|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for FAM124A |
 Gene summary |
| Gene information | Gene symbol | FAM124A | Gene ID | 220108 |
| Gene name | family with sequence similarity 124 member A | |
| Synonyms | - | |
| Cytomap | 13q14.3 | |
| Type of gene | protein-coding | |
| Description | protein FAM124Afamily with sequence similarity 124A | |
| Modification date | 20180519 | |
| UniProtAcc | Q86V42 | |
| Context | PubMed: FAM124A [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 |
Top |
Exon skipping events across known transcript of Ensembl for FAM124A 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. |
 |
Top |
Gene isoform structures and expression levels for FAM124A |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for FAM124A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_100570 | 13 | 51796512:51796705:51799256:51799492:51801382:51801496 | 51799256:51799492 | ENSG00000150510.11 | ENST00000497449.2 |
| exon_skip_100576 | 13 | 51805483:51805515:51819447:51819555:51825603:51826337 | 51819447:51819555 | ENSG00000150510.11 | ENST00000280057.6 |
| exon_skip_100577 | 13 | 51805483:51805515:51825603:51826337:51854585:51855616 | 51825603:51826337 | ENSG00000150510.11 | ENST00000322475.8 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for FAM124A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_100570 | 13 | 51796512:51796705:51799256:51799492:51801382:51801496 | 51799256:51799492 | ENSG00000150510.11 | ENST00000497449.2 |
| exon_skip_100576 | 13 | 51805483:51805515:51819447:51819555:51825603:51826337 | 51819447:51819555 | ENSG00000150510.11 | ENST00000280057.6 |
| exon_skip_100577 | 13 | 51805483:51805515:51825603:51826337:51854585:51855616 | 51825603:51826337 | ENSG00000150510.11 | ENST00000322475.8 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for FAM124A |
| 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 |
| ENST00000322475 | 51825603 | 51826337 | 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 |
| ENST00000322475 | 51825603 | 51826337 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for FAM124A |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
Top |
SNVs in the skipped exons for FAM124A |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| LUAD | TCGA-86-8281-01 | exon_skip_100577 | 51825604 | 51826337 | 51825780 | 51825780 | Frame_Shift_Del | C | - | p.P94fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_100577 | 51825604 | 51826337 | 51826193 | 51826193 | Frame_Shift_Del | C | - | p.C230fs |
| SKCM | TCGA-EE-A29D-06 | exon_skip_100577 | 51825604 | 51826337 | 51825779 | 51825780 | Frame_Shift_Ins | - | C | p.NP92fs |
| BLCA | TCGA-E7-A677-01 | exon_skip_100577 | 51825604 | 51826337 | 51826227 | 51826227 | Nonsense_Mutation | C | T | p.R242* |
| HNSC | TCGA-D6-6516-01 | exon_skip_100577 | 51825604 | 51826337 | 51826338 | 51826338 | Splice_Site | G | A | p.Q278_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 |
| SNU1040_LARGE_INTESTINE | 51825604 | 51826337 | 51826131 | 51826132 | Frame_Shift_Ins | - | T | p.I210fs |
| GP5D_LARGE_INTESTINE | 51825604 | 51826337 | 51825630 | 51825630 | Missense_Mutation | G | A | p.D43N |
| EFM19_BREAST | 51825604 | 51826337 | 51825669 | 51825669 | Missense_Mutation | G | A | p.G56R |
| NCIH2052_PLEURA | 51825604 | 51826337 | 51825741 | 51825741 | Missense_Mutation | C | T | p.R80W |
| HEC251_ENDOMETRIUM | 51825604 | 51826337 | 51825840 | 51825840 | Missense_Mutation | G | A | p.E113K |
| HCT15_LARGE_INTESTINE | 51825604 | 51826337 | 51825865 | 51825865 | Missense_Mutation | G | A | p.R121H |
| SNU1040_LARGE_INTESTINE | 51825604 | 51826337 | 51825865 | 51825865 | Missense_Mutation | G | A | p.R121H |
| LNCAPCLONEFGC_PROSTATE | 51825604 | 51826337 | 51825880 | 51825880 | Missense_Mutation | C | T | p.P126L |
| NCIH1437_LUNG | 51825604 | 51826337 | 51825915 | 51825915 | Missense_Mutation | G | T | p.G138C |
| HT115_LARGE_INTESTINE | 51825604 | 51826337 | 51825953 | 51825953 | Missense_Mutation | C | A | p.F150L |
| LCLC97TM1_LUNG | 51825604 | 51826337 | 51825973 | 51825973 | Missense_Mutation | C | A | p.T157K |
| HT115_LARGE_INTESTINE | 51825604 | 51826337 | 51826006 | 51826006 | Missense_Mutation | G | A | p.G168D |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51825604 | 51826337 | 51826020 | 51826020 | Missense_Mutation | C | T | p.R173C |
| HEC1A_ENDOMETRIUM | 51825604 | 51826337 | 51826054 | 51826054 | Missense_Mutation | C | T | p.A184V |
| LNCAPCLONEFGC_PROSTATE | 51825604 | 51826337 | 51826066 | 51826066 | Missense_Mutation | G | T | p.R188M |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51825604 | 51826337 | 51826086 | 51826086 | Missense_Mutation | C | T | p.R195W |
| JIYOYEP2003_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 51825604 | 51826337 | 51826087 | 51826087 | Missense_Mutation | G | T | p.R195L |
| NCIH650_LUNG | 51825604 | 51826337 | 51826142 | 51826142 | Missense_Mutation | C | A | p.N213K |
| NCIH1793_LUNG | 51825604 | 51826337 | 51826146 | 51826146 | Missense_Mutation | G | T | p.D215Y |
| JHH5_LIVER | 51825604 | 51826337 | 51826153 | 51826153 | Missense_Mutation | A | C | p.D217A |
| EKVX_LUNG | 51825604 | 51826337 | 51826171 | 51826171 | Missense_Mutation | A | G | p.K223R |
| CHL1_SKIN | 51825604 | 51826337 | 51826186 | 51826186 | Missense_Mutation | A | G | p.D228G |
| PLCPRF5_LIVER | 51825604 | 51826337 | 51826210 | 51826210 | Missense_Mutation | C | T | p.S236F |
| HEPG2_LIVER | 51825604 | 51826337 | 51826254 | 51826254 | Missense_Mutation | C | T | p.P251S |
| C3A_LIVER | 51825604 | 51826337 | 51826254 | 51826254 | Missense_Mutation | C | T | p.P251S |
| MCC13_SKIN | 51825604 | 51826337 | 51826311 | 51826311 | Missense_Mutation | C | T | p.H270Y |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FAM124A |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM124A |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM124A |
Top |
RelatedDrugs for FAM124A |
| 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 |
Top |
RelatedDiseases for FAM124A |
| 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)
|