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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 FAM19A4 |
 Gene summary |
| Gene information | Gene symbol | FAM19A4 | Gene ID | 151647 |
| Gene name | family with sequence similarity 19 member A4, C-C motif chemokine like | |
| Synonyms | TAFA-4|TAFA4 | |
| Cytomap | 3p14.1 | |
| Type of gene | protein-coding | |
| Description | protein FAM19A4chemokine-like protein TAFA-4family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96LR4 | |
| Context | PubMed: FAM19A4 [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 FAM19A4 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 FAM19A4 |
| 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 FAM19A4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_385658 | 3 | 68780916:68782304:68788225:68788350:68802013:68802169 | 68788225:68788350 | ENSG00000163377.10 | ENST00000295569.7 |
| exon_skip_385660 | 3 | 68788266:68788350:68802013:68802169:68929880:68929996 | 68802013:68802169 | ENSG00000163377.10 | ENST00000295569.7 |
| exon_skip_385661 | 3 | 68802066:68802169:68929880:68929996:68934325:68934461 | 68929880:68929996 | ENSG00000163377.10 | ENST00000295569.7,ENST00000495737.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FAM19A4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_385658 | 3 | 68780916:68782304:68788225:68788350:68802013:68802169 | 68788225:68788350 | ENSG00000163377.10 | ENST00000295569.7 |
| exon_skip_385660 | 3 | 68788266:68788350:68802013:68802169:68929880:68929996 | 68802013:68802169 | ENSG00000163377.10 | ENST00000295569.7 |
| exon_skip_385661 | 3 | 68802066:68802169:68929880:68929996:68934325:68934461 | 68929880:68929996 | ENSG00000163377.10 | ENST00000295569.7,ENST00000495737.1 |
| 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 FAM19A4 |
| 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 |
| ENST00000295569 | 68788225 | 68788350 | Frame-shift |
| ENST00000295569 | 68929880 | 68929996 | Frame-shift |
| ENST00000295569 | 68802013 | 68802169 | In-frame |
| 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 |
| ENST00000295569 | 68788225 | 68788350 | Frame-shift |
| ENST00000295569 | 68929880 | 68929996 | Frame-shift |
| ENST00000295569 | 68802013 | 68802169 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FAM19A4 |
| 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 |
| ENST00000295569 | 2309 | 140 | 68802013 | 68802169 | 624 | 779 | 43 | 95 |
| 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 |
| ENST00000295569 | 2309 | 140 | 68802013 | 68802169 | 624 | 779 | 43 | 95 |
| 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 |
| Q96LR4 | 43 | 95 | 36 | 140 | Chain | ID=PRO_0000042728;Note=Protein FAM19A4 |
| 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 |
| Q96LR4 | 43 | 95 | 36 | 140 | Chain | ID=PRO_0000042728;Note=Protein FAM19A4 |
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SNVs in the skipped exons for FAM19A4 |
| - 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 |
| GBM | TCGA-06-6694-01 | exon_skip_385661 | 68929881 | 68929996 | 68929927 | 68929927 | Nonsense_Mutation | G | T | p.C28* |
| BLCA | TCGA-E7-A3Y1-01 | exon_skip_385660 | 68802014 | 68802169 | 68802170 | 68802170 | Splice_Site | C | T | p.G44_splice |
| - 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 |
| CHP126_AUTONOMIC_GANGLIA | 68788226 | 68788350 | 68788236 | 68788236 | Missense_Mutation | T | C | p.K134R |
| IM95_STOMACH | 68788226 | 68788350 | 68788253 | 68788253 | Missense_Mutation | G | T | p.S128R |
| JHH7_LIVER | 68788226 | 68788350 | 68788257 | 68788257 | Missense_Mutation | C | A | p.C127F |
| A375_SKIN | 68788226 | 68788350 | 68788294 | 68788294 | Missense_Mutation | C | T | p.D115N |
| 451LU_SKIN | 68788226 | 68788350 | 68788303 | 68788303 | Missense_Mutation | C | T | p.E112K |
| KMRC1_KIDNEY | 68788226 | 68788350 | 68788311 | 68788311 | Missense_Mutation | G | A | p.P109L |
| HCT15_LARGE_INTESTINE | 68802014 | 68802169 | 68802028 | 68802028 | Missense_Mutation | G | T | p.P91H |
| KM12_LARGE_INTESTINE | 68802014 | 68802169 | 68802049 | 68802049 | Missense_Mutation | G | A | p.A84V |
| COLO824_BREAST | 68802014 | 68802169 | 68802049 | 68802049 | Missense_Mutation | G | A | p.A84V |
| HEC108_ENDOMETRIUM | 68802014 | 68802169 | 68802076 | 68802076 | Missense_Mutation | T | C | p.K75R |
| CW2_LARGE_INTESTINE | 68802014 | 68802169 | 68802157 | 68802157 | Missense_Mutation | A | G | p.I48T |
| KALS1_CENTRAL_NERVOUS_SYSTEM | 68929881 | 68929996 | 68929896 | 68929896 | Missense_Mutation | G | A | p.L39F |
| K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 68929881 | 68929996 | 68929899 | 68929899 | Missense_Mutation | G | A | p.H38Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FAM19A4 |
| 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 FAM19A4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM19A4 |
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RelatedDrugs for FAM19A4 |
| 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 FAM19A4 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FAM19A4 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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