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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 ADAM2 |
 Gene summary |
| Gene information | Gene symbol | ADAM2 | Gene ID | 2515 |
| Gene name | ADAM metallopeptidase domain 2 | |
| Synonyms | CRYN1|CRYN2|CT15|FTNB|PH-30b|PH30|PH30-beta | |
| Cytomap | 8p11.22 | |
| Type of gene | protein-coding | |
| Description | disintegrin and metalloproteinase domain-containing protein 2cancer/testis antigen 15fertilin subunit beta | |
| Modification date | 20180519 | |
| UniProtAcc | Q99965 | |
| Context | PubMed: ADAM2 [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 ADAM2 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 ADAM2 |
| 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 ADAM2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489402 | 8 | 39607185:39607263:39613246:39613340:39618694:39618800 | 39613246:39613340 | ENSG00000104755.10 | ENST00000379853.2 |
| exon_skip_489404 | 8 | 39607185:39607263:39613246:39613430:39618694:39618800 | 39613246:39613430 | ENSG00000104755.10 | ENST00000347580.4,ENST00000265708.4 |
| exon_skip_489406 | 8 | 39607185:39607263:39618699:39618800:39624366:39624562 | 39618699:39618800 | ENSG00000104755.10 | ENST00000521880.1 |
| exon_skip_489407 | 8 | 39646187:39646259:39666928:39666985:39678520:39678689 | 39666928:39666985 | ENSG00000104755.10 | ENST00000521880.1,ENST00000265708.4 |
| exon_skip_489409 | 8 | 39666928:39666985:39678520:39678689:39679104:39679181 | 39678520:39678689 | ENSG00000104755.10 | ENST00000521880.1,ENST00000265708.4 |
| exon_skip_489410 | 8 | 39675420:39675611:39678520:39678689:39679104:39679181 | 39678520:39678689 | ENSG00000104755.10 | ENST00000523181.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ADAM2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489402 | 8 | 39607185:39607263:39613246:39613340:39618694:39618800 | 39613246:39613340 | ENSG00000104755.10 | ENST00000379853.2 |
| exon_skip_489404 | 8 | 39607185:39607263:39613246:39613430:39618694:39618800 | 39613246:39613430 | ENSG00000104755.10 | ENST00000347580.4,ENST00000265708.4 |
| exon_skip_489406 | 8 | 39607185:39607263:39618699:39618800:39624366:39624562 | 39618699:39618800 | ENSG00000104755.10 | ENST00000521880.1 |
| exon_skip_489407 | 8 | 39646187:39646259:39666928:39666985:39678520:39678689 | 39666928:39666985 | ENSG00000104755.10 | ENST00000265708.4,ENST00000521880.1 |
| 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 ADAM2 |
| 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 |
| ENST00000265708 | 39613246 | 39613430 | Frame-shift |
| ENST00000265708 | 39678520 | 39678689 | Frame-shift |
| ENST00000265708 | 39666928 | 39666985 | 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 |
| ENST00000265708 | 39613246 | 39613430 | Frame-shift |
| ENST00000265708 | 39666928 | 39666985 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ADAM2 |
| 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 |
| ENST00000265708 | 2689 | 735 | 39666928 | 39666985 | 618 | 674 | 171 | 190 |
| 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 |
| ENST00000265708 | 2689 | 735 | 39666928 | 39666985 | 618 | 674 | 171 | 190 |
| 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 |
| Q99965 | 171 | 190 | 172 | 190 | Alternative sequence | ID=VSP_005471;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99965 | 171 | 190 | 175 | 735 | Chain | ID=PRO_0000029043;Note=Disintegrin and metalloproteinase domain-containing protein 2 |
| Q99965 | 171 | 190 | 178 | 375 | Domain | Note=Peptidase M12B;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00276 |
| Q99965 | 171 | 190 | 17 | 174 | Propeptide | ID=PRO_0000029042 |
| Q99965 | 171 | 190 | 175 | 686 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q99965 | 171 | 190 | 172 | 190 | Alternative sequence | ID=VSP_005471;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q99965 | 171 | 190 | 175 | 735 | Chain | ID=PRO_0000029043;Note=Disintegrin and metalloproteinase domain-containing protein 2 |
| Q99965 | 171 | 190 | 178 | 375 | Domain | Note=Peptidase M12B;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00276 |
| Q99965 | 171 | 190 | 17 | 174 | Propeptide | ID=PRO_0000029042 |
| Q99965 | 171 | 190 | 175 | 686 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ADAM2 |
| - 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 |
| LUAD | TCGA-NJ-A55O-01 | 39618700 | 39618800 | 39618747 | 39618747 | Frame_Shift_Del | C | - | p.V521fs | |
| LUSC | TCGA-70-6722-01 | exon_skip_489404 | 39613247 | 39613430 | 39613369 | 39613369 | Nonsense_Mutation | T | A | p.R559* |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_489404 | 39613247 | 39613430 | 39613417 | 39613417 | Nonsense_Mutation | C | A | p.G543* |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_489404 | 39613247 | 39613430 | 39613417 | 39613417 | Nonsense_Mutation | C | A | p.G543X |
| - 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 |
| NCIH2066_LUNG | 39613247 | 39613340 | 39613280 | 39613280 | Missense_Mutation | C | A | p.W588C |
| NCIH2066_LUNG | 39613247 | 39613430 | 39613280 | 39613280 | Missense_Mutation | C | A | p.W588C |
| HEC108_ENDOMETRIUM | 39613247 | 39613340 | 39613302 | 39613302 | Missense_Mutation | T | C | p.H581R |
| HEC108_ENDOMETRIUM | 39613247 | 39613430 | 39613302 | 39613302 | Missense_Mutation | T | C | p.H581R |
| NCIH1770_LUNG | 39613247 | 39613430 | 39613372 | 39613372 | Missense_Mutation | G | A | p.P558S |
| HCC2998_LARGE_INTESTINE | 39613247 | 39613430 | 39613389 | 39613389 | Missense_Mutation | T | G | p.K552T |
| NCIH1793_LUNG | 39613247 | 39613430 | 39613404 | 39613404 | Missense_Mutation | C | A | p.C547F |
| A4FUK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39613247 | 39613430 | 39613417 | 39613417 | Missense_Mutation | C | T | p.G543R |
| SKMG1_CENTRAL_NERVOUS_SYSTEM | 39613247 | 39613430 | 39613426 | 39613426 | Missense_Mutation | G | T | p.L540M |
| SNU201_CENTRAL_NERVOUS_SYSTEM | 39666929 | 39666985 | 39666970 | 39666970 | Missense_Mutation | C | T | p.A177T |
| NCIH23_LUNG | 39678521 | 39678689 | 39678523 | 39678523 | Missense_Mutation | C | G | p.E171Q |
| LNCAPCLONEFGC_PROSTATE | 39678521 | 39678689 | 39678582 | 39678582 | Missense_Mutation | G | A | p.S151F |
| LNCAPCLONEFGC_PROSTATE | 39678521 | 39678689 | 39678589 | 39678589 | Missense_Mutation | C | A | p.D149Y |
| SKLU1_LUNG | 39678521 | 39678689 | 39678591 | 39678591 | Missense_Mutation | G | A | p.A148V |
| VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39678521 | 39678689 | 39678591 | 39678591 | Missense_Mutation | G | A | p.A148V |
| HEC251_ENDOMETRIUM | 39678521 | 39678689 | 39678618 | 39678618 | Missense_Mutation | A | G | p.V139A |
| HCT15_LARGE_INTESTINE | 39678521 | 39678689 | 39678646 | 39678646 | Missense_Mutation | G | T | p.L130M |
| COLO684_ENDOMETRIUM | 39678521 | 39678689 | 39678667 | 39678667 | Missense_Mutation | C | T | p.V123I |
| NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 39613247 | 39613430 | 39613418 | 39613418 | Nonsense_Mutation | G | T | p.C542* |
| SKUT1_SOFT_TISSUE | 39678521 | 39678689 | 39678575 | 39678575 | Nonsense_Mutation | A | C | p.Y153* |
| RH41_SOFT_TISSUE | 39613247 | 39613430 | 39613430 | 39613430 | Splice_Site | G | C | p.D538E |
| NCIH64_LUNG | 39666929 | 39666985 | 39666929 | 39666929 | Splice_Site | C | A | p.L190F |
| SKMEL24_SKIN | 39678521 | 39678689 | 39678689 | 39678689 | Splice_Site | C | T | p.R115R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ADAM2 |
| 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 ADAM2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ADAM2 |
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RelatedDrugs for ADAM2 |
| 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 ADAM2 |
| 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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