|
||||||
|
 | |
| |
| |
| |
| 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 ANKRD28 |
 Gene summary |
| Gene information | Gene symbol | ANKRD28 | Gene ID | 23243 |
| Gene name | ankyrin repeat domain 28 | |
| Synonyms | PITK|PPP1R65 | |
| Cytomap | 3p25.1 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit APP6-ARS-Aankyrin repeat domain-containing protein 28phosphatase interactor targeting K proteinphosphatase interactor targeting protein hnRNP Kprotein phosphatase 1, regulatory | |
| Modification date | 20180519 | |
| UniProtAcc | O15084 | |
| Context | PubMed: ANKRD28 [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 |
Top |
Exon skipping events across known transcript of Ensembl for ANKRD28 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 ANKRD28 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ANKRD28 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_381734 | 3 | 15708745:15709812:15711616:15712063:15717404:15717496 | 15711616:15712063 | ENSG00000206560.6 | ENST00000412318.1 |
| exon_skip_381737 | 3 | 15711616:15712063:15717404:15717496:15718480:15718563 | 15717404:15717496 | ENSG00000206560.6 | ENST00000399451.2,ENST00000497037.1,ENST00000383777.1,ENST00000412318.1 |
| exon_skip_381740 | 3 | 15719715:15719861:15720807:15720891:15720982:15721070 | 15720807:15720891 | ENSG00000206560.6 | ENST00000399451.2,ENST00000497037.1,ENST00000383777.1,ENST00000412318.1 |
| exon_skip_381743 | 3 | 15727728:15727816:15731525:15731727:15736245:15736320 | 15731525:15731727 | ENSG00000206560.6 | ENST00000399451.2,ENST00000451422.1,ENST00000498524.1,ENST00000497037.1,ENST00000383777.1,ENST00000412318.1 |
| exon_skip_381745 | 3 | 15755033:15755148:15756084:15756163:15762421:15762629 | 15756084:15756163 | ENSG00000206560.6 | ENST00000399451.2,ENST00000451422.1,ENST00000498524.1,ENST00000497037.1,ENST00000383777.1,ENST00000412318.1 |
| exon_skip_381749 | 3 | 15762607:15762634:15765888:15766031:15776916:15777004 | 15765888:15766031 | ENSG00000206560.6 | ENST00000399451.2,ENST00000451422.1,ENST00000498524.1,ENST00000497037.1,ENST00000383777.1,ENST00000476472.1,ENST00000412318.1 |
| exon_skip_381752 | 3 | 15776916:15777004:15778539:15778740:15793256:15793327 | 15778539:15778740 | ENSG00000206560.6 | ENST00000399451.2,ENST00000498524.1,ENST00000497037.1,ENST00000383777.1,ENST00000460278.1,ENST00000476472.1,ENST00000412318.1 |
| exon_skip_381753 | 3 | 15776916:15777004:15778539:15778740:15807740:15807819 | 15778539:15778740 | ENSG00000206560.6 | ENST00000451422.1 |
| exon_skip_381755 | 3 | 15778545:15778740:15793256:15793327:15807740:15807819 | 15793256:15793327 | ENSG00000206560.6 | ENST00000399451.2,ENST00000498524.1,ENST00000439830.1,ENST00000497037.1,ENST00000383777.1,ENST00000412318.1 |
| exon_skip_381758 | 3 | 15778545:15778740:15807740:15807819:15836729:15836813 | 15807740:15807819 | ENSG00000206560.6 | ENST00000451422.1 |
| exon_skip_381761 | 3 | 15793256:15793327:15807740:15807819:15836729:15836813 | 15807740:15807819 | ENSG00000206560.6 | ENST00000399451.2,ENST00000498524.1,ENST00000439830.1,ENST00000497037.1,ENST00000383777.1,ENST00000412318.1 |
| exon_skip_381767 | 3 | 15807740:15807819:15836729:15836813:15855746:15855816 | 15836729:15836813 | ENSG00000206560.6 | ENST00000439830.1 |
| exon_skip_381768 | 3 | 15807740:15807819:15836729:15836813:15900883:15900929 | 15836729:15836813 | ENSG00000206560.6 | ENST00000412318.1 |
| exon_skip_381781 | 3 | 15836729:15836813:15855746:15855816:15900883:15900929 | 15855746:15855816 | ENSG00000206560.6 | ENST00000439830.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ANKRD28 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_381734 | 3 | 15708745:15709812:15711616:15712063:15717404:15717496 | 15711616:15712063 | ENSG00000206560.6 | ENST00000412318.1 |
| exon_skip_381737 | 3 | 15711616:15712063:15717404:15717496:15718480:15718563 | 15717404:15717496 | ENSG00000206560.6 | ENST00000399451.2,ENST00000383777.1,ENST00000412318.1,ENST00000497037.1 |
| exon_skip_381740 | 3 | 15719715:15719861:15720807:15720891:15720982:15721070 | 15720807:15720891 | ENSG00000206560.6 | ENST00000399451.2,ENST00000383777.1,ENST00000412318.1,ENST00000497037.1 |
| exon_skip_381743 | 3 | 15727728:15727816:15731525:15731727:15736245:15736320 | 15731525:15731727 | ENSG00000206560.6 | ENST00000399451.2,ENST00000383777.1,ENST00000412318.1,ENST00000497037.1,ENST00000451422.1,ENST00000498524.1 |
| exon_skip_381745 | 3 | 15755033:15755148:15756084:15756163:15762421:15762629 | 15756084:15756163 | ENSG00000206560.6 | ENST00000399451.2,ENST00000383777.1,ENST00000412318.1,ENST00000497037.1,ENST00000451422.1,ENST00000498524.1 |
| exon_skip_381749 | 3 | 15762607:15762634:15765888:15766031:15776916:15777004 | 15765888:15766031 | ENSG00000206560.6 | ENST00000399451.2,ENST00000383777.1,ENST00000412318.1,ENST00000497037.1,ENST00000451422.1,ENST00000498524.1,ENST00000476472.1 |
| exon_skip_381752 | 3 | 15776916:15777004:15778539:15778740:15793256:15793327 | 15778539:15778740 | ENSG00000206560.6 | ENST00000399451.2,ENST00000383777.1,ENST00000412318.1,ENST00000497037.1,ENST00000498524.1,ENST00000476472.1,ENST00000460278.1 |
| exon_skip_381753 | 3 | 15776916:15777004:15778539:15778740:15807740:15807819 | 15778539:15778740 | ENSG00000206560.6 | ENST00000451422.1 |
| exon_skip_381755 | 3 | 15778545:15778740:15793256:15793327:15807740:15807819 | 15793256:15793327 | ENSG00000206560.6 | ENST00000399451.2,ENST00000383777.1,ENST00000412318.1,ENST00000497037.1,ENST00000498524.1,ENST00000439830.1 |
| exon_skip_381758 | 3 | 15778545:15778740:15807740:15807819:15836729:15836813 | 15807740:15807819 | ENSG00000206560.6 | ENST00000451422.1 |
| exon_skip_381761 | 3 | 15793256:15793327:15807740:15807819:15836729:15836813 | 15807740:15807819 | ENSG00000206560.6 | ENST00000399451.2,ENST00000383777.1,ENST00000412318.1,ENST00000497037.1,ENST00000498524.1,ENST00000439830.1 |
| exon_skip_381767 | 3 | 15807740:15807819:15836729:15836813:15855746:15855816 | 15836729:15836813 | ENSG00000206560.6 | ENST00000439830.1 |
| exon_skip_381768 | 3 | 15807740:15807819:15836729:15836813:15900883:15900929 | 15836729:15836813 | ENSG00000206560.6 | ENST00000412318.1 |
| exon_skip_381781 | 3 | 15836729:15836813:15855746:15855816:15900883:15900929 | 15855746:15855816 | ENSG00000206560.6 | ENST00000439830.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ANKRD28 |
| 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 |
Top |
Infer the effects of exon skipping event on protein functional features for ANKRD28 |
| 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 |
| 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 |
Top |
SNVs in the skipped exons for ANKRD28 |
| - 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. |
ANKRD28_LIHC_exon_skip_381743_psi_boxplot.png |
ANKRD28_PAAD_exon_skip_381743_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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_381740 | 15720808 | 15720891 | 15720813 | 15720813 | Frame_Shift_Del | T | - | p.K822fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_381743 | 15731526 | 15731727 | 15731563 | 15731563 | Frame_Shift_Del | T | - | p.K612fs |
| SKCM | TCGA-YD-A89C-06 | exon_skip_381752 exon_skip_381753 | 15778540 | 15778740 | 15778590 | 15778590 | Nonsense_Mutation | G | A | p.R138* |
| COAD | TCGA-CM-4746-01 | exon_skip_381761 exon_skip_381758 | 15807741 | 15807819 | 15807807 | 15807807 | Nonsense_Mutation | G | A | p.R42X |
| READ | TCGA-EI-6917-01 | exon_skip_381768 exon_skip_381767 | 15836730 | 15836813 | 15836768 | 15836768 | Nonsense_Mutation | G | A | p.R25X |
| UCEC | TCGA-AP-A056-01 | exon_skip_381768 exon_skip_381767 | 15836730 | 15836813 | 15836768 | 15836768 | Nonsense_Mutation | G | A | p.R25* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_381768 exon_skip_381767 | 15836730 | 15836813 | 15836768 | 15836768 | Nonsense_Mutation | G | A | p.R25* |
| PAAD | TCGA-IB-8127-01 | exon_skip_381743 | 15731526 | 15731727 | 15731728 | 15731728 | Splice_Site | C | T | . |
| PAAD | TCGA-IB-7651-01 | exon_skip_381745 | 15756085 | 15756163 | 15756164 | 15756164 | Splice_Site | C | T | . |
| ACC | TCGA-PK-A5HB-01 | exon_skip_381745 | 15756085 | 15756163 | 15756165 | 15756166 | Splice_Site | - | G | . |
| COAD | TCGA-CK-5916-01 | exon_skip_381745 | 15756085 | 15756163 | 15756165 | 15756166 | Splice_Site | - | G | . |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_381745 | 15756085 | 15756163 | 15756165 | 15756166 | Splice_Site | - | G | p.S303_splice |
| UCEC | TCGA-BG-A0M9-01 | exon_skip_381745 | 15756085 | 15756163 | 15756165 | 15756166 | Splice_Site | - | G | p.S303_splice |
| UCEC | TCGA-BG-A0MQ-01 | exon_skip_381745 | 15756085 | 15756163 | 15756165 | 15756166 | Splice_Site | - | G | p.S303_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-IB-8127-01 |
| Cancer type: PAAD | |
| ESID: exon_skip_381743 | |
| Skipped exon start: 15731526 | |
| Skipped exon end: 15731727 | |
| Mutation start: 15731728 | |
| Mutation end: 15731728 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: . | |
exon_skip_112640_PAAD_TCGA-IB-8127-01.png | |
exon_skip_381743_PAAD_TCGA-IB-8127-01.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 |
| GEO_LARGE_INTESTINE | 15731526 | 15731727 | 15731623 | 15731623 | Frame_Shift_Del | A | - | p.F592fs |
| MFE319_ENDOMETRIUM | 15711617 | 15712063 | 15711887 | 15711887 | Missense_Mutation | T | C | p.M1018V |
| HEC251_ENDOMETRIUM | 15711617 | 15712063 | 15711896 | 15711896 | Missense_Mutation | A | C | p.L1015V |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15711617 | 15712063 | 15712058 | 15712058 | Missense_Mutation | T | C | p.T961A |
| SKN3_UPPER_AERODIGESTIVE_TRACT | 15717405 | 15717496 | 15717450 | 15717450 | Missense_Mutation | C | T | p.E944K |
| LNCAPCLONEFGC_PROSTATE | 15720808 | 15720891 | 15720835 | 15720835 | Missense_Mutation | A | C | p.I815S |
| NCIH1563_LUNG | 15720808 | 15720891 | 15720884 | 15720884 | Missense_Mutation | C | T | p.D799N |
| LS123_LARGE_INTESTINE | 15731526 | 15731727 | 15731538 | 15731538 | Missense_Mutation | T | C | p.I621V |
| NCIH630_LARGE_INTESTINE | 15731526 | 15731727 | 15731634 | 15731634 | Missense_Mutation | G | T | p.L589I |
| JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15731526 | 15731727 | 15731663 | 15731663 | Missense_Mutation | C | T | p.R579K |
| COLO684_ENDOMETRIUM | 15756085 | 15756163 | 15756094 | 15756094 | Missense_Mutation | T | C | p.I326V |
| SNUC5_LARGE_INTESTINE | 15756085 | 15756163 | 15756141 | 15756141 | Missense_Mutation | A | C | p.L310R |
| HCC1569_BREAST | 15765889 | 15766031 | 15765921 | 15765921 | Missense_Mutation | C | T | p.V221I |
| LAMA84_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15765889 | 15766031 | 15765921 | 15765921 | Missense_Mutation | C | T | p.V221I |
| SNU520_STOMACH | 15765889 | 15766031 | 15765984 | 15765984 | Missense_Mutation | T | C | p.T200A |
| SKUT1_SOFT_TISSUE | 15778540 | 15778740 | 15778574 | 15778574 | Missense_Mutation | G | A | p.A143V |
| CW2_LARGE_INTESTINE | 15778540 | 15778740 | 15778655 | 15778655 | Missense_Mutation | G | A | p.A116V |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15778540 | 15778740 | 15778677 | 15778677 | Missense_Mutation | T | C | p.T109A |
| JHUEM7_ENDOMETRIUM | 15778540 | 15778740 | 15778691 | 15778691 | Missense_Mutation | T | G | p.D104A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 15778540 | 15778740 | 15778728 | 15778728 | Missense_Mutation | C | T | p.V92I |
| G401_SOFT_TISSUE | 15807741 | 15807819 | 15807795 | 15807795 | Missense_Mutation | G | A | p.H46Y |
| MELJUSO_SKIN | 15807741 | 15807819 | 15807800 | 15807800 | Missense_Mutation | G | A | p.P44L |
| MELJUSO_SKIN | 15807741 | 15807819 | 15807800 | 15807801 | Missense_Mutation | GG | AA | p.P44L |
| MELJUSO_SKIN | 15807741 | 15807819 | 15807801 | 15807801 | Missense_Mutation | G | A | p.P44S |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15717405 | 15717496 | 15717477 | 15717477 | Nonsense_Mutation | G | A | p.R935* |
| IGR1_SKIN | 15756085 | 15756163 | 15756091 | 15756092 | Nonsense_Mutation | GG | AT | p.Q327* |
| HEC1A_ENDOMETRIUM | 15807741 | 15807819 | 15807807 | 15807807 | Nonsense_Mutation | G | A | p.R42* |
| HEC1_ENDOMETRIUM | 15807741 | 15807819 | 15807807 | 15807807 | Nonsense_Mutation | G | A | p.R42* |
| HEC1B_ENDOMETRIUM | 15807741 | 15807819 | 15807807 | 15807807 | Nonsense_Mutation | G | A | p.R42* |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKRD28 |
| 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 ANKRD28 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANKRD28 |
Top |
RelatedDrugs for ANKRD28 |
| 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 ANKRD28 |
| 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)
|