ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for RUNX2

Gene summary

Gene information	Gene symbol	RUNX2
	Gene ID	860
	Gene name	runt related transcription factor 2
	Synonyms	AML3\|CBF-alpha-1\|CBFA1\|CCD\|CCD1\|CLCD\|OSF-2\|OSF2\|PEA2aA\|PEBP2aA
	Cytomap	6p21.1
	Type of gene	protein-coding
	Description	runt-related transcription factor 2PEA2-alpha APEBP2-alpha ASL3-3 enhancer factor 1 alpha A subunitSL3/AKV core-binding factor alpha A subunitacute myeloid leukemia 3 proteincore-binding factor, runt domain, alpha subunit 1oncogene AML-3osteoblast
	Modification date	20180523
	UniProtAcc	Q13950
	Context	PubMed: RUNX2 [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
RUNX2	GO:0045892	negative regulation of transcription, DNA-templated	11965546
RUNX2	GO:0045893	positive regulation of transcription, DNA-templated	11965546

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Exon skipping events across known transcript of Ensembl for RUNX2 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 RUNX2

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 RUNX2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_452459	6	45296463:45296521:45390329:45390694:45399599:45399756	45390329:45390694	ENSG00000124813.16	ENST00000371436.6,ENST00000352853.5,ENST00000465038.2,ENST00000371438.1,ENST00000576263.1,ENST00000541979.1
exon_skip_452460	6	45405683:45405788:45459677:45459851:45479982:45480144	45459677:45459851	ENSG00000124813.16	ENST00000371436.6,ENST00000483377.1,ENST00000352853.5,ENST00000465038.2,ENST00000371438.1,ENST00000576263.1,ENST00000541979.1,ENST00000359524.5,ENST00000371432.3
exon_skip_452466	6	45459677:45459851:45479982:45480144:45514563:45514946	45479982:45480144	ENSG00000124813.16	ENST00000371436.6,ENST00000541979.1,ENST00000371432.3
exon_skip_452469	6	45479982:45480144:45481186:45481390:45630851:45631609	45481186:45481390	ENSG00000124813.16	ENST00000478660.2
exon_skip_452471	6	45479982:45480144:45512953:45513019:45514563:45514707	45512953:45513019	ENSG00000124813.16	ENST00000483377.1,ENST00000352853.5,ENST00000465038.2,ENST00000371438.1,ENST00000359524.5

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for RUNX2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_452459	6	45296463:45296521:45390329:45390694:45399599:45399756	45390329:45390694	ENSG00000124813.16	ENST00000465038.2,ENST00000352853.5,ENST00000541979.1,ENST00000371438.1,ENST00000371436.6,ENST00000576263.1
exon_skip_452460	6	45405683:45405788:45459677:45459851:45479982:45480144	45459677:45459851	ENSG00000124813.16	ENST00000483377.1,ENST00000465038.2,ENST00000352853.5,ENST00000541979.1,ENST00000371438.1,ENST00000371436.6,ENST00000576263.1,ENST00000371432.3,ENST00000359524.5
exon_skip_452466	6	45459677:45459851:45479982:45480144:45514563:45514946	45479982:45480144	ENSG00000124813.16	ENST00000541979.1,ENST00000371436.6,ENST00000371432.3
exon_skip_452471	6	45479982:45480144:45512953:45513019:45514563:45514707	45512953:45513019	ENSG00000124813.16	ENST00000483377.1,ENST00000465038.2,ENST00000352853.5,ENST00000371438.1,ENST00000359524.5

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 RUNX2

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
ENST00000371438	45390329	45390694	Frame-shift
ENST00000465038	45390329	45390694	Frame-shift
ENST00000371438	45459677	45459851	In-frame
ENST00000465038	45459677	45459851	In-frame
ENST00000371438	45512953	45513019	In-frame
ENST00000465038	45512953	45513019	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
ENST00000371438	45390329	45390694	Frame-shift
ENST00000465038	45390329	45390694	Frame-shift
ENST00000371438	45459677	45459851	In-frame
ENST00000465038	45459677	45459851	In-frame
ENST00000371438	45512953	45513019	In-frame
ENST00000465038	45512953	45513019	In-frame

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Infer the effects of exon skipping event on protein functional features for RUNX2

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
ENST00000371438	5715	521	45459677	45459851	1044	1217	228	286
ENST00000465038	1787	521	45459677	45459851	890	1063	228	286
ENST00000371438	5715	521	45512953	45513019	1380	1445	340	362
ENST00000465038	1787	521	45512953	45513019	1226	1291	340	362

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
ENST00000371438	5715	521	45459677	45459851	1044	1217	228	286
ENST00000465038	1787	521	45459677	45459851	890	1063	228	286
ENST00000371438	5715	521	45512953	45513019	1380	1445	340	362
ENST00000465038	1787	521	45512953	45513019	1226	1291	340	362

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
Q13950	228	286	1	521	Chain	ID=PRO_0000174659;Note=Runt-related transcription factor 2
Q13950	228	286	1	521	Chain	ID=PRO_0000174659;Note=Runt-related transcription factor 2
Q13950	228	286	237	521	Compositional bias	Note=Pro/Ser/Thr-rich
Q13950	228	286	237	521	Compositional bias	Note=Pro/Ser/Thr-rich
Q13950	228	286	238	238	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q13950	228	286	238	238	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q13950	228	286	101	229	Domain	Note=Runt;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00399
Q13950	228	286	101	229	Domain	Note=Runt;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00399
Q13950	228	286	267	267	Modified residue	Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q08775
Q13950	228	286	267	267	Modified residue	Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q08775
Q13950	228	286	67	521	Natural variant	ID=VAR_079576;Note=In CLCD%3B decreased subcellular localization in the nucleus%3B decreased transactivation activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28738062;Dbxref=PMID:28738062
Q13950	228	286	67	521	Natural variant	ID=VAR_079576;Note=In CLCD%3B decreased subcellular localization in the nucleus%3B decreased transactivation activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28738062;Dbxref=PMID:28738062
Q13950	228	286	228	228	Natural variant	ID=VAR_064103;Note=In CLCD. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20648631;Dbxref=PMID:20648631
Q13950	228	286	228	228	Natural variant	ID=VAR_064103;Note=In CLCD. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20648631;Dbxref=PMID:20648631
Q13950	228	286	233	233	Natural variant	ID=VAR_064104;Note=In CLCD. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20648631;Dbxref=PMID:20648631
Q13950	228	286	233	233	Natural variant	ID=VAR_064104;Note=In CLCD. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20648631;Dbxref=PMID:20648631
Q13950	228	286	242	258	Region	Note=Required for interaction with FOXO1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13950	228	286	242	258	Region	Note=Required for interaction with FOXO1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13950	340	362	341	362	Alternative sequence	ID=VSP_005938;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9233771;Dbxref=PMID:9233771
Q13950	340	362	341	362	Alternative sequence	ID=VSP_005938;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9233771;Dbxref=PMID:9233771
Q13950	340	362	1	521	Chain	ID=PRO_0000174659;Note=Runt-related transcription factor 2
Q13950	340	362	1	521	Chain	ID=PRO_0000174659;Note=Runt-related transcription factor 2
Q13950	340	362	237	521	Compositional bias	Note=Pro/Ser/Thr-rich
Q13950	340	362	237	521	Compositional bias	Note=Pro/Ser/Thr-rich
Q13950	340	362	67	521	Natural variant	ID=VAR_079576;Note=In CLCD%3B decreased subcellular localization in the nucleus%3B decreased transactivation activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28738062;Dbxref=PMID:28738062
Q13950	340	362	67	521	Natural variant	ID=VAR_079576;Note=In CLCD%3B decreased subcellular localization in the nucleus%3B decreased transactivation activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28738062;Dbxref=PMID:28738062
Q13950	340	362	362	362	Natural variant	ID=VAR_064106;Note=In CLCD. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11857736;Dbxref=PMID:11857736
Q13950	340	362	362	362	Natural variant	ID=VAR_064106;Note=In CLCD. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11857736;Dbxref=PMID:11857736
Q13950	340	362	336	439	Region	Note=Interaction with KAT6A;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13950	340	362	336	439	Region	Note=Interaction with KAT6A;Ontology_term=ECO:0000250;evidence=ECO:0000250

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
Q13950	228	286	1	521	Chain	ID=PRO_0000174659;Note=Runt-related transcription factor 2
Q13950	228	286	1	521	Chain	ID=PRO_0000174659;Note=Runt-related transcription factor 2
Q13950	228	286	237	521	Compositional bias	Note=Pro/Ser/Thr-rich
Q13950	228	286	237	521	Compositional bias	Note=Pro/Ser/Thr-rich
Q13950	228	286	238	238	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q13950	228	286	238	238	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
Q13950	228	286	101	229	Domain	Note=Runt;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00399
Q13950	228	286	101	229	Domain	Note=Runt;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00399
Q13950	228	286	267	267	Modified residue	Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q08775
Q13950	228	286	267	267	Modified residue	Note=Asymmetric dimethylarginine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q08775
Q13950	228	286	67	521	Natural variant	ID=VAR_079576;Note=In CLCD%3B decreased subcellular localization in the nucleus%3B decreased transactivation activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28738062;Dbxref=PMID:28738062
Q13950	228	286	67	521	Natural variant	ID=VAR_079576;Note=In CLCD%3B decreased subcellular localization in the nucleus%3B decreased transactivation activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28738062;Dbxref=PMID:28738062
Q13950	228	286	228	228	Natural variant	ID=VAR_064103;Note=In CLCD. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20648631;Dbxref=PMID:20648631
Q13950	228	286	228	228	Natural variant	ID=VAR_064103;Note=In CLCD. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20648631;Dbxref=PMID:20648631
Q13950	228	286	233	233	Natural variant	ID=VAR_064104;Note=In CLCD. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20648631;Dbxref=PMID:20648631
Q13950	228	286	233	233	Natural variant	ID=VAR_064104;Note=In CLCD. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:20648631;Dbxref=PMID:20648631
Q13950	228	286	242	258	Region	Note=Required for interaction with FOXO1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13950	228	286	242	258	Region	Note=Required for interaction with FOXO1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13950	340	362	341	362	Alternative sequence	ID=VSP_005938;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9233771;Dbxref=PMID:9233771
Q13950	340	362	341	362	Alternative sequence	ID=VSP_005938;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:9233771;Dbxref=PMID:9233771
Q13950	340	362	1	521	Chain	ID=PRO_0000174659;Note=Runt-related transcription factor 2
Q13950	340	362	1	521	Chain	ID=PRO_0000174659;Note=Runt-related transcription factor 2
Q13950	340	362	237	521	Compositional bias	Note=Pro/Ser/Thr-rich
Q13950	340	362	237	521	Compositional bias	Note=Pro/Ser/Thr-rich
Q13950	340	362	67	521	Natural variant	ID=VAR_079576;Note=In CLCD%3B decreased subcellular localization in the nucleus%3B decreased transactivation activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28738062;Dbxref=PMID:28738062
Q13950	340	362	67	521	Natural variant	ID=VAR_079576;Note=In CLCD%3B decreased subcellular localization in the nucleus%3B decreased transactivation activity. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:28738062;Dbxref=PMID:28738062
Q13950	340	362	362	362	Natural variant	ID=VAR_064106;Note=In CLCD. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11857736;Dbxref=PMID:11857736
Q13950	340	362	362	362	Natural variant	ID=VAR_064106;Note=In CLCD. A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11857736;Dbxref=PMID:11857736
Q13950	340	362	336	439	Region	Note=Interaction with KAT6A;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q13950	340	362	336	439	Region	Note=Interaction with KAT6A;Ontology_term=ECO:0000250;evidence=ECO:0000250

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SNVs in the skipped exons for RUNX2

- 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
COAD	TCGA-AD-5900-01	exon_skip_452459	45390330	45390694	45390355	45390355	Frame_Shift_Del	C	-	p.S28fs
COAD	TCGA-AU-6004-01	exon_skip_452459	45390330	45390694	45390355	45390355	Frame_Shift_Del	C	-	p.S28fs
COAD	TCGA-CK-5916-01	exon_skip_452459	45390330	45390694	45390355	45390355	Frame_Shift_Del	C	-	p.S28fs
COAD	TCGA-F4-6570-01	exon_skip_452459	45390330	45390694	45390355	45390355	Frame_Shift_Del	C	-	p.S28fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_452459	45390330	45390694	45390355	45390355	Frame_Shift_Del	C	-	p.S28fs
STAD	TCGA-HU-8602-01	exon_skip_452459	45390330	45390694	45390355	45390355	Frame_Shift_Del	C	-	p.S28fs
LGG	TCGA-P5-A5EV-01	exon_skip_452459	45390330	45390694	45390354	45390355	Frame_Shift_Ins	-	C	p.S28fs
LGG	TCGA-P5-A5EV-01	exon_skip_452459	45390330	45390694	45390354	45390355	Frame_Shift_Ins	-	C	p.T28fs
UCEC	TCGA-BG-A0LW-01	exon_skip_452459	45390330	45390694	45390354	45390355	Frame_Shift_Ins	-	C	p.S28fs
CESC	TCGA-DS-A3LQ-01	exon_skip_452466	45479983	45480144	45480078	45480079	Frame_Shift_Ins	-	C	p.L389fs
STAD	TCGA-BR-A4QL-01	exon_skip_452459	45390330	45390694	45390581	45390581	Nonsense_Mutation	G	T	p.E104*
STAD	TCGA-BR-A4QL-01	exon_skip_452459	45390330	45390694	45390581	45390581	Nonsense_Mutation	G	T	p.E104X
UCEC	TCGA-A5-A0G9-01	exon_skip_452466	45479983	45480144	45480041	45480041	Nonsense_Mutation	C	A	p.Y306*

- 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
BICR18_UPPER_AERODIGESTIVE_TRACT	45390330	45390694	45390416	45390418	In_Frame_Del	CAA	-	p.Q71del
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	45390330	45390694	45390416	45390418	In_Frame_Del	CAA	-	p.Q71del
SNU1_STOMACH	45390330	45390694	45390467	45390475	In_Frame_Del	CAGCAGCAG	-	p.QQQ69del
BICR18_UPPER_AERODIGESTIVE_TRACT	45390330	45390694	45390457	45390458	In_Frame_Ins	-	CAACAACAGCAA	p.63_63Q>QQQQQ
NCIH2887_LUNG	45390330	45390694	45390529	45390530	In_Frame_Ins	-	GCA	p.87_87A>AA
HCC1806_BREAST	45390330	45390694	45390367	45390367	Missense_Mutation	C	G	p.S32R
SLR23_KIDNEY	45390330	45390694	45390462	45390462	Missense_Mutation	A	G	p.Q64R
RKN_SOFT_TISSUE	45390330	45390694	45390521	45390521	Missense_Mutation	G	A	p.A84T
LS411N_LARGE_INTESTINE	45390330	45390694	45390599	45390599	Missense_Mutation	C	T	p.P110S
SNGM_ENDOMETRIUM	45390330	45390694	45390639	45390639	Missense_Mutation	G	A	p.C123Y
JHUEM7_ENDOMETRIUM	45390330	45390694	45390681	45390681	Missense_Mutation	C	T	p.P137L
CAL851_BREAST	45459678	45459851	45459750	45459750	Missense_Mutation	C	T	p.P253L
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	45459678	45459851	45459768	45459768	Missense_Mutation	T	C	p.V259A
NCIH727_LUNG	45459678	45459851	45459782	45459782	Missense_Mutation	C	A	p.Q264K
MIAPACA2_PANCREAS	45459678	45459851	45459848	45459848	Missense_Mutation	A	G	p.T286A
DERL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	45479983	45480144	45479994	45479994	Missense_Mutation	G	A	p.A291T
TGW_AUTONOMIC_GANGLIA	45479983	45480144	45480024	45480024	Missense_Mutation	C	A	p.Q301K
NCIH650_LUNG	45479983	45480144	45480103	45480103	Missense_Mutation	C	A	p.T327N
SCC15_UPPER_AERODIGESTIVE_TRACT	45479983	45480144	45480136	45480136	Missense_Mutation	G	A	p.R338H
BICR18_UPPER_AERODIGESTIVE_TRACT	45512954	45513019	45512995	45512995	Missense_Mutation	A	T	p.T355S
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	45390330	45390694	45390446	45390446	Nonsense_Mutation	C	T	p.Q59*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RUNX2

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 RUNX2

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RUNX2

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RelatedDrugs for RUNX2

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 RUNX2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
RUNX2	C0008928	Cleidocranial Dysplasia	12	CTD_human;ORPHANET;UNIPROT
RUNX2	C0029463	Osteosarcoma	2	CTD_human
RUNX2	C0003872	Arthritis, Psoriatic	1	CTD_human
RUNX2	C0003873	Rheumatoid Arthritis	1	CTD_human
RUNX2	C0029408	Degenerative polyarthritis	1	CTD_human
RUNX2	C0040427	Tooth Abnormalities	1	CTD_human
RUNX2	C0041948	Uremia	1	CTD_human
RUNX2	C0243057	Stomatognathic System Abnormalities	1	CTD_human
RUNX2	C0376634	Craniofacial Abnormalities	1	CTD_human
RUNX2	C0949690	Spondylarthritis	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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