|
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 CAMK2B |
Gene summary |
Gene information | Gene symbol | CAMK2B | Gene ID | 816 |
Gene name | calcium/calmodulin dependent protein kinase II beta | |
Synonyms | CAM2|CAMK2|CAMKB|MRD54 | |
Cytomap | 7p13 | |
Type of gene | protein-coding | |
Description | calcium/calmodulin-dependent protein kinase type II subunit betaCaM kinase II beta subunitCaM-kinase II beta chaincaMK-II subunit betaproline rich calmodulin-dependent protein kinase | |
Modification date | 20180523 | |
UniProtAcc | Q13554 | |
Context | PubMed: CAMK2B [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 |
CAMK2B | GO:0046777 | protein autophosphorylation | 18817731 |
Top |
Exon skipping events across known transcript of Ensembl for CAMK2B 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 CAMK2B |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
Top |
Exon skipping events with PSIs in TCGA for CAMK2B |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_475162 | 7 | 44259660:44259893:44260214:44260231:44260424:44260500 | 44260214:44260231 | ENSG00000058404.15 | ENST00000347193.4 |
exon_skip_475163 | 7 | 44259660:44259893:44260214:44260309:44260424:44260500 | 44260214:44260309 | ENSG00000058404.15 | ENST00000497584.1,ENST00000466584.1,ENST00000457475.1,ENST00000353625.4,ENST00000353185.3,ENST00000395749.2,ENST00000440254.2,ENST00000258682.6,ENST00000350811.3,ENST00000358707.3,ENST00000425809.1,ENST00000489429.1,ENST00000346990.4,ENST00000395747.2 |
exon_skip_475173 | 7 | 44260424:44260500:44266114:44266243:44268394:44268523 | 44266114:44266243 | ENSG00000058404.15 | ENST00000395749.2,ENST00000489429.1 |
exon_skip_475185 | 7 | 44268394:44268523:44268986:44269100:44270604:44270653 | 44268986:44269100 | ENSG00000058404.15 | ENST00000395749.2 |
exon_skip_475194 | 7 | 44270604:44270653:44272420:44272465:44273988:44274060 | 44272420:44272465 | ENSG00000058404.15 | ENST00000497584.1,ENST00000457475.1,ENST00000353185.3,ENST00000395749.2,ENST00000440254.2,ENST00000258682.6,ENST00000523845.1,ENST00000350811.3,ENST00000433930.1,ENST00000502837.2,ENST00000395747.2 |
exon_skip_475195 | 7 | 44270604:44270653:44272420:44272465:44274237:44274275 | 44272420:44272465 | ENSG00000058404.15 | ENST00000347193.4 |
exon_skip_475196 | 7 | 44270604:44270653:44273988:44274060:44274237:44274275 | 44273988:44274060 | ENSG00000058404.15 | ENST00000358707.3 |
exon_skip_475199 | 7 | 44270604:44270653:44274237:44274278:44280305:44280348 | 44274237:44274278 | ENSG00000058404.15 | ENST00000353625.4 |
exon_skip_475200 | 7 | 44272420:44272465:44273988:44274060:44274237:44274275 | 44273988:44274060 | ENSG00000058404.15 | ENST00000497584.1,ENST00000457475.1,ENST00000353185.3,ENST00000395749.2,ENST00000440254.2,ENST00000258682.6,ENST00000523845.1,ENST00000350811.3,ENST00000433930.1,ENST00000502837.2,ENST00000395747.2 |
exon_skip_475201 | 7 | 44273988:44274060:44274237:44274275:44280305:44280348 | 44274237:44274275 | ENSG00000058404.15 | ENST00000258682.6 |
exon_skip_475202 | 7 | 44273988:44274060:44274237:44274278:44280305:44280348 | 44274237:44274278 | ENSG00000058404.15 | ENST00000457475.1,ENST00000358707.3,ENST00000395747.2 |
exon_skip_475203 | 7 | 44274237:44274275:44279187:44279262:44280305:44280348 | 44279187:44279262 | ENSG00000058404.15 | ENST00000497584.1,ENST00000395749.2,ENST00000440254.2,ENST00000347193.4,ENST00000523845.1,ENST00000350811.3,ENST00000433930.1,ENST00000502837.2 |
exon_skip_475204 | 7 | 44274237:44274275:44280305:44280348:44281298:44281382 | 44280305:44280348 | ENSG00000058404.15 | ENST00000258682.6 |
exon_skip_475206 | 7 | 44283083:44283126:44286718:44286791:44294140:44294206 | 44286718:44286791 | ENSG00000058404.15 | ENST00000497584.1,ENST00000484972.1,ENST00000457475.1,ENST00000353625.4,ENST00000353185.3,ENST00000395749.2,ENST00000440254.2,ENST00000347193.4,ENST00000258682.6,ENST00000495819.1,ENST00000350811.3,ENST00000415369.1,ENST00000358707.3,ENST00000497127.1,ENS |
exon_skip_475207 | 7 | 44283083:44283126:44286718:44286827:44294140:44294206 | 44286718:44286827 | ENSG00000058404.15 | ENST00000424197.1 |
exon_skip_475211 | 7 | 44294140:44294206:44298470:44298525:44302603:44302663 | 44298470:44298525 | ENSG00000058404.15 | ENST00000497584.1,ENST00000470984.1,ENST00000484972.1,ENST00000457475.1,ENST00000353625.4,ENST00000353185.3,ENST00000395749.2,ENST00000424197.1,ENST00000440254.2,ENST00000347193.4,ENST00000258682.6,ENST00000462128.1,ENST00000495819.1,ENST00000350811.3,ENS |
exon_skip_475215 | 7 | 44302603:44302663:44323729:44323824:44364625:44364789 | 44323729:44323824 | ENSG00000058404.15 | ENST00000495819.1 |
exon_skip_475216 | 7 | 44302603:44302663:44323729:44323824:44364955:44365020 | 44323729:44323824 | ENSG00000058404.15 | ENST00000457475.1,ENST00000353625.4,ENST00000353185.3,ENST00000395749.2,ENST00000424197.1,ENST00000440254.2,ENST00000347193.4,ENST00000258682.6,ENST00000523845.1,ENST00000358707.3,ENST00000421607.1,ENST00000346990.4,ENST00000502837.2,ENST00000395747.2 |
exon_skip_475218 | 7 | 44302603:44302663:44323729:44323824:44365533:44365766 | 44323729:44323824 | ENSG00000058404.15 | ENST00000470984.1 |
PSI values of skipped exons in TCGA. |
Top |
Exon skipping events with PSIs in GTEx for CAMK2B |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_475162 | 7 | 44259660:44259893:44260214:44260231:44260424:44260500 | 44260214:44260231 | ENSG00000058404.15 | ENST00000347193.4 |
exon_skip_475163 | 7 | 44259660:44259893:44260214:44260309:44260424:44260500 | 44260214:44260309 | ENSG00000058404.15 | ENST00000350811.3,ENST00000457475.1,ENST00000395749.2,ENST00000425809.1,ENST00000440254.2,ENST00000358707.3,ENST00000466584.1,ENST00000353625.4,ENST00000497584.1,ENST00000489429.1,ENST00000353185.3,ENST00000346990.4,ENST00000258682.6,ENST00000395747.2 |
exon_skip_475173 | 7 | 44260424:44260500:44266114:44266243:44268394:44268523 | 44266114:44266243 | ENSG00000058404.15 | ENST00000395749.2,ENST00000489429.1 |
exon_skip_475185 | 7 | 44268394:44268523:44268986:44269100:44270604:44270653 | 44268986:44269100 | ENSG00000058404.15 | ENST00000395749.2 |
exon_skip_475194 | 7 | 44270604:44270653:44272420:44272465:44273988:44274060 | 44272420:44272465 | ENSG00000058404.15 | ENST00000350811.3,ENST00000457475.1,ENST00000395749.2,ENST00000523845.1,ENST00000502837.2,ENST00000440254.2,ENST00000497584.1,ENST00000353185.3,ENST00000258682.6,ENST00000395747.2,ENST00000433930.1 |
exon_skip_475195 | 7 | 44270604:44270653:44272420:44272465:44274237:44274275 | 44272420:44272465 | ENSG00000058404.15 | ENST00000347193.4 |
exon_skip_475196 | 7 | 44270604:44270653:44273988:44274060:44274237:44274275 | 44273988:44274060 | ENSG00000058404.15 | ENST00000358707.3 |
exon_skip_475199 | 7 | 44270604:44270653:44274237:44274278:44280305:44280348 | 44274237:44274278 | ENSG00000058404.15 | ENST00000353625.4 |
exon_skip_475200 | 7 | 44272420:44272465:44273988:44274060:44274237:44274275 | 44273988:44274060 | ENSG00000058404.15 | ENST00000350811.3,ENST00000457475.1,ENST00000395749.2,ENST00000523845.1,ENST00000502837.2,ENST00000440254.2,ENST00000497584.1,ENST00000353185.3,ENST00000258682.6,ENST00000395747.2,ENST00000433930.1 |
exon_skip_475201 | 7 | 44273988:44274060:44274237:44274275:44280305:44280348 | 44274237:44274275 | ENSG00000058404.15 | ENST00000258682.6 |
exon_skip_475202 | 7 | 44273988:44274060:44274237:44274278:44280305:44280348 | 44274237:44274278 | ENSG00000058404.15 | ENST00000457475.1,ENST00000358707.3,ENST00000395747.2 |
exon_skip_475203 | 7 | 44274237:44274275:44279187:44279262:44280305:44280348 | 44279187:44279262 | ENSG00000058404.15 | ENST00000350811.3,ENST00000395749.2,ENST00000523845.1,ENST00000502837.2,ENST00000440254.2,ENST00000497584.1,ENST00000347193.4,ENST00000433930.1 |
exon_skip_475204 | 7 | 44274237:44274275:44280305:44280348:44281298:44281382 | 44280305:44280348 | ENSG00000058404.15 | ENST00000258682.6 |
exon_skip_475206 | 7 | 44283083:44283126:44286718:44286791:44294140:44294206 | 44286718:44286791 | ENSG00000058404.15 | ENST00000350811.3,ENST00000457475.1,ENST00000395749.2,ENST00000440254.2,ENST00000358707.3,ENST00000353625.4,ENST00000497584.1,ENST00000353185.3,ENST00000347193.4,ENST00000346990.4,ENST00000258682.6,ENST00000395747.2,ENST00000497127.1,ENST00000495819.1,ENS |
exon_skip_475207 | 7 | 44283083:44283126:44286718:44286827:44294140:44294206 | 44286718:44286827 | ENSG00000058404.15 | ENST00000424197.1 |
exon_skip_475211 | 7 | 44294140:44294206:44298470:44298525:44302603:44302663 | 44298470:44298525 | ENSG00000058404.15 | ENST00000350811.3,ENST00000457475.1,ENST00000395749.2,ENST00000440254.2,ENST00000358707.3,ENST00000353625.4,ENST00000497584.1,ENST00000353185.3,ENST00000347193.4,ENST00000346990.4,ENST00000258682.6,ENST00000395747.2,ENST00000495819.1,ENST00000415369.1,ENS |
exon_skip_475215 | 7 | 44302603:44302663:44323729:44323824:44364625:44364789 | 44323729:44323824 | ENSG00000058404.15 | ENST00000495819.1 |
exon_skip_475216 | 7 | 44302603:44302663:44323729:44323824:44364955:44365020 | 44323729:44323824 | ENSG00000058404.15 | ENST00000457475.1,ENST00000395749.2,ENST00000523845.1,ENST00000502837.2,ENST00000440254.2,ENST00000358707.3,ENST00000353625.4,ENST00000353185.3,ENST00000347193.4,ENST00000346990.4,ENST00000258682.6,ENST00000395747.2,ENST00000424197.1,ENST00000421607.1 |
exon_skip_475218 | 7 | 44302603:44302663:44323729:44323824:44365533:44365766 | 44323729:44323824 | ENSG00000058404.15 | ENST00000470984.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for CAMK2B |
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 |
ENST00000395749 | 44260214 | 44260309 | Frame-shift |
ENST00000395749 | 44286718 | 44286791 | Frame-shift |
ENST00000395749 | 44298470 | 44298525 | Frame-shift |
ENST00000395749 | 44323729 | 44323824 | Frame-shift |
ENST00000395749 | 44266114 | 44266243 | In-frame |
ENST00000395749 | 44268986 | 44269100 | In-frame |
ENST00000395749 | 44272420 | 44272465 | In-frame |
ENST00000395749 | 44273988 | 44274060 | In-frame |
ENST00000395749 | 44279187 | 44279262 | 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 |
ENST00000395749 | 44260214 | 44260309 | Frame-shift |
ENST00000395749 | 44286718 | 44286791 | Frame-shift |
ENST00000395749 | 44298470 | 44298525 | Frame-shift |
ENST00000395749 | 44323729 | 44323824 | Frame-shift |
ENST00000395749 | 44266114 | 44266243 | In-frame |
ENST00000395749 | 44268986 | 44269100 | In-frame |
ENST00000395749 | 44272420 | 44272465 | In-frame |
ENST00000395749 | 44273988 | 44274060 | In-frame |
ENST00000395749 | 44279187 | 44279262 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for CAMK2B |
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 |
ENST00000395749 | 4464 | 666 | 44279187 | 44279262 | 1024 | 1098 | 315 | 340 |
ENST00000395749 | 4464 | 666 | 44273988 | 44274060 | 1137 | 1208 | 353 | 377 |
ENST00000395749 | 4464 | 666 | 44272420 | 44272465 | 1209 | 1253 | 377 | 392 |
ENST00000395749 | 4464 | 666 | 44268986 | 44269100 | 1303 | 1416 | 408 | 446 |
ENST00000395749 | 4464 | 666 | 44266114 | 44266243 | 1546 | 1674 | 489 | 532 |
ENST00000395749 | 4464 | 666 | 44266114 | 44266243 | 1546 | 1674 | 489 | 532 |
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 |
ENST00000395749 | 4464 | 666 | 44279187 | 44279262 | 1024 | 1098 | 315 | 340 |
ENST00000395749 | 4464 | 666 | 44273988 | 44274060 | 1137 | 1208 | 353 | 377 |
ENST00000395749 | 4464 | 666 | 44272420 | 44272465 | 1209 | 1253 | 377 | 392 |
ENST00000395749 | 4464 | 666 | 44268986 | 44269100 | 1303 | 1416 | 408 | 446 |
ENST00000395749 | 4464 | 666 | 44266114 | 44266243 | 1546 | 1674 | 489 | 532 |
ENST00000395749 | 4464 | 666 | 44266114 | 44266243 | 1546 | 1674 | 489 | 532 |
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 CAMK2B |
- 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_475163 | 44260215 | 44260309 | 44260246 | 44260246 | Frame_Shift_Del | C | - | p.G579fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_475185 | 44268987 | 44269100 | 44269096 | 44269096 | Frame_Shift_Del | G | - | p.P410fs |
THCA | TCGA-EL-A3H2-01 | exon_skip_475185 | 44268987 | 44269100 | 44269096 | 44269096 | Frame_Shift_Del | G | - | p.P410fs |
PCPG | TCGA-QR-A70H-01 | exon_skip_475196 exon_skip_475200 | 44273989 | 44274060 | 44273998 | 44273998 | Frame_Shift_Del | A | - | p.P374fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_475196 exon_skip_475200 | 44273989 | 44274060 | 44274038 | 44274038 | Frame_Shift_Del | T | - | p.N361fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_475203 | 44279188 | 44279262 | 44279201 | 44279201 | Frame_Shift_Del | C | - | p.G336fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_475206 | 44286719 | 44286791 | 44286739 | 44286739 | Frame_Shift_Del | C | - | p.V133fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_475207 | 44286719 | 44286827 | 44286739 | 44286739 | Frame_Shift_Del | C | - | p.V133fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_475218 exon_skip_475215 exon_skip_475216 | 44323730 | 44323824 | 44323744 | 44323744 | Frame_Shift_Del | T | - | p.K49fs |
SKCM | TCGA-DA-A95V-06 | exon_skip_475173 | 44266115 | 44266243 | 44266158 | 44266159 | Frame_Shift_Ins | - | G | p.P518fs |
- 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 |
KYSE30_OESOPHAGUS | 44266115 | 44266243 | 44266223 | 44266223 | Frame_Shift_Del | G | - | p.L497fs |
RERFLCFM_LUNG | 44266115 | 44266243 | 44266223 | 44266223 | Frame_Shift_Del | G | - | p.L497fs |
HCC2450_LUNG | 44268987 | 44269100 | 44269006 | 44269007 | Frame_Shift_Del | AA | - | p.F440fs |
HPAC_PANCREAS | 44266115 | 44266243 | 44266169 | 44266169 | Missense_Mutation | C | T | p.V515M |
PLCPRF5_LIVER | 44279188 | 44279262 | 44279221 | 44279221 | Missense_Mutation | C | A | p.A330S |
CW2_LARGE_INTESTINE | 44298471 | 44298525 | 44298523 | 44298523 | Missense_Mutation | G | A | p.R75C |
NCIH2066_LUNG | 44266115 | 44266243 | 44266115 | 44266115 | Splice_Site | A | G | p.S533P |
MEWO_SKIN | 44280306 | 44280348 | 44280348 | 44280348 | Splice_Site | C | T | p.G302R |
COLO792_SKIN | 44298471 | 44298525 | 44298472 | 44298472 | Splice_Site | G | A | p.L92L |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CAMK2B |
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 CAMK2B |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CAMK2B |
Top |
RelatedDrugs for CAMK2B |
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 |
Q13554 | DB12010 | Fostamatinib | Calcium/calmodulin-dependent protein kinase type II subunit beta | small molecule | approved|investigational |
Top |
RelatedDiseases for CAMK2B |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
CAMK2B | C0036341 | Schizophrenia | 2 | CTD_human |
CAMK2B | C0024809 | Marijuana Abuse | 1 | CTD_human |
CAMK2B | C0031391 | Phencyclidine Abuse | 1 | CTD_human |
CAMK2B | C0033941 | Psychoses, Substance-Induced | 1 | CTD_human |
CAMK2B | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |