ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for RAB34

Gene summary

Gene information	Gene symbol	RAB34
	Gene ID	83871
	Gene name	RAB34, member RAS oncogene family
	Synonyms	NARR\|RAB39\|RAH
	Cytomap	17q11.2
	Type of gene	protein-coding
	Description	ras-related protein Rab-34nine amino-acid residue-repeatsras-related protein Rab-39ras-related protein Rah
	Modification date	20180523
	UniProtAcc	Q9BZG1
	Context	PubMed: RAB34 [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
RAB34	GO:0032418	lysosome localization	17881736
RAB34	GO:0043001	Golgi to plasma membrane protein transport	17881736
RAB34	GO:0044351	macropinocytosis	17881736
RAB34	GO:0072659	protein localization to plasma membrane	17881736

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Exon skipping events across known transcript of Ensembl for RAB34 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 RAB34

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 RAB34

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_287622	17	27041690:27041728:27041810:27041918:27042049:27042140	27041810:27041918	ENSG00000109113.13	ENST00000484161.1,ENST00000395242.2,ENST00000395243.3,ENST00000583538.1,ENST00000395245.3,ENST00000301043.6,ENST00000447716.1,ENST00000430132.2,ENST00000436730.3,ENST00000415040.2,ENST00000450529.1
exon_skip_287627	17	27042080:27042140:27042212:27042232:27042473:27042503	27042212:27042232	ENSG00000109113.13	ENST00000422279.2
exon_skip_287628	17	27042080:27042140:27042212:27042294:27042473:27042503	27042212:27042294	ENSG00000109113.13	ENST00000353676.5,ENST00000453384.3,ENST00000395242.2,ENST00000395245.3,ENST00000301043.6,ENST00000412625.1,ENST00000447716.1,ENST00000430132.2,ENST00000436730.3,ENST00000415040.2
exon_skip_287630	17	27042080:27042140:27042236:27042294:27042473:27042503	27042236:27042294	ENSG00000109113.13	ENST00000395243.3,ENST00000583538.1,ENST00000450529.1
exon_skip_287631	17	27042212:27042232:27042473:27042525:27042658:27042723	27042473:27042525	ENSG00000109113.13	ENST00000422279.2
exon_skip_287632	17	27042277:27042294:27042473:27042525:27042658:27042723	27042473:27042525	ENSG00000109113.13	ENST00000353676.5,ENST00000453384.3,ENST00000395242.2,ENST00000395243.3,ENST00000583538.1,ENST00000395245.3,ENST00000301043.6,ENST00000412625.1,ENST00000447716.1,ENST00000474704.1,ENST00000430132.2,ENST00000436730.3,ENST00000415040.2,ENST00000419712.3,ENS
exon_skip_287634	17	27042658:27042723:27042817:27042919:27043920:27044012	27042817:27042919	ENSG00000109113.13	ENST00000415040.2
exon_skip_287647	17	27042846:27042919:27043010:27043076:27043920:27044012	27043010:27043076	ENSG00000109113.13	ENST00000353676.5,ENST00000395243.3,ENST00000395245.3,ENST00000301043.6,ENST00000412625.1,ENST00000447716.1,ENST00000436730.3,ENST00000419712.3,ENST00000450529.1,ENST00000422279.2
exon_skip_287649	17	27042817:27042919:27043010:27043076:27045139:27045179	27043010:27043076	ENSG00000109113.13	ENST00000430132.2
exon_skip_287650	17	27042846:27042919:27043010:27043079:27043920:27044012	27043010:27043079	ENSG00000109113.13	ENST00000453384.3,ENST00000395242.2
exon_skip_287654	17	27042846:27042919:27043920:27044012:27044230:27044309	27043920:27044012	ENSG00000109113.13	ENST00000415040.2
exon_skip_287667	17	27043060:27043076:27043920:27044012:27044230:27044309	27043920:27044012	ENSG00000109113.13	ENST00000353676.5,ENST00000395243.3,ENST00000395245.3,ENST00000301043.6,ENST00000412625.1,ENST00000447716.1,ENST00000436730.3,ENST00000419712.3,ENST00000450529.1,ENST00000422279.2
exon_skip_287681	17	27043070:27043079:27043920:27044012:27044230:27044309	27043920:27044012	ENSG00000109113.13	ENST00000453384.3,ENST00000395242.2,ENST00000580843.2
exon_skip_287689	17	27043920:27044012:27044230:27044309:27045139:27045179	27044230:27044309	ENSG00000109113.13	ENST00000453384.3,ENST00000436730.3,ENST00000450529.1
exon_skip_287690	17	27043920:27044012:27044230:27044309:27045387:27045447	27044230:27044309	ENSG00000109113.13	ENST00000412625.1
exon_skip_287691	17	27043920:27044012:27044230:27044416:27045139:27045179	27044230:27044416	ENSG00000109113.13	ENST00000419712.3
exon_skip_287693	17	27043920:27044012:27044230:27044443:27045139:27045179	27044230:27044443	ENSG00000109113.13	ENST00000301043.6,ENST00000415040.2,ENST00000482688.1
exon_skip_287695	17	27043920:27044012:27044230:27044611:27045139:27045179	27044230:27044611	ENSG00000109113.13	ENST00000353676.5
exon_skip_287697	17	27043920:27044012:27044230:27044638:27045139:27045179	27044230:27044638	ENSG00000109113.13	ENST00000582934.1
exon_skip_287698	17	27043920:27044012:27044230:27044665:27045139:27045179	27044230:27044665	ENSG00000109113.13	ENST00000580843.2

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for RAB34

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_287622	17	27041690:27041728:27041810:27041918:27042049:27042140	27041810:27041918	ENSG00000109113.13	ENST00000447716.1,ENST00000395243.3,ENST00000301043.6,ENST00000450529.1,ENST00000415040.2,ENST00000484161.1,ENST00000395242.2,ENST00000395245.3,ENST00000436730.3,ENST00000430132.2,ENST00000583538.1
exon_skip_287627	17	27042080:27042140:27042212:27042232:27042473:27042503	27042212:27042232	ENSG00000109113.13	ENST00000422279.2
exon_skip_287628	17	27042080:27042140:27042212:27042294:27042473:27042503	27042212:27042294	ENSG00000109113.13	ENST00000447716.1,ENST00000453384.3,ENST00000301043.6,ENST00000415040.2,ENST00000395242.2,ENST00000395245.3,ENST00000436730.3,ENST00000430132.2,ENST00000353676.5,ENST00000412625.1
exon_skip_287630	17	27042080:27042140:27042236:27042294:27042473:27042503	27042236:27042294	ENSG00000109113.13	ENST00000395243.3,ENST00000450529.1,ENST00000583538.1
exon_skip_287631	17	27042212:27042232:27042473:27042525:27042658:27042723	27042473:27042525	ENSG00000109113.13	ENST00000422279.2
exon_skip_287632	17	27042277:27042294:27042473:27042525:27042658:27042723	27042473:27042525	ENSG00000109113.13	ENST00000447716.1,ENST00000395243.3,ENST00000453384.3,ENST00000301043.6,ENST00000450529.1,ENST00000415040.2,ENST00000395242.2,ENST00000474704.1,ENST00000395245.3,ENST00000436730.3,ENST00000430132.2,ENST00000583538.1,ENST00000353676.5,ENST00000412625.1,ENS
exon_skip_287633	17	27042658:27042723:27042817:27042826:27045139:27045185	27042817:27042826	ENSG00000109113.13	ENST00000583538.1
exon_skip_287634	17	27042658:27042723:27042817:27042919:27043920:27044012	27042817:27042919	ENSG00000109113.13	ENST00000415040.2
exon_skip_287647	17	27042846:27042919:27043010:27043076:27043920:27044012	27043010:27043076	ENSG00000109113.13	ENST00000447716.1,ENST00000395243.3,ENST00000301043.6,ENST00000450529.1,ENST00000422279.2,ENST00000395245.3,ENST00000436730.3,ENST00000353676.5,ENST00000412625.1,ENST00000419712.3
exon_skip_287649	17	27042817:27042919:27043010:27043076:27045139:27045179	27043010:27043076	ENSG00000109113.13	ENST00000430132.2
exon_skip_287650	17	27042846:27042919:27043010:27043079:27043920:27044012	27043010:27043079	ENSG00000109113.13	ENST00000453384.3,ENST00000395242.2
exon_skip_287654	17	27042846:27042919:27043920:27044012:27044230:27044309	27043920:27044012	ENSG00000109113.13	ENST00000415040.2
exon_skip_287667	17	27043060:27043076:27043920:27044012:27044230:27044309	27043920:27044012	ENSG00000109113.13	ENST00000447716.1,ENST00000395243.3,ENST00000301043.6,ENST00000450529.1,ENST00000422279.2,ENST00000395245.3,ENST00000436730.3,ENST00000353676.5,ENST00000412625.1,ENST00000419712.3
exon_skip_287681	17	27043070:27043079:27043920:27044012:27044230:27044309	27043920:27044012	ENSG00000109113.13	ENST00000453384.3,ENST00000395242.2,ENST00000580843.2
exon_skip_287689	17	27043920:27044012:27044230:27044309:27045139:27045179	27044230:27044309	ENSG00000109113.13	ENST00000453384.3,ENST00000450529.1,ENST00000436730.3
exon_skip_287691	17	27043920:27044012:27044230:27044416:27045139:27045179	27044230:27044416	ENSG00000109113.13	ENST00000419712.3
exon_skip_287693	17	27043920:27044012:27044230:27044443:27045139:27045179	27044230:27044443	ENSG00000109113.13	ENST00000301043.6,ENST00000415040.2,ENST00000482688.1
exon_skip_287695	17	27043920:27044012:27044230:27044611:27045139:27045179	27044230:27044611	ENSG00000109113.13	ENST00000353676.5
exon_skip_287697	17	27043920:27044012:27044230:27044638:27045139:27045179	27044230:27044638	ENSG00000109113.13	ENST00000582934.1
exon_skip_287698	17	27043920:27044012:27044230:27044665:27045139:27045179	27044230:27044665	ENSG00000109113.13	ENST00000580843.2

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 RAB34

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
ENST00000301043	27044230	27044443	3UTR-3CDS
ENST00000436730	27044230	27044309	3UTR-3CDS
ENST00000301043	27042212	27042294	Frame-shift
ENST00000395245	27042212	27042294	Frame-shift
ENST00000436730	27042212	27042294	Frame-shift
ENST00000301043	27042473	27042525	Frame-shift
ENST00000395245	27042473	27042525	Frame-shift
ENST00000436730	27042473	27042525	Frame-shift
ENST00000301043	27043920	27044012	Frame-shift
ENST00000395245	27043920	27044012	Frame-shift
ENST00000436730	27043920	27044012	Frame-shift
ENST00000301043	27041810	27041918	In-frame
ENST00000395245	27041810	27041918	In-frame
ENST00000436730	27041810	27041918	In-frame
ENST00000301043	27043010	27043076	In-frame
ENST00000395245	27043010	27043076	In-frame
ENST00000436730	27043010	27043076	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
ENST00000301043	27044230	27044443	3UTR-3CDS
ENST00000436730	27044230	27044309	3UTR-3CDS
ENST00000301043	27042212	27042294	Frame-shift
ENST00000395245	27042212	27042294	Frame-shift
ENST00000436730	27042212	27042294	Frame-shift
ENST00000301043	27042473	27042525	Frame-shift
ENST00000395245	27042473	27042525	Frame-shift
ENST00000436730	27042473	27042525	Frame-shift
ENST00000301043	27043920	27044012	Frame-shift
ENST00000395245	27043920	27044012	Frame-shift
ENST00000436730	27043920	27044012	Frame-shift
ENST00000301043	27041810	27041918	In-frame
ENST00000395245	27041810	27041918	In-frame
ENST00000436730	27041810	27041918	In-frame
ENST00000301043	27043010	27043076	In-frame
ENST00000395245	27043010	27043076	In-frame
ENST00000436730	27043010	27043076	In-frame

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Infer the effects of exon skipping event on protein functional features for RAB34

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
ENST00000301043	1609	198	27043010	27043076	600	665	49	70
ENST00000395245	1753	198	27043010	27043076	774	839	49	70
ENST00000436730	880	198	27043010	27043076	212	277	49	70
ENST00000301043	1609	198	27041810	27041918	1058	1165	201	237
ENST00000395245	1753	198	27041810	27041918	1232	1339	201	237
ENST00000436730	880	198	27041810	27041918	670	777	201	237

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
ENST00000301043	1609	198	27043010	27043076	600	665	49	70
ENST00000395245	1753	198	27043010	27043076	774	839	49	70
ENST00000436730	880	198	27043010	27043076	212	277	49	70
ENST00000301043	1609	198	27041810	27041918	1058	1165	201	237
ENST00000395245	1753	198	27041810	27041918	1232	1339	201	237
ENST00000436730	880	198	27041810	27041918	670	777	201	237

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
P0DI83	49	70	2	198	Chain	ID=PRO_0000412533;Note=Ras-related protein Rab-34%2C isoform NARR
P0DI83	49	70	2	198	Chain	ID=PRO_0000412533;Note=Ras-related protein Rab-34%2C isoform NARR
P0DI83	49	70	2	198	Chain	ID=PRO_0000412533;Note=Ras-related protein Rab-34%2C isoform NARR
P0DI83	49	70	69	69	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	69	69	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	69	69	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	7	125	Region	Note=13 x 9 AA approximate tandem-repeats of P-R-V-I-V-G-(S/T)-P-R
P0DI83	49	70	7	125	Region	Note=13 x 9 AA approximate tandem-repeats of P-R-V-I-V-G-(S/T)-P-R
P0DI83	49	70	7	125	Region	Note=13 x 9 AA approximate tandem-repeats of P-R-V-I-V-G-(S/T)-P-R
P0DI83	49	70	43	51	Repeat	Note=5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	43	51	Repeat	Note=5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	43	51	Repeat	Note=5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	52	60	Repeat	Note=6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	52	60	Repeat	Note=6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	52	60	Repeat	Note=6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	61	69	Repeat	Note=7;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	61	69	Repeat	Note=7;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	61	69	Repeat	Note=7;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	70	78	Repeat	Note=8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	70	78	Repeat	Note=8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	70	78	Repeat	Note=8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586

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
P0DI83	49	70	2	198	Chain	ID=PRO_0000412533;Note=Ras-related protein Rab-34%2C isoform NARR
P0DI83	49	70	2	198	Chain	ID=PRO_0000412533;Note=Ras-related protein Rab-34%2C isoform NARR
P0DI83	49	70	2	198	Chain	ID=PRO_0000412533;Note=Ras-related protein Rab-34%2C isoform NARR
P0DI83	49	70	69	69	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	69	69	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	69	69	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	7	125	Region	Note=13 x 9 AA approximate tandem-repeats of P-R-V-I-V-G-(S/T)-P-R
P0DI83	49	70	7	125	Region	Note=13 x 9 AA approximate tandem-repeats of P-R-V-I-V-G-(S/T)-P-R
P0DI83	49	70	7	125	Region	Note=13 x 9 AA approximate tandem-repeats of P-R-V-I-V-G-(S/T)-P-R
P0DI83	49	70	43	51	Repeat	Note=5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	43	51	Repeat	Note=5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	43	51	Repeat	Note=5;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	52	60	Repeat	Note=6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	52	60	Repeat	Note=6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	52	60	Repeat	Note=6;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	61	69	Repeat	Note=7;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	61	69	Repeat	Note=7;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	61	69	Repeat	Note=7;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	70	78	Repeat	Note=8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	70	78	Repeat	Note=8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586
P0DI83	49	70	70	78	Repeat	Note=8;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:21586586;Dbxref=PMID:21586586

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SNVs in the skipped exons for RAB34

- 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.

RAB34_HNSC_exon_skip_287622_psi_boxplot.png
boxplot

RAB34_STAD_exon_skip_287622_psi_boxplot.png
boxplot

- 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-A39Y-01	exon_skip_287634	27042818	27042919	27042875	27042875	Frame_Shift_Del	C	-	p.G86fs
STAD	TCGA-BR-8680-01	exon_skip_287622	27041811	27041918	27041904	27041904	Nonsense_Mutation	C	A	p.E207*
STAD	TCGA-BR-8680-01	exon_skip_287622	27041811	27041918	27041904	27041904	Nonsense_Mutation	C	A	p.E264X
STAD	TCGA-BR-8591-01	exon_skip_287634	27042818	27042919	27042858	27042858	Nonsense_Mutation	C	A	p.E92*
HNSC	TCGA-CN-6016-01	exon_skip_287634	27042818	27042919	27042864	27042864	Nonsense_Mutation	C	A	p.E90*
LUSC	TCGA-66-2734-01	exon_skip_287634	27042818	27042919	27042864	27042864	Nonsense_Mutation	C	A	p.E147*
BLCA	TCGA-XF-A9SP-01	exon_skip_287667 exon_skip_287654 exon_skip_287681	27043921	27044012	27044000	27044000	Nonsense_Mutation	C	A	p.E23*
UCEC	TCGA-AP-A0LE-01	exon_skip_287622	27041811	27041918	27041810	27041810	Splice_Site	C	T	p.R295_splice
STAD	TCGA-BR-8487-01	exon_skip_287622	27041811	27041918	27041919	27041919	Splice_Site	C	T	.
STAD	TCGA-BR-8487-01	exon_skip_287622	27041811	27041918	27041919	27041919	Splice_Site	C	T	p.G202_splice
HNSC	TCGA-CN-5360-01	exon_skip_287622	27041811	27041918	27041920	27041920	Splice_Site	T	A	p.G202_splice

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-CN-5360-01
	Cancer type: HNSC
	ESID: exon_skip_287622
	Skipped exon start: 27041811
	Skipped exon end: 27041918
	Mutation start: 27041920
	Mutation end: 27041920
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: A
	AAchange: p.G202_splice
exon_skip_287622_HNSC_TCGA-CN-5360-01.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
TEN_ENDOMETRIUM	27042818	27042919	27042877	27042877	Frame_Shift_Del	A	-	p.I85fs
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27041811	27041918	27041820	27041820	Missense_Mutation	C	G	p.D235H
PA1_OVARY	27041811	27041918	27041886	27041886	Missense_Mutation	C	A	p.A213S
HCC2998_LARGE_INTESTINE	27042213	27042294	27042226	27042226	Missense_Mutation	T	G	p.K167T
HCC2998_LARGE_INTESTINE	27042213	27042232	27042226	27042226	Missense_Mutation	T	G	p.K167T
HCC2450_LUNG	27042474	27042525	27042487	27042487	Missense_Mutation	G	C	p.L140V
NCIH187_LUNG	27042818	27042919	27042825	27042825	Missense_Mutation	A	C	p.L103V
SNU1040_LARGE_INTESTINE	27043011	27043079	27043066	27043066	Missense_Mutation	A	T	p.S53T
SNU1040_LARGE_INTESTINE	27043011	27043076	27043066	27043066	Missense_Mutation	A	T	p.S53T
SNU520_STOMACH	27043921	27044012	27043952	27043952	Missense_Mutation	C	T	p.A39T
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27043921	27044012	27043963	27043963	Missense_Mutation	C	T	p.R35H
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27043921	27044012	27043981	27043981	Missense_Mutation	T	C	p.H29R
BICR18_UPPER_AERODIGESTIVE_TRACT	27043921	27044012	27043981	27043981	Missense_Mutation	T	C	p.H29R
SNU175_LARGE_INTESTINE	27043921	27044012	27043982	27043982	Missense_Mutation	G	A	p.H29Y
BICR18_UPPER_AERODIGESTIVE_TRACT	27043921	27044012	27043984	27043984	Missense_Mutation	C	A	p.G28V
BICR18_UPPER_AERODIGESTIVE_TRACT	27043921	27044012	27044005	27044005	Missense_Mutation	C	T	p.R21K
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27044231	27044309	27044266	27044266	Missense_Mutation	C	T	p.V7M
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27044231	27044443	27044266	27044266	Missense_Mutation	C	T	p.V7M
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27044231	27044416	27044266	27044266	Missense_Mutation	C	T	p.V7M
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27044231	27044638	27044266	27044266	Missense_Mutation	C	T	p.V7M
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27044231	27044611	27044266	27044266	Missense_Mutation	C	T	p.V7M
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27044231	27044665	27044266	27044266	Missense_Mutation	C	T	p.V7M
YAMATO_SOFT_TISSUE	27041811	27041918	27041832	27041832	Nonsense_Mutation	G	A	p.R231*
GSS_STOMACH	27041811	27041918	27041832	27041832	Nonsense_Mutation	G	A	p.R231*
HCT15_LARGE_INTESTINE	27042213	27042294	27042269	27042269	Nonsense_Mutation	C	A	p.E153*
HCT15_LARGE_INTESTINE	27042237	27042294	27042269	27042269	Nonsense_Mutation	C	A	p.E153*
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	27042818	27042919	27042855	27042855	Nonsense_Mutation	G	A	p.R93*
PSN1_PANCREAS	27041811	27041918	27041811	27041811	Splice_Site	G	A	p.R238C

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RAB34

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
exon_skip_287697	17	27043920:27044012:27044230:27044638:27045139:27045179	27044230:27044638	ENST00000582934.1	HNSC	rs11545700	chr17:27044482	C/A	6.00e-06
exon_skip_287697	17	27043920:27044012:27044230:27044638:27045139:27045179	27044230:27044638	ENST00000582934.1	PRAD	rs11545700	chr17:27044482	C/A	9.00e-04
exon_skip_287695	17	27043920:27044012:27044230:27044611:27045139:27045179	27044230:27044611	ENST00000353676.5	HNSC	rs11545700	chr17:27044482	C/A	6.00e-06
exon_skip_287695	17	27043920:27044012:27044230:27044611:27045139:27045179	27044230:27044611	ENST00000353676.5	PRAD	rs11545700	chr17:27044482	C/A	9.00e-04
exon_skip_287698	17	27043920:27044012:27044230:27044665:27045139:27045179	27044230:27044665	ENST00000580843.2	HNSC	rs11545700	chr17:27044482	C/A	6.00e-06
exon_skip_287698	17	27043920:27044012:27044230:27044665:27045139:27045179	27044230:27044665	ENST00000580843.2	PRAD	rs11545700	chr17:27044482	C/A	9.00e-04

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAB34

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RAB34

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RelatedDrugs for RAB34

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 RAB34

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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