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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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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 | EIEE65|PIR121 | |
| Cytomap | 5q33.3 | |
| Type of gene | protein-coding | |
| Description | cytoplasmic FMR1-interacting protein 2p53-inducible protein 121 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 27524794(Alzheimer-related decrease in CYFIP2 links amyloid production to tau hyperphosphorylation and memory loss) |
| 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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Gene structures and expression levels for CYFIP2 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000055163
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000611075.4 | CYFIP2-217:protein_coding:CYFIP2 | 1.291352e+02 | 9.710251e-01 | 1.695009e-10 | 9.847142e-09 |
| CB | UP | ENST00000522463.5 | CYFIP2-210:protein_coding:CYFIP2 | 9.614996e+01 | 5.963122e+00 | 1.366738e-07 | 2.769380e-06 |
| CB | UP | ENST00000617629.4 | CYFIP2-220:protein_coding:CYFIP2 | 2.076452e+01 | 9.826676e-01 | 2.713990e-07 | 4.944027e-06 |
| CB | UP | ENST00000616178.4 | CYFIP2-219:protein_coding:CYFIP2 | 3.206137e+02 | 1.052593e+00 | 4.644600e-06 | 5.503089e-05 |
| CB | DOWN | ENST00000521420.5 | CYFIP2-209:protein_coding:CYFIP2 | 1.117503e+03 | -8.674819e-01 | 6.108347e-06 | 6.939710e-05 |
| CB | UP | ENST00000618329.4 | CYFIP2-221:protein_coding:CYFIP2 | 1.276403e+01 | 1.948421e+00 | 6.426530e-05 | 5.086913e-04 |
| CB | UP | ENST00000520424.1 | CYFIP2-206:retained_intron:CYFIP2 | 6.415534e+00 | 1.732611e+00 | 3.017366e-04 | 1.882668e-03 |
| CB | UP | ENST00000435847.6 | CYFIP2-201:protein_coding:CYFIP2 | 3.204489e+01 | 1.711731e+00 | 3.273708e-03 | 1.386560e-02 |
| TC | DOWN | ENST00000521420.5 | CYFIP2-209:protein_coding:CYFIP2 | 6.662196e+02 | -8.197317e-01 | 1.334254e-03 | 1.230455e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CYFIP2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_109145 | chr5 | 157304250:157304366:157307761:157307865:157309743:157309834 | 157307761:157307865 |
| exon_skip_110084 | chr5 | 157323921:157324074:157324771:157324900:157325482:157325638 | 157324771:157324900 |
| exon_skip_135804 | chr5 | 157287019:157287108:157294783:157294860:157296673:157296774 | 157294783:157294860 |
| exon_skip_138156 | chr5 | 157302794:157302890:157304250:157304366:157307761:157307864 | 157304250:157304366 |
| exon_skip_15167 | chr5 | 157324031:157324074:157324771:157324900:157325482:157325638 | 157324771:157324900 |
| exon_skip_155673 | chr5 | 157311664:157311781:157314344:157314463:157314969:157315094 | 157314344:157314463 |
| exon_skip_15839 | chr5 | 157389189:157389427:157390521:157390668:157392833:157392960 | 157390521:157390668 |
| exon_skip_160845 | chr5 | 157326171:157326267:157327973:157328049:157330742:157330850 | 157327973:157328049 |
| exon_skip_208763 | chr5 | 157287019:157287108:157288612:157288659:157294783:157294860 | 157288612:157288659 |
| exon_skip_224059 | chr5 | 157325485:157325638:157326171:157326267:157327973:157328010 | 157326171:157326267 |
| exon_skip_233420 | chr5 | 157323961:157324074:157324771:157324900:157325482:157325638 | 157324771:157324900 |
| exon_skip_239528 | chr5 | 157320655:157320802:157322942:157323016:157323921:157324071 | 157322942:157323016 |
| exon_skip_239529 | chr5 | 157302794:157302890:157304238:157304366:157307761:157307864 | 157304238:157304366 |
| exon_skip_248290 | chr5 | 157389189:157389427:157390521:157390668:157392833:157392859 | 157390521:157390668 |
| exon_skip_284390 | chr5 | 157287019:157287108:157296673:157296774:157300715:157300893 | 157296673:157296774 |
| exon_skip_290109 | chr5 | 157296673:157296774:157300715:157300896:157302794:157302890 | 157300715:157300896 |
| exon_skip_292230 | chr5 | 157320655:157320802:157322942:157323016:157323921:157323947 | 157322942:157323016 |
| exon_skip_38808 | chr5 | 157307761:157307865:157309743:157309834:157311664:157311781 | 157309743:157309834 |
| exon_skip_55701 | chr5 | 157320655:157320802:157322942:157323016:157323921:157324074 | 157322942:157323016 |
| exon_skip_57695 | chr5 | 157359005:157359148:157360282:157360372:157361468:157361598 | 157360282:157360372 |
| exon_skip_84341 | chr5 | 157389189:157389427:157390521:157390668:157392833:157393207 | 157390521:157390668 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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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 ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000616178 | 157309743 | 157309834 | Frame-shift |
| ENST00000616178 | 157390521 | 157390668 | Frame-shift |
| ENST00000616178 | 157294783 | 157294860 | In-frame |
| ENST00000616178 | 157304238 | 157304366 | In-frame |
| ENST00000616178 | 157307761 | 157307865 | In-frame |
| ENST00000616178 | 157314344 | 157314463 | In-frame |
| ENST00000616178 | 157322942 | 157323016 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000616178 | 157300715 | 157300896 | Frame-shift |
| ENST00000616178 | 157309743 | 157309834 | Frame-shift |
| ENST00000616178 | 157390521 | 157390668 | Frame-shift |
| ENST00000616178 | 157294783 | 157294860 | In-frame |
| ENST00000616178 | 157322942 | 157323016 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000616178 | 157326171 | 157326267 | Frame-shift |
| ENST00000616178 | 157327973 | 157328049 | Frame-shift |
| ENST00000616178 | 157360282 | 157360372 | Frame-shift |
| ENST00000616178 | 157390521 | 157390668 | Frame-shift |
| ENST00000616178 | 157294783 | 157294860 | In-frame |
| ENST00000616178 | 157304238 | 157304366 | In-frame |
| ENST00000616178 | 157314344 | 157314463 | In-frame |
| ENST00000616178 | 157322942 | 157323016 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CYFIP2 |
p-ENSG00000055163_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000616178 | 4227 | 1278 | 157294783 | 157294860 | 349 | 425 | 69 | 95 |
| ENST00000616178 | 4227 | 1278 | 157304238 | 157304366 | 808 | 935 | 222 | 265 |
| ENST00000616178 | 4227 | 1278 | 157307761 | 157307865 | 937 | 1040 | 265 | 300 |
| ENST00000616178 | 4227 | 1278 | 157314344 | 157314463 | 1252 | 1370 | 370 | 410 |
| ENST00000616178 | 4227 | 1278 | 157322942 | 157323016 | 1813 | 1886 | 557 | 582 |
| Loci of skipped exons in MSBB 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 |
| ENST00000616178 | 4227 | 1278 | 157294783 | 157294860 | 349 | 425 | 69 | 95 |
| ENST00000616178 | 4227 | 1278 | 157322942 | 157323016 | 1813 | 1886 | 557 | 582 |
| Loci of skipped exons in Mayo 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 |
| ENST00000616178 | 4227 | 1278 | 157294783 | 157294860 | 349 | 425 | 69 | 95 |
| ENST00000616178 | 4227 | 1278 | 157304238 | 157304366 | 808 | 935 | 222 | 265 |
| ENST00000616178 | 4227 | 1278 | 157314344 | 157314463 | 1252 | 1370 | 370 | 410 |
| ENST00000616178 | 4227 | 1278 | 157322942 | 157323016 | 1813 | 1886 | 557 | 582 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q96F07 | 69 | 95 | 1 | 1278 | Chain | ID=PRO_0000279709;Note=Cytoplasmic FMR1-interacting protein 2 |
| Q96F07 | 69 | 95 | 87 | 87 | Natural variant | ID=VAR_080817;Note=In EIEE65. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29534297;Dbxref=PMID:29534297 |
| Q96F07 | 69 | 95 | 87 | 87 | Natural variant | ID=VAR_080818;Note=In EIEE65. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29534297;Dbxref=PMID:29534297 |
| Q96F07 | 69 | 95 | 87 | 87 | Natural variant | ID=VAR_080819;Note=In EIEE65. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29534297;Dbxref=PMID:29534297 |
| Q96F07 | 222 | 265 | 1 | 1278 | Chain | ID=PRO_0000279709;Note=Cytoplasmic FMR1-interacting protein 2 |
| Q96F07 | 265 | 300 | 1 | 1278 | Chain | ID=PRO_0000279709;Note=Cytoplasmic FMR1-interacting protein 2 |
| Q96F07 | 370 | 410 | 1 | 1278 | Chain | ID=PRO_0000279709;Note=Cytoplasmic FMR1-interacting protein 2 |
| Q96F07 | 557 | 582 | 558 | 582 | Alternative sequence | ID=VSP_052349;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10449408,ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:10449408,PMID:11230166,PMID:15489334 |
| Q96F07 | 557 | 582 | 1 | 1278 | Chain | ID=PRO_0000279709;Note=Cytoplasmic FMR1-interacting protein 2 |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q96F07 | 69 | 95 | 1 | 1278 | Chain | ID=PRO_0000279709;Note=Cytoplasmic FMR1-interacting protein 2 |
| Q96F07 | 69 | 95 | 87 | 87 | Natural variant | ID=VAR_080817;Note=In EIEE65. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29534297;Dbxref=PMID:29534297 |
| Q96F07 | 69 | 95 | 87 | 87 | Natural variant | ID=VAR_080818;Note=In EIEE65. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29534297;Dbxref=PMID:29534297 |
| Q96F07 | 69 | 95 | 87 | 87 | Natural variant | ID=VAR_080819;Note=In EIEE65. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29534297;Dbxref=PMID:29534297 |
| Q96F07 | 557 | 582 | 558 | 582 | Alternative sequence | ID=VSP_052349;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10449408,ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:10449408,PMID:11230166,PMID:15489334 |
| Q96F07 | 557 | 582 | 1 | 1278 | Chain | ID=PRO_0000279709;Note=Cytoplasmic FMR1-interacting protein 2 |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q96F07 | 69 | 95 | 1 | 1278 | Chain | ID=PRO_0000279709;Note=Cytoplasmic FMR1-interacting protein 2 |
| Q96F07 | 69 | 95 | 87 | 87 | Natural variant | ID=VAR_080817;Note=In EIEE65. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29534297;Dbxref=PMID:29534297 |
| Q96F07 | 69 | 95 | 87 | 87 | Natural variant | ID=VAR_080818;Note=In EIEE65. R->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29534297;Dbxref=PMID:29534297 |
| Q96F07 | 69 | 95 | 87 | 87 | Natural variant | ID=VAR_080819;Note=In EIEE65. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29534297;Dbxref=PMID:29534297 |
| Q96F07 | 222 | 265 | 1 | 1278 | Chain | ID=PRO_0000279709;Note=Cytoplasmic FMR1-interacting protein 2 |
| Q96F07 | 370 | 410 | 1 | 1278 | Chain | ID=PRO_0000279709;Note=Cytoplasmic FMR1-interacting protein 2 |
| Q96F07 | 557 | 582 | 558 | 582 | Alternative sequence | ID=VSP_052349;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10449408,ECO:0000303|PubMed:11230166,ECO:0000303|PubMed:15489334;Dbxref=PMID:10449408,PMID:11230166,PMID:15489334 |
| Q96F07 | 557 | 582 | 1 | 1278 | Chain | ID=PRO_0000279709;Note=Cytoplasmic FMR1-interacting protein 2 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CYFIP2 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for CYFIP2 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for CYFIP2 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CYFIP2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for CYFIP2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| FL | ELAVL4 | exon_skip_55701 | 4.147054e-01 | 1.245943e-09 |
| IFG | ELAVL1 | exon_skip_55701 | -4.631609e-01 | 1.306136e-02 |
| PCC | ELAVL4 | exon_skip_239528 | 4.248190e-01 | 9.622605e-11 |
| PG | ELAVL4 | exon_skip_239528 | 5.757468e-01 | 7.106226e-19 |
| PG | RALYL | exon_skip_239528 | 5.143676e-01 | 9.097156e-15 |
| STG | ELAVL4 | exon_skip_239528 | 5.220742e-01 | 8.008213e-08 |
| STG | RALYL | exon_skip_239528 | 4.215614e-01 | 2.573065e-05 |
| TC | ELAVL4 | exon_skip_292230 | 7.159380e-01 | 1.948822e-26 |
| TC | RALYL | exon_skip_292230 | 6.833420e-01 | 2.390598e-23 |
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RelatedDrugs for CYFIP2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| 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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