|
||||||
|
 | |
| |
| |
| |
| 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 FZR1 |
 Gene summary |
| Gene information | Gene symbol | FZR1 | Gene ID | 51343 |
| Gene name | fizzy and cell division cycle 20 related 1 | |
| Synonyms | CDC20C|CDH1|FZR|FZR2|HCDH|HCDH1 | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | fizzy-related protein homologCDC20 homolog 1CDC20-like 1bCDC20-like protein 1cdh1/Hct1 homologfizzy/cell division cycle 20 related 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9UM11 | |
| Context | PubMed: FZR1 [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 |
| FZR1 | GO:0031145 | anaphase-promoting complex-dependent catabolic process | 18662541|21596315 |
| FZR1 | GO:0072425 | signal transduction involved in G2 DNA damage checkpoint | 18662541 |
| FZR1 | GO:1904668 | positive regulation of ubiquitin protein ligase activity | 11459826 |
Top |
Exon skipping events across known transcript of Ensembl for FZR1 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 FZR1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for FZR1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_300932 | 19 | 3506374:3506472:3522953:3523056:3525865:3525991 | 3522953:3523056 | ENSG00000105325.9 | ENST00000588327.1 |
| exon_skip_300936 | 19 | 3526977:3527060:3527628:3527812:3530789:3530855 | 3527628:3527812 | ENSG00000105325.9 | ENST00000395095.3,ENST00000441788.2,ENST00000592214.1,ENST00000591290.1 |
| exon_skip_300940 | 19 | 3531908:3532093:3532414:3532648:3533291:3533396 | 3532414:3532648 | ENSG00000105325.9 | ENST00000313639.8,ENST00000395095.3,ENST00000441788.2 |
| exon_skip_300941 | 19 | 3531908:3532093:3532574:3532648:3533291:3533396 | 3532574:3532648 | ENSG00000105325.9 | ENST00000591290.1 |
| exon_skip_300946 | 19 | 3532574:3532648:3533291:3533396:3534418:3534511 | 3533291:3533396 | ENSG00000105325.9 | ENST00000313639.8,ENST00000395095.3,ENST00000441788.2,ENST00000591290.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for FZR1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_300932 | 19 | 3506374:3506472:3522953:3523056:3525865:3525991 | 3522953:3523056 | ENSG00000105325.9 | ENST00000588327.1 |
| exon_skip_300936 | 19 | 3526977:3527060:3527628:3527812:3530789:3530855 | 3527628:3527812 | ENSG00000105325.9 | ENST00000441788.2,ENST00000591290.1,ENST00000395095.3,ENST00000592214.1 |
| exon_skip_300946 | 19 | 3532574:3532648:3533291:3533396:3534418:3534511 | 3533291:3533396 | ENSG00000105325.9 | ENST00000441788.2,ENST00000591290.1,ENST00000395095.3,ENST00000313639.8 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for FZR1 |
| 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 |
| ENST00000395095 | 3527628 | 3527812 | Frame-shift |
| ENST00000395095 | 3532414 | 3532648 | In-frame |
| ENST00000395095 | 3533291 | 3533396 | 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 |
| ENST00000395095 | 3527628 | 3527812 | Frame-shift |
| ENST00000395095 | 3533291 | 3533396 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for FZR1 |
| 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 |
| ENST00000395095 | 1508 | 496 | 3532414 | 3532648 | 1009 | 1242 | 336 | 414 |
| ENST00000395095 | 1508 | 496 | 3533291 | 3533396 | 1243 | 1347 | 414 | 449 |
| 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 |
| ENST00000395095 | 1508 | 496 | 3533291 | 3533396 | 1243 | 1347 | 414 | 449 |
| 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 |
Top |
SNVs in the skipped exons for FZR1 |
| - 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-A1EG-01 | exon_skip_300932 | 3522954 | 3523056 | 3523036 | 3523036 | Frame_Shift_Del | A | - | p.N17fs |
| ACC | TCGA-OR-A5J5-01 | exon_skip_300940 | 3532415 | 3532648 | 3532525 | 3532525 | Frame_Shift_Del | G | - | p.S373fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_300940 | 3532415 | 3532648 | 3532525 | 3532525 | Frame_Shift_Del | G | - | p.S373fs |
| STAD | TCGA-B7-A5TJ-01 | exon_skip_300940 | 3532415 | 3532648 | 3532525 | 3532525 | Frame_Shift_Del | G | - | p.S373fs |
| STAD | TCGA-HU-A4G9-01 | exon_skip_300940 | 3532415 | 3532648 | 3532525 | 3532525 | Frame_Shift_Del | G | - | p.S373fs |
| THYM | TCGA-ZB-A966-01 | exon_skip_300940 | 3532415 | 3532648 | 3532525 | 3532525 | Frame_Shift_Del | G | - | p.S373fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_300940 | 3532415 | 3532648 | 3532608 | 3532608 | Frame_Shift_Del | A | - | p.Q401fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_300941 | 3532575 | 3532648 | 3532608 | 3532608 | Frame_Shift_Del | A | - | p.Q401fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_300940 | 3532415 | 3532648 | 3532616 | 3532616 | Frame_Shift_Del | A | - | p.N404fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_300941 | 3532575 | 3532648 | 3532616 | 3532616 | Frame_Shift_Del | A | - | p.N404fs |
| SKCM | TCGA-FS-A4FD-06 | exon_skip_300940 | 3532415 | 3532648 | 3532524 | 3532525 | Frame_Shift_Ins | - | G | p.S373fs |
| SKCM | TCGA-FS-A4FD-06 | exon_skip_300940 | 3532415 | 3532648 | 3532524 | 3532525 | Frame_Shift_Ins | - | G | p.W373fs |
| LIHC | TCGA-G3-A7M8-01 | exon_skip_300940 | 3532415 | 3532648 | 3532454 | 3532454 | Nonsense_Mutation | C | T | p.Q350* |
| LIHC | TCGA-G3-A7M8-01 | exon_skip_300940 | 3532415 | 3532648 | 3532454 | 3532454 | Nonsense_Mutation | C | T | p.Q350X |
| - 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 |
| C33A_CERVIX | 3532415 | 3532648 | 3532525 | 3532525 | Frame_Shift_Del | G | - | p.S373fs |
| OC316_OVARY | 3532415 | 3532648 | 3532525 | 3532525 | Frame_Shift_Del | G | - | p.S373fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 3532415 | 3532648 | 3532525 | 3532525 | Frame_Shift_Del | G | - | p.S373fs |
| OC314_OVARY | 3532415 | 3532648 | 3532525 | 3532525 | Frame_Shift_Del | G | - | p.S373fs |
| HEC59_ENDOMETRIUM | 3527629 | 3527812 | 3527645 | 3527646 | Frame_Shift_Ins | - | C | p.S163fs |
| SW48_LARGE_INTESTINE | 3527629 | 3527812 | 3527645 | 3527646 | Frame_Shift_Ins | - | C | p.S163fs |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3522954 | 3523056 | 3523009 | 3523009 | Missense_Mutation | C | T | p.R8C |
| SLR20_KIDNEY | 3522954 | 3523056 | 3523027 | 3523027 | Missense_Mutation | G | A | p.V14I |
| RL952_ENDOMETRIUM | 3522954 | 3523056 | 3523046 | 3523046 | Missense_Mutation | C | T | p.T20M |
| HEC1_ENDOMETRIUM | 3532415 | 3532648 | 3532472 | 3532472 | Missense_Mutation | G | A | p.A356T |
| HEC1B_ENDOMETRIUM | 3532415 | 3532648 | 3532472 | 3532472 | Missense_Mutation | G | A | p.A356T |
| SNUC2A_LARGE_INTESTINE | 3532415 | 3532648 | 3532490 | 3532490 | Missense_Mutation | G | A | p.A362T |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3532415 | 3532648 | 3532490 | 3532490 | Missense_Mutation | G | A | p.A362T |
| SNUC2B_LARGE_INTESTINE | 3532415 | 3532648 | 3532490 | 3532490 | Missense_Mutation | G | A | p.A362T |
| AN3CA_ENDOMETRIUM | 3532415 | 3532648 | 3532511 | 3532511 | Missense_Mutation | G | A | p.G369R |
| SNUC4_LARGE_INTESTINE | 3532415 | 3532648 | 3532517 | 3532517 | Missense_Mutation | C | A | p.L371M |
| YD10B_UPPER_AERODIGESTIVE_TRACT | 3532415 | 3532648 | 3532526 | 3532526 | Missense_Mutation | G | C | p.G374R |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3532415 | 3532648 | 3532554 | 3532554 | Missense_Mutation | G | A | p.R383H |
| OCIMY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3532575 | 3532648 | 3532584 | 3532584 | Missense_Mutation | T | A | p.L393Q |
| OCIMY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3532415 | 3532648 | 3532584 | 3532584 | Missense_Mutation | T | A | p.L393Q |
| RL952_ENDOMETRIUM | 3532575 | 3532648 | 3532614 | 3532614 | Missense_Mutation | G | A | p.C403Y |
| RL952_ENDOMETRIUM | 3532415 | 3532648 | 3532614 | 3532614 | Missense_Mutation | G | A | p.C403Y |
| DIFI_LARGE_INTESTINE | 3533292 | 3533396 | 3533328 | 3533328 | Missense_Mutation | G | T | p.V427F |
| HEC265_ENDOMETRIUM | 3533292 | 3533396 | 3533338 | 3533338 | Missense_Mutation | A | G | p.Y430C |
| KOSC2_UPPER_AERODIGESTIVE_TRACT | 3533292 | 3533396 | 3533340 | 3533340 | Missense_Mutation | C | G | p.P431A |
| MCC13_SKIN | 3533292 | 3533396 | 3533344 | 3533344 | Missense_Mutation | C | T | p.S432F |
| MCC13_SKIN | 3533292 | 3533396 | 3533377 | 3533377 | Missense_Mutation | C | T | p.S443F |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 3533292 | 3533396 | 3533383 | 3533383 | Missense_Mutation | G | A | p.R445H |
| HEC1A_ENDOMETRIUM | 3533292 | 3533396 | 3533313 | 3533313 | Nonsense_Mutation | C | T | p.Q422* |
| WM983B_SKIN | 3522954 | 3523056 | 3523056 | 3523056 | Splice_Site | C | T | p.R23R |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FZR1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FZR1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FZR1 |
Top |
RelatedDrugs for FZR1 |
| 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 FZR1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FZR1 | C0032578 | Polyploidy | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|