ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for MID1

Gene summary

Gene information	Gene symbol	MID1
	Gene ID	4281
	Gene name	midline 1
	Synonyms	BBBG1\|FXY\|GBBB1\|MIDIN\|OGS1\|OS\|OSX\|RNF59\|TRIM18\|XPRF\|ZNFXY
	Cytomap	Xp22.2
	Type of gene	protein-coding
	Description	E3 ubiquitin-protein ligase Midline-1Opitz/BBB syndromeRING finger protein 59RING finger protein Midline-1RING-type E3 ubiquitin transferase Midline-1midline 1 RING finger proteinputative transcription factor XPRFtripartite motif protein TRIM18tri
	Modification date	20180519
	UniProtAcc	O15344
	Context	PubMed: MID1 [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 MID1 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 MID1

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 MID1

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_513894	X	10423114:10423117:10427685:10427847:10437736:10437880	10427685:10427847	ENSG00000101871.10	ENST00000380779.1,ENST00000380780.1,ENST00000453318.2,ENST00000413894.1,ENST00000317552.4,ENST00000380787.1,ENST00000380782.2,ENST00000380785.1
exon_skip_513895	X	10450519:10450668:10463623:10463731:10491131:10491227	10463623:10463731	ENSG00000101871.10	ENST00000380779.1,ENST00000380780.1,ENST00000453318.2,ENST00000413894.1,ENST00000317552.4,ENST00000380787.1,ENST00000380782.2,ENST00000380785.1
exon_skip_513897	X	10463623:10463731:10491131:10491227:10534927:10535643	10491131:10491227	ENSG00000101871.10	ENST00000380779.1,ENST00000380780.1,ENST00000453318.2,ENST00000413894.1,ENST00000317552.4,ENST00000380787.1,ENST00000380782.2,ENST00000380785.1
exon_skip_513898	X	10491131:10491227:10534927:10535643:10557626:10557949	10534927:10535643	ENSG00000101871.10	ENST00000380780.1
exon_skip_513900	X	10491131:10491227:10534927:10535643:10588329:10588459	10534927:10535643	ENSG00000101871.10	ENST00000317552.4,ENST00000380782.2,ENST00000380785.1
exon_skip_513901	X	10491131:10491227:10534927:10535643:10851672:10851762	10534927:10535643	ENSG00000101871.10	ENST00000380787.1
exon_skip_513910	X	10535041:10535643:10588329:10588459:10851672:10851762	10588329:10588459	ENSG00000101871.10	ENST00000380785.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for MID1

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_513894	X	10423114:10423117:10427685:10427847:10437736:10437880	10427685:10427847	ENSG00000101871.10	ENST00000453318.2,ENST00000317552.4,ENST00000380779.1,ENST00000380780.1,ENST00000380785.1,ENST00000380787.1,ENST00000380782.2,ENST00000413894.1
exon_skip_513895	X	10450519:10450668:10463623:10463731:10491131:10491227	10463623:10463731	ENSG00000101871.10	ENST00000453318.2,ENST00000317552.4,ENST00000380779.1,ENST00000380780.1,ENST00000380785.1,ENST00000380787.1,ENST00000380782.2,ENST00000413894.1
exon_skip_513897	X	10463623:10463731:10491131:10491227:10534927:10535643	10491131:10491227	ENSG00000101871.10	ENST00000453318.2,ENST00000317552.4,ENST00000380779.1,ENST00000380780.1,ENST00000380785.1,ENST00000380787.1,ENST00000380782.2,ENST00000413894.1
exon_skip_513900	X	10491131:10491227:10534927:10535643:10588329:10588459	10534927:10535643	ENSG00000101871.10	ENST00000317552.4,ENST00000380785.1,ENST00000380782.2
exon_skip_513901	X	10491131:10491227:10534927:10535643:10851672:10851762	10534927:10535643	ENSG00000101871.10	ENST00000380787.1
exon_skip_513910	X	10535041:10535643:10588329:10588459:10851672:10851762	10588329:10588459	ENSG00000101871.10	ENST00000380785.1

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 MID1

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
ENST00000317552	10534927	10535643	3UTR-3CDS
ENST00000380780	10534927	10535643	3UTR-3CDS
ENST00000380785	10534927	10535643	3UTR-3CDS
ENST00000380787	10534927	10535643	3UTR-3CDS
ENST00000380785	10588329	10588459	3UTR-3UTR
ENST00000317552	10427685	10427847	In-frame
ENST00000380779	10427685	10427847	In-frame
ENST00000380780	10427685	10427847	In-frame
ENST00000380785	10427685	10427847	In-frame
ENST00000380787	10427685	10427847	In-frame
ENST00000453318	10427685	10427847	In-frame
ENST00000317552	10463623	10463731	In-frame
ENST00000380779	10463623	10463731	In-frame
ENST00000380780	10463623	10463731	In-frame
ENST00000380785	10463623	10463731	In-frame
ENST00000380787	10463623	10463731	In-frame
ENST00000453318	10463623	10463731	In-frame
ENST00000317552	10491131	10491227	In-frame
ENST00000380779	10491131	10491227	In-frame
ENST00000380780	10491131	10491227	In-frame
ENST00000380785	10491131	10491227	In-frame
ENST00000380787	10491131	10491227	In-frame
ENST00000453318	10491131	10491227	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
ENST00000317552	10534927	10535643	3UTR-3CDS
ENST00000380785	10534927	10535643	3UTR-3CDS
ENST00000380787	10534927	10535643	3UTR-3CDS
ENST00000380785	10588329	10588459	3UTR-3UTR
ENST00000317552	10427685	10427847	In-frame
ENST00000380779	10427685	10427847	In-frame
ENST00000380780	10427685	10427847	In-frame
ENST00000380785	10427685	10427847	In-frame
ENST00000380787	10427685	10427847	In-frame
ENST00000453318	10427685	10427847	In-frame
ENST00000317552	10463623	10463731	In-frame
ENST00000380779	10463623	10463731	In-frame
ENST00000380780	10463623	10463731	In-frame
ENST00000380785	10463623	10463731	In-frame
ENST00000380787	10463623	10463731	In-frame
ENST00000453318	10463623	10463731	In-frame
ENST00000317552	10491131	10491227	In-frame
ENST00000380779	10491131	10491227	In-frame
ENST00000380780	10491131	10491227	In-frame
ENST00000380785	10491131	10491227	In-frame
ENST00000380787	10491131	10491227	In-frame
ENST00000453318	10491131	10491227	In-frame

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Infer the effects of exon skipping event on protein functional features for MID1

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
ENST00000317552	6480	667	10491131	10491227	1062	1157	220	252
ENST00000380779	6061	667	10491131	10491227	889	984	220	252
ENST00000380780	6212	667	10491131	10491227	1040	1135	220	252
ENST00000380785	6109	667	10491131	10491227	937	1032	220	252
ENST00000380787	5990	667	10491131	10491227	818	913	220	252
ENST00000453318	6410	667	10491131	10491227	992	1087	220	252
ENST00000317552	6480	667	10463623	10463731	1158	1265	252	288
ENST00000380779	6061	667	10463623	10463731	985	1092	252	288
ENST00000380780	6212	667	10463623	10463731	1136	1243	252	288
ENST00000380785	6109	667	10463623	10463731	1033	1140	252	288
ENST00000380787	5990	667	10463623	10463731	914	1021	252	288
ENST00000453318	6410	667	10463623	10463731	1088	1195	252	288
ENST00000317552	6480	667	10427685	10427847	1687	1848	428	482
ENST00000380779	6061	667	10427685	10427847	1514	1675	428	482
ENST00000380780	6212	667	10427685	10427847	1665	1826	428	482
ENST00000380785	6109	667	10427685	10427847	1562	1723	428	482
ENST00000380787	5990	667	10427685	10427847	1443	1604	428	482
ENST00000453318	6410	667	10427685	10427847	1617	1778	428	482

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
ENST00000317552	6480	667	10491131	10491227	1062	1157	220	252
ENST00000380779	6061	667	10491131	10491227	889	984	220	252
ENST00000380780	6212	667	10491131	10491227	1040	1135	220	252
ENST00000380785	6109	667	10491131	10491227	937	1032	220	252
ENST00000380787	5990	667	10491131	10491227	818	913	220	252
ENST00000453318	6410	667	10491131	10491227	992	1087	220	252
ENST00000317552	6480	667	10463623	10463731	1158	1265	252	288
ENST00000380779	6061	667	10463623	10463731	985	1092	252	288
ENST00000380780	6212	667	10463623	10463731	1136	1243	252	288
ENST00000380785	6109	667	10463623	10463731	1033	1140	252	288
ENST00000380787	5990	667	10463623	10463731	914	1021	252	288
ENST00000453318	6410	667	10463623	10463731	1088	1195	252	288
ENST00000317552	6480	667	10427685	10427847	1687	1848	428	482
ENST00000380779	6061	667	10427685	10427847	1514	1675	428	482
ENST00000380780	6212	667	10427685	10427847	1665	1826	428	482
ENST00000380785	6109	667	10427685	10427847	1562	1723	428	482
ENST00000380787	5990	667	10427685	10427847	1443	1604	428	482
ENST00000453318	6410	667	10427685	10427847	1617	1778	428	482

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
O15344	220	252	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	220	252	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	220	252	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	220	252	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	220	252	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	220	252	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	220	252	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	220	252	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	220	252	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	220	252	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	220	252	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	220	252	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	220	252	228	228	Sequence conflict	Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15344	220	252	228	228	Sequence conflict	Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15344	220	252	228	228	Sequence conflict	Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15344	220	252	228	228	Sequence conflict	Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15344	220	252	228	228	Sequence conflict	Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15344	220	252	228	228	Sequence conflict	Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15344	252	288	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	252	288	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	252	288	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	252	288	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	252	288	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	252	288	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	252	288	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	252	288	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	252	288	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	252	288	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	252	288	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	252	288	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	252	288	266	266	Natural variant	ID=VAR_013758;Note=In GBBB1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9718340;Dbxref=PMID:9718340
O15344	252	288	266	266	Natural variant	ID=VAR_013758;Note=In GBBB1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9718340;Dbxref=PMID:9718340
O15344	252	288	266	266	Natural variant	ID=VAR_013758;Note=In GBBB1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9718340;Dbxref=PMID:9718340
O15344	252	288	266	266	Natural variant	ID=VAR_013758;Note=In GBBB1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9718340;Dbxref=PMID:9718340
O15344	252	288	266	266	Natural variant	ID=VAR_013758;Note=In GBBB1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9718340;Dbxref=PMID:9718340
O15344	252	288	266	266	Natural variant	ID=VAR_013758;Note=In GBBB1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9718340;Dbxref=PMID:9718340
O15344	428	482	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	428	482	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	428	482	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	428	482	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	428	482	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	428	482	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	428	482	381	484	Domain	Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
O15344	428	482	381	484	Domain	Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
O15344	428	482	381	484	Domain	Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
O15344	428	482	381	484	Domain	Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
O15344	428	482	381	484	Domain	Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
O15344	428	482	381	484	Domain	Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
O15344	428	482	482	659	Domain	Note=B30.2/SPRY;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00548
O15344	428	482	482	659	Domain	Note=B30.2/SPRY;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00548
O15344	428	482	482	659	Domain	Note=B30.2/SPRY;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00548
O15344	428	482	482	659	Domain	Note=B30.2/SPRY;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00548
O15344	428	482	482	659	Domain	Note=B30.2/SPRY;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00548
O15344	428	482	482	659	Domain	Note=B30.2/SPRY;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00548
O15344	428	482	438	438	Natural variant	ID=VAR_013759;Note=In GBBB1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9354791;Dbxref=PMID:9354791
O15344	428	482	438	438	Natural variant	ID=VAR_013759;Note=In GBBB1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9354791;Dbxref=PMID:9354791
O15344	428	482	438	438	Natural variant	ID=VAR_013759;Note=In GBBB1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9354791;Dbxref=PMID:9354791
O15344	428	482	438	438	Natural variant	ID=VAR_013759;Note=In GBBB1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9354791;Dbxref=PMID:9354791
O15344	428	482	438	438	Natural variant	ID=VAR_013759;Note=In GBBB1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9354791;Dbxref=PMID:9354791
O15344	428	482	438	438	Natural variant	ID=VAR_013759;Note=In GBBB1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9354791;Dbxref=PMID:9354791

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
O15344	220	252	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	220	252	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	220	252	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	220	252	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	220	252	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	220	252	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	220	252	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	220	252	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	220	252	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	220	252	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	220	252	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	220	252	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	220	252	228	228	Sequence conflict	Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15344	220	252	228	228	Sequence conflict	Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15344	220	252	228	228	Sequence conflict	Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15344	220	252	228	228	Sequence conflict	Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15344	220	252	228	228	Sequence conflict	Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15344	220	252	228	228	Sequence conflict	Note=T->P;Ontology_term=ECO:0000305;evidence=ECO:0000305
O15344	252	288	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	252	288	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	252	288	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	252	288	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	252	288	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	252	288	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	252	288	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	252	288	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	252	288	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	252	288	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	252	288	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	252	288	205	264	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
O15344	252	288	266	266	Natural variant	ID=VAR_013758;Note=In GBBB1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9718340;Dbxref=PMID:9718340
O15344	252	288	266	266	Natural variant	ID=VAR_013758;Note=In GBBB1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9718340;Dbxref=PMID:9718340
O15344	252	288	266	266	Natural variant	ID=VAR_013758;Note=In GBBB1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9718340;Dbxref=PMID:9718340
O15344	252	288	266	266	Natural variant	ID=VAR_013758;Note=In GBBB1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9718340;Dbxref=PMID:9718340
O15344	252	288	266	266	Natural variant	ID=VAR_013758;Note=In GBBB1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9718340;Dbxref=PMID:9718340
O15344	252	288	266	266	Natural variant	ID=VAR_013758;Note=In GBBB1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9718340;Dbxref=PMID:9718340
O15344	428	482	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	428	482	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	428	482	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	428	482	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	428	482	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	428	482	1	667	Chain	ID=PRO_0000056227;Note=E3 ubiquitin-protein ligase Midline-1
O15344	428	482	381	484	Domain	Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
O15344	428	482	381	484	Domain	Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
O15344	428	482	381	484	Domain	Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
O15344	428	482	381	484	Domain	Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
O15344	428	482	381	484	Domain	Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
O15344	428	482	381	484	Domain	Note=Fibronectin type-III;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00316
O15344	428	482	482	659	Domain	Note=B30.2/SPRY;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00548
O15344	428	482	482	659	Domain	Note=B30.2/SPRY;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00548
O15344	428	482	482	659	Domain	Note=B30.2/SPRY;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00548
O15344	428	482	482	659	Domain	Note=B30.2/SPRY;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00548
O15344	428	482	482	659	Domain	Note=B30.2/SPRY;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00548
O15344	428	482	482	659	Domain	Note=B30.2/SPRY;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00548
O15344	428	482	438	438	Natural variant	ID=VAR_013759;Note=In GBBB1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9354791;Dbxref=PMID:9354791
O15344	428	482	438	438	Natural variant	ID=VAR_013759;Note=In GBBB1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9354791;Dbxref=PMID:9354791
O15344	428	482	438	438	Natural variant	ID=VAR_013759;Note=In GBBB1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9354791;Dbxref=PMID:9354791
O15344	428	482	438	438	Natural variant	ID=VAR_013759;Note=In GBBB1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9354791;Dbxref=PMID:9354791
O15344	428	482	438	438	Natural variant	ID=VAR_013759;Note=In GBBB1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9354791;Dbxref=PMID:9354791
O15344	428	482	438	438	Natural variant	ID=VAR_013759;Note=In GBBB1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9354791;Dbxref=PMID:9354791

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SNVs in the skipped exons for MID1

- 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
KIRC	TCGA-CZ-5453-01	exon_skip_513894	10427686	10427847	10427708	10427708	Frame_Shift_Del	C	-	p.P476fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_513897	10491132	10491227	10491166	10491166	Frame_Shift_Del	A	-	p.L241fs
KIRP	TCGA-F9-A7VF-01	exon_skip_513900 exon_skip_513898 exon_skip_513901	10534928	10535643	10535072	10535072	Frame_Shift_Del	C	-	p.L173X
HNSC	TCGA-MT-A67F-01	exon_skip_513895	10463624	10463731	10463668	10463668	Nonsense_Mutation	G	A	p.Q274*
UCS	TCGA-ND-A4WC-01	exon_skip_513897	10491132	10491227	10491182	10491182	Nonsense_Mutation	C	A	p.E236*
UCS	TCGA-ND-A4WC-01	exon_skip_513897	10491132	10491227	10491182	10491182	Nonsense_Mutation	C	A	p.E236X
KIRC	TCGA-G6-A8L6-01	exon_skip_513900 exon_skip_513898 exon_skip_513901	10534928	10535643	10535176	10535176	Nonsense_Mutation	C	A	p.E138X
HNSC	TCGA-HD-7753-01	exon_skip_513900 exon_skip_513898 exon_skip_513901	10534928	10535643	10535569	10535569	Nonsense_Mutation	C	A	p.E7*

- 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
SCH_STOMACH	10534928	10535643	10535351	10535351	Frame_Shift_Del	T	-	p.L79fs
DOV13_OVARY	10534928	10535643	10534952	10534953	Frame_Shift_Ins	-	A	p.L212fs
CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10427686	10427847	10427812	10427812	Missense_Mutation	G	A	p.P441S
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10534928	10535643	10534944	10534944	Missense_Mutation	C	T	p.R215H
MDAMB453_BREAST	10534928	10535643	10534966	10534966	Missense_Mutation	G	T	p.Q208K
DOV13_OVARY	10534928	10535643	10534974	10534974	Missense_Mutation	C	T	p.R205H
HS294T_SKIN	10534928	10535643	10534974	10534974	Missense_Mutation	C	T	p.R205H
NCIH2066_LUNG	10534928	10535643	10535013	10535013	Missense_Mutation	T	C	p.Q192R
JHOS2_OVARY	10534928	10535643	10535025	10535025	Missense_Mutation	A	G	p.V188A
C33A_CERVIX	10534928	10535643	10535028	10535028	Missense_Mutation	C	T	p.C187Y
SNUC5_LARGE_INTESTINE	10534928	10535643	10535109	10535109	Missense_Mutation	C	T	p.R160H
HEC1_ENDOMETRIUM	10534928	10535643	10535110	10535110	Missense_Mutation	G	A	p.R160C
JHUEM7_ENDOMETRIUM	10534928	10535643	10535158	10535158	Missense_Mutation	C	T	p.E144K
SW1573_LUNG	10534928	10535643	10535265	10535265	Missense_Mutation	G	A	p.A108V
OVK18_OVARY	10534928	10535643	10535416	10535416	Missense_Mutation	T	C	p.T58A
BICR18_UPPER_AERODIGESTIVE_TRACT	10534928	10535643	10535433	10535433	Missense_Mutation	G	T	p.T52N
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10534928	10535643	10535433	10535433	Missense_Mutation	G	T	p.T52N
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	10534928	10535643	10535449	10535449	Missense_Mutation	A	G	p.S47P
BICR18_UPPER_AERODIGESTIVE_TRACT	10534928	10535643	10535449	10535449	Missense_Mutation	A	G	p.S47P
GP2D_LARGE_INTESTINE	10491132	10491227	10491152	10491152	Nonsense_Mutation	G	A	p.Q246*
GP5D_LARGE_INTESTINE	10491132	10491227	10491152	10491152	Nonsense_Mutation	G	A	p.Q246*
HCC366_LUNG	10534928	10535643	10535245	10535245	Nonsense_Mutation	C	A	p.E115*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MID1

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 MID1

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MID1

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RelatedDrugs for MID1

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 MID1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
MID1	C2936904	Opitz GBBB Syndrome, X-Linked	3	CTD_human;ORPHANET;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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