ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for ARHGEF12

Gene summary

Gene information	Gene symbol	ARHGEF12
	Gene ID	23365
	Gene name	Rho guanine nucleotide exchange factor 12
	Synonyms	LARG\|PRO2792
	Cytomap	11q23.3
	Type of gene	protein-coding
	Description	rho guanine nucleotide exchange factor 12Rho guanine nucleotide exchange factor (GEF) 12leukemia-associated RhoGEFleukemia-associated rho guanine nucleotide exchange factor
	Modification date	20180519
	UniProtAcc	Q9NZN5
	Context	PubMed: ARHGEF12 [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
ARHGEF12	GO:0007186	G-protein coupled receptor signaling pathway	15755723

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Exon skipping events across known transcript of Ensembl for ARHGEF12 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 ARHGEF12

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 ARHGEF12

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_66008	11	120207945:120207984:120276826:120276850:120278446:120278532	120276826:120276850	ENSG00000196914.4	ENST00000356641.3
exon_skip_66011	11	120278446:120278532:120280102:120280159:120291461:120291517	120280102:120280159	ENSG00000196914.4	ENST00000529970.1,ENST00000397843.2,ENST00000532993.1
exon_skip_66015	11	120291461:120291560:120292511:120292561:120295066:120295124	120292511:120292561	ENSG00000196914.4	ENST00000529970.1,ENST00000397843.2,ENST00000532993.1,ENST00000356641.3
exon_skip_66016	11	120292511:120292561:120295066:120295124:120298777:120298956	120295066:120295124	ENSG00000196914.4	ENST00000529970.1,ENST00000397843.2,ENST00000532993.1,ENST00000356641.3
exon_skip_66018	11	120300148:120300226:120300420:120300540:120302479:120302620	120300420:120300540	ENSG00000196914.4	ENST00000529970.1,ENST00000397843.2,ENST00000532993.1,ENST00000356641.3
exon_skip_66019	11	120300420:120300540:120302479:120302620:120308016:120308091	120302479:120302620	ENSG00000196914.4	ENST00000529970.1,ENST00000397843.2,ENST00000532993.1,ENST00000356641.3
exon_skip_66020	11	120302479:120302620:120308016:120308091:120310837:120310930	120308016:120308091	ENSG00000196914.4	ENST00000529970.1,ENST00000397843.2,ENST00000532993.1,ENST00000356641.3
exon_skip_66022	11	120312415:120312526:120312812:120312911:120316130:120316173	120312812:120312911	ENSG00000196914.4	ENST00000529970.1,ENST00000397843.2,ENST00000528225.1,ENST00000532993.1,ENST00000356641.3
exon_skip_66024	11	120317656:120317794:120318582:120318615:120318942:120319057	120318582:120318615	ENSG00000196914.4	ENST00000529970.1,ENST00000397843.2,ENST00000528225.1,ENST00000532993.1,ENST00000356641.3
exon_skip_66025	11	120319817:120319923:120322220:120322433:120327826:120327959	120322220:120322433	ENSG00000196914.4	ENST00000529970.1,ENST00000397843.2,ENST00000532823.1,ENST00000532993.1,ENST00000356641.3
exon_skip_66026	11	120327826:120327959:120328429:120328465:120328788:120328943	120328429:120328465	ENSG00000196914.4	ENST00000529970.1,ENST00000525222.1,ENST00000397843.2,ENST00000532993.1,ENST00000356641.3
exon_skip_66028	11	120331380:120331466:120335945:120336071:120337902:120338017	120335945:120336071	ENSG00000196914.4	ENST00000529970.1,ENST00000530747.1,ENST00000397843.2,ENST00000532993.1,ENST00000356641.3
exon_skip_66031	11	120350668:120351139:120351968:120352285:120355146:120355216	120351968:120352285	ENSG00000196914.4	ENST00000397843.2,ENST00000532993.1,ENST00000356641.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for ARHGEF12

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_66008	11	120207945:120207984:120276826:120276850:120278446:120278532	120276826:120276850	ENSG00000196914.4	ENST00000356641.3
exon_skip_66011	11	120278446:120278532:120280102:120280159:120291461:120291517	120280102:120280159	ENSG00000196914.4	ENST00000397843.2,ENST00000532993.1,ENST00000529970.1
exon_skip_66015	11	120291461:120291560:120292511:120292561:120295066:120295124	120292511:120292561	ENSG00000196914.4	ENST00000397843.2,ENST00000356641.3,ENST00000532993.1,ENST00000529970.1
exon_skip_66016	11	120292511:120292561:120295066:120295124:120298777:120298956	120295066:120295124	ENSG00000196914.4	ENST00000397843.2,ENST00000356641.3,ENST00000532993.1,ENST00000529970.1
exon_skip_66018	11	120300148:120300226:120300420:120300540:120302479:120302620	120300420:120300540	ENSG00000196914.4	ENST00000397843.2,ENST00000356641.3,ENST00000532993.1,ENST00000529970.1
exon_skip_66019	11	120300420:120300540:120302479:120302620:120308016:120308091	120302479:120302620	ENSG00000196914.4	ENST00000397843.2,ENST00000356641.3,ENST00000532993.1,ENST00000529970.1
exon_skip_66020	11	120302479:120302620:120308016:120308091:120310837:120310930	120308016:120308091	ENSG00000196914.4	ENST00000397843.2,ENST00000356641.3,ENST00000532993.1,ENST00000529970.1
exon_skip_66022	11	120312415:120312526:120312812:120312911:120316130:120316173	120312812:120312911	ENSG00000196914.4	ENST00000397843.2,ENST00000356641.3,ENST00000532993.1,ENST00000529970.1,ENST00000528225.1
exon_skip_66024	11	120317656:120317794:120318582:120318615:120318942:120319057	120318582:120318615	ENSG00000196914.4	ENST00000397843.2,ENST00000356641.3,ENST00000532993.1,ENST00000529970.1,ENST00000528225.1
exon_skip_66025	11	120319817:120319923:120322220:120322433:120327826:120327959	120322220:120322433	ENSG00000196914.4	ENST00000397843.2,ENST00000356641.3,ENST00000532993.1,ENST00000529970.1,ENST00000532823.1
exon_skip_66026	11	120327826:120327959:120328429:120328465:120328788:120328943	120328429:120328465	ENSG00000196914.4	ENST00000397843.2,ENST00000356641.3,ENST00000532993.1,ENST00000529970.1,ENST00000525222.1
exon_skip_66028	11	120331380:120331466:120335945:120336071:120337902:120338017	120335945:120336071	ENSG00000196914.4	ENST00000397843.2,ENST00000356641.3,ENST00000532993.1,ENST00000529970.1,ENST00000530747.1
exon_skip_66031	11	120350668:120351139:120351968:120352285:120355146:120355216	120351968:120352285	ENSG00000196914.4	ENST00000397843.2,ENST00000356641.3,ENST00000532993.1

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 ARHGEF12

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
ENST00000397843	120292511	120292561	Frame-shift
ENST00000397843	120295066	120295124	Frame-shift
ENST00000397843	120351968	120352285	Frame-shift
ENST00000397843	120280102	120280159	In-frame
ENST00000397843	120300420	120300540	In-frame
ENST00000397843	120302479	120302620	In-frame
ENST00000397843	120308016	120308091	In-frame
ENST00000397843	120312812	120312911	In-frame
ENST00000397843	120318582	120318615	In-frame
ENST00000397843	120322220	120322433	In-frame
ENST00000397843	120328429	120328465	In-frame
ENST00000397843	120335945	120336071	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
ENST00000397843	120292511	120292561	Frame-shift
ENST00000397843	120295066	120295124	Frame-shift
ENST00000397843	120351968	120352285	Frame-shift
ENST00000397843	120280102	120280159	In-frame
ENST00000397843	120300420	120300540	In-frame
ENST00000397843	120302479	120302620	In-frame
ENST00000397843	120308016	120308091	In-frame
ENST00000397843	120312812	120312911	In-frame
ENST00000397843	120318582	120318615	In-frame
ENST00000397843	120322220	120322433	In-frame
ENST00000397843	120328429	120328465	In-frame
ENST00000397843	120335945	120336071	In-frame

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Infer the effects of exon skipping event on protein functional features for ARHGEF12

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
ENST00000397843	9677	1544	120280102	120280159	309	365	47	66
ENST00000397843	9677	1544	120300420	120300540	830	949	221	261
ENST00000397843	9677	1544	120302479	120302620	950	1090	261	308
ENST00000397843	9677	1544	120308016	120308091	1091	1165	308	333
ENST00000397843	9677	1544	120312812	120312911	1370	1468	401	434
ENST00000397843	9677	1544	120318582	120318615	1756	1788	530	540
ENST00000397843	9677	1544	120322220	120322433	2010	2222	614	685
ENST00000397843	9677	1544	120328429	120328465	2356	2391	730	741
ENST00000397843	9677	1544	120335945	120336071	2780	2905	871	913

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
ENST00000397843	9677	1544	120280102	120280159	309	365	47	66
ENST00000397843	9677	1544	120300420	120300540	830	949	221	261
ENST00000397843	9677	1544	120302479	120302620	950	1090	261	308
ENST00000397843	9677	1544	120308016	120308091	1091	1165	308	333
ENST00000397843	9677	1544	120312812	120312911	1370	1468	401	434
ENST00000397843	9677	1544	120318582	120318615	1756	1788	530	540
ENST00000397843	9677	1544	120322220	120322433	2010	2222	614	685
ENST00000397843	9677	1544	120328429	120328465	2356	2391	730	741
ENST00000397843	9677	1544	120335945	120336071	2780	2905	871	913

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
Q9NZN5	47	66	48	66	Alternative sequence	ID=VSP_008131;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10681437,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10681437,PMID:15489334
Q9NZN5	47	66	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	221	261	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	221	261	194	262	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZN5	261	308	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	261	308	194	262	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZN5	261	308	308	309	Site	Note=Breakpoint for translocation to form KMT2A/MLL1-ARHGEF12 oncogene
Q9NZN5	308	333	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	308	333	309	309	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
Q9NZN5	308	333	308	309	Site	Note=Breakpoint for translocation to form KMT2A/MLL1-ARHGEF12 oncogene
Q9NZN5	401	434	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	401	434	367	558	Domain	Note=RGSL
Q9NZN5	530	540	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	530	540	367	558	Domain	Note=RGSL
Q9NZN5	614	685	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	614	685	637	637	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:23186163,PMID:24275569
Q9NZN5	730	741	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	730	741	736	736	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18088087,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18088087,PMID:23186163
Q9NZN5	871	913	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	871	913	787	977	Domain	Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00062
Q9NZN5	871	913	865	872	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TXD
Q9NZN5	871	913	875	889	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TXD
Q9NZN5	871	913	891	904	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TXD
Q9NZN5	871	913	906	917	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TXD

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
Q9NZN5	47	66	48	66	Alternative sequence	ID=VSP_008131;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10681437,ECO:0000303\|PubMed:15489334;Dbxref=PMID:10681437,PMID:15489334
Q9NZN5	47	66	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	221	261	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	221	261	194	262	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZN5	261	308	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	261	308	194	262	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q9NZN5	261	308	308	309	Site	Note=Breakpoint for translocation to form KMT2A/MLL1-ARHGEF12 oncogene
Q9NZN5	308	333	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	308	333	309	309	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:23186163,PMID:24275569
Q9NZN5	308	333	308	309	Site	Note=Breakpoint for translocation to form KMT2A/MLL1-ARHGEF12 oncogene
Q9NZN5	401	434	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	401	434	367	558	Domain	Note=RGSL
Q9NZN5	530	540	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	530	540	367	558	Domain	Note=RGSL
Q9NZN5	614	685	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	614	685	637	637	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:23186163,PMID:24275569
Q9NZN5	730	741	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	730	741	736	736	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:18088087,ECO:0000244\|PubMed:23186163;Dbxref=PMID:18088087,PMID:23186163
Q9NZN5	871	913	2	1544	Chain	ID=PRO_0000080930;Note=Rho guanine nucleotide exchange factor 12
Q9NZN5	871	913	787	977	Domain	Note=DH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00062
Q9NZN5	871	913	865	872	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TXD
Q9NZN5	871	913	875	889	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TXD
Q9NZN5	871	913	891	904	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TXD
Q9NZN5	871	913	906	917	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1TXD

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SNVs in the skipped exons for ARHGEF12

- 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-A3A0-01	exon_skip_66008	120276827	120276850	120276837	120276837	Frame_Shift_Del	A	-	p.K16fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_66015	120292512	120292561	120292559	120292559	Frame_Shift_Del	A	-	p.K116fs
STAD	TCGA-BR-4370-01	exon_skip_66020	120308017	120308091	120308057	120308057	Frame_Shift_Del	A	-	p.E322fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_66028	120335946	120336071	120335973	120335973	Frame_Shift_Del	A	-	p.K881fs
LIHC	TCGA-DD-A3A0-01	exon_skip_66028	120335946	120336071	120336039	120336039	Frame_Shift_Del	A	-	p.K904fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_66031	120351969	120352285	120352131	120352131	Frame_Shift_Del	T	-	p.I1467fs
UCEC	TCGA-B5-A0JZ-01	exon_skip_66008	120276827	120276850	120276836	120276837	Frame_Shift_Ins	-	A	p.L14fs
UCEC	TCGA-BS-A0UV-01	exon_skip_66020	120308017	120308091	120308038	120308038	Nonsense_Mutation	G	T	p.E316*
CESC	TCGA-C5-A1MQ-01	exon_skip_66022	120312813	120312911	120312840	120312840	Nonsense_Mutation	A	T	p.K392*
CESC	TCGA-C5-A1MQ-01	exon_skip_66022	120312813	120312911	120312840	120312840	Nonsense_Mutation	A	T	p.K411*
BLCA	TCGA-ZF-AA4V-01	exon_skip_66022	120312813	120312911	120312888	120312888	Nonsense_Mutation	C	T	p.Q427*
UCEC	TCGA-AX-A05Z-01	exon_skip_66025	120322221	120322433	120322337	120322337	Nonsense_Mutation	G	T	p.E654*
ESCA	TCGA-V5-A7RE-01	exon_skip_66026	120328430	120328465	120328461	120328461	Nonsense_Mutation	C	T	p.R722*
ESCA	TCGA-V5-A7RE-01	exon_skip_66026	120328430	120328465	120328461	120328461	Nonsense_Mutation	C	T	p.R741*
ESCA	TCGA-V5-A7RE-01	exon_skip_66026	120328430	120328465	120328461	120328461	Nonsense_Mutation	C	T	p.R741X
LUSC	TCGA-33-4566-01	exon_skip_66031	120351969	120352285	120352171	120352171	Nonsense_Mutation	G	A	p.W1480*
BRCA	TCGA-A8-A075-01	exon_skip_66031	120351969	120352285	120352172	120352172	Nonsense_Mutation	G	T	p.G1481*
LUAD	TCGA-44-2657-01	exon_skip_66020	120308017	120308091	120308016	120308016	Splice_Site	G	C	p.S309_splice
UCEC	TCGA-D1-A103-01	exon_skip_66022	120312813	120312911	120312812	120312812	Splice_Site	G	T	e15-1

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-D1-A103-01
	Cancer type: UCEC
	ESID: exon_skip_66022
	Skipped exon start: 120312813
	Skipped exon end: 120312911
	Mutation start: 120312812
	Mutation end: 120312812
	Mutation type: Splice_Site
	Reference seq: G
	Mutation seq: T
	AAchange: e15-1
exon_skip_101712_UCEC_TCGA-D1-A103-01.png
exon_skip_140352_UCEC_TCGA-D1-A103-01.png
exon_skip_347979_UCEC_TCGA-D1-A103-01.png
exon_skip_347981_UCEC_TCGA-D1-A103-01.png
exon_skip_3553_UCEC_TCGA-D1-A103-01.png
exon_skip_387613_UCEC_TCGA-D1-A103-01.png
exon_skip_421138_UCEC_TCGA-D1-A103-01.png
exon_skip_421147_UCEC_TCGA-D1-A103-01.png
exon_skip_66022_UCEC_TCGA-D1-A103-01.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
BC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	120295067	120295124	120295087	120295090	Frame_Shift_Del	TCAT	-	p.TH123fs
IM95_STOMACH	120302480	120302620	120302576	120302577	Frame_Shift_Del	TG	-	p.C294fs
HEC6_ENDOMETRIUM	120335946	120336071	120335991	120335991	Frame_Shift_Del	T	-	p.F887fs
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	120276827	120276850	120276842	120276842	Missense_Mutation	A	T	p.K16N
SUM149PT_BREAST	120280103	120280159	120280140	120280140	Missense_Mutation	G	C	p.E60D
SNU81_LARGE_INTESTINE	120280103	120280159	120280150	120280150	Missense_Mutation	G	A	p.E64K
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	120292512	120292561	120292536	120292536	Missense_Mutation	T	C	p.V108A
BT12_SOFT_TISSUE	120295067	120295124	120295086	120295086	Missense_Mutation	C	A	p.T123N
BICR18_UPPER_AERODIGESTIVE_TRACT	120295067	120295124	120295122	120295122	Missense_Mutation	A	G	p.K135R
HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	120302480	120302620	120302618	120302618	Missense_Mutation	G	T	p.D308Y
HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	120302480	120302620	120302618	120302618	Missense_Mutation	G	T	p.D308Y
ONS76_CENTRAL_NERVOUS_SYSTEM	120308017	120308091	120308050	120308050	Missense_Mutation	C	G	p.L320V
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	120308017	120308091	120308061	120308061	Missense_Mutation	C	G	p.N323K
IGROV1_OVARY	120308017	120308091	120308065	120308065	Missense_Mutation	G	C	p.E325Q
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	120322221	120322433	120322251	120322251	Missense_Mutation	G	A	p.R625H
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	120322221	120322433	120322283	120322283	Missense_Mutation	G	A	p.V636M
NCIH2106_LUNG	120322221	120322433	120322326	120322326	Missense_Mutation	G	T	p.G650V
SNU878_LIVER	120335946	120336071	120336052	120336052	Missense_Mutation	G	A	p.R907Q
SNU81_LARGE_INTESTINE	120335946	120336071	120336052	120336052	Missense_Mutation	G	A	p.R907Q
BICR18_UPPER_AERODIGESTIVE_TRACT	120351969	120352285	120351975	120351975	Missense_Mutation	A	G	p.Y1415C
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	120351969	120352285	120351992	120351992	Missense_Mutation	T	C	p.Y1421H
JK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	120351969	120352285	120352028	120352028	Missense_Mutation	G	A	p.V1433I
SNU449_LIVER	120351969	120352285	120352044	120352044	Missense_Mutation	C	G	p.T1438S
GP2D_LARGE_INTESTINE	120351969	120352285	120352056	120352056	Missense_Mutation	T	C	p.M1442T
GP5D_LARGE_INTESTINE	120351969	120352285	120352056	120352056	Missense_Mutation	T	C	p.M1442T
SNU1040_LARGE_INTESTINE	120351969	120352285	120352128	120352128	Missense_Mutation	C	T	p.A1466V
HCT15_LARGE_INTESTINE	120351969	120352285	120352181	120352181	Missense_Mutation	G	A	p.E1484K
HEC1A_ENDOMETRIUM	120351969	120352285	120352203	120352203	Missense_Mutation	A	T	p.Q1491L
HEC1_ENDOMETRIUM	120351969	120352285	120352203	120352203	Missense_Mutation	A	T	p.Q1491L
HEC1B_ENDOMETRIUM	120351969	120352285	120352203	120352203	Missense_Mutation	A	T	p.Q1491L
RT112_URINARY_TRACT	120351969	120352285	120352215	120352215	Missense_Mutation	C	G	p.S1495C
GB1_CENTRAL_NERVOUS_SYSTEM	120351969	120352285	120352171	120352171	Nonsense_Mutation	G	A	p.W1480*
OVMIU_OVARY	120276827	120276850	120276827	120276827	Splice_Site	G	T	p.R11S
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	120276827	120276850	120276828	120276828	Splice_Site	T	C	p.F12L

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARHGEF12

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 ARHGEF12

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARHGEF12

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RelatedDrugs for ARHGEF12

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 ARHGEF12

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
ARHGEF12	C0043094	Weight Gain	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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