ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for SPTBN5

Gene summary

Gene information	Gene symbol	SPTBN5
	Gene ID	51332
	Gene name	spectrin beta, non-erythrocytic 5
	Synonyms	BSPECV\|HUBSPECV\|HUSPECV
	Cytomap	15q15.1
	Type of gene	protein-coding
	Description	spectrin beta chain, non-erythrocytic 5beta V spectrinspectrin beta chain, brain 4spectrin, non-erythroid beta chain 4
	Modification date	20180523
	UniProtAcc	Q9NRC6
	Context	PubMed: SPTBN5 [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
SPTBN5	GO:0051260	protein homooligomerization	23704327

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Exon skipping events across known transcript of Ensembl for SPTBN5 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 SPTBN5

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 SPTBN5

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_126252	15	42142066:42142157:42143051:42143137:42143256:42143348	42143051:42143137	ENSG00000137877.8	ENST00000320955.6
exon_skip_126254	15	42143976:42144048:42144379:42144514:42144831:42144933	42144379:42144514	ENSG00000137877.8	ENST00000320955.6
exon_skip_126256	15	42145455:42145645:42145779:42145985:42146247:42146403	42145779:42145985	ENSG00000137877.8	ENST00000320955.6
exon_skip_126258	15	42151087:42151178:42152783:42152956:42153616:42153694	42152783:42152956	ENSG00000137877.8	ENST00000320955.6
exon_skip_126259	15	42153616:42153694:42153932:42154121:42154327:42154490	42153932:42154121	ENSG00000137877.8	ENST00000320955.6
exon_skip_126261	15	42154327:42154490:42154736:42154858:42154987:42155101	42154736:42154858	ENSG00000137877.8	ENST00000320955.6
exon_skip_126263	15	42160266:42160416:42160595:42160799:42162038:42162218	42160595:42160799	ENSG00000137877.8	ENST00000320955.6
exon_skip_126264	15	42162440:42162551:42162643:42162758:42163572:42163718	42162643:42162758	ENSG00000137877.8	ENST00000320955.6
exon_skip_126265	15	42165689:42165806:42166042:42166243:42166489:42166676	42166042:42166243	ENSG00000137877.8	ENST00000320955.6
exon_skip_126266	15	42169006:42169146:42169313:42169554:42170539:42170827	42169313:42169554	ENSG00000137877.8	ENST00000320955.6
exon_skip_126267	15	42171457:42171697:42171931:42172062:42172357:42172510	42171931:42172062	ENSG00000137877.8	ENST00000320955.6
exon_skip_126270	15	42171931:42172062:42172357:42172510:42173231:42173432	42172357:42172510	ENSG00000137877.8	ENST00000320955.6
exon_skip_126272	15	42179410:42179639:42180125:42180283:42182286:42182403	42180125:42180283	ENSG00000137877.8	ENST00000320955.6

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for SPTBN5

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_126252	15	42142066:42142157:42143051:42143137:42143256:42143348	42143051:42143137	ENSG00000137877.8	ENST00000320955.6
exon_skip_126254	15	42143976:42144048:42144379:42144514:42144831:42144933	42144379:42144514	ENSG00000137877.8	ENST00000320955.6
exon_skip_126256	15	42145455:42145645:42145779:42145985:42146247:42146403	42145779:42145985	ENSG00000137877.8	ENST00000320955.6
exon_skip_126258	15	42151087:42151178:42152783:42152956:42153616:42153694	42152783:42152956	ENSG00000137877.8	ENST00000320955.6
exon_skip_126259	15	42153616:42153694:42153932:42154121:42154327:42154490	42153932:42154121	ENSG00000137877.8	ENST00000320955.6
exon_skip_126261	15	42154327:42154490:42154736:42154858:42154987:42155101	42154736:42154858	ENSG00000137877.8	ENST00000320955.6
exon_skip_126263	15	42160266:42160416:42160595:42160799:42162038:42162218	42160595:42160799	ENSG00000137877.8	ENST00000320955.6
exon_skip_126264	15	42162440:42162551:42162643:42162758:42163572:42163718	42162643:42162758	ENSG00000137877.8	ENST00000320955.6
exon_skip_126265	15	42165689:42165806:42166042:42166243:42166489:42166676	42166042:42166243	ENSG00000137877.8	ENST00000320955.6
exon_skip_126266	15	42169006:42169146:42169313:42169554:42170539:42170827	42169313:42169554	ENSG00000137877.8	ENST00000320955.6
exon_skip_126267	15	42171457:42171697:42171931:42172062:42172357:42172510	42171931:42172062	ENSG00000137877.8	ENST00000320955.6
exon_skip_126270	15	42171931:42172062:42172357:42172510:42173231:42173432	42172357:42172510	ENSG00000137877.8	ENST00000320955.6
exon_skip_126272	15	42179410:42179639:42180125:42180283:42182286:42182403	42180125:42180283	ENSG00000137877.8	ENST00000320955.6

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 SPTBN5

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
ENST00000320955	42143051	42143137	Frame-shift
ENST00000320955	42145779	42145985	Frame-shift
ENST00000320955	42152783	42152956	Frame-shift
ENST00000320955	42154736	42154858	Frame-shift
ENST00000320955	42162643	42162758	Frame-shift
ENST00000320955	42169313	42169554	Frame-shift
ENST00000320955	42171931	42172062	Frame-shift
ENST00000320955	42180125	42180283	Frame-shift
ENST00000320955	42144379	42144514	In-frame
ENST00000320955	42153932	42154121	In-frame
ENST00000320955	42160595	42160799	In-frame
ENST00000320955	42166042	42166243	In-frame
ENST00000320955	42172357	42172510	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
ENST00000320955	42143051	42143137	Frame-shift
ENST00000320955	42145779	42145985	Frame-shift
ENST00000320955	42152783	42152956	Frame-shift
ENST00000320955	42154736	42154858	Frame-shift
ENST00000320955	42162643	42162758	Frame-shift
ENST00000320955	42169313	42169554	Frame-shift
ENST00000320955	42171931	42172062	Frame-shift
ENST00000320955	42180125	42180283	Frame-shift
ENST00000320955	42144379	42144514	In-frame
ENST00000320955	42153932	42154121	In-frame
ENST00000320955	42160595	42160799	In-frame
ENST00000320955	42166042	42166243	In-frame
ENST00000320955	42172357	42172510	In-frame

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Infer the effects of exon skipping event on protein functional features for SPTBN5

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
ENST00000320955	11739	3674	42172357	42172510	2887	3039	886	937
ENST00000320955	11739	3674	42166042	42166243	4918	5118	1563	1630
ENST00000320955	11739	3674	42160595	42160799	6082	6285	1951	2019
ENST00000320955	11739	3674	42153932	42154121	7777	7965	2516	2579
ENST00000320955	11739	3674	42144379	42144514	10678	10812	3483	3528

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
ENST00000320955	11739	3674	42172357	42172510	2887	3039	886	937
ENST00000320955	11739	3674	42166042	42166243	4918	5118	1563	1630
ENST00000320955	11739	3674	42160595	42160799	6082	6285	1951	2019
ENST00000320955	11739	3674	42153932	42154121	7777	7965	2516	2579
ENST00000320955	11739	3674	42144379	42144514	10678	10812	3483	3528

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
Q9NRC6	886	937	1	3674	Chain	ID=PRO_0000073466;Note=Spectrin beta chain%2C non-erythrocytic 5
Q9NRC6	886	937	900	996	Repeat	Note=Spectrin 5;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRC6	1563	1630	1	3674	Chain	ID=PRO_0000073466;Note=Spectrin beta chain%2C non-erythrocytic 5
Q9NRC6	1563	1630	1521	1624	Repeat	Note=Spectrin 9;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRC6	1563	1630	1628	1727	Repeat	Note=Spectrin 10;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRC6	1951	2019	1	3674	Chain	ID=PRO_0000073466;Note=Spectrin beta chain%2C non-erythrocytic 5
Q9NRC6	1951	2019	1944	2046	Repeat	Note=Spectrin 13;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRC6	2516	2579	1	3674	Chain	ID=PRO_0000073466;Note=Spectrin beta chain%2C non-erythrocytic 5
Q9NRC6	2516	2579	2471	2574	Repeat	Note=Spectrin 18;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRC6	2516	2579	2577	2680	Repeat	Note=Spectrin 19;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRC6	3483	3528	1	3674	Chain	ID=PRO_0000073466;Note=Spectrin beta chain%2C non-erythrocytic 5
Q9NRC6	3483	3528	3422	3488	Repeat	Note=Spectrin 27;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
Q9NRC6	886	937	1	3674	Chain	ID=PRO_0000073466;Note=Spectrin beta chain%2C non-erythrocytic 5
Q9NRC6	886	937	900	996	Repeat	Note=Spectrin 5;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRC6	1563	1630	1	3674	Chain	ID=PRO_0000073466;Note=Spectrin beta chain%2C non-erythrocytic 5
Q9NRC6	1563	1630	1521	1624	Repeat	Note=Spectrin 9;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRC6	1563	1630	1628	1727	Repeat	Note=Spectrin 10;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRC6	1951	2019	1	3674	Chain	ID=PRO_0000073466;Note=Spectrin beta chain%2C non-erythrocytic 5
Q9NRC6	1951	2019	1944	2046	Repeat	Note=Spectrin 13;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRC6	2516	2579	1	3674	Chain	ID=PRO_0000073466;Note=Spectrin beta chain%2C non-erythrocytic 5
Q9NRC6	2516	2579	2471	2574	Repeat	Note=Spectrin 18;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRC6	2516	2579	2577	2680	Repeat	Note=Spectrin 19;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NRC6	3483	3528	1	3674	Chain	ID=PRO_0000073466;Note=Spectrin beta chain%2C non-erythrocytic 5
Q9NRC6	3483	3528	3422	3488	Repeat	Note=Spectrin 27;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for SPTBN5

- 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_126258	42152784	42152956	42152848	42152848	Frame_Shift_Del	G	-	p.L2642fs
LIHC	TCGA-BC-A3KG-01	exon_skip_126263	42160596	42160799	42160734	42160734	Frame_Shift_Del	T	-	p.Q1973fs
LIHC	TCGA-DD-A1EG-01	exon_skip_126266	42169314	42169554	42169520	42169520	Frame_Shift_Del	C	-	p.A1170fs
DLBC	TCGA-GS-A9TQ-01	exon_skip_126270	42172358	42172510	42172481	42172482	Frame_Shift_Ins	-	ATGG	p.M861fs
KIRP	TCGA-IZ-A6M9-01	exon_skip_126252	42143052	42143137	42143073	42143073	Nonsense_Mutation	G	A	p.R3599*
SKCM	TCGA-EB-A3Y6-01	exon_skip_126263	42160596	42160799	42160643	42160643	Nonsense_Mutation	G	A	p.Q2004*
STAD	TCGA-BR-4370-01	exon_skip_126263	42160596	42160799	42160736	42160736	Nonsense_Mutation	G	A	p.Q1938*
PRAD	TCGA-EJ-7785-01	exon_skip_126264	42162644	42162758	42162706	42162706	Nonsense_Mutation	G	A	p.R1799X
PRAD	TCGA-EJ-7785-01	exon_skip_126264	42162644	42162758	42162706	42162706	Nonsense_Mutation	G	A	p.R1834*
LUAD	TCGA-55-7284-01	exon_skip_126266	42169314	42169554	42169382	42169382	Nonsense_Mutation	G	A	p.R1215*
SKCM	TCGA-GF-A3OT-06	exon_skip_126267	42171932	42172062	42172063	42172063	Splice_Site	C	T	.

- 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
RKO_LARGE_INTESTINE	42166043	42166243	42166156	42166156	Frame_Shift_Del	G	-	p.Q1593fs
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42169314	42169554	42169482	42169483	Frame_Shift_Ins	-	T	p.N1181fs
HEC251_ENDOMETRIUM	42143052	42143137	42143119	42143119	Missense_Mutation	C	A	p.E3618D
AGS_STOMACH	42143052	42143137	42143130	42143130	Missense_Mutation	T	C	p.S3615G
LB373EBV_MATCHED_NORMAL_TISSUE	42144380	42144514	42144423	42144423	Missense_Mutation	T	C	p.H3514R
LB373MELD_SKIN	42144380	42144514	42144423	42144423	Missense_Mutation	T	C	p.H3514R
CW2_LARGE_INTESTINE	42144380	42144514	42144472	42144472	Missense_Mutation	C	T	p.G3498R
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42145780	42145985	42145843	42145843	Missense_Mutation	C	T	p.R3306Q
KP3_PANCREAS	42145780	42145985	42145967	42145967	Missense_Mutation	C	G	p.E3265Q
SNU407_LARGE_INTESTINE	42152784	42152956	42152874	42152874	Missense_Mutation	C	T	p.S2633N
MCC13_SKIN	42152784	42152956	42152952	42152953	Missense_Mutation	GG	AA	p.P2607F
MCC13_SKIN	42152784	42152956	42152952	42152952	Missense_Mutation	G	A	p.P2607L
MCC13_SKIN	42152784	42152956	42152953	42152953	Missense_Mutation	G	A	p.P2607S
MFE319_ENDOMETRIUM	42153933	42154121	42154024	42154024	Missense_Mutation	T	C	p.Q2549R
SAS_UPPER_AERODIGESTIVE_TRACT	42154737	42154858	42154774	42154774	Missense_Mutation	C	T	p.E2450K
HCT15_LARGE_INTESTINE	42154737	42154858	42154776	42154776	Missense_Mutation	G	T	p.A2449D
SKMEL2_SKIN	42154737	42154858	42154784	42154784	Missense_Mutation	C	A	p.Q2446H
RKO_LARGE_INTESTINE	42154737	42154858	42154797	42154797	Missense_Mutation	C	A	p.R2442M
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	42154737	42154858	42154849	42154849	Missense_Mutation	G	A	p.R2425C
HUO3N1_BONE	42160596	42160799	42160717	42160717	Missense_Mutation	G	T	p.P1979Q
8305C_THYROID	42162644	42162758	42162674	42162674	Missense_Mutation	T	G	p.R1844S
REC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42166043	42166243	42166093	42166093	Missense_Mutation	C	T	p.A1614T
LB831BLC_URINARY_TRACT	42166043	42166243	42166186	42166186	Missense_Mutation	C	A	p.G1583W
EW13_BONE	42166043	42166243	42166206	42166206	Missense_Mutation	A	C	p.V1576G
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42169314	42169554	42169378	42169378	Missense_Mutation	T	C	p.E1216G
EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42171932	42172062	42171999	42171999	Missense_Mutation	G	T	p.Q959K
PSN1_PANCREAS	42171932	42172062	42172041	42172041	Missense_Mutation	C	T	p.V945M
MEWO_SKIN	42172358	42172510	42172450	42172451	Missense_Mutation	CC	TT	p.E907K
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42172358	42172510	42172506	42172506	Missense_Mutation	C	T	p.R888H
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	42180126	42180283	42180174	42180174	Missense_Mutation	C	T	p.R204Q
MEWO_SKIN	42180126	42180283	42180177	42180177	Missense_Mutation	G	A	p.S203F
ZR7530_BREAST	42144380	42144514	42144397	42144397	Nonsense_Mutation	C	A	p.E3523*
RH28_SOFT_TISSUE	42144380	42144514	42144442	42144442	Nonsense_Mutation	G	A	p.Q3508*
NCIH226_LUNG	42145780	42145985	42145844	42145844	Nonsense_Mutation	G	A	p.R3306*
HEC1A_ENDOMETRIUM	42153933	42154121	42154067	42154067	Nonsense_Mutation	G	A	p.Q2535*
HCC515_LUNG	42160596	42160799	42160763	42160763	Nonsense_Mutation	G	A	p.Q1964*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SPTBN5

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 SPTBN5

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SPTBN5

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RelatedDrugs for SPTBN5

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 SPTBN5

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	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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