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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 MBOAT7 |
 Gene summary |
| Gene information | Gene symbol | MBOAT7 | Gene ID | 79143 |
| Gene name | membrane bound O-acyltransferase domain containing 7 | |
| Synonyms | BB1|LENG4|LPIAT|LPLAT|LRC4|MBOA7|MRT57|OACT7|hMBOA-7 | |
| Cytomap | 19q13.42 | |
| Type of gene | protein-coding | |
| Description | lysophospholipid acyltransferase 71-acylglycerophosphatidylinositol O-acyltransferaseLPLAT 7bladder and breast carcinoma-overexpressed gene 1 proteinh-mboa-7leukocyte receptor cluster (LRC) member 4lyso-PI acyltransferaselysophosphatidylinositol ac | |
| Modification date | 20180519 | |
| UniProtAcc | Q96N66 | |
| Context | PubMed: MBOAT7 [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 MBOAT7 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 MBOAT7 |
| 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 MBOAT7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_322247 | 19 | 54682481:54682658:54684489:54684850:54687403:54687517 | 54684489:54684850 | ENSG00000125505.12 | ENST00000391754.1,ENST00000245615.1,ENST00000437868.1,ENST00000338624.6,ENST00000431666.2 |
| exon_skip_322250 | 19 | 54687403:54687563:54691042:54691169:54692070:54692132 | 54691042:54691169 | ENSG00000125505.12 | ENST00000414665.1,ENST00000474910.1,ENST00000391754.1,ENST00000245615.1,ENST00000464098.1,ENST00000453320.1,ENST00000449249.1 |
| exon_skip_322251 | 19 | 54687403:54687563:54692070:54692200:54693188:54693211 | 54692070:54692200 | ENSG00000125505.12 | ENST00000338624.6 |
| exon_skip_322252 | 19 | 54692070:54692200:54692286:54692365:54693188:54693211 | 54692286:54692365 | ENSG00000125505.12 | ENST00000391754.1,ENST00000245615.1,ENST00000495968.1,ENST00000491216.1,ENST00000437868.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MBOAT7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_322244 | 19 | 54677767:54678125:54687403:54687563:54691042:54691169 | 54687403:54687563 | ENSG00000125505.12 | ENST00000449249.1 |
| exon_skip_322247 | 19 | 54682481:54682658:54684489:54684850:54687403:54687517 | 54684489:54684850 | ENSG00000125505.12 | ENST00000431666.2,ENST00000437868.1,ENST00000338624.6,ENST00000245615.1,ENST00000391754.1 |
| exon_skip_322250 | 19 | 54687403:54687563:54691042:54691169:54692070:54692132 | 54691042:54691169 | ENSG00000125505.12 | ENST00000245615.1,ENST00000449249.1,ENST00000391754.1,ENST00000414665.1,ENST00000453320.1,ENST00000464098.1,ENST00000474910.1 |
| exon_skip_322251 | 19 | 54687403:54687563:54692070:54692200:54693188:54693211 | 54692070:54692200 | ENSG00000125505.12 | ENST00000338624.6 |
| exon_skip_322252 | 19 | 54692070:54692200:54692286:54692365:54693188:54693211 | 54692286:54692365 | ENSG00000125505.12 | ENST00000437868.1,ENST00000245615.1,ENST00000391754.1,ENST00000491216.1,ENST00000495968.1 |
| 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 MBOAT7 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for MBOAT7 |
| 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 |
| 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 |
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SNVs in the skipped exons for MBOAT7 |
| - 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. |
MBOAT7_SKCM_exon_skip_322247_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 |
| SKCM | TCGA-ER-A197-06 | exon_skip_322252 | 54692287 | 54692365 | 54692318 | 54692318 | Frame_Shift_Del | G | - | p.S15fs |
| PCPG | TCGA-QR-A70K-01 | exon_skip_322252 | 54692287 | 54692365 | 54692324 | 54692324 | Frame_Shift_Del | A | - | p.L13fs |
| SKCM | TCGA-FS-A1ZA-06 | exon_skip_322247 | 54684490 | 54684850 | 54684597 | 54684597 | Nonsense_Mutation | C | T | p.W249* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-FS-A1ZA-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_322247 | |
| Skipped exon start: 54684490 | |
| Skipped exon end: 54684850 | |
| Mutation start: 54684597 | |
| Mutation end: 54684597 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.W249* | |
exon_skip_322247_SKCM_TCGA-FS-A1ZA-06.png | |
exon_skip_48265_SKCM_TCGA-FS-A1ZA-06.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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 54684490 | 54684850 | 54684797 | 54684798 | Frame_Shift_Del | CG | - | p.G183fs |
| NBTU110_AUTONOMIC_GANGLIA | 54684490 | 54684850 | 54684532 | 54684533 | Frame_Shift_Ins | - | G | p.R271fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 54684490 | 54684850 | 54684794 | 54684795 | Frame_Shift_Ins | - | TT | p.A184fs |
| JHUEM1_ENDOMETRIUM | 54684490 | 54684850 | 54684512 | 54684512 | Missense_Mutation | G | T | p.L278I |
| MKN7_STOMACH | 54684490 | 54684850 | 54684526 | 54684526 | Missense_Mutation | C | T | p.G273E |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54684490 | 54684850 | 54684526 | 54684526 | Missense_Mutation | C | T | p.G273E |
| 2313287_STOMACH | 54684490 | 54684850 | 54684533 | 54684533 | Missense_Mutation | G | A | p.R271W |
| SNU503_LARGE_INTESTINE | 54684490 | 54684850 | 54684586 | 54684586 | Missense_Mutation | T | G | p.E253A |
| MALME3M_SKIN | 54684490 | 54684850 | 54684587 | 54684587 | Missense_Mutation | C | G | p.E253Q |
| NCIH661_LUNG | 54684490 | 54684850 | 54684602 | 54684602 | Missense_Mutation | C | A | p.A248S |
| SNU1040_LARGE_INTESTINE | 54684490 | 54684850 | 54684613 | 54684613 | Missense_Mutation | C | T | p.R244H |
| SNU1040_LARGE_INTESTINE | 54684490 | 54684850 | 54684619 | 54684619 | Missense_Mutation | C | T | p.R242H |
| EFO27_OVARY | 54684490 | 54684850 | 54684706 | 54684706 | Missense_Mutation | G | A | p.P213L |
| OVK18_OVARY | 54684490 | 54684850 | 54684775 | 54684775 | Missense_Mutation | G | T | p.P190H |
| SNUC4_LARGE_INTESTINE | 54684490 | 54684850 | 54684829 | 54684829 | Missense_Mutation | G | A | p.T172I |
| HEC59_ENDOMETRIUM | 54684490 | 54684850 | 54684833 | 54684833 | Missense_Mutation | G | A | p.R171C |
| 2313287_STOMACH | 54684490 | 54684850 | 54684847 | 54684847 | Missense_Mutation | G | A | p.P166L |
| JHUEM1_ENDOMETRIUM | 54691043 | 54691169 | 54691050 | 54691050 | Missense_Mutation | G | A | p.T109M |
| SW480_LARGE_INTESTINE | 54691043 | 54691169 | 54691062 | 54691062 | Missense_Mutation | T | A | p.Q105L |
| HCC33_LUNG | 54691043 | 54691169 | 54691083 | 54691083 | Missense_Mutation | G | A | p.T98M |
| COLO684_ENDOMETRIUM | 54691043 | 54691169 | 54691083 | 54691083 | Missense_Mutation | G | A | p.T98M |
| NCIH524_LUNG | 54691043 | 54691169 | 54691099 | 54691099 | Missense_Mutation | C | A | p.G93C |
| NCIH211_LUNG | 54691043 | 54691169 | 54691106 | 54691106 | Missense_Mutation | G | T | p.S90R |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54691043 | 54691169 | 54691110 | 54691110 | Missense_Mutation | A | G | p.L89P |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54691043 | 54691169 | 54691111 | 54691111 | Missense_Mutation | G | A | p.L89F |
| SISO_CERVIX | 54691043 | 54691169 | 54691132 | 54691132 | Missense_Mutation | A | G | p.Y82H |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54691043 | 54691169 | 54691132 | 54691132 | Missense_Mutation | A | G | p.Y82H |
| MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54692071 | 54692200 | 54692083 | 54692083 | Missense_Mutation | T | A | p.Q65L |
| SNU46_UPPER_AERODIGESTIVE_TRACT | 54684490 | 54684850 | 54684490 | 54684490 | Splice_Site | C | T | p.S285N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MBOAT7 |
| 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 MBOAT7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MBOAT7 |
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RelatedDrugs for MBOAT7 |
| 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 MBOAT7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MBOAT7 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
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