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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 FRYL |
 Gene summary |
| Gene information | Gene symbol | FRYL | Gene ID | 285527 |
| Gene name | FRY like transcription coactivator | |
| Synonyms | AF4p12|KIAA0826|MOR2 | |
| Cytomap | 4p11 | |
| Type of gene | protein-coding | |
| Description | protein furry homolog-likeALL1-fused gene from chromosome 4p12 proteinFRY-likefurry homolog-likefurry-likemor2 cell polarity protein homolog | |
| Modification date | 20180523 | |
| UniProtAcc | O94915 | |
| Context | PubMed: FRYL [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 FRYL 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 FRYL |
| 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 FRYL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_429424 | 4 | 48502046:48502237:48503639:48503750:48507563:48507632 | 48503639:48503750 | ENSG00000075539.9 | ENST00000512810.1,ENST00000264319.7,ENST00000503339.1,ENST00000507873.2 |
| exon_skip_429427 | 4 | 48503639:48503750:48504844:48504862:48507563:48507632 | 48504844:48504862 | ENSG00000075539.9 | ENST00000358350.4,ENST00000503238.1 |
| exon_skip_429428 | 4 | 48503639:48503750:48507395:48507413:48507563:48507632 | 48507395:48507413 | ENSG00000075539.9 | ENST00000537810.1 |
| exon_skip_429429 | 4 | 48503639:48503750:48507563:48507632:48512075:48512174 | 48507563:48507632 | ENSG00000075539.9 | ENST00000512810.1,ENST00000264319.7,ENST00000507873.2 |
| exon_skip_429431 | 4 | 48517225:48517292:48523064:48523232:48524917:48525121 | 48523064:48523232 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000503238.1,ENST00000514617.1,ENST00000507873.2 |
| exon_skip_429432 | 4 | 48533317:48533370:48536561:48536702:48537673:48537844 | 48536561:48536702 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000503238.1,ENST00000513401.1,ENST00000514617.1,ENST00000507873.2,ENST00000512297.1 |
| exon_skip_429434 | 4 | 48537673:48537844:48541987:48542085:48542369:48542552 | 48541987:48542085 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000503238.1,ENST00000513401.1,ENST00000514617.1,ENST00000507873.2 |
| exon_skip_429435 | 4 | 48541987:48542085:48542369:48542977:48544043:48544138 | 48542369:48542977 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000503238.1,ENST00000513401.1,ENST00000514617.1,ENST00000507873.2 |
| exon_skip_429436 | 4 | 48545823:48546014:48546799:48546921:48548083:48548285 | 48546799:48546921 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000503238.1,ENST00000513401.1,ENST00000514617.1,ENST00000507873.2 |
| exon_skip_429437 | 4 | 48550706:48550810:48551489:48551640:48552608:48552721 | 48551489:48551640 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000503238.1,ENST00000514617.1,ENST00000507873.2,ENST00000502925.1 |
| exon_skip_429438 | 4 | 48553510:48553595:48555231:48555400:48558994:48559135 | 48555231:48555400 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000503238.1,ENST00000507711.1,ENST00000514617.1,ENST00000507873.2 |
| exon_skip_429439 | 4 | 48559469:48559729:48563484:48563653:48564905:48565005 | 48563484:48563653 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000503238.1,ENST00000507711.1,ENST00000514617.1 |
| exon_skip_429443 | 4 | 48592675:48592847:48595946:48596033:48597606:48597715 | 48595946:48596033 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000503238.1,ENST00000506685.1,ENST00000507711.1 |
| exon_skip_429445 | 4 | 48607757:48607850:48608454:48608623:48611003:48611084 | 48608454:48608623 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000503238.1,ENST00000507711.1 |
| exon_skip_429446 | 4 | 48611003:48611084:48611760:48611840:48621290:48621387 | 48611760:48611840 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000503238.1,ENST00000507711.1 |
| exon_skip_429447 | 4 | 48625142:48625196:48636307:48636507:48686689:48686812 | 48636307:48636507 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000507711.1 |
| exon_skip_429449 | 4 | 48636434:48636507:48686689:48686812:48712535:48712715 | 48686689:48686812 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000507711.1 |
| exon_skip_429450 | 4 | 48636434:48636507:48686689:48686812:48782094:48782146 | 48686689:48686812 | ENSG00000075539.9 | ENST00000502520.1 |
| exon_skip_429451 | 4 | 48636434:48636507:48712535:48712715:48782094:48782146 | 48712535:48712715 | ENSG00000075539.9 | ENST00000505437.1 |
| exon_skip_429453 | 4 | 48686689:48686812:48712535:48712715:48782094:48782146 | 48712535:48712715 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000507711.1 |
| exon_skip_429454 | 4 | 48712535:48712715:48729447:48729508:48782094:48782146 | 48729447:48729508 | ENSG00000075539.9 | ENST00000515684.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FRYL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_429424 | 4 | 48502046:48502237:48503639:48503750:48507563:48507632 | 48503639:48503750 | ENSG00000075539.9 | ENST00000264319.7,ENST00000507873.2,ENST00000503339.1,ENST00000512810.1 |
| exon_skip_429427 | 4 | 48503639:48503750:48504844:48504862:48507563:48507632 | 48504844:48504862 | ENSG00000075539.9 | ENST00000503238.1,ENST00000358350.4 |
| exon_skip_429429 | 4 | 48503639:48503750:48507563:48507632:48512075:48512174 | 48507563:48507632 | ENSG00000075539.9 | ENST00000264319.7,ENST00000507873.2,ENST00000512810.1 |
| exon_skip_429431 | 4 | 48517225:48517292:48523064:48523232:48524917:48525121 | 48523064:48523232 | ENSG00000075539.9 | ENST00000503238.1,ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000507873.2,ENST00000514617.1 |
| exon_skip_429432 | 4 | 48533317:48533370:48536561:48536702:48537673:48537844 | 48536561:48536702 | ENSG00000075539.9 | ENST00000503238.1,ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000507873.2,ENST00000514617.1,ENST00000513401.1,ENST00000512297.1 |
| exon_skip_429434 | 4 | 48537673:48537844:48541987:48542085:48542369:48542552 | 48541987:48542085 | ENSG00000075539.9 | ENST00000503238.1,ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000507873.2,ENST00000514617.1,ENST00000513401.1 |
| exon_skip_429435 | 4 | 48541987:48542085:48542369:48542977:48544043:48544138 | 48542369:48542977 | ENSG00000075539.9 | ENST00000503238.1,ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000507873.2,ENST00000514617.1,ENST00000513401.1 |
| exon_skip_429436 | 4 | 48545823:48546014:48546799:48546921:48548083:48548285 | 48546799:48546921 | ENSG00000075539.9 | ENST00000503238.1,ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000507873.2,ENST00000514617.1,ENST00000513401.1 |
| exon_skip_429437 | 4 | 48550706:48550810:48551489:48551640:48552608:48552721 | 48551489:48551640 | ENSG00000075539.9 | ENST00000503238.1,ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000507873.2,ENST00000514617.1,ENST00000502925.1 |
| exon_skip_429438 | 4 | 48553510:48553595:48555231:48555400:48558994:48559135 | 48555231:48555400 | ENSG00000075539.9 | ENST00000503238.1,ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000507873.2,ENST00000514617.1,ENST00000507711.1 |
| exon_skip_429439 | 4 | 48559469:48559729:48563484:48563653:48564905:48565005 | 48563484:48563653 | ENSG00000075539.9 | ENST00000503238.1,ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000514617.1,ENST00000507711.1 |
| exon_skip_429445 | 4 | 48607757:48607850:48608454:48608623:48611003:48611084 | 48608454:48608623 | ENSG00000075539.9 | ENST00000503238.1,ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000507711.1 |
| exon_skip_429446 | 4 | 48611003:48611084:48611760:48611840:48621290:48621387 | 48611760:48611840 | ENSG00000075539.9 | ENST00000503238.1,ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000507711.1 |
| exon_skip_429447 | 4 | 48625142:48625196:48636307:48636507:48686689:48686812 | 48636307:48636507 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000507711.1 |
| exon_skip_429449 | 4 | 48636434:48636507:48686689:48686812:48712535:48712715 | 48686689:48686812 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000507711.1 |
| exon_skip_429450 | 4 | 48636434:48636507:48686689:48686812:48782094:48782146 | 48686689:48686812 | ENSG00000075539.9 | ENST00000502520.1 |
| exon_skip_429451 | 4 | 48636434:48636507:48712535:48712715:48782094:48782146 | 48712535:48712715 | ENSG00000075539.9 | ENST00000505437.1 |
| exon_skip_429453 | 4 | 48686689:48686812:48712535:48712715:48782094:48782146 | 48712535:48712715 | ENSG00000075539.9 | ENST00000358350.4,ENST00000537810.1,ENST00000264319.7,ENST00000507711.1 |
| exon_skip_429454 | 4 | 48712535:48712715:48729447:48729508:48782094:48782146 | 48729447:48729508 | ENSG00000075539.9 | ENST00000515684.1 |
| 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 FRYL |
| 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 |
| ENST00000358350 | 48636307 | 48636507 | 3UTR-3CDS |
| ENST00000358350 | 48686689 | 48686812 | 3UTR-3UTR |
| ENST00000358350 | 48712535 | 48712715 | 3UTR-3UTR |
| ENST00000358350 | 48541987 | 48542085 | Frame-shift |
| ENST00000503238 | 48541987 | 48542085 | Frame-shift |
| ENST00000358350 | 48542369 | 48542977 | Frame-shift |
| ENST00000503238 | 48542369 | 48542977 | Frame-shift |
| ENST00000358350 | 48546799 | 48546921 | Frame-shift |
| ENST00000503238 | 48546799 | 48546921 | Frame-shift |
| ENST00000358350 | 48551489 | 48551640 | Frame-shift |
| ENST00000503238 | 48551489 | 48551640 | Frame-shift |
| ENST00000358350 | 48555231 | 48555400 | Frame-shift |
| ENST00000503238 | 48555231 | 48555400 | Frame-shift |
| ENST00000358350 | 48563484 | 48563653 | Frame-shift |
| ENST00000503238 | 48563484 | 48563653 | Frame-shift |
| ENST00000358350 | 48608454 | 48608623 | Frame-shift |
| ENST00000503238 | 48608454 | 48608623 | Frame-shift |
| ENST00000358350 | 48611760 | 48611840 | Frame-shift |
| ENST00000503238 | 48611760 | 48611840 | Frame-shift |
| ENST00000358350 | 48504844 | 48504862 | In-frame |
| ENST00000503238 | 48504844 | 48504862 | In-frame |
| ENST00000358350 | 48523064 | 48523232 | In-frame |
| ENST00000503238 | 48523064 | 48523232 | In-frame |
| ENST00000358350 | 48536561 | 48536702 | In-frame |
| ENST00000503238 | 48536561 | 48536702 | In-frame |
| ENST00000358350 | 48595946 | 48596033 | In-frame |
| ENST00000503238 | 48595946 | 48596033 | 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 |
| ENST00000358350 | 48636307 | 48636507 | 3UTR-3CDS |
| ENST00000358350 | 48686689 | 48686812 | 3UTR-3UTR |
| ENST00000358350 | 48712535 | 48712715 | 3UTR-3UTR |
| ENST00000358350 | 48541987 | 48542085 | Frame-shift |
| ENST00000503238 | 48541987 | 48542085 | Frame-shift |
| ENST00000358350 | 48542369 | 48542977 | Frame-shift |
| ENST00000503238 | 48542369 | 48542977 | Frame-shift |
| ENST00000358350 | 48546799 | 48546921 | Frame-shift |
| ENST00000503238 | 48546799 | 48546921 | Frame-shift |
| ENST00000358350 | 48551489 | 48551640 | Frame-shift |
| ENST00000503238 | 48551489 | 48551640 | Frame-shift |
| ENST00000358350 | 48555231 | 48555400 | Frame-shift |
| ENST00000503238 | 48555231 | 48555400 | Frame-shift |
| ENST00000358350 | 48563484 | 48563653 | Frame-shift |
| ENST00000503238 | 48563484 | 48563653 | Frame-shift |
| ENST00000358350 | 48608454 | 48608623 | Frame-shift |
| ENST00000503238 | 48608454 | 48608623 | Frame-shift |
| ENST00000358350 | 48611760 | 48611840 | Frame-shift |
| ENST00000503238 | 48611760 | 48611840 | Frame-shift |
| ENST00000358350 | 48504844 | 48504862 | In-frame |
| ENST00000503238 | 48504844 | 48504862 | In-frame |
| ENST00000358350 | 48523064 | 48523232 | In-frame |
| ENST00000503238 | 48523064 | 48523232 | In-frame |
| ENST00000358350 | 48536561 | 48536702 | In-frame |
| ENST00000503238 | 48536561 | 48536702 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FRYL |
| 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 |
| ENST00000358350 | 11723 | 3013 | 48595946 | 48596033 | 1854 | 1940 | 416 | 445 |
| ENST00000503238 | 11120 | 3013 | 48595946 | 48596033 | 1249 | 1335 | 416 | 445 |
| ENST00000358350 | 11723 | 3013 | 48536561 | 48536702 | 7170 | 7310 | 2188 | 2235 |
| ENST00000503238 | 11120 | 3013 | 48536561 | 48536702 | 6565 | 6705 | 2188 | 2235 |
| ENST00000358350 | 11723 | 3013 | 48523064 | 48523232 | 8127 | 8294 | 2507 | 2563 |
| ENST00000503238 | 11120 | 3013 | 48523064 | 48523232 | 7522 | 7689 | 2507 | 2563 |
| 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 |
| ENST00000358350 | 11723 | 3013 | 48536561 | 48536702 | 7170 | 7310 | 2188 | 2235 |
| ENST00000503238 | 11120 | 3013 | 48536561 | 48536702 | 6565 | 6705 | 2188 | 2235 |
| ENST00000358350 | 11723 | 3013 | 48523064 | 48523232 | 8127 | 8294 | 2507 | 2563 |
| ENST00000503238 | 11120 | 3013 | 48523064 | 48523232 | 7522 | 7689 | 2507 | 2563 |
| 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 |
| O94915 | 416 | 445 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 416 | 445 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 416 | 445 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 416 | 445 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 2188 | 2235 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2188 | 2235 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2188 | 2235 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 2188 | 2235 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 2507 | 2563 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2507 | 2563 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2507 | 2563 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 2507 | 2563 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| 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 |
| O94915 | 2188 | 2235 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2188 | 2235 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2188 | 2235 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 2188 | 2235 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 2507 | 2563 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2507 | 2563 | 1 | 2604 | Alternative sequence | ID=VSP_023038;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O94915 | 2507 | 2563 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
| O94915 | 2507 | 2563 | 2 | 3013 | Chain | ID=PRO_0000277619;Note=Protein furry homolog-like |
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SNVs in the skipped exons for FRYL |
| - 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_429424 | 48503640 | 48503750 | 48503650 | 48503650 | Frame_Shift_Del | T | - | p.N2861fs |
| LIHC | TCGA-DD-AADS-01 | exon_skip_429435 | 48542370 | 48542977 | 48542570 | 48542570 | Frame_Shift_Del | T | - | p.H2032fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_429435 | 48542370 | 48542977 | 48542652 | 48542652 | Frame_Shift_Del | A | - | p.W2005fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_429435 | 48542370 | 48542977 | 48542948 | 48542948 | Frame_Shift_Del | T | - | p.N1906fs |
| LIHC | TCGA-DD-A1EG-01 | 48546800 | 48546921 | 48546838 | 48546838 | Frame_Shift_Del | A | - | p.L1788fs | |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_429438 | 48555232 | 48555400 | 48555279 | 48555279 | Frame_Shift_Del | G | - | p.P1463fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_429438 | 48555232 | 48555400 | 48555279 | 48555279 | Frame_Shift_Del | G | - | p.P1463fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_429438 | 48555232 | 48555400 | 48555279 | 48555279 | Frame_Shift_Del | G | - | p.P1463fs |
| HNSC | TCGA-CR-5248-01 | exon_skip_429445 | 48608455 | 48608623 | 48608509 | 48608509 | Frame_Shift_Del | A | - | p.F229fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_429445 | 48608455 | 48608623 | 48608570 | 48608570 | Frame_Shift_Del | T | - | p.K209fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_429445 | 48608455 | 48608623 | 48608599 | 48608599 | Frame_Shift_Del | A | - | p.F199fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_429446 | 48611761 | 48611840 | 48611784 | 48611784 | Frame_Shift_Del | A | - | p.F156fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_429447 | 48636308 | 48636507 | 48636334 | 48636334 | Frame_Shift_Del | T | - | p.I32fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_429437 | 48551490 | 48551640 | 48551517 | 48551518 | Frame_Shift_Ins | - | T | p.V1586fs |
| LUAD | TCGA-50-5946-01 | exon_skip_429447 | 48636308 | 48636507 | 48636331 | 48636332 | Frame_Shift_Ins | - | A | p.S33fs |
| SKCM | TCGA-EE-A3JE-06 | exon_skip_429424 | 48503640 | 48503750 | 48503669 | 48503669 | Nonsense_Mutation | G | A | p.Q2855* |
| SKCM | TCGA-EE-A3JE-06 | exon_skip_429424 | 48503640 | 48503750 | 48503669 | 48503669 | Nonsense_Mutation | G | A | p.Q2855X |
| PAAD | TCGA-IB-7651-01 | exon_skip_429424 | 48503640 | 48503750 | 48503735 | 48503735 | Nonsense_Mutation | G | A | p.R2833* |
| PAAD | TCGA-IB-7651-01 | exon_skip_429424 | 48503640 | 48503750 | 48503735 | 48503735 | Nonsense_Mutation | G | A | p.R2833X |
| HNSC | TCGA-CV-7411-01 | exon_skip_429431 | 48523065 | 48523232 | 48523208 | 48523208 | Nonsense_Mutation | C | A | p.E2516* |
| UCEC | TCGA-D1-A15X-01 | exon_skip_429435 | 48542370 | 48542977 | 48542817 | 48542817 | Nonsense_Mutation | G | A | p.R1950* |
| PRAD | TCGA-EJ-7317-01 | exon_skip_429437 | 48551490 | 48551640 | 48551612 | 48551612 | Nonsense_Mutation | C | T | p.W1554* |
| PRAD | TCGA-EJ-7317-01 | exon_skip_429437 | 48551490 | 48551640 | 48551612 | 48551612 | Nonsense_Mutation | C | T | p.W1554X |
| THYM | TCGA-XH-A853-01 | exon_skip_429437 | 48551490 | 48551640 | 48551613 | 48551613 | Nonsense_Mutation | C | T | p.W1554X |
| COAD | TCGA-AZ-4315-01 | exon_skip_429445 | 48608455 | 48608623 | 48608583 | 48608583 | Nonsense_Mutation | C | A | p.E205X |
| ESCA | TCGA-JY-A939-01 | exon_skip_429447 | 48636308 | 48636507 | 48636316 | 48636316 | Nonsense_Mutation | C | A | p.E38* |
| ESCA | TCGA-JY-A939-01 | exon_skip_429447 | 48636308 | 48636507 | 48636316 | 48636316 | Nonsense_Mutation | C | A | p.E38X |
| GBM | TCGA-06-0686-01 | exon_skip_429424 | 48503640 | 48503750 | 48503638 | 48503638 | Splice_Site | A | C | p.E2864_splice |
| GBM | TCGA-32-1979-01 | exon_skip_429432 | 48536562 | 48536702 | 48536560 | 48536560 | Splice_Site | A | C | p.Q2235_splice |
| - 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 |
| NCIH727_LUNG | 48503640 | 48503750 | 48503649 | 48503650 | Frame_Shift_Ins | - | T | p.N2861fs |
| KM12_LARGE_INTESTINE | 48503640 | 48503750 | 48503645 | 48503645 | Missense_Mutation | C | T | p.A2863T |
| NCIH854_LUNG | 48503640 | 48503750 | 48503645 | 48503645 | Missense_Mutation | C | T | p.A2863T |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48503640 | 48503750 | 48503659 | 48503659 | Missense_Mutation | G | A | p.T2858M |
| SNU81_LARGE_INTESTINE | 48503640 | 48503750 | 48503659 | 48503659 | Missense_Mutation | G | A | p.T2858M |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 48523065 | 48523232 | 48523184 | 48523184 | Missense_Mutation | A | C | p.L2524V |
| KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48542370 | 48542977 | 48542424 | 48542424 | Missense_Mutation | T | C | p.S2081G |
| KY821_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48542370 | 48542977 | 48542457 | 48542457 | Missense_Mutation | C | T | p.A2070T |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48542370 | 48542977 | 48542543 | 48542543 | Missense_Mutation | C | T | p.R2041Q |
| SW837_LARGE_INTESTINE | 48542370 | 48542977 | 48542546 | 48542546 | Missense_Mutation | C | T | p.S2040N |
| HEC251_ENDOMETRIUM | 48542370 | 48542977 | 48542623 | 48542623 | Missense_Mutation | A | C | p.D2014E |
| HCC1195_LUNG | 48542370 | 48542977 | 48542643 | 48542643 | Missense_Mutation | C | G | p.A2008P |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48542370 | 48542977 | 48542664 | 48542664 | Missense_Mutation | C | T | p.A2001T |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48542370 | 48542977 | 48542697 | 48542697 | Missense_Mutation | C | T | p.V1990M |
| ESS1_ENDOMETRIUM | 48542370 | 48542977 | 48542721 | 48542721 | Missense_Mutation | G | T | p.L1982I |
| MC1010_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48542370 | 48542977 | 48542816 | 48542816 | Missense_Mutation | C | T | p.R1950Q |
| HEC251_ENDOMETRIUM | 48542370 | 48542977 | 48542852 | 48542852 | Missense_Mutation | C | A | p.R1938I |
| HCC2998_LARGE_INTESTINE | 48542370 | 48542977 | 48542877 | 48542877 | Missense_Mutation | A | C | p.Y1930D |
| HEC151_ENDOMETRIUM | 48542370 | 48542977 | 48542881 | 48542881 | Missense_Mutation | G | T | p.S1928R |
| NCIH2347_LUNG | 48542370 | 48542977 | 48542957 | 48542957 | Missense_Mutation | A | G | p.I1903T |
| M980513_SKIN | 48542370 | 48542977 | 48542967 | 48542967 | Missense_Mutation | G | A | p.H1900Y |
| LU139_LUNG | 48551490 | 48551640 | 48551592 | 48551592 | Missense_Mutation | T | C | p.H1561R |
| NCIH2172_LUNG | 48551490 | 48551640 | 48551619 | 48551619 | Missense_Mutation | G | C | p.S1552C |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 48555232 | 48555400 | 48555255 | 48555255 | Missense_Mutation | T | C | p.Y1471C |
| HEC108_ENDOMETRIUM | 48555232 | 48555400 | 48555277 | 48555277 | Missense_Mutation | A | G | p.Y1464H |
| HT115_LARGE_INTESTINE | 48555232 | 48555400 | 48555326 | 48555326 | Missense_Mutation | C | A | p.Q1447H |
| JHU029_UPPER_AERODIGESTIVE_TRACT | 48555232 | 48555400 | 48555372 | 48555372 | Missense_Mutation | C | T | p.R1432K |
| M14_SKIN | 48563485 | 48563653 | 48563496 | 48563496 | Missense_Mutation | G | A | p.A1285V |
| MDAMB435S_SKIN | 48563485 | 48563653 | 48563496 | 48563496 | Missense_Mutation | G | A | p.A1285V |
| RT112_URINARY_TRACT | 48563485 | 48563653 | 48563509 | 48563509 | Missense_Mutation | C | G | p.E1281Q |
| HEC1A_ENDOMETRIUM | 48563485 | 48563653 | 48563518 | 48563518 | Missense_Mutation | C | T | p.A1278T |
| CW2_LARGE_INTESTINE | 48563485 | 48563653 | 48563589 | 48563589 | Missense_Mutation | A | T | p.L1254H |
| HCC2998_LARGE_INTESTINE | 48595947 | 48596033 | 48595969 | 48595969 | Missense_Mutation | T | G | p.K438T |
| SNU175_LARGE_INTESTINE | 48608455 | 48608623 | 48608555 | 48608555 | Missense_Mutation | T | G | p.H214P |
| IALM_LUNG | 48608455 | 48608623 | 48608576 | 48608576 | Missense_Mutation | C | T | p.R207Q |
| KGN_OVARY | 48608455 | 48608623 | 48608606 | 48608606 | Missense_Mutation | T | C | p.K197R |
| CAL39_VULVA | 48611761 | 48611840 | 48611782 | 48611782 | Missense_Mutation | T | A | p.K157M |
| EW11_BONE | 48611761 | 48611840 | 48611819 | 48611819 | Missense_Mutation | C | T | p.D145N |
| CAR1_LARGE_INTESTINE | 48611761 | 48611840 | 48611828 | 48611828 | Missense_Mutation | G | A | p.P142S |
| JHUEM7_ENDOMETRIUM | 48595947 | 48596033 | 48596009 | 48596009 | Nonsense_Mutation | C | A | p.E425* |
| HT115_LARGE_INTESTINE | 48608455 | 48608623 | 48608592 | 48608592 | Nonsense_Mutation | C | A | p.E202* |
| RCC10RGB_KIDNEY | 48608455 | 48608623 | 48608592 | 48608592 | Nonsense_Mutation | C | A | p.E202* |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48504845 | 48504862 | 48504845 | 48504845 | Splice_Site | T | C | p.A2827A |
| DMS53_LUNG | 48507564 | 48507632 | 48507631 | 48507631 | Splice_Site | C | T | p.W2799* |
| HCC2450_LUNG | 48551490 | 48551640 | 48551490 | 48551490 | Splice_Site | C | A | p.R1595M |
| RKO_LARGE_INTESTINE | 48551490 | 48551640 | 48551490 | 48551490 | Splice_Site | C | A | p.R1595M |
| HEC108_ENDOMETRIUM | 48563485 | 48563653 | 48563486 | 48563486 | Splice_Site | T | C | p.S1288S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FRYL |
| 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 FRYL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FRYL |
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RelatedDrugs for FRYL |
| 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 FRYL |
| 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)
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