ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for GRB10

Gene summary

Gene information	Gene symbol	GRB10
	Gene ID	2887
	Gene name	growth factor receptor bound protein 10
	Synonyms	GRB-IR\|Grb-10\|IRBP\|MEG1\|RSS
	Cytomap	7p12.1
	Type of gene	protein-coding
	Description	growth factor receptor-bound protein 10GRB10 adapter proteinGRB10 adaptor proteininsulin receptor-binding protein Grb-IRmaternally expressed gene 1
	Modification date	20200327
	UniProtAcc	A0A2R8Y6Q4, A0A2R8YCL1, C9JTW6, H7C3B9, Q13322, Q75M93, Q75MT1,
	Context

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

Gene	GO ID	GO term	PubMed ID
GRB10	GO:0030178	negative regulation of Wnt signaling pathway	17376403
GRB10	GO:0030949	positive regulation of vascular endothelial growth factor receptor signaling pathway	15060076

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Gene structures and expression levels for GRB10

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.

ENSG00000106070

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	ENST00000398812.6	GRB10-204:protein_coding:GRB10	2.519445e+01	2.960788e+00	5.666710e-04	9.642001e-03
CB	UP	ENST00000357271.9	GRB10-202:protein_coding:GRB10	1.373749e+01	1.197938e+00	6.815734e-09	2.181748e-07
TC	UP	ENST00000357271.9	GRB10-202:protein_coding:GRB10	1.658149e+00	1.501773e+00	4.190075e-04	5.006253e-03

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

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GRB10

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_101124	chr7	50710875:50710990:50732272:50732368:50793224:50793313	50732272:50732368
exon_skip_107884	chr7	50703821:50703908:50732272:50732368:50755887:50755903	50732272:50732368
exon_skip_110960	chr7	50703821:50703908:50710875:50710990:50732272:50732353	50710875:50710990
exon_skip_117419	chr7	50703821:50703908:50755887:50756056:50793224:50793313	50755887:50756056
exon_skip_117973	chr7	50605290:50605406:50606337:50606414:50612741:50612839	50606337:50606414
exon_skip_118553	chr7	50595470:50595530:50603998:50604085:50604311:50604377	50603998:50604085
exon_skip_124146	chr7	50755892:50756056:50780627:50780736:50782424:50782445	50780627:50780736
exon_skip_135455	chr7	50616210:50616347:50618071:50618139:50619170:50619285	50618071:50618139
exon_skip_147631	chr7	50614770:50614880:50616210:50616347:50618071:50618139	50616210:50616347
exon_skip_165297	chr7	50703821:50703908:50705140:50705323:50710875:50710990	50705140:50705323
exon_skip_169212	chr7	50703821:50703908:50710875:50710990:50755887:50755903	50710875:50710990
exon_skip_175404	chr7	50674651:50674658:50703821:50703908:50732272:50732353	50703821:50703908
exon_skip_176653	chr7	50674500:50674658:50703821:50703908:50726013:50726035	50703821:50703908
exon_skip_180141	chr7	50710875:50710990:50732272:50732368:50755887:50755903	50732272:50732368
exon_skip_181673	chr7	50674651:50674658:50703821:50703908:50755887:50755903	50703821:50703908
exon_skip_200051	chr7	50674651:50674658:50703821:50703908:50726013:50726035	50703821:50703908
exon_skip_214812	chr7	50779457:50779591:50779744:50779775:50780627:50780736	50779744:50779775
exon_skip_216192	chr7	50703821:50703908:50705140:50705323:50755887:50755903	50705140:50705323
exon_skip_248285	chr7	50726013:50726035:50727793:50727890:50755887:50755903	50727793:50727890
exon_skip_258663	chr7	50705140:50705323:50710875:50710990:50732272:50732353	50710875:50710990
exon_skip_259209	chr7	50626822:50626978:50669722:50669863:50674436:50674658	50669722:50669863
exon_skip_281976	chr7	50755892:50756056:50780627:50780736:50793224:50793437	50780627:50780736
exon_skip_404	chr7	50603998:50604085:50604311:50604377:50605290:50605406	50604311:50604377
exon_skip_42743	chr7	50703821:50703908:50755887:50756056:50793224:50793278	50755887:50756056
exon_skip_48149	chr7	50703821:50703908:50705140:50705323:50726013:50726035	50705140:50705323
exon_skip_54710	chr7	50703821:50703908:50755887:50756056:50793224:50793436	50755887:50756056
exon_skip_64275	chr7	50705140:50705323:50755887:50756056:50782424:50782445	50755887:50756056
exon_skip_70794	chr7	50612741:50612839:50614770:50614880:50618071:50618139	50614770:50614880
exon_skip_72486	chr7	50703821:50703908:50726013:50726035:50727793:50727890	50726013:50726035
exon_skip_83983	chr7	50732272:50732368:50755887:50756056:50780627:50780736	50755887:50756056

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

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Open reading frame (ORF) annotation in the exon skipping event for GRB10

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
ENST00000401949	50732272	50732368	3UTR-3CDS
ENST00000401949	50755887	50756056	3UTR-3UTR
ENST00000401949	50780627	50780736	3UTR-3UTR
ENST00000398812	50669722	50669863	Frame-shift
ENST00000401949	50669722	50669863	Frame-shift
ENST00000398812	50703821	50703908	Frame-shift
ENST00000401949	50703821	50703908	Frame-shift
ENST00000398812	50606337	50606414	In-frame
ENST00000401949	50606337	50606414	In-frame
ENST00000398812	50616210	50616347	In-frame
ENST00000401949	50616210	50616347	In-frame
ENST00000398812	50618071	50618139	In-frame
ENST00000401949	50618071	50618139	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
ENST00000401949	50732272	50732368	3UTR-3CDS
ENST00000401949	50780627	50780736	3UTR-3UTR
ENST00000398812	50669722	50669863	Frame-shift
ENST00000401949	50669722	50669863	Frame-shift
ENST00000398812	50703821	50703908	Frame-shift
ENST00000401949	50703821	50703908	Frame-shift
ENST00000398812	50616210	50616347	In-frame
ENST00000401949	50616210	50616347	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
ENST00000401949	50732272	50732368	3UTR-3CDS
ENST00000401949	50755887	50756056	3UTR-3UTR
ENST00000401949	50780627	50780736	3UTR-3UTR
ENST00000398812	50603998	50604085	Frame-shift
ENST00000401949	50603998	50604085	Frame-shift
ENST00000398812	50604311	50604377	Frame-shift
ENST00000401949	50604311	50604377	Frame-shift
ENST00000398812	50669722	50669863	Frame-shift
ENST00000401949	50669722	50669863	Frame-shift
ENST00000398812	50703821	50703908	Frame-shift
ENST00000401949	50703821	50703908	Frame-shift
ENST00000398812	50606337	50606414	In-frame
ENST00000401949	50606337	50606414	In-frame
ENST00000398812	50616210	50616347	In-frame
ENST00000401949	50616210	50616347	In-frame

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Infer the effects of exon skipping event on protein functional features for GRB10

p-ENSG00000106070_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
ENST00000398812	4722	594	50618071	50618139	809	876	259	281
ENST00000401949	2644	594	50618071	50618139	1248	1315	259	281
ENST00000398812	4722	594	50616210	50616347	878	1014	282	327
ENST00000401949	2644	594	50616210	50616347	1317	1453	282	327
ENST00000398812	4722	594	50606337	50606414	1226	1302	398	423
ENST00000401949	2644	594	50606337	50606414	1665	1741	398	423

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
ENST00000398812	4722	594	50616210	50616347	878	1014	282	327
ENST00000401949	2644	594	50616210	50616347	1317	1453	282	327

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
ENST00000398812	4722	594	50616210	50616347	878	1014	282	327
ENST00000401949	2644	594	50616210	50616347	1317	1453	282	327
ENST00000398812	4722	594	50606337	50606414	1226	1302	398	423
ENST00000401949	2644	594	50606337	50606414	1665	1741	398	423

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
Q13322	259	281	266	269	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	259	281	266	269	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	259	281	1	594	Chain	ID=PRO_0000150346;Note=Growth factor receptor-bound protein 10
Q13322	259	281	1	594	Chain	ID=PRO_0000150346;Note=Growth factor receptor-bound protein 10
Q13322	259	281	258	260	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	259	281	258	260	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	259	281	281	285	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	259	281	281	285	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	283	328	Alternative sequence	ID=VSP_001843;Note=In isoform 1. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:7479769,ECO:0000303\|PubMed:9753425;Dbxref=PMID:7479769,PMID:9753425
Q13322	282	327	283	328	Alternative sequence	ID=VSP_001843;Note=In isoform 1. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:7479769,ECO:0000303\|PubMed:9753425;Dbxref=PMID:7479769,PMID:9753425
Q13322	282	327	291	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	291	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	307	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	307	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	318	324	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	318	324	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	1	594	Chain	ID=PRO_0000150346;Note=Growth factor receptor-bound protein 10
Q13322	282	327	1	594	Chain	ID=PRO_0000150346;Note=Growth factor receptor-bound protein 10
Q13322	282	327	290	399	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q13322	282	327	290	399	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q13322	282	327	281	285	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	281	285	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	300	300	Mutagenesis	Note=2-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	282	327	300	300	Mutagenesis	Note=2-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	282	327	305	305	Mutagenesis	Note=5-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	282	327	305	305	Mutagenesis	Note=5-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	282	327	308	308	Mutagenesis	Note=5-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	282	327	308	308	Mutagenesis	Note=5-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	398	423	1	594	Chain	ID=PRO_0000150346;Note=Growth factor receptor-bound protein 10
Q13322	398	423	1	594	Chain	ID=PRO_0000150346;Note=Growth factor receptor-bound protein 10
Q13322	398	423	290	399	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q13322	398	423	290	399	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q13322	398	423	384	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	398	423	384	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	398	423	401	407	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	398	423	401	407	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	398	423	418	418	Modified residue	Note=Phosphoserine%3B by MAPK1 and MAPK3%3B in vitro;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:18220336,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163,ECO:0000269\|PubMed:15952796;Dbxref=PMID:1822033
Q13322	398	423	418	418	Modified residue	Note=Phosphoserine%3B by MAPK1 and MAPK3%3B in vitro;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:18220336,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163,ECO:0000269\|PubMed:15952796;Dbxref=PMID:1822033
Q13322	398	423	418	418	Mutagenesis	Note=No net loss of phosphorylation%2C this may be due to a compensatory phosphorylation of T-422 in vitro. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952796;Dbxref=PMID:15952796
Q13322	398	423	418	418	Mutagenesis	Note=No net loss of phosphorylation%2C this may be due to a compensatory phosphorylation of T-422 in vitro. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952796;Dbxref=PMID:15952796
Q13322	398	423	400	400	Sequence conflict	Note=G->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13322	398	423	400	400	Sequence conflict	Note=G->E;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q13322	282	327	283	328	Alternative sequence	ID=VSP_001843;Note=In isoform 1. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:7479769,ECO:0000303\|PubMed:9753425;Dbxref=PMID:7479769,PMID:9753425
Q13322	282	327	283	328	Alternative sequence	ID=VSP_001843;Note=In isoform 1. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:7479769,ECO:0000303\|PubMed:9753425;Dbxref=PMID:7479769,PMID:9753425
Q13322	282	327	291	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	291	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	307	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	307	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	318	324	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	318	324	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	1	594	Chain	ID=PRO_0000150346;Note=Growth factor receptor-bound protein 10
Q13322	282	327	1	594	Chain	ID=PRO_0000150346;Note=Growth factor receptor-bound protein 10
Q13322	282	327	290	399	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q13322	282	327	290	399	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q13322	282	327	281	285	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	281	285	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	300	300	Mutagenesis	Note=2-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	282	327	300	300	Mutagenesis	Note=2-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	282	327	305	305	Mutagenesis	Note=5-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	282	327	305	305	Mutagenesis	Note=5-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	282	327	308	308	Mutagenesis	Note=5-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	282	327	308	308	Mutagenesis	Note=5-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926

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
Q13322	282	327	283	328	Alternative sequence	ID=VSP_001843;Note=In isoform 1. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:7479769,ECO:0000303\|PubMed:9753425;Dbxref=PMID:7479769,PMID:9753425
Q13322	282	327	283	328	Alternative sequence	ID=VSP_001843;Note=In isoform 1. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:7479769,ECO:0000303\|PubMed:9753425;Dbxref=PMID:7479769,PMID:9753425
Q13322	282	327	291	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	291	300	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	307	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	307	315	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	318	324	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	318	324	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	1	594	Chain	ID=PRO_0000150346;Note=Growth factor receptor-bound protein 10
Q13322	282	327	1	594	Chain	ID=PRO_0000150346;Note=Growth factor receptor-bound protein 10
Q13322	282	327	290	399	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q13322	282	327	290	399	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q13322	282	327	281	285	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	281	285	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	282	327	300	300	Mutagenesis	Note=2-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	282	327	300	300	Mutagenesis	Note=2-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	282	327	305	305	Mutagenesis	Note=5-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	282	327	305	305	Mutagenesis	Note=5-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	282	327	308	308	Mutagenesis	Note=5-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	282	327	308	308	Mutagenesis	Note=5-fold loss of inositide-binding. K->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:19648926;Dbxref=PMID:19648926
Q13322	398	423	1	594	Chain	ID=PRO_0000150346;Note=Growth factor receptor-bound protein 10
Q13322	398	423	1	594	Chain	ID=PRO_0000150346;Note=Growth factor receptor-bound protein 10
Q13322	398	423	290	399	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q13322	398	423	290	399	Domain	Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00145
Q13322	398	423	384	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	398	423	384	399	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	398	423	401	407	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	398	423	401	407	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:3HK0
Q13322	398	423	418	418	Modified residue	Note=Phosphoserine%3B by MAPK1 and MAPK3%3B in vitro;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:18220336,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163,ECO:0000269\|PubMed:15952796;Dbxref=PMID:1822033
Q13322	398	423	418	418	Modified residue	Note=Phosphoserine%3B by MAPK1 and MAPK3%3B in vitro;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244\|PubMed:18220336,ECO:0000244\|PubMed:18669648,ECO:0000244\|PubMed:23186163,ECO:0000269\|PubMed:15952796;Dbxref=PMID:1822033
Q13322	398	423	418	418	Mutagenesis	Note=No net loss of phosphorylation%2C this may be due to a compensatory phosphorylation of T-422 in vitro. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952796;Dbxref=PMID:15952796
Q13322	398	423	418	418	Mutagenesis	Note=No net loss of phosphorylation%2C this may be due to a compensatory phosphorylation of T-422 in vitro. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15952796;Dbxref=PMID:15952796
Q13322	398	423	400	400	Sequence conflict	Note=G->E;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q13322	398	423	400	400	Sequence conflict	Note=G->E;Ontology_term=ECO:0000305;evidence=ECO:0000305

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3'-UTR located exon skipping events that lost miRNA binding sites in GRB10

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	ENST00000401949	50780627	50780736	hsa-miR-7856-5p	chr7:50780669-50780676	8mer-1a	chr7:50780663-50780683	159.00	-22.56
Mayo	ENST00000401949	50780627	50780736	hsa-miR-3664-3p	chr7:50780704-50780711	8mer-1a	chr7:50780690-50780711	155.00	-19.61
Mayo	ENST00000401949	50755887	50756056	hsa-miR-6765-3p	chr7:50755951-50755958	8mer-1a	chr7:50755946-50755966	147.00	-18.73
Mayo	ENST00000401949	50780627	50780736	hsa-miR-1273h-5p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
Mayo	ENST00000401949	50780627	50780736	hsa-miR-6779-5p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
Mayo	ENST00000401949	50780627	50780736	hsa-miR-6780a-5p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
Mayo	ENST00000401949	50755887	50756056	hsa-miR-4786-3p	chr7:50755933-50755940	8mer-1a	chr7:50755920-50755940	151.00	-23.50
Mayo	ENST00000401949	50780627	50780736	hsa-miR-5571-5p	chr7:50780708-50780715	8mer-1a	chr7:50780694-50780715	154.00	-13.95
Mayo	ENST00000401949	50780627	50780736	hsa-miR-6821-3p	chr7:50780659-50780666	8mer-1a	chr7:50780649-50780669	148.00	-21.51
Mayo	ENST00000401949	50755887	50756056	hsa-miR-548v	chr7:50755903-50755910	8mer-1a	chr7:50755897-50755919	166.00	-22.04
Mayo	ENST00000401949	50755887	50756056	hsa-miR-4663	chr7:50756031-50756038	8mer-1a	chr7:50756030-50756051	145.00	-22.81
Mayo	ENST00000401949	50780627	50780736	hsa-miR-30b-3p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
Mayo	ENST00000401949	50755887	50756056	hsa-miR-6854-5p	chr7:50755992-50755999	8mer-1a	chr7:50755987-50756008	164.00	-22.23
Mayo	ENST00000401949	50780627	50780736	hsa-miR-3689c	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
Mayo	ENST00000401949	50780627	50780736	hsa-miR-3689a-3p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
Mayo	ENST00000401949	50780627	50780736	hsa-miR-3689b-3p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
MSBB	ENST00000401949	50780627	50780736	hsa-miR-7856-5p	chr7:50780669-50780676	8mer-1a	chr7:50780663-50780683	159.00	-22.56
MSBB	ENST00000401949	50780627	50780736	hsa-miR-3664-3p	chr7:50780704-50780711	8mer-1a	chr7:50780690-50780711	155.00	-19.61
MSBB	ENST00000401949	50780627	50780736	hsa-miR-1273h-5p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
MSBB	ENST00000401949	50780627	50780736	hsa-miR-6779-5p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
MSBB	ENST00000401949	50780627	50780736	hsa-miR-6780a-5p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
MSBB	ENST00000401949	50780627	50780736	hsa-miR-5571-5p	chr7:50780708-50780715	8mer-1a	chr7:50780694-50780715	154.00	-13.95
MSBB	ENST00000401949	50780627	50780736	hsa-miR-6821-3p	chr7:50780659-50780666	8mer-1a	chr7:50780649-50780669	148.00	-21.51
MSBB	ENST00000401949	50780627	50780736	hsa-miR-30b-3p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
MSBB	ENST00000401949	50780627	50780736	hsa-miR-3689c	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
MSBB	ENST00000401949	50780627	50780736	hsa-miR-3689a-3p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
MSBB	ENST00000401949	50780627	50780736	hsa-miR-3689b-3p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
ROSMAP	ENST00000401949	50780627	50780736	hsa-miR-7856-5p	chr7:50780669-50780676	8mer-1a	chr7:50780663-50780683	159.00	-22.56
ROSMAP	ENST00000401949	50780627	50780736	hsa-miR-3664-3p	chr7:50780704-50780711	8mer-1a	chr7:50780690-50780711	155.00	-19.61
ROSMAP	ENST00000401949	50755887	50756056	hsa-miR-6765-3p	chr7:50755951-50755958	8mer-1a	chr7:50755946-50755966	147.00	-18.73
ROSMAP	ENST00000401949	50780627	50780736	hsa-miR-1273h-5p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
ROSMAP	ENST00000401949	50780627	50780736	hsa-miR-6779-5p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
ROSMAP	ENST00000401949	50780627	50780736	hsa-miR-6780a-5p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
ROSMAP	ENST00000401949	50755887	50756056	hsa-miR-4786-3p	chr7:50755933-50755940	8mer-1a	chr7:50755920-50755940	151.00	-23.50
ROSMAP	ENST00000401949	50780627	50780736	hsa-miR-5571-5p	chr7:50780708-50780715	8mer-1a	chr7:50780694-50780715	154.00	-13.95
ROSMAP	ENST00000401949	50780627	50780736	hsa-miR-6821-3p	chr7:50780659-50780666	8mer-1a	chr7:50780649-50780669	148.00	-21.51
ROSMAP	ENST00000401949	50755887	50756056	hsa-miR-548v	chr7:50755903-50755910	8mer-1a	chr7:50755897-50755919	166.00	-22.04
ROSMAP	ENST00000401949	50755887	50756056	hsa-miR-4663	chr7:50756031-50756038	8mer-1a	chr7:50756030-50756051	145.00	-22.81
ROSMAP	ENST00000401949	50780627	50780736	hsa-miR-30b-3p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
ROSMAP	ENST00000401949	50755887	50756056	hsa-miR-6854-5p	chr7:50755992-50755999	8mer-1a	chr7:50755987-50756008	164.00	-22.23
ROSMAP	ENST00000401949	50780627	50780736	hsa-miR-3689c	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
ROSMAP	ENST00000401949	50780627	50780736	hsa-miR-3689a-3p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18
ROSMAP	ENST00000401949	50780627	50780736	hsa-miR-3689b-3p	chr7:50780727-50780734	8mer-1a	chr7:50780715-50780734	156.00	-21.18

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SNVs in the skipped exons for GRB10

- 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

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AD stage-associated exon skippint events for GRB10

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

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GRB10

sQTL information located at the skipped exons.

Tissue type

Exon skip ID

SNP id

Location

P-value

FDR

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Correlation with RNA binding proteins (RBPs) for GRB10

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
HCC	DAZAP1	exon_skip_216192	-4.198232e-01	6.364793e-12
HCC	MSI1	exon_skip_216192	-4.020184e-01	5.684607e-11
HCC	RBM6	exon_skip_216192	-4.391370e-01	5.094340e-13
HCC	RBM5	exon_skip_216192	-4.194373e-01	6.683358e-12

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RelatedDrugs for GRB10

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

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for GRB10

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

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Gene summary for GRB10

Gene structures and expression levels for GRB10

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for GRB10

Open reading frame (ORF) annotation in the exon skipping event for GRB10

Infer the effects of exon skipping event on protein functional features for GRB10

3'-UTR located exon skipping events that lost miRNA binding sites in GRB10

SNVs in the skipped exons for GRB10

AD stage-associated exon skippint events for GRB10

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GRB10

Correlation with RNA binding proteins (RBPs) for GRB10

RelatedDrugs for GRB10

RelatedDiseases for GRB10