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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 FAM19A5 |
 Gene summary |
| Gene information | Gene symbol | FAM19A5 | Gene ID | 25817 |
| Gene name | family with sequence similarity 19 member A5, C-C motif chemokine like | |
| Synonyms | QLLK5208|TAFA-5|TAFA5|UNQ5208 | |
| Cytomap | 22q13.32 | |
| Type of gene | protein-coding | |
| Description | protein FAM19A5TAFA protein 5chemokine-like protein TAFA-5family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 | |
| Modification date | 20180329 | |
| UniProtAcc | Q7Z5A7 | |
| Context | PubMed: FAM19A5 [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 |
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Exon skipping events across known transcript of Ensembl for FAM19A5 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 FAM19A5 |
| 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 FAM19A5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_366726 | 22 | 48885403:48885516:49042408:49042558:49103528:49103656 | 49042408:49042558 | ENSG00000219438.4 | ENST00000336769.5 |
| exon_skip_366731 | 22 | 48972264:48972383:49042408:49042558:49103528:49103656 | 49042408:49042558 | ENSG00000219438.4 | ENST00000358295.5 |
| exon_skip_366733 | 22 | 49042408:49042558:49103528:49103656:49145650:49146220 | 49103528:49103656 | ENSG00000219438.4 | ENST00000358295.5,ENST00000402357.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FAM19A5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_366726 | 22 | 48885403:48885516:49042408:49042558:49103528:49103656 | 49042408:49042558 | ENSG00000219438.4 | ENST00000336769.5 |
| exon_skip_366731 | 22 | 48972264:48972383:49042408:49042558:49103528:49103656 | 49042408:49042558 | ENSG00000219438.4 | ENST00000358295.5 |
| exon_skip_366733 | 22 | 49042408:49042558:49103528:49103656:49145650:49146220 | 49103528:49103656 | ENSG00000219438.4 | ENST00000402357.1,ENST00000358295.5 |
| 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 FAM19A5 |
| 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 |
| ENST00000402357 | 49103528 | 49103656 | Frame-shift |
| 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 |
| ENST00000402357 | 49103528 | 49103656 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for FAM19A5 |
| 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 FAM19A5 |
| - 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-A3A0-01 | exon_skip_366733 | 49103529 | 49103656 | 49103533 | 49103533 | Frame_Shift_Del | A | - | p.R82fs |
| HNSC | TCGA-KU-A66S-01 | exon_skip_366733 | 49103529 | 49103656 | 49103578 | 49103578 | Frame_Shift_Del | G | - | p.E97fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_366733 | 49103529 | 49103656 | 49103578 | 49103578 | Frame_Shift_Del | G | - | p.E97fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_366733 | 49103529 | 49103656 | 49103578 | 49103578 | Frame_Shift_Del | G | - | p.E97fs |
| LUSC | TCGA-18-4083-01 | exon_skip_366733 | 49103529 | 49103656 | 49103557 | 49103557 | Nonsense_Mutation | T | A | p.C97* |
| SARC | TCGA-FX-A76Y-01 | exon_skip_366733 | 49103529 | 49103656 | 49103610 | 49103610 | Nonsense_Mutation | C | A | p.S108* |
| SKCM | TCGA-BF-A1PZ-01 | exon_skip_366733 | 49103529 | 49103656 | 49103657 | 49103657 | Splice_Site | G | A | . |
| - 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 |
| HT115_LARGE_INTESTINE | 49042409 | 49042558 | 49042420 | 49042420 | Missense_Mutation | G | A | p.A42T |
| PC9_LUNG | 49042409 | 49042558 | 49042424 | 49042424 | Missense_Mutation | G | T | p.G43V |
| PC14_LUNG | 49042409 | 49042558 | 49042424 | 49042424 | Missense_Mutation | G | T | p.G43V |
| SW48_LARGE_INTESTINE | 49042409 | 49042558 | 49042505 | 49042505 | Missense_Mutation | G | A | p.C70Y |
| MKN74_STOMACH | 49042409 | 49042558 | 49042541 | 49042541 | Missense_Mutation | G | A | p.R82Q |
| SNU1040_LARGE_INTESTINE | 49042409 | 49042558 | 49042546 | 49042546 | Missense_Mutation | G | A | p.A84T |
| U87MG_CENTRAL_NERVOUS_SYSTEM | 49103529 | 49103656 | 49103633 | 49103633 | Missense_Mutation | G | A | p.G123S |
| HCC1937_BREAST | 49042409 | 49042558 | 49042557 | 49042557 | Splice_Site | C | T | p.D87D |
| HCC1937_MATCHED_NORMAL_TISSUE | 49042409 | 49042558 | 49042557 | 49042557 | Splice_Site | C | T | p.D87D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FAM19A5 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM19A5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM19A5 |
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RelatedDrugs for FAM19A5 |
| 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 FAM19A5 |
| 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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