|
||||||
|
 | |
| |
| |
| |
| 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 FBXL13 |
 Gene summary |
| Gene information | Gene symbol | FBXL13 | Gene ID | 222235 |
| Gene name | F-box and leucine rich repeat protein 13 | |
| Synonyms | DRC6|Fbl13 | |
| Cytomap | 7q22.1 | |
| Type of gene | protein-coding | |
| Description | dynein regulatory complex subunit 6F-box/LRR-repeat protein 13 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8NEE6 | |
| Context | PubMed: FBXL13 [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 |
Top |
Exon skipping events across known transcript of Ensembl for FBXL13 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 FBXL13 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for FBXL13 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_478635 | 7 | 102453721:102453978:102462486:102462650:102495223:102495307 | 102462486:102462650 | ENSG00000161040.12 | ENST00000379308.3,ENST00000455112.2 |
| exon_skip_478637 | 7 | 102462486:102462650:102462829:102462887:102495223:102495307 | 102462829:102462887 | ENSG00000161040.12 | ENST00000448002.2 |
| exon_skip_478638 | 7 | 102462486:102462650:102473286:102473421:102495223:102495307 | 102473286:102473421 | ENSG00000161040.12 | ENST00000313221.4,ENST00000436908.1 |
| exon_skip_478639 | 7 | 102462486:102462650:102473286:102473421:102517913:102518040 | 102473286:102473421 | ENSG00000161040.12 | ENST00000393772.2,ENST00000379305.3 |
| exon_skip_478641 | 7 | 102462486:102462650:102495223:102495307:102517913:102518040 | 102495223:102495307 | ENSG00000161040.12 | ENST00000379308.3,ENST00000455112.2 |
| exon_skip_478642 | 7 | 102473286:102473421:102495223:102495307:102517913:102518040 | 102495223:102495307 | ENSG00000161040.12 | ENST00000313221.4,ENST00000436908.1 |
| exon_skip_478643 | 7 | 102495223:102495307:102517913:102518040:102518777:102518897 | 102517913:102518040 | ENSG00000161040.12 | ENST00000313221.4,ENST00000379308.3,ENST00000436908.1,ENST00000455112.2,ENST00000448002.2 |
| exon_skip_478645 | 7 | 102524018:102524132:102524660:102524759:102553532:102553662 | 102524660:102524759 | ENSG00000161040.12 | ENST00000313221.4,ENST00000379308.3,ENST00000477915.1,ENST00000436908.1,ENST00000393772.2,ENST00000455112.2,ENST00000379305.3,ENST00000448002.2 |
| exon_skip_478646 | 7 | 102566729:102566821:102572327:102572380:102603979:102604112 | 102572327:102572380 | ENSG00000161040.12 | ENST00000313221.4,ENST00000379308.3,ENST00000456695.1,ENST00000436908.1,ENST00000379306.3,ENST00000393772.2,ENST00000455112.2,ENST00000379305.3,ENST00000448002.2 |
| exon_skip_478648 | 7 | 102566729:102566821:102603979:102604112:102608468:102608564 | 102603979:102604112 | ENSG00000161040.12 | ENST00000477915.1 |
| exon_skip_478649 | 7 | 102572327:102572380:102603979:102604112:102608468:102608564 | 102603979:102604112 | ENSG00000161040.12 | ENST00000313221.4,ENST00000379308.3,ENST00000456695.1,ENST00000436908.1,ENST00000379306.3,ENST00000393772.2,ENST00000455112.2,ENST00000379305.3,ENST00000448002.2 |
| exon_skip_478650 | 7 | 102667895:102668005:102669046:102669195:102669797:102669865 | 102669046:102669195 | ENSG00000161040.12 | ENST00000313221.4,ENST00000379308.3,ENST00000456695.1,ENST00000436908.1,ENST00000379306.3,ENST00000393772.2,ENST00000440067.1,ENST00000455112.2,ENST00000379305.3,ENST00000448002.2 |
| exon_skip_478651 | 7 | 102669797:102669865:102687255:102687467:102696090:102696194 | 102687255:102687467 | ENSG00000161040.12 | ENST00000471074.1 |
| exon_skip_478652 | 7 | 102669797:102669865:102695534:102695625:102696090:102696194 | 102695534:102695625 | ENSG00000161040.12 | ENST00000440067.1,ENST00000448002.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for FBXL13 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_478635 | 7 | 102453721:102453978:102462486:102462650:102495223:102495307 | 102462486:102462650 | ENSG00000161040.12 | ENST00000379308.3,ENST00000455112.2 |
| exon_skip_478637 | 7 | 102462486:102462650:102462829:102462887:102495223:102495307 | 102462829:102462887 | ENSG00000161040.12 | ENST00000448002.2 |
| exon_skip_478638 | 7 | 102462486:102462650:102473286:102473421:102495223:102495307 | 102473286:102473421 | ENSG00000161040.12 | ENST00000436908.1,ENST00000313221.4 |
| exon_skip_478639 | 7 | 102462486:102462650:102473286:102473421:102517913:102518040 | 102473286:102473421 | ENSG00000161040.12 | ENST00000393772.2,ENST00000379305.3 |
| exon_skip_478641 | 7 | 102462486:102462650:102495223:102495307:102517913:102518040 | 102495223:102495307 | ENSG00000161040.12 | ENST00000379308.3,ENST00000455112.2 |
| exon_skip_478642 | 7 | 102473286:102473421:102495223:102495307:102517913:102518040 | 102495223:102495307 | ENSG00000161040.12 | ENST00000436908.1,ENST00000313221.4 |
| exon_skip_478643 | 7 | 102495223:102495307:102517913:102518040:102518777:102518897 | 102517913:102518040 | ENSG00000161040.12 | ENST00000379308.3,ENST00000448002.2,ENST00000436908.1,ENST00000313221.4,ENST00000455112.2 |
| exon_skip_478645 | 7 | 102524018:102524132:102524660:102524759:102553532:102553662 | 102524660:102524759 | ENSG00000161040.12 | ENST00000393772.2,ENST00000379308.3,ENST00000379305.3,ENST00000448002.2,ENST00000436908.1,ENST00000313221.4,ENST00000455112.2,ENST00000477915.1 |
| exon_skip_478646 | 7 | 102566729:102566821:102572327:102572380:102603979:102604112 | 102572327:102572380 | ENSG00000161040.12 | ENST00000393772.2,ENST00000379308.3,ENST00000379306.3,ENST00000379305.3,ENST00000448002.2,ENST00000436908.1,ENST00000313221.4,ENST00000456695.1,ENST00000455112.2 |
| exon_skip_478648 | 7 | 102566729:102566821:102603979:102604112:102608468:102608564 | 102603979:102604112 | ENSG00000161040.12 | ENST00000477915.1 |
| exon_skip_478649 | 7 | 102572327:102572380:102603979:102604112:102608468:102608564 | 102603979:102604112 | ENSG00000161040.12 | ENST00000393772.2,ENST00000379308.3,ENST00000379306.3,ENST00000379305.3,ENST00000448002.2,ENST00000436908.1,ENST00000313221.4,ENST00000456695.1,ENST00000455112.2 |
| exon_skip_478650 | 7 | 102667895:102668005:102669046:102669195:102669797:102669865 | 102669046:102669195 | ENSG00000161040.12 | ENST00000393772.2,ENST00000379308.3,ENST00000379306.3,ENST00000379305.3,ENST00000448002.2,ENST00000436908.1,ENST00000313221.4,ENST00000456695.1,ENST00000455112.2,ENST00000440067.1 |
| exon_skip_478651 | 7 | 102669797:102669865:102687255:102687467:102696090:102696194 | 102687255:102687467 | ENSG00000161040.12 | ENST00000471074.1 |
| exon_skip_478652 | 7 | 102669797:102669865:102695534:102695625:102696090:102696194 | 102695534:102695625 | ENSG00000161040.12 | ENST00000448002.2,ENST00000440067.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for FBXL13 |
| 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 |
| ENST00000313221 | 102517913 | 102518040 | Frame-shift |
| ENST00000436908 | 102517913 | 102518040 | Frame-shift |
| ENST00000313221 | 102572327 | 102572380 | Frame-shift |
| ENST00000436908 | 102572327 | 102572380 | Frame-shift |
| ENST00000313221 | 102603979 | 102604112 | Frame-shift |
| ENST00000436908 | 102603979 | 102604112 | Frame-shift |
| ENST00000313221 | 102669046 | 102669195 | Frame-shift |
| ENST00000436908 | 102669046 | 102669195 | Frame-shift |
| ENST00000313221 | 102473286 | 102473421 | In-frame |
| ENST00000436908 | 102473286 | 102473421 | In-frame |
| ENST00000313221 | 102495223 | 102495307 | In-frame |
| ENST00000436908 | 102495223 | 102495307 | In-frame |
| ENST00000313221 | 102524660 | 102524759 | In-frame |
| ENST00000436908 | 102524660 | 102524759 | 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 |
| ENST00000313221 | 102517913 | 102518040 | Frame-shift |
| ENST00000436908 | 102517913 | 102518040 | Frame-shift |
| ENST00000313221 | 102572327 | 102572380 | Frame-shift |
| ENST00000436908 | 102572327 | 102572380 | Frame-shift |
| ENST00000313221 | 102603979 | 102604112 | Frame-shift |
| ENST00000436908 | 102603979 | 102604112 | Frame-shift |
| ENST00000313221 | 102669046 | 102669195 | Frame-shift |
| ENST00000436908 | 102669046 | 102669195 | Frame-shift |
| ENST00000313221 | 102473286 | 102473421 | In-frame |
| ENST00000436908 | 102473286 | 102473421 | In-frame |
| ENST00000313221 | 102495223 | 102495307 | In-frame |
| ENST00000436908 | 102495223 | 102495307 | In-frame |
| ENST00000313221 | 102524660 | 102524759 | In-frame |
| ENST00000436908 | 102524660 | 102524759 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for FBXL13 |
| 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 |
| ENST00000313221 | 2761 | 735 | 102524660 | 102524759 | 1436 | 1534 | 336 | 369 |
| ENST00000436908 | 2594 | 735 | 102524660 | 102524759 | 1269 | 1367 | 336 | 369 |
| ENST00000313221 | 2761 | 735 | 102495223 | 102495307 | 2063 | 2146 | 545 | 573 |
| ENST00000436908 | 2594 | 735 | 102495223 | 102495307 | 1896 | 1979 | 545 | 573 |
| ENST00000313221 | 2761 | 735 | 102473286 | 102473421 | 2147 | 2281 | 573 | 618 |
| ENST00000436908 | 2594 | 735 | 102473286 | 102473421 | 1980 | 2114 | 573 | 618 |
| 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 |
| ENST00000313221 | 2761 | 735 | 102524660 | 102524759 | 1436 | 1534 | 336 | 369 |
| ENST00000436908 | 2594 | 735 | 102524660 | 102524759 | 1269 | 1367 | 336 | 369 |
| ENST00000313221 | 2761 | 735 | 102495223 | 102495307 | 2063 | 2146 | 545 | 573 |
| ENST00000436908 | 2594 | 735 | 102495223 | 102495307 | 1896 | 1979 | 545 | 573 |
| ENST00000313221 | 2761 | 735 | 102473286 | 102473421 | 2147 | 2281 | 573 | 618 |
| ENST00000436908 | 2594 | 735 | 102473286 | 102473421 | 1980 | 2114 | 573 | 618 |
| 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 FBXL13 |
| - 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-G3-A3CJ-01 | exon_skip_478635 | 102462487 | 102462650 | 102462491 | 102462491 | Frame_Shift_Del | A | - | p.S644fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_478635 | 102462487 | 102462650 | 102462531 | 102462531 | Frame_Shift_Del | T | - | p.K630fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_478635 | 102462487 | 102462650 | 102462595 | 102462595 | Frame_Shift_Del | A | - | p.L609fs |
| KIRC | TCGA-BP-5010-01 | exon_skip_478643 | 102517914 | 102518040 | 102517966 | 102517966 | Frame_Shift_Del | T | - | p.N528fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_478650 | 102669047 | 102669195 | 102669143 | 102669143 | Frame_Shift_Del | T | - | p.M41fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_478650 | 102669047 | 102669195 | 102669163 | 102669163 | Frame_Shift_Del | T | - | p.N34fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_478650 | 102669047 | 102669195 | 102669163 | 102669163 | Frame_Shift_Del | T | - | p.N34fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_478650 | 102669047 | 102669195 | 102669163 | 102669163 | Frame_Shift_Del | T | - | p.N34fs |
| COAD | TCGA-AA-A00J-01 | exon_skip_478650 | 102669047 | 102669195 | 102669142 | 102669143 | Frame_Shift_Ins | - | T | p.M41fs |
| PAAD | TCGA-HZ-7289-01 | exon_skip_478643 | 102517914 | 102518040 | 102518012 | 102518012 | Nonsense_Mutation | G | A | p.R513* |
| STAD | TCGA-BR-4368-01 | exon_skip_478643 | 102517914 | 102518040 | 102518012 | 102518012 | Nonsense_Mutation | G | A | p.R513* |
| STAD | TCGA-BR-4368-01 | exon_skip_478643 | 102517914 | 102518040 | 102518012 | 102518012 | Nonsense_Mutation | G | A | p.R513X |
| UCEC | TCGA-AP-A05N-01 | exon_skip_478643 | 102517914 | 102518040 | 102518012 | 102518012 | Nonsense_Mutation | G | A | p.R513* |
| UCEC | TCGA-D1-A17H-01 | exon_skip_478643 | 102517914 | 102518040 | 102518012 | 102518012 | Nonsense_Mutation | G | A | p.R513* |
| STAD | TCGA-BR-8365-01 | exon_skip_478646 | 102572328 | 102572380 | 102572363 | 102572363 | Nonsense_Mutation | G | A | p.Q248* |
| STAD | TCGA-BR-8365-01 | exon_skip_478646 | 102572328 | 102572380 | 102572363 | 102572363 | Nonsense_Mutation | G | A | p.Q248X |
| LGG | TCGA-TQ-A7RH-01 | exon_skip_478648 exon_skip_478649 | 102603980 | 102604112 | 102604004 | 102604004 | Nonsense_Mutation | G | A | p.R234* |
| UVM | TCGA-V4-A9EV-01 | exon_skip_478650 | 102669047 | 102669195 | 102669190 | 102669190 | Nonsense_Mutation | C | T | p.W25* |
| - 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 |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 102462487 | 102462650 | 102462624 | 102462625 | Frame_Shift_Ins | - | A | p.L627fs |
| SNU398_LIVER | 102524661 | 102524759 | 102524676 | 102524677 | Frame_Shift_Ins | - | A | p.T364fs |
| MEWO_SKIN | 102462487 | 102462650 | 102462573 | 102462573 | Missense_Mutation | C | A | p.L644F |
| TGBC11TKB_STOMACH | 102473287 | 102473421 | 102473307 | 102473307 | Missense_Mutation | T | C | p.S612G |
| COLO684_ENDOMETRIUM | 102473287 | 102473421 | 102473336 | 102473336 | Missense_Mutation | G | A | p.A602V |
| HCC1569_BREAST | 102517914 | 102518040 | 102517942 | 102517942 | Missense_Mutation | T | C | p.D536G |
| EN_ENDOMETRIUM | 102517914 | 102518040 | 102517985 | 102517985 | Missense_Mutation | C | T | p.G522R |
| LXF289_LUNG | 102572328 | 102572380 | 102572345 | 102572345 | Missense_Mutation | C | T | p.D254N |
| SW756_CERVIX | 102572328 | 102572380 | 102572355 | 102572355 | Missense_Mutation | C | G | p.L250F |
| GP5D_LARGE_INTESTINE | 102572328 | 102572380 | 102572377 | 102572377 | Missense_Mutation | T | C | p.H243R |
| JHH6_LIVER | 102603980 | 102604112 | 102604019 | 102604019 | Missense_Mutation | G | A | p.R229C |
| SW48_LARGE_INTESTINE | 102603980 | 102604112 | 102604031 | 102604031 | Missense_Mutation | G | A | p.R225C |
| NCIH2731_PLEURA | 102603980 | 102604112 | 102604039 | 102604039 | Missense_Mutation | T | C | p.N222S |
| NCIH2030_LUNG | 102603980 | 102604112 | 102604061 | 102604061 | Missense_Mutation | T | C | p.T215A |
| IGR1_SKIN | 102603980 | 102604112 | 102604102 | 102604102 | Missense_Mutation | G | A | p.S201F |
| NCIH748_LUNG | 102669047 | 102669195 | 102669065 | 102669065 | Missense_Mutation | G | T | p.Q67K |
| HOS_BONE | 102669047 | 102669195 | 102669146 | 102669146 | Missense_Mutation | T | C | p.K40E |
| IPC298_SKIN | 102669047 | 102669195 | 102669158 | 102669158 | Missense_Mutation | C | T | p.V36I |
| HUO3N1_BONE | 102669047 | 102669195 | 102669176 | 102669176 | Missense_Mutation | G | A | p.R30C |
| NCIH630_LARGE_INTESTINE | 102517914 | 102518040 | 102518012 | 102518012 | Nonsense_Mutation | G | A | p.R513* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FBXL13 |
| 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 FBXL13 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FBXL13 |
Top |
RelatedDrugs for FBXL13 |
| 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 FBXL13 |
| 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)
|