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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 FAM114A2 |
 Gene summary |
| Gene information | Gene symbol | FAM114A2 | Gene ID | 10827 |
| Gene name | family with sequence similarity 114 member A2 | |
| Synonyms | 133K02|C5orf3 | |
| Cytomap | 5q33.2 | |
| Type of gene | protein-coding | |
| Description | protein FAM114A2testis tissue sperm-binding protein Li 81P | |
| 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 FAM114A2 |
| 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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ENSG00000055147
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 FAM114A2 |
| 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_123640 | chr5 | 154002847:154002969:154011241:154011320:154026399:154026522 | 154011241:154011320 |
| exon_skip_131968 | chr5 | 154034744:154034967:154038388:154038434:154038857:154038880 | 154038388:154038434 |
| exon_skip_139287 | chr5 | 154034908:154034967:154038293:154038434:154038827:154038910 | 154038293:154038434 |
| exon_skip_170822 | chr5 | 154034908:154034967:154038388:154038434:154038857:154038921 | 154038388:154038434 |
| exon_skip_178972 | chr5 | 153992688:153993110:153994592:153994743:153994919:153994972 | 153994592:153994743 |
| exon_skip_229355 | chr5 | 154034876:154034946:154038293:154038434:154038857:154038880 | 154038293:154038434 |
| exon_skip_261767 | chr5 | 154034744:154034967:154038388:154038434:154038857:154038921 | 154038388:154038434 |
| exon_skip_274409 | chr5 | 154034908:154034967:154038388:154038434:154038857:154038880 | 154038388:154038434 |
| exon_skip_278027 | chr5 | 154033817:154033883:154034278:154034377:154034744:154034946 | 154034278:154034377 |
| exon_skip_294817 | chr5 | 154028280:154028283:154029489:154029580:154033791:154033877 | 154029489:154029580 |
| exon_skip_51791 | chr5 | 154034908:154034967:154038293:154038434:154038857:154038880 | 154038293:154038434 |
| exon_skip_59269 | chr5 | 154029489:154029580:154033791:154033883:154034278:154034377 | 154033791:154033883 |
| 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 FAM114A2 |
| 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 |
| ENST00000520667 | 154038388 | 154038434 | 3UTR-3UTR |
| ENST00000351797 | 154011241 | 154011320 | Frame-shift |
| ENST00000520667 | 154011241 | 154011320 | Frame-shift |
| ENST00000522858 | 154011241 | 154011320 | Frame-shift |
| ENST00000351797 | 154029489 | 154029580 | Frame-shift |
| ENST00000520667 | 154029489 | 154029580 | Frame-shift |
| ENST00000522858 | 154029489 | 154029580 | Frame-shift |
| ENST00000351797 | 154033791 | 154033883 | In-frame |
| ENST00000520667 | 154033791 | 154033883 | In-frame |
| ENST00000522858 | 154033791 | 154033883 | 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 |
| ENST00000520667 | 154038388 | 154038434 | 3UTR-3UTR |
| ENST00000351797 | 154011241 | 154011320 | Frame-shift |
| ENST00000520667 | 154011241 | 154011320 | Frame-shift |
| ENST00000522858 | 154011241 | 154011320 | Frame-shift |
| 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 |
| ENST00000520667 | 154038388 | 154038434 | 3UTR-3UTR |
| ENST00000351797 | 154011241 | 154011320 | Frame-shift |
| ENST00000520667 | 154011241 | 154011320 | Frame-shift |
| ENST00000522858 | 154011241 | 154011320 | Frame-shift |
| ENST00000351797 | 154034278 | 154034377 | Frame-shift |
| ENST00000520667 | 154034278 | 154034377 | Frame-shift |
| ENST00000522858 | 154034278 | 154034377 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for FAM114A2 |
p-ENSG00000055147_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 |
| ENST00000351797 | 4460 | 505 | 154033791 | 154033883 | 388 | 479 | 103 | 134 |
| ENST00000520667 | 2138 | 505 | 154033791 | 154033883 | 437 | 528 | 103 | 134 |
| ENST00000522858 | 3396 | 505 | 154033791 | 154033883 | 899 | 990 | 103 | 134 |
| 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 |
| 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 |
| 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 |
| Q9NRY5 | 103 | 134 | 1 | 505 | Chain | ID=PRO_0000274564;Note=Protein FAM114A2 |
| Q9NRY5 | 103 | 134 | 1 | 505 | Chain | ID=PRO_0000274564;Note=Protein FAM114A2 |
| Q9NRY5 | 103 | 134 | 1 | 505 | Chain | ID=PRO_0000274564;Note=Protein FAM114A2 |
| Q9NRY5 | 103 | 134 | 122 | 122 | Sequence conflict | Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRY5 | 103 | 134 | 122 | 122 | Sequence conflict | Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRY5 | 103 | 134 | 122 | 122 | Sequence conflict | Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRY5 | 103 | 134 | 122 | 122 | Sequence conflict | Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRY5 | 103 | 134 | 122 | 122 | Sequence conflict | Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRY5 | 103 | 134 | 122 | 122 | Sequence conflict | Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRY5 | 103 | 134 | 122 | 122 | Sequence conflict | Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRY5 | 103 | 134 | 122 | 122 | Sequence conflict | Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRY5 | 103 | 134 | 122 | 122 | Sequence conflict | Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in FAM114A2 |
| 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 FAM114A2 |
| - 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 FAM114A2 |
| 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 FAM114A2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_51791 | rs707184 | chr5:154106266 | 2.937621e-04 | 2.219371e-02 |
| HCC | exon_skip_51791 | rs11948898 | chr5:154111218 | 5.911243e-04 | 3.867730e-02 |
| HCC | exon_skip_51791 | rs816010 | chr5:154083148 | 5.942290e-04 | 3.883449e-02 |
| HCC | exon_skip_51791 | rs815631 | chr5:154105101 | 5.942290e-04 | 3.883449e-02 |
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Correlation with RNA binding proteins (RBPs) for FAM114A2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FAM114A2 |
| 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 FAM114A2 |
| 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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