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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 BMP7 |
 Gene summary |
| Gene information | Gene symbol | BMP7 | Gene ID | 655 |
| Gene name | bone morphogenetic protein 7 | |
| Synonyms | OP-1 | |
| Cytomap | 20q13.31 | |
| Type of gene | protein-coding | |
| Description | bone morphogenetic protein 7osteogenic protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | P18075 | |
| Context | PubMed: BMP7 [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 |
| BMP7 | GO:0010628 | positive regulation of gene expression | 28124060 |
| BMP7 | GO:0010800 | positive regulation of peptidyl-threonine phosphorylation | 19736306 |
| BMP7 | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 9311995|16049014|17244894|19736306 |
| BMP7 | GO:0030501 | positive regulation of bone mineralization | 18436533 |
| BMP7 | GO:0030509 | BMP signaling pathway | 16049014|18436533 |
| BMP7 | GO:0034116 | positive regulation of heterotypic cell-cell adhesion | 15100360 |
| BMP7 | GO:0034504 | protein localization to nucleus | 17244894 |
| BMP7 | GO:0042326 | negative regulation of phosphorylation | 17244894 |
| BMP7 | GO:0043407 | negative regulation of MAP kinase activity | 17244894 |
| BMP7 | GO:0045665 | negative regulation of neuron differentiation | 16325379 |
| BMP7 | GO:0045669 | positive regulation of osteoblast differentiation | 18436533 |
| BMP7 | GO:0045786 | negative regulation of cell cycle | 11502704 |
| BMP7 | GO:0045839 | negative regulation of mitotic nuclear division | 17244894 |
| BMP7 | GO:0045892 | negative regulation of transcription, DNA-templated | 15100360|17244894 |
| BMP7 | GO:0045893 | positive regulation of transcription, DNA-templated | 14517293|15100360|16049014 |
| BMP7 | GO:0048762 | mesenchymal cell differentiation | 9693150 |
| BMP7 | GO:0048812 | neuron projection morphogenesis | 16325379 |
| BMP7 | GO:0060393 | regulation of pathway-restricted SMAD protein phosphorylation | 16049014 |
| BMP7 | GO:0060395 | SMAD protein signal transduction | 17244894 |
| BMP7 | GO:0060548 | negative regulation of cell death | 12631064 |
| BMP7 | GO:0070487 | monocyte aggregation | 15100360 |
| BMP7 | GO:0072125 | negative regulation of glomerular mesangial cell proliferation | 17244894 |
| BMP7 | GO:1900006 | positive regulation of dendrite development | 11580864 |
| BMP7 | GO:1900106 | positive regulation of hyaluranon cable assembly | 15100360 |
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Exon skipping events across known transcript of Ensembl for BMP7 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 BMP7 |
| 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 BMP7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_358248 | 20 | 55746094:55746164:55748255:55748366:55749986:55750063 | 55748255:55748366 | ENSG00000101144.8 | ENST00000395863.3,ENST00000460817.1,ENST00000395864.3 |
| exon_skip_358256 | 20 | 55748275:55748366:55749986:55750063:55758777:55758975 | 55749986:55750063 | ENSG00000101144.8 | ENST00000395863.3,ENST00000433911.1,ENST00000450594.2,ENST00000460817.1 |
| exon_skip_358257 | 20 | 55748275:55748366:55749986:55750063:55777530:55777679 | 55749986:55750063 | ENSG00000101144.8 | ENST00000395864.3 |
| exon_skip_358261 | 20 | 55749986:55750063:55758777:55758975:55777530:55777679 | 55758777:55758975 | ENSG00000101144.8 | ENST00000395863.3,ENST00000433911.1,ENST00000450594.2,ENST00000460817.1 |
| exon_skip_358262 | 20 | 55758777:55758975:55777530:55777679:55803284:55803477 | 55777530:55777679 | ENSG00000101144.8 | ENST00000395863.3,ENST00000450594.2 |
| exon_skip_358264 | 20 | 55777530:55777679:55800910:55801018:55803284:55803477 | 55800910:55801018 | ENSG00000101144.8 | ENST00000433911.1 |
| exon_skip_358266 | 20 | 55777530:55777679:55803284:55803477:55840760:55840834 | 55803284:55803477 | ENSG00000101144.8 | ENST00000450594.2,ENST00000395864.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BMP7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_358248 | 20 | 55746094:55746164:55748255:55748366:55749986:55750063 | 55748255:55748366 | ENSG00000101144.8 | ENST00000395863.3,ENST00000395864.3,ENST00000460817.1 |
| exon_skip_358256 | 20 | 55748275:55748366:55749986:55750063:55758777:55758975 | 55749986:55750063 | ENSG00000101144.8 | ENST00000395863.3,ENST00000460817.1,ENST00000450594.2,ENST00000433911.1 |
| exon_skip_358257 | 20 | 55748275:55748366:55749986:55750063:55777530:55777679 | 55749986:55750063 | ENSG00000101144.8 | ENST00000395864.3 |
| exon_skip_358261 | 20 | 55749986:55750063:55758777:55758975:55777530:55777679 | 55758777:55758975 | ENSG00000101144.8 | ENST00000395863.3,ENST00000460817.1,ENST00000450594.2,ENST00000433911.1 |
| exon_skip_358262 | 20 | 55758777:55758975:55777530:55777679:55803284:55803477 | 55777530:55777679 | ENSG00000101144.8 | ENST00000395863.3,ENST00000450594.2 |
| exon_skip_358264 | 20 | 55777530:55777679:55800910:55801018:55803284:55803477 | 55800910:55801018 | ENSG00000101144.8 | ENST00000433911.1 |
| exon_skip_358266 | 20 | 55777530:55777679:55803284:55803477:55840760:55840834 | 55803284:55803477 | ENSG00000101144.8 | ENST00000395864.3,ENST00000450594.2 |
| 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 BMP7 |
| 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 |
| ENST00000395863 | 55749986 | 55750063 | Frame-shift |
| ENST00000395863 | 55777530 | 55777679 | Frame-shift |
| ENST00000395863 | 55748255 | 55748366 | In-frame |
| ENST00000395863 | 55758777 | 55758975 | 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 |
| ENST00000395863 | 55749986 | 55750063 | Frame-shift |
| ENST00000395863 | 55777530 | 55777679 | Frame-shift |
| ENST00000395863 | 55748255 | 55748366 | In-frame |
| ENST00000395863 | 55758777 | 55758975 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BMP7 |
| 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 |
| ENST00000395863 | 4030 | 431 | 55758777 | 55758975 | 1267 | 1464 | 253 | 319 |
| ENST00000395863 | 4030 | 431 | 55748255 | 55748366 | 1542 | 1652 | 345 | 382 |
| 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 |
| ENST00000395863 | 4030 | 431 | 55758777 | 55758975 | 1267 | 1464 | 253 | 319 |
| ENST00000395863 | 4030 | 431 | 55748255 | 55748366 | 1542 | 1652 | 345 | 382 |
| 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 |
| P18075 | 253 | 319 | 293 | 431 | Chain | ID=PRO_0000033877;Note=Bone morphogenetic protein 7 |
| P18075 | 253 | 319 | 302 | 302 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P18075 | 253 | 319 | 30 | 292 | Propeptide | ID=PRO_0000033876;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17977014;Dbxref=PMID:17977014 |
| P18075 | 345 | 382 | 348 | 350 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LXI |
| P18075 | 345 | 382 | 352 | 355 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LXI |
| P18075 | 345 | 382 | 358 | 362 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LXI |
| P18075 | 345 | 382 | 365 | 368 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1M4U |
| P18075 | 345 | 382 | 293 | 431 | Chain | ID=PRO_0000033877;Note=Bone morphogenetic protein 7 |
| P18075 | 345 | 382 | 330 | 396 | Disulfide bond | . |
| P18075 | 345 | 382 | 359 | 428 | Disulfide bond | . |
| P18075 | 345 | 382 | 363 | 430 | Disulfide bond | . |
| P18075 | 345 | 382 | 372 | 372 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P18075 | 345 | 382 | 369 | 371 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LXI |
| P18075 | 345 | 382 | 375 | 386 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LXI |
| P18075 | 345 | 382 | 345 | 347 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LXI |
| 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 |
| P18075 | 253 | 319 | 293 | 431 | Chain | ID=PRO_0000033877;Note=Bone morphogenetic protein 7 |
| P18075 | 253 | 319 | 302 | 302 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P18075 | 253 | 319 | 30 | 292 | Propeptide | ID=PRO_0000033876;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17977014;Dbxref=PMID:17977014 |
| P18075 | 345 | 382 | 348 | 350 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LXI |
| P18075 | 345 | 382 | 352 | 355 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LXI |
| P18075 | 345 | 382 | 358 | 362 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LXI |
| P18075 | 345 | 382 | 365 | 368 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1M4U |
| P18075 | 345 | 382 | 293 | 431 | Chain | ID=PRO_0000033877;Note=Bone morphogenetic protein 7 |
| P18075 | 345 | 382 | 330 | 396 | Disulfide bond | . |
| P18075 | 345 | 382 | 359 | 428 | Disulfide bond | . |
| P18075 | 345 | 382 | 363 | 430 | Disulfide bond | . |
| P18075 | 345 | 382 | 372 | 372 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P18075 | 345 | 382 | 369 | 371 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LXI |
| P18075 | 345 | 382 | 375 | 386 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LXI |
| P18075 | 345 | 382 | 345 | 347 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1LXI |
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SNVs in the skipped exons for BMP7 |
| - 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_358248 | 55748256 | 55748366 | 55748295 | 55748295 | Frame_Shift_Del | G | - | p.S369fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_358248 | 55748256 | 55748366 | 55748318 | 55748318 | Frame_Shift_Del | C | - | p.E362fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_358248 | 55748256 | 55748366 | 55748318 | 55748318 | Frame_Shift_Del | C | - | p.E362fs |
| LUAD | TCGA-64-1679-01 | exon_skip_358262 | 55777531 | 55777679 | 55777651 | 55777651 | Frame_Shift_Del | G | - | p.R214fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_358266 | 55803285 | 55803477 | 55803397 | 55803397 | Frame_Shift_Del | C | - | p.E167fs |
| LUAD | TCGA-NJ-A55R-01 | exon_skip_358261 | 55758778 | 55758975 | 55758925 | 55758925 | Nonsense_Mutation | G | A | p.Q271* |
| SKCM | TCGA-D3-A8GL-06 | exon_skip_358266 | 55803285 | 55803477 | 55803436 | 55803436 | Nonsense_Mutation | G | A | p.R154* |
| HNSC | TCGA-CV-6942-01 | exon_skip_358256 exon_skip_358257 | 55749987 | 55750063 | 55750064 | 55750064 | Splice_Site | C | G | p.E320_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 |
| SN12C_KIDNEY | 55748256 | 55748366 | 55748284 | 55748284 | Missense_Mutation | G | T | p.A373D |
| SNGM_ENDOMETRIUM | 55748256 | 55748366 | 55748290 | 55748290 | Missense_Mutation | A | G | p.M371T |
| DV90_LUNG | 55748256 | 55748366 | 55748336 | 55748336 | Missense_Mutation | C | T | p.A356T |
| TGBC11TKB_STOMACH | 55748256 | 55748366 | 55748356 | 55748356 | Missense_Mutation | A | G | p.I349T |
| SNU1040_LARGE_INTESTINE | 55749987 | 55750063 | 55750022 | 55750022 | Missense_Mutation | C | T | p.E334K |
| SNU324_PANCREAS | 55758778 | 55758975 | 55758784 | 55758784 | Missense_Mutation | C | T | p.V318M |
| KMRC1_KIDNEY | 55758778 | 55758975 | 55758828 | 55758828 | Missense_Mutation | C | T | p.R303H |
| KPNYN_AUTONOMIC_GANGLIA | 55758778 | 55758975 | 55758837 | 55758837 | Missense_Mutation | C | A | p.S300I |
| LU99_LUNG | 55758778 | 55758975 | 55758925 | 55758925 | Missense_Mutation | G | C | p.Q271E |
| HCC1438_LUNG | 55758778 | 55758975 | 55758970 | 55758970 | Missense_Mutation | T | A | p.S256C |
| NCIH2023_LUNG | 55777531 | 55777679 | 55777534 | 55777534 | Missense_Mutation | C | T | p.D253N |
| HEC1_ENDOMETRIUM | 55777531 | 55777679 | 55777575 | 55777575 | Missense_Mutation | G | A | p.P239L |
| SNGM_ENDOMETRIUM | 55777531 | 55777679 | 55777582 | 55777582 | Missense_Mutation | C | T | p.V237I |
| HEC59_ENDOMETRIUM | 55777531 | 55777679 | 55777603 | 55777603 | Missense_Mutation | C | T | p.A230T |
| COLO205_LARGE_INTESTINE | 55777531 | 55777679 | 55777617 | 55777617 | Missense_Mutation | A | C | p.V225G |
| HT1376_URINARY_TRACT | 55777531 | 55777679 | 55777642 | 55777642 | Missense_Mutation | A | G | p.W217R |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 55803285 | 55803477 | 55803330 | 55803330 | Missense_Mutation | G | A | p.T189M |
| A375_SKIN | 55803285 | 55803477 | 55803361 | 55803361 | Missense_Mutation | C | T | p.D179N |
| HSC4_UPPER_AERODIGESTIVE_TRACT | 55803285 | 55803477 | 55803458 | 55803458 | Missense_Mutation | G | C | p.F146L |
| CA922_UPPER_AERODIGESTIVE_TRACT | 55803285 | 55803477 | 55803461 | 55803461 | Missense_Mutation | T | G | p.E145D |
| MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55803285 | 55803477 | 55803463 | 55803463 | Missense_Mutation | C | T | p.E145K |
| SW684_SOFT_TISSUE | 55803285 | 55803477 | 55803463 | 55803463 | Missense_Mutation | C | T | p.E145K |
| MOGGUVW_CENTRAL_NERVOUS_SYSTEM | 55803285 | 55803477 | 55803285 | 55803285 | Splice_Site | C | T | p.R204K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BMP7 |
| 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 BMP7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BMP7 |
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RelatedDrugs for BMP7 |
| 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 BMP7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BMP7 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| BMP7 | C0005974 | Bone Resorption | 1 | CTD_human |
| BMP7 | C0014175 | Endometriosis | 1 | CTD_human |
| BMP7 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| BMP7 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| BMP7 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| BMP7 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| BMP7 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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