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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 FAM173B |
 Gene summary |
| Gene information | Gene symbol | FAM173B | Gene ID | 134145 |
| Gene name | family with sequence similarity 173 member B | |
| Synonyms | JS-2 | |
| Cytomap | 5p15.2 | |
| Type of gene | protein-coding | |
| Description | protein FAM173B | |
| Modification date | 20180519 | |
| UniProtAcc | Q6P4H8 | |
| Context | PubMed: FAM173B [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 FAM173B 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 FAM173B |
| 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 FAM173B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441064 | 5 | 10227721:10227759:10235322:10235373:10236589:10236727 | 10235322:10235373 | ENSG00000150756.9 | ENST00000511437.1,ENST00000506108.2,ENST00000280330.8 |
| exon_skip_441065 | 5 | 10227721:10227759:10235322:10235373:10236633:10236727 | 10235322:10235373 | ENSG00000150756.9 | ENST00000510052.1 |
| exon_skip_441066 | 5 | 10227721:10227759:10236589:10236727:10239178:10239468 | 10236589:10236727 | ENSG00000150756.9 | ENST00000510047.1 |
| exon_skip_441070 | 5 | 10236633:10236727:10236949:10237152:10239178:10239468 | 10236949:10237152 | ENSG00000150756.9 | ENST00000506108.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FAM173B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_441064 | 5 | 10227721:10227759:10235322:10235373:10236589:10236727 | 10235322:10235373 | ENSG00000150756.9 | ENST00000280330.8,ENST00000511437.1,ENST00000506108.2 |
| exon_skip_441065 | 5 | 10227721:10227759:10235322:10235373:10236633:10236727 | 10235322:10235373 | ENSG00000150756.9 | ENST00000510052.1 |
| exon_skip_441066 | 5 | 10227721:10227759:10236589:10236727:10239178:10239468 | 10236589:10236727 | ENSG00000150756.9 | ENST00000510047.1 |
| exon_skip_441070 | 5 | 10236633:10236727:10236949:10237152:10239178:10239468 | 10236949:10237152 | ENSG00000150756.9 | ENST00000506108.2 |
| 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 FAM173B |
| 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 |
| ENST00000511437 | 10235322 | 10235373 | 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 |
| ENST00000511437 | 10235322 | 10235373 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FAM173B |
| 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 |
| ENST00000511437 | 1440 | 233 | 10235322 | 10235373 | 458 | 508 | 148 | 165 |
| 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 |
| ENST00000511437 | 1440 | 233 | 10235322 | 10235373 | 458 | 508 | 148 | 165 |
| 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 |
| Q6P4H8 | 148 | 165 | 149 | 165 | Alternative sequence | ID=VSP_044724;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q6P4H8 | 148 | 165 | 1 | 233 | Chain | ID=PRO_0000321536;Note=Protein N-lysine methyltransferase FAM173B |
| 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 |
| Q6P4H8 | 148 | 165 | 149 | 165 | Alternative sequence | ID=VSP_044724;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q6P4H8 | 148 | 165 | 1 | 233 | Chain | ID=PRO_0000321536;Note=Protein N-lysine methyltransferase FAM173B |
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SNVs in the skipped exons for FAM173B |
| - 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 |
| BLCA | TCGA-FD-A3SO-01 | exon_skip_441064 exon_skip_441065 | 10235323 | 10235373 | 10235356 | 10235356 | Nonsense_Mutation | G | T | p.Y154* |
| - 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 |
| HS746T_STOMACH | 10235323 | 10235373 | 10235346 | 10235346 | Missense_Mutation | C | A | p.V158F |
| ES1_BONE | 10235323 | 10235373 | 10235354 | 10235354 | Missense_Mutation | G | A | p.S155L |
| SNUC2A_LARGE_INTESTINE | 10236590 | 10236727 | 10236610 | 10236610 | Missense_Mutation | A | G | p.Y142H |
| SNUC2B_LARGE_INTESTINE | 10236590 | 10236727 | 10236610 | 10236610 | Missense_Mutation | A | G | p.Y142H |
| PL18_PANCREAS | 10236590 | 10236727 | 10236639 | 10236639 | Missense_Mutation | C | T | p.R132Q |
| NCIH510_LUNG | 10236590 | 10236727 | 10236662 | 10236662 | Missense_Mutation | C | A | p.W124C |
| LXF289_LUNG | 10236590 | 10236727 | 10236676 | 10236676 | Missense_Mutation | G | A | p.P120S |
| SNU8_OVARY | 10236590 | 10236727 | 10236707 | 10236707 | Missense_Mutation | T | A | p.K109N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FAM173B |
| 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 |
| exon_skip_441070 | 5 | 10236633:10236727:10236949:10237152:10239178:10239468 | 10236949:10237152 | ENST00000506108.2 | BLCA | rs12653481 | chr5:10237036 | A/G | 1.26e-06 |
| exon_skip_441070 | 5 | 10236633:10236727:10236949:10237152:10239178:10239468 | 10236949:10237152 | ENST00000506108.2 | BLCA | rs6876650 | chr5:10237155 | G/A | 5.28e-04 |
| exon_skip_441070 | 5 | 10236633:10236727:10236949:10237152:10239178:10239468 | 10236949:10237152 | ENST00000506108.2 | LGG | rs12653481 | chr5:10237036 | A/G | 2.85e-03 |
| exon_skip_441070 | 5 | 10236633:10236727:10236949:10237152:10239178:10239468 | 10236949:10237152 | ENST00000506108.2 | KIRC | rs12653481 | chr5:10237036 | A/G | 2.80e-04 |
| exon_skip_441070 | 5 | 10236633:10236727:10236949:10237152:10239178:10239468 | 10236949:10237152 | ENST00000506108.2 | KIRC | rs6876650 | chr5:10237155 | G/A | 9.09e-04 |
| exon_skip_441070 | 5 | 10236633:10236727:10236949:10237152:10239178:10239468 | 10236949:10237152 | ENST00000506108.2 | LUAD | rs6876650 | chr5:10237155 | G/A | 1.65e-04 |
| exon_skip_441070 | 5 | 10236633:10236727:10236949:10237152:10239178:10239468 | 10236949:10237152 | ENST00000506108.2 | LUAD | rs12653481 | chr5:10237036 | A/G | 2.02e-03 |
| exon_skip_441070 | 5 | 10236633:10236727:10236949:10237152:10239178:10239468 | 10236949:10237152 | ENST00000506108.2 | LUSC | rs6876650 | chr5:10237155 | G/A | 1.14e-05 |
| exon_skip_441070 | 5 | 10236633:10236727:10236949:10237152:10239178:10239468 | 10236949:10237152 | ENST00000506108.2 | LUSC | rs12653481 | chr5:10237036 | A/G | 2.22e-04 |
| exon_skip_441070 | 5 | 10236633:10236727:10236949:10237152:10239178:10239468 | 10236949:10237152 | ENST00000506108.2 | LUSC | rs6876650 | chr5:10237155 | G/A | 8.20e-04 |
| exon_skip_441070 | 5 | 10236633:10236727:10236949:10237152:10239178:10239468 | 10236949:10237152 | ENST00000506108.2 | PRAD | rs6876650 | chr5:10237155 | G/A | 2.78e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM173B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM173B |
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RelatedDrugs for FAM173B |
| 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 FAM173B |
| 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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