ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for AKAP12

Gene summary

Gene information	Gene symbol	AKAP12
	Gene ID	9590
	Gene name	A-kinase anchoring protein 12
	Synonyms	AKAP250\|SSeCKS
	Cytomap	6q25.1
	Type of gene	protein-coding
	Description	A-kinase anchor protein 12A kinase (PRKA) anchor protein 12A-kinase anchor protein, 250kDaAKAP 250Src-Suppressed C Kinase Substratekinase scaffold protein gravinmyasthenia gravis autoantigen gravin
	Modification date	20180519
	UniProtAcc	Q02952
	Context	PubMed: AKAP12 [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 AKAP12 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 AKAP12

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 AKAP12

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_454847	6	151626881:151627038:151669845:151674887:151676861:151677908	151669845:151674887	ENSG00000131016.12	ENST00000253332.1,ENST00000402676.2
exon_skip_454848	6	151646822:151647020:151669845:151674887:151676861:151677908	151669845:151674887	ENSG00000131016.12	ENST00000354675.6

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for AKAP12

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_454847	6	151626881:151627038:151669845:151674887:151676861:151677908	151669845:151674887	ENSG00000131016.12	ENST00000402676.2,ENST00000253332.1
exon_skip_454848	6	151646822:151647020:151669845:151674887:151676861:151677908	151669845:151674887	ENSG00000131016.12	ENST00000354675.6

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 AKAP12

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
ENST00000253332	151669845	151674887	3UTR-3CDS
ENST00000402676	151669845	151674887	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
ENST00000253332	151669845	151674887	3UTR-3CDS
ENST00000402676	151669845	151674887	3UTR-3CDS

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Infer the effects of exon skipping event on protein functional features for AKAP12

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

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SNVs in the skipped exons for AKAP12

- 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
KIRC	TCGA-CZ-4865-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151670340	151670340	Frame_Shift_Del	A	-	p.E271fs
LIHC	TCGA-DD-A39Y-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151670415	151670415	Frame_Shift_Del	A	-	p.K298fs
LIHC	TCGA-DD-A39Y-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151671638	151671638	Frame_Shift_Del	A	-	p.P704fs
KIRP	TCGA-MH-A55W-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151671659	151671659	Frame_Shift_Del	C	-	p.H613fs
KIRP	TCGA-MH-A55W-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151671659	151671659	Frame_Shift_Del	C	-	p.H711fs
ACC	TCGA-OR-A5J5-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151672365	151672365	Frame_Shift_Del	C	-	p.E848fs
ACC	TCGA-OR-A5J5-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151672365	151672365	Frame_Shift_Del	C	-	p.E946fs
ACC	TCGA-OR-A5J5-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151672365	151672365	Frame_Shift_Del	C	-	p.P948fs
STAD	TCGA-CD-A4MI-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151672365	151672365	Frame_Shift_Del	C	-	p.E946fs
STAD	TCGA-CD-A4MJ-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151672365	151672365	Frame_Shift_Del	C	-	p.E946fs
COAD	TCGA-AD-6964-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151673000	151673000	Frame_Shift_Del	C	-	p.I1060fs
COAD	TCGA-CM-4743-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151673000	151673000	Frame_Shift_Del	C	-	p.I1060fs
SKCM	TCGA-EE-A3JI-06	exon_skip_454848 exon_skip_454847	151669846	151674887	151673453	151673454	Frame_Shift_Del	AG	-	p.1211_1211del
SKCM	TCGA-EE-A3JI-06	exon_skip_454848 exon_skip_454847	151669846	151674887	151673453	151673454	Frame_Shift_Del	AG	-	p.TE1309fs
ESCA	TCGA-LN-A9FQ-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151673526	151673527	Frame_Shift_Del	GA	-	p.E1336fs
BRCA	TCGA-A8-A0A1-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151673850	151673850	Frame_Shift_Del	G	-	p.E1442fs
COAD	TCGA-CM-6171-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151673902	151673902	Frame_Shift_Del	A	-	p.E1361fs
SARC	TCGA-QQ-A8VF-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151673902	151673902	Frame_Shift_Del	A	-	p.E1459fs
LIHC	TCGA-DD-A39Y-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151674622	151674622	Frame_Shift_Del	A	-	p.E1699fs
LIHC	TCGA-DD-A39Y-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151674773	151674773	Frame_Shift_Del	A	-	p.G1749fs
UCS	TCGA-NF-A4X2-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151670243	151670244	Frame_Shift_Ins	-	T	p.P239fs
UCS	TCGA-NF-A4X2-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151670243	151670244	Frame_Shift_Ins	-	T	p.R240fs
STAD	TCGA-BR-4362-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151670523	151670524	Frame_Shift_Ins	-	A	p.E333fs
STAD	TCGA-BR-4362-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151670524	151670525	Frame_Shift_Ins	-	A	p.E333fs
UCEC	TCGA-AP-A05H-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151670999	151671000	Frame_Shift_Ins	-	C	p.K491fs
STAD	TCGA-CG-5721-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151672364	151672365	Frame_Shift_Ins	-	C	p.E946fs
STAD	TCGA-CG-5721-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151672365	151672366	Frame_Shift_Ins	-	C	p.E946fs
UCEC	TCGA-D1-A17H-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151672944	151672945	Frame_Shift_Ins	-	A	p.A1141fs
UCEC	TCGA-D1-A17H-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151672944	151672945	Frame_Shift_Ins	-	A	p.Q1140fs
STAD	TCGA-HU-A4GQ-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151672999	151673000	Frame_Shift_Ins	-	C	p.I1158fs
STAD	TCGA-HU-A4GQ-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151673000	151673001	Frame_Shift_Ins	-	C	p.I1158fs
UCEC	TCGA-BG-A18B-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151673901	151673902	Frame_Shift_Ins	-	A	p.E1459fs
UCEC	TCGA-AP-A0LH-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151674719	151674720	Frame_Shift_Ins	-	G	p.N1731fs
PAAD	TCGA-IB-A7LX-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151669965	151669965	Nonsense_Mutation	G	T	p.E147X
COAD	TCGA-F4-6703-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151670304	151670304	Nonsense_Mutation	C	T	p.Q260X
UCEC	TCGA-D1-A17Q-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151670334	151670334	Nonsense_Mutation	G	T	p.E270*
UCEC	TCGA-D1-A16X-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151670763	151670763	Nonsense_Mutation	G	T	p.E413*
LIHC	TCGA-DD-A118-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151670985	151670985	Nonsense_Mutation	A	T	p.K487*
LIHC	TCGA-DD-A118-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151670985	151670985	Nonsense_Mutation	A	T	p.K487X
LUSC	TCGA-37-3789-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151671465	151671465	Nonsense_Mutation	G	T	p.E647*
UCS	TCGA-ND-A4WC-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151671492	151671492	Nonsense_Mutation	G	T	p.E656*
UCS	TCGA-ND-A4WC-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151671492	151671492	Nonsense_Mutation	G	T	p.E656X
UCEC	TCGA-B5-A0JY-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151671528	151671528	Nonsense_Mutation	G	T	p.E668*
COAD	TCGA-AZ-4315-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151671726	151671726	Nonsense_Mutation	G	T	p.E734X
STAD	TCGA-BR-8291-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151671966	151671966	Nonsense_Mutation	C	T	p.R814*
COAD	TCGA-CM-5862-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151672777	151672777	Nonsense_Mutation	C	A	p.S1084X
ESCA	TCGA-LN-A7HX-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151672917	151672917	Nonsense_Mutation	G	T	p.E1131*
ESCA	TCGA-LN-A7HX-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151672917	151672917	Nonsense_Mutation	G	T	p.E1131X
UCEC	TCGA-AP-A059-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151673181	151673181	Nonsense_Mutation	G	T	p.E1219*
UCEC	TCGA-AP-A0LM-01	exon_skip_454848 exon_skip_454847	151669846	151674887	151673457	151673457	Nonsense_Mutation	G	T	p.E1311*

- 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
C33A_CERVIX	151669846	151674887	151670143	151670146	Frame_Shift_Del	GGGA	-	p.GE206fs
IGROV1_OVARY	151669846	151674887	151670524	151670524	Frame_Shift_Del	A	-	p.E333fs
SNUC2A_LARGE_INTESTINE	151669846	151674887	151671000	151671000	Frame_Shift_Del	C	-	p.P493fs
SNUC2B_LARGE_INTESTINE	151669846	151674887	151671000	151671000	Frame_Shift_Del	C	-	p.P493fs
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151669846	151674887	151671330	151671330	Frame_Shift_Del	A	-	p.K603fs
HEC108_ENDOMETRIUM	151669846	151674887	151671833	151671833	Frame_Shift_Del	A	-	p.R769fs
2313287_STOMACH	151669846	151674887	151672003	151672003	Frame_Shift_Del	C	-	p.A826fs
EN_ENDOMETRIUM	151669846	151674887	151673735	151673735	Frame_Shift_Del	G	-	p.E1404fs
A2780_OVARY	151669846	151674887	151672122	151672123	Frame_Shift_Ins	-	A	p.Q866fs
IGR1_SKIN	151669846	151674887	151672122	151672123	Frame_Shift_Ins	-	A	p.Q866fs
NCIH1355_LUNG	151669846	151674887	151672122	151672123	Frame_Shift_Ins	-	A	p.Q866fs
DU145_PROSTATE	151669846	151674887	151672999	151673000	Frame_Shift_Ins	-	C	p.IP1158fs
RKO_LARGE_INTESTINE	151669846	151674887	151673144	151673145	Frame_Shift_Ins	-	G	p.G1207fs
SKUT1_SOFT_TISSUE	151669846	151674887	151671303	151671305	In_Frame_Del	GAA	-	p.E594del
LCLC97TM1_LUNG	151669846	151674887	151669889	151669889	Missense_Mutation	T	G	p.D121E
SNU46_UPPER_AERODIGESTIVE_TRACT	151669846	151674887	151669918	151669918	Missense_Mutation	T	A	p.V131D
MEWO_SKIN	151669846	151674887	151669944	151669944	Missense_Mutation	G	A	p.E140K
HEC251_ENDOMETRIUM	151669846	151674887	151669965	151669965	Missense_Mutation	G	A	p.E147K
RCCAB_KIDNEY	151669846	151674887	151670113	151670113	Missense_Mutation	T	A	p.V196D
HCC2998_LARGE_INTESTINE	151669846	151674887	151670136	151670136	Missense_Mutation	G	T	p.D204Y
ML1_THYROID	151669846	151674887	151670188	151670188	Missense_Mutation	G	A	p.G221E
SNU81_LARGE_INTESTINE	151669846	151674887	151670217	151670217	Missense_Mutation	G	A	p.E231K
DU145_PROSTATE	151669846	151674887	151670220	151670220	Missense_Mutation	C	T	p.P232S
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151669846	151674887	151670274	151670274	Missense_Mutation	G	A	p.A250T
SNU1_STOMACH	151669846	151674887	151670425	151670425	Missense_Mutation	T	C	p.F300S
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151669846	151674887	151670448	151670448	Missense_Mutation	C	T	p.R308C
KYSE410_OESOPHAGUS	151669846	151674887	151670538	151670538	Missense_Mutation	G	A	p.E338K
MFE319_ENDOMETRIUM	151669846	151674887	151670563	151670563	Missense_Mutation	C	T	p.A346V
SNU175_LARGE_INTESTINE	151669846	151674887	151670580	151670580	Missense_Mutation	G	A	p.A352T
JHUEM1_ENDOMETRIUM	151669846	151674887	151670700	151670700	Missense_Mutation	T	C	p.S392P
HCC2998_LARGE_INTESTINE	151669846	151674887	151670709	151670709	Missense_Mutation	A	G	p.K395E
WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151669846	151674887	151670753	151670753	Missense_Mutation	A	T	p.E409D
HCC2450_LUNG	151669846	151674887	151670763	151670763	Missense_Mutation	G	C	p.E413Q
LS411N_LARGE_INTESTINE	151669846	151674887	151670824	151670824	Missense_Mutation	C	T	p.T433M
HEC151_ENDOMETRIUM	151669846	151674887	151670932	151670932	Missense_Mutation	C	T	p.T469M
KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151669846	151674887	151670986	151670986	Missense_Mutation	A	T	p.K487M
CAL148_BREAST	151669846	151674887	151671006	151671006	Missense_Mutation	G	A	p.E494K
HT115_LARGE_INTESTINE	151669846	151674887	151671125	151671125	Missense_Mutation	G	T	p.Q533H
HEC251_ENDOMETRIUM	151669846	151674887	151671136	151671136	Missense_Mutation	G	T	p.R537I
2313287_STOMACH	151669846	151674887	151671172	151671172	Missense_Mutation	A	G	p.Q549R
JHUEM7_ENDOMETRIUM	151669846	151674887	151671187	151671187	Missense_Mutation	C	T	p.S554F
UBLC1_URINARY_TRACT	151669846	151674887	151671229	151671229	Missense_Mutation	C	T	p.S568L
SW1271_LUNG	151669846	151674887	151671277	151671277	Missense_Mutation	C	A	p.A584D
MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151669846	151674887	151671306	151671306	Missense_Mutation	G	A	p.E594K
HCET_UPPER_AERODIGESTIVE_TRACT	151669846	151674887	151671323	151671323	Missense_Mutation	T	A	p.D599E
PECAPJ49_UPPER_AERODIGESTIVE_TRACT	151669846	151674887	151671351	151671351	Missense_Mutation	C	T	p.P609S
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151669846	151674887	151671400	151671400	Missense_Mutation	G	A	p.R625Q
LS411N_LARGE_INTESTINE	151669846	151674887	151671507	151671507	Missense_Mutation	G	A	p.V661M
CW2_LARGE_INTESTINE	151669846	151674887	151671541	151671541	Missense_Mutation	A	G	p.K672R
SNGM_ENDOMETRIUM	151669846	151674887	151671609	151671609	Missense_Mutation	G	T	p.G695W
SAT_UPPER_AERODIGESTIVE_TRACT	151669846	151674887	151671674	151671674	Missense_Mutation	G	T	p.E716D
HEC251_ENDOMETRIUM	151669846	151674887	151671735	151671735	Missense_Mutation	C	A	p.P737T
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151669846	151674887	151671867	151671867	Missense_Mutation	G	A	p.E781K
SKMEL24_SKIN	151669846	151674887	151671955	151671955	Missense_Mutation	T	G	p.F810C
GMS10_CENTRAL_NERVOUS_SYSTEM	151669846	151674887	151671955	151671955	Missense_Mutation	T	G	p.F810C
RKO_LARGE_INTESTINE	151669846	151674887	151671981	151671981	Missense_Mutation	C	T	p.P819S
NCIH2141_LUNG	151669846	151674887	151672017	151672017	Missense_Mutation	G	T	p.A831S
LN464_CENTRAL_NERVOUS_SYSTEM	151669846	151674887	151672048	151672048	Missense_Mutation	C	T	p.S841F
ACN_AUTONOMIC_GANGLIA	151669846	151674887	151672048	151672048	Missense_Mutation	C	T	p.S841F
LN18_CENTRAL_NERVOUS_SYSTEM	151669846	151674887	151672062	151672062	Missense_Mutation	G	A	p.V846M
HS840T_FIBROBLAST	151669846	151674887	151672069	151672069	Missense_Mutation	C	T	p.P848L
CW2_LARGE_INTESTINE	151669846	151674887	151672096	151672096	Missense_Mutation	G	T	p.R857M
NCIH23_LUNG	151669846	151674887	151672117	151672117	Missense_Mutation	A	T	p.Q864L
JHH6_LIVER	151669846	151674887	151672140	151672140	Missense_Mutation	C	T	p.P872S
201T_LUNG	151669846	151674887	151672140	151672140	Missense_Mutation	C	A	p.P872T
A427_LUNG	151669846	151674887	151672143	151672143	Missense_Mutation	G	A	p.E873K
KMH2_THYROID	151669846	151674887	151672194	151672194	Missense_Mutation	C	T	p.H890Y
HEC251_ENDOMETRIUM	151669846	151674887	151672265	151672265	Missense_Mutation	G	T	p.W913C
HS683_CENTRAL_NERVOUS_SYSTEM	151669846	151674887	151672407	151672407	Missense_Mutation	C	T	p.R961W
HS934T_FIBROBLAST	151669846	151674887	151672411	151672411	Missense_Mutation	G	A	p.G962D
CHLA15_AUTONOMIC_GANGLIA	151669846	151674887	151672471	151672471	Missense_Mutation	C	T	p.A982V
HDLM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151669846	151674887	151672488	151672488	Missense_Mutation	G	A	p.E988K
BB30PBL_MATCHED_NORMAL_TISSUE	151669846	151674887	151672519	151672519	Missense_Mutation	A	G	p.E998G
MZ7MEL_SKIN	151669846	151674887	151672642	151672642	Missense_Mutation	C	T	p.T1039I
RCCJF_KIDNEY	151669846	151674887	151672740	151672740	Missense_Mutation	G	C	p.A1072P
HCC78_LUNG	151669846	151674887	151672749	151672749	Missense_Mutation	G	C	p.E1075Q
SNU1040_LARGE_INTESTINE	151669846	151674887	151672759	151672759	Missense_Mutation	A	G	p.E1078G
KM12_LARGE_INTESTINE	151669846	151674887	151672912	151672912	Missense_Mutation	G	A	p.S1129N
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151669846	151674887	151672965	151672965	Missense_Mutation	G	A	p.V1147I
NCIH650_LUNG	151669846	151674887	151673001	151673001	Missense_Mutation	C	A	p.P1159T
HCC366_LUNG	151669846	151674887	151673028	151673028	Missense_Mutation	G	A	p.D1168N
PACADD119_PANCREAS	151669846	151674887	151673031	151673031	Missense_Mutation	A	G	p.S1169G
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151669846	151674887	151673055	151673055	Missense_Mutation	G	A	p.V1177I
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151669846	151674887	151673061	151673061	Missense_Mutation	G	A	p.D1179N
MDAMB330_BREAST	151669846	151674887	151673127	151673127	Missense_Mutation	G	A	p.A1201T
HEC1B_ENDOMETRIUM	151669846	151674887	151673149	151673149	Missense_Mutation	G	A	p.G1208D
SNU175_LARGE_INTESTINE	151669846	151674887	151673358	151673358	Missense_Mutation	G	A	p.V1278I
HEC6_ENDOMETRIUM	151669846	151674887	151673385	151673385	Missense_Mutation	T	C	p.S1287P
NCIH1770_LUNG	151669846	151674887	151673495	151673495	Missense_Mutation	G	T	p.Q1323H
NCIH2106_LUNG	151669846	151674887	151673495	151673495	Missense_Mutation	G	T	p.Q1323H
SNU1040_LARGE_INTESTINE	151669846	151674887	151673502	151673502	Missense_Mutation	G	A	p.A1326T
LS123_LARGE_INTESTINE	151669846	151674887	151673580	151673580	Missense_Mutation	C	T	p.H1352Y
NCIH2286_LUNG	151669846	151674887	151673604	151673604	Missense_Mutation	C	T	p.H1360Y
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151669846	151674887	151673915	151673915	Missense_Mutation	C	A	p.D1463E
MEWO_SKIN	151669846	151674887	151674019	151674019	Missense_Mutation	C	T	p.S1498F
NCIH23_LUNG	151669846	151674887	151674132	151674132	Missense_Mutation	G	C	p.E1536Q
NCIH2722_PLEURA	151669846	151674887	151674153	151674153	Missense_Mutation	G	C	p.E1543Q
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	151669846	151674887	151674228	151674228	Missense_Mutation	G	A	p.A1568T
NCIH23_LUNG	151669846	151674887	151674282	151674282	Missense_Mutation	G	A	p.D1586N
LN340_CENTRAL_NERVOUS_SYSTEM	151669846	151674887	151674309	151674309	Missense_Mutation	G	A	p.E1595K
HT115_LARGE_INTESTINE	151669846	151674887	151674390	151674390	Missense_Mutation	G	A	p.A1622T
CL11_LARGE_INTESTINE	151669846	151674887	151674406	151674406	Missense_Mutation	A	G	p.H1627R
HEC6_ENDOMETRIUM	151669846	151674887	151674427	151674427	Missense_Mutation	T	G	p.M1634R
HCC2998_LARGE_INTESTINE	151669846	151674887	151674586	151674586	Missense_Mutation	G	T	p.R1687I
NCIH23_LUNG	151669846	151674887	151674618	151674618	Missense_Mutation	G	C	p.D1698H
22RV1_PROSTATE	151669846	151674887	151674669	151674669	Missense_Mutation	G	A	p.A1715T
NCIH1793_LUNG	151669846	151674887	151671285	151671285	Nonsense_Mutation	C	T	p.Q587*
SNU81_LARGE_INTESTINE	151669846	151674887	151674555	151674555	Nonsense_Mutation	G	T	p.E1677*
SNU81_LARGE_INTESTINE	151669846	151674887	151674843	151674843	Nonsense_Mutation	G	T	p.E1773*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AKAP12

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 AKAP12

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AKAP12

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RelatedDrugs for AKAP12

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 AKAP12

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
AKAP12	C1458155	Mammary Neoplasms	1	CTD_human

	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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Gene summary for AKAP12

Exon skipping events across known transcript of Ensembl for AKAP12 from UCSC genome browser

Gene isoform structures and expression levels for AKAP12

Exon skipping events with PSIs in TCGA for AKAP12

Exon skipping events with PSIs in GTEx for AKAP12

Open reading frame (ORF) annotation in the exon skipping event for AKAP12

Infer the effects of exon skipping event on protein functional features for AKAP12

SNVs in the skipped exons for AKAP12

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AKAP12

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AKAP12

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AKAP12

RelatedDrugs for AKAP12

RelatedDiseases for AKAP12