ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for HNRNPA2B1

Gene summary

Gene information	Gene symbol	HNRNPA2B1
	Gene ID	3181
	Gene name	heterogeneous nuclear ribonucleoprotein A2/B1
	Synonyms	HNRNPA2\|HNRNPB1\|HNRPA2\|HNRPA2B1\|HNRPB1\|IBMPFD2\|RNPA2\|SNRPB1
	Cytomap	7p15.2
	Type of gene	protein-coding
	Description	heterogeneous nuclear ribonucleoproteins A2/B1HNRNPA2B1/MYC fusionhnRNP A2 / hnRNP B1nuclear ribonucleoprotein particle A2 protein
	Modification date	20180523
	UniProtAcc	P22626
	Context	PubMed: HNRNPA2B1 [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
HNRNPA2B1	GO:0006397	mRNA processing	2557628
HNRNPA2B1	GO:0006406	mRNA export from nucleus	10567417
HNRNPA2B1	GO:0031053	primary miRNA processing	26321680
HNRNPA2B1	GO:0050658	RNA transport	17004321
HNRNPA2B1	GO:1990428	miRNA transport	24356509

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Exon skipping events across known transcript of Ensembl for HNRNPA2B1 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 HNRNPA2B1

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 HNRNPA2B1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_474305	7	26229744:26230080:26230612:26230748:26232114:26232145	26230612:26230748	ENSG00000122566.16	ENST00000360787.4
exon_skip_474324	7	26231920:26231958:26232114:26232197:26232870:26232993	26232114:26232197	ENSG00000122566.16	ENST00000354667.4,ENST00000356674.7,ENST00000490912.1
exon_skip_474328	7	26232114:26232197:26232870:26232993:26233194:26233314	26232870:26232993	ENSG00000122566.16	ENST00000360787.4,ENST00000354667.4,ENST00000463181.1,ENST00000356674.7,ENST00000490912.1
exon_skip_474340	7	26232870:26232993:26233194:26233314:26235466:26235478	26233194:26233314	ENSG00000122566.16	ENST00000360787.4,ENST00000354667.4,ENST00000463181.1,ENST00000356674.7,ENST00000490912.1
exon_skip_474356	7	26233194:26233314:26235466:26235529:26236020:26236101	26235466:26235529	ENSG00000122566.16	ENST00000360787.4,ENST00000354667.4,ENST00000463181.1,ENST00000356674.7,ENST00000490912.1
exon_skip_474362	7	26235466:26235529:26236020:26236101:26236176:26236278	26236020:26236101	ENSG00000122566.16	ENST00000360787.4,ENST00000354667.4,ENST00000463181.1,ENST00000495810.1,ENST00000356674.7,ENST00000490912.1
exon_skip_474365	7	26236020:26236101:26236176:26236278:26236426:26236527	26236176:26236278	ENSG00000122566.16	ENST00000360787.4,ENST00000354667.4,ENST00000463181.1,ENST00000495810.1,ENST00000356674.7,ENST00000490912.1
exon_skip_474368	7	26236426:26236637:26236934:26237081:26237241:26237350	26236934:26237081	ENSG00000122566.16	ENST00000360787.4,ENST00000354667.4,ENST00000463181.1,ENST00000356674.7,ENST00000490912.1
exon_skip_474376	7	26236934:26237081:26237241:26237352:26240191:26240366	26237241:26237352	ENSG00000122566.16	ENST00000356674.7
exon_skip_474385	7	26237333:26237352:26237450:26237486:26240191:26240366	26237450:26237486	ENSG00000122566.16	ENST00000360787.4,ENST00000354667.4

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for HNRNPA2B1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_474305	7	26229744:26230080:26230612:26230748:26232114:26232145	26230612:26230748	ENSG00000122566.16	ENST00000360787.4
exon_skip_474324	7	26231920:26231958:26232114:26232197:26232870:26232993	26232114:26232197	ENSG00000122566.16	ENST00000354667.4,ENST00000356674.7,ENST00000490912.1
exon_skip_474328	7	26232114:26232197:26232870:26232993:26233194:26233314	26232870:26232993	ENSG00000122566.16	ENST00000354667.4,ENST00000360787.4,ENST00000463181.1,ENST00000356674.7,ENST00000490912.1
exon_skip_474340	7	26232870:26232993:26233194:26233314:26235466:26235478	26233194:26233314	ENSG00000122566.16	ENST00000354667.4,ENST00000360787.4,ENST00000463181.1,ENST00000356674.7,ENST00000490912.1
exon_skip_474356	7	26233194:26233314:26235466:26235529:26236020:26236101	26235466:26235529	ENSG00000122566.16	ENST00000354667.4,ENST00000360787.4,ENST00000463181.1,ENST00000356674.7,ENST00000490912.1
exon_skip_474362	7	26235466:26235529:26236020:26236101:26236176:26236278	26236020:26236101	ENSG00000122566.16	ENST00000354667.4,ENST00000360787.4,ENST00000463181.1,ENST00000356674.7,ENST00000490912.1,ENST00000495810.1
exon_skip_474365	7	26236020:26236101:26236176:26236278:26236426:26236527	26236176:26236278	ENSG00000122566.16	ENST00000354667.4,ENST00000360787.4,ENST00000463181.1,ENST00000356674.7,ENST00000490912.1,ENST00000495810.1
exon_skip_474368	7	26236426:26236637:26236934:26237081:26237241:26237350	26236934:26237081	ENSG00000122566.16	ENST00000354667.4,ENST00000360787.4,ENST00000463181.1,ENST00000356674.7,ENST00000490912.1
exon_skip_474376	7	26236934:26237081:26237241:26237352:26240191:26240366	26237241:26237352	ENSG00000122566.16	ENST00000356674.7
exon_skip_474385	7	26237333:26237352:26237450:26237486:26240191:26240366	26237450:26237486	ENSG00000122566.16	ENST00000354667.4,ENST00000360787.4

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 HNRNPA2B1

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
ENST00000354667	26232114	26232197	5CDS-5UTR
ENST00000354667	26232870	26232993	In-frame
ENST00000354667	26233194	26233314	In-frame
ENST00000354667	26235466	26235529	In-frame
ENST00000354667	26236020	26236101	In-frame
ENST00000354667	26236176	26236278	In-frame
ENST00000354667	26236934	26237081	In-frame
ENST00000354667	26237450	26237486	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
ENST00000354667	26232114	26232197	5CDS-5UTR
ENST00000354667	26232870	26232993	In-frame
ENST00000354667	26233194	26233314	In-frame
ENST00000354667	26235466	26235529	In-frame
ENST00000354667	26236020	26236101	In-frame
ENST00000354667	26236176	26236278	In-frame
ENST00000354667	26236934	26237081	In-frame
ENST00000354667	26237450	26237486	In-frame

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Infer the effects of exon skipping event on protein functional features for HNRNPA2B1

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
ENST00000354667	3681	353	26237450	26237486	176	211	2	14
ENST00000354667	3681	353	26236934	26237081	323	469	51	100
ENST00000354667	3681	353	26236176	26236278	681	782	170	204
ENST00000354667	3681	353	26236020	26236101	783	863	204	231
ENST00000354667	3681	353	26235466	26235529	864	926	231	252
ENST00000354667	3681	353	26233194	26233314	927	1046	252	292
ENST00000354667	3681	353	26232870	26232993	1047	1169	292	333

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
ENST00000354667	3681	353	26237450	26237486	176	211	2	14
ENST00000354667	3681	353	26236934	26237081	323	469	51	100
ENST00000354667	3681	353	26236176	26236278	681	782	170	204
ENST00000354667	3681	353	26236020	26236101	783	863	204	231
ENST00000354667	3681	353	26235466	26235529	864	926	231	252
ENST00000354667	3681	353	26233194	26233314	927	1046	252	292
ENST00000354667	3681	353	26232870	26232993	1047	1169	292	333

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
P22626	2	14	3	14	Alternative sequence	ID=VSP_005830;Note=In isoform A2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:2557628;Dbxref=PMID:2557628
P22626	2	14	1	353	Chain	ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1
P22626	2	14	4	4	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P22626	2	14	9	15	Motif	Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P22626	51	100	47	54	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	51	100	61	71	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	51	100	83	86	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X4B
P22626	51	100	92	95	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	51	100	1	353	Chain	ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1
P22626	51	100	21	104	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
P22626	51	100	72	80	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	51	100	99	101	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	51	100	85	85	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:24275569;Dbxref=PMID:19690332,PMID:20068231,PMID:24275569
P22626	51	100	56	58	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	170	204	174	177	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	170	204	180	186	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	170	204	1	353	Chain	ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1
P22626	170	204	202	353	Compositional bias	Note=Gly-rich
P22626	170	204	173	173	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P22626	170	204	186	186	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:25218447;Dbxref=PMID:25218447
P22626	170	204	112	191	Domain	Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
P22626	170	204	173	173	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
P22626	170	204	176	176	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P22626	170	204	189	189	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P22626	170	204	201	201	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P22626	170	204	203	203	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O88569
P22626	170	204	203	203	Modified residue	Note=Dimethylated arginine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.6
P22626	170	204	203	203	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:15782174,ECO:0000244\|PubMed:24129315,ECO:0000269\|Ref.6;Dbxref=PMID:15782174,PMID:24129315
P22626	170	204	193	353	Region	Note=Low complexity (LC) region;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	170	204	190	192	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	204	231	1	353	Chain	ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1
P22626	204	231	202	353	Compositional bias	Note=Gly-rich
P22626	204	231	212	212	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:1
P22626	204	231	213	213	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O88569
P22626	204	231	213	213	Modified residue	Note=Dimethylated arginine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.6
P22626	204	231	213	213	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:24129315,ECO:0000269\|Ref.6;Dbxref=PMID:24129315
P22626	204	231	225	225	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163,PMID
P22626	204	231	228	228	Modified residue	Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
P22626	204	231	231	231	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:24275569
P22626	204	231	207	207	Mutagenesis	Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	204	231	209	209	Mutagenesis	Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	204	231	219	219	Mutagenesis	Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	204	231	227	227	Mutagenesis	Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	204	231	193	353	Region	Note=Low complexity (LC) region;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	204	231	205	205	Sequence conflict	Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P22626	231	252	1	353	Chain	ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1
P22626	231	252	202	353	Compositional bias	Note=Gly-rich
P22626	231	252	231	231	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:24275569
P22626	231	252	236	236	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:21406692;Dbxref=PMID:21406692
P22626	231	252	238	238	Modified residue	Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
P22626	231	252	234	234	Mutagenesis	Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	231	252	240	240	Mutagenesis	Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	231	252	244	244	Mutagenesis	Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	231	252	247	247	Mutagenesis	Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	231	252	193	353	Region	Note=Low complexity (LC) region;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	1	353	Chain	ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1
P22626	252	292	202	353	Compositional bias	Note=Gly-rich
P22626	252	292	259	259	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17924679,ECO:0000244\|PubMed:18220336,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:18
P22626	252	292	266	266	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:A7VJC2
P22626	252	292	266	266	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
P22626	252	292	256	256	Mutagenesis	Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	262	262	Mutagenesis	Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	269	269	Mutagenesis	Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	276	276	Mutagenesis	Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	283	283	Mutagenesis	Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	287	287	Mutagenesis	Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	290	290	Mutagenesis	Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	193	353	Region	Note=Low complexity (LC) region;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	1	353	Chain	ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1
P22626	292	333	202	353	Compositional bias	Note=Gly-rich
P22626	292	333	324	324	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163
P22626	292	333	325	325	Modified residue	Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
P22626	292	333	331	331	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163
P22626	292	333	295	295	Mutagenesis	Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	300	300	Mutagenesis	Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	303	303	Mutagenesis	Note=Impairs hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	306	306	Mutagenesis	Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	313	313	Mutagenesis	Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	321	321	Mutagenesis	Note=Impairs hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	331	331	Mutagenesis	Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	302	302	Natural variant	ID=VAR_070591;Note=In IBMPFD2. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23455423;Dbxref=dbSNP:rs397515326,PMID:23455423
P22626	292	333	193	353	Region	Note=Low complexity (LC) region;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	308	347	Region	Note=Nuclear targeting sequence;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
P22626	2	14	3	14	Alternative sequence	ID=VSP_005830;Note=In isoform A2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:2557628;Dbxref=PMID:2557628
P22626	2	14	1	353	Chain	ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1
P22626	2	14	4	4	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P22626	2	14	9	15	Motif	Note=Nuclear localization signal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P22626	51	100	47	54	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	51	100	61	71	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	51	100	83	86	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1X4B
P22626	51	100	92	95	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	51	100	1	353	Chain	ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1
P22626	51	100	21	104	Domain	Note=RRM 1;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
P22626	51	100	72	80	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	51	100	99	101	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	51	100	85	85	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:24275569;Dbxref=PMID:19690332,PMID:20068231,PMID:24275569
P22626	51	100	56	58	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	170	204	174	177	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	170	204	180	186	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	170	204	1	353	Chain	ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1
P22626	170	204	202	353	Compositional bias	Note=Gly-rich
P22626	170	204	173	173	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:28112733;Dbxref=PMID:28112733
P22626	170	204	186	186	Cross-link	Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:25218447;Dbxref=PMID:25218447
P22626	170	204	112	191	Domain	Note=RRM 2;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00176
P22626	170	204	173	173	Modified residue	Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:19608861;Dbxref=PMID:19608861
P22626	170	204	176	176	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P22626	170	204	189	189	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P22626	170	204	201	201	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:23186163;Dbxref=PMID:23186163
P22626	170	204	203	203	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O88569
P22626	170	204	203	203	Modified residue	Note=Dimethylated arginine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.6
P22626	170	204	203	203	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:15782174,ECO:0000244\|PubMed:24129315,ECO:0000269\|Ref.6;Dbxref=PMID:15782174,PMID:24129315
P22626	170	204	193	353	Region	Note=Low complexity (LC) region;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	170	204	190	192	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5HO4
P22626	204	231	1	353	Chain	ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1
P22626	204	231	202	353	Compositional bias	Note=Gly-rich
P22626	204	231	212	212	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:19690332,ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:1
P22626	204	231	213	213	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:O88569
P22626	204	231	213	213	Modified residue	Note=Dimethylated arginine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.6
P22626	204	231	213	213	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:24129315,ECO:0000269\|Ref.6;Dbxref=PMID:24129315
P22626	204	231	225	225	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:23186163,PMID
P22626	204	231	228	228	Modified residue	Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
P22626	204	231	231	231	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:24275569
P22626	204	231	207	207	Mutagenesis	Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	204	231	209	209	Mutagenesis	Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	204	231	219	219	Mutagenesis	Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	204	231	227	227	Mutagenesis	Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	204	231	193	353	Region	Note=Low complexity (LC) region;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	204	231	205	205	Sequence conflict	Note=G->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P22626	231	252	1	353	Chain	ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1
P22626	231	252	202	353	Compositional bias	Note=Gly-rich
P22626	231	252	231	231	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:20068231,ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:24275569;Dbxref=PMID:20068231,PMID:21406692,PMID:24275569
P22626	231	252	236	236	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:21406692;Dbxref=PMID:21406692
P22626	231	252	238	238	Modified residue	Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
P22626	231	252	234	234	Mutagenesis	Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	231	252	240	240	Mutagenesis	Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	231	252	244	244	Mutagenesis	Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	231	252	247	247	Mutagenesis	Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	231	252	193	353	Region	Note=Low complexity (LC) region;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	1	353	Chain	ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1
P22626	252	292	202	353	Compositional bias	Note=Gly-rich
P22626	252	292	259	259	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:17924679,ECO:0000244\|PubMed:18220336,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:18
P22626	252	292	266	266	Modified residue	Note=Asymmetric dimethylarginine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:A7VJC2
P22626	252	292	266	266	Modified residue	Note=Omega-N-methylarginine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
P22626	252	292	256	256	Mutagenesis	Note=Does not affect hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	262	262	Mutagenesis	Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	269	269	Mutagenesis	Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	276	276	Mutagenesis	Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	283	283	Mutagenesis	Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	287	287	Mutagenesis	Note=Does not affect hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	290	290	Mutagenesis	Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	252	292	193	353	Region	Note=Low complexity (LC) region;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	1	353	Chain	ID=PRO_0000081836;Note=Heterogeneous nuclear ribonucleoproteins A2/B1
P22626	292	333	202	353	Compositional bias	Note=Gly-rich
P22626	292	333	324	324	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163
P22626	292	333	325	325	Modified residue	Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:24129315;Dbxref=PMID:24129315
P22626	292	333	331	331	Modified residue	Note=Phosphotyrosine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244\|PubMed:21406692,ECO:0000244\|PubMed:23186163;Dbxref=PMID:21406692,PMID:23186163
P22626	292	333	295	295	Mutagenesis	Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	300	300	Mutagenesis	Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	303	303	Mutagenesis	Note=Impairs hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	306	306	Mutagenesis	Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	313	313	Mutagenesis	Note=Slightly affects hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	321	321	Mutagenesis	Note=Impairs hydrogel-binding. F->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	331	331	Mutagenesis	Note=Impairs hydrogel-binding. Y->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	302	302	Natural variant	ID=VAR_070591;Note=In IBMPFD2. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23455423;Dbxref=dbSNP:rs397515326,PMID:23455423
P22626	292	333	193	353	Region	Note=Low complexity (LC) region;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26544936;Dbxref=PMID:26544936
P22626	292	333	308	347	Region	Note=Nuclear targeting sequence;Ontology_term=ECO:0000250;evidence=ECO:0000250

Top

SNVs in the skipped exons for HNRNPA2B1

- 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.

HNRNPA2B1_BRCA_exon_skip_474340_psi_boxplot.png
boxplot

HNRNPA2B1_HNSC_exon_skip_474328_psi_boxplot.png
boxplot

HNRNPA2B1_LIHC_exon_skip_474328_psi_boxplot.png
boxplot

HNRNPA2B1_STAD_exon_skip_474328_psi_boxplot.png
boxplot

HNRNPA2B1_STAD_exon_skip_474340_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-G3-A3CJ-01	exon_skip_474328	26232871	26232993	26232885	26232885	Frame_Shift_Del	C	-	p.G329fs
LIHC	TCGA-DD-A39Y-01	exon_skip_474368	26236935	26237081	26236971	26236971	Frame_Shift_Del	C	-	p.G88fs
LIHC	TCGA-DD-A39Y-01	exon_skip_474376	26237242	26237352	26237285	26237285	Frame_Shift_Del	A	-	p.L37fs
HNSC	TCGA-CR-7364-01	exon_skip_474328	26232871	26232993	26232884	26232885	Frame_Shift_Ins	-	C	p.A329fs
HNSC	TCGA-CR-7364-01	exon_skip_474328	26232871	26232993	26232884	26232885	Frame_Shift_Ins	-	C	p.G329fs
STAD	TCGA-F1-6177-01	exon_skip_474328	26232871	26232993	26232884	26232885	Frame_Shift_Ins	-	C	p.G329fs
STAD	TCGA-B7-A5TI-01	exon_skip_474324	26232115	26232197	26232144	26232144	Nonsense_Mutation	G	A	p.R352*
STAD	TCGA-B7-A5TI-01	exon_skip_474324	26232115	26232197	26232144	26232144	Nonsense_Mutation	G	A	p.R352X
BRCA	TCGA-A8-A07G-01	exon_skip_474340	26233195	26233314	26233303	26233303	Nonsense_Mutation	C	A	p.G257*
UCEC	TCGA-BS-A0UV-01	exon_skip_474328	26232871	26232993	26232994	26232994	Splice_Site	C	T	e10-1
UCEC	TCGA-A5-A0GB-01	exon_skip_474328	26232871	26232993	26232995	26232995	Splice_Site	T	C	e10-2
UCEC	TCGA-A5-A0GB-01	exon_skip_474328	26232871	26232993	26232995	26232995	Splice_Site	T	C	p.G293_splice
STAD	TCGA-MX-A5UJ-01	exon_skip_474340	26233195	26233314	26233316	26233316	Splice_Site	T	C	.
GBM	TCGA-06-0155-01	exon_skip_474365	26236177	26236278	26236176	26236178	Splice_Site	CCT	-	p.G205_splice
COAD	TCGA-AZ-4615-01	exon_skip_474385	26237451	26237486	26237488	26237489	Splice_Site	-	G	.

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

Depth of coverage in three exons	Mutation description
	Sample: TCGA-AZ-4615-01
	Cancer type: COAD
	ESID: exon_skip_474385
	Skipped exon start: 26237451
	Skipped exon end: 26237486
	Mutation start: 26237488
	Mutation end: 26237489
	Mutation type: Splice_Site
	Reference seq: -
	Mutation seq: G
	AAchange: .
exon_skip_150654_COAD_TCGA-AZ-4615-01.png
exon_skip_474385_COAD_TCGA-AZ-4615-01.png
exon_skip_504288_COAD_TCGA-AZ-4615-01.png
exon_skip_78356_COAD_TCGA-AZ-4615-01.png
exon_skip_78375_COAD_TCGA-AZ-4615-01.png
exon_skip_78386_COAD_TCGA-AZ-4615-01.png
	Sample: TCGA-MX-A5UJ-01
	Cancer type: STAD
	ESID: exon_skip_474340
	Skipped exon start: 26233195
	Skipped exon end: 26233314
	Mutation start: 26233316
	Mutation end: 26233316
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: .
exon_skip_135418_STAD_TCGA-MX-A5UJ-01.png
exon_skip_25303_STAD_TCGA-MX-A5UJ-01.png
exon_skip_302981_STAD_TCGA-MX-A5UJ-01.png
exon_skip_322889_STAD_TCGA-MX-A5UJ-01.png
exon_skip_322890_STAD_TCGA-MX-A5UJ-01.png
exon_skip_370065_STAD_TCGA-MX-A5UJ-01.png
exon_skip_437025_STAD_TCGA-MX-A5UJ-01.png
exon_skip_439048_STAD_TCGA-MX-A5UJ-01.png
exon_skip_442836_STAD_TCGA-MX-A5UJ-01.png
exon_skip_443160_STAD_TCGA-MX-A5UJ-01.png
exon_skip_458347_STAD_TCGA-MX-A5UJ-01.png
exon_skip_461292_STAD_TCGA-MX-A5UJ-01.png
exon_skip_474340_STAD_TCGA-MX-A5UJ-01.png
exon_skip_69055_STAD_TCGA-MX-A5UJ-01.png
exon_skip_77217_STAD_TCGA-MX-A5UJ-01.png
exon_skip_83002_STAD_TCGA-MX-A5UJ-01.png
	Sample: TCGA-A8-A07G-01
	Cancer type: BRCA
	ESID: exon_skip_474340
	Skipped exon start: 26233195
	Skipped exon end: 26233314
	Mutation start: 26233303
	Mutation end: 26233303
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: A
	AAchange: p.G257*
exon_skip_474340_BRCA_TCGA-A8-A07G-01.png
	Sample: TCGA-A5-A0GB-01
	Cancer type: UCEC
	ESID: exon_skip_474328
	Skipped exon start: 26232871
	Skipped exon end: 26232993
	Mutation start: 26232995
	Mutation end: 26232995
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: p.G293_splice
	Sample: TCGA-A5-A0GB-01
	Cancer type: UCEC
	ESID: exon_skip_474328
	Skipped exon start: 26232871
	Skipped exon end: 26232993
	Mutation start: 26232995
	Mutation end: 26232995
	Mutation type: Splice_Site
	Reference seq: T
	Mutation seq: C
	AAchange: e10-2
exon_skip_370946_UCEC_TCGA-A5-A0GB-01.png
exon_skip_433949_UCEC_TCGA-A5-A0GB-01.png
exon_skip_452233_UCEC_TCGA-A5-A0GB-01.png
exon_skip_474328_UCEC_TCGA-A5-A0GB-01.png
	Sample: TCGA-BS-A0UV-01
	Cancer type: UCEC
	ESID: exon_skip_474328
	Skipped exon start: 26232871
	Skipped exon end: 26232993
	Mutation start: 26232994
	Mutation end: 26232994
	Mutation type: Splice_Site
	Reference seq: C
	Mutation seq: T
	AAchange: e10-1
exon_skip_121518_UCEC_TCGA-BS-A0UV-01.png
exon_skip_331787_UCEC_TCGA-BS-A0UV-01.png
exon_skip_336814_UCEC_TCGA-BS-A0UV-01.png
exon_skip_376191_UCEC_TCGA-BS-A0UV-01.png
exon_skip_428559_UCEC_TCGA-BS-A0UV-01.png
exon_skip_434353_UCEC_TCGA-BS-A0UV-01.png
exon_skip_442836_UCEC_TCGA-BS-A0UV-01.png
exon_skip_474328_UCEC_TCGA-BS-A0UV-01.png
exon_skip_517296_UCEC_TCGA-BS-A0UV-01.png
exon_skip_59253_UCEC_TCGA-BS-A0UV-01.png
exon_skip_99140_UCEC_TCGA-BS-A0UV-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
HEC265_ENDOMETRIUM	26236935	26237081	26236953	26236953	Frame_Shift_Del	T	-	p.K94fs
IM95_STOMACH	26233195	26233314	26233271	26233272	Frame_Shift_Ins	-	C	p.G267fs
T24_URINARY_TRACT	26236021	26236101	26236043	26236048	In_Frame_Del	TCCTGG	-	p.PG223del
GOTO_AUTONOMIC_GANGLIA	26236021	26236101	26236043	26236048	In_Frame_Del	TCCTGG	-	p.PG223del
ACCS_URINARY_TRACT	26236021	26236101	26236043	26236048	In_Frame_Del	TCCTGG	-	p.PG223del
CAL120_BREAST	26232115	26232197	26232143	26232143	Missense_Mutation	C	T	p.R352Q
LS411N_LARGE_INTESTINE	26232115	26232197	26232191	26232191	Missense_Mutation	T	C	p.Y336C
LC41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26232871	26232993	26232962	26232962	Missense_Mutation	A	T	p.F303L
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26232871	26232993	26232975	26232975	Missense_Mutation	T	C	p.N299S
BICR18_UPPER_AERODIGESTIVE_TRACT	26232871	26232993	26232975	26232975	Missense_Mutation	T	C	p.N299S
S117_SOFT_TISSUE	26232871	26232993	26232975	26232975	Missense_Mutation	T	C	p.N299S
HCC1569_BREAST	26235467	26235529	26235512	26235512	Missense_Mutation	G	A	p.R238C
EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26236021	26236101	26236050	26236050	Missense_Mutation	C	A	p.G222V
HEC251_ENDOMETRIUM	26236021	26236101	26236063	26236063	Missense_Mutation	T	A	p.N218Y
CHSA0108_BONE	26236021	26236101	26236065	26236065	Missense_Mutation	C	T	p.G217E
NCIH630_LARGE_INTESTINE	26236935	26237081	26237005	26237005	Missense_Mutation	G	A	p.A77V
CAL148_BREAST	26237451	26237486	26237460	26237460	Missense_Mutation	C	G	p.E11D
DV90_LUNG	26232115	26232197	26232190	26232190	Nonsense_Mutation	A	C	p.Y336*
NCIH650_LUNG	26236021	26236101	26236045	26236045	Nonsense_Mutation	C	A	p.G224*
201T_LUNG	26236021	26236101	26236022	26236022	Splice_Site	A	G	p.S231S
HMEL_BREAST	26236177	26236278	26236101	26236175	Splice_Site	CCTACAATAAATGCCCCAGTTAGAAGCAAGCCCTTATATATGAACAAAAATAAAGAAGAAACAGAATTAAAATTA	-	p.V205del
HMEL_BREAST	26236021	26236101	26236101	26236175	Splice_Site	CCTACAATAAATGCCCCAGTTAGAAGCAAGCCCTTATATATGAACAAAAATAAAGAAGAAACAGAATTAAAATTA	-	p.V205del
HS706T_BONE	26236177	26236278	26236101	26236175	Splice_Site	CCTACAATAAATGCCCCAGTTAGAAGCAAGCCCTTATATATGAACAAAAATAAAGAAGAAACAGAATTAAAATTA	-	p.V205del
HS706T_BONE	26236021	26236101	26236101	26236175	Splice_Site	CCTACAATAAATGCCCCAGTTAGAAGCAAGCCCTTATATATGAACAAAAATAAAGAAGAAACAGAATTAAAATTA	-	p.V205del
SUPT11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26236177	26236278	26236101	26236175	Splice_Site	CCTACAATAAATGCCCCAGTTAGAAGCAAGCCCTTATATATGAACAAAAATAAAGAAGAAACAGAATTAAAATTA	-	p.V205del
SUPT11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	26236021	26236101	26236101	26236175	Splice_Site	CCTACAATAAATGCCCCAGTTAGAAGCAAGCCCTTATATATGAACAAAAATAAAGAAGAAACAGAATTAAAATTA	-	p.V205del
TE6_OESOPHAGUS	26236177	26236278	26236101	26236175	Splice_Site	CCTACAATAAATGCCCCAGTTAGAAGCAAGCCCTTATATATGAACAAAAATAAAGAAGAAACAGAATTAAAATTA	-	p.V205del
TE6_OESOPHAGUS	26236021	26236101	26236101	26236175	Splice_Site	CCTACAATAAATGCCCCAGTTAGAAGCAAGCCCTTATATATGAACAAAAATAAAGAAGAAACAGAATTAAAATTA	-	p.V205del
YD15_SALIVARY_GLAND	26236177	26236278	26236101	26236175	Splice_Site	CCTACAATAAATGCCCCAGTTAGAAGCAAGCCCTTATATATGAACAAAAATAAAGAAGAAACAGAATTAAAATTA	-	p.V205del
YD15_SALIVARY_GLAND	26236021	26236101	26236101	26236175	Splice_Site	CCTACAATAAATGCCCCAGTTAGAAGCAAGCCCTTATATATGAACAAAAATAAAGAAGAAACAGAATTAAAATTA	-	p.V205del

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HNRNPA2B1

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 HNRNPA2B1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HNRNPA2B1

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RelatedDrugs for HNRNPA2B1

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 HNRNPA2B1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
HNRNPA2B1	C0023493	Adult T-Cell Lymphoma/Leukemia	1	CTD_human
HNRNPA2B1	C3809468	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2	1	UNIPROT

	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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