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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 NSMAF |
 Gene summary |
| Gene information | Gene symbol | NSMAF | Gene ID | 8439 |
| Gene name | neutral sphingomyelinase activation associated factor | |
| Synonyms | FAN|GRAMD5 | |
| Cytomap | 8q12.1 | |
| Type of gene | protein-coding | |
| Description | protein FANfactor associated with N-SMase activationfactor associated with neutral sphingomyelinase activationneutral sphingomyelinase (N-SMase) activation associated factor | |
| Modification date | 20180519 | |
| UniProtAcc | Q92636 | |
| Context | PubMed: NSMAF [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 NSMAF 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 NSMAF |
| 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 NSMAF |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489903 | 8 | 59498210:59498320:59498456:59498559:59499016:59499137 | 59498456:59498559 | ENSG00000035681.3 | ENST00000038176.3,ENST00000427130.2 |
| exon_skip_489904 | 8 | 59498456:59498559:59499016:59499167:59500176:59500260 | 59499016:59499167 | ENSG00000035681.3 | ENST00000038176.3,ENST00000427130.2 |
| exon_skip_489906 | 8 | 59510418:59510461:59511790:59511922:59512308:59512429 | 59511790:59511922 | ENSG00000035681.3 | ENST00000519227.1,ENST00000523982.1,ENST00000038176.3,ENST00000427130.2 |
| exon_skip_489909 | 8 | 59512308:59512429:59512528:59512580:59513843:59513907 | 59512528:59512580 | ENSG00000035681.3 | ENST00000038176.3,ENST00000427130.2 |
| exon_skip_489910 | 8 | 59514616:59514696:59515768:59515945:59518485:59518594 | 59515768:59515945 | ENSG00000035681.3 | ENST00000519858.1,ENST00000038176.3,ENST00000427130.2 |
| exon_skip_489912 | 8 | 59515768:59515945:59518485:59518594:59520327:59520399 | 59518485:59518594 | ENSG00000035681.3 | ENST00000519858.1,ENST00000038176.3,ENST00000427130.2 |
| exon_skip_489914 | 8 | 59520327:59520399:59522162:59522292:59535778:59535831 | 59522162:59522292 | ENSG00000035681.3 | ENST00000519858.1,ENST00000038176.3,ENST00000427130.2 |
| exon_skip_489915 | 8 | 59536309:59536339:59544054:59544105:59547747:59547784 | 59544054:59544105 | ENSG00000035681.3 | ENST00000518229.1,ENST00000518159.1,ENST00000038176.3,ENST00000427130.2 |
| exon_skip_489918 | 8 | 59544054:59544105:59547747:59547784:59547863:59547931 | 59547747:59547784 | ENSG00000035681.3 | ENST00000518229.1,ENST00000522645.1,ENST00000518159.1,ENST00000038176.3,ENST00000427130.2,ENST00000519871.1 |
| exon_skip_489921 | 8 | 59548026:59548105:59549792:59549948:59555542:59555632 | 59549792:59549948 | ENSG00000035681.3 | ENST00000518229.1 |
| exon_skip_489922 | 8 | 59548026:59548105:59552526:59552661:59555542:59555632 | 59552526:59552661 | ENSG00000035681.3 | ENST00000518159.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NSMAF |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489903 | 8 | 59498210:59498320:59498456:59498559:59499016:59499137 | 59498456:59498559 | ENSG00000035681.3 | ENST00000038176.3,ENST00000427130.2 |
| exon_skip_489904 | 8 | 59498456:59498559:59499016:59499167:59500176:59500260 | 59499016:59499167 | ENSG00000035681.3 | ENST00000038176.3,ENST00000427130.2 |
| exon_skip_489906 | 8 | 59510418:59510461:59511790:59511922:59512308:59512429 | 59511790:59511922 | ENSG00000035681.3 | ENST00000038176.3,ENST00000427130.2,ENST00000523982.1,ENST00000519227.1 |
| exon_skip_489909 | 8 | 59512308:59512429:59512528:59512580:59513843:59513907 | 59512528:59512580 | ENSG00000035681.3 | ENST00000038176.3,ENST00000427130.2 |
| exon_skip_489910 | 8 | 59514616:59514696:59515768:59515945:59518485:59518594 | 59515768:59515945 | ENSG00000035681.3 | ENST00000038176.3,ENST00000427130.2,ENST00000519858.1 |
| exon_skip_489912 | 8 | 59515768:59515945:59518485:59518594:59520327:59520399 | 59518485:59518594 | ENSG00000035681.3 | ENST00000038176.3,ENST00000427130.2,ENST00000519858.1 |
| exon_skip_489914 | 8 | 59520327:59520399:59522162:59522292:59535778:59535831 | 59522162:59522292 | ENSG00000035681.3 | ENST00000038176.3,ENST00000427130.2,ENST00000519858.1 |
| exon_skip_489915 | 8 | 59536309:59536339:59544054:59544105:59547747:59547784 | 59544054:59544105 | ENSG00000035681.3 | ENST00000038176.3,ENST00000427130.2,ENST00000518229.1,ENST00000518159.1 |
| exon_skip_489921 | 8 | 59548026:59548105:59549792:59549948:59555542:59555632 | 59549792:59549948 | ENSG00000035681.3 | ENST00000518229.1 |
| exon_skip_489922 | 8 | 59548026:59548105:59552526:59552661:59555542:59555632 | 59552526:59552661 | ENSG00000035681.3 | ENST00000518159.1 |
| 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 NSMAF |
| 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 |
| ENST00000038176 | 59498456 | 59498559 | Frame-shift |
| ENST00000038176 | 59499016 | 59499167 | Frame-shift |
| ENST00000038176 | 59512528 | 59512580 | Frame-shift |
| ENST00000038176 | 59518485 | 59518594 | Frame-shift |
| ENST00000038176 | 59522162 | 59522292 | Frame-shift |
| ENST00000038176 | 59547747 | 59547784 | Frame-shift |
| ENST00000038176 | 59511790 | 59511922 | In-frame |
| ENST00000038176 | 59515768 | 59515945 | In-frame |
| ENST00000038176 | 59544054 | 59544105 | 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 |
| ENST00000038176 | 59498456 | 59498559 | Frame-shift |
| ENST00000038176 | 59499016 | 59499167 | Frame-shift |
| ENST00000038176 | 59512528 | 59512580 | Frame-shift |
| ENST00000038176 | 59518485 | 59518594 | Frame-shift |
| ENST00000038176 | 59522162 | 59522292 | Frame-shift |
| ENST00000038176 | 59511790 | 59511922 | In-frame |
| ENST00000038176 | 59515768 | 59515945 | In-frame |
| ENST00000038176 | 59544054 | 59544105 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NSMAF |
| 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 |
| ENST00000038176 | 3586 | 917 | 59544054 | 59544105 | 547 | 597 | 111 | 128 |
| ENST00000038176 | 3586 | 917 | 59515768 | 59515945 | 1082 | 1258 | 289 | 348 |
| ENST00000038176 | 3586 | 917 | 59511790 | 59511922 | 1667 | 1798 | 484 | 528 |
| 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 |
| ENST00000038176 | 3586 | 917 | 59544054 | 59544105 | 547 | 597 | 111 | 128 |
| ENST00000038176 | 3586 | 917 | 59515768 | 59515945 | 1082 | 1258 | 289 | 348 |
| ENST00000038176 | 3586 | 917 | 59511790 | 59511922 | 1667 | 1798 | 484 | 528 |
| 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 |
| Q92636 | 111 | 128 | 1 | 917 | Chain | ID=PRO_0000050975;Note=Protein FAN |
| Q92636 | 289 | 348 | 1 | 917 | Chain | ID=PRO_0000050975;Note=Protein FAN |
| Q92636 | 289 | 348 | 290 | 575 | Domain | Note=BEACH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00026 |
| Q92636 | 484 | 528 | 1 | 917 | Chain | ID=PRO_0000050975;Note=Protein FAN |
| Q92636 | 484 | 528 | 290 | 575 | Domain | Note=BEACH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00026 |
| 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 |
| Q92636 | 111 | 128 | 1 | 917 | Chain | ID=PRO_0000050975;Note=Protein FAN |
| Q92636 | 289 | 348 | 1 | 917 | Chain | ID=PRO_0000050975;Note=Protein FAN |
| Q92636 | 289 | 348 | 290 | 575 | Domain | Note=BEACH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00026 |
| Q92636 | 484 | 528 | 1 | 917 | Chain | ID=PRO_0000050975;Note=Protein FAN |
| Q92636 | 484 | 528 | 290 | 575 | Domain | Note=BEACH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00026 |
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SNVs in the skipped exons for NSMAF |
| - 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-A39Y-01 | exon_skip_489909 | 59512529 | 59512580 | 59512535 | 59512535 | Frame_Shift_Del | A | - | p.F442fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_489912 | 59518486 | 59518594 | 59518504 | 59518504 | Frame_Shift_Del | A | - | p.Y284fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_489912 | 59518486 | 59518594 | 59518504 | 59518504 | Frame_Shift_Del | A | - | p.Y284fs |
| BLCA | TCGA-GV-A3JX-01 | exon_skip_489914 | 59522163 | 59522292 | 59522183 | 59522183 | Nonsense_Mutation | G | A | p.Q223* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_489914 | 59522163 | 59522292 | 59522249 | 59522249 | Nonsense_Mutation | C | A | p.E232* |
| GBM | TCGA-28-2513-01 | exon_skip_489909 | 59512529 | 59512580 | 59512581 | 59512581 | Splice_Site | C | T | p.S458_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 |
| SNU1214_UPPER_AERODIGESTIVE_TRACT | 59499017 | 59499167 | 59499165 | 59499166 | Frame_Shift_Ins | - | A | p.V766fs |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59498457 | 59498559 | 59498523 | 59498523 | Missense_Mutation | C | T | p.C828Y |
| LI7_LIVER | 59499017 | 59499167 | 59499122 | 59499122 | Missense_Mutation | C | T | p.G781S |
| MERO84_LUNG | 59511791 | 59511922 | 59511794 | 59511794 | Missense_Mutation | T | C | p.N528D |
| SNU1040_LARGE_INTESTINE | 59511791 | 59511922 | 59511847 | 59511847 | Missense_Mutation | A | T | p.I510N |
| KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59512529 | 59512580 | 59512542 | 59512542 | Missense_Mutation | G | A | p.T440M |
| SBC1_LUNG | 59512529 | 59512580 | 59512542 | 59512542 | Missense_Mutation | G | A | p.T440M |
| TGBC11TKB_STOMACH | 59512529 | 59512580 | 59512542 | 59512542 | Missense_Mutation | G | A | p.T440M |
| ESO51_OESOPHAGUS | 59512529 | 59512580 | 59512559 | 59512559 | Missense_Mutation | G | C | p.N434K |
| NCIH841_LUNG | 59515769 | 59515945 | 59515819 | 59515819 | Missense_Mutation | T | C | p.Q332R |
| 639V_URINARY_TRACT | 59515769 | 59515945 | 59515829 | 59515829 | Missense_Mutation | C | T | p.D329N |
| A673_BONE | 59515769 | 59515945 | 59515831 | 59515831 | Missense_Mutation | T | C | p.N328S |
| SNU349_KIDNEY | 59515769 | 59515945 | 59515856 | 59515856 | Missense_Mutation | T | C | p.N320D |
| SNU685_ENDOMETRIUM | 59515769 | 59515945 | 59515921 | 59515921 | Missense_Mutation | G | A | p.A298V |
| KYSE270_OESOPHAGUS | 59518486 | 59518594 | 59518557 | 59518557 | Missense_Mutation | G | A | p.S266F |
| CORL47_LUNG | 59518486 | 59518594 | 59518578 | 59518578 | Missense_Mutation | C | A | p.C259F |
| SW1463_LARGE_INTESTINE | 59522163 | 59522292 | 59522179 | 59522179 | Missense_Mutation | G | A | p.P224L |
| HUCCT1_BILIARY_TRACT | 59522163 | 59522292 | 59522213 | 59522213 | Missense_Mutation | C | A | p.V213L |
| RERFLCMS_LUNG | 59522163 | 59522292 | 59522239 | 59522239 | Missense_Mutation | G | A | p.T204M |
| NCIH1092_LUNG | 59522163 | 59522292 | 59522282 | 59522282 | Missense_Mutation | T | C | p.I190V |
| MKN1_STOMACH | 59544055 | 59544105 | 59544086 | 59544086 | Missense_Mutation | T | C | p.H118R |
| PC3_PROSTATE | 59547748 | 59547784 | 59547752 | 59547752 | Missense_Mutation | C | G | p.S110T |
| PC3JPC3_LUNG | 59547748 | 59547784 | 59547752 | 59547752 | Missense_Mutation | C | G | p.S110T |
| CORL24_LUNG | 59512529 | 59512580 | 59512579 | 59512579 | Splice_Site | T | C | p.I428V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NSMAF |
| 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 NSMAF |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NSMAF |
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RelatedDrugs for NSMAF |
| 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 NSMAF |
| 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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