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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 FAM120A |
 Gene summary |
| Gene information | Gene symbol | FAM120A | Gene ID | 23196 |
| Gene name | family with sequence similarity 120A | |
| Synonyms | C9orf10|HBVPTPAP|OSSA | |
| Cytomap | 9q22.31 | |
| Type of gene | protein-coding | |
| Description | constitutive coactivator of PPAR-gamma-like protein 1oxidative stess-associated Src activatoroxidative stress-associated Src activator | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NZB2 | |
| Context | PubMed: FAM120A [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 FAM120A 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 FAM120A |
| 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 FAM120A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_497296 | 9 | 96214665:96214671:96233422:96233669:96238537:96238620 | 96233422:96233669 | ENSG00000048828.12 | ENST00000333936.5,ENST00000340893.4,ENST00000375389.3,ENST00000446420.2 |
| exon_skip_497299 | 9 | 96233422:96233669:96238537:96238620:96259752:96259881 | 96238537:96238620 | ENSG00000048828.12 | ENST00000333936.5,ENST00000340893.4,ENST00000375389.3,ENST00000446420.2,ENST00000277165.6 |
| exon_skip_497305 | 9 | 96259752:96259881:96261071:96261168:96277948:96278049 | 96261071:96261168 | ENSG00000048828.12 | ENST00000333936.5,ENST00000340893.4,ENST00000375389.3,ENST00000446420.2,ENST00000277165.6 |
| exon_skip_497311 | 9 | 96278264:96278551:96285561:96285645:96289436:96289524 | 96285561:96285645 | ENSG00000048828.12 | ENST00000333936.5 |
| exon_skip_497314 | 9 | 96289436:96289524:96291634:96291862:96294436:96294611 | 96291634:96291862 | ENSG00000048828.12 | ENST00000333936.5,ENST00000340893.4,ENST00000446420.2,ENST00000277165.6 |
| exon_skip_497316 | 9 | 96291751:96291862:96292992:96293013:96294436:96294611 | 96292992:96293013 | ENSG00000048828.12 | ENST00000475933.1 |
| exon_skip_497317 | 9 | 96291751:96291862:96294436:96294611:96305503:96305753 | 96294436:96294611 | ENSG00000048828.12 | ENST00000333936.5,ENST00000340893.4,ENST00000277165.6 |
| exon_skip_497324 | 9 | 96312858:96312973:96318663:96318873:96320108:96320292 | 96318663:96318873 | ENSG00000048828.12 | ENST00000333936.5,ENST00000340893.4,ENST00000427765.1,ENST00000277165.6 |
| exon_skip_497332 | 9 | 96320276:96320292:96320862:96321000:96323390:96323532 | 96320862:96321000 | ENSG00000048828.12 | ENST00000333936.5,ENST00000277165.6 |
| exon_skip_497340 | 9 | 96320108:96320292:96323390:96323532:96324489:96324586 | 96323390:96323532 | ENSG00000048828.12 | ENST00000340893.4,ENST00000427765.1 |
| exon_skip_497345 | 9 | 96320862:96321000:96323390:96323532:96324489:96324586 | 96323390:96323532 | ENSG00000048828.12 | ENST00000333936.5,ENST00000277165.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FAM120A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_497296 | 9 | 96214665:96214671:96233422:96233669:96238537:96238620 | 96233422:96233669 | ENSG00000048828.12 | ENST00000375389.3,ENST00000333936.5,ENST00000340893.4,ENST00000446420.2 |
| exon_skip_497299 | 9 | 96233422:96233669:96238537:96238620:96259752:96259881 | 96238537:96238620 | ENSG00000048828.12 | ENST00000277165.6,ENST00000375389.3,ENST00000333936.5,ENST00000340893.4,ENST00000446420.2 |
| exon_skip_497305 | 9 | 96259752:96259881:96261071:96261168:96277948:96278049 | 96261071:96261168 | ENSG00000048828.12 | ENST00000277165.6,ENST00000375389.3,ENST00000333936.5,ENST00000340893.4,ENST00000446420.2 |
| exon_skip_497311 | 9 | 96278264:96278551:96285561:96285645:96289436:96289524 | 96285561:96285645 | ENSG00000048828.12 | ENST00000333936.5 |
| exon_skip_497314 | 9 | 96289436:96289524:96291634:96291862:96294436:96294611 | 96291634:96291862 | ENSG00000048828.12 | ENST00000277165.6,ENST00000333936.5,ENST00000340893.4,ENST00000446420.2 |
| exon_skip_497316 | 9 | 96291751:96291862:96292992:96293013:96294436:96294611 | 96292992:96293013 | ENSG00000048828.12 | ENST00000475933.1 |
| exon_skip_497317 | 9 | 96291751:96291862:96294436:96294611:96305503:96305753 | 96294436:96294611 | ENSG00000048828.12 | ENST00000277165.6,ENST00000333936.5,ENST00000340893.4 |
| exon_skip_497324 | 9 | 96312858:96312973:96318663:96318873:96320108:96320292 | 96318663:96318873 | ENSG00000048828.12 | ENST00000277165.6,ENST00000333936.5,ENST00000340893.4,ENST00000427765.1 |
| exon_skip_497332 | 9 | 96320276:96320292:96320862:96321000:96323390:96323532 | 96320862:96321000 | ENSG00000048828.12 | ENST00000277165.6,ENST00000333936.5 |
| exon_skip_497340 | 9 | 96320108:96320292:96323390:96323532:96324489:96324586 | 96323390:96323532 | ENSG00000048828.12 | ENST00000340893.4,ENST00000427765.1 |
| exon_skip_497345 | 9 | 96320862:96321000:96323390:96323532:96324489:96324586 | 96323390:96323532 | ENSG00000048828.12 | ENST00000277165.6,ENST00000333936.5 |
| 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 FAM120A |
| 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 |
| ENST00000277165 | 96238537 | 96238620 | Frame-shift |
| ENST00000277165 | 96261071 | 96261168 | Frame-shift |
| ENST00000277165 | 96294436 | 96294611 | Frame-shift |
| ENST00000277165 | 96323390 | 96323532 | Frame-shift |
| ENST00000277165 | 96291634 | 96291862 | In-frame |
| ENST00000277165 | 96318663 | 96318873 | In-frame |
| ENST00000277165 | 96320862 | 96321000 | 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 |
| ENST00000277165 | 96238537 | 96238620 | Frame-shift |
| ENST00000277165 | 96261071 | 96261168 | Frame-shift |
| ENST00000277165 | 96294436 | 96294611 | Frame-shift |
| ENST00000277165 | 96323390 | 96323532 | Frame-shift |
| ENST00000277165 | 96291634 | 96291862 | In-frame |
| ENST00000277165 | 96318663 | 96318873 | In-frame |
| ENST00000277165 | 96320862 | 96321000 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FAM120A |
| 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 |
| ENST00000277165 | 5135 | 1118 | 96291634 | 96291862 | 1701 | 1928 | 502 | 578 |
| ENST00000277165 | 5135 | 1118 | 96318663 | 96318873 | 2469 | 2678 | 758 | 828 |
| ENST00000277165 | 5135 | 1118 | 96320862 | 96321000 | 2863 | 3000 | 889 | 935 |
| 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 |
| ENST00000277165 | 5135 | 1118 | 96291634 | 96291862 | 1701 | 1928 | 502 | 578 |
| ENST00000277165 | 5135 | 1118 | 96318663 | 96318873 | 2469 | 2678 | 758 | 828 |
| ENST00000277165 | 5135 | 1118 | 96320862 | 96321000 | 2863 | 3000 | 889 | 935 |
| 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 FAM120A |
| - 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. |
FAM120A_KICH_exon_skip_497296_psi_boxplot.png |
FAM120A_KIRC_exon_skip_497296_psi_boxplot.png |
FAM120A_LIHC_exon_skip_497296_psi_boxplot.png |
| - 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 |
| KIRC | TCGA-BP-4162-01 | exon_skip_497296 | 96233423 | 96233669 | 96233580 | 96233589 | Frame_Shift_Del | GTCTCACCAC | - | p.211_214del |
| COAD | TCGA-D5-6927-01 | exon_skip_497314 | 96291635 | 96291862 | 96291773 | 96291773 | Frame_Shift_Del | C | - | p.L548fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_497314 | 96291635 | 96291862 | 96291773 | 96291773 | Frame_Shift_Del | C | - | p.P550fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_497324 | 96318664 | 96318873 | 96318792 | 96318792 | Frame_Shift_Del | T | - | p.Y801fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_497324 | 96318664 | 96318873 | 96318839 | 96318839 | Frame_Shift_Del | A | - | p.E817fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_497296 | 96233423 | 96233669 | 96233546 | 96233547 | Frame_Shift_Ins | - | C | p.P200fs |
| KICH | TCGA-KL-8342-01 | exon_skip_497296 | 96233423 | 96233669 | 96233575 | 96233576 | Frame_Shift_Ins | - | A | p.G209fs |
| LIHC | TCGA-DD-A4NG-01 | exon_skip_497296 | 96233423 | 96233669 | 96233651 | 96233652 | Frame_Shift_Ins | - | T | p.F235fs |
| LIHC | TCGA-DD-A4NG-01 | exon_skip_497296 | 96233423 | 96233669 | 96233651 | 96233652 | Frame_Shift_Ins | - | T | p.I235fs |
| BLCA | TCGA-XF-AAN0-01 | exon_skip_497296 | 96233423 | 96233669 | 96233438 | 96233438 | Nonsense_Mutation | G | T | p.E164* |
| BLCA | TCGA-E7-A7DV-01 | exon_skip_497296 | 96233423 | 96233669 | 96233450 | 96233450 | Nonsense_Mutation | C | T | p.Q168* |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_497296 | 96233423 | 96233669 | 96233609 | 96233609 | Nonsense_Mutation | G | T | p.E221* |
| SKCM | TCGA-EE-A2MS-06 | exon_skip_497305 | 96261072 | 96261168 | 96261096 | 96261096 | Nonsense_Mutation | C | T | p.R320* |
| SKCM | TCGA-EE-A2MS-06 | exon_skip_497305 | 96261072 | 96261168 | 96261096 | 96261096 | Nonsense_Mutation | C | T | p.R320X |
| UCEC | TCGA-AP-A059-01 | exon_skip_497317 | 96294437 | 96294611 | 96294606 | 96294606 | Nonsense_Mutation | C | T | p.Q478* |
| BLCA | TCGA-YC-A8S6-01 | exon_skip_497324 | 96318664 | 96318873 | 96318698 | 96318698 | Nonsense_Mutation | C | G | p.S770* |
| STAD | TCGA-CG-5723-01 | exon_skip_497305 | 96261072 | 96261168 | 96261170 | 96261170 | Splice_Site | T | C | p.A344_splice |
| SKCM | TCGA-EB-A24D-01 | exon_skip_497340 exon_skip_497345 | 96323391 | 96323532 | 96323390 | 96323390 | Splice_Site | G | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EB-A24D-01 |
| Cancer type: SKCM | |
| ESID: exon_skip_497345 | |
| Skipped exon start: 96323391 | |
| Skipped exon end: 96323532 | |
| Mutation start: 96323390 | |
| Mutation end: 96323390 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_497340_SKCM_TCGA-EB-A24D-01.png | |
exon_skip_497345_SKCM_TCGA-EB-A24D-01.png | |
 | Sample: TCGA-EB-A24D-01 |
| Cancer type: SKCM | |
| ESID: exon_skip_497345 | |
| Skipped exon start: 96323391 | |
| Skipped exon end: 96323532 | |
| Mutation start: 96323390 | |
| Mutation end: 96323390 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: . | |
| exon_skip_497340_SKCM_TCGA-EB-A24D-01.png | |
| exon_skip_497345_SKCM_TCGA-EB-A24D-01.png | |
 | Sample: TCGA-AP-A059-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_497317 | |
| Skipped exon start: 96294437 | |
| Skipped exon end: 96294611 | |
| Mutation start: 96294606 | |
| Mutation end: 96294606 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q478* | |
exon_skip_109805_UCEC_TCGA-AP-A059-01.png | |
exon_skip_115311_UCEC_TCGA-AP-A059-01.png | |
exon_skip_24581_UCEC_TCGA-AP-A059-01.png | |
exon_skip_24582_UCEC_TCGA-AP-A059-01.png | |
exon_skip_24584_UCEC_TCGA-AP-A059-01.png | |
exon_skip_288059_UCEC_TCGA-AP-A059-01.png | |
exon_skip_304943_UCEC_TCGA-AP-A059-01.png | |
exon_skip_390430_UCEC_TCGA-AP-A059-01.png | |
exon_skip_477308_UCEC_TCGA-AP-A059-01.png | |
exon_skip_479028_UCEC_TCGA-AP-A059-01.png | |
exon_skip_484819_UCEC_TCGA-AP-A059-01.png | |
exon_skip_497317_UCEC_TCGA-AP-A059-01.png | |
exon_skip_499703_UCEC_TCGA-AP-A059-01.png | |
exon_skip_512666_UCEC_TCGA-AP-A059-01.png | |
exon_skip_5195_UCEC_TCGA-AP-A059-01.png | |
exon_skip_57355_UCEC_TCGA-AP-A059-01.png | |
exon_skip_5754_UCEC_TCGA-AP-A059-01.png | |
exon_skip_71021_UCEC_TCGA-AP-A059-01.png | |
exon_skip_89692_UCEC_TCGA-AP-A059-01.png | |
 | Sample: TCGA-KL-8342-01 |
| Cancer type: KICH | |
| ESID: exon_skip_497296 | |
| Skipped exon start: 96233423 | |
| Skipped exon end: 96233669 | |
| Mutation start: 96233575 | |
| Mutation end: 96233576 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.G209fs | |
exon_skip_497296_KICH_TCGA-KL-8342-01.png | |
 | Sample: TCGA-BP-4162-01 |
| Cancer type: KIRC | |
| ESID: exon_skip_497296 | |
| Skipped exon start: 96233423 | |
| Skipped exon end: 96233669 | |
| Mutation start: 96233580 | |
| Mutation end: 96233589 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: GTCTCACCAC | |
| Mutation seq: - | |
| AAchange: p.211_214del | |
exon_skip_497296_KIRC_TCGA-BP-4162-01.png | |
| - 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 |
| OMC1_CERVIX | 96233423 | 96233669 | 96233467 | 96233467 | Missense_Mutation | C | A | p.F173L |
| EN_ENDOMETRIUM | 96233423 | 96233669 | 96233522 | 96233522 | Missense_Mutation | T | C | p.C192R |
| JHU029_UPPER_AERODIGESTIVE_TRACT | 96233423 | 96233669 | 96233572 | 96233572 | Missense_Mutation | C | G | p.N208K |
| MFE319_ENDOMETRIUM | 96233423 | 96233669 | 96233643 | 96233643 | Missense_Mutation | G | T | p.R232L |
| CESS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 96238538 | 96238620 | 96238603 | 96238603 | Missense_Mutation | C | T | p.P263S |
| HCC2998_LARGE_INTESTINE | 96261072 | 96261168 | 96261097 | 96261097 | Missense_Mutation | G | A | p.R320Q |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 96261072 | 96261168 | 96261133 | 96261133 | Missense_Mutation | G | C | p.S332T |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 96261072 | 96261168 | 96261136 | 96261136 | Missense_Mutation | A | G | p.K333R |
| OCIM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 96261072 | 96261168 | 96261160 | 96261160 | Missense_Mutation | A | G | p.H341R |
| KYSE520_OESOPHAGUS | 96291635 | 96291862 | 96291842 | 96291842 | Missense_Mutation | A | G | p.I572V |
| HTCC3_THYROID | 96294437 | 96294611 | 96294597 | 96294597 | Missense_Mutation | G | C | p.R632T |
| DOTC24510_CERVIX | 96294437 | 96294611 | 96294606 | 96294606 | Missense_Mutation | C | G | p.P635R |
| T3M4_PANCREAS | 96318664 | 96318873 | 96318760 | 96318760 | Missense_Mutation | A | G | p.I791V |
| MRKNU1_BREAST | 96320863 | 96321000 | 96320866 | 96320866 | Missense_Mutation | T | C | p.V891A |
| SNUC5_LARGE_INTESTINE | 96320863 | 96321000 | 96320899 | 96320899 | Missense_Mutation | T | C | p.V902A |
| SNUC4_LARGE_INTESTINE | 96320863 | 96321000 | 96320916 | 96320916 | Missense_Mutation | C | T | p.R908C |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 96320863 | 96321000 | 96320917 | 96320917 | Missense_Mutation | G | A | p.R908H |
| GBM001_CENTRAL_NERVOUS_SYSTEM | 96320863 | 96321000 | 96320969 | 96320969 | Missense_Mutation | T | G | p.S925R |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 96320863 | 96321000 | 96320975 | 96320975 | Missense_Mutation | C | A | p.S927R |
| EBC1_LUNG | 96323391 | 96323532 | 96323520 | 96323520 | Missense_Mutation | G | T | p.G979V |
| CHAGOK1_LUNG | 96318664 | 96318873 | 96318698 | 96318698 | Nonsense_Mutation | C | G | p.S770* |
| HUNS1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 96323391 | 96323532 | 96323411 | 96323411 | Nonsense_Mutation | C | T | p.Q943* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FAM120A |
| 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_497299 | 9 | 96233422:96233669:96238537:96238620:96259752:96259881 | 96238537:96238620 | ENST00000333936.5,ENST00000340893.4,ENST00000375389.3,ENST00000446420.2,ENST00000277165.6 | BRCA | rs10821135 | chr9:96238578 | C/T | 1.59e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM120A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAM120A |
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RelatedDrugs for FAM120A |
| 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 FAM120A |
| 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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