ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ACTB

Gene summary

Gene information	Gene symbol	ACTB
	Gene ID	60
	Gene name	actin beta
	Synonyms	BRWS1\|PS1TP5BP1
	Cytomap	7p22.1
	Type of gene	protein-coding
	Description	actin, cytoplasmic 1I(2)-actinPS1TP5-binding protein 1beta cytoskeletal actin
	Modification date	20180522
	UniProtAcc	P60709
	Context	PubMed: ACTB [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
ACTB	GO:0098974	postsynaptic actin cytoskeleton organization	18341992

Top

Exon skipping events across known transcript of Ensembl for ACTB 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 ACTB

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for ACTB

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_473462	7	5567371:5567522:5567634:5568350:5568791:5569031	5567634:5568350	ENSG00000075624.9	ENST00000493945.1
exon_skip_473463	7	5568302:5568350:5568649:5568690:5568791:5568833	5568649:5568690	ENSG00000075624.9	ENST00000425660.1
exon_skip_473467	7	5568323:5568350:5568791:5569294:5570154:5570235	5568791:5569294	ENSG00000075624.9	ENST00000477812.1
exon_skip_473470	7	5568912:5569031:5569165:5569294:5570154:5570214	5569165:5569294	ENSG00000075624.9	ENST00000462494.1,ENST00000425660.1,ENST00000331789.5
exon_skip_473471	7	5568912:5569031:5569165:5569364:5570154:5570214	5569165:5569364	ENSG00000075624.9	ENST00000484841.1
exon_skip_473474	7	5569165:5569294:5580306:5580402:5602204:5602421	5580306:5580402	ENSG00000075624.9	ENST00000414620.1

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for ACTB

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_473462	7	5567371:5567522:5567634:5568350:5568791:5569031	5567634:5568350	ENSG00000075624.9	ENST00000493945.1
exon_skip_473463	7	5568302:5568350:5568649:5568690:5568791:5568833	5568649:5568690	ENSG00000075624.9	ENST00000425660.1
exon_skip_473467	7	5568323:5568350:5568791:5569294:5570154:5570235	5568791:5569294	ENSG00000075624.9	ENST00000477812.1
exon_skip_473470	7	5568912:5569031:5569165:5569294:5570154:5570214	5569165:5569294	ENSG00000075624.9	ENST00000331789.5,ENST00000425660.1,ENST00000462494.1
exon_skip_473471	7	5568912:5569031:5569165:5569364:5570154:5570214	5569165:5569364	ENSG00000075624.9	ENST00000484841.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for ACTB

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
ENST00000331789	5569165	5569294	3UTR-3CDS

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
ENST00000331789	5569165	5569294	3UTR-3CDS

Top

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

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

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 ACTB

- 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.

ACTB_DLBC_exon_skip_473467_psi_boxplot.png
boxplot

ACTB_LIHC_exon_skip_473467_psi_boxplot.png
boxplot

- 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
UCEC	TCGA-BK-A0C9-01	exon_skip_473462	5567635	5568350	5567994	5567994	Frame_Shift_Del	G	-	p.Y240fs
LIHC	TCGA-DD-A3A0-01	exon_skip_473462	5567635	5568350	5568197	5568197	Frame_Shift_Del	G	-	p.H173fs
LIHC	TCGA-DD-A1EG-01	exon_skip_473467	5568792	5569294	5568819	5568819	Frame_Shift_Del	G	-	p.P112fs
LIHC	TCGA-DD-A39Y-01	exon_skip_473467	5568792	5569294	5568827	5568827	Frame_Shift_Del	G	-	p.L110fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_473467	5568792	5569294	5569012	5569012	Frame_Shift_Del	C	-	p.G48fs
BLCA	TCGA-CF-A47S-01	exon_skip_473467	5568792	5569294	5568826	5568827	Frame_Shift_Ins	-	G	p.L110fs
UCEC	TCGA-D1-A177-01	exon_skip_473467	5568792	5569294	5569206	5569207	Frame_Shift_Ins	-	G	p.R28fs
UCEC	TCGA-D1-A177-01	exon_skip_473470	5569166	5569294	5569206	5569207	Frame_Shift_Ins	-	G	p.R28fs
UCEC	TCGA-D1-A177-01	exon_skip_473471	5569166	5569364	5569206	5569207	Frame_Shift_Ins	-	G	p.R28fs
PAAD	TCGA-2J-AAB4-01	exon_skip_473470	5569166	5569294	5569164	5569164	Splice_Site	A	C	.
PAAD	TCGA-2J-AAB4-01	exon_skip_473471	5569166	5569364	5569164	5569164	Splice_Site	A	C	.
DLBC	TCGA-GS-A9TZ-01	exon_skip_473467	5568792	5569294	5569295	5569295	Splice_Site	C	T	.
DLBC	TCGA-GS-A9TZ-01	exon_skip_473470	5569166	5569294	5569295	5569295	Splice_Site	C	T	.

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-2J-AAB4-01
	Cancer type: PAAD
	ESID: exon_skip_473470
	Skipped exon start: 5569166
	Skipped exon end: 5569294
	Mutation start: 5569164
	Mutation end: 5569164
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: C
	AAchange: .
	Sample: TCGA-2J-AAB4-01
	Cancer type: PAAD
	ESID: exon_skip_473471
	Skipped exon start: 5569166
	Skipped exon end: 5569364
	Mutation start: 5569164
	Mutation end: 5569164
	Mutation type: Splice_Site
	Reference seq: A
	Mutation seq: C
	AAchange: .
exon_skip_473471_PAAD_TCGA-2J-AAB4-01.png
	Sample: TCGA-D1-A177-01
	Cancer type: UCEC
	ESID: exon_skip_473467
	Skipped exon start: 5568792
	Skipped exon end: 5569294
	Mutation start: 5569206
	Mutation end: 5569207
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.R28fs
	Sample: TCGA-D1-A177-01
	Cancer type: UCEC
	ESID: exon_skip_473470
	Skipped exon start: 5569166
	Skipped exon end: 5569294
	Mutation start: 5569206
	Mutation end: 5569207
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.R28fs
	Sample: TCGA-D1-A177-01
	Cancer type: UCEC
	ESID: exon_skip_473471
	Skipped exon start: 5569166
	Skipped exon end: 5569364
	Mutation start: 5569206
	Mutation end: 5569207
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.R28fs
exon_skip_357723_UCEC_TCGA-D1-A177-01.png
exon_skip_357725_UCEC_TCGA-D1-A177-01.png
exon_skip_473467_UCEC_TCGA-D1-A177-01.png
exon_skip_473471_UCEC_TCGA-D1-A177-01.png
exon_skip_48296_UCEC_TCGA-D1-A177-01.png
exon_skip_48299_UCEC_TCGA-D1-A177-01.png
exon_skip_84515_UCEC_TCGA-D1-A177-01.png
exon_skip_9817_UCEC_TCGA-D1-A177-01.png
	Sample: TCGA-GS-A9TZ-01
	Cancer type: DLBC
	ESID: exon_skip_473467
	Skipped exon start: 5568792
	Skipped exon end: 5569294
	Mutation start: 5569295
	Mutation end: 5569295
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: .
	Sample: TCGA-GS-A9TZ-01
	Cancer type: DLBC
	ESID: exon_skip_473470
	Skipped exon start: 5569166
	Skipped exon end: 5569294
	Mutation start: 5569295
	Mutation end: 5569295
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: .
exon_skip_318529_DLBC_TCGA-GS-A9TZ-01.png
exon_skip_449028_DLBC_TCGA-GS-A9TZ-01.png
exon_skip_457580_DLBC_TCGA-GS-A9TZ-01.png
exon_skip_457585_DLBC_TCGA-GS-A9TZ-01.png
exon_skip_473467_DLBC_TCGA-GS-A9TZ-01.png
	Sample: TCGA-D1-A177-01
	Cancer type: UCEC
	ESID: exon_skip_473467
	Skipped exon start: 5568792
	Skipped exon end: 5569294
	Mutation start: 5569206
	Mutation end: 5569207
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.R28fs
	Sample: TCGA-D1-A177-01
	Cancer type: UCEC
	ESID: exon_skip_473470
	Skipped exon start: 5569166
	Skipped exon end: 5569294
	Mutation start: 5569206
	Mutation end: 5569207
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.R28fs
	Sample: TCGA-D1-A177-01
	Cancer type: UCEC
	ESID: exon_skip_473471
	Skipped exon start: 5569166
	Skipped exon end: 5569364
	Mutation start: 5569206
	Mutation end: 5569207
	Mutation type: Frame_Shift_Ins
	Reference seq: -
	Mutation seq: G
	AAchange: p.R28fs
exon_skip_357723_UCEC_TCGA-D1-A177-01.png
exon_skip_357725_UCEC_TCGA-D1-A177-01.png
exon_skip_473467_UCEC_TCGA-D1-A177-01.png
exon_skip_473471_UCEC_TCGA-D1-A177-01.png
exon_skip_48296_UCEC_TCGA-D1-A177-01.png
exon_skip_48299_UCEC_TCGA-D1-A177-01.png
exon_skip_84515_UCEC_TCGA-D1-A177-01.png
exon_skip_9817_UCEC_TCGA-D1-A177-01.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
SW684_SOFT_TISSUE	5567635	5568350	5568078	5568078	Frame_Shift_Del	A	-	p.I212fs
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5567635	5568350	5568123	5568126	Frame_Shift_Del	GCCG	-	p.RG196fs
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5567635	5568350	5568197	5568197	Frame_Shift_Del	G	-	p.H173fs
COLO824_BREAST	5567635	5568350	5568333	5568333	Frame_Shift_Del	G	-	p.F127fs
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5568792	5569294	5568845	5568845	Frame_Shift_Del	G	-	p.L105fs
H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5567635	5568350	5567688	5567689	Frame_Shift_Ins	-	GG	p.D311fs
HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5567635	5568350	5567688	5567689	Frame_Shift_Ins	-	GG	p.D311fs
769P_KIDNEY	5567635	5568350	5567775	5567776	Frame_Shift_Ins	-	G	p.I282fs
EFO27_OVARY	5568792	5569294	5568884	5568886	In_Frame_Del	AGA	-	p.F90del
HEC59_ENDOMETRIUM	5567635	5568350	5567667	5567667	Missense_Mutation	T	A	p.T318S
CCK81_LARGE_INTESTINE	5567635	5568350	5567762	5567762	Missense_Mutation	T	C	p.D286G
H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5567635	5568350	5567789	5567789	Missense_Mutation	G	C	p.T277S
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5567635	5568350	5567938	5567938	Missense_Mutation	T	G	p.E259A
HEC265_ENDOMETRIUM	5567635	5568350	5567948	5567948	Missense_Mutation	G	A	p.R256C
MDST8_LARGE_INTESTINE	5567635	5568350	5567957	5567957	Missense_Mutation	C	T	p.E253K
NCIH250_LUNG	5567635	5568350	5568036	5568036	Missense_Mutation	C	G	p.E226D
SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5567635	5568350	5568061	5568061	Missense_Mutation	T	G	p.Y218S
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5567635	5568350	5568064	5568064	Missense_Mutation	C	T	p.C217Y
OC316_OVARY	5567635	5568350	5568124	5568124	Missense_Mutation	C	T	p.G197D
OC314_OVARY	5567635	5568350	5568124	5568124	Missense_Mutation	C	T	p.G197D
HEC6_ENDOMETRIUM	5567635	5568350	5568128	5568128	Missense_Mutation	G	A	p.R196C
KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5567635	5568350	5568154	5568154	Missense_Mutation	T	A	p.D187V
SNU1040_LARGE_INTESTINE	5567635	5568350	5568155	5568155	Missense_Mutation	C	T	p.D187N
SW684_SOFT_TISSUE	5567635	5568350	5568179	5568179	Missense_Mutation	C	T	p.D179N
SNGM_ENDOMETRIUM	5567635	5568350	5568184	5568184	Missense_Mutation	C	T	p.R177H
HCT15_LARGE_INTESTINE	5567635	5568350	5568185	5568185	Missense_Mutation	G	A	p.R177C
CCK81_LARGE_INTESTINE	5567635	5568350	5568208	5568208	Missense_Mutation	T	C	p.Y169C
P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5567635	5568350	5568238	5568238	Missense_Mutation	A	G	p.V159A
BT474_BREAST	5567635	5568350	5568261	5568261	Missense_Mutation	G	C	p.I151M
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5567635	5568350	5568323	5568323	Missense_Mutation	C	A	p.A131S
NCIH661_LUNG	5567635	5568350	5568345	5568345	Missense_Mutation	C	A	p.M123I
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5568792	5569294	5568796	5568796	Missense_Mutation	G	A	p.T120I
UMUC3_URINARY_TRACT	5568792	5569294	5568804	5568804	Missense_Mutation	C	G	p.E117D
LOVO_LARGE_INTESTINE	5568792	5569294	5568949	5568949	Missense_Mutation	T	C	p.Y69C
UMUC6_URINARY_TRACT	5568792	5569294	5568970	5568970	Missense_Mutation	C	G	p.R62T
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5568792	5569294	5568975	5568975	Missense_Mutation	G	C	p.S60R
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5568792	5569294	5568976	5568976	Missense_Mutation	C	A	p.S60I
NCIH1781_LUNG	5568792	5569294	5568989	5568989	Missense_Mutation	C	G	p.D56H
253J_URINARY_TRACT	5568792	5569294	5568994	5568994	Missense_Mutation	A	C	p.V54G
253JBV_URINARY_TRACT	5568792	5569294	5568994	5568994	Missense_Mutation	A	C	p.V54G
MEWO_SKIN	5568792	5569294	5569210	5569210	Missense_Mutation	G	A	p.P27S
MEWO_SKIN	5569166	5569294	5569210	5569210	Missense_Mutation	G	A	p.P27S
MEWO_SKIN	5569166	5569364	5569210	5569210	Missense_Mutation	G	A	p.P27S
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5568792	5569294	5569210	5569210	Missense_Mutation	G	A	p.P27S
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5569166	5569294	5569210	5569210	Missense_Mutation	G	A	p.P27S
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5569166	5569364	5569210	5569210	Missense_Mutation	G	A	p.P27S
NCIH630_LARGE_INTESTINE	5568792	5569294	5569213	5569213	Missense_Mutation	C	T	p.A26T
NCIH630_LARGE_INTESTINE	5569166	5569294	5569213	5569213	Missense_Mutation	C	T	p.A26T
NCIH630_LARGE_INTESTINE	5569166	5569364	5569213	5569213	Missense_Mutation	C	T	p.A26T
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5568792	5569294	5569242	5569242	Missense_Mutation	A	C	p.M16R
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5569166	5569294	5569242	5569242	Missense_Mutation	A	C	p.M16R
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5569166	5569364	5569242	5569242	Missense_Mutation	A	C	p.M16R
NCIH1963_LUNG	5568792	5569294	5569254	5569254	Missense_Mutation	T	C	p.N12S
NCIH1963_LUNG	5569166	5569294	5569254	5569254	Missense_Mutation	T	C	p.N12S
NCIH1963_LUNG	5569166	5569364	5569254	5569254	Missense_Mutation	T	C	p.N12S
WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5568792	5569294	5569254	5569254	Missense_Mutation	T	C	p.N12S
WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5569166	5569294	5569254	5569254	Missense_Mutation	T	C	p.N12S
WIL2NS_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5569166	5569364	5569254	5569254	Missense_Mutation	T	C	p.N12S
UMUC14_URINARY_TRACT	5568792	5569294	5569258	5569258	Missense_Mutation	C	T	p.D11N
UMUC14_URINARY_TRACT	5569166	5569294	5569258	5569258	Missense_Mutation	C	T	p.D11N
UMUC14_URINARY_TRACT	5569166	5569364	5569258	5569258	Missense_Mutation	C	T	p.D11N
KLE_ENDOMETRIUM	5568792	5569294	5569269	5569269	Missense_Mutation	G	A	p.A7V
KLE_ENDOMETRIUM	5569166	5569294	5569269	5569269	Missense_Mutation	G	A	p.A7V
KLE_ENDOMETRIUM	5569166	5569364	5569269	5569269	Missense_Mutation	G	A	p.A7V
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5568792	5569294	5569280	5569280	Missense_Mutation	A	T	p.D3E
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5569166	5569294	5569280	5569280	Missense_Mutation	A	T	p.D3E
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5569166	5569364	5569280	5569280	Missense_Mutation	A	T	p.D3E
HEC59_ENDOMETRIUM	5568792	5569294	5569281	5569281	Missense_Mutation	T	C	p.D3G
HEC59_ENDOMETRIUM	5569166	5569294	5569281	5569281	Missense_Mutation	T	C	p.D3G
HEC59_ENDOMETRIUM	5569166	5569364	5569281	5569281	Missense_Mutation	T	C	p.D3G
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5568792	5569294	5569168	5569168	Nonsense_Mutation	G	A	p.Q41*
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5569166	5569294	5569168	5569168	Nonsense_Mutation	G	A	p.Q41*
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	5569166	5569364	5569168	5569168	Nonsense_Mutation	G	A	p.Q41*
SW982_SOFT_TISSUE	5568792	5569294	5569167	5569167	Splice_Site	T	C	p.Q41R
SW982_SOFT_TISSUE	5569166	5569294	5569167	5569167	Splice_Site	T	C	p.Q41R
SW982_SOFT_TISSUE	5569166	5569364	5569167	5569167	Splice_Site	T	C	p.Q41R

Top

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

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 ACTB

Top

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

Top

RelatedDrugs for ACTB

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

Top

RelatedDiseases for ACTB

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ACTB	C2239176	Liver carcinoma	2	CTD_human
ACTB	C0005586	Bipolar Disorder	1	PSYGENET
ACTB	C0009363	Congenital ocular coloboma (disorder)	1	CTD_human
ACTB	C0013393	Dysostoses	1	CTD_human
ACTB	C0013421	Dystonia	1	CTD_human
ACTB	C0014859	Esophageal Neoplasms	1	CTD_human
ACTB	C0018784	Sensorineural Hearing Loss (disorder)	1	CTD_human;HPO
ACTB	C0024121	Lung Neoplasms	1	CTD_human
ACTB	C0024667	Animal Mammary Neoplasms	1	CTD_human
ACTB	C0024668	Mammary Neoplasms, Experimental	1	CTD_human
ACTB	C0027626	Neoplasm Invasiveness	1	CTD_human
ACTB	C0029408	Degenerative polyarthritis	1	CTD_human
ACTB	C0036341	Schizophrenia	1	PSYGENET
ACTB	C0151744	Myocardial Ischemia	1	CTD_human
ACTB	C0242184	Hypoxia	1	CTD_human
ACTB	C0376634	Craniofacial Abnormalities	1	CTD_human
ACTB	C0497552	Congenital neurologic anomalies	1	CTD_human
ACTB	C1846331	Juvenile-onset dystonia	1	CTD_human;ORPHANET;UNIPROT
ACTB	C1855722	Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation	1	ORPHANET;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

Home

Download

Statistics

Landscape

Help

Contact

Gene summary for ACTB

Exon skipping events across known transcript of Ensembl for ACTB from UCSC genome browser

Gene isoform structures and expression levels for ACTB

Exon skipping events with PSIs in TCGA for ACTB

Exon skipping events with PSIs in GTEx for ACTB

Open reading frame (ORF) annotation in the exon skipping event for ACTB

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

SNVs in the skipped exons for ACTB

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

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ACTB

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

RelatedDrugs for ACTB

RelatedDiseases for ACTB