ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for NUMB

Gene summary

Gene information	Gene symbol	NUMB
	Gene ID	8650
	Gene name	NUMB endocytic adaptor protein
	Synonyms	C14orf41\|S171\|c14_5527
	Cytomap	14q24.2-q24.3
	Type of gene	protein-coding
	Description	protein numb homologh-Numbnumb homolog
	Modification date	20200313
	UniProtAcc	A0A024R681, A0A024R684, A0A024R6C4, A0A024R6F4, G3V3M5, G3V3R1, G3V3Z8, G3V433, G3V4S6, P49757,
	Context

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

Gene

GO ID

GO term

PubMed ID

Top

Gene structures and expression levels for NUMB

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.

ENSG00000133961

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
STG	UP	ENST00000535282.5	NUMB-204:protein_coding:NUMB	2.414493e+01	2.390160e+01	5.126062e-43	5.253252e-39
CB	DOWN	ENST00000544991.7	NUMB-205:protein_coding:NUMB	3.796767e+02	-1.294266e+00	1.909925e-05	1.819651e-04
CB	DOWN	ENST00000556989.1	NUMB-222:retained_intron:NUMB	9.845268e+00	-1.409279e+00	5.214560e-04	2.986512e-03
CB	UP	ENST00000555859.5	NUMB-217:protein_coding:NUMB	1.495262e+00	1.366549e+00	2.450779e-03	1.090634e-02
TC	DOWN	ENST00000544991.7	NUMB-205:protein_coding:NUMB	2.503057e+02	-9.106806e-01	1.057653e-03	1.033358e-02

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

Top

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

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_105490	chr14	73292734:73292874:73297211:73297285:73316390:73316422	73297211:73297285
exon_skip_118765	chr14	73297261:73297285:73316390:73316422:73323130:73323204	73316390:73316422
exon_skip_118987	chr14	73276549:73277293:73282359:73282505:73287110:73287314	73282359:73282505
exon_skip_141114	chr14	73292734:73292874:73297211:73297285:73323130:73323204	73297211:73297285
exon_skip_141382	chr14	73282359:73282505:73284081:73284374:73287110:73287173	73284081:73284374
exon_skip_16760	chr14	73297211:73297285:73323130:73323204:73355626:73355641	73323130:73323204
exon_skip_172845	chr14	73277209:73277293:73279281:73279424:73282359:73282505	73279281:73279424
exon_skip_182748	chr14	73297211:73297285:73323130:73323229:73355626:73355766	73323130:73323229
exon_skip_198167	chr14	73275218:73277293:73279281:73279424:73282359:73282505	73279281:73279424
exon_skip_20118	chr14	73276368:73277293:73279281:73279424:73282359:73282505	73279281:73279424
exon_skip_205272	chr14	73355754:73355766:73366897:73366981:73409937:73410068	73366897:73366981
exon_skip_206401	chr14	73277209:73277293:73282359:73282505:73287110:73287173	73282359:73282505
exon_skip_241816	chr14	73355626:73355766:73366897:73366981:73409937:73410068	73366897:73366981
exon_skip_242605	chr14	73287110:73287314:73292734:73292874:73297211:73297285	73292734:73292874
exon_skip_250875	chr14	73297261:73297285:73323130:73323204:73355626:73355766	73323130:73323204
exon_skip_35022	chr14	73277209:73277293:73287110:73287314:73292734:73292874	73287110:73287314
exon_skip_78440	chr14	73297211:73297285:73323130:73323204:73355626:73355766	73323130:73323204

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 NUMB

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
ENST00000555238	73366897	73366981	3UTR-3UTR
ENST00000355058	73279281	73279424	In-frame
ENST00000555238	73279281	73279424	In-frame
ENST00000355058	73284081	73284374	In-frame
ENST00000555238	73284081	73284374	In-frame
ENST00000355058	73292734	73292874	In-frame
ENST00000555238	73292734	73292874	In-frame
ENST00000355058	73297211	73297285	In-frame
ENST00000555238	73297211	73297285	In-frame
ENST00000355058	73316390	73316422	In-frame
ENST00000555238	73316390	73316422	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
ENST00000555238	73366897	73366981	3UTR-3UTR
ENST00000355058	73284081	73284374	In-frame
ENST00000555238	73284081	73284374	In-frame
ENST00000355058	73316390	73316422	In-frame
ENST00000555238	73316390	73316422	In-frame

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
ENST00000555238	73366897	73366981	3UTR-3UTR
ENST00000355058	73279281	73279424	In-frame
ENST00000555238	73279281	73279424	In-frame
ENST00000355058	73284081	73284374	In-frame
ENST00000555238	73284081	73284374	In-frame
ENST00000355058	73292734	73292874	In-frame
ENST00000555238	73292734	73292874	In-frame
ENST00000355058	73316390	73316422	In-frame
ENST00000555238	73316390	73316422	In-frame

Top

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

p-ENSG00000133961_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
ENST00000355058	3359	651	73316390	73316422	220	251	67	77
ENST00000555238	3605	651	73316390	73316422	472	503	67	77
ENST00000355058	3359	651	73297211	73297285	253	326	78	102
ENST00000555238	3605	651	73297211	73297285	505	578	78	102
ENST00000355058	3359	651	73292734	73292874	328	467	103	149
ENST00000555238	3605	651	73292734	73292874	580	719	103	149
ENST00000355058	3359	651	73284081	73284374	674	966	218	316
ENST00000555238	3605	651	73284081	73284374	926	1218	218	316
ENST00000355058	3359	651	73279281	73279424	1115	1257	365	413
ENST00000555238	3605	651	73279281	73279424	1367	1509	365	413

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
ENST00000355058	3359	651	73316390	73316422	220	251	67	77
ENST00000555238	3605	651	73316390	73316422	472	503	67	77
ENST00000355058	3359	651	73284081	73284374	674	966	218	316
ENST00000555238	3605	651	73284081	73284374	926	1218	218	316

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
ENST00000355058	3359	651	73316390	73316422	220	251	67	77
ENST00000555238	3605	651	73316390	73316422	472	503	67	77
ENST00000355058	3359	651	73292734	73292874	328	467	103	149
ENST00000555238	3605	651	73292734	73292874	580	719	103	149
ENST00000355058	3359	651	73284081	73284374	674	966	218	316
ENST00000555238	3605	651	73284081	73284374	926	1218	218	316
ENST00000355058	3359	651	73279281	73279424	1115	1257	365	413
ENST00000555238	3605	651	73279281	73279424	1367	1509	365	413

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
P49757	67	77	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	67	77	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	67	77	68	78	Alternative sequence	ID=VSP_004348;Note=In isoform 3%2C isoform 4%2C isoform 6 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10468633,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:21486681;Dbxref=PMID:10468633,PMID:15489
P49757	67	77	68	78	Alternative sequence	ID=VSP_004348;Note=In isoform 3%2C isoform 4%2C isoform 6 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10468633,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:21486681;Dbxref=PMID:10468633,PMID:15489
P49757	67	77	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	67	77	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	67	77	33	193	Domain	Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
P49757	67	77	33	193	Domain	Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
P49757	67	77	55	71	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	67	77	55	71	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	67	77	77	79	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJK
P49757	67	77	77	79	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJK
P49757	67	77	68	68	Sequence conflict	Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
P49757	67	77	68	68	Sequence conflict	Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
P49757	67	77	72	74	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	67	77	72	74	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	78	102	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	78	102	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	78	102	68	78	Alternative sequence	ID=VSP_004348;Note=In isoform 3%2C isoform 4%2C isoform 6 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10468633,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:21486681;Dbxref=PMID:10468633,PMID:15489
P49757	78	102	68	78	Alternative sequence	ID=VSP_004348;Note=In isoform 3%2C isoform 4%2C isoform 6 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10468633,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:21486681;Dbxref=PMID:10468633,PMID:15489
P49757	78	102	84	90	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	78	102	84	90	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	78	102	92	99	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	78	102	92	99	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	78	102	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	78	102	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	78	102	33	193	Domain	Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
P49757	78	102	33	193	Domain	Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
P49757	78	102	77	79	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJK
P49757	78	102	77	79	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJK
P49757	78	102	100	102	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	78	102	100	102	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	103	149	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	103	149	105	110	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	105	110	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	114	119	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	114	119	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	126	133	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	126	133	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	138	149	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	138	149	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	103	149	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	103	149	33	193	Domain	Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
P49757	103	149	33	193	Domain	Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
P49757	103	149	111	113	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	111	113	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	134	137	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	134	137	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	218	316	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	218	316	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	218	316	219	316	Alternative sequence	ID=VSP_047756;Note=In isoform 5%2C isoform 6%2C isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21486681;Dbxref=PMID:21486681
P49757	218	316	219	316	Alternative sequence	ID=VSP_047756;Note=In isoform 5%2C isoform 6%2C isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21486681;Dbxref=PMID:21486681
P49757	218	316	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	218	316	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	218	316	243	243	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9QZS3
P49757	218	316	243	243	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9QZS3
P49757	218	316	244	244	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P49757	218	316	244	244	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P49757	218	316	276	276	Modified residue	Note=Phosphoserine%3B by CaMK1;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q2LC84
P49757	218	316	276	276	Modified residue	Note=Phosphoserine%3B by CaMK1;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q2LC84
P49757	218	316	295	295	Modified residue	Note=Phosphoserine%3B by CaMK1;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q2LC84
P49757	218	316	295	295	Modified residue	Note=Phosphoserine%3B by CaMK1;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q2LC84
P49757	365	413	317	365	Alternative sequence	ID=VSP_053763;Note=In isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21486681;Dbxref=PMID:21486681
P49757	365	413	317	365	Alternative sequence	ID=VSP_053763;Note=In isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21486681;Dbxref=PMID:21486681
P49757	365	413	366	413	Alternative sequence	ID=VSP_004349;Note=In isoform 2%2C isoform 4%2C isoform 5%2C isoform 6%2C isoform 7%2C isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10468633,ECO:0000303\|
P49757	365	413	366	413	Alternative sequence	ID=VSP_004349;Note=In isoform 2%2C isoform 4%2C isoform 5%2C isoform 6%2C isoform 7%2C isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10468633,ECO:0000303\|
P49757	365	413	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	365	413	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	365	413	387	387	Natural variant	ID=VAR_051249;Note=V->I;Dbxref=dbSNP:rs17182272
P49757	365	413	387	387	Natural variant	ID=VAR_051249;Note=V->I;Dbxref=dbSNP:rs17182272

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
P49757	67	77	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	67	77	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	67	77	68	78	Alternative sequence	ID=VSP_004348;Note=In isoform 3%2C isoform 4%2C isoform 6 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10468633,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:21486681;Dbxref=PMID:10468633,PMID:15489
P49757	67	77	68	78	Alternative sequence	ID=VSP_004348;Note=In isoform 3%2C isoform 4%2C isoform 6 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10468633,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:21486681;Dbxref=PMID:10468633,PMID:15489
P49757	67	77	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	67	77	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	67	77	33	193	Domain	Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
P49757	67	77	33	193	Domain	Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
P49757	67	77	55	71	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	67	77	55	71	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	67	77	77	79	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJK
P49757	67	77	77	79	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJK
P49757	67	77	68	68	Sequence conflict	Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
P49757	67	77	68	68	Sequence conflict	Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
P49757	67	77	72	74	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	67	77	72	74	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	218	316	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	218	316	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	218	316	219	316	Alternative sequence	ID=VSP_047756;Note=In isoform 5%2C isoform 6%2C isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21486681;Dbxref=PMID:21486681
P49757	218	316	219	316	Alternative sequence	ID=VSP_047756;Note=In isoform 5%2C isoform 6%2C isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21486681;Dbxref=PMID:21486681
P49757	218	316	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	218	316	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	218	316	243	243	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9QZS3
P49757	218	316	243	243	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9QZS3
P49757	218	316	244	244	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P49757	218	316	244	244	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P49757	218	316	276	276	Modified residue	Note=Phosphoserine%3B by CaMK1;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q2LC84
P49757	218	316	276	276	Modified residue	Note=Phosphoserine%3B by CaMK1;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q2LC84
P49757	218	316	295	295	Modified residue	Note=Phosphoserine%3B by CaMK1;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q2LC84
P49757	218	316	295	295	Modified residue	Note=Phosphoserine%3B by CaMK1;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q2LC84

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
P49757	67	77	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	67	77	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	67	77	68	78	Alternative sequence	ID=VSP_004348;Note=In isoform 3%2C isoform 4%2C isoform 6 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10468633,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:21486681;Dbxref=PMID:10468633,PMID:15489
P49757	67	77	68	78	Alternative sequence	ID=VSP_004348;Note=In isoform 3%2C isoform 4%2C isoform 6 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10468633,ECO:0000303\|PubMed:15489334,ECO:0000303\|PubMed:21486681;Dbxref=PMID:10468633,PMID:15489
P49757	67	77	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	67	77	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	67	77	33	193	Domain	Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
P49757	67	77	33	193	Domain	Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
P49757	67	77	55	71	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	67	77	55	71	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	67	77	77	79	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJK
P49757	67	77	77	79	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJK
P49757	67	77	68	68	Sequence conflict	Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
P49757	67	77	68	68	Sequence conflict	Note=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
P49757	67	77	72	74	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	67	77	72	74	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	103	149	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	103	149	105	110	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	105	110	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	114	119	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	114	119	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	126	133	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	126	133	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	138	149	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	138	149	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	103	149	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	103	149	33	193	Domain	Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
P49757	103	149	33	193	Domain	Note=PID;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00148
P49757	103	149	111	113	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	111	113	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	134	137	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	103	149	134	137	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5NJJ
P49757	218	316	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	218	316	1	254	Alternative sequence	ID=VSP_053745;Note=In isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:14702039,ECO:0000303\|PubMed:21486681;Dbxref=PMID:14702039,PMID:21486681
P49757	218	316	219	316	Alternative sequence	ID=VSP_047756;Note=In isoform 5%2C isoform 6%2C isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21486681;Dbxref=PMID:21486681
P49757	218	316	219	316	Alternative sequence	ID=VSP_047756;Note=In isoform 5%2C isoform 6%2C isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21486681;Dbxref=PMID:21486681
P49757	218	316	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	218	316	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	218	316	243	243	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9QZS3
P49757	218	316	243	243	Modified residue	Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q9QZS3
P49757	218	316	244	244	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P49757	218	316	244	244	Modified residue	Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244\|PubMed:18669648;Dbxref=PMID:18669648
P49757	218	316	276	276	Modified residue	Note=Phosphoserine%3B by CaMK1;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q2LC84
P49757	218	316	276	276	Modified residue	Note=Phosphoserine%3B by CaMK1;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q2LC84
P49757	218	316	295	295	Modified residue	Note=Phosphoserine%3B by CaMK1;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q2LC84
P49757	218	316	295	295	Modified residue	Note=Phosphoserine%3B by CaMK1;Ontology_term=ECO:0000250;evidence=ECO:0000250\|UniProtKB:Q2LC84
P49757	365	413	317	365	Alternative sequence	ID=VSP_053763;Note=In isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21486681;Dbxref=PMID:21486681
P49757	365	413	317	365	Alternative sequence	ID=VSP_053763;Note=In isoform 7 and isoform 8. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:21486681;Dbxref=PMID:21486681
P49757	365	413	366	413	Alternative sequence	ID=VSP_004349;Note=In isoform 2%2C isoform 4%2C isoform 5%2C isoform 6%2C isoform 7%2C isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10468633,ECO:0000303\|
P49757	365	413	366	413	Alternative sequence	ID=VSP_004349;Note=In isoform 2%2C isoform 4%2C isoform 5%2C isoform 6%2C isoform 7%2C isoform 8 and isoform 9. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:10468633,ECO:0000303\|
P49757	365	413	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	365	413	1	651	Chain	ID=PRO_0000058001;Note=Protein numb homolog
P49757	365	413	387	387	Natural variant	ID=VAR_051249;Note=V->I;Dbxref=dbSNP:rs17182272
P49757	365	413	387	387	Natural variant	ID=VAR_051249;Note=V->I;Dbxref=dbSNP:rs17182272

Top

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

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
Mayo	ENST00000555238	73366897	73366981	hsa-miR-3188	chr14:73366964-73366971	8mer-1a	chr14:73366949-73366971	173.00	-23.32
Mayo	ENST00000555238	73366897	73366981	hsa-miR-4670-3p	chr14:73366954-73366961	8mer-1a	chr14:73366949-73366971	173.00	-23.32
MSBB	ENST00000555238	73366897	73366981	hsa-miR-3188	chr14:73366964-73366971	8mer-1a	chr14:73366949-73366971	173.00	-23.32
MSBB	ENST00000555238	73366897	73366981	hsa-miR-4670-3p	chr14:73366954-73366961	8mer-1a	chr14:73366949-73366971	173.00	-23.32
ROSMAP	ENST00000555238	73366897	73366981	hsa-miR-3188	chr14:73366964-73366971	8mer-1a	chr14:73366949-73366971	173.00	-23.32
ROSMAP	ENST00000555238	73366897	73366981	hsa-miR-4670-3p	chr14:73366954-73366961	8mer-1a	chr14:73366949-73366971	173.00	-23.32

Top

SNVs in the skipped exons for NUMB

- 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 NUMB

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 NUMB

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 NUMB

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
CB	ZNF638	exon_skip_16310	4.639065e-01	8.364530e-08
CB	RBM6	exon_skip_16310	4.399824e-01	4.428059e-07
CB	CNOT4	exon_skip_16310	4.086947e-01	3.257534e-06
CB	RBM3	exon_skip_16310	-4.893448e-01	1.229456e-08
CB	TRA2A	exon_skip_16310	4.776212e-01	3.033268e-08
CB	NUP42	exon_skip_16310	-4.324138e-01	7.309756e-07
CB	RBM4	exon_skip_16310	5.643733e-01	1.566332e-11
CB	CNOT4	exon_skip_241816	-4.485579e-01	5.408093e-09
CB	RBM3	exon_skip_241816	4.161240e-01	7.990657e-08
CB	RBM45	exon_skip_241816	6.826223e-01	1.852410e-22
HCC	RBM3	exon_skip_16310	-4.598372e-01	1.356035e-12
HCC	RBM3	exon_skip_241816	5.123315e-01	1.321615e-19
IFG	UNK	exon_skip_141382	5.111765e-01	5.436000e-03
IFG	RALYL	exon_skip_118765	-4.118960e-01	2.941332e-02
IFG	RBM3	exon_skip_241816	4.176737e-01	3.017439e-02
IFG	FXR2	exon_skip_241816	-4.131503e-01	3.219738e-02
PCC	RBM3	exon_skip_241816	5.420644e-01	2.324802e-17
TC	RALYL	exon_skip_118765	-4.236952e-01	4.369731e-08
TC	RBM3	exon_skip_205272	4.428673e-01	7.074529e-09

Top

RelatedDrugs for NUMB

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 NUMB

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 NUMB

Gene structures and expression levels for NUMB

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

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

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

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

SNVs in the skipped exons for NUMB

AD stage-associated exon skippint events for NUMB

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

Correlation with RNA binding proteins (RBPs) for NUMB

RelatedDrugs for NUMB

RelatedDiseases for NUMB