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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 FAM214A |
 Gene summary |
| Gene information | Gene symbol | FAM214A | Gene ID | 56204 |
| Gene name | family with sequence similarity 214 member A | |
| Synonyms | KIAA1370 | |
| Cytomap | 15q21.2-q21.3 | |
| Type of gene | protein-coding | |
| Description | protein FAM214A | |
| 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 FAM214A |
| 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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ENSG00000047346
| 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 | ENST00000399202.8 | FAM214A-202:protein_coding:FAM214A | 2.287044e+01 | 1.313684e+00 | 2.151238e-04 | 1.416578e-03 |
| CB | UP | ENST00000546305.6 | FAM214A-204:protein_coding:FAM214A | 2.257271e+02 | 8.241305e-01 | 1.581860e-03 | 7.581201e-03 |
| CB | UP | ENST00000570204.1 | FAM214A-215:nonsense_mediated_decay:FAM214A | 1.029436e+01 | 1.177703e+00 | 4.270158e-03 | 1.728971e-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 FAM214A |
| 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_127706 | chr15 | 52587151:52587219:52593578:52593736:52600127:52600235 | 52593578:52593736 |
| exon_skip_149736 | chr15 | 52593578:52593736:52601086:52601165:52605133:52605152 | 52601086:52601165 |
| exon_skip_1709 | chr15 | 52584905:52584944:52587151:52587219:52593578:52593736 | 52587151:52587219 |
| exon_skip_185800 | chr15 | 52611575:52611777:52613673:52613857:52678006:52678122 | 52613673:52613857 |
| exon_skip_217803 | chr15 | 52593578:52593736:52600127:52600235:52601086:52601164 | 52600127:52600235 |
| exon_skip_244072 | chr15 | 52600127:52600235:52601086:52601165:52605133:52605177 | 52601086:52601165 |
| exon_skip_247818 | chr15 | 52582188:52582307:52584745:52584944:52593578:52593736 | 52584745:52584944 |
| exon_skip_79303 | chr15 | 52584905:52584944:52593578:52593736:52600127:52600235 | 52593578:52593736 |
| exon_skip_82332 | chr15 | 52584905:52584944:52587056:52587219:52593578:52593736 | 52587056:52587219 |
| exon_skip_89996 | chr15 | 52593578:52593736:52601086:52601165:52605133:52605177 | 52601086:52601165 |
| 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_1709 | Mayo_CB | 7.615854e-01 | 8.794521e-01 | -1.178667e-01 | 2.568441e-07 |
| exon_skip_217803 | Mayo_CB | 5.651220e-01 | 7.234211e-01 | -1.582991e-01 | 6.779123e-07 |
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Open reading frame (ORF) annotation in the exon skipping event for FAM214A |
| 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 |
| ENST00000261844 | 52600127 | 52600235 | Frame-shift |
| ENST00000619572 | 52600127 | 52600235 | Frame-shift |
| ENST00000261844 | 52601086 | 52601165 | Frame-shift |
| ENST00000619572 | 52601086 | 52601165 | Frame-shift |
| ENST00000261844 | 52613673 | 52613857 | Frame-shift |
| ENST00000619572 | 52613673 | 52613857 | Frame-shift |
| ENST00000261844 | 52587151 | 52587219 | In-frame |
| ENST00000619572 | 52587151 | 52587219 | 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 |
| ENST00000261844 | 52600127 | 52600235 | Frame-shift |
| ENST00000619572 | 52600127 | 52600235 | Frame-shift |
| ENST00000261844 | 52601086 | 52601165 | Frame-shift |
| ENST00000619572 | 52601086 | 52601165 | Frame-shift |
| ENST00000261844 | 52587151 | 52587219 | In-frame |
| ENST00000619572 | 52587151 | 52587219 | 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 |
| ENST00000261844 | 52600127 | 52600235 | Frame-shift |
| ENST00000619572 | 52600127 | 52600235 | Frame-shift |
| ENST00000261844 | 52601086 | 52601165 | Frame-shift |
| ENST00000619572 | 52601086 | 52601165 | Frame-shift |
| ENST00000261844 | 52613673 | 52613857 | Frame-shift |
| ENST00000619572 | 52613673 | 52613857 | Frame-shift |
| ENST00000261844 | 52587151 | 52587219 | In-frame |
| ENST00000619572 | 52587151 | 52587219 | In-frame |
| ENST00000261844 | 52593578 | 52593736 | In-frame |
| ENST00000619572 | 52593578 | 52593736 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FAM214A |
p-ENSG00000047346_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 |
| 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 |
| 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 FAM214A |
| 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 FAM214A |
| - 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 FAM214A |
| 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 FAM214A |
| 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 FAM214A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_1709 | -4.786896e-01 | 2.973907e-10 |
| CB | RBM45 | exon_skip_1709 | 4.590196e-01 | 1.888793e-09 |
| CB | NUP42 | exon_skip_1709 | 4.045556e-01 | 1.781072e-07 |
| CB | DAZAP1 | exon_skip_217803 | -4.475082e-01 | 3.744326e-09 |
| CB | HNRNPC | exon_skip_217803 | -4.455935e-01 | 4.441024e-09 |
| CB | CNOT4 | exon_skip_149736 | -4.194245e-01 | 1.671761e-07 |
| CB | TRA2A | exon_skip_149736 | -4.940099e-01 | 3.130295e-10 |
| CB | NUP42 | exon_skip_149736 | 5.253731e-01 | 1.373086e-11 |
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RelatedDrugs for FAM214A |
| 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 FAM214A |
| 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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