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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 KATNBL1 |
 Gene summary |
| Gene information | Gene symbol | KATNBL1 | Gene ID | 79768 |
| Gene name | katanin regulatory subunit B1 like 1 | |
| Synonyms | C15orf29 | |
| Cytomap | 15q14 | |
| Type of gene | protein-coding | |
| Description | KATNB1-like protein 1katanin p80 subunit B-like 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H079 | |
| Context | PubMed: KATNBL1 [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 |
| KATNBL1 | GO:0051495 | positive regulation of cytoskeleton organization | 26929214 |
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Exon skipping events across known transcript of Ensembl for KATNBL1 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 KATNBL1 |
| 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 KATNBL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_125808 | 15 | 34437598:34437692:34438961:34439051:34439400:34439415 | 34438961:34439051 | ENSG00000134152.6 | ENST00000561371.1,ENST00000559760.1,ENST00000256544.3 |
| exon_skip_125817 | 15 | 34439430:34439490:34439580:34439631:34440832:34440951 | 34439580:34439631 | ENSG00000134152.6 | ENST00000540594.1,ENST00000559760.1,ENST00000256544.3,ENST00000560310.1,ENST00000560308.1,ENST00000560247.1 |
| exon_skip_125821 | 15 | 34440858:34440951:34444990:34445270:34446844:34446885 | 34444990:34445270 | ENSG00000134152.6 | ENST00000557877.1,ENST00000540594.1,ENST00000559462.1,ENST00000558473.1,ENST00000256544.3,ENST00000560671.1,ENST00000560108.1,ENST00000560310.1,ENST00000560308.1 |
| exon_skip_125822 | 15 | 34446844:34446885:34455760:34455891:34502151:34502212 | 34455760:34455891 | ENSG00000134152.6 | ENST00000560671.1,ENST00000560247.1 |
| exon_skip_125823 | 15 | 34455760:34455891:34458130:34458316:34502151:34502212 | 34458130:34458316 | ENSG00000134152.6 | ENST00000557877.1 |
| exon_skip_125825 | 15 | 34455760:34455891:34470021:34470200:34502151:34502212 | 34470021:34470200 | ENSG00000134152.6 | ENST00000560108.1 |
| exon_skip_125830 | 15 | 34455760:34455891:34490460:34490532:34502151:34502212 | 34490460:34490532 | ENSG00000134152.6 | ENST00000559515.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KATNBL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_125808 | 15 | 34437598:34437692:34438961:34439051:34439400:34439415 | 34438961:34439051 | ENSG00000134152.6 | ENST00000256544.3,ENST00000561371.1,ENST00000559760.1 |
| exon_skip_125817 | 15 | 34439430:34439490:34439580:34439631:34440832:34440951 | 34439580:34439631 | ENSG00000134152.6 | ENST00000256544.3,ENST00000559760.1,ENST00000560247.1,ENST00000540594.1,ENST00000560308.1,ENST00000560310.1 |
| exon_skip_125821 | 15 | 34440858:34440951:34444990:34445270:34446844:34446885 | 34444990:34445270 | ENSG00000134152.6 | ENST00000256544.3,ENST00000540594.1,ENST00000560308.1,ENST00000560310.1,ENST00000560671.1,ENST00000558473.1,ENST00000557877.1,ENST00000559462.1,ENST00000560108.1 |
| exon_skip_125822 | 15 | 34446844:34446885:34455760:34455891:34502151:34502212 | 34455760:34455891 | ENSG00000134152.6 | ENST00000560247.1,ENST00000560671.1 |
| exon_skip_125823 | 15 | 34455760:34455891:34458130:34458316:34502151:34502212 | 34458130:34458316 | ENSG00000134152.6 | ENST00000557877.1 |
| exon_skip_125825 | 15 | 34455760:34455891:34470021:34470200:34502151:34502212 | 34470021:34470200 | ENSG00000134152.6 | ENST00000560108.1 |
| exon_skip_125830 | 15 | 34455760:34455891:34490460:34490532:34502151:34502212 | 34490460:34490532 | ENSG00000134152.6 | ENST00000559515.1 |
| 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 KATNBL1 |
| 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 |
| ENST00000256544 | 34444990 | 34445270 | Frame-shift |
| ENST00000256544 | 34438961 | 34439051 | In-frame |
| ENST00000256544 | 34439580 | 34439631 | 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 |
| ENST00000256544 | 34444990 | 34445270 | Frame-shift |
| ENST00000256544 | 34438961 | 34439051 | In-frame |
| ENST00000256544 | 34439580 | 34439631 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KATNBL1 |
| 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 |
| ENST00000256544 | 2740 | 304 | 34439580 | 34439631 | 701 | 751 | 186 | 202 |
| ENST00000256544 | 2740 | 304 | 34438961 | 34439051 | 842 | 931 | 233 | 262 |
| 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 |
| ENST00000256544 | 2740 | 304 | 34439580 | 34439631 | 701 | 751 | 186 | 202 |
| ENST00000256544 | 2740 | 304 | 34438961 | 34439051 | 842 | 931 | 233 | 262 |
| 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 |
| Q9H079 | 186 | 202 | 1 | 304 | Chain | ID=PRO_0000089981;Note=KATNB1-like protein 1 |
| Q9H079 | 233 | 262 | 1 | 304 | Chain | ID=PRO_0000089981;Note=KATNB1-like protein 1 |
| 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 |
| Q9H079 | 186 | 202 | 1 | 304 | Chain | ID=PRO_0000089981;Note=KATNB1-like protein 1 |
| Q9H079 | 233 | 262 | 1 | 304 | Chain | ID=PRO_0000089981;Note=KATNB1-like protein 1 |
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SNVs in the skipped exons for KATNBL1 |
| - 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. |
KATNBL1_CESC_exon_skip_125808_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-G3-A3CJ-01 | exon_skip_125821 | 34444991 | 34445270 | 34444996 | 34444996 | Frame_Shift_Del | A | - | p.S145fs |
| STAD | TCGA-CG-5721-01 | exon_skip_125821 | 34444991 | 34445270 | 34444996 | 34444996 | Frame_Shift_Del | A | - | p.S145fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_125821 | 34444991 | 34445270 | 34444996 | 34444996 | Frame_Shift_Del | A | - | p.S145fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_125821 | 34444991 | 34445270 | 34445090 | 34445090 | Frame_Shift_Del | T | - | p.K113fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_125821 | 34444991 | 34445270 | 34445124 | 34445124 | Frame_Shift_Del | T | - | p.N102fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_125821 | 34444991 | 34445270 | 34445148 | 34445148 | Frame_Shift_Del | C | - | p.G94fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_125821 | 34444991 | 34445270 | 34445148 | 34445148 | Frame_Shift_Del | C | - | p.G94fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_125821 | 34444991 | 34445270 | 34445168 | 34445168 | Frame_Shift_Del | T | - | p.K87fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_125821 | 34444991 | 34445270 | 34445168 | 34445168 | Frame_Shift_Del | T | - | p.K87fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_125821 | 34444991 | 34445270 | 34445168 | 34445168 | Frame_Shift_Del | T | - | p.K87fs |
| STAD | TCGA-CG-5726-01 | exon_skip_125821 | 34444991 | 34445270 | 34445168 | 34445168 | Frame_Shift_Del | T | - | p.Q88fs |
| STAD | TCGA-CG-5728-01 | exon_skip_125822 | 34455761 | 34455891 | 34455847 | 34455848 | Frame_Shift_Ins | - | T | p.R11fs |
| CESC | TCGA-EA-A411-01 | exon_skip_125808 | 34438962 | 34439051 | 34438961 | 34438961 | Splice_Site | C | A | e7+1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EA-A411-01 |
| Cancer type: CESC | |
| ESID: exon_skip_125808 | |
| Skipped exon start: 34438962 | |
| Skipped exon end: 34439051 | |
| Mutation start: 34438961 | |
| Mutation end: 34438961 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: e7+1 | |
exon_skip_125808_CESC_TCGA-EA-A411-01.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 |
| CCK81_LARGE_INTESTINE | 34444991 | 34445270 | 34444996 | 34444996 | Frame_Shift_Del | A | - | p.S145fs |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34444991 | 34445270 | 34444996 | 34444996 | Frame_Shift_Del | A | - | p.S145fs |
| HEC6_ENDOMETRIUM | 34444991 | 34445270 | 34445168 | 34445168 | Frame_Shift_Del | T | - | p.K87fs |
| TGBC11TKB_STOMACH | 34444991 | 34445270 | 34445167 | 34445168 | Frame_Shift_Ins | - | T | p.Q88fs |
| OVCA420_OVARY | 34439581 | 34439631 | 34439606 | 34439606 | Missense_Mutation | C | T | p.D195N |
| BEN_LUNG | 34439581 | 34439631 | 34439618 | 34439618 | Missense_Mutation | C | T | p.G191S |
| HCC2998_LARGE_INTESTINE | 34444991 | 34445270 | 34445073 | 34445073 | Missense_Mutation | C | T | p.R119Q |
| LNCAPCLONEFGC_PROSTATE | 34444991 | 34445270 | 34445103 | 34445103 | Missense_Mutation | T | C | p.H109R |
| NCIH23_LUNG | 34444991 | 34445270 | 34445143 | 34445143 | Missense_Mutation | C | A | p.D96Y |
| LAN6_AUTONOMIC_GANGLIA | 34444991 | 34445270 | 34445218 | 34445218 | Missense_Mutation | G | A | p.R71C |
| HEC1A_ENDOMETRIUM | 34455761 | 34455891 | 34455829 | 34455829 | Missense_Mutation | T | A | p.I17F |
| HEC1_ENDOMETRIUM | 34455761 | 34455891 | 34455829 | 34455829 | Missense_Mutation | T | A | p.I17F |
| HEC1B_ENDOMETRIUM | 34455761 | 34455891 | 34455829 | 34455829 | Missense_Mutation | T | A | p.I17F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KATNBL1 |
| 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 KATNBL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KATNBL1 |
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RelatedDrugs for KATNBL1 |
| 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 KATNBL1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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