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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 CYFIP2 |
 Gene summary |
| Gene information | Gene symbol | CYFIP2 | Gene ID | 26999 |
| Gene name | cytoplasmic FMR1 interacting protein 2 | |
| Synonyms | PIR121 | |
| Cytomap | 5q33.3 | |
| Type of gene | protein-coding | |
| Description | cytoplasmic FMR1-interacting protein 2p53-inducible protein 121 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96F07 | |
| Context | PubMed: CYFIP2 [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 |
| CYFIP2 | GO:0006915 | apoptotic process | 10449408 |
| CYFIP2 | GO:0045862 | positive regulation of proteolysis | 18387192 |
| CYFIP2 | GO:0097202 | activation of cysteine-type endopeptidase activity | 18387192 |
| CYFIP2 | GO:0098609 | cell-cell adhesion | 15048733 |
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Exon skipping events across known transcript of Ensembl for CYFIP2 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 CYFIP2 |
| 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 CYFIP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_439178 | 5 | 156714027:156714117:156715620:156715668:156721791:156721867 | 156715620:156715668 | ENSG00000055163.14 | ENST00000517850.1 |
| exon_skip_439179 | 5 | 156714027:156714117:156721791:156721868:156723680:156723782 | 156721791:156721868 | ENSG00000055163.14 | ENST00000519252.1,ENST00000523119.1,ENST00000517753.1,ENST00000522423.1,ENST00000523969.1,ENST00000519002.1,ENST00000520759.1,ENST00000520419.1,ENST00000442283.2,ENST00000519153.1 |
| exon_skip_439182 | 5 | 156723689:156723782:156727722:156727904:156729801:156729898 | 156727722:156727904 | ENSG00000055163.14 | ENST00000347377.6,ENST00000377576.3,ENST00000541131.1,ENST00000519252.1,ENST00000517753.1,ENST00000522423.1,ENST00000523969.1,ENST00000521420.1,ENST00000519002.1,ENST00000520759.1,ENST00000517850.1,ENST00000442283.2,ENST00000318218.6,ENST00000519153.1 |
| exon_skip_439183 | 5 | 156731257:156731374:156734768:156734873:156736750:156736842 | 156734768:156734873 | ENSG00000055163.14 | ENST00000347377.6,ENST00000377576.3,ENST00000541131.1,ENST00000517753.1,ENST00000523969.1,ENST00000521420.1,ENST00000520759.1,ENST00000442283.2,ENST00000318218.6,ENST00000519153.1 |
| exon_skip_439187 | 5 | 156747662:156747810:156749949:156750024:156750928:156751082 | 156749949:156750024 | ENSG00000055163.14 | ENST00000523969.1,ENST00000435847.2,ENST00000318218.6 |
| exon_skip_439190 | 5 | 156750928:156751082:156751778:156751908:156752489:156752646 | 156751778:156751908 | ENSG00000055163.14 | ENST00000520960.1 |
| exon_skip_439193 | 5 | 156753178:156753275:156754980:156755057:156757749:156757858 | 156754980:156755057 | ENSG00000055163.14 | ENST00000347377.6,ENST00000377576.3,ENST00000541131.1,ENST00000522463.1,ENST00000523119.1,ENST00000517753.1,ENST00000523969.1,ENST00000521420.1,ENST00000520759.1,ENST00000435847.2,ENST00000442283.2,ENST00000318218.6,ENST00000519153.1 |
| exon_skip_439197 | 5 | 156809597:156809670:156810272:156810367:156816196:156816435 | 156810272:156810367 | ENSG00000055163.14 | ENST00000347377.6,ENST00000377576.3,ENST00000541131.1,ENST00000522463.1,ENST00000523119.1,ENST00000517753.1,ENST00000523969.1,ENST00000521420.1,ENST00000520759.1,ENST00000435847.2,ENST00000442283.2,ENST00000318218.6,ENST00000519153.1 |
| exon_skip_439200 | 5 | 156816196:156816435:156817528:156817676:156819840:156820215 | 156817528:156817676 | ENSG00000055163.14 | ENST00000347377.6,ENST00000377576.3,ENST00000541131.1,ENST00000522463.1,ENST00000523119.1,ENST00000517753.1,ENST00000523969.1,ENST00000521420.1,ENST00000519663.1,ENST00000520759.1,ENST00000523383.1,ENST00000435847.2,ENST00000442283.2,ENST00000318218.6,ENS |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CYFIP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_439178 | 5 | 156714027:156714117:156715620:156715668:156721791:156721867 | 156715620:156715668 | ENSG00000055163.14 | ENST00000517850.1 |
| exon_skip_439179 | 5 | 156714027:156714117:156721791:156721868:156723680:156723782 | 156721791:156721868 | ENSG00000055163.14 | ENST00000523969.1,ENST00000520759.1,ENST00000442283.2,ENST00000523119.1,ENST00000519002.1,ENST00000519252.1,ENST00000520419.1,ENST00000522423.1,ENST00000519153.1,ENST00000517753.1 |
| exon_skip_439182 | 5 | 156723689:156723782:156727722:156727904:156729801:156729898 | 156727722:156727904 | ENSG00000055163.14 | ENST00000523969.1,ENST00000520759.1,ENST00000318218.6,ENST00000442283.2,ENST00000521420.1,ENST00000519002.1,ENST00000519252.1,ENST00000347377.6,ENST00000522423.1,ENST00000519153.1,ENST00000377576.3,ENST00000517850.1,ENST00000517753.1,ENST00000541131.1 |
| exon_skip_439183 | 5 | 156731257:156731374:156734768:156734873:156736750:156736842 | 156734768:156734873 | ENSG00000055163.14 | ENST00000523969.1,ENST00000520759.1,ENST00000318218.6,ENST00000442283.2,ENST00000521420.1,ENST00000347377.6,ENST00000519153.1,ENST00000377576.3,ENST00000517753.1,ENST00000541131.1 |
| exon_skip_439187 | 5 | 156747662:156747810:156749949:156750024:156750928:156751082 | 156749949:156750024 | ENSG00000055163.14 | ENST00000523969.1,ENST00000318218.6,ENST00000435847.2 |
| exon_skip_439190 | 5 | 156750928:156751082:156751778:156751908:156752489:156752646 | 156751778:156751908 | ENSG00000055163.14 | ENST00000520960.1 |
| exon_skip_439193 | 5 | 156753178:156753275:156754980:156755057:156757749:156757858 | 156754980:156755057 | ENSG00000055163.14 | ENST00000523969.1,ENST00000520759.1,ENST00000318218.6,ENST00000442283.2,ENST00000522463.1,ENST00000523119.1,ENST00000521420.1,ENST00000347377.6,ENST00000519153.1,ENST00000377576.3,ENST00000517753.1,ENST00000541131.1,ENST00000435847.2 |
| exon_skip_439197 | 5 | 156809597:156809670:156810272:156810367:156816196:156816435 | 156810272:156810367 | ENSG00000055163.14 | ENST00000523969.1,ENST00000520759.1,ENST00000318218.6,ENST00000442283.2,ENST00000522463.1,ENST00000523119.1,ENST00000521420.1,ENST00000347377.6,ENST00000519153.1,ENST00000377576.3,ENST00000517753.1,ENST00000541131.1,ENST00000435847.2 |
| exon_skip_439200 | 5 | 156816196:156816435:156817528:156817676:156819840:156820215 | 156817528:156817676 | ENSG00000055163.14 | ENST00000523969.1,ENST00000520759.1,ENST00000318218.6,ENST00000442283.2,ENST00000522463.1,ENST00000523119.1,ENST00000521420.1,ENST00000347377.6,ENST00000519153.1,ENST00000377576.3,ENST00000517753.1,ENST00000541131.1,ENST00000435847.2,ENST00000523383.1,ENS |
| 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 CYFIP2 |
| 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 CYFIP2 |
| 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 CYFIP2 |
| - 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-DD-A1EG-01 | exon_skip_439200 | 156817529 | 156817676 | 156817599 | 156817599 | Frame_Shift_Del | T | - | p.F1173fs |
| BRCA | TCGA-A2-A0YD-01 | exon_skip_439200 | 156817529 | 156817676 | 156817668 | 156817671 | Frame_Shift_Del | AAGA | - | p.K1196fs |
| BLCA | TCGA-ZF-A9RL-01 | exon_skip_439179 | 156721792 | 156721868 | 156721804 | 156721804 | Nonsense_Mutation | G | T | p.E74* |
| SARC | TCGA-IW-A3M5-01 | exon_skip_439197 | 156810273 | 156810367 | 156810368 | 156810368 | Splice_Site | G | A | e29+1 |
| - 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 |
| MHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 156721792 | 156721868 | 156721865 | 156721866 | Frame_Shift_Ins | - | T | p.K95fs |
| TCCSUP_URINARY_TRACT | 156721792 | 156721868 | 156721795 | 156721795 | Missense_Mutation | G | A | p.E71K |
| BT20_BREAST | 156727723 | 156727904 | 156727735 | 156727735 | Missense_Mutation | G | A | p.E108K |
| CW2_LARGE_INTESTINE | 156734769 | 156734873 | 156734793 | 156734793 | Missense_Mutation | A | C | p.M248L |
| HCC2450_LUNG | 156734769 | 156734873 | 156734821 | 156734821 | Missense_Mutation | A | T | p.K257I |
| LB373EBV_MATCHED_NORMAL_TISSUE | 156749950 | 156750024 | 156749984 | 156749984 | Missense_Mutation | C | A | p.P569H |
| MZ1PC_PANCREAS | 156754981 | 156755057 | 156755036 | 156755036 | Missense_Mutation | A | T | p.Y686F |
| NCIH2196_LUNG | 156810273 | 156810367 | 156810275 | 156810275 | Missense_Mutation | G | A | p.G1013R |
| CW2_LARGE_INTESTINE | 156810273 | 156810367 | 156810302 | 156810302 | Missense_Mutation | C | T | p.R1022C |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 156810273 | 156810367 | 156810308 | 156810308 | Missense_Mutation | G | A | p.E1024K |
| EN_ENDOMETRIUM | 156810273 | 156810367 | 156810359 | 156810359 | Missense_Mutation | A | G | p.T1041A |
| PK59_PANCREAS | 156817529 | 156817676 | 156817596 | 156817596 | Missense_Mutation | C | T | p.R1146C |
| SBC5_LUNG | 156727723 | 156727904 | 156727750 | 156727750 | Nonsense_Mutation | G | T | p.E113* |
| MDAMB415_BREAST | 156727723 | 156727904 | 156727724 | 156727724 | Splice_Site | G | A | p.R104H |
| RERFLCFM_LUNG | 156810273 | 156810367 | 156810367 | 156810367 | Splice_Site | G | A | p.Q1043Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CYFIP2 |
| 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_439178 | 5 | 156714027:156714117:156715620:156715668:156721791:156721867 | 156715620:156715668 | ENST00000517850.1 | LGG | rs11747736 | chr5:156715652 | G/C | 9.73e-07 |
| exon_skip_439178 | 5 | 156714027:156714117:156715620:156715668:156721791:156721867 | 156715620:156715668 | ENST00000517850.1 | LGG | rs11747736 | chr5:156715652 | G/C | 2.57e-06 |
| exon_skip_439178 | 5 | 156714027:156714117:156715620:156715668:156721791:156721867 | 156715620:156715668 | ENST00000517850.1 | KIRC | rs11747736 | chr5:156715652 | G/C | 1.43e-13 |
| exon_skip_439178 | 5 | 156714027:156714117:156715620:156715668:156721791:156721867 | 156715620:156715668 | ENST00000517850.1 | KIRC | rs11747736 | chr5:156715652 | G/C | 2.60e-08 |
| exon_skip_439178 | 5 | 156714027:156714117:156715620:156715668:156721791:156721867 | 156715620:156715668 | ENST00000517850.1 | KIRC | rs11747736 | chr5:156715652 | G/C | 1.13e-03 |
| exon_skip_439178 | 5 | 156714027:156714117:156715620:156715668:156721791:156721867 | 156715620:156715668 | ENST00000517850.1 | KIRC | rs11747736 | chr5:156715652 | G/C | 1.63e-03 |
| exon_skip_439178 | 5 | 156714027:156714117:156715620:156715668:156721791:156721867 | 156715620:156715668 | ENST00000517850.1 | LIHC | rs11747736 | chr5:156715652 | G/C | 1.62e-03 |
| exon_skip_439190 | 5 | 156750928:156751082:156751778:156751908:156752489:156752646 | 156751778:156751908 | ENST00000520960.1 | KIRC | rs11748354 | chr5:156751844 | G/A | 6.79e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CYFIP2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CYFIP2 |
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RelatedDrugs for CYFIP2 |
| 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 CYFIP2 |
| 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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