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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 CDKL3 |
Gene summary |
Gene information | Gene symbol | CDKL3 | Gene ID | 51265 |
Gene name | cyclin dependent kinase like 3 | |
Synonyms | NKIAMRE | |
Cytomap | 5q31.1 | |
Type of gene | protein-coding | |
Description | cyclin-dependent kinase-like 3serine-threonine protein kinase NKIAMRE | |
Modification date | 20180523 | |
UniProtAcc | Q8IVW4 | |
Context | PubMed: CDKL3 [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 CDKL3 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 CDKL3 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CDKL3 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_444218 | 5 | 133622040:133622250:133637830:133637901:133638280:133638378 | 133637830:133637901 | ENSG00000006837.7 | ENST00000435240.2,ENST00000520693.1 |
exon_skip_444219 | 5 | 133634319:133634401:133635346:133635441:133638280:133638378 | 133635346:133635441 | ENSG00000006837.7 | ENST00000523054.1 |
exon_skip_444220 | 5 | 133634319:133634401:133637830:133637901:133638280:133638378 | 133637830:133637901 | ENSG00000006837.7 | ENST00000518990.1 |
exon_skip_444223 | 5 | 133640095:133640258:133642299:133642393:133643828:133644157 | 133642299:133642393 | ENSG00000006837.7 | ENST00000536186.1,ENST00000519312.1,ENST00000265334.4,ENST00000435240.2,ENST00000609654.1,ENST00000520693.1,ENST00000521118.1,ENST00000523054.1 |
exon_skip_444233 | 5 | 133642299:133642393:133643828:133644157:133647982:133648071 | 133643828:133644157 | ENSG00000006837.7 | ENST00000519312.1 |
exon_skip_444243 | 5 | 133643828:133644157:133644264:133644418:133647982:133648071 | 133644264:133644418 | ENSG00000006837.7 | ENST00000435211.1,ENST00000536186.1,ENST00000265334.4,ENST00000523832.1,ENST00000609654.1,ENST00000521118.1,ENST00000523054.1 |
exon_skip_444244 | 5 | 133643828:133644157:133644264:133644418:133655048:133655080 | 133644264:133644418 | ENSG00000006837.7 | ENST00000435240.2,ENST00000520592.1,ENST00000520693.1 |
exon_skip_444245 | 5 | 133643828:133644157:133644264:133644418:133657481:133657594 | 133644264:133644418 | ENSG00000006837.7 | ENST00000609383.1 |
exon_skip_444248 | 5 | 133643828:133644157:133647982:133648071:133655048:133655080 | 133647982:133648071 | ENSG00000006837.7 | ENST00000519312.1 |
exon_skip_444255 | 5 | 133643828:133644157:133657481:133657594:133706688:133706695 | 133657481:133657594 | ENSG00000006837.7 | ENST00000521755.1 |
exon_skip_444259 | 5 | 133644264:133644418:133647982:133648071:133655048:133655080 | 133647982:133648071 | ENSG00000006837.7 | ENST00000435211.1,ENST00000265334.4,ENST00000523832.1,ENST00000609654.1,ENST00000521118.1,ENST00000523054.1 |
exon_skip_444260 | 5 | 133644264:133644418:133647982:133648071:133657481:133657594 | 133647982:133648071 | ENSG00000006837.7 | ENST00000536186.1 |
exon_skip_444263 | 5 | 133644264:133644418:133655048:133655188:133657481:133657594 | 133655048:133655188 | ENSG00000006837.7 | ENST00000435240.2,ENST00000520693.1 |
exon_skip_444269 | 5 | 133644264:133644418:133657481:133657594:133706688:133706695 | 133657481:133657594 | ENSG00000006837.7 | ENST00000609383.1 |
exon_skip_444278 | 5 | 133647982:133648071:133655048:133655188:133657481:133657594 | 133655048:133655188 | ENSG00000006837.7 | ENST00000435211.1,ENST00000519312.1,ENST00000265334.4,ENST00000523832.1,ENST00000609654.1,ENST00000521118.1,ENST00000523054.1 |
exon_skip_444283 | 5 | 133655048:133655188:133657481:133657594:133706688:133706695 | 133657481:133657594 | ENSG00000006837.7 | ENST00000519312.1,ENST00000522501.1,ENST00000435240.2,ENST00000520693.1 |
exon_skip_444293 | 5 | 133657481:133657594:133685939:133686118:133695587:133695782 | 133685939:133686118 | ENSG00000006837.7 | ENST00000435211.1,ENST00000265334.4,ENST00000523832.1,ENST00000521118.1,ENST00000523054.1 |
exon_skip_444309 | 5 | 133685984:133686118:133695587:133695782:133706688:133706695 | 133695587:133695782 | ENSG00000006837.7 | ENST00000523054.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CDKL3 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_444218 | 5 | 133622040:133622250:133637830:133637901:133638280:133638378 | 133637830:133637901 | ENSG00000006837.7 | ENST00000520693.1,ENST00000435240.2 |
exon_skip_444219 | 5 | 133634319:133634401:133635346:133635441:133638280:133638378 | 133635346:133635441 | ENSG00000006837.7 | ENST00000523054.1 |
exon_skip_444220 | 5 | 133634319:133634401:133637830:133637901:133638280:133638378 | 133637830:133637901 | ENSG00000006837.7 | ENST00000518990.1 |
exon_skip_444223 | 5 | 133640095:133640258:133642299:133642393:133643828:133644157 | 133642299:133642393 | ENSG00000006837.7 | ENST00000609654.1,ENST00000536186.1,ENST00000520693.1,ENST00000435240.2,ENST00000519312.1,ENST00000265334.4,ENST00000523054.1,ENST00000521118.1 |
exon_skip_444233 | 5 | 133642299:133642393:133643828:133644157:133647982:133648071 | 133643828:133644157 | ENSG00000006837.7 | ENST00000519312.1 |
exon_skip_444243 | 5 | 133643828:133644157:133644264:133644418:133647982:133648071 | 133644264:133644418 | ENSG00000006837.7 | ENST00000609654.1,ENST00000536186.1,ENST00000265334.4,ENST00000523054.1,ENST00000521118.1,ENST00000523832.1,ENST00000435211.1 |
exon_skip_444244 | 5 | 133643828:133644157:133644264:133644418:133655048:133655080 | 133644264:133644418 | ENSG00000006837.7 | ENST00000520693.1,ENST00000435240.2,ENST00000520592.1 |
exon_skip_444245 | 5 | 133643828:133644157:133644264:133644418:133657481:133657594 | 133644264:133644418 | ENSG00000006837.7 | ENST00000609383.1 |
exon_skip_444248 | 5 | 133643828:133644157:133647982:133648071:133655048:133655080 | 133647982:133648071 | ENSG00000006837.7 | ENST00000519312.1 |
exon_skip_444255 | 5 | 133643828:133644157:133657481:133657594:133706688:133706695 | 133657481:133657594 | ENSG00000006837.7 | ENST00000521755.1 |
exon_skip_444259 | 5 | 133644264:133644418:133647982:133648071:133655048:133655080 | 133647982:133648071 | ENSG00000006837.7 | ENST00000609654.1,ENST00000265334.4,ENST00000523054.1,ENST00000521118.1,ENST00000523832.1,ENST00000435211.1 |
exon_skip_444260 | 5 | 133644264:133644418:133647982:133648071:133657481:133657594 | 133647982:133648071 | ENSG00000006837.7 | ENST00000536186.1 |
exon_skip_444263 | 5 | 133644264:133644418:133655048:133655188:133657481:133657594 | 133655048:133655188 | ENSG00000006837.7 | ENST00000520693.1,ENST00000435240.2 |
exon_skip_444269 | 5 | 133644264:133644418:133657481:133657594:133706688:133706695 | 133657481:133657594 | ENSG00000006837.7 | ENST00000609383.1 |
exon_skip_444278 | 5 | 133647982:133648071:133655048:133655188:133657481:133657594 | 133655048:133655188 | ENSG00000006837.7 | ENST00000609654.1,ENST00000519312.1,ENST00000265334.4,ENST00000523054.1,ENST00000521118.1,ENST00000523832.1,ENST00000435211.1 |
exon_skip_444281 | 5 | 133647982:133648071:133657481:133657594:133706688:133706695 | 133657481:133657594 | ENSG00000006837.7 | ENST00000536186.1 |
exon_skip_444283 | 5 | 133655048:133655188:133657481:133657594:133706688:133706695 | 133657481:133657594 | ENSG00000006837.7 | ENST00000520693.1,ENST00000435240.2,ENST00000519312.1,ENST00000522501.1 |
exon_skip_444293 | 5 | 133657481:133657594:133685939:133686118:133695587:133695782 | 133685939:133686118 | ENSG00000006837.7 | ENST00000265334.4,ENST00000523054.1,ENST00000521118.1,ENST00000523832.1,ENST00000435211.1 |
exon_skip_444307 | 5 | 133685939:133686118:133695587:133695782:133702049:133702214 | 133695587:133695782 | ENSG00000006837.7 | ENST00000265334.4,ENST00000521118.1,ENST00000523832.1,ENST00000435211.1 |
exon_skip_444309 | 5 | 133685984:133686118:133695587:133695782:133706688:133706695 | 133695587:133695782 | ENSG00000006837.7 | ENST00000523054.1 |
exon_skip_444313 | 5 | 133695587:133695782:133702049:133702235:133702667:133702761 | 133702049:133702235 | ENSG00000006837.7 | ENST00000265334.4,ENST00000521118.1,ENST00000435211.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CDKL3 |
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 |
ENST00000265334 | 133642299 | 133642393 | Frame-shift |
ENST00000265334 | 133644264 | 133644418 | Frame-shift |
ENST00000265334 | 133647982 | 133648071 | Frame-shift |
ENST00000265334 | 133655048 | 133655188 | Frame-shift |
ENST00000265334 | 133685939 | 133686118 | Frame-shift |
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 |
ENST00000265334 | 133702049 | 133702235 | 3UTR-3CDS |
ENST00000265334 | 133642299 | 133642393 | Frame-shift |
ENST00000265334 | 133644264 | 133644418 | Frame-shift |
ENST00000265334 | 133647982 | 133648071 | Frame-shift |
ENST00000265334 | 133655048 | 133655188 | Frame-shift |
ENST00000265334 | 133685939 | 133686118 | Frame-shift |
ENST00000265334 | 133695587 | 133695782 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CDKL3 |
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 |
ENST00000265334 | 2144 | 592 | 133695587 | 133695782 | 285 | 479 | 55 | 120 |
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 |
Q8IVW4 | 55 | 120 | 65 | 69 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZDU |
Q8IVW4 | 55 | 120 | 72 | 74 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZDU |
Q8IVW4 | 55 | 120 | 76 | 80 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZDU |
Q8IVW4 | 55 | 120 | 83 | 85 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZDU |
Q8IVW4 | 55 | 120 | 1 | 592 | Chain | ID=PRO_0000085820;Note=Cyclin-dependent kinase-like 3 |
Q8IVW4 | 55 | 120 | 4 | 286 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
Q8IVW4 | 55 | 120 | 45 | 56 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZDU |
Q8IVW4 | 55 | 120 | 86 | 92 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZDU |
Q8IVW4 | 55 | 120 | 99 | 118 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3ZDU |
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SNVs in the skipped exons for CDKL3 |
- 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-A1EG-01 | exon_skip_444243 exon_skip_444245 exon_skip_444244 | 133644265 | 133644418 | 133644309 | 133644309 | Frame_Shift_Del | T | - | p.T331fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_444243 exon_skip_444245 exon_skip_444244 | 133644265 | 133644418 | 133644309 | 133644309 | Frame_Shift_Del | T | - | p.T331fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_444259 exon_skip_444248 exon_skip_444260 | 133647983 | 133648071 | 133648022 | 133648022 | Frame_Shift_Del | A | - | p.L281fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_444293 | 133685940 | 133686118 | 133686084 | 133686084 | Frame_Shift_Del | A | - | p.L132fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_444293 | 133685940 | 133686118 | 133686098 | 133686098 | Frame_Shift_Del | T | - | p.K127fs |
UCEC | TCGA-B5-A0K9-01 | exon_skip_444293 | 133685940 | 133686118 | 133686098 | 133686098 | Frame_Shift_Del | T | - | p.K127fs |
LGG | TCGA-HT-7477-01 | exon_skip_444309 | 133695588 | 133695782 | 133695594 | 133695594 | Frame_Shift_Del | A | - | p.S118fs |
BLCA | TCGA-FD-A6TE-01 | exon_skip_444309 | 133695588 | 133695782 | 133695761 | 133695761 | Frame_Shift_Del | C | - | p.V63fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_444309 | 133695588 | 133695782 | 133695766 | 133695766 | Frame_Shift_Del | T | - | p.N61fs |
HNSC | TCGA-T2-A6X2-01 | exon_skip_444233 | 133643829 | 133644157 | 133644119 | 133644119 | Nonsense_Mutation | G | A | p.Q42* |
BLCA | TCGA-XF-A9T6-01 | exon_skip_444293 | 133685940 | 133686118 | 133685984 | 133685984 | Nonsense_Mutation | C | T | p.W165* |
READ | TCGA-F5-6814-01 | exon_skip_444309 | 133695588 | 133695782 | 133695617 | 133695617 | Nonsense_Mutation | G | A | p.R111X |
UCEC | TCGA-BS-A0UV-01 | exon_skip_444309 | 133695588 | 133695782 | 133695617 | 133695617 | Nonsense_Mutation | G | A | p.R111* |
STAD | TCGA-BR-8589-01 | exon_skip_444255 exon_skip_444283 exon_skip_444269 | 133657482 | 133657594 | 133657596 | 133657596 | Splice_Site | T | C | . |
STAD | TCGA-BR-8589-01 | exon_skip_444255 exon_skip_444283 exon_skip_444269 | 133657482 | 133657594 | 133657596 | 133657596 | Splice_Site | T | C | p.K180_splice |
- 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 |
DOTC24510_CERVIX | 133655049 | 133655188 | 133655149 | 133655149 | Frame_Shift_Del | C | - | p.S231fs |
MDAMB436_BREAST | 133655049 | 133655188 | 133655167 | 133655185 | Frame_Shift_Del | TGCAAGTGAGGTGACAAAT | - | p.NLSPHLQ219fs |
HS675T_FIBROBLAST | 133695588 | 133695782 | 133695604 | 133695605 | Frame_Shift_Ins | - | A | p.Y115fs |
RERFLCFM_LUNG | 133642300 | 133642393 | 133642336 | 133642336 | Missense_Mutation | C | T | p.M474I |
SNU1_STOMACH | 133642300 | 133642393 | 133642367 | 133642367 | Missense_Mutation | C | T | p.R464H |
SNU81_LARGE_INTESTINE | 133643829 | 133644157 | 133643848 | 133643848 | Missense_Mutation | G | T | p.L449I |
OVTOKO_OVARY | 133643829 | 133644157 | 133644028 | 133644028 | Missense_Mutation | C | G | p.E389Q |
KYSE510_OESOPHAGUS | 133643829 | 133644157 | 133644033 | 133644033 | Missense_Mutation | G | A | p.A387V |
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133643829 | 133644157 | 133644043 | 133644043 | Missense_Mutation | G | C | p.Q384E |
HEC151_ENDOMETRIUM | 133643829 | 133644157 | 133644100 | 133644100 | Missense_Mutation | C | G | p.G365R |
OVTOKO_OVARY | 133643829 | 133644157 | 133644145 | 133644145 | Missense_Mutation | C | G | p.E350Q |
SKGIIIA_CERVIX | 133644265 | 133644418 | 133644314 | 133644314 | Missense_Mutation | C | A | p.R329I |
HCC2998_LARGE_INTESTINE | 133647983 | 133648071 | 133647992 | 133647992 | Missense_Mutation | A | C | p.F291C |
HEC251_ENDOMETRIUM | 133647983 | 133648071 | 133647992 | 133647993 | Missense_Mutation | AA | CG | p.F291R |
HEC251_ENDOMETRIUM | 133647983 | 133648071 | 133647993 | 133647993 | Missense_Mutation | A | G | p.F291L |
SNU1040_LARGE_INTESTINE | 133647983 | 133648071 | 133647995 | 133647995 | Missense_Mutation | C | T | p.G290E |
MDAMB436_BREAST | 133655049 | 133655188 | 133655062 | 133655062 | Missense_Mutation | G | A | p.A260V |
BIN67_OVARY | 133655049 | 133655188 | 133655095 | 133655095 | Missense_Mutation | C | T | p.R249K |
CME1_SOFT_TISSUE | 133655049 | 133655188 | 133655095 | 133655095 | Missense_Mutation | C | T | p.R249K |
COGN278_AUTONOMIC_GANGLIA | 133655049 | 133655188 | 133655095 | 133655095 | Missense_Mutation | C | T | p.R249K |
RH41_SOFT_TISSUE | 133655049 | 133655188 | 133655095 | 133655095 | Missense_Mutation | C | T | p.R249K |
SCMCRM2_SOFT_TISSUE | 133655049 | 133655188 | 133655095 | 133655095 | Missense_Mutation | C | T | p.R249K |
SCS214_SOFT_TISSUE | 133655049 | 133655188 | 133655095 | 133655095 | Missense_Mutation | C | T | p.R249K |
CME1_SOFT_TISSUE | 133655049 | 133655188 | 133655098 | 133655098 | Missense_Mutation | G | T | p.A248E |
SH10TC_STOMACH | 133655049 | 133655188 | 133655134 | 133655134 | Missense_Mutation | C | A | p.G236V |
WM793_SKIN | 133655049 | 133655188 | 133655155 | 133655155 | Missense_Mutation | G | A | p.S229F |
JHU028_LUNG | 133655049 | 133655188 | 133655166 | 133655166 | Missense_Mutation | C | A | p.Q225H |
HEC251_ENDOMETRIUM | 133685940 | 133686118 | 133685949 | 133685949 | Missense_Mutation | G | T | p.S177Y |
NCIH661_LUNG | 133685940 | 133686118 | 133685988 | 133685988 | Missense_Mutation | C | T | p.R164H |
SNU81_LARGE_INTESTINE | 133685940 | 133686118 | 133686022 | 133686022 | Missense_Mutation | G | A | p.P153S |
RH28_SOFT_TISSUE | 133685940 | 133686118 | 133686055 | 133686055 | Missense_Mutation | A | C | p.C142G |
NH6_AUTONOMIC_GANGLIA | 133695588 | 133695782 | 133695607 | 133695607 | Missense_Mutation | T | A | p.D114V |
253J_URINARY_TRACT | 133695588 | 133695782 | 133695646 | 133695646 | Missense_Mutation | C | T | p.R101Q |
253JBV_URINARY_TRACT | 133695588 | 133695782 | 133695646 | 133695646 | Missense_Mutation | C | T | p.R101Q |
MFE319_ENDOMETRIUM | 133695588 | 133695782 | 133695650 | 133695650 | Missense_Mutation | T | C | p.K100E |
SNU81_LARGE_INTESTINE | 133695588 | 133695782 | 133695706 | 133695706 | Missense_Mutation | A | C | p.F81C |
EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133695588 | 133695782 | 133695771 | 133695771 | Missense_Mutation | G | T | p.H59Q |
HCC2998_LARGE_INTESTINE | 133644265 | 133644418 | 133644365 | 133644365 | Nonsense_Mutation | A | C | p.L312* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CDKL3 |
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 CDKL3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CDKL3 |
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RelatedDrugs for CDKL3 |
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 CDKL3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |