|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for ANKRD2 |
 Gene summary |
| Gene information | Gene symbol | ANKRD2 | Gene ID | 26287 |
| Gene name | ankyrin repeat domain 2 | |
| Synonyms | ARPP | |
| Cytomap | 10q24.2 | |
| Type of gene | protein-coding | |
| Description | ankyrin repeat domain-containing protein 2ankyrin repeat domain 2 (stretch responsive muscle)skeletal muscle ankyrin repeat protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q9GZV1 | |
| Context | PubMed: ANKRD2 [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 |
| ANKRD2 | GO:0043619 | regulation of transcription from RNA polymerase II promoter in response to oxidative stress | 24434510 |
Top |
Exon skipping events across known transcript of Ensembl for ANKRD2 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. |
 |
Top |
Gene isoform structures and expression levels for ANKRD2 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ANKRD2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_44135 | 10 | 99341072:99341171:99342071:99342170:99342360:99342459 | 99342071:99342170 | ENSG00000165887.7 | ENST00000307518.5,ENST00000370655.1 |
| exon_skip_44136 | 10 | 99341072:99341171:99342360:99342459:99343332:99343616 | 99342360:99342459 | ENSG00000165887.7 | ENST00000298808.5,ENST00000455090.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ANKRD2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_44135 | 10 | 99341072:99341171:99342071:99342170:99342360:99342459 | 99342071:99342170 | ENSG00000165887.7 | ENST00000307518.5,ENST00000370655.1 |
| exon_skip_44136 | 10 | 99341072:99341171:99342360:99342459:99343332:99343616 | 99342360:99342459 | ENSG00000165887.7 | ENST00000298808.5,ENST00000455090.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ANKRD2 |
| 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 |
| ENST00000307518 | 99342071 | 99342170 | 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 |
| ENST00000307518 | 99342071 | 99342170 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ANKRD2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000307518 | 1501 | 360 | 99342071 | 99342170 | 1003 | 1101 | 245 | 278 |
| 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 |
| ENST00000307518 | 1501 | 360 | 99342071 | 99342170 | 1003 | 1101 | 245 | 278 |
| 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 |
| Q9GZV1 | 245 | 278 | 246 | 278 | Alternative sequence | ID=VSP_000269;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9GZV1 | 245 | 278 | 1 | 360 | Chain | ID=PRO_0000066897;Note=Ankyrin repeat domain-containing protein 2 |
| Q9GZV1 | 245 | 278 | 246 | 275 | Repeat | Note=ANK 4 |
| 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 |
| Q9GZV1 | 245 | 278 | 246 | 278 | Alternative sequence | ID=VSP_000269;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9GZV1 | 245 | 278 | 1 | 360 | Chain | ID=PRO_0000066897;Note=Ankyrin repeat domain-containing protein 2 |
| Q9GZV1 | 245 | 278 | 246 | 275 | Repeat | Note=ANK 4 |
Top |
SNVs in the skipped exons for ANKRD2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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-G3-A3CJ-01 | exon_skip_44136 | 99342361 | 99342459 | 99342364 | 99342364 | Frame_Shift_Del | G | - | p.G280fs |
| KICH | TCGA-KL-8339-01 | exon_skip_44135 | 99342072 | 99342170 | 99342111 | 99342111 | Nonsense_Mutation | C | T | p.Q259* |
| - 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 |
| HEC1A_ENDOMETRIUM | 99342072 | 99342170 | 99342127 | 99342127 | Missense_Mutation | A | G | p.E264G |
| HEC1_ENDOMETRIUM | 99342072 | 99342170 | 99342127 | 99342127 | Missense_Mutation | A | G | p.E264G |
| HEC1B_ENDOMETRIUM | 99342072 | 99342170 | 99342127 | 99342127 | Missense_Mutation | A | G | p.E264G |
| RL952_ENDOMETRIUM | 99342361 | 99342459 | 99342401 | 99342401 | Missense_Mutation | G | A | p.R292H |
| K5_THYROID | 99342361 | 99342459 | 99342449 | 99342449 | Missense_Mutation | C | T | p.T308I |
| NKL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99342072 | 99342170 | 99342072 | 99342072 | Splice_Site | C | T | p.L246L |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKRD2 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANKRD2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANKRD2 |
Top |
RelatedDrugs for ANKRD2 |
| 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 |
Top |
RelatedDiseases for ANKRD2 |
| 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)
|