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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 ANKRD44 |
 Gene summary |
| Gene information | Gene symbol | ANKRD44 | Gene ID | 91526 |
| Gene name | ankyrin repeat domain 44 | |
| Synonyms | PP6-ARS-B | |
| Cytomap | 2q33.1 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit Bankyrin repeat domain-containing protein 44protein phosphatase 6 ankyrin repeat subunit Bserine/threonine-protein phosphatase 6 regulatory subunit ARS-B | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N8A2 | |
| Context | PubMed: ANKRD44 [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 ANKRD44 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 ANKRD44 |
| 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 ANKRD44 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_345784 | 2 | 197863060:197863143:197863630:197863776:197865142:197865226 | 197863630:197863776 | ENSG00000065413.12 | ENST00000424317.1,ENST00000282272.8,ENST00000448801.1,ENST00000450567.1,ENST00000337207.5,ENST00000328737.2 |
| exon_skip_345785 | 2 | 197863630:197863776:197865142:197865226:197866476:197866564 | 197865142:197865226 | ENSG00000065413.12 | ENST00000424317.1,ENST00000282272.8,ENST00000450567.1,ENST00000337207.5,ENST00000328737.2 |
| exon_skip_345788 | 2 | 197866476:197866564:197870417:197870634:197872529:197872647 | 197870417:197870634 | ENSG00000065413.12 | ENST00000424317.1,ENST00000282272.8,ENST00000450567.1,ENST00000337207.5,ENST00000328737.2 |
| exon_skip_345789 | 2 | 197873667:197873755:197878234:197878436:197889919:197889991 | 197878234:197878436 | ENSG00000065413.12 | ENST00000424317.1,ENST00000282272.8,ENST00000450567.1,ENST00000337207.5,ENST00000328737.2 |
| exon_skip_345791 | 2 | 197943426:197943538:197946368:197946449:197948092:197948233 | 197946368:197946449 | ENSG00000065413.12 | ENST00000422886.1,ENST00000409153.1,ENST00000424317.1,ENST00000282272.8,ENST00000539527.1,ENST00000450567.1,ENST00000337207.5,ENST00000328737.2 |
| exon_skip_345793 | 2 | 197948092:197948233:197951403:197951472:197953434:197953498 | 197951403:197951472 | ENSG00000065413.12 | ENST00000409153.1,ENST00000477852.1,ENST00000424317.1,ENST00000282272.8,ENST00000539527.1,ENST00000450567.1,ENST00000337207.5,ENST00000328737.2 |
| exon_skip_345794 | 2 | 198001315:198001386:198011750:198011829:198051746:198051830 | 198011750:198011829 | ENSG00000065413.12 | ENST00000409153.1,ENST00000463879.1,ENST00000282272.8,ENST00000443014.1,ENST00000409919.1,ENST00000450567.1,ENST00000328737.2 |
| exon_skip_345795 | 2 | 198011750:198011829:198051746:198051830:198175301:198175504 | 198051746:198051830 | ENSG00000065413.12 | ENST00000409153.1,ENST00000463879.1,ENST00000409919.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ANKRD44 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_345784 | 2 | 197863060:197863143:197863630:197863776:197865142:197865226 | 197863630:197863776 | ENSG00000065413.12 | ENST00000424317.1,ENST00000448801.1,ENST00000282272.8,ENST00000328737.2,ENST00000450567.1,ENST00000337207.5 |
| exon_skip_345785 | 2 | 197863630:197863776:197865142:197865226:197866476:197866564 | 197865142:197865226 | ENSG00000065413.12 | ENST00000424317.1,ENST00000282272.8,ENST00000328737.2,ENST00000450567.1,ENST00000337207.5 |
| exon_skip_345788 | 2 | 197866476:197866564:197870417:197870634:197872529:197872647 | 197870417:197870634 | ENSG00000065413.12 | ENST00000424317.1,ENST00000282272.8,ENST00000328737.2,ENST00000450567.1,ENST00000337207.5 |
| exon_skip_345789 | 2 | 197873667:197873755:197878234:197878436:197889919:197889991 | 197878234:197878436 | ENSG00000065413.12 | ENST00000424317.1,ENST00000282272.8,ENST00000328737.2,ENST00000450567.1,ENST00000337207.5 |
| exon_skip_345791 | 2 | 197943426:197943538:197946368:197946449:197948092:197948233 | 197946368:197946449 | ENSG00000065413.12 | ENST00000424317.1,ENST00000282272.8,ENST00000328737.2,ENST00000450567.1,ENST00000337207.5,ENST00000422886.1,ENST00000409153.1,ENST00000539527.1 |
| exon_skip_345793 | 2 | 197948092:197948233:197951403:197951472:197953434:197953498 | 197951403:197951472 | ENSG00000065413.12 | ENST00000424317.1,ENST00000282272.8,ENST00000328737.2,ENST00000450567.1,ENST00000337207.5,ENST00000409153.1,ENST00000539527.1,ENST00000477852.1 |
| exon_skip_345794 | 2 | 198001315:198001386:198011750:198011829:198051746:198051830 | 198011750:198011829 | ENSG00000065413.12 | ENST00000282272.8,ENST00000328737.2,ENST00000450567.1,ENST00000409153.1,ENST00000409919.1,ENST00000443014.1,ENST00000463879.1 |
| exon_skip_345795 | 2 | 198011750:198011829:198051746:198051830:198175301:198175504 | 198051746:198051830 | ENSG00000065413.12 | ENST00000409153.1,ENST00000409919.1,ENST00000463879.1 |
| 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 ANKRD44 |
| 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 |
| ENST00000282272 | 197863630 | 197863776 | Frame-shift |
| ENST00000282272 | 197870417 | 197870634 | Frame-shift |
| ENST00000282272 | 197878234 | 197878436 | Frame-shift |
| ENST00000282272 | 198011750 | 198011829 | Frame-shift |
| ENST00000282272 | 197865142 | 197865226 | In-frame |
| ENST00000282272 | 197946368 | 197946449 | In-frame |
| ENST00000282272 | 197951403 | 197951472 | 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 |
| ENST00000282272 | 197863630 | 197863776 | Frame-shift |
| ENST00000282272 | 197870417 | 197870634 | Frame-shift |
| ENST00000282272 | 197878234 | 197878436 | Frame-shift |
| ENST00000282272 | 198011750 | 198011829 | Frame-shift |
| ENST00000282272 | 197865142 | 197865226 | In-frame |
| ENST00000282272 | 197946368 | 197946449 | In-frame |
| ENST00000282272 | 197951403 | 197951472 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ANKRD44 |
| 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 |
| ENST00000282272 | 2975 | 993 | 197951403 | 197951472 | 1224 | 1292 | 408 | 430 |
| ENST00000282272 | 2975 | 993 | 197946368 | 197946449 | 1434 | 1514 | 478 | 504 |
| ENST00000282272 | 2975 | 993 | 197865142 | 197865226 | 2412 | 2495 | 804 | 831 |
| 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 |
| ENST00000282272 | 2975 | 993 | 197951403 | 197951472 | 1224 | 1292 | 408 | 430 |
| ENST00000282272 | 2975 | 993 | 197946368 | 197946449 | 1434 | 1514 | 478 | 504 |
| ENST00000282272 | 2975 | 993 | 197865142 | 197865226 | 2412 | 2495 | 804 | 831 |
| 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 |
| Q8N8A2 | 408 | 430 | 368 | 993 | Alternative sequence | ID=VSP_035966;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N8A2 | 408 | 430 | 1 | 993 | Chain | ID=PRO_0000244572;Note=Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B |
| Q8N8A2 | 408 | 430 | 404 | 433 | Repeat | Note=ANK 13 |
| Q8N8A2 | 478 | 504 | 368 | 993 | Alternative sequence | ID=VSP_035966;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N8A2 | 478 | 504 | 1 | 993 | Chain | ID=PRO_0000244572;Note=Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B |
| Q8N8A2 | 478 | 504 | 470 | 498 | Repeat | Note=ANK 15 |
| Q8N8A2 | 804 | 831 | 368 | 993 | Alternative sequence | ID=VSP_035966;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N8A2 | 804 | 831 | 580 | 993 | Alternative sequence | ID=VSP_019603;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N8A2 | 804 | 831 | 1 | 993 | Chain | ID=PRO_0000244572;Note=Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B |
| Q8N8A2 | 804 | 831 | 803 | 832 | Repeat | Note=ANK 24 |
| 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 |
| Q8N8A2 | 408 | 430 | 368 | 993 | Alternative sequence | ID=VSP_035966;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N8A2 | 408 | 430 | 1 | 993 | Chain | ID=PRO_0000244572;Note=Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B |
| Q8N8A2 | 408 | 430 | 404 | 433 | Repeat | Note=ANK 13 |
| Q8N8A2 | 478 | 504 | 368 | 993 | Alternative sequence | ID=VSP_035966;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N8A2 | 478 | 504 | 1 | 993 | Chain | ID=PRO_0000244572;Note=Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B |
| Q8N8A2 | 478 | 504 | 470 | 498 | Repeat | Note=ANK 15 |
| Q8N8A2 | 804 | 831 | 368 | 993 | Alternative sequence | ID=VSP_035966;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N8A2 | 804 | 831 | 580 | 993 | Alternative sequence | ID=VSP_019603;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N8A2 | 804 | 831 | 1 | 993 | Chain | ID=PRO_0000244572;Note=Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit B |
| Q8N8A2 | 804 | 831 | 803 | 832 | Repeat | Note=ANK 24 |
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SNVs in the skipped exons for ANKRD44 |
| - 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_345784 | 197863631 | 197863776 | 197863643 | 197863643 | Frame_Shift_Del | C | - | p.A860fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_345784 | 197863631 | 197863776 | 197863769 | 197863769 | Frame_Shift_Del | G | - | p.L818fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_345784 | 197863631 | 197863776 | 197863769 | 197863769 | Frame_Shift_Del | G | - | p.L818fs |
| KIRP | TCGA-KV-A6GD-01 | exon_skip_345789 | 197878235 | 197878436 | 197878244 | 197878244 | Frame_Shift_Del | G | - | p.H639fs |
| HNSC | TCGA-F7-A622-01 | exon_skip_345789 | 197878235 | 197878436 | 197878278 | 197878279 | Frame_Shift_Del | AA | - | p.F602fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_345791 | 197946369 | 197946449 | 197946381 | 197946381 | Frame_Shift_Del | T | - | p.K484fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_345794 | 198011751 | 198011829 | 198011791 | 198011791 | Frame_Shift_Del | A | - | p.F25fs |
| COAD | TCGA-AZ-4315-01 | exon_skip_345784 | 197863631 | 197863776 | 197863734 | 197863734 | Nonsense_Mutation | G | T | p.C854X |
| LUAD | TCGA-97-A4M5-01 | exon_skip_345791 | 197946369 | 197946449 | 197946417 | 197946417 | Nonsense_Mutation | G | C | p.S472* |
| SKCM | TCGA-EB-A41A-01 | exon_skip_345788 | 197870418 | 197870634 | 197870635 | 197870635 | Splice_Site | C | G | . |
| - 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 |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197863631 | 197863776 | 197863697 | 197863697 | Missense_Mutation | C | T | p.A842T |
| OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197863631 | 197863776 | 197863712 | 197863712 | Missense_Mutation | T | C | p.S837G |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197863631 | 197863776 | 197863748 | 197863748 | Missense_Mutation | C | T | p.D825N |
| HT115_LARGE_INTESTINE | 197865143 | 197865226 | 197865152 | 197865152 | Missense_Mutation | T | C | p.D812G |
| SNU1040_LARGE_INTESTINE | 197865143 | 197865226 | 197865168 | 197865168 | Missense_Mutation | C | T | p.V807I |
| LS411N_LARGE_INTESTINE | 197865143 | 197865226 | 197865180 | 197865180 | Missense_Mutation | C | T | p.D803N |
| HCC461_LUNG | 197865143 | 197865226 | 197865207 | 197865207 | Missense_Mutation | A | T | p.C794S |
| CHL1_SKIN | 197870418 | 197870634 | 197870478 | 197870478 | Missense_Mutation | C | T | p.E738K |
| HMCB_SKIN | 197870418 | 197870634 | 197870478 | 197870478 | Missense_Mutation | C | T | p.E738K |
| SNU1_STOMACH | 197870418 | 197870634 | 197870492 | 197870492 | Missense_Mutation | A | G | p.M733T |
| KELLY_AUTONOMIC_GANGLIA | 197870418 | 197870634 | 197870528 | 197870528 | Missense_Mutation | C | T | p.R721H |
| MFE319_ENDOMETRIUM | 197870418 | 197870634 | 197870604 | 197870604 | Missense_Mutation | T | C | p.M696V |
| VMRCLCD_LUNG | 197878235 | 197878436 | 197878258 | 197878258 | Missense_Mutation | T | C | p.K609R |
| LS411N_LARGE_INTESTINE | 197878235 | 197878436 | 197878267 | 197878267 | Missense_Mutation | T | C | p.N606S |
| SNU1040_LARGE_INTESTINE | 197878235 | 197878436 | 197878322 | 197878322 | Missense_Mutation | T | C | p.T588A |
| SNU81_LARGE_INTESTINE | 197878235 | 197878436 | 197878370 | 197878370 | Missense_Mutation | C | T | p.D572N |
| NCCIT_TESTIS | 197878235 | 197878436 | 197878385 | 197878385 | Missense_Mutation | C | G | p.D567H |
| DU145_PROSTATE | 197878235 | 197878436 | 197878417 | 197878417 | Missense_Mutation | T | C | p.Q556R |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 197946369 | 197946449 | 197946444 | 197946444 | Missense_Mutation | G | A | p.T463I |
| MCC26_SKIN | 198011751 | 198011829 | 198011805 | 198011805 | Missense_Mutation | G | A | p.H21Y |
| CASKI_CERVIX | 198011751 | 198011829 | 198011814 | 198011814 | Missense_Mutation | T | C | p.T18A |
| HT115_LARGE_INTESTINE | 198051747 | 198051830 | 198051769 | 198051769 | Missense_Mutation | T | G | p.K5T |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 197870418 | 197870634 | 197870619 | 197870619 | Nonsense_Mutation | C | A | p.E691* |
| NBSUSSR_AUTONOMIC_GANGLIA | 197951404 | 197951472 | 197951465 | 197951465 | Nonsense_Mutation | C | A | p.E394* |
| HCC2998_LARGE_INTESTINE | 198011751 | 198011829 | 198011769 | 198011769 | Nonsense_Mutation | C | A | p.E33* |
| HEC108_ENDOMETRIUM | 197870418 | 197870634 | 197870419 | 197870419 | Splice_Site | A | G | p.N757N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKRD44 |
| 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 |
| exon_skip_345784 | 2 | 197863060:197863143:197863630:197863776:197865142:197865226 | 197863630:197863776 | ENST00000424317.1,ENST00000282272.8,ENST00000448801.1,ENST00000450567.1,ENST00000337207.5,ENST00000328737.2 | OV | rs17385301 | chr2:197863698 | C/T | 4.44e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANKRD44 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANKRD44 |
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RelatedDrugs for ANKRD44 |
| 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 ANKRD44 |
| 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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