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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 IZUMO4 |
 Gene summary |
| Gene information | Gene symbol | IZUMO4 | Gene ID | 113177 |
| Gene name | IZUMO family member 4 | |
| Synonyms | C19orf36|IMAGE:4215339 | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | izumo sperm-egg fusion protein 4putative SAMP14 binding protein variant 1putative SAMP14 binding protein variant 2sperm 22 kDa protein c113 | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for IZUMO4 |
| 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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ENSG00000099840
| 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 | DOWN | ENST00000593185.1 | IZUMO4-211:retained_intron:IZUMO4 | 1.910000e+01 | -1.677975e+00 | 8.770447e-12 | 8.763268e-10 |
| CB | DOWN | ENST00000395296.5 | IZUMO4-201:protein_coding:IZUMO4 | 7.757264e+01 | -8.268854e-01 | 4.261242e-10 | 2.164729e-08 |
| CB | DOWN | ENST00000395301.7 | IZUMO4-202:protein_coding:IZUMO4 | 2.116329e+01 | -1.427469e+00 | 1.891717e-09 | 7.400776e-08 |
| CB | DOWN | ENST00000395307.6 | IZUMO4-203:protein_coding:IZUMO4 | 2.491741e+01 | -8.230889e-01 | 1.780972e-08 | 4.930456e-07 |
| CB | UP | ENST00000497445.5 | IZUMO4-206:retained_intron:IZUMO4 | 6.134614e+01 | 8.741427e-01 | 2.283096e-05 | 2.117357e-04 |
| CB | DOWN | ENST00000498554.5 | IZUMO4-207:retained_intron:IZUMO4 | 3.970962e+00 | -9.368438e-01 | 1.196500e-04 | 8.618930e-04 |
| TC | DOWN | ENST00000593185.1 | IZUMO4-211:retained_intron:IZUMO4 | 1.428844e+01 | -2.143171e+00 | 2.667056e-11 | 6.362805e-09 |
| TC | DOWN | ENST00000395301.7 | IZUMO4-202:protein_coding:IZUMO4 | 3.423376e+01 | -8.275370e-01 | 3.660052e-06 | 1.158461e-04 |
| 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 IZUMO4 |
| 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_10971 | chr19 | 2097929:2097955:2098052:2098127:2098287:2098334 | 2098052:2098127 |
| exon_skip_167648 | chr19 | 2098287:2098334:2098436:2098450:2099255:2099580 | 2098436:2098450 |
| exon_skip_186720 | chr19 | 2098437:2098450:2098787:2098804:2099255:2099580 | 2098787:2098804 |
| exon_skip_214174 | chr19 | 2097424:2097495:2097929:2097955:2098287:2098334 | 2097929:2097955 |
| exon_skip_215479 | chr19 | 2097424:2097495:2097929:2098127:2098287:2098334 | 2097929:2098127 |
| exon_skip_241328 | chr19 | 2098436:2098450:2098787:2098804:2099255:2099580 | 2098787:2098804 |
| exon_skip_265398 | chr19 | 2098787:2098804:2098976:2099029:2099255:2099580 | 2098976:2099029 |
| exon_skip_285505 | chr19 | 2097424:2097495:2097929:2097955:2098052:2098127 | 2097929:2097955 |
| exon_skip_67048 | chr19 | 2097424:2097495:2097585:2097812:2097929:2097955 | 2097585:2097812 |
| exon_skip_68480 | chr19 | 2097424:2097495:2098052:2098127:2098287:2098334 | 2098052:2098127 |
| exon_skip_69031 | chr19 | 2098436:2098450:2098787:2098804:2098976:2099086 | 2098787:2098804 |
| exon_skip_91344 | chr19 | 2098287:2098334:2098436:2098450:2098787:2098804 | 2098436:2098450 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_265398 | Mayo_TC | 3.088312e-01 | 4.354054e-01 | -1.265742e-01 | 2.506718e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for IZUMO4 |
| 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 |
| ENST00000395301 | 2098052 | 2098127 | Frame-shift |
| ENST00000395301 | 2097929 | 2097955 | In-frame |
| ENST00000395301 | 2098436 | 2098450 | In-frame |
| ENST00000395301 | 2098976 | 2099029 | 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 |
| ENST00000395301 | 2098052 | 2098127 | Frame-shift |
| ENST00000395301 | 2098976 | 2099029 | 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 |
| ENST00000395301 | 2098052 | 2098127 | Frame-shift |
| ENST00000395301 | 2097929 | 2097955 | In-frame |
| ENST00000395301 | 2098436 | 2098450 | In-frame |
| ENST00000395301 | 2098787 | 2098804 | In-frame |
| ENST00000395301 | 2098976 | 2099029 | In-frame |
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Infer the effects of exon skipping event on protein functional features for IZUMO4 |
p-ENSG00000099840_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 |
| ENST00000395301 | 1038 | 232 | 2098976 | 2099029 | 633 | 685 | 185 | 202 |
| 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 |
| ENST00000395301 | 1038 | 232 | 2098976 | 2099029 | 633 | 685 | 185 | 202 |
| 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 |
| ENST00000395301 | 1038 | 232 | 2098976 | 2099029 | 633 | 685 | 185 | 202 |
| 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 |
| Q1ZYL8 | 185 | 202 | 158 | 232 | Alternative sequence | ID=VSP_023148;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| Q1ZYL8 | 185 | 202 | 159 | 232 | Alternative sequence | ID=VSP_023149;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q1ZYL8 | 185 | 202 | 185 | 203 | Alternative sequence | ID=VSP_023150;Note=In isoform 2. RPRSSAFSWPGTHRATPAF->S;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.1,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| Q1ZYL8 | 185 | 202 | 16 | 232 | Chain | ID=PRO_0000278186;Note=Izumo sperm-egg fusion protein 4 |
| 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 |
| Q1ZYL8 | 185 | 202 | 158 | 232 | Alternative sequence | ID=VSP_023148;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| Q1ZYL8 | 185 | 202 | 159 | 232 | Alternative sequence | ID=VSP_023149;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q1ZYL8 | 185 | 202 | 185 | 203 | Alternative sequence | ID=VSP_023150;Note=In isoform 2. RPRSSAFSWPGTHRATPAF->S;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.1,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| Q1ZYL8 | 185 | 202 | 16 | 232 | Chain | ID=PRO_0000278186;Note=Izumo sperm-egg fusion protein 4 |
| 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 |
| Q1ZYL8 | 185 | 202 | 158 | 232 | Alternative sequence | ID=VSP_023148;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| Q1ZYL8 | 185 | 202 | 159 | 232 | Alternative sequence | ID=VSP_023149;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q1ZYL8 | 185 | 202 | 185 | 203 | Alternative sequence | ID=VSP_023150;Note=In isoform 2. RPRSSAFSWPGTHRATPAF->S;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|Ref.1,ECO:0000303|Ref.2;Dbxref=PMID:15489334 |
| Q1ZYL8 | 185 | 202 | 16 | 232 | Chain | ID=PRO_0000278186;Note=Izumo sperm-egg fusion protein 4 |
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3'-UTR located exon skipping events that lost miRNA binding sites in IZUMO4 |
| 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 IZUMO4 |
| - 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 IZUMO4 |
| 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 IZUMO4 |
| 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 IZUMO4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | DAZAP1 | exon_skip_67048 | 4.703325e-01 | 3.964009e-10 |
| CB | TARDBP | exon_skip_67048 | 5.304412e-01 | 6.422622e-13 |
| CB | RBM6 | exon_skip_67048 | 4.596868e-01 | 1.092031e-09 |
| CB | CNOT4 | exon_skip_67048 | 5.561867e-01 | 2.717986e-14 |
| CB | PCBP1 | exon_skip_67048 | 4.602297e-01 | 1.037905e-09 |
| CB | PCBP4 | exon_skip_67048 | -5.368680e-01 | 2.990375e-13 |
| CB | TRA2A | exon_skip_67048 | 5.449793e-01 | 1.113141e-13 |
| CB | HNRNPA2B1 | exon_skip_67048 | 5.631869e-01 | 1.096511e-14 |
| CB | RBM45 | exon_skip_67048 | -6.032721e-01 | 3.916335e-17 |
| CB | EIF4G2 | exon_skip_67048 | 4.364222e-01 | 8.891801e-09 |
| CB | RBM23 | exon_skip_67048 | 4.569257e-01 | 1.412337e-09 |
| CB | HNRNPF | exon_skip_67048 | 4.474961e-01 | 3.341941e-09 |
| CB | RBM4 | exon_skip_67048 | 7.430936e-01 | 3.475995e-29 |
| CB | RBM4B | exon_skip_67048 | 5.070597e-01 | 9.083850e-12 |
| CB | CNOT4 | exon_skip_265398 | -4.116537e-01 | 2.469415e-06 |
| CB | PCBP4 | exon_skip_265398 | 4.690008e-01 | 5.074527e-08 |
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RelatedDrugs for IZUMO4 |
| 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 IZUMO4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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