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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 KDM1B |
 Gene summary |
| Gene information | Gene symbol | KDM1B | Gene ID | 221656 |
| Gene name | lysine demethylase 1B | |
| Synonyms | AOF1|C6orf193|LSD2|bA204B7.3|dJ298J15.2 | |
| Cytomap | 6p22.3 | |
| Type of gene | protein-coding | |
| Description | lysine-specific histone demethylase 1Bamine oxidase (flavin containing) domain 1amine oxidase, flavin containing 1flavin-containing amine oxidase domain-containing protein 1lysine (K)-specific demethylase 1Blysine-specific histone demethylase 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8NB78 | |
| Context | PubMed: KDM1B [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 |
| KDM1B | GO:0034720 | histone H3-K4 demethylation | 23266887 |
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Exon skipping events across known transcript of Ensembl for KDM1B 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 KDM1B |
| 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 KDM1B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_448117 | 6 | 18155682:18155802:18156113:18156157:18160113:18160213 | 18156113:18156157 | ENSG00000165097.9 | ENST00000388870.2,ENST00000297792.5,ENST00000397244.1 |
| exon_skip_448119 | 6 | 18160113:18160213:18161557:18161685:18163065:18163155 | 18161557:18161685 | ENSG00000165097.9 | ENST00000388870.2,ENST00000297792.5,ENST00000397244.1 |
| exon_skip_448122 | 6 | 18161557:18161685:18163065:18163155:18166497:18166609 | 18163065:18163155 | ENSG00000165097.9 | ENST00000388870.2,ENST00000297792.5,ENST00000397244.1 |
| exon_skip_448123 | 6 | 18163065:18163155:18166497:18166609:18171593:18171710 | 18166497:18166609 | ENSG00000165097.9 | ENST00000388870.2,ENST00000297792.5,ENST00000397244.1 |
| exon_skip_448124 | 6 | 18166497:18166609:18171593:18171710:18186002:18186041 | 18171593:18171710 | ENSG00000165097.9 | ENST00000388870.2,ENST00000297792.5,ENST00000397244.1 |
| exon_skip_448128 | 6 | 18171593:18171710:18186002:18186041:18197287:18197464 | 18186002:18186041 | ENSG00000165097.9 | ENST00000297792.5,ENST00000397244.1 |
| exon_skip_448132 | 6 | 18188022:18188233:18191427:18191612:18197287:18197464 | 18191427:18191612 | ENSG00000165097.9 | ENST00000388870.2,ENST00000449850.1 |
| exon_skip_448135 | 6 | 18200669:18200807:18201716:18201888:18205767:18205895 | 18201716:18201888 | ENSG00000165097.9 | ENST00000388870.2,ENST00000449850.1 |
| exon_skip_448137 | 6 | 18208362:18208437:18212718:18212835:18213886:18214012 | 18212718:18212835 | ENSG00000165097.9 | ENST00000388870.2,ENST00000297792.5,ENST00000397244.1,ENST00000449850.1 |
| exon_skip_448140 | 6 | 18215237:18215360:18217963:18218116:18222139:18222274 | 18217963:18218116 | ENSG00000165097.9 | ENST00000388870.2,ENST00000297792.5,ENST00000397244.1,ENST00000546309.2,ENST00000449850.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KDM1B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_448117 | 6 | 18155682:18155802:18156113:18156157:18160113:18160213 | 18156113:18156157 | ENSG00000165097.9 | ENST00000388870.2,ENST00000397244.1,ENST00000297792.5 |
| exon_skip_448119 | 6 | 18160113:18160213:18161557:18161685:18163065:18163155 | 18161557:18161685 | ENSG00000165097.9 | ENST00000388870.2,ENST00000397244.1,ENST00000297792.5 |
| exon_skip_448122 | 6 | 18161557:18161685:18163065:18163155:18166497:18166609 | 18163065:18163155 | ENSG00000165097.9 | ENST00000388870.2,ENST00000397244.1,ENST00000297792.5 |
| exon_skip_448123 | 6 | 18163065:18163155:18166497:18166609:18171593:18171710 | 18166497:18166609 | ENSG00000165097.9 | ENST00000388870.2,ENST00000397244.1,ENST00000297792.5 |
| exon_skip_448124 | 6 | 18166497:18166609:18171593:18171710:18186002:18186041 | 18171593:18171710 | ENSG00000165097.9 | ENST00000388870.2,ENST00000397244.1,ENST00000297792.5 |
| exon_skip_448128 | 6 | 18171593:18171710:18186002:18186041:18197287:18197464 | 18186002:18186041 | ENSG00000165097.9 | ENST00000397244.1,ENST00000297792.5 |
| exon_skip_448132 | 6 | 18188022:18188233:18191427:18191612:18197287:18197464 | 18191427:18191612 | ENSG00000165097.9 | ENST00000388870.2,ENST00000449850.1 |
| exon_skip_448135 | 6 | 18200669:18200807:18201716:18201888:18205767:18205895 | 18201716:18201888 | ENSG00000165097.9 | ENST00000388870.2,ENST00000449850.1 |
| exon_skip_448137 | 6 | 18208362:18208437:18212718:18212835:18213886:18214012 | 18212718:18212835 | ENSG00000165097.9 | ENST00000388870.2,ENST00000397244.1,ENST00000297792.5,ENST00000449850.1 |
| exon_skip_448140 | 6 | 18215237:18215360:18217963:18218116:18222139:18222274 | 18217963:18218116 | ENSG00000165097.9 | ENST00000546309.2,ENST00000388870.2,ENST00000397244.1,ENST00000297792.5,ENST00000449850.1 |
| 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 KDM1B |
| 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 |
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Infer the effects of exon skipping event on protein functional features for KDM1B |
| 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 |
| 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 |
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SNVs in the skipped exons for KDM1B |
| - 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-A1EG-01 | exon_skip_448119 | 18161558 | 18161685 | 18161631 | 18161631 | Frame_Shift_Del | A | - | p.E54fs |
| HNSC | TCGA-T2-A6WX-01 | exon_skip_448122 | 18163066 | 18163155 | 18163094 | 18163094 | Frame_Shift_Del | T | - | p.W82fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_448123 | 18166498 | 18166609 | 18166532 | 18166532 | Frame_Shift_Del | A | - | p.K115fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_448123 | 18166498 | 18166609 | 18166532 | 18166532 | Frame_Shift_Del | A | - | p.K115fs |
| STAD | TCGA-HF-7132-01 | exon_skip_448123 | 18166498 | 18166609 | 18166532 | 18166532 | Frame_Shift_Del | A | - | p.W113X |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_448128 | 18186003 | 18186041 | 18186023 | 18186023 | Frame_Shift_Del | T | - | p.C185fs |
| KIRP | TCGA-PJ-A5Z8-01 | exon_skip_448140 | 18217964 | 18218116 | 18218101 | 18218101 | Frame_Shift_Del | C | - | p.V558fs |
| KIRP | TCGA-PJ-A5Z8-01 | exon_skip_448140 | 18217964 | 18218116 | 18218101 | 18218101 | Frame_Shift_Del | C | - | p.V587fs |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_448124 | 18171594 | 18171710 | 18171678 | 18171678 | Nonsense_Mutation | C | T | p.R168* |
| - 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 |
| LOVO_LARGE_INTESTINE | 18163066 | 18163155 | 18163072 | 18163073 | Frame_Shift_Ins | - | A | p.K75fs |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18161558 | 18161685 | 18161610 | 18161612 | In_Frame_Del | AGA | - | p.K49del |
| DIPG007_CENTRAL_NERVOUS_SYSTEM | 18161558 | 18161685 | 18161648 | 18161648 | Missense_Mutation | G | T | p.A60S |
| LNCAPCLONEFGC_PROSTATE | 18166498 | 18166609 | 18166512 | 18166512 | Missense_Mutation | A | G | p.Y107C |
| MPP89_PLEURA | 18171594 | 18171710 | 18171623 | 18171623 | Missense_Mutation | A | C | p.K149N |
| MERO95_LUNG | 18171594 | 18171710 | 18171651 | 18171651 | Missense_Mutation | C | T | p.L159F |
| ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18171594 | 18171710 | 18171705 | 18171705 | Missense_Mutation | A | G | p.I177V |
| SNU1077_ENDOMETRIUM | 18186003 | 18186041 | 18186036 | 18186036 | Missense_Mutation | G | A | p.D190N |
| PLCPRF5_LIVER | 18191428 | 18191612 | 18191438 | 18191438 | Missense_Mutation | G | T | p.M265I |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18191428 | 18191612 | 18191503 | 18191503 | Missense_Mutation | A | T | p.D287V |
| KELLY_AUTONOMIC_GANGLIA | 18191428 | 18191612 | 18191527 | 18191527 | Missense_Mutation | A | T | p.Y295F |
| SNU175_LARGE_INTESTINE | 18191428 | 18191612 | 18191544 | 18191544 | Missense_Mutation | T | C | p.S301P |
| OV56_OVARY | 18191428 | 18191612 | 18191553 | 18191553 | Missense_Mutation | C | T | p.P304S |
| HCT15_LARGE_INTESTINE | 18201717 | 18201888 | 18201764 | 18201764 | Missense_Mutation | G | T | p.Q469H |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18201717 | 18201888 | 18201796 | 18201796 | Missense_Mutation | A | G | p.D480G |
| SNU1040_LARGE_INTESTINE | 18201717 | 18201888 | 18201807 | 18201807 | Missense_Mutation | G | T | p.D484Y |
| BHT101_THYROID | 18201717 | 18201888 | 18201843 | 18201843 | Missense_Mutation | G | C | p.E496Q |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 18201717 | 18201888 | 18201865 | 18201865 | Missense_Mutation | A | T | p.Q503L |
| HS294T_SKIN | 18201717 | 18201888 | 18201866 | 18201866 | Missense_Mutation | G | T | p.Q503H |
| RI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 18212719 | 18212835 | 18212818 | 18212818 | Missense_Mutation | G | A | p.A424T |
| HCC78_LUNG | 18217964 | 18218116 | 18218090 | 18218090 | Missense_Mutation | C | G | p.Q555E |
| 647V_URINARY_TRACT | 18217964 | 18218116 | 18218002 | 18218002 | Nonsense_Mutation | G | A | p.W525* |
| SNU1_STOMACH | 18201717 | 18201888 | 18201887 | 18201887 | Splice_Site | A | T | p.G510G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KDM1B |
| 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 KDM1B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KDM1B |
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RelatedDrugs for KDM1B |
| 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 KDM1B |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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