ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for RIPK1

Gene summary

Gene information	Gene symbol	RIPK1
	Gene ID	8737
	Gene name	receptor interacting serine/threonine kinase 1
	Synonyms	RIP\|RIP-1\|RIP1
	Cytomap	6p25.2
	Type of gene	protein-coding
	Description	receptor-interacting serine/threonine-protein kinase 1cell death protein RIPreceptor (TNFRSF)-interacting serine-threonine kinase 1receptor-interacting protein 1receptor-interacting protein kinase 1serine/threonine-protein kinase RIP
	Modification date	20180523
	UniProtAcc	Q13546
	Context	PubMed: RIPK1 [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
RIPK1	GO:0032757	positive regulation of interleukin-8 production	16127453
RIPK1	GO:0032760	positive regulation of tumor necrosis factor production	16127453
RIPK1	GO:0036289	peptidyl-serine autophosphorylation	23473668
RIPK1	GO:0043065	positive regulation of apoptotic process	8612133\|17389591
RIPK1	GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling	17389591
RIPK1	GO:0044257	cellular protein catabolic process	17389591
RIPK1	GO:0045944	positive regulation of transcription by RNA polymerase II	16127453\|17389591
RIPK1	GO:0046330	positive regulation of JNK cascade	17389591
RIPK1	GO:0046777	protein autophosphorylation	8612133
RIPK1	GO:0051260	protein homooligomerization	22817896
RIPK1	GO:0071356	cellular response to tumor necrosis factor	17389591
RIPK1	GO:0097191	extrinsic apoptotic signaling pathway	7538908

Top

Exon skipping events across known transcript of Ensembl for RIPK1 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 RIPK1

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for RIPK1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_447587	6	3068657:3068895:3076997:3077221:3078012:3078169	3076997:3077221	ENSG00000137275.9	ENST00000259808.4
exon_skip_447591	6	3077057:3077221:3078012:3078169:3081212:3081350	3078012:3078169	ENSG00000137275.9	ENST00000380409.2,ENST00000259808.4
exon_skip_447592	6	3077057:3077221:3078012:3078169:3083318:3083547	3078012:3078169	ENSG00000137275.9	ENST00000541791.1
exon_skip_447594	6	3078012:3078169:3081212:3081350:3083318:3083547	3081212:3081350	ENSG00000137275.9	ENST00000380409.2,ENST00000259808.4,ENST00000479389.1
exon_skip_447596	6	3081212:3081350:3083318:3083547:3085492:3085642	3083318:3083547	ENSG00000137275.9	ENST00000380409.2,ENST00000259808.4,ENST00000479389.1
exon_skip_447598	6	3083318:3083547:3085492:3085642:3089814:3089891	3085492:3085642	ENSG00000137275.9	ENST00000380409.2,ENST00000259808.4,ENST00000479389.1,ENST00000541791.1
exon_skip_447599	6	3085492:3085642:3089814:3089891:3104458:3104549	3089814:3089891	ENSG00000137275.9	ENST00000380409.2,ENST00000259808.4,ENST00000479389.1,ENST00000541791.1

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for RIPK1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_447587	6	3068657:3068895:3076997:3077221:3078012:3078169	3076997:3077221	ENSG00000137275.9	ENST00000259808.4
exon_skip_447591	6	3077057:3077221:3078012:3078169:3081212:3081350	3078012:3078169	ENSG00000137275.9	ENST00000259808.4,ENST00000380409.2
exon_skip_447592	6	3077057:3077221:3078012:3078169:3083318:3083547	3078012:3078169	ENSG00000137275.9	ENST00000541791.1
exon_skip_447594	6	3078012:3078169:3081212:3081350:3083318:3083547	3081212:3081350	ENSG00000137275.9	ENST00000479389.1,ENST00000259808.4,ENST00000380409.2
exon_skip_447596	6	3081212:3081350:3083318:3083547:3085492:3085642	3083318:3083547	ENSG00000137275.9	ENST00000479389.1,ENST00000259808.4,ENST00000380409.2
exon_skip_447598	6	3083318:3083547:3085492:3085642:3089814:3089891	3085492:3085642	ENSG00000137275.9	ENST00000479389.1,ENST00000259808.4,ENST00000541791.1,ENST00000380409.2
exon_skip_447599	6	3085492:3085642:3089814:3089891:3104458:3104549	3089814:3089891	ENSG00000137275.9	ENST00000479389.1,ENST00000259808.4,ENST00000541791.1,ENST00000380409.2

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for RIPK1

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
ENST00000259808	3076997	3077221	5CDS-5UTR
ENST00000259808	3078012	3078169	Frame-shift
ENST00000380409	3078012	3078169	Frame-shift
ENST00000259808	3083318	3083547	Frame-shift
ENST00000380409	3083318	3083547	Frame-shift
ENST00000259808	3089814	3089891	Frame-shift
ENST00000380409	3089814	3089891	Frame-shift
ENST00000259808	3081212	3081350	In-frame
ENST00000380409	3081212	3081350	In-frame
ENST00000259808	3085492	3085642	In-frame
ENST00000380409	3085492	3085642	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
ENST00000259808	3076997	3077221	5CDS-5UTR
ENST00000259808	3078012	3078169	Frame-shift
ENST00000380409	3078012	3078169	Frame-shift
ENST00000259808	3083318	3083547	Frame-shift
ENST00000380409	3083318	3083547	Frame-shift
ENST00000259808	3089814	3089891	Frame-shift
ENST00000380409	3089814	3089891	Frame-shift
ENST00000259808	3081212	3081350	In-frame
ENST00000380409	3081212	3081350	In-frame
ENST00000259808	3085492	3085642	In-frame
ENST00000380409	3085492	3085642	In-frame

Top

Infer the effects of exon skipping event on protein functional features for RIPK1

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
ENST00000259808	4177	671	3081212	3081350	620	757	107	153
ENST00000380409	3881	671	3081212	3081350	322	459	107	153
ENST00000259808	4177	671	3085492	3085642	987	1136	229	279
ENST00000380409	3881	671	3085492	3085642	689	838	229	279

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
ENST00000259808	4177	671	3081212	3081350	620	757	107	153
ENST00000380409	3881	671	3081212	3081350	322	459	107	153
ENST00000259808	4177	671	3085492	3085642	987	1136	229	279
ENST00000380409	3881	671	3085492	3085642	689	838	229	279

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
Q13546	107	153	138	138	Active site	Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159,ECO:0000255\|PROSITE-ProRule:PRU10027
Q13546	107	153	138	138	Active site	Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159,ECO:0000255\|PROSITE-ProRule:PRU10027
Q13546	107	153	108	153	Alternative sequence	ID=VSP_037690;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q13546	107	153	108	153	Alternative sequence	ID=VSP_037690;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q13546	107	153	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	144	146	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	144	146	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	152	154	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	152	154	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	1	671	Chain	ID=PRO_0000086606;Note=Receptor-interacting serine/threonine-protein kinase 1
Q13546	107	153	1	671	Chain	ID=PRO_0000086606;Note=Receptor-interacting serine/threonine-protein kinase 1
Q13546	107	153	17	289	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q13546	107	153	17	289	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q13546	107	153	112	131	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	112	131	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	141	143	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	141	143	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	1	671	Chain	ID=PRO_0000086606;Note=Receptor-interacting serine/threonine-protein kinase 1
Q13546	229	279	1	671	Chain	ID=PRO_0000086606;Note=Receptor-interacting serine/threonine-protein kinase 1
Q13546	229	279	17	289	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q13546	229	279	17	289	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q13546	229	279	228	230	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6C4D
Q13546	229	279	228	230	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6C4D
Q13546	229	279	234	242	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	234	242	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	249	251	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	249	251	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	258	267	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	258	267	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	272	274	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	272	274	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	278	292	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	278	292	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	234	234	Natural variant	ID=VAR_021109;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs17548383
Q13546	229	279	234	234	Natural variant	ID=VAR_021109;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs17548383
Q13546	229	279	258	258	Sequence conflict	Note=R->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13546	229	279	258	258	Sequence conflict	Note=R->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13546	229	279	252	255	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6C3E
Q13546	229	279	252	255	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6C3E

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
Q13546	107	153	138	138	Active site	Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159,ECO:0000255\|PROSITE-ProRule:PRU10027
Q13546	107	153	138	138	Active site	Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159,ECO:0000255\|PROSITE-ProRule:PRU10027
Q13546	107	153	108	153	Alternative sequence	ID=VSP_037690;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q13546	107	153	108	153	Alternative sequence	ID=VSP_037690;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q13546	107	153	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	106	108	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	144	146	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	144	146	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	152	154	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	152	154	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	1	671	Chain	ID=PRO_0000086606;Note=Receptor-interacting serine/threonine-protein kinase 1
Q13546	107	153	1	671	Chain	ID=PRO_0000086606;Note=Receptor-interacting serine/threonine-protein kinase 1
Q13546	107	153	17	289	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q13546	107	153	17	289	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q13546	107	153	112	131	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	112	131	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	141	143	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	107	153	141	143	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	1	671	Chain	ID=PRO_0000086606;Note=Receptor-interacting serine/threonine-protein kinase 1
Q13546	229	279	1	671	Chain	ID=PRO_0000086606;Note=Receptor-interacting serine/threonine-protein kinase 1
Q13546	229	279	17	289	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q13546	229	279	17	289	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
Q13546	229	279	228	230	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6C4D
Q13546	229	279	228	230	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6C4D
Q13546	229	279	234	242	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	234	242	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	249	251	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	249	251	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	258	267	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	258	267	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	272	274	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	272	274	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	278	292	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	278	292	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4ITJ
Q13546	229	279	234	234	Natural variant	ID=VAR_021109;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs17548383
Q13546	229	279	234	234	Natural variant	ID=VAR_021109;Note=E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.4;Dbxref=dbSNP:rs17548383
Q13546	229	279	258	258	Sequence conflict	Note=R->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13546	229	279	258	258	Sequence conflict	Note=R->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13546	229	279	252	255	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6C3E
Q13546	229	279	252	255	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:6C3E

Top

SNVs in the skipped exons for RIPK1

- 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_447587	3076998	3077221	3077139	3077139	Frame_Shift_Del	T	-	p.F28fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_447587	3076998	3077221	3077139	3077139	Frame_Shift_Del	T	-	p.F28fs
LIHC	TCGA-DD-A3A0-01	exon_skip_447587	3076998	3077221	3077159	3077159	Frame_Shift_Del	T	-	p.C34fs
LIHC	TCGA-DD-A3A0-01	exon_skip_447587	3076998	3077221	3077190	3077190	Frame_Shift_Del	A	-	p.K45fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_447587	3076998	3077221	3077190	3077190	Frame_Shift_Del	A	-	p.K45fs
LIHC	TCGA-DD-A39Y-01	exon_skip_447594	3081213	3081350	3081253	3081253	Frame_Shift_Del	A	-	p.E121fs
LIHC	TCGA-DD-A3A0-01	exon_skip_447598	3085493	3085642	3085551	3085551	Frame_Shift_Del	G	-	p.V249fs
LIHC	TCGA-DD-A1EG-01	exon_skip_447599	3089815	3089891	3089824	3089824	Frame_Shift_Del	A	-	p.E283fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_447599	3089815	3089891	3089824	3089824	Frame_Shift_Del	A	-	p.E283fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_447599	3089815	3089891	3089837	3089837	Frame_Shift_Del	T	-	p.P287fs
UCEC	TCGA-D1-A17D-01	exon_skip_447599	3089815	3089891	3089839	3089842	Frame_Shift_Del	TTTA	-	p.F288fs
UCEC	TCGA-D1-A17D-01	exon_skip_447599	3089815	3089891	3089839	3089842	Frame_Shift_Del	TTTA	-	p.Y289fs
LIHC	TCGA-DD-A3A0-01	exon_skip_447599	3089815	3089891	3089843	3089843	Frame_Shift_Del	T	-	p.Y289fs

- 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
MHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3076998	3077221	3077217	3077217	Missense_Mutation	A	G	p.I54V
NB1_AUTONOMIC_GANGLIA	3078013	3078169	3078083	3078083	Missense_Mutation	C	G	p.L79V
NCIH510_LUNG	3078013	3078169	3078127	3078127	Missense_Mutation	G	T	p.E93D
JHUEM3_ENDOMETRIUM	3081213	3081350	3081288	3081288	Missense_Mutation	G	A	p.G133S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3081213	3081350	3081295	3081295	Missense_Mutation	T	C	p.I135T
TE9_OESOPHAGUS	3083319	3083547	3083361	3083361	Missense_Mutation	C	A	p.L168M
SNU407_LARGE_INTESTINE	3083319	3083547	3083416	3083416	Missense_Mutation	A	G	p.N186S
NCIH187_LUNG	3083319	3083547	3083434	3083434	Missense_Mutation	A	G	p.Y192C
HEC59_ENDOMETRIUM	3083319	3083547	3083482	3083482	Missense_Mutation	A	G	p.K208R
ALLPO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	3083319	3083547	3083521	3083521	Missense_Mutation	T	A	p.I221K
HEC251_ENDOMETRIUM	3085493	3085642	3085528	3085528	Missense_Mutation	A	C	p.K242Q
HT115_LARGE_INTESTINE	3085493	3085642	3085529	3085529	Missense_Mutation	A	C	p.K242T
HCC1569_BREAST	3085493	3085642	3085633	3085633	Missense_Mutation	A	G	p.T277A
SNU81_LARGE_INTESTINE	3085493	3085642	3085579	3085579	Nonsense_Mutation	G	T	p.E259*

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RIPK1

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 RIPK1

Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RIPK1

Top

RelatedDrugs for RIPK1

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
	Q13546	DB12010	Fostamatinib	Receptor-interacting serine/threonine-protein kinase 1	small molecule	approved\|investigational

Top

RelatedDiseases for RIPK1

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

Home

Download

Statistics

Landscape

Help

Contact