRFAM7A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_125702 | 15 | 30654260:30655014:30659620:30659730:30663300:30663387 | 30659620:30659730 | ENSG00000166664.9 | ENST00000397827.3,ENST00000401522.3,ENST00000299847.2 |
| exon_skip_125704 | 15 | 30659620:30659730:30663300:30663387:30664349:30664544 | 30663300:30663387 | ENSG00000166664.9 | ENST00000397827.3,ENST00000401522.3,ENST00000299847.2 |
| exon_skip_125705 | 15 | 30669232:30669312:30672555:30672602:30679065:30679190 | 30672555:30672602 | ENSG00000166664.9 | ENST00000397827.3,ENST00000567722.1 |
| exon_skip_125706 | 15 | 30672555:30672602:30673905:30674079:30675521:30675585 | 30673905:30674079 | ENSG00000166664.9 | ENST00000401522.3 |
| exon_skip_125707 | 15 | 30672555:30672602:30675521:30675585:30679065:30679190 | 30675521:30675585 | ENSG00000166664.9 | ENST00000562729.1,ENST00000299847.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CHRFAM7A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_125702 | 15 | 30654260:30655014:30659620:30659730:30663300:30663387 | 30659620:30659730 | ENSG00000166664.9 | ENST00000397827.3,ENST00000299847.2,ENST00000401522.3 |
| exon_skip_125704 | 15 | 30659620:30659730:30663300:30663387:30664349:30664544 | 30663300:30663387 | ENSG00000166664.9 | ENST00000397827.3,ENST00000299847.2,ENST00000401522.3 |
| exon_skip_125706 | 15 | 30672555:30672602:30673905:30674079:30675521:30675585 | 30673905:30674079 | ENSG00000166664.9 | ENST00000401522.3 |
| exon_skip_125707 | 15 | 30672555:30672602:30675521:30675585:30679065:30679190 | 30675521:30675585 | ENSG00000166664.9 | ENST00000299847.2,ENST00000562729.1 |
| 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 CHRFAM7A |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for CHRFAM7A |
| 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 |
| 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 |
| 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 CHRFAM7A |
| - 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 |
| KICH | TCGA-KO-8404-01 | exon_skip_125702 | 30659621 | 30659730 | 30659650 | 30659651 | Frame_Shift_Ins | - | G | p.H230fs |
| SKCM | TCGA-EE-A3AE-06 | exon_skip_125702 | 30659621 | 30659730 | 30659728 | 30659728 | Nonsense_Mutation | G | A | p.Q114* |
| - 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 |
| SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30663301 | 30663387 | 30663366 | 30663367 | Frame_Shift_Del | AG | - | p.L182fs |
| EN_ENDOMETRIUM | 30675522 | 30675585 | 30675524 | 30675525 | Frame_Shift_Ins | - | A | p.Q11fs |
| FADU_UPPER_AERODIGESTIVE_TRACT | 30659621 | 30659730 | 30659649 | 30659649 | Missense_Mutation | T | C | p.D231G |
| HEC108_ENDOMETRIUM | 30659621 | 30659730 | 30659685 | 30659685 | Missense_Mutation | A | G | p.V219A |
| KM12_LARGE_INTESTINE | 30663301 | 30663387 | 30663342 | 30663342 | Missense_Mutation | G | A | p.A190V |
| AN3CA_ENDOMETRIUM | 30663301 | 30663387 | 30663381 | 30663381 | Missense_Mutation | G | A | p.T177I |
| RKO_LARGE_INTESTINE | 30675522 | 30675585 | 30675545 | 30675545 | Missense_Mutation | A | T | p.Y4N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHRFAM7A |
| 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 CHRFAM7A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHRFAM7A |
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RelatedDrugs for CHRFAM7A |
| 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 CHRFAM7A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CHRFAM7A | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| CHRFAM7A | C0036341 | Schizophrenia | 1 | PSYGENET |
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