ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for PAN2

Gene summary

Gene information	Gene symbol	PAN2
	Gene ID	9924
	Gene name	poly(A) specific ribonuclease subunit PAN2
	Synonyms	USP52
	Cytomap	12q13.3
	Type of gene	protein-coding
	Description	PAN2-PAN3 deadenylation complex catalytic subunit PAN2PAB-dependent poly(A)-specific ribonuclease subunit 2PAB-dependent poly(A)-specific ribonuclease subunit PAN2PAB1P-dependent poly(A)-nucleasePAB1P-dependent poly(A)-specific ribonucleasePABP-depen
	Modification date	20180523
	UniProtAcc	Q9HBH5
	Context	PubMed: PAN2 [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

Top

Exon skipping events across known transcript of Ensembl for PAN2 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 PAN2

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

Top

Exon skipping events with PSIs in TCGA for PAN2

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_93613	12	56711384:56711427:56712020:56712218:56712871:56712965	56712020:56712218	ENSG00000135473.10	ENST00000440411.3,ENST00000551359.1,ENST00000425394.2,ENST00000257931.5,ENST00000548043.1,ENST00000547226.1
exon_skip_93614	12	56711384:56711427:56712020:56712218:56713091:56713271	56712020:56712218	ENSG00000135473.10	ENST00000549090.1
exon_skip_93622	12	56712099:56712218:56712871:56712965:56713091:56713273	56712871:56712965	ENSG00000135473.10	ENST00000440411.3,ENST00000425394.2,ENST00000257931.5,ENST00000548043.1,ENST00000547226.1
exon_skip_93624	12	56713739:56713805:56715861:56715952:56716206:56716266	56715861:56715952	ENSG00000135473.10	ENST00000440411.3,ENST00000550028.1,ENST00000551359.1,ENST00000425394.2,ENST00000257931.5,ENST00000548043.1,ENST00000547226.1
exon_skip_93625	12	56717590:56717697:56717820:56717966:56718077:56718178	56717820:56717966	ENSG00000135473.10	ENST00000257931.5
exon_skip_93626	12	56717590:56717697:56717820:56717969:56718077:56718178	56717820:56717969	ENSG00000135473.10	ENST00000425394.2,ENST00000548043.1
exon_skip_93628	12	56717590:56717697:56717832:56717966:56718077:56718178	56717832:56717966	ENSG00000135473.10	ENST00000551359.1
exon_skip_93629	12	56717590:56717697:56717832:56717969:56718077:56718178	56717832:56717969	ENSG00000135473.10	ENST00000440411.3
exon_skip_93631	12	56720096:56720193:56720400:56720743:56721147:56721415	56720400:56720743	ENSG00000135473.10	ENST00000547994.1,ENST00000440411.3,ENST00000551359.1,ENST00000425394.2,ENST00000257931.5,ENST00000548043.1
exon_skip_93637	12	56721314:56721415:56721778:56721856:56722021:56722142	56721778:56721856	ENSG00000135473.10	ENST00000547994.1,ENST00000440411.3,ENST00000547572.1,ENST00000551359.1,ENST00000425394.2,ENST00000257931.5,ENST00000548043.1
exon_skip_93638	12	56722325:56722425:56726596:56726992:56727645:56727760	56726596:56726992	ENSG00000135473.10	ENST00000547994.1,ENST00000440411.3,ENST00000257931.5

PSI values of skipped exons in TCGA.

Top

Exon skipping events with PSIs in GTEx for PAN2

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_93613	12	56711384:56711427:56712020:56712218:56712871:56712965	56712020:56712218	ENSG00000135473.10	ENST00000425394.2,ENST00000551359.1,ENST00000440411.3,ENST00000257931.5,ENST00000547226.1,ENST00000548043.1
exon_skip_93614	12	56711384:56711427:56712020:56712218:56713091:56713271	56712020:56712218	ENSG00000135473.10	ENST00000549090.1
exon_skip_93622	12	56712099:56712218:56712871:56712965:56713091:56713273	56712871:56712965	ENSG00000135473.10	ENST00000425394.2,ENST00000440411.3,ENST00000257931.5,ENST00000547226.1,ENST00000548043.1
exon_skip_93624	12	56713739:56713805:56715861:56715952:56716206:56716266	56715861:56715952	ENSG00000135473.10	ENST00000425394.2,ENST00000551359.1,ENST00000440411.3,ENST00000257931.5,ENST00000547226.1,ENST00000548043.1,ENST00000550028.1
exon_skip_93625	12	56717590:56717697:56717820:56717966:56718077:56718178	56717820:56717966	ENSG00000135473.10	ENST00000257931.5
exon_skip_93626	12	56717590:56717697:56717820:56717969:56718077:56718178	56717820:56717969	ENSG00000135473.10	ENST00000425394.2,ENST00000548043.1
exon_skip_93628	12	56717590:56717697:56717832:56717966:56718077:56718178	56717832:56717966	ENSG00000135473.10	ENST00000551359.1
exon_skip_93629	12	56717590:56717697:56717832:56717969:56718077:56718178	56717832:56717969	ENSG00000135473.10	ENST00000440411.3
exon_skip_93631	12	56720096:56720193:56720400:56720743:56721147:56721415	56720400:56720743	ENSG00000135473.10	ENST00000425394.2,ENST00000551359.1,ENST00000440411.3,ENST00000257931.5,ENST00000548043.1,ENST00000547994.1
exon_skip_93638	12	56722325:56722425:56726596:56726992:56727645:56727760	56726596:56726992	ENSG00000135473.10	ENST00000440411.3,ENST00000257931.5,ENST00000547994.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for PAN2

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
ENST00000425394	56712871	56712965	Frame-shift
ENST00000548043	56712871	56712965	Frame-shift
ENST00000425394	56715861	56715952	Frame-shift
ENST00000548043	56715861	56715952	Frame-shift
ENST00000425394	56717820	56717969	Frame-shift
ENST00000548043	56717820	56717969	Frame-shift
ENST00000425394	56720400	56720743	Frame-shift
ENST00000548043	56720400	56720743	Frame-shift
ENST00000425394	56712020	56712218	In-frame
ENST00000548043	56712020	56712218	In-frame
ENST00000425394	56721778	56721856	In-frame
ENST00000548043	56721778	56721856	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
ENST00000425394	56712871	56712965	Frame-shift
ENST00000548043	56712871	56712965	Frame-shift
ENST00000425394	56715861	56715952	Frame-shift
ENST00000548043	56715861	56715952	Frame-shift
ENST00000425394	56717820	56717969	Frame-shift
ENST00000548043	56717820	56717969	Frame-shift
ENST00000425394	56720400	56720743	Frame-shift
ENST00000548043	56720400	56720743	Frame-shift
ENST00000425394	56712020	56712218	In-frame
ENST00000548043	56712020	56712218	In-frame

Top

Infer the effects of exon skipping event on protein functional features for PAN2

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
ENST00000425394	5389	1202	56721778	56721856	951	1028	191	217
ENST00000548043	4658	1202	56721778	56721856	944	1021	191	217
ENST00000425394	5389	1202	56712020	56712218	3754	3951	1125	1191
ENST00000548043	4658	1202	56712020	56712218	3747	3944	1125	1191

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
ENST00000425394	5389	1202	56712020	56712218	3754	3951	1125	1191
ENST00000548043	4658	1202	56712020	56712218	3747	3944	1125	1191

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
Q504Q3	191	217	1	1202	Chain	ID=PRO_0000280521;Note=PAN2-PAN3 deadenylation complex catalytic subunit PAN2
Q504Q3	191	217	1	1202	Chain	ID=PRO_0000280521;Note=PAN2-PAN3 deadenylation complex catalytic subunit PAN2
Q504Q3	191	217	153	193	Repeat	Note=WD 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|HAMAP-Rule:MF_03182
Q504Q3	191	217	153	193	Repeat	Note=WD 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|HAMAP-Rule:MF_03182
Q504Q3	191	217	195	231	Repeat	Note=WD 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|HAMAP-Rule:MF_03182
Q504Q3	191	217	195	231	Repeat	Note=WD 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|HAMAP-Rule:MF_03182
Q504Q3	1125	1191	1	1202	Chain	ID=PRO_0000280521;Note=PAN2-PAN3 deadenylation complex catalytic subunit PAN2
Q504Q3	1125	1191	1	1202	Chain	ID=PRO_0000280521;Note=PAN2-PAN3 deadenylation complex catalytic subunit PAN2
Q504Q3	1125	1191	975	1147	Domain	Note=Exonuclease;Ontology_term=ECO:0000255;evidence=ECO:0000255\|HAMAP-Rule:MF_03182
Q504Q3	1125	1191	975	1147	Domain	Note=Exonuclease;Ontology_term=ECO:0000255;evidence=ECO:0000255\|HAMAP-Rule:MF_03182
Q504Q3	1125	1191	1139	1139	Metal binding	Note=Divalent metal cation%3B catalytic;Ontology_term=ECO:0000250,ECO:0000255;evidence=ECO:0000250\|UniProtKB:O95453,ECO:0000255\|HAMAP-Rule:MF_03182
Q504Q3	1125	1191	1139	1139	Metal binding	Note=Divalent metal cation%3B catalytic;Ontology_term=ECO:0000250,ECO:0000255;evidence=ECO:0000250\|UniProtKB:O95453,ECO:0000255\|HAMAP-Rule:MF_03182
Q504Q3	1125	1191	1189	1189	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:23186163;Dbxref=PMID:16964243,PMID:23186163
Q504Q3	1125	1191	1189	1189	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:23186163;Dbxref=PMID:16964243,PMID:23186163

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
Q504Q3	1125	1191	1	1202	Chain	ID=PRO_0000280521;Note=PAN2-PAN3 deadenylation complex catalytic subunit PAN2
Q504Q3	1125	1191	1	1202	Chain	ID=PRO_0000280521;Note=PAN2-PAN3 deadenylation complex catalytic subunit PAN2
Q504Q3	1125	1191	975	1147	Domain	Note=Exonuclease;Ontology_term=ECO:0000255;evidence=ECO:0000255\|HAMAP-Rule:MF_03182
Q504Q3	1125	1191	975	1147	Domain	Note=Exonuclease;Ontology_term=ECO:0000255;evidence=ECO:0000255\|HAMAP-Rule:MF_03182
Q504Q3	1125	1191	1139	1139	Metal binding	Note=Divalent metal cation%3B catalytic;Ontology_term=ECO:0000250,ECO:0000255;evidence=ECO:0000250\|UniProtKB:O95453,ECO:0000255\|HAMAP-Rule:MF_03182
Q504Q3	1125	1191	1139	1139	Metal binding	Note=Divalent metal cation%3B catalytic;Ontology_term=ECO:0000250,ECO:0000255;evidence=ECO:0000250\|UniProtKB:O95453,ECO:0000255\|HAMAP-Rule:MF_03182
Q504Q3	1125	1191	1189	1189	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:23186163;Dbxref=PMID:16964243,PMID:23186163
Q504Q3	1125	1191	1189	1189	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:16964243,ECO:0000244\|PubMed:23186163;Dbxref=PMID:16964243,PMID:23186163

Top

SNVs in the skipped exons for PAN2

- 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_93614 exon_skip_93613	56712021	56712218	56712128	56712128	Frame_Shift_Del	T	-	p.N1156fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_93614 exon_skip_93613	56712021	56712218	56712128	56712128	Frame_Shift_Del	T	-	p.N1156fs
LIHC	TCGA-DD-A3A0-01	exon_skip_93614 exon_skip_93613	56712021	56712218	56712201	56712201	Frame_Shift_Del	C	-	p.E1132fs
STAD	TCGA-HU-A4GU-01	exon_skip_93622	56712872	56712965	56712865	56712876	Frame_Shift_Del	AACTCACCCAGA	-	p.1125_1126del
LIHC	TCGA-DD-A3A0-01	exon_skip_93631	56720401	56720743	56720432	56720432	Frame_Shift_Del	A	-	p.W411fs
BLCA	TCGA-G2-A2EC-01	exon_skip_93631	56720401	56720743	56720730	56720730	Frame_Shift_Del	G	-	p.F311fs
LGG	TCGA-FG-5964-01	exon_skip_93637	56721779	56721856	56721813	56721813	Frame_Shift_Del	T	-	p.N206fs
LUAD	TCGA-69-7980-01	exon_skip_93614 exon_skip_93613	56712021	56712218	56712162	56712162	Nonsense_Mutation	G	A	p.Q1145*
HNSC	TCGA-UF-A7JO-01	exon_skip_93622	56712872	56712965	56712917	56712917	Nonsense_Mutation	G	A	p.R1111*
LUAD	TCGA-95-7039-01	exon_skip_93638	56726597	56726992	56726626	56726626	Nonsense_Mutation	C	A	p.E85*

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-69-7980-01
	Cancer type: LUAD
	ESID: exon_skip_93613
	Skipped exon start: 56712021
	Skipped exon end: 56712218
	Mutation start: 56712162
	Mutation end: 56712162
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: A
	AAchange: p.Q1145*
exon_skip_13473_LUAD_TCGA-69-7980-01.png
exon_skip_139222_LUAD_TCGA-69-7980-01.png
exon_skip_27378_LUAD_TCGA-69-7980-01.png
exon_skip_370335_LUAD_TCGA-69-7980-01.png
exon_skip_78884_LUAD_TCGA-69-7980-01.png
exon_skip_93613_LUAD_TCGA-69-7980-01.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
HCC1187_BREAST	56720401	56720743	56720544	56720545	Frame_Shift_Del	CT	-	p.E373fs
HCC1187_MATCHED_NORMAL_TISSUE	56720401	56720743	56720544	56720545	Frame_Shift_Del	CT	-	p.E373fs
WM793_SKIN	56720401	56720743	56720632	56720632	Frame_Shift_Del	G	-	p.A344fs
SNU407_LARGE_INTESTINE	56717833	56717966	56717862	56717862	Missense_Mutation	G	A	p.T679I
SNU407_LARGE_INTESTINE	56717833	56717969	56717862	56717862	Missense_Mutation	G	A	p.T679I
SNU407_LARGE_INTESTINE	56717821	56717966	56717862	56717862	Missense_Mutation	G	A	p.T679I
SNU407_LARGE_INTESTINE	56717821	56717969	56717862	56717862	Missense_Mutation	G	A	p.T679I
CL34_LARGE_INTESTINE	56717833	56717966	56717872	56717872	Missense_Mutation	C	T	p.A676T
CL34_LARGE_INTESTINE	56717833	56717969	56717872	56717872	Missense_Mutation	C	T	p.A676T
CL34_LARGE_INTESTINE	56717821	56717966	56717872	56717872	Missense_Mutation	C	T	p.A676T
CL34_LARGE_INTESTINE	56717821	56717969	56717872	56717872	Missense_Mutation	C	T	p.A676T
COLO320_LARGE_INTESTINE	56717833	56717966	56717885	56717885	Missense_Mutation	A	C	p.S671R
COLO320_LARGE_INTESTINE	56717833	56717969	56717885	56717885	Missense_Mutation	A	C	p.S671R
COLO320_LARGE_INTESTINE	56717821	56717966	56717885	56717885	Missense_Mutation	A	C	p.S671R
COLO320_LARGE_INTESTINE	56717821	56717969	56717885	56717885	Missense_Mutation	A	C	p.S671R
COLO678_LARGE_INTESTINE	56717833	56717966	56717885	56717885	Missense_Mutation	A	C	p.S671R
COLO678_LARGE_INTESTINE	56717833	56717969	56717885	56717885	Missense_Mutation	A	C	p.S671R
COLO678_LARGE_INTESTINE	56717821	56717966	56717885	56717885	Missense_Mutation	A	C	p.S671R
COLO678_LARGE_INTESTINE	56717821	56717969	56717885	56717885	Missense_Mutation	A	C	p.S671R
HCT15_LARGE_INTESTINE	56717833	56717966	56717885	56717885	Missense_Mutation	A	C	p.S671R
HCT15_LARGE_INTESTINE	56717833	56717969	56717885	56717885	Missense_Mutation	A	C	p.S671R
HCT15_LARGE_INTESTINE	56717821	56717966	56717885	56717885	Missense_Mutation	A	C	p.S671R
HCT15_LARGE_INTESTINE	56717821	56717969	56717885	56717885	Missense_Mutation	A	C	p.S671R
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56717833	56717966	56717885	56717885	Missense_Mutation	A	C	p.S671R
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56717833	56717969	56717885	56717885	Missense_Mutation	A	C	p.S671R
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56717821	56717966	56717885	56717885	Missense_Mutation	A	C	p.S671R
NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56717821	56717969	56717885	56717885	Missense_Mutation	A	C	p.S671R
NCIH2052_PLEURA	56717833	56717966	56717885	56717885	Missense_Mutation	A	C	p.S671R
NCIH2052_PLEURA	56717833	56717969	56717885	56717885	Missense_Mutation	A	C	p.S671R
NCIH2052_PLEURA	56717821	56717966	56717885	56717885	Missense_Mutation	A	C	p.S671R
NCIH2052_PLEURA	56717821	56717969	56717885	56717885	Missense_Mutation	A	C	p.S671R
SW1463_LARGE_INTESTINE	56717833	56717966	56717885	56717885	Missense_Mutation	A	C	p.S671R
SW1463_LARGE_INTESTINE	56717833	56717969	56717885	56717885	Missense_Mutation	A	C	p.S671R
SW1463_LARGE_INTESTINE	56717821	56717966	56717885	56717885	Missense_Mutation	A	C	p.S671R
SW1463_LARGE_INTESTINE	56717821	56717969	56717885	56717885	Missense_Mutation	A	C	p.S671R
NCIH2803_PLEURA	56717833	56717966	56717909	56717909	Missense_Mutation	G	T	p.N663K
NCIH2803_PLEURA	56717833	56717969	56717909	56717909	Missense_Mutation	G	T	p.N663K
NCIH2803_PLEURA	56717821	56717966	56717909	56717909	Missense_Mutation	G	T	p.N663K
NCIH2803_PLEURA	56717821	56717969	56717909	56717909	Missense_Mutation	G	T	p.N663K
MCC13_SKIN	56720401	56720743	56720411	56720411	Missense_Mutation	G	A	p.P418S
BT483_BREAST	56720401	56720743	56720450	56720450	Missense_Mutation	C	T	p.D405N
HCC2108_LUNG	56720401	56720743	56720545	56720545	Missense_Mutation	T	A	p.E373V
MORCPR_LUNG	56720401	56720743	56720545	56720545	Missense_Mutation	T	A	p.E373V
NCIH2085_LUNG	56720401	56720743	56720624	56720624	Missense_Mutation	A	G	p.F347L
GB1_CENTRAL_NERVOUS_SYSTEM	56720401	56720743	56720701	56720701	Missense_Mutation	G	C	p.A321G
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56721779	56721856	56721810	56721810	Missense_Mutation	C	T	p.R207H
JHUEM7_ENDOMETRIUM	56721779	56721856	56721811	56721811	Missense_Mutation	G	A	p.R207C
JIMT1_BREAST	56721779	56721856	56721816	56721816	Missense_Mutation	G	T	p.T205K
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56726597	56726992	56726608	56726608	Missense_Mutation	C	T	p.G91R
UMUC5_URINARY_TRACT	56726597	56726992	56726668	56726668	Missense_Mutation	C	T	p.E71K
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56726597	56726992	56726737	56726737	Missense_Mutation	C	T	p.A48T
C33A_CERVIX	56726597	56726992	56726833	56726833	Missense_Mutation	C	T	p.A16T
MDAPCA2B_PROSTATE	56717833	56717966	56717875	56717875	Nonsense_Mutation	G	A	p.R675*
MDAPCA2B_PROSTATE	56717833	56717969	56717875	56717875	Nonsense_Mutation	G	A	p.R675*
MDAPCA2B_PROSTATE	56717821	56717966	56717875	56717875	Nonsense_Mutation	G	A	p.R675*
MDAPCA2B_PROSTATE	56717821	56717969	56717875	56717875	Nonsense_Mutation	G	A	p.R675*
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	56720401	56720743	56720579	56720579	Nonsense_Mutation	C	A	p.E362*

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PAN2

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 PAN2

Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PAN2

Top

RelatedDrugs for PAN2

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
	Q9HBH5	DB00162	Vitamin A	Retinol dehydrogenase 14	small molecule	approved\|nutraceutical\|vet_approved

Top

RelatedDiseases for PAN2

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
PAN2	C0008370	Cholestasis	1	CTD_human
PAN2	C4277682	Chemical and Drug Induced Liver Injury	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

Home

Download

Statistics

Landscape

Help

Contact