ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for MEN1

Gene summary

Gene information	Gene symbol	MEN1
	Gene ID	4221
	Gene name	menin 1
	Synonyms	MEAI\|SCG2
	Cytomap	11q13.1
	Type of gene	protein-coding
	Description	menin
	Modification date	20200320
	UniProtAcc	A0A024R570, A0A024R5D2, A0A024R5E3, A0A5F9ZHS3, A0A5F9ZI68, C9DZM4, E7EN32, E7ENS2, Q7Z5Y5, Q7Z6F9, Q9GZQ5,
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
MEN1	GO:0000122	negative regulation of transcription by RNA polymerase II	9989505\|12837246\|23784080
MEN1	GO:0000165	MAPK cascade	12226747
MEN1	GO:0001933	negative regulation of protein phosphorylation	12226747
MEN1	GO:0006974	cellular response to DNA damage stimulus	16690369
MEN1	GO:0008285	negative regulation of cell proliferation	15331604
MEN1	GO:0009411	response to UV	16690369
MEN1	GO:0010332	response to gamma radiation	12874027
MEN1	GO:0032092	positive regulation of protein binding	20484083
MEN1	GO:0043433	negative regulation of DNA-binding transcription factor activity	11526476\|12226747
MEN1	GO:0045786	negative regulation of cell cycle	15331604
MEN1	GO:0045892	negative regulation of transcription, DNA-templated	12226747
MEN1	GO:0046329	negative regulation of JNK cascade	12226747

Top

Gene structures and expression levels for MEN1

Skipped exons in the ROSMAP, MSBB, and Mayo 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.

ENSG00000133895

Differentially expressed gene analysis across multiple brain tissues between AD and control.

Tissue type

DEG direction

Base mean exp.

log2FC(AD/control)

P-value

Adj. p-value

Differentially expressed isoform analysis across multiple brain tissues between AD and control.

Tissue type	DEG direction	ENST	Transcript info.	Base mean exp.	log2FC(AD/control)	P-value	Adjc. p-value
PG	UP	ENST00000407188.5	KREMEN1-203:protein_coding:KREMEN1	3.501488e+00	1.055056e+00	3.085165e-03	3.244969e-02
CB	DOWN	ENST00000377321.5	MEN1-206:protein_coding:MEN1	2.474291e+01	-2.790126e+00	3.213728e-05	2.825557e-04
CB	UP	ENST00000672079.1	MEN1-218:nonsense_mediated_decay:MEN1	3.902752e+00	1.384778e+00	9.055747e-04	4.749529e-03
TC	DOWN	ENST00000377321.5	MEN1-206:protein_coding:MEN1	4.223341e+01	-2.596154e+00	5.094232e-05	9.446512e-04

Landscape of isoform expressions across multiple brain tissues between AD and control.

Top

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MEN1

Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).

All exon skipping events in AD cohorts.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon
exon_skip_202540	chr11	64805635:64805770:64805888:64806013:64806232:64806368	64805888:64806013
exon_skip_219322	chr11	64806232:64806368:64807011:64807098:64807179:64807219	64807011:64807098
exon_skip_270393	chr11	64803510:64804816:64805034:64805198:64805635:64805770	64805034:64805198
exon_skip_6111	chr11	64804796:64804816:64805034:64805198:64805635:64805770	64805034:64805198

Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.

Exon skipping information

Tissue type

Avg(PSIs) in AD

Avg(PSIs) in control

Difference (PSI)

Adj. p-value

Top

Open reading frame (ORF) annotation in the exon skipping event for MEN1

Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000337652	64807011	64807098	Frame-shift
ENST00000377313	64807011	64807098	Frame-shift
ENST00000394374	64807011	64807098	Frame-shift
ENST00000394376	64807011	64807098	Frame-shift
ENST00000337652	64805034	64805198	In-frame
ENST00000377313	64805034	64805198	In-frame
ENST00000394374	64805034	64805198	In-frame
ENST00000394376	64805034	64805198	In-frame

Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.

ENST

Start of skipped exon

End of skipped exon

ORF

Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000337652	64807011	64807098	Frame-shift
ENST00000377313	64807011	64807098	Frame-shift
ENST00000394374	64807011	64807098	Frame-shift
ENST00000394376	64807011	64807098	Frame-shift
ENST00000337652	64805034	64805198	In-frame
ENST00000377313	64805034	64805198	In-frame
ENST00000394374	64805034	64805198	In-frame
ENST00000394376	64805034	64805198	In-frame

Top

Infer the effects of exon skipping event on protein functional features for MEN1

p-ENSG00000133895_img4.png
boxplot

Loci of skipped exons in ROSMAP 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
ENST00000337652	3179	615	64805034	64805198	1705	1868	400	454
ENST00000377313	1888	615	64805034	64805198	1224	1387	400	454
ENST00000394374	3172	615	64805034	64805198	1698	1861	400	454
ENST00000394376	3051	615	64805034	64805198	1577	1740	400	454

Loci of skipped exons in MSBB 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

Loci of skipped exons in Mayo 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
ENST00000337652	3179	615	64805034	64805198	1705	1868	400	454
ENST00000377313	1888	615	64805034	64805198	1224	1387	400	454
ENST00000394374	3172	615	64805034	64805198	1698	1861	400	454
ENST00000394376	3051	615	64805034	64805198	1577	1740	400	454

Lost protein functional features of individual exon skipping events in ROSMAP.

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
O00255	400	454	1	615	Chain	ID=PRO_0000096411;Note=Menin
O00255	400	454	1	615	Chain	ID=PRO_0000096411;Note=Menin
O00255	400	454	1	615	Chain	ID=PRO_0000096411;Note=Menin
O00255	400	454	1	615	Chain	ID=PRO_0000096411;Note=Menin
O00255	400	454	408	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	408	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	408	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	408	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	412	429	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	412	429	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	412	429	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	412	429	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	439	450	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	439	450	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	439	450	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	439	450	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	454	457	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	454	457	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	454	457	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	454	457	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	416	416	Natural variant	ID=VAR_039634;Note=In MEN1%3B also found in isolated hyperparathyroidism. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12699448;Dbxref=PMID:12699448
O00255	400	454	416	416	Natural variant	ID=VAR_039634;Note=In MEN1%3B also found in isolated hyperparathyroidism. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12699448;Dbxref=PMID:12699448
O00255	400	454	416	416	Natural variant	ID=VAR_039634;Note=In MEN1%3B also found in isolated hyperparathyroidism. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12699448;Dbxref=PMID:12699448
O00255	400	454	416	416	Natural variant	ID=VAR_039634;Note=In MEN1%3B also found in isolated hyperparathyroidism. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12699448;Dbxref=PMID:12699448
O00255	400	454	418	418	Natural variant	ID=VAR_065155;Note=In MEN1. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17555499;Dbxref=PMID:17555499
O00255	400	454	418	418	Natural variant	ID=VAR_065155;Note=In MEN1. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17555499;Dbxref=PMID:17555499
O00255	400	454	418	418	Natural variant	ID=VAR_065155;Note=In MEN1. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17555499;Dbxref=PMID:17555499
O00255	400	454	418	418	Natural variant	ID=VAR_065155;Note=In MEN1. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17555499;Dbxref=PMID:17555499
O00255	400	454	419	419	Natural variant	ID=VAR_039635;Note=In MEN1. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11241849,ECO:0000269\|PubMed:17555499;Dbxref=PMID:11241849,PMID:17555499
O00255	400	454	419	419	Natural variant	ID=VAR_039635;Note=In MEN1. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11241849,ECO:0000269\|PubMed:17555499;Dbxref=PMID:11241849,PMID:17555499
O00255	400	454	419	419	Natural variant	ID=VAR_039635;Note=In MEN1. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11241849,ECO:0000269\|PubMed:17555499;Dbxref=PMID:11241849,PMID:17555499
O00255	400	454	419	419	Natural variant	ID=VAR_039635;Note=In MEN1. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11241849,ECO:0000269\|PubMed:17555499;Dbxref=PMID:11241849,PMID:17555499
O00255	400	454	420	420	Natural variant	ID=VAR_039636;Note=In MEN1. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10993647;Dbxref=PMID:10993647
O00255	400	454	420	420	Natural variant	ID=VAR_039636;Note=In MEN1. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10993647;Dbxref=PMID:10993647
O00255	400	454	420	420	Natural variant	ID=VAR_039636;Note=In MEN1. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10993647;Dbxref=PMID:10993647
O00255	400	454	420	420	Natural variant	ID=VAR_039636;Note=In MEN1. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10993647;Dbxref=PMID:10993647
O00255	400	454	423	426	Natural variant	ID=VAR_005463;Note=In MEN1. Missing
O00255	400	454	423	426	Natural variant	ID=VAR_005463;Note=In MEN1. Missing
O00255	400	454	423	426	Natural variant	ID=VAR_005463;Note=In MEN1. Missing
O00255	400	454	423	426	Natural variant	ID=VAR_005463;Note=In MEN1. Missing
O00255	400	454	423	423	Natural variant	ID=VAR_039637;Note=In MEN1. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15730416;Dbxref=dbSNP:rs104894264,PMID:15730416
O00255	400	454	423	423	Natural variant	ID=VAR_039637;Note=In MEN1. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15730416;Dbxref=dbSNP:rs104894264,PMID:15730416
O00255	400	454	423	423	Natural variant	ID=VAR_039637;Note=In MEN1. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15730416;Dbxref=dbSNP:rs104894264,PMID:15730416
O00255	400	454	423	423	Natural variant	ID=VAR_039637;Note=In MEN1. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15730416;Dbxref=dbSNP:rs104894264,PMID:15730416
O00255	400	454	423	423	Natural variant	ID=VAR_005461;Note=In MEN1. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12050235,ECO:0000269\|PubMed:12112656,ECO:0000269\|PubMed:12652570,ECO:0000269\|PubMed:9709921;Dbxref=dbSNP:rs104894264,PMID:12050235,P
O00255	400	454	423	423	Natural variant	ID=VAR_005461;Note=In MEN1. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12050235,ECO:0000269\|PubMed:12112656,ECO:0000269\|PubMed:12652570,ECO:0000269\|PubMed:9709921;Dbxref=dbSNP:rs104894264,PMID:12050235,P
O00255	400	454	423	423	Natural variant	ID=VAR_005461;Note=In MEN1. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12050235,ECO:0000269\|PubMed:12112656,ECO:0000269\|PubMed:12652570,ECO:0000269\|PubMed:9709921;Dbxref=dbSNP:rs104894264,PMID:12050235,P
O00255	400	454	423	423	Natural variant	ID=VAR_005461;Note=In MEN1. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12050235,ECO:0000269\|PubMed:12112656,ECO:0000269\|PubMed:12652570,ECO:0000269\|PubMed:9709921;Dbxref=dbSNP:rs104894264,PMID:12050235,P
O00255	400	454	423	423	Natural variant	ID=VAR_005462;Note=In MEN1. Missing
O00255	400	454	423	423	Natural variant	ID=VAR_005462;Note=In MEN1. Missing
O00255	400	454	423	423	Natural variant	ID=VAR_005462;Note=In MEN1. Missing
O00255	400	454	423	423	Natural variant	ID=VAR_005462;Note=In MEN1. Missing
O00255	400	454	426	426	Natural variant	ID=VAR_039638;Note=In MEN1. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs386134249,PMID:15714081
O00255	400	454	426	426	Natural variant	ID=VAR_039638;Note=In MEN1. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs386134249,PMID:15714081
O00255	400	454	426	426	Natural variant	ID=VAR_039638;Note=In MEN1. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs386134249,PMID:15714081
O00255	400	454	426	426	Natural variant	ID=VAR_039638;Note=In MEN1. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs386134249,PMID:15714081
O00255	400	454	428	428	Natural variant	ID=VAR_039639;Note=In MEN1. W->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9709985;Dbxref=PMID:9709985
O00255	400	454	428	428	Natural variant	ID=VAR_039639;Note=In MEN1. W->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9709985;Dbxref=PMID:9709985
O00255	400	454	428	428	Natural variant	ID=VAR_039639;Note=In MEN1. W->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9709985;Dbxref=PMID:9709985
O00255	400	454	428	428	Natural variant	ID=VAR_039639;Note=In MEN1. W->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9709985;Dbxref=PMID:9709985
O00255	400	454	432	432	Natural variant	ID=VAR_039640;Note=In MEN1. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10660339;Dbxref=dbSNP:rs1114167528,PMID:10660339
O00255	400	454	432	432	Natural variant	ID=VAR_039640;Note=In MEN1. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10660339;Dbxref=dbSNP:rs1114167528,PMID:10660339
O00255	400	454	432	432	Natural variant	ID=VAR_039640;Note=In MEN1. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10660339;Dbxref=dbSNP:rs1114167528,PMID:10660339
O00255	400	454	432	432	Natural variant	ID=VAR_039640;Note=In MEN1. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10660339;Dbxref=dbSNP:rs1114167528,PMID:10660339
O00255	400	454	441	441	Natural variant	ID=VAR_039641;Note=In MEN1. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs398124435,PMID:15714081
O00255	400	454	441	441	Natural variant	ID=VAR_039641;Note=In MEN1. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs398124435,PMID:15714081
O00255	400	454	441	441	Natural variant	ID=VAR_039641;Note=In MEN1. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs398124435,PMID:15714081
O00255	400	454	441	441	Natural variant	ID=VAR_039641;Note=In MEN1. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs398124435,PMID:15714081
O00255	400	454	441	441	Natural variant	ID=VAR_005464;Note=In MEN1%3B no effect on histone methylation%3B almost no effect on JUND-binding%3B modest repression of JUND transactivation. W->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14992727,ECO:00
O00255	400	454	441	441	Natural variant	ID=VAR_005464;Note=In MEN1%3B no effect on histone methylation%3B almost no effect on JUND-binding%3B modest repression of JUND transactivation. W->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14992727,ECO:00
O00255	400	454	441	441	Natural variant	ID=VAR_005464;Note=In MEN1%3B no effect on histone methylation%3B almost no effect on JUND-binding%3B modest repression of JUND transactivation. W->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14992727,ECO:00
O00255	400	454	441	441	Natural variant	ID=VAR_005464;Note=In MEN1%3B no effect on histone methylation%3B almost no effect on JUND-binding%3B modest repression of JUND transactivation. W->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14992727,ECO:00
O00255	400	454	449	449	Natural variant	ID=VAR_039642;Note=In MEN1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10229909;Dbxref=PMID:10229909
O00255	400	454	449	449	Natural variant	ID=VAR_039642;Note=In MEN1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10229909;Dbxref=PMID:10229909
O00255	400	454	449	449	Natural variant	ID=VAR_039642;Note=In MEN1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10229909;Dbxref=PMID:10229909
O00255	400	454	449	449	Natural variant	ID=VAR_039642;Note=In MEN1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10229909;Dbxref=PMID:10229909
O00255	400	454	452	452	Natural variant	ID=VAR_005465;Note=In MEN1%3B sporadic%3B with Zollinger-Ellison syndrome. F->S
O00255	400	454	452	452	Natural variant	ID=VAR_005465;Note=In MEN1%3B sporadic%3B with Zollinger-Ellison syndrome. F->S
O00255	400	454	452	452	Natural variant	ID=VAR_005465;Note=In MEN1%3B sporadic%3B with Zollinger-Ellison syndrome. F->S
O00255	400	454	452	452	Natural variant	ID=VAR_005465;Note=In MEN1%3B sporadic%3B with Zollinger-Ellison syndrome. F->S

Lost protein functional features of individual exon skipping events in MSBB.

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

Lost protein functional features of individual exon skipping events in Mayo.

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
O00255	400	454	1	615	Chain	ID=PRO_0000096411;Note=Menin
O00255	400	454	1	615	Chain	ID=PRO_0000096411;Note=Menin
O00255	400	454	1	615	Chain	ID=PRO_0000096411;Note=Menin
O00255	400	454	1	615	Chain	ID=PRO_0000096411;Note=Menin
O00255	400	454	408	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	408	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	408	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	408	410	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	412	429	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	412	429	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	412	429	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	412	429	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	439	450	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	439	450	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	439	450	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	439	450	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	454	457	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	454	457	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	454	457	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	454	457	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4GQ4
O00255	400	454	416	416	Natural variant	ID=VAR_039634;Note=In MEN1%3B also found in isolated hyperparathyroidism. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12699448;Dbxref=PMID:12699448
O00255	400	454	416	416	Natural variant	ID=VAR_039634;Note=In MEN1%3B also found in isolated hyperparathyroidism. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12699448;Dbxref=PMID:12699448
O00255	400	454	416	416	Natural variant	ID=VAR_039634;Note=In MEN1%3B also found in isolated hyperparathyroidism. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12699448;Dbxref=PMID:12699448
O00255	400	454	416	416	Natural variant	ID=VAR_039634;Note=In MEN1%3B also found in isolated hyperparathyroidism. A->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12699448;Dbxref=PMID:12699448
O00255	400	454	418	418	Natural variant	ID=VAR_065155;Note=In MEN1. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17555499;Dbxref=PMID:17555499
O00255	400	454	418	418	Natural variant	ID=VAR_065155;Note=In MEN1. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17555499;Dbxref=PMID:17555499
O00255	400	454	418	418	Natural variant	ID=VAR_065155;Note=In MEN1. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17555499;Dbxref=PMID:17555499
O00255	400	454	418	418	Natural variant	ID=VAR_065155;Note=In MEN1. L->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17555499;Dbxref=PMID:17555499
O00255	400	454	419	419	Natural variant	ID=VAR_039635;Note=In MEN1. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11241849,ECO:0000269\|PubMed:17555499;Dbxref=PMID:11241849,PMID:17555499
O00255	400	454	419	419	Natural variant	ID=VAR_039635;Note=In MEN1. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11241849,ECO:0000269\|PubMed:17555499;Dbxref=PMID:11241849,PMID:17555499
O00255	400	454	419	419	Natural variant	ID=VAR_039635;Note=In MEN1. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11241849,ECO:0000269\|PubMed:17555499;Dbxref=PMID:11241849,PMID:17555499
O00255	400	454	419	419	Natural variant	ID=VAR_039635;Note=In MEN1. L->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:11241849,ECO:0000269\|PubMed:17555499;Dbxref=PMID:11241849,PMID:17555499
O00255	400	454	420	420	Natural variant	ID=VAR_039636;Note=In MEN1. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10993647;Dbxref=PMID:10993647
O00255	400	454	420	420	Natural variant	ID=VAR_039636;Note=In MEN1. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10993647;Dbxref=PMID:10993647
O00255	400	454	420	420	Natural variant	ID=VAR_039636;Note=In MEN1. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10993647;Dbxref=PMID:10993647
O00255	400	454	420	420	Natural variant	ID=VAR_039636;Note=In MEN1. R->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10993647;Dbxref=PMID:10993647
O00255	400	454	423	426	Natural variant	ID=VAR_005463;Note=In MEN1. Missing
O00255	400	454	423	426	Natural variant	ID=VAR_005463;Note=In MEN1. Missing
O00255	400	454	423	426	Natural variant	ID=VAR_005463;Note=In MEN1. Missing
O00255	400	454	423	426	Natural variant	ID=VAR_005463;Note=In MEN1. Missing
O00255	400	454	423	423	Natural variant	ID=VAR_039637;Note=In MEN1. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15730416;Dbxref=dbSNP:rs104894264,PMID:15730416
O00255	400	454	423	423	Natural variant	ID=VAR_039637;Note=In MEN1. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15730416;Dbxref=dbSNP:rs104894264,PMID:15730416
O00255	400	454	423	423	Natural variant	ID=VAR_039637;Note=In MEN1. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15730416;Dbxref=dbSNP:rs104894264,PMID:15730416
O00255	400	454	423	423	Natural variant	ID=VAR_039637;Note=In MEN1. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15730416;Dbxref=dbSNP:rs104894264,PMID:15730416
O00255	400	454	423	423	Natural variant	ID=VAR_005461;Note=In MEN1. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12050235,ECO:0000269\|PubMed:12112656,ECO:0000269\|PubMed:12652570,ECO:0000269\|PubMed:9709921;Dbxref=dbSNP:rs104894264,PMID:12050235,P
O00255	400	454	423	423	Natural variant	ID=VAR_005461;Note=In MEN1. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12050235,ECO:0000269\|PubMed:12112656,ECO:0000269\|PubMed:12652570,ECO:0000269\|PubMed:9709921;Dbxref=dbSNP:rs104894264,PMID:12050235,P
O00255	400	454	423	423	Natural variant	ID=VAR_005461;Note=In MEN1. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12050235,ECO:0000269\|PubMed:12112656,ECO:0000269\|PubMed:12652570,ECO:0000269\|PubMed:9709921;Dbxref=dbSNP:rs104894264,PMID:12050235,P
O00255	400	454	423	423	Natural variant	ID=VAR_005461;Note=In MEN1. D->N;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12050235,ECO:0000269\|PubMed:12112656,ECO:0000269\|PubMed:12652570,ECO:0000269\|PubMed:9709921;Dbxref=dbSNP:rs104894264,PMID:12050235,P
O00255	400	454	423	423	Natural variant	ID=VAR_005462;Note=In MEN1. Missing
O00255	400	454	423	423	Natural variant	ID=VAR_005462;Note=In MEN1. Missing
O00255	400	454	423	423	Natural variant	ID=VAR_005462;Note=In MEN1. Missing
O00255	400	454	423	423	Natural variant	ID=VAR_005462;Note=In MEN1. Missing
O00255	400	454	426	426	Natural variant	ID=VAR_039638;Note=In MEN1. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs386134249,PMID:15714081
O00255	400	454	426	426	Natural variant	ID=VAR_039638;Note=In MEN1. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs386134249,PMID:15714081
O00255	400	454	426	426	Natural variant	ID=VAR_039638;Note=In MEN1. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs386134249,PMID:15714081
O00255	400	454	426	426	Natural variant	ID=VAR_039638;Note=In MEN1. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs386134249,PMID:15714081
O00255	400	454	428	428	Natural variant	ID=VAR_039639;Note=In MEN1. W->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9709985;Dbxref=PMID:9709985
O00255	400	454	428	428	Natural variant	ID=VAR_039639;Note=In MEN1. W->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9709985;Dbxref=PMID:9709985
O00255	400	454	428	428	Natural variant	ID=VAR_039639;Note=In MEN1. W->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9709985;Dbxref=PMID:9709985
O00255	400	454	428	428	Natural variant	ID=VAR_039639;Note=In MEN1. W->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:9709985;Dbxref=PMID:9709985
O00255	400	454	432	432	Natural variant	ID=VAR_039640;Note=In MEN1. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10660339;Dbxref=dbSNP:rs1114167528,PMID:10660339
O00255	400	454	432	432	Natural variant	ID=VAR_039640;Note=In MEN1. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10660339;Dbxref=dbSNP:rs1114167528,PMID:10660339
O00255	400	454	432	432	Natural variant	ID=VAR_039640;Note=In MEN1. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10660339;Dbxref=dbSNP:rs1114167528,PMID:10660339
O00255	400	454	432	432	Natural variant	ID=VAR_039640;Note=In MEN1. S->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10660339;Dbxref=dbSNP:rs1114167528,PMID:10660339
O00255	400	454	441	441	Natural variant	ID=VAR_039641;Note=In MEN1. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs398124435,PMID:15714081
O00255	400	454	441	441	Natural variant	ID=VAR_039641;Note=In MEN1. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs398124435,PMID:15714081
O00255	400	454	441	441	Natural variant	ID=VAR_039641;Note=In MEN1. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs398124435,PMID:15714081
O00255	400	454	441	441	Natural variant	ID=VAR_039641;Note=In MEN1. W->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15714081;Dbxref=dbSNP:rs398124435,PMID:15714081
O00255	400	454	441	441	Natural variant	ID=VAR_005464;Note=In MEN1%3B no effect on histone methylation%3B almost no effect on JUND-binding%3B modest repression of JUND transactivation. W->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14992727,ECO:00
O00255	400	454	441	441	Natural variant	ID=VAR_005464;Note=In MEN1%3B no effect on histone methylation%3B almost no effect on JUND-binding%3B modest repression of JUND transactivation. W->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14992727,ECO:00
O00255	400	454	441	441	Natural variant	ID=VAR_005464;Note=In MEN1%3B no effect on histone methylation%3B almost no effect on JUND-binding%3B modest repression of JUND transactivation. W->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14992727,ECO:00
O00255	400	454	441	441	Natural variant	ID=VAR_005464;Note=In MEN1%3B no effect on histone methylation%3B almost no effect on JUND-binding%3B modest repression of JUND transactivation. W->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:14992727,ECO:00
O00255	400	454	449	449	Natural variant	ID=VAR_039642;Note=In MEN1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10229909;Dbxref=PMID:10229909
O00255	400	454	449	449	Natural variant	ID=VAR_039642;Note=In MEN1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10229909;Dbxref=PMID:10229909
O00255	400	454	449	449	Natural variant	ID=VAR_039642;Note=In MEN1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10229909;Dbxref=PMID:10229909
O00255	400	454	449	449	Natural variant	ID=VAR_039642;Note=In MEN1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10229909;Dbxref=PMID:10229909
O00255	400	454	452	452	Natural variant	ID=VAR_005465;Note=In MEN1%3B sporadic%3B with Zollinger-Ellison syndrome. F->S
O00255	400	454	452	452	Natural variant	ID=VAR_005465;Note=In MEN1%3B sporadic%3B with Zollinger-Ellison syndrome. F->S
O00255	400	454	452	452	Natural variant	ID=VAR_005465;Note=In MEN1%3B sporadic%3B with Zollinger-Ellison syndrome. F->S
O00255	400	454	452	452	Natural variant	ID=VAR_005465;Note=In MEN1%3B sporadic%3B with Zollinger-Ellison syndrome. F->S

Top

3'-UTR located exon skipping events that lost miRNA binding sites in MEN1

3'-UTR exon skipping evnets lost miRNA binding.

Tissue type

ENST

Exon skip start

Exon skip end

microRNA

Binding site by TargetScan

Binding type by TargetScan

Bdinding site by miRanda

Score of miRanda

Energy by miRanda

Top

SNVs in the skipped exons for MEN1

- Differential PSIs between mutated versus non-mutated samples.

- Depth of Coverage in the skipped exon of the mutated samples.

- Sashimi plot in the skipped exon of the mutated samples.

- Non-synonymous mutations located in the skipped exons.

Cancer type

Sample

ESID

Skipped exon start

Skipped exon end

Mutation start

Mutation end

Mutation type

Reference seq

Mutation seq

AAchange

- 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

Top

AD stage-associated exon skippint events for MEN1

Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).

AD stage info

Cohort

Tissue

SE id

Coefficient

P-value

Chromosome

Strand

E1 start

E1 end

Skipped start

Skipped end

E2 start

E2 end

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MEN1

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

Top

Correlation with RNA binding proteins (RBPs) for MEN1

Correlated RBP and related information.

Tissue type

RBP name

Exon skip ID

Correlation coeifficient

P-value

Top

RelatedDrugs for MEN1

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

Top

RelatedDiseases for MEN1

Diseases associated with this gene.
(DisGeNet 4.0)

Gene

Disease ID

Disease name

# pubmeds

Source

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	3'-UTR located exon skipping events lost miRNA binding sites
	SNVs in the skipped exons with depth of coverage
	AD stage-associated exon skipping events
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Correlation with RNA binding proteins (RBPs)
	Related drugs with this gene
	Related diseases with this gene

Home

Download

Statistics

Landscape

Help

Contact

Gene summary for MEN1

Gene structures and expression levels for MEN1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MEN1

Open reading frame (ORF) annotation in the exon skipping event for MEN1

Infer the effects of exon skipping event on protein functional features for MEN1

3'-UTR located exon skipping events that lost miRNA binding sites in MEN1

SNVs in the skipped exons for MEN1

AD stage-associated exon skippint events for MEN1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MEN1

Correlation with RNA binding proteins (RBPs) for MEN1

RelatedDrugs for MEN1

RelatedDiseases for MEN1