ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for IGF2R

Gene summary

Gene information	Gene symbol	IGF2R
	Gene ID	3482
	Gene name	insulin like growth factor 2 receptor
	Synonyms	CD222\|CI-M6PR\|CIMPR\|M6P-R\|M6P/IGF2R\|MPR 300\|MPR1\|MPR300\|MPRI
	Cytomap	6q25.3
	Type of gene	protein-coding
	Description	cation-independent mannose-6-phosphate receptor300 kDa mannose 6-phosphate receptorCI Man-6-P receptorIGF-II receptorM6P/IGF2 receptorinsulin-like growth factor II receptor
	Modification date	20180527
	UniProtAcc	P11717
	Context	PubMed: IGF2R [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

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Exon skipping events across known transcript of Ensembl for IGF2R 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 IGF2R

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 IGF2R

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_455222	6	160448216:160448346:160450581:160450687:160453582:160453745	160450581:160450687	ENSG00000197081.8	ENST00000356956.1
exon_skip_455223	6	160453973:160454139:160455450:160455554:160461591:160461756	160455450:160455554	ENSG00000197081.8	ENST00000356956.1
exon_skip_455224	6	160461591:160461756:160464179:160464320:160465545:160465689	160464179:160464320	ENSG00000197081.8	ENST00000356956.1
exon_skip_455225	6	160464179:160464320:160465545:160465689:160466776:160466914	160465545:160465689	ENSG00000197081.8	ENST00000356956.1
exon_skip_455226	6	160465545:160465689:160466776:160466914:160467529:160467677	160466776:160466914	ENSG00000197081.8	ENST00000356956.1
exon_skip_455228	6	160479937:160480130:160481578:160481749:160482534:160482678	160481578:160481749	ENSG00000197081.8	ENST00000356956.1
exon_skip_455230	6	160483563:160483651:160484446:160484662:160485432:160485563	160484446:160484662	ENSG00000197081.8	ENST00000356956.1
exon_skip_455231	6	160484446:160484662:160485432:160485563:160485835:160485933	160485432:160485563	ENSG00000197081.8	ENST00000356956.1
exon_skip_455232	6	160485432:160485563:160485835:160485933:160489280:160489417	160485835:160485933	ENSG00000197081.8	ENST00000356956.1
exon_skip_455236	6	160492941:160493068:160493796:160493916:160494244:160494501	160493796:160493916	ENSG00000197081.8	ENST00000356956.1
exon_skip_455237	6	160493796:160493916:160494244:160494501:160494788:160495007	160494244:160494501	ENSG00000197081.8	ENST00000356956.1
exon_skip_455238	6	160496878:160497028:160499232:160499394:160500611:160500819	160499232:160499394	ENSG00000197081.8	ENST00000356956.1
exon_skip_455241	6	160506092:160506163:160509064:160509179:160510138:160510285	160509064:160509179	ENSG00000197081.8	ENST00000356956.1,ENST00000475834.1
exon_skip_455242	6	160510947:160511135:160517470:160517657:160523550:160523703	160517470:160517657	ENSG00000197081.8	ENST00000356956.1
exon_skip_455243	6	160517478:160517657:160523550:160523703:160524777:160524847	160523550:160523703	ENSG00000197081.8	ENST00000356956.1,ENST00000475584.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for IGF2R

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_455222	6	160448216:160448346:160450581:160450687:160453582:160453745	160450581:160450687	ENSG00000197081.8	ENST00000356956.1
exon_skip_455223	6	160453973:160454139:160455450:160455554:160461591:160461756	160455450:160455554	ENSG00000197081.8	ENST00000356956.1
exon_skip_455224	6	160461591:160461756:160464179:160464320:160465545:160465689	160464179:160464320	ENSG00000197081.8	ENST00000356956.1
exon_skip_455225	6	160464179:160464320:160465545:160465689:160466776:160466914	160465545:160465689	ENSG00000197081.8	ENST00000356956.1
exon_skip_455226	6	160465545:160465689:160466776:160466914:160467529:160467677	160466776:160466914	ENSG00000197081.8	ENST00000356956.1
exon_skip_455228	6	160479937:160480130:160481578:160481749:160482534:160482678	160481578:160481749	ENSG00000197081.8	ENST00000356956.1
exon_skip_455230	6	160483563:160483651:160484446:160484662:160485432:160485563	160484446:160484662	ENSG00000197081.8	ENST00000356956.1
exon_skip_455231	6	160484446:160484662:160485432:160485563:160485835:160485933	160485432:160485563	ENSG00000197081.8	ENST00000356956.1
exon_skip_455232	6	160485432:160485563:160485835:160485933:160489280:160489417	160485835:160485933	ENSG00000197081.8	ENST00000356956.1
exon_skip_455236	6	160492941:160493068:160493796:160493916:160494244:160494501	160493796:160493916	ENSG00000197081.8	ENST00000356956.1
exon_skip_455237	6	160493796:160493916:160494244:160494501:160494788:160495007	160494244:160494501	ENSG00000197081.8	ENST00000356956.1
exon_skip_455238	6	160496878:160497028:160499232:160499394:160500611:160500819	160499232:160499394	ENSG00000197081.8	ENST00000356956.1
exon_skip_455241	6	160506092:160506163:160509064:160509179:160510138:160510285	160509064:160509179	ENSG00000197081.8	ENST00000356956.1,ENST00000475834.1
exon_skip_455242	6	160510947:160511135:160517470:160517657:160523550:160523703	160517470:160517657	ENSG00000197081.8	ENST00000356956.1
exon_skip_455243	6	160517478:160517657:160523550:160523703:160524777:160524847	160523550:160523703	ENSG00000197081.8	ENST00000356956.1,ENST00000475584.1
exon_skip_455244	6	160524777:160524847:160533596:160533705:160534453:160534539	160533596:160533705	ENSG00000197081.8	ENST00000475584.1

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 IGF2R

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
ENST00000356956	160450581	160450687	Frame-shift
ENST00000356956	160455450	160455554	Frame-shift
ENST00000356956	160485432	160485563	Frame-shift
ENST00000356956	160485835	160485933	Frame-shift
ENST00000356956	160494244	160494501	Frame-shift
ENST00000356956	160509064	160509179	Frame-shift
ENST00000356956	160517470	160517657	Frame-shift
ENST00000356956	160464179	160464320	In-frame
ENST00000356956	160465545	160465689	In-frame
ENST00000356956	160466776	160466914	In-frame
ENST00000356956	160481578	160481749	In-frame
ENST00000356956	160484446	160484662	In-frame
ENST00000356956	160493796	160493916	In-frame
ENST00000356956	160499232	160499394	In-frame
ENST00000356956	160523550	160523703	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
ENST00000356956	160450581	160450687	Frame-shift
ENST00000356956	160455450	160455554	Frame-shift
ENST00000356956	160485432	160485563	Frame-shift
ENST00000356956	160485835	160485933	Frame-shift
ENST00000356956	160494244	160494501	Frame-shift
ENST00000356956	160509064	160509179	Frame-shift
ENST00000356956	160517470	160517657	Frame-shift
ENST00000356956	160464179	160464320	In-frame
ENST00000356956	160465545	160465689	In-frame
ENST00000356956	160466776	160466914	In-frame
ENST00000356956	160481578	160481749	In-frame
ENST00000356956	160484446	160484662	In-frame
ENST00000356956	160493796	160493916	In-frame
ENST00000356956	160499232	160499394	In-frame
ENST00000356956	160523550	160523703	In-frame

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Infer the effects of exon skipping event on protein functional features for IGF2R

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
ENST00000356956	9108	2491	160464179	160464320	1629	1769	493	540
ENST00000356956	9108	2491	160465545	160465689	1770	1913	540	588
ENST00000356956	9108	2491	160466776	160466914	1914	2051	588	634
ENST00000356956	9108	2491	160481578	160481749	3240	3410	1030	1087
ENST00000356956	9108	2491	160484446	160484662	3819	4034	1223	1295
ENST00000356956	9108	2491	160493796	160493916	4719	4838	1523	1563
ENST00000356956	9108	2491	160499232	160499394	5465	5626	1772	1826
ENST00000356956	9108	2491	160523550	160523703	6991	7143	2281	2331

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
ENST00000356956	9108	2491	160464179	160464320	1629	1769	493	540
ENST00000356956	9108	2491	160465545	160465689	1770	1913	540	588
ENST00000356956	9108	2491	160466776	160466914	1914	2051	588	634
ENST00000356956	9108	2491	160481578	160481749	3240	3410	1030	1087
ENST00000356956	9108	2491	160484446	160484662	3819	4034	1223	1295
ENST00000356956	9108	2491	160493796	160493916	4719	4838	1523	1563
ENST00000356956	9108	2491	160499232	160499394	5465	5626	1772	1826
ENST00000356956	9108	2491	160523550	160523703	6991	7143	2281	2331

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
P11717	493	540	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	493	540	512	512	Natural variant	ID=VAR_021307;Note=K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.5;Dbxref=dbSNP:rs8191776
P11717	493	540	529	529	Natural variant	ID=VAR_020472;Note=R->Q;Dbxref=dbSNP:rs6413489
P11717	493	540	490	643	Repeat	Note=4
P11717	493	540	510	510	Sequence conflict	Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
P11717	493	540	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	540	588	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	540	588	543	543	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	540	588	581	581	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12754519;Dbxref=PMID:12754519
P11717	540	588	490	643	Repeat	Note=4
P11717	540	588	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	588	634	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	588	634	627	664	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00479
P11717	588	634	626	626	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P11717	588	634	604	604	Natural variant	ID=VAR_020473;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.5;Dbxref=dbSNP:rs8191797
P11717	588	634	490	643	Repeat	Note=4
P11717	588	634	612	612	Sequence conflict	Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P11717	588	634	612	612	Sequence conflict	Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P11717	588	634	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	1030	1087	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	1030	1087	951	1099	Repeat	Note=7
P11717	1030	1087	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	1223	1295	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	1223	1295	1246	1246	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12754519;Dbxref=PMID:12754519
P11717	1223	1295	1254	1254	Natural variant	ID=VAR_050428;Note=E->A;Dbxref=dbSNP:rs2230043
P11717	1223	1295	1100	1243	Repeat	Note=8
P11717	1223	1295	1244	1384	Repeat	Note=9
P11717	1223	1295	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	1523	1563	1526	1528	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	1533	1536	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	1538	1542	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	1546	1550	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	1552	1554	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	1558	1560	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2L2A
P11717	1523	1563	1563	1567	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	1523	1563	1516	1553	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00479,ECO:0000269\|PubMed:18046459;Dbxref=PMID:18046459
P11717	1523	1563	1559	1566	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00479,ECO:0000269\|PubMed:18046459;Dbxref=PMID:18046459
P11717	1523	1563	1530	1532	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	1385	1532	Repeat	Note=10
P11717	1523	1563	1533	1666	Repeat	Note=11
P11717	1523	1563	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	1523	1563	1521	1523	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	1543	1545	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1772	1826	1775	1777	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1784	1791	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1805	1807	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1814	1816	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1825	1829	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	1772	1826	1750	1783	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00479,ECO:0000269\|PubMed:18046459;Dbxref=PMID:18046459
P11717	1772	1826	1766	1795	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00479,ECO:0000269\|PubMed:18046459;Dbxref=PMID:18046459
P11717	1772	1826	1804	1839	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00479,ECO:0000269\|PubMed:18046459;Dbxref=PMID:18046459
P11717	1772	1826	1816	1816	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	1772	1826	1792	1794	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1818	1821	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1667	1820	Repeat	Note=12
P11717	1772	1826	1821	2008	Repeat	Note=13
P11717	1772	1826	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	1772	1826	1781	1783	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1801	1804	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1809	1811	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	2281	2331	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	2281	2331	2165	2289	Repeat	Note=15
P11717	2281	2331	2330	2330	Sequence conflict	Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
P11717	2281	2331	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	2281	2331	2328	2491	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	2281	2331	2305	2327	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
P11717	493	540	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	493	540	512	512	Natural variant	ID=VAR_021307;Note=K->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.5;Dbxref=dbSNP:rs8191776
P11717	493	540	529	529	Natural variant	ID=VAR_020472;Note=R->Q;Dbxref=dbSNP:rs6413489
P11717	493	540	490	643	Repeat	Note=4
P11717	493	540	510	510	Sequence conflict	Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
P11717	493	540	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	540	588	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	540	588	543	543	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	540	588	581	581	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12754519;Dbxref=PMID:12754519
P11717	540	588	490	643	Repeat	Note=4
P11717	540	588	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	588	634	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	588	634	627	664	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00479
P11717	588	634	626	626	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19159218;Dbxref=PMID:19159218
P11717	588	634	604	604	Natural variant	ID=VAR_020473;Note=G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|Ref.5;Dbxref=dbSNP:rs8191797
P11717	588	634	490	643	Repeat	Note=4
P11717	588	634	612	612	Sequence conflict	Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P11717	588	634	612	612	Sequence conflict	Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
P11717	588	634	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	1030	1087	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	1030	1087	951	1099	Repeat	Note=7
P11717	1030	1087	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	1223	1295	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	1223	1295	1246	1246	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12754519;Dbxref=PMID:12754519
P11717	1223	1295	1254	1254	Natural variant	ID=VAR_050428;Note=E->A;Dbxref=dbSNP:rs2230043
P11717	1223	1295	1100	1243	Repeat	Note=8
P11717	1223	1295	1244	1384	Repeat	Note=9
P11717	1223	1295	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	1523	1563	1526	1528	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	1533	1536	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	1538	1542	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	1546	1550	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	1552	1554	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	1558	1560	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2L2A
P11717	1523	1563	1563	1567	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	1523	1563	1516	1553	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00479,ECO:0000269\|PubMed:18046459;Dbxref=PMID:18046459
P11717	1523	1563	1559	1566	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00479,ECO:0000269\|PubMed:18046459;Dbxref=PMID:18046459
P11717	1523	1563	1530	1532	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	1385	1532	Repeat	Note=10
P11717	1523	1563	1533	1666	Repeat	Note=11
P11717	1523	1563	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	1523	1563	1521	1523	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1523	1563	1543	1545	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:1GP0
P11717	1772	1826	1775	1777	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1784	1791	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1805	1807	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1814	1816	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1825	1829	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	1772	1826	1750	1783	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00479,ECO:0000269\|PubMed:18046459;Dbxref=PMID:18046459
P11717	1772	1826	1766	1795	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00479,ECO:0000269\|PubMed:18046459;Dbxref=PMID:18046459
P11717	1772	1826	1804	1839	Disulfide bond	Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255\|PROSITE-ProRule:PRU00479,ECO:0000269\|PubMed:18046459;Dbxref=PMID:18046459
P11717	1772	1826	1816	1816	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	1772	1826	1792	1794	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1818	1821	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1667	1820	Repeat	Note=12
P11717	1772	1826	1821	2008	Repeat	Note=13
P11717	1772	1826	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	1772	1826	1781	1783	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1801	1804	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	1772	1826	1809	1811	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2V5O
P11717	2281	2331	41	2491	Chain	ID=PRO_0000019229;Note=Cation-independent mannose-6-phosphate receptor
P11717	2281	2331	2165	2289	Repeat	Note=15
P11717	2281	2331	2330	2330	Sequence conflict	Note=E->K;Ontology_term=ECO:0000305;evidence=ECO:0000305
P11717	2281	2331	41	2304	Topological domain	Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	2281	2331	2328	2491	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11717	2281	2331	2305	2327	Transmembrane	Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255

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SNVs in the skipped exons for IGF2R

- 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
LUAD	TCGA-44-6144-01	exon_skip_455224	160464180	160464320	160464271	160464271	Frame_Shift_Del	G	-	p.Q524fs
LUAD	TCGA-55-7911-01	exon_skip_455224	160464180	160464320	160464274	160464277	Frame_Shift_Del	AGGC	-	p.E525fs
LUAD	TCGA-55-7911-01	exon_skip_455224	160464180	160464320	160464274	160464277	Frame_Shift_Del	AGGC	-	p.EG525fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_455225	160465546	160465689	160465571	160465571	Frame_Shift_Del	A	-	p.G549fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_455226	160466777	160466914	160466800	160466800	Frame_Shift_Del	T	-	p.L597fs
LIHC	TCGA-DD-A39Y-01	exon_skip_455228	160481579	160481749	160481582	160481582	Frame_Shift_Del	C	-	p.T1032fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_455230	160484447	160484662	160484586	160484586	Frame_Shift_Del	C	-	p.C1270fs
COAD	TCGA-AU-6004-01	exon_skip_455231	160485433	160485563	160485488	160485488	Frame_Shift_Del	G	-	p.T1314fs
COAD	TCGA-F4-6570-01	exon_skip_455231	160485433	160485563	160485488	160485488	Frame_Shift_Del	G	-	p.T1314fs
COAD	TCGA-G4-6588-01	exon_skip_455231	160485433	160485563	160485488	160485488	Frame_Shift_Del	G	-	p.T1314fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_455231	160485433	160485563	160485488	160485488	Frame_Shift_Del	G	-	p.T1314fs
UCEC	TCGA-D1-A17D-01	exon_skip_455231	160485433	160485563	160485488	160485488	Frame_Shift_Del	G	-	p.T1314fs
UCS	TCGA-N7-A4Y0-01	exon_skip_455231	160485433	160485563	160485488	160485488	Frame_Shift_Del	G	-	p.T1314fs
KIRP	TCGA-GL-A59T-01	exon_skip_455237	160494245	160494501	160494272	160494272	Frame_Shift_Del	G	-	p.S1573fs
LIHC	TCGA-DD-A1EG-01	exon_skip_455243	160523551	160523703	160523576	160523576	Frame_Shift_Del	G	-	p.G2290fs
LIHC	TCGA-DD-A39Y-01	exon_skip_455243	160523551	160523703	160523576	160523576	Frame_Shift_Del	G	-	p.G2290fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_455243	160523551	160523703	160523576	160523576	Frame_Shift_Del	G	-	p.G2290fs
COAD	TCGA-AD-6901-01	exon_skip_455231	160485433	160485563	160485487	160485488	Frame_Shift_Ins	-	G	p.T1314fs
COAD	TCGA-AZ-6598-01	exon_skip_455231	160485433	160485563	160485487	160485488	Frame_Shift_Ins	-	G	p.T1314fs
STAD	TCGA-R5-A7ZI-01	exon_skip_455231	160485433	160485563	160485487	160485488	Frame_Shift_Ins	-	G	p.R1314fs
UCEC	TCGA-BG-A0M3-01	exon_skip_455231	160485433	160485563	160485487	160485488	Frame_Shift_Ins	-	G	p.T1314fs
UCEC	TCGA-BS-A0TJ-01	exon_skip_455231	160485433	160485563	160485487	160485488	Frame_Shift_Ins	-	G	p.T1314fs
STAD	TCGA-BR-8059-01	exon_skip_455231	160485433	160485563	160485488	160485489	Frame_Shift_Ins	-	G	p.T1314fs
STAD	TCGA-BR-8363-01	exon_skip_455231	160485433	160485563	160485488	160485489	Frame_Shift_Ins	-	G	p.T1314fs
STAD	TCGA-F1-6874-01	exon_skip_455231	160485433	160485563	160485488	160485489	Frame_Shift_Ins	-	G	p.T1314fs
STAD	TCGA-HU-A4GQ-01	exon_skip_455231	160485433	160485563	160485488	160485489	Frame_Shift_Ins	-	G	p.T1314fs
ESCA	TCGA-IG-A50L-01	exon_skip_455228	160481579	160481749	160481680	160481680	Nonsense_Mutation	C	T	p.R1065*
ESCA	TCGA-IG-A50L-01	exon_skip_455228	160481579	160481749	160481680	160481680	Nonsense_Mutation	C	T	p.R1065X
COAD	TCGA-AZ-6598-01	exon_skip_455232	160485836	160485933	160485884	160485884	Nonsense_Mutation	C	T	p.R1356X
LUSC	TCGA-33-4566-01	exon_skip_455237	160494245	160494501	160494403	160494403	Nonsense_Mutation	G	T	p.E1617*

- 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
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	160485433	160485563	160485488	160485488	Frame_Shift_Del	G	-	p.T1314fs
SNUC2A_LARGE_INTESTINE	160485433	160485563	160485488	160485488	Frame_Shift_Del	G	-	p.T1314fs
TOV21G_OVARY	160485433	160485563	160485488	160485488	Frame_Shift_Del	G	-	p.T1314fs
CAL51_BREAST	160485433	160485563	160485488	160485488	Frame_Shift_Del	G	-	p.T1314fs
CCK81_LARGE_INTESTINE	160485433	160485563	160485488	160485488	Frame_Shift_Del	G	-	p.T1314fs
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	160485433	160485563	160485488	160485488	Frame_Shift_Del	G	-	p.T1314fs
SW48_LARGE_INTESTINE	160485433	160485563	160485488	160485488	Frame_Shift_Del	G	-	p.T1314fs
GP5D_LARGE_INTESTINE	160485433	160485563	160485488	160485488	Frame_Shift_Del	G	-	p.T1314fs
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	160485433	160485563	160485488	160485488	Frame_Shift_Del	G	-	p.T1314fs
LS411N_LARGE_INTESTINE	160450582	160450687	160450610	160450610	Missense_Mutation	G	A	p.A269T
NCIH526_LUNG	160450582	160450687	160450619	160450619	Missense_Mutation	C	G	p.L272V
K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	160450582	160450687	160450640	160450640	Missense_Mutation	A	G	p.S279G
ONS76_CENTRAL_NERVOUS_SYSTEM	160450582	160450687	160450671	160450671	Missense_Mutation	C	T	p.P289L
KM12_LARGE_INTESTINE	160464180	160464320	160464261	160464261	Missense_Mutation	G	T	p.R521I
LB1047EBV_MATCHED_NORMAL_TISSUE	160464180	160464320	160464285	160464285	Missense_Mutation	G	A	p.R529Q
LB1047RCC_KIDNEY	160464180	160464320	160464285	160464285	Missense_Mutation	G	A	p.R529Q
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	160464180	160464320	160464290	160464290	Missense_Mutation	T	A	p.C531S
WM35_SKIN	160464180	160464320	160464305	160464305	Missense_Mutation	G	A	p.A536T
HEPG2_LIVER	160465546	160465689	160465641	160465641	Missense_Mutation	G	A	p.G573S
C3A_LIVER	160465546	160465689	160465641	160465641	Missense_Mutation	G	A	p.G573S
SNU520_STOMACH	160466777	160466914	160466781	160466781	Missense_Mutation	T	A	p.D590E
NCIH513_PLEURA	160466777	160466914	160466872	160466872	Missense_Mutation	A	G	p.K621E
NCIH1436_LUNG	160481579	160481749	160481584	160481584	Missense_Mutation	G	T	p.A1033S
SNU1040_LARGE_INTESTINE	160481579	160481749	160481603	160481603	Missense_Mutation	G	A	p.R1039H
RCCER_KIDNEY	160484447	160484662	160484639	160484639	Missense_Mutation	C	T	p.P1288L
HEC108_ENDOMETRIUM	160485433	160485563	160485499	160485499	Missense_Mutation	C	T	p.T1318I
LK2_LUNG	160485433	160485563	160485499	160485499	Missense_Mutation	C	T	p.T1318I
KYSE510_OESOPHAGUS	160485433	160485563	160485533	160485533	Missense_Mutation	C	G	p.I1329M
LN405_CENTRAL_NERVOUS_SYSTEM	160485433	160485563	160485556	160485556	Missense_Mutation	C	T	p.T1337I
HEC108_ENDOMETRIUM	160485836	160485933	160485887	160485887	Missense_Mutation	A	G	p.T1357A
HEC59_ENDOMETRIUM	160485836	160485933	160485888	160485888	Missense_Mutation	C	T	p.T1357M
CCK81_LARGE_INTESTINE	160485836	160485933	160485896	160485896	Missense_Mutation	G	A	p.A1360T
NCIH1184_LUNG	160493797	160493916	160493913	160493913	Missense_Mutation	G	C	p.V1563L
NCIH727_LUNG	160494245	160494501	160494333	160494333	Missense_Mutation	G	T	p.K1593N
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	160494245	160494501	160494352	160494352	Missense_Mutation	T	A	p.S1600T
CW2_LARGE_INTESTINE	160494245	160494501	160494424	160494424	Missense_Mutation	C	T	p.P1624S
JHUEM7_ENDOMETRIUM	160499233	160499394	160499266	160499266	Missense_Mutation	G	A	p.D1784N
KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	160499233	160499394	160499303	160499303	Missense_Mutation	C	A	p.P1796H
SNU213_PANCREAS	160499233	160499394	160499308	160499308	Missense_Mutation	G	C	p.E1798Q
TE11_OESOPHAGUS	160499233	160499394	160499308	160499308	Missense_Mutation	G	A	p.E1798K
HEC108_ENDOMETRIUM	160499233	160499394	160499384	160499384	Missense_Mutation	G	A	p.S1823N
HEC108_ENDOMETRIUM	160509065	160509179	160509080	160509080	Missense_Mutation	T	C	p.V2074A
SW982_SOFT_TISSUE	160509065	160509179	160509100	160509100	Missense_Mutation	C	T	p.P2081S
CORL32_LUNG	160517471	160517657	160517500	160517500	Missense_Mutation	T	C	p.S2229P
HT115_LARGE_INTESTINE	160517471	160517657	160517522	160517522	Missense_Mutation	A	C	p.K2236T
EKVX_LUNG	160517471	160517657	160517597	160517597	Missense_Mutation	A	T	p.H2261L
JHUEM7_ENDOMETRIUM	160517471	160517657	160517599	160517599	Missense_Mutation	G	A	p.E2262K
LS411N_LARGE_INTESTINE	160517471	160517657	160517612	160517612	Missense_Mutation	G	A	p.C2266Y
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	160517471	160517657	160517617	160517617	Missense_Mutation	T	C	p.Y2268H
NCIH1568_LUNG	160523551	160523703	160523577	160523577	Missense_Mutation	G	T	p.G2290V
TE8_OESOPHAGUS	160523551	160523703	160523627	160523627	Missense_Mutation	G	A	p.G2307S
LU135_LUNG	160466777	160466914	160466892	160466892	Nonsense_Mutation	C	A	p.C627*
CAOV4_OVARY	160481579	160481749	160481630	160481630	Nonsense_Mutation	C	G	p.S1048*
JAR_PLACENTA	160484447	160484662	160484464	160484464	Nonsense_Mutation	A	T	p.K1230*
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	160523551	160523703	160523588	160523588	Nonsense_Mutation	C	T	p.Q2294*
NCIH513_PLEURA	160494245	160494501	160494245	160494245	Splice_Site	G	T	p.G1564V

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for IGF2R

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 IGF2R

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for IGF2R

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RelatedDrugs for IGF2R

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
	P11717	DB14751	Mecasermin rinfabate	Cation-independent mannose-6-phosphate receptor	biotech	approved
	P11717	DB01277	Mecasermin	Cation-independent mannose-6-phosphate receptor	biotech	approved\|investigational
	P11717	DB13173	Cerliponase alfa	Cation-independent mannose-6-phosphate receptor	biotech	approved\|investigational

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RelatedDiseases for IGF2R

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
IGF2R	C0024115	Lung diseases	2	CTD_human
IGF2R	C0235833	Congenital diaphragmatic hernia	2	CTD_human
IGF2R	C0002395	Alzheimer's Disease	1	CTD_human
IGF2R	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
IGF2R	C0030567	Parkinson Disease	1	CTD_human
IGF2R	C0752347	Lewy Body Disease	1	CTD_human
IGF2R	C2239176	Liver carcinoma	1	CTD_human;HPO

	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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