ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for TBK1

Gene summary

Gene information	Gene symbol	TBK1
	Gene ID	29110
	Gene name	TANK binding kinase 1
	Synonyms	FTDALS4\|IIAE8\|NAK\|T2K
	Cytomap	12q14.2
	Type of gene	protein-coding
	Description	serine/threonine-protein kinase TBK1NF-kB-activating kinaseNF-kappa-B-activating kinase
	Modification date	20180523
	UniProtAcc	Q9UHD2
	Context	PubMed: TBK1 [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
TBK1	GO:0006468	protein phosphorylation	27103069
TBK1	GO:0016239	positive regulation of macroautophagy	27103069
TBK1	GO:0018105	peptidyl-serine phosphorylation	25803835\|27103069
TBK1	GO:0018107	peptidyl-threonine phosphorylation	27103069
TBK1	GO:0032727	positive regulation of interferon-alpha production	16127453
TBK1	GO:0032728	positive regulation of interferon-beta production	16127453
TBK1	GO:0045944	positive regulation of transcription by RNA polymerase II	16127453

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Exon skipping events across known transcript of Ensembl for TBK1 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 TBK1

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 TBK1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_84953	12	64849696:64849737:64853968:64854109:64858113:64858179	64853968:64854109	ENSG00000183735.5	ENST00000540417.1,ENST00000539810.1,ENST00000331710.5,ENST00000538890.1
exon_skip_84955	12	64879705:64879797:64882266:64882368:64883820:64883899	64882266:64882368	ENSG00000183735.5	ENST00000331710.5
exon_skip_84956	12	64882266:64882368:64883820:64883899:64889262:64889384	64883820:64883899	ENSG00000183735.5	ENST00000331710.5
exon_skip_84958	12	64889262:64889384:64889478:64889555:64890146:64890186	64889478:64889555	ENSG00000183735.5	ENST00000331710.5
exon_skip_84961	12	64891427:64891534:64891747:64891819:64895109:64895888	64891747:64891819	ENSG00000183735.5	ENST00000331710.5

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for TBK1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_84953	12	64849696:64849737:64853968:64854109:64858113:64858179	64853968:64854109	ENSG00000183735.5	ENST00000331710.5,ENST00000538890.1,ENST00000540417.1,ENST00000539810.1
exon_skip_84955	12	64879705:64879797:64882266:64882368:64883820:64883899	64882266:64882368	ENSG00000183735.5	ENST00000331710.5
exon_skip_84956	12	64882266:64882368:64883820:64883899:64889262:64889384	64883820:64883899	ENSG00000183735.5	ENST00000331710.5
exon_skip_84958	12	64889262:64889384:64889478:64889555:64890146:64890186	64889478:64889555	ENSG00000183735.5	ENST00000331710.5
exon_skip_84961	12	64891427:64891534:64891747:64891819:64895109:64895888	64891747:64891819	ENSG00000183735.5	ENST00000331710.5

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 TBK1

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
ENST00000331710	64883820	64883899	Frame-shift
ENST00000331710	64889478	64889555	Frame-shift
ENST00000331710	64853968	64854109	In-frame
ENST00000331710	64882266	64882368	In-frame
ENST00000331710	64891747	64891819	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
ENST00000331710	64883820	64883899	Frame-shift
ENST00000331710	64889478	64889555	Frame-shift
ENST00000331710	64853968	64854109	In-frame
ENST00000331710	64882266	64882368	In-frame
ENST00000331710	64891747	64891819	In-frame

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Infer the effects of exon skipping event on protein functional features for TBK1

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
ENST00000331710	3273	729	64853968	64854109	427	567	29	76
ENST00000331710	3273	729	64882266	64882368	1680	1781	447	480
ENST00000331710	3273	729	64891747	64891819	2406	2477	689	712

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
ENST00000331710	3273	729	64853968	64854109	427	567	29	76
ENST00000331710	3273	729	64882266	64882368	1680	1781	447	480
ENST00000331710	3273	729	64891747	64891819	2406	2477	689	712

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
Q9UHD2	29	76	34	40	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4EUU
Q9UHD2	29	76	65	67	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IWO
Q9UHD2	29	76	70	75	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4EUU
Q9UHD2	29	76	38	38	Binding site	Note=ATP;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UHD2	29	76	1	729	Chain	ID=PRO_0000086743;Note=Serine/threonine-protein kinase TBK1
Q9UHD2	29	76	30	30	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23453971;Dbxref=PMID:23453971
Q9UHD2	29	76	9	310	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9UHD2	29	76	42	46	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4EUU
Q9UHD2	29	76	49	61	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4EUU
Q9UHD2	29	76	30	30	Mutagenesis	Note=Decreases ubiquitination. Abolishes ubiquitination%2C phosphorylation and kinase activity%3B when associated with R-401. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23453971;Dbxref=PMID:23453971
Q9UHD2	29	76	33	33	Mutagenesis	Note=Decreases phosphorylation and kinase activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23453971;Dbxref=PMID:23453971
Q9UHD2	29	76	38	38	Mutagenesis	Note=Loss of kinase activity. K->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10581243,ECO:0000269\|PubMed:22851595,ECO:0000269\|PubMed:23453971,ECO:0000269\|PubMed:23453972;Dbxref=PMID:10581243,PMID:22851595,PM
Q9UHD2	29	76	47	47	Natural variant	ID=VAR_073938;Note=In FTDALS4%3B loss of kinase activity. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25803835;Dbxref=PMID:25803835
Q9UHD2	29	76	50	50	Natural variant	ID=VAR_080517;Note=In IIAE8%3B decreased expression levels. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22851595;Dbxref=dbSNP:rs1010930015,PMID:22851595
Q9UHD2	29	76	29	31	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4EUU
Q9UHD2	447	480	1	729	Chain	ID=PRO_0000086743;Note=Serine/threonine-protein kinase TBK1
Q9UHD2	447	480	407	657	Coiled coil	.
Q9UHD2	447	480	408	480	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IM0
Q9UHD2	447	480	448	448	Mutagenesis	Note=Decreases phosphorylation and kinase activity. Abolishes dimerization%3B when associated with R-355. E->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23453972;Dbxref=PMID:23453972
Q9UHD2	447	480	459	459	Mutagenesis	Note=Abolishes dimerization and decreases kinase activity but no effect on phosphorylation%3B when associated with E-466 and E-470. H->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23453972;Dbxref=PMID:23453972
Q9UHD2	447	480	466	466	Mutagenesis	Note=Abolishes dimerization and decreases kinase activity but no effect on phosphorylation%3B when associated with E-459 and E-470. I->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23453972;Dbxref=PMID:23453972
Q9UHD2	447	480	470	470	Mutagenesis	Note=Abolishes dimerization and decreases kinase activity but no effect on phosphorylation%3B when associated with E-459 and E-466. F->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23453972;Dbxref=PMID:23453972
Q9UHD2	447	480	464	464	Natural variant	ID=VAR_041212;Note=V->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|PubMed:21447600;Dbxref=dbSNP:rs35635889,PMID:17344846,PMID:21447600
Q9UHD2	689	712	1	729	Chain	ID=PRO_0000086743;Note=Serine/threonine-protein kinase TBK1
Q9UHD2	689	712	658	713	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UHD2	689	712	680	714	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5EP6
Q9UHD2	689	712	690	690	Mutagenesis	Note=Decreases interaction with TANK. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21931631;Dbxref=PMID:21931631
Q9UHD2	689	712	693	693	Mutagenesis	Note=Almost abolishes interaction with TANK. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21931631;Dbxref=PMID:21931631
Q9UHD2	689	712	694	694	Mutagenesis	Note=Strongly decreases interaction with TANK and TBKBP1. No effect on phosphorylation. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21931631;Dbxref=PMID:21931631
Q9UHD2	689	712	704	704	Mutagenesis	Note=Strongly decreases interaction with AZI2%2C TANK and TBKBP1. No effect on phosphorylation. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21931631;Dbxref=PMID:21931631
Q9UHD2	689	712	708	708	Mutagenesis	Note=Decreases interaction with TANK. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21931631;Dbxref=PMID:21931631
Q9UHD2	689	712	711	711	Mutagenesis	Note=Almost abolishes interaction with TANK. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21931631;Dbxref=PMID:21931631
Q9UHD2	689	712	696	696	Natural variant	ID=VAR_073948;Note=In FTDALS4%3B loss of kinase activity%3B impairs binding to OPTN. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:25803835,ECO:0000269\|PubMed:25943890;Dbxref=dbSNP:rs748112833,PMID:25803835,PMID:25943890

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
Q9UHD2	29	76	34	40	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4EUU
Q9UHD2	29	76	65	67	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IWO
Q9UHD2	29	76	70	75	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4EUU
Q9UHD2	29	76	38	38	Binding site	Note=ATP;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UHD2	29	76	1	729	Chain	ID=PRO_0000086743;Note=Serine/threonine-protein kinase TBK1
Q9UHD2	29	76	30	30	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin);Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23453971;Dbxref=PMID:23453971
Q9UHD2	29	76	9	310	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q9UHD2	29	76	42	46	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4EUU
Q9UHD2	29	76	49	61	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4EUU
Q9UHD2	29	76	30	30	Mutagenesis	Note=Decreases ubiquitination. Abolishes ubiquitination%2C phosphorylation and kinase activity%3B when associated with R-401. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23453971;Dbxref=PMID:23453971
Q9UHD2	29	76	33	33	Mutagenesis	Note=Decreases phosphorylation and kinase activity. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23453971;Dbxref=PMID:23453971
Q9UHD2	29	76	38	38	Mutagenesis	Note=Loss of kinase activity. K->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:10581243,ECO:0000269\|PubMed:22851595,ECO:0000269\|PubMed:23453971,ECO:0000269\|PubMed:23453972;Dbxref=PMID:10581243,PMID:22851595,PM
Q9UHD2	29	76	47	47	Natural variant	ID=VAR_073938;Note=In FTDALS4%3B loss of kinase activity. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25803835;Dbxref=PMID:25803835
Q9UHD2	29	76	50	50	Natural variant	ID=VAR_080517;Note=In IIAE8%3B decreased expression levels. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22851595;Dbxref=dbSNP:rs1010930015,PMID:22851595
Q9UHD2	29	76	29	31	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4EUU
Q9UHD2	447	480	1	729	Chain	ID=PRO_0000086743;Note=Serine/threonine-protein kinase TBK1
Q9UHD2	447	480	407	657	Coiled coil	.
Q9UHD2	447	480	408	480	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4IM0
Q9UHD2	447	480	448	448	Mutagenesis	Note=Decreases phosphorylation and kinase activity. Abolishes dimerization%3B when associated with R-355. E->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23453972;Dbxref=PMID:23453972
Q9UHD2	447	480	459	459	Mutagenesis	Note=Abolishes dimerization and decreases kinase activity but no effect on phosphorylation%3B when associated with E-466 and E-470. H->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23453972;Dbxref=PMID:23453972
Q9UHD2	447	480	466	466	Mutagenesis	Note=Abolishes dimerization and decreases kinase activity but no effect on phosphorylation%3B when associated with E-459 and E-470. I->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23453972;Dbxref=PMID:23453972
Q9UHD2	447	480	470	470	Mutagenesis	Note=Abolishes dimerization and decreases kinase activity but no effect on phosphorylation%3B when associated with E-459 and E-466. F->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23453972;Dbxref=PMID:23453972
Q9UHD2	447	480	464	464	Natural variant	ID=VAR_041212;Note=V->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:17344846,ECO:0000269\|PubMed:21447600;Dbxref=dbSNP:rs35635889,PMID:17344846,PMID:21447600
Q9UHD2	689	712	1	729	Chain	ID=PRO_0000086743;Note=Serine/threonine-protein kinase TBK1
Q9UHD2	689	712	658	713	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9UHD2	689	712	680	714	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5EP6
Q9UHD2	689	712	690	690	Mutagenesis	Note=Decreases interaction with TANK. M->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21931631;Dbxref=PMID:21931631
Q9UHD2	689	712	693	693	Mutagenesis	Note=Almost abolishes interaction with TANK. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21931631;Dbxref=PMID:21931631
Q9UHD2	689	712	694	694	Mutagenesis	Note=Strongly decreases interaction with TANK and TBKBP1. No effect on phosphorylation. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21931631;Dbxref=PMID:21931631
Q9UHD2	689	712	704	704	Mutagenesis	Note=Strongly decreases interaction with AZI2%2C TANK and TBKBP1. No effect on phosphorylation. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21931631;Dbxref=PMID:21931631
Q9UHD2	689	712	708	708	Mutagenesis	Note=Decreases interaction with TANK. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21931631;Dbxref=PMID:21931631
Q9UHD2	689	712	711	711	Mutagenesis	Note=Almost abolishes interaction with TANK. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21931631;Dbxref=PMID:21931631
Q9UHD2	689	712	696	696	Natural variant	ID=VAR_073948;Note=In FTDALS4%3B loss of kinase activity%3B impairs binding to OPTN. E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:25803835,ECO:0000269\|PubMed:25943890;Dbxref=dbSNP:rs748112833,PMID:25803835,PMID:25943890

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SNVs in the skipped exons for TBK1

- 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_84953	64853969	64854109	64854059	64854059	Frame_Shift_Del	A	-	p.K61fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_84953	64853969	64854109	64854059	64854059	Frame_Shift_Del	A	-	p.K61fs
LIHC	TCGA-DD-A3A0-01	exon_skip_84955	64882267	64882368	64882345	64882345	Frame_Shift_Del	A	-	p.R473fs
LIHC	TCGA-DD-A1EG-01	exon_skip_84955	64882267	64882368	64882353	64882353	Frame_Shift_Del	A	-	p.E476fs
LIHC	TCGA-DD-A39Y-01	exon_skip_84955	64882267	64882368	64882353	64882353	Frame_Shift_Del	A	-	p.E476fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_84956	64883821	64883899	64883826	64883826	Frame_Shift_Del	A	-	p.E483fs
UCEC	TCGA-D1-A103-01	exon_skip_84958	64889479	64889555	64889478	64889478	Splice_Site	G	A	e14-1

- 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
NCIH854_LUNG	64853969	64854109	64854053	64854053	Missense_Mutation	G	A	p.V58M
NCIH1975_LUNG	64882267	64882368	64882290	64882290	Missense_Mutation	A	G	p.N455S
DANG_PANCREAS	64882267	64882368	64882299	64882299	Missense_Mutation	T	C	p.V458A
BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64882267	64882368	64882331	64882331	Missense_Mutation	G	T	p.D469Y
SHP77_LUNG	64889479	64889555	64889492	64889492	Missense_Mutation	C	G	p.Q553E
SISO_CERVIX	64889479	64889555	64889496	64889496	Missense_Mutation	T	C	p.V554A
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	64889479	64889555	64889496	64889496	Missense_Mutation	T	C	p.V554A
KMBC2_URINARY_TRACT	64889479	64889555	64889516	64889516	Missense_Mutation	G	A	p.E561K
HEC251_ENDOMETRIUM	64891748	64891819	64891791	64891791	Missense_Mutation	C	T	p.L704F

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TBK1

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 TBK1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TBK1

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RelatedDrugs for TBK1

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
	Q9UHD2	DB12010	Fostamatinib	Serine/threonine-protein kinase TBK1	small molecule	approved\|investigational

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RelatedDiseases for TBK1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
TBK1	C4225325	FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4	2	UNIPROT

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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