|
||||||
|
 | |
| |
| |
| |
| 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 ANKS1B |
 Gene summary |
| Gene information | Gene symbol | ANKS1B | Gene ID | 56899 |
| Gene name | ankyrin repeat and sterile alpha motif domain containing 1B | |
| Synonyms | AIDA|AIDA-1|ANKS2|EB-1|EB1|cajalin-2 | |
| Cytomap | 12q23.1 | |
| Type of gene | protein-coding | |
| Description | ankyrin repeat and sterile alpha motif domain-containing protein 1BE2a-Pbx1-associated proteinamyloid-beta precursor protein intracellular domain associated protein 1cajalin 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q7Z6G8 | |
| Context | PubMed: ANKS1B [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 ANKS1B 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 ANKS1B |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ANKS1B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_95541 | 12 | 99174894:99174981:99175903:99175915:99192711:99192783 | 99175903:99175915 | ENSG00000185046.14 | ENST00000550778.1,ENST00000546568.1,ENST00000341752.7,ENST00000549025.2,ENST00000547010.1,ENST00000550693.2,ENST00000547776.2,ENST00000333732.7,ENST00000549558.2,ENST00000546960.1,ENST00000549493.2,ENST00000547446.1 |
| exon_skip_95543 | 12 | 99192711:99192783:99194774:99194903:99225806:99225914 | 99194774:99194903 | ENSG00000185046.14 | ENST00000546568.1,ENST00000547010.1,ENST00000549558.2,ENST00000547446.1 |
| exon_skip_95550 | 12 | 99194870:99194903:99201621:99201693:99222951:99223029 | 99201621:99201693 | ENSG00000185046.14 | ENST00000551560.1,ENST00000333732.7,ENST00000549493.2,ENST00000546364.3 |
| exon_skip_95551 | 12 | 99194870:99194903:99201621:99201693:99225806:99225914 | 99201621:99201693 | ENSG00000185046.14 | ENST00000332712.7,ENST00000550693.2 |
| exon_skip_95552 | 12 | 99194870:99194903:99201621:99201696:99222951:99223029 | 99201621:99201696 | ENSG00000185046.14 | ENST00000549797.1 |
| exon_skip_95553 | 12 | 99194870:99194903:99201621:99201696:99225806:99225914 | 99201621:99201696 | ENSG00000185046.14 | ENST00000551613.1 |
| exon_skip_95554 | 12 | 99194870:99194903:99201621:99201696:99446934:99447087 | 99201621:99201696 | ENSG00000185046.14 | ENST00000549025.2 |
| exon_skip_95557 | 12 | 99194870:99194903:99222951:99223131:99225806:99225914 | 99222951:99223131 | ENSG00000185046.14 | ENST00000550778.1,ENST00000547362.1,ENST00000341752.7,ENST00000547776.2,ENST00000552407.1,ENST00000546960.1,ENST00000329257.7,ENST00000552748.1 |
| exon_skip_95558 | 12 | 99194870:99194903:99225806:99225914:99288407:99288639 | 99225806:99225914 | ENSG00000185046.14 | ENST00000551830.1 |
| exon_skip_95559 | 12 | 99194870:99194903:99225806:99225914:99446934:99447082 | 99225806:99225914 | ENSG00000185046.14 | ENST00000546568.1,ENST00000547010.1,ENST00000549558.2,ENST00000547446.1 |
| exon_skip_95562 | 12 | 99201621:99201693:99222951:99223131:99225806:99225914 | 99222951:99223131 | ENSG00000185046.14 | ENST00000551560.1,ENST00000333732.7,ENST00000549493.2,ENST00000546364.3 |
| exon_skip_95563 | 12 | 99201621:99201696:99222951:99223029:99225806:99225914 | 99222951:99223029 | ENSG00000185046.14 | ENST00000549797.1 |
| exon_skip_95570 | 12 | 99640608:99640642:99793408:99793589:99837450:99837587 | 99793408:99793589 | ENSG00000185046.14 | ENST00000549866.1,ENST00000547010.1,ENST00000547776.2,ENST00000329257.7 |
| exon_skip_95573 | 12 | 100169325:100169439:100173648:100173750:100175799:100175875 | 100173648:100173750 | ENSG00000185046.14 | ENST00000547776.2,ENST00000329257.7 |
| exon_skip_95574 | 12 | 100173648:100173750:100175799:100175875:100200181:100200478 | 100175799:100175875 | ENSG00000185046.14 | ENST00000547776.2,ENST00000329257.7 |
| exon_skip_95575 | 12 | 100205932:100206089:100219086:100219167:100377881:100378015 | 100219086:100219167 | ENSG00000185046.14 | ENST00000549866.1,ENST00000547776.2,ENST00000329257.7 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ANKS1B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_95541 | 12 | 99174894:99174981:99175903:99175915:99192711:99192783 | 99175903:99175915 | ENSG00000185046.14 | ENST00000341752.7,ENST00000549558.2,ENST00000547776.2,ENST00000547010.1,ENST00000550693.2,ENST00000549025.2,ENST00000549493.2,ENST00000547446.1,ENST00000333732.7,ENST00000550778.1,ENST00000546568.1,ENST00000546960.1 |
| exon_skip_95543 | 12 | 99192711:99192783:99194774:99194903:99225806:99225914 | 99194774:99194903 | ENSG00000185046.14 | ENST00000549558.2,ENST00000547010.1,ENST00000547446.1,ENST00000546568.1 |
| exon_skip_95550 | 12 | 99194870:99194903:99201621:99201693:99222951:99223029 | 99201621:99201693 | ENSG00000185046.14 | ENST00000549493.2,ENST00000333732.7,ENST00000546364.3,ENST00000551560.1 |
| exon_skip_95551 | 12 | 99194870:99194903:99201621:99201693:99225806:99225914 | 99201621:99201693 | ENSG00000185046.14 | ENST00000550693.2,ENST00000332712.7 |
| exon_skip_95552 | 12 | 99194870:99194903:99201621:99201696:99222951:99223029 | 99201621:99201696 | ENSG00000185046.14 | ENST00000549797.1 |
| exon_skip_95553 | 12 | 99194870:99194903:99201621:99201696:99225806:99225914 | 99201621:99201696 | ENSG00000185046.14 | ENST00000551613.1 |
| exon_skip_95554 | 12 | 99194870:99194903:99201621:99201696:99446934:99447087 | 99201621:99201696 | ENSG00000185046.14 | ENST00000549025.2 |
| exon_skip_95557 | 12 | 99194870:99194903:99222951:99223131:99225806:99225914 | 99222951:99223131 | ENSG00000185046.14 | ENST00000341752.7,ENST00000547776.2,ENST00000329257.7,ENST00000550778.1,ENST00000547362.1,ENST00000546960.1,ENST00000552407.1,ENST00000552748.1 |
| exon_skip_95558 | 12 | 99194870:99194903:99225806:99225914:99288407:99288639 | 99225806:99225914 | ENSG00000185046.14 | ENST00000551830.1 |
| exon_skip_95559 | 12 | 99194870:99194903:99225806:99225914:99446934:99447082 | 99225806:99225914 | ENSG00000185046.14 | ENST00000549558.2,ENST00000547010.1,ENST00000547446.1,ENST00000546568.1 |
| exon_skip_95562 | 12 | 99201621:99201693:99222951:99223131:99225806:99225914 | 99222951:99223131 | ENSG00000185046.14 | ENST00000549493.2,ENST00000333732.7,ENST00000546364.3,ENST00000551560.1 |
| exon_skip_95563 | 12 | 99201621:99201696:99222951:99223029:99225806:99225914 | 99222951:99223029 | ENSG00000185046.14 | ENST00000549797.1 |
| exon_skip_95570 | 12 | 99640608:99640642:99793408:99793589:99837450:99837587 | 99793408:99793589 | ENSG00000185046.14 | ENST00000547776.2,ENST00000547010.1,ENST00000329257.7,ENST00000549866.1 |
| exon_skip_95573 | 12 | 100169325:100169439:100173648:100173750:100175799:100175875 | 100173648:100173750 | ENSG00000185046.14 | ENST00000547776.2,ENST00000329257.7 |
| exon_skip_95574 | 12 | 100173648:100173750:100175799:100175875:100200181:100200478 | 100175799:100175875 | ENSG00000185046.14 | ENST00000547776.2,ENST00000329257.7 |
| exon_skip_95575 | 12 | 100205932:100206089:100219086:100219167:100377881:100378015 | 100219086:100219167 | ENSG00000185046.14 | ENST00000547776.2,ENST00000329257.7,ENST00000549866.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ANKS1B |
| 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 |
| ENST00000547776 | 99793408 | 99793589 | Frame-shift |
| ENST00000547776 | 100175799 | 100175875 | Frame-shift |
| ENST00000547776 | 99175903 | 99175915 | In-frame |
| ENST00000547776 | 99222951 | 99223131 | In-frame |
| ENST00000547776 | 100173648 | 100173750 | In-frame |
| ENST00000547776 | 100219086 | 100219167 | 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 |
| ENST00000547776 | 99793408 | 99793589 | Frame-shift |
| ENST00000547776 | 100175799 | 100175875 | Frame-shift |
| ENST00000547776 | 99175903 | 99175915 | In-frame |
| ENST00000547776 | 99222951 | 99223131 | In-frame |
| ENST00000547776 | 100173648 | 100173750 | In-frame |
| ENST00000547776 | 100219086 | 100219167 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ANKS1B |
| 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 |
| ENST00000547776 | 3902 | 1248 | 100219086 | 100219167 | 135 | 215 | 45 | 71 |
| ENST00000547776 | 3902 | 1248 | 100173648 | 100173750 | 746 | 847 | 248 | 282 |
| ENST00000547776 | 3902 | 1248 | 99222951 | 99223131 | 2887 | 3066 | 962 | 1022 |
| 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 |
| ENST00000547776 | 3902 | 1248 | 100219086 | 100219167 | 135 | 215 | 45 | 71 |
| ENST00000547776 | 3902 | 1248 | 100173648 | 100173750 | 746 | 847 | 248 | 282 |
| ENST00000547776 | 3902 | 1248 | 99222951 | 99223131 | 2887 | 3066 | 962 | 1022 |
| 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 ANKS1B |
| - 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-DD-A39Y-01 | exon_skip_95573 | 100173649 | 100173750 | 100173658 | 100173658 | Frame_Shift_Del | G | - | p.L281fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_95575 | 100219087 | 100219167 | 100219152 | 100219152 | Frame_Shift_Del | G | - | p.P50fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_95558 exon_skip_95559 | 99225807 | 99225914 | 99225838 | 99225838 | Frame_Shift_Del | G | - | p.P952fs |
| KIRC | TCGA-CJ-4904-01 | exon_skip_95557 exon_skip_95562 | 99222952 | 99223131 | 99223072 | 99223072 | Nonsense_Mutation | G | T | p.Y982* |
| KIRC | TCGA-CJ-4904-01 | exon_skip_95557 exon_skip_95562 | 99222952 | 99223131 | 99223072 | 99223072 | Nonsense_Mutation | G | T | p.Y982X |
| - 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 |
| SNU407_LARGE_INTESTINE | 99225807 | 99225914 | 99225905 | 99225905 | Frame_Shift_Del | T | - | p.I930fs |
| NCIH2444_LUNG | 100219087 | 100219167 | 100219154 | 100219154 | Missense_Mutation | G | T | p.P50T |
| NCIH2110_LUNG | 99194775 | 99194903 | 99194802 | 99194802 | Missense_Mutation | G | C | p.I1056M |
| NCIH2087_LUNG | 99194775 | 99194903 | 99194869 | 99194869 | Missense_Mutation | C | A | p.R1034L |
| SNU1040_LARGE_INTESTINE | 99194775 | 99194903 | 99194881 | 99194881 | Missense_Mutation | G | A | p.S1030F |
| MZ2MEL_SKIN | 99222952 | 99223131 | 99223013 | 99223013 | Missense_Mutation | C | A | p.R1002I |
| MZ2MEL_SKIN | 99222952 | 99223029 | 99223013 | 99223013 | Missense_Mutation | C | A | p.R1002I |
| NCIH446_LUNG | 99222952 | 99223131 | 99223026 | 99223026 | Missense_Mutation | C | G | p.D998H |
| NCIH446_LUNG | 99222952 | 99223029 | 99223026 | 99223026 | Missense_Mutation | C | G | p.D998H |
| KYSE150_OESOPHAGUS | 99222952 | 99223131 | 99223056 | 99223056 | Missense_Mutation | G | T | p.L988I |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 99222952 | 99223131 | 99223094 | 99223094 | Missense_Mutation | G | A | p.P975L |
| A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99225807 | 99225914 | 99225831 | 99225831 | Missense_Mutation | C | G | p.K954N |
| NCIH64_LUNG | 99225807 | 99225914 | 99225880 | 99225880 | Missense_Mutation | C | T | p.R938H |
| BICR78_UPPER_AERODIGESTIVE_TRACT | 99225807 | 99225914 | 99225905 | 99225905 | Missense_Mutation | T | C | p.I930V |
| HCC38_BREAST | 99793409 | 99793589 | 99793411 | 99793411 | Missense_Mutation | G | C | p.T585R |
| SNU1040_LARGE_INTESTINE | 99793409 | 99793589 | 99793412 | 99793412 | Missense_Mutation | T | C | p.T585A |
| MCC13_SKIN | 99793409 | 99793589 | 99793423 | 99793423 | Missense_Mutation | C | T | p.G581E |
| SARC9371_BONE | 99793409 | 99793589 | 99793423 | 99793423 | Missense_Mutation | C | T | p.G581E |
| NCIH510_LUNG | 99793409 | 99793589 | 99793426 | 99793426 | Missense_Mutation | T | A | p.E580V |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99793409 | 99793589 | 99793451 | 99793451 | Missense_Mutation | C | G | p.V572L |
| TGBC11TKB_STOMACH | 99793409 | 99793589 | 99793468 | 99793468 | Missense_Mutation | C | G | p.S566T |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 99793409 | 99793589 | 99793577 | 99793577 | Missense_Mutation | T | C | p.T530A |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKS1B |
| 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 ANKS1B |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANKS1B |
Top |
RelatedDrugs for ANKS1B |
| 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 ANKS1B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ANKS1B | C0019202 | Hepatolenticular Degeneration | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|