ExonSkipAD: functional annotation of exon skipping event in human

Gene summary for FGFR1

Gene summary

Gene information	Gene symbol	FGFR1
	Gene ID	2260
	Gene name	fibroblast growth factor receptor 1
	Synonyms	BFGFR\|CD331\|CEK\|ECCL\|FGFBR\|FGFR-1\|FLG\|FLT-2\|FLT2\|HBGFR\|HH2\|HRTFDS\|KAL2\|N-SAM\|OGD\|bFGF-R-1
	Cytomap	8p11.23
	Type of gene	protein-coding
	Description	fibroblast growth factor receptor 1FGFR1/PLAG1 fusionFMS-like tyrosine kinase 2basic fibroblast growth factor receptor 1fms-related tyrosine kinase 2heparin-binding growth factor receptorhydroxyaryl-protein kinaseproto-oncogene c-Fgr
	Modification date	20200329
	UniProtAcc	A0A0S2Z3P4, A0A0S2Z3P8, A0A0S2Z3Q6, A0A0S2Z3T4, A0A0S2Z3T9, A0A1B0RPQ4, A0A1V1G4T2, A0A1V1G971, A0A3B3ISD1, B5A958, B5A959, C1KBH7, C9J1L5, C9J205, D3DSX2, D3DSX4, E7EU09, E9PKF2, E9PKV7, E9PKX3, E9PN14, E9PNM3, E9PQ40, H0YE20,
	Context

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

Gene	GO ID	GO term	PubMed ID
FGFR1	GO:0008284	positive regulation of cell proliferation	8663044
FGFR1	GO:0008543	fibroblast growth factor receptor signaling pathway	8663044
FGFR1	GO:0010863	positive regulation of phospholipase C activity	18480409
FGFR1	GO:0018108	peptidyl-tyrosine phosphorylation	8622701\|18480409
FGFR1	GO:0043406	positive regulation of MAP kinase activity	8622701\|18480409
FGFR1	GO:0046777	protein autophosphorylation	8622701
FGFR1	GO:2000546	positive regulation of endothelial cell chemotaxis to fibroblast growth factor	21885851

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Gene structures and expression levels for FGFR1

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.

ENSG00000077782

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	ENST00000397113.6	FGFR1-209:protein_coding:FGFR1	2.233136e+01	6.607968e+00	3.697206e-04	2.325190e-02
CB	UP	ENST00000464163.1	FGFR1-215:retained_intron:FGFR1	1.705481e+02	8.402902e-01	5.821753e-12	6.263779e-10
CB	UP	ENST00000466021.5	FGFR1-216:retained_intron:FGFR1	2.896763e+02	8.421252e-01	5.902734e-11	4.093008e-09
CB	DOWN	ENST00000425967.7	FGFR1-211:protein_coding:FGFR1	4.856115e+02	-2.384319e+00	7.074726e-09	2.250915e-07
CB	UP	ENST00000341462.8	FGFR1-203:protein_coding:FGFR1	8.924537e+01	1.144579e+00	2.146645e-05	2.009977e-04
CB	UP	ENST00000527203.5	FGFR1-231:lncRNA:FGFR1	1.205321e+00	9.819298e-01	1.539268e-03	7.415552e-03
CB	UP	ENST00000530701.1	FGFR1-235:lncRNA:FGFR1	5.590058e-01	8.464745e-01	1.426779e-02	4.633234e-02
TC	DOWN	ENST00000619564.3	FGFR1-242:protein_coding:FGFR1	2.258680e+01	-2.666191e+01	4.926718e-59	2.258999e-54
TC	DOWN	ENST00000425967.7	FGFR1-211:protein_coding:FGFR1	1.789950e+02	-1.857030e+00	3.843493e-03	2.747755e-02

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 FGFR1

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_140474	chr8	38421843:38421941:38424509:38424699:38426122:38426181	38424509:38424699
exon_skip_147658	chr8	38429890:38429948:38440306:38440373:38457356:38457446	38440306:38440373
exon_skip_158280	chr8	38428012:38428093:38428346:38428435:38429247:38429390	38428346:38428435
exon_skip_160838	chr8	38429316:38429390:38429682:38429948:38457356:38457446	38429682:38429948
exon_skip_162611	chr8	38421797:38421941:38423025:38423175:38424509:38424621	38423025:38423175
exon_skip_167704	chr8	38428012:38428093:38428346:38428435:38429682:38429811	38428346:38428435
exon_skip_176118	chr8	38424683:38424699:38426122:38426245:38427921:38428093	38426122:38426245
exon_skip_199402	chr8	38428012:38428093:38428352:38428435:38429247:38429390	38428352:38428435
exon_skip_202298	chr8	38429682:38429948:38440306:38440373:38457356:38457534	38440306:38440373
exon_skip_221785	chr8	38419533:38419735:38421797:38421941:38424509:38424699	38421797:38421941
exon_skip_222695	chr8	38429247:38429390:38429682:38429948:38457356:38457446	38429682:38429948
exon_skip_228783	chr8	38428363:38428435:38429247:38429390:38429682:38429811	38429247:38429390
exon_skip_239277	chr8	38426179:38426245:38427921:38428435:38429682:38429811	38427921:38428435
exon_skip_25221	chr8	38415993:38416060:38417306:38417416:38417870:38417948	38417306:38417416
exon_skip_256851	chr8	38419539:38419735:38421797:38421941:38424509:38424621	38421797:38421941
exon_skip_26101	chr8	38424683:38424699:38426122:38426245:38427921:38428087	38426122:38426245
exon_skip_26291	chr8	38400536:38400788:38401560:38401636:38402894:38403095	38401560:38401636
exon_skip_270163	chr8	38428363:38428435:38429682:38429948:38457356:38457534	38429682:38429948
exon_skip_280623	chr8	38428352:38428435:38429247:38429390:38429682:38429948	38429247:38429390
exon_skip_290403	chr8	38428012:38428093:38428352:38428435:38429682:38429811	38428352:38428435
exon_skip_293114	chr8	38419533:38419735:38421797:38421941:38423025:38423175	38421797:38421941
exon_skip_293257	chr8	38429682:38429948:38440306:38440373:38457356:38457446	38440306:38440373
exon_skip_47703	chr8	38429862:38429948:38440306:38440373:38457356:38457446	38440306:38440373
exon_skip_8380	chr8	38421843:38421941:38423025:38423175:38424509:38424621	38423025:38423175
exon_skip_9224	chr8	38415993:38416060:38417306:38417416:38417870:38417991	38417306:38417416

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 FGFR1

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
ENST00000447712	38421797	38421941	Frame-shift
ENST00000447712	38417306	38417416	In-frame
ENST00000447712	38428346	38428435	In-frame
ENST00000447712	38429682	38429948	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
ENST00000447712	38417306	38417416	In-frame
ENST00000447712	38428346	38428435	In-frame
ENST00000447712	38429682	38429948	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
ENST00000447712	38421797	38421941	Frame-shift
ENST00000447712	38424509	38424699	Frame-shift
ENST00000447712	38426122	38426245	Frame-shift
ENST00000447712	38417306	38417416	In-frame
ENST00000447712	38428346	38428435	In-frame
ENST00000447712	38429682	38429948	In-frame

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Infer the effects of exon skipping event on protein functional features for FGFR1

p-ENSG00000077782_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
ENST00000447712	5917	822	38429682	38429948	1034	1299	30	119
ENST00000447712	5917	822	38428346	38428435	1301	1389	119	149
ENST00000447712	5917	822	38417306	38417416	2495	2604	517	554

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
ENST00000447712	5917	822	38429682	38429948	1034	1299	30	119
ENST00000447712	5917	822	38428346	38428435	1301	1389	119	149
ENST00000447712	5917	822	38417306	38417416	2495	2604	517	554

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
ENST00000447712	5917	822	38429682	38429948	1034	1299	30	119
ENST00000447712	5917	822	38428346	38428435	1301	1389	119	149
ENST00000447712	5917	822	38417306	38417416	2495	2604	517	554

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
P11362	30	119	1	160	Alternative sequence	ID=VSP_002957;Note=In isoform 10%2C isoform 11%2C isoform 12 and isoform 13. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	30	119	1	30	Alternative sequence	ID=VSP_041916;Note=In isoform 20. MWSWKCLLFWAVLVTATLCTARPSPTLPEQ->MAAVTRDFGEMLLHSGRVLPAE;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.12
P11362	30	119	31	119	Alternative sequence	ID=VSP_002958;Note=In isoform 6%2C isoform 7%2C isoform 8%2C isoform 9%2C isoform 15%2C isoform 17 and isoform 18. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:147020
P11362	30	119	32	61	Alternative sequence	ID=VSP_009836;Note=In isoform 3. QPWGAPVEVESFLVHPGDLLQLRCRLRDDV->CPDLQEAKSCSASFHSITPLPFGLGTRLSD;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	30	119	62	822	Alternative sequence	ID=VSP_009837;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	30	119	119	119	Alternative sequence	ID=VSP_038470;Note=In isoform 19. S->SVPI;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1652059,ECO:0000303\|PubMed:20139426;Dbxref=PMID:1652059,PMID:20139426
P11362	30	119	40	42	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	51	54	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	63	72	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	77	81	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	83	88	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	97	105	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	108	116	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	22	822	Chain	ID=PRO_0000016780;Note=Fibroblast growth factor receptor 1
P11362	30	119	55	101	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00114
P11362	30	119	25	119	Domain	Note=Ig-like C2-type 1
P11362	30	119	77	77	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11362	30	119	117	117	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11362	30	119	48	48	Natural variant	ID=VAR_030968;Note=In HH2%3B phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16882753;Dbxref=dbSNP:rs121909640,PMID:16882753
P11362	30	119	70	70	Natural variant	ID=VAR_072993;Note=In HH2. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25077900;Dbxref=dbSNP:rs140254426,PMID:25077900
P11362	30	119	77	77	Natural variant	ID=VAR_030969;Note=N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17154279;Dbxref=dbSNP:rs767195580,PMID:17154279
P11362	30	119	78	78	Natural variant	ID=VAR_030970;Note=In HH2. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16764984;Dbxref=PMID:16764984
P11362	30	119	96	96	Natural variant	ID=VAR_074013;Note=In HH2%3B unknown pathological significance. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26277103;Dbxref=PMID:26277103
P11362	30	119	97	97	Natural variant	ID=VAR_017885;Note=In HH2. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12627230;Dbxref=PMID:12627230
P11362	30	119	99	99	Natural variant	ID=VAR_017886;Note=In HH2%3B impairs the tertiary folding resulting in incomplete glycosylation and reduced cell surface expression. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12627230,ECO:0000269\|PubMed:19820032;Dbxref=dbSNP:r
P11362	30	119	101	101	Natural variant	ID=VAR_030971;Note=In HH2. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17154279;Dbxref=PMID:17154279
P11362	30	119	102	102	Natural variant	ID=VAR_030972;Note=In HH2. V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15605412,ECO:0000269\|PubMed:16764984;Dbxref=dbSNP:rs55642501,PMID:15605412,PMID:16764984
P11362	30	119	116	116	Natural variant	ID=VAR_072994;Note=In HH2. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25077900;Dbxref=dbSNP:rs747842199,PMID:25077900
P11362	30	119	117	117	Natural variant	ID=VAR_069288;Note=In HH2%3B some patients also carry GNRHR mutations. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19820032,ECO:0000269\|PubMed:23643382;Dbxref=dbSNP:rs780765366,PMID:19820032,PMID:23643382
P11362	30	119	22	376	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11362	30	119	93	95	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	119	149	1	160	Alternative sequence	ID=VSP_002957;Note=In isoform 10%2C isoform 11%2C isoform 12 and isoform 13. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	119	149	31	119	Alternative sequence	ID=VSP_002958;Note=In isoform 6%2C isoform 7%2C isoform 8%2C isoform 9%2C isoform 15%2C isoform 17 and isoform 18. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:147020
P11362	119	149	62	822	Alternative sequence	ID=VSP_009837;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	119	149	119	119	Alternative sequence	ID=VSP_038470;Note=In isoform 19. S->SVPI;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1652059,ECO:0000303\|PubMed:20139426;Dbxref=PMID:1652059,PMID:20139426
P11362	119	149	120	150	Alternative sequence	ID=VSP_009838;Note=In isoform 16. DALPSSEDDDDDDDSSSEEKETDNTKPNRMP->ACPDLQEAKWCSASFHSITPLPFGLGTRLSD;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1650441;Dbxref=PMID:1650441
P11362	119	149	148	149	Alternative sequence	ID=VSP_002959;Note=In isoform 14%2C isoform 15%2C isoform 18%2C isoform 19 and isoform 21. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=E
P11362	119	149	22	822	Chain	ID=PRO_0000016780;Note=Fibroblast growth factor receptor 1
P11362	119	149	25	119	Domain	Note=Ig-like C2-type 1
P11362	119	149	125	125	Natural variant	ID=VAR_042201;Note=In a breast infiltrating ductal carcinoma sample%3B somatic mutation. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs121913473,PMID:17344846
P11362	119	149	129	129	Natural variant	ID=VAR_030973;Note=In HH2. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15605412;Dbxref=dbSNP:rs765615419,PMID:15605412
P11362	119	149	22	376	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11362	517	554	62	822	Alternative sequence	ID=VSP_009837;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	517	554	151	822	Alternative sequence	ID=VSP_009839;Note=In isoform 16. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1650441;Dbxref=PMID:1650441
P11362	517	554	392	822	Alternative sequence	ID=VSP_009841;Note=In isoform 17 and isoform 18. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:2167437;Dbxref=PMID:2167437
P11362	517	554	547	551	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5EW8
P11362	517	554	553	555	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5EW8
P11362	517	554	22	822	Chain	ID=PRO_0000016780;Note=Fibroblast growth factor receptor 1
P11362	517	554	478	767	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P11362	517	554	522	538	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5EW8
P11362	517	554	324	822	Natural variant	ID=VAR_080328;Note=In HH2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17154279;Dbxref=PMID:17154279
P11362	517	554	520	520	Natural variant	ID=VAR_030995;Note=In HH2. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15605412;Dbxref=dbSNP:rs749758370,PMID:15605412
P11362	517	554	538	538	Natural variant	ID=VAR_030996;Note=In HH2. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16764984;Dbxref=PMID:16764984
P11362	517	554	546	546	Natural variant	ID=VAR_075853;Note=In ECCL%3B somatic mutation%3B activating mutation%3B strongly increased speed of the first autophosphorylation and loss of the normal sequential order of autophosphorylation. N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000
P11362	517	554	398	822	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
P11362	30	119	1	160	Alternative sequence	ID=VSP_002957;Note=In isoform 10%2C isoform 11%2C isoform 12 and isoform 13. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	30	119	1	30	Alternative sequence	ID=VSP_041916;Note=In isoform 20. MWSWKCLLFWAVLVTATLCTARPSPTLPEQ->MAAVTRDFGEMLLHSGRVLPAE;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.12
P11362	30	119	31	119	Alternative sequence	ID=VSP_002958;Note=In isoform 6%2C isoform 7%2C isoform 8%2C isoform 9%2C isoform 15%2C isoform 17 and isoform 18. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:147020
P11362	30	119	32	61	Alternative sequence	ID=VSP_009836;Note=In isoform 3. QPWGAPVEVESFLVHPGDLLQLRCRLRDDV->CPDLQEAKSCSASFHSITPLPFGLGTRLSD;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	30	119	62	822	Alternative sequence	ID=VSP_009837;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	30	119	119	119	Alternative sequence	ID=VSP_038470;Note=In isoform 19. S->SVPI;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1652059,ECO:0000303\|PubMed:20139426;Dbxref=PMID:1652059,PMID:20139426
P11362	30	119	40	42	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	51	54	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	63	72	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	77	81	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	83	88	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	97	105	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	108	116	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	22	822	Chain	ID=PRO_0000016780;Note=Fibroblast growth factor receptor 1
P11362	30	119	55	101	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00114
P11362	30	119	25	119	Domain	Note=Ig-like C2-type 1
P11362	30	119	77	77	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11362	30	119	117	117	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11362	30	119	48	48	Natural variant	ID=VAR_030968;Note=In HH2%3B phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16882753;Dbxref=dbSNP:rs121909640,PMID:16882753
P11362	30	119	70	70	Natural variant	ID=VAR_072993;Note=In HH2. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25077900;Dbxref=dbSNP:rs140254426,PMID:25077900
P11362	30	119	77	77	Natural variant	ID=VAR_030969;Note=N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17154279;Dbxref=dbSNP:rs767195580,PMID:17154279
P11362	30	119	78	78	Natural variant	ID=VAR_030970;Note=In HH2. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16764984;Dbxref=PMID:16764984
P11362	30	119	96	96	Natural variant	ID=VAR_074013;Note=In HH2%3B unknown pathological significance. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26277103;Dbxref=PMID:26277103
P11362	30	119	97	97	Natural variant	ID=VAR_017885;Note=In HH2. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12627230;Dbxref=PMID:12627230
P11362	30	119	99	99	Natural variant	ID=VAR_017886;Note=In HH2%3B impairs the tertiary folding resulting in incomplete glycosylation and reduced cell surface expression. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12627230,ECO:0000269\|PubMed:19820032;Dbxref=dbSNP:r
P11362	30	119	101	101	Natural variant	ID=VAR_030971;Note=In HH2. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17154279;Dbxref=PMID:17154279
P11362	30	119	102	102	Natural variant	ID=VAR_030972;Note=In HH2. V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15605412,ECO:0000269\|PubMed:16764984;Dbxref=dbSNP:rs55642501,PMID:15605412,PMID:16764984
P11362	30	119	116	116	Natural variant	ID=VAR_072994;Note=In HH2. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25077900;Dbxref=dbSNP:rs747842199,PMID:25077900
P11362	30	119	117	117	Natural variant	ID=VAR_069288;Note=In HH2%3B some patients also carry GNRHR mutations. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19820032,ECO:0000269\|PubMed:23643382;Dbxref=dbSNP:rs780765366,PMID:19820032,PMID:23643382
P11362	30	119	22	376	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11362	30	119	93	95	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	119	149	1	160	Alternative sequence	ID=VSP_002957;Note=In isoform 10%2C isoform 11%2C isoform 12 and isoform 13. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	119	149	31	119	Alternative sequence	ID=VSP_002958;Note=In isoform 6%2C isoform 7%2C isoform 8%2C isoform 9%2C isoform 15%2C isoform 17 and isoform 18. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:147020
P11362	119	149	62	822	Alternative sequence	ID=VSP_009837;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	119	149	119	119	Alternative sequence	ID=VSP_038470;Note=In isoform 19. S->SVPI;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1652059,ECO:0000303\|PubMed:20139426;Dbxref=PMID:1652059,PMID:20139426
P11362	119	149	120	150	Alternative sequence	ID=VSP_009838;Note=In isoform 16. DALPSSEDDDDDDDSSSEEKETDNTKPNRMP->ACPDLQEAKWCSASFHSITPLPFGLGTRLSD;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1650441;Dbxref=PMID:1650441
P11362	119	149	148	149	Alternative sequence	ID=VSP_002959;Note=In isoform 14%2C isoform 15%2C isoform 18%2C isoform 19 and isoform 21. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=E
P11362	119	149	22	822	Chain	ID=PRO_0000016780;Note=Fibroblast growth factor receptor 1
P11362	119	149	25	119	Domain	Note=Ig-like C2-type 1
P11362	119	149	125	125	Natural variant	ID=VAR_042201;Note=In a breast infiltrating ductal carcinoma sample%3B somatic mutation. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs121913473,PMID:17344846
P11362	119	149	129	129	Natural variant	ID=VAR_030973;Note=In HH2. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15605412;Dbxref=dbSNP:rs765615419,PMID:15605412
P11362	119	149	22	376	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11362	517	554	62	822	Alternative sequence	ID=VSP_009837;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	517	554	151	822	Alternative sequence	ID=VSP_009839;Note=In isoform 16. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1650441;Dbxref=PMID:1650441
P11362	517	554	392	822	Alternative sequence	ID=VSP_009841;Note=In isoform 17 and isoform 18. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:2167437;Dbxref=PMID:2167437
P11362	517	554	547	551	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5EW8
P11362	517	554	553	555	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5EW8
P11362	517	554	22	822	Chain	ID=PRO_0000016780;Note=Fibroblast growth factor receptor 1
P11362	517	554	478	767	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P11362	517	554	522	538	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5EW8
P11362	517	554	324	822	Natural variant	ID=VAR_080328;Note=In HH2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17154279;Dbxref=PMID:17154279
P11362	517	554	520	520	Natural variant	ID=VAR_030995;Note=In HH2. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15605412;Dbxref=dbSNP:rs749758370,PMID:15605412
P11362	517	554	538	538	Natural variant	ID=VAR_030996;Note=In HH2. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16764984;Dbxref=PMID:16764984
P11362	517	554	546	546	Natural variant	ID=VAR_075853;Note=In ECCL%3B somatic mutation%3B activating mutation%3B strongly increased speed of the first autophosphorylation and loss of the normal sequential order of autophosphorylation. N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000
P11362	517	554	398	822	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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
P11362	30	119	1	160	Alternative sequence	ID=VSP_002957;Note=In isoform 10%2C isoform 11%2C isoform 12 and isoform 13. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	30	119	1	30	Alternative sequence	ID=VSP_041916;Note=In isoform 20. MWSWKCLLFWAVLVTATLCTARPSPTLPEQ->MAAVTRDFGEMLLHSGRVLPAE;Ontology_term=ECO:0000303;evidence=ECO:0000303\|Ref.12
P11362	30	119	31	119	Alternative sequence	ID=VSP_002958;Note=In isoform 6%2C isoform 7%2C isoform 8%2C isoform 9%2C isoform 15%2C isoform 17 and isoform 18. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:147020
P11362	30	119	32	61	Alternative sequence	ID=VSP_009836;Note=In isoform 3. QPWGAPVEVESFLVHPGDLLQLRCRLRDDV->CPDLQEAKSCSASFHSITPLPFGLGTRLSD;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	30	119	62	822	Alternative sequence	ID=VSP_009837;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	30	119	119	119	Alternative sequence	ID=VSP_038470;Note=In isoform 19. S->SVPI;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1652059,ECO:0000303\|PubMed:20139426;Dbxref=PMID:1652059,PMID:20139426
P11362	30	119	40	42	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	51	54	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	63	72	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	77	81	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	83	88	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	97	105	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	108	116	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	30	119	22	822	Chain	ID=PRO_0000016780;Note=Fibroblast growth factor receptor 1
P11362	30	119	55	101	Disulfide bond	Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00114
P11362	30	119	25	119	Domain	Note=Ig-like C2-type 1
P11362	30	119	77	77	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11362	30	119	117	117	Glycosylation	Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11362	30	119	48	48	Natural variant	ID=VAR_030968;Note=In HH2%3B phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism. G->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16882753;Dbxref=dbSNP:rs121909640,PMID:16882753
P11362	30	119	70	70	Natural variant	ID=VAR_072993;Note=In HH2. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25077900;Dbxref=dbSNP:rs140254426,PMID:25077900
P11362	30	119	77	77	Natural variant	ID=VAR_030969;Note=N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17154279;Dbxref=dbSNP:rs767195580,PMID:17154279
P11362	30	119	78	78	Natural variant	ID=VAR_030970;Note=In HH2. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16764984;Dbxref=PMID:16764984
P11362	30	119	96	96	Natural variant	ID=VAR_074013;Note=In HH2%3B unknown pathological significance. S->C;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:26277103;Dbxref=PMID:26277103
P11362	30	119	97	97	Natural variant	ID=VAR_017885;Note=In HH2. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12627230;Dbxref=PMID:12627230
P11362	30	119	99	99	Natural variant	ID=VAR_017886;Note=In HH2%3B impairs the tertiary folding resulting in incomplete glycosylation and reduced cell surface expression. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:12627230,ECO:0000269\|PubMed:19820032;Dbxref=dbSNP:r
P11362	30	119	101	101	Natural variant	ID=VAR_030971;Note=In HH2. C->F;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17154279;Dbxref=PMID:17154279
P11362	30	119	102	102	Natural variant	ID=VAR_030972;Note=In HH2. V->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:15605412,ECO:0000269\|PubMed:16764984;Dbxref=dbSNP:rs55642501,PMID:15605412,PMID:16764984
P11362	30	119	116	116	Natural variant	ID=VAR_072994;Note=In HH2. V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25077900;Dbxref=dbSNP:rs747842199,PMID:25077900
P11362	30	119	117	117	Natural variant	ID=VAR_069288;Note=In HH2%3B some patients also carry GNRHR mutations. N->S;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:19820032,ECO:0000269\|PubMed:23643382;Dbxref=dbSNP:rs780765366,PMID:19820032,PMID:23643382
P11362	30	119	22	376	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11362	30	119	93	95	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:2CR3
P11362	119	149	1	160	Alternative sequence	ID=VSP_002957;Note=In isoform 10%2C isoform 11%2C isoform 12 and isoform 13. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	119	149	31	119	Alternative sequence	ID=VSP_002958;Note=In isoform 6%2C isoform 7%2C isoform 8%2C isoform 9%2C isoform 15%2C isoform 17 and isoform 18. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:147020
P11362	119	149	62	822	Alternative sequence	ID=VSP_009837;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	119	149	119	119	Alternative sequence	ID=VSP_038470;Note=In isoform 19. S->SVPI;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303\|PubMed:1652059,ECO:0000303\|PubMed:20139426;Dbxref=PMID:1652059,PMID:20139426
P11362	119	149	120	150	Alternative sequence	ID=VSP_009838;Note=In isoform 16. DALPSSEDDDDDDDSSSEEKETDNTKPNRMP->ACPDLQEAKWCSASFHSITPLPFGLGTRLSD;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1650441;Dbxref=PMID:1650441
P11362	119	149	148	149	Alternative sequence	ID=VSP_002959;Note=In isoform 14%2C isoform 15%2C isoform 18%2C isoform 19 and isoform 21. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=E
P11362	119	149	22	822	Chain	ID=PRO_0000016780;Note=Fibroblast growth factor receptor 1
P11362	119	149	25	119	Domain	Note=Ig-like C2-type 1
P11362	119	149	125	125	Natural variant	ID=VAR_042201;Note=In a breast infiltrating ductal carcinoma sample%3B somatic mutation. S->L;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=dbSNP:rs121913473,PMID:17344846
P11362	119	149	129	129	Natural variant	ID=VAR_030973;Note=In HH2. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15605412;Dbxref=dbSNP:rs765615419,PMID:15605412
P11362	119	149	22	376	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P11362	517	554	62	822	Alternative sequence	ID=VSP_009837;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1846977;Dbxref=PMID:1846977
P11362	517	554	151	822	Alternative sequence	ID=VSP_009839;Note=In isoform 16. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:1650441;Dbxref=PMID:1650441
P11362	517	554	392	822	Alternative sequence	ID=VSP_009841;Note=In isoform 17 and isoform 18. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:2167437;Dbxref=PMID:2167437
P11362	517	554	547	551	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5EW8
P11362	517	554	553	555	Beta strand	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5EW8
P11362	517	554	22	822	Chain	ID=PRO_0000016780;Note=Fibroblast growth factor receptor 1
P11362	517	554	478	767	Domain	Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00159
P11362	517	554	522	538	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5EW8
P11362	517	554	324	822	Natural variant	ID=VAR_080328;Note=In HH2. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17154279;Dbxref=PMID:17154279
P11362	517	554	520	520	Natural variant	ID=VAR_030995;Note=In HH2. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:15605412;Dbxref=dbSNP:rs749758370,PMID:15605412
P11362	517	554	538	538	Natural variant	ID=VAR_030996;Note=In HH2. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:16764984;Dbxref=PMID:16764984
P11362	517	554	546	546	Natural variant	ID=VAR_075853;Note=In ECCL%3B somatic mutation%3B activating mutation%3B strongly increased speed of the first autophosphorylation and loss of the normal sequential order of autophosphorylation. N->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000
P11362	517	554	398	822	Topological domain	Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255

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3'-UTR located exon skipping events that lost miRNA binding sites in FGFR1

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

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SNVs in the skipped exons for FGFR1

- 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 FGFR1

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

ADstage

MSBB

IFG

exon_skip_270163

-4.993715e-01

6.821529e-03

chr8

38428363

38428435

38429682

38429948

38457356

38457534

CDR

MSBB

IFG

exon_skip_270163

-5.003094e-01

6.701500e-03

chr8

38428363

38428435

38429682

38429948

38457356

38457534

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FGFR1

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 FGFR1

Correlated RBP and related information.

Tissue type	RBP name	Exon skip ID	Correlation coeifficient	P-value
IFG	RBM6	exon_skip_270163	-4.363697e-01	2.025879e-02
IFG	FXR2	exon_skip_270163	4.103698e-01	3.007995e-02
PCC	ELAVL4	exon_skip_270163	4.267339e-01	1.298438e-10
PCC	RBM6	exon_skip_270163	-4.021205e-01	1.737776e-09
PCC	SAMD4A	exon_skip_270163	-4.593474e-01	2.977017e-12
PCC	PCBP4	exon_skip_270163	-4.186586e-01	3.112686e-10
PCC	HNRNPF	exon_skip_270163	-5.414963e-01	3.036533e-17
STG	PCBP4	exon_skip_270163	-4.465753e-01	7.486182e-05
TC	ELAVL4	exon_skip_270163	4.625098e-01	1.987529e-09
TC	HNRNPF	exon_skip_270163	-4.030574e-01	2.628691e-07
TC	NOVA1	exon_skip_270163	4.403622e-01	1.369618e-08

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RelatedDrugs for FGFR1

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 FGFR1

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 FGFR1

Gene structures and expression levels for FGFR1

Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for FGFR1

Open reading frame (ORF) annotation in the exon skipping event for FGFR1

Infer the effects of exon skipping event on protein functional features for FGFR1

3'-UTR located exon skipping events that lost miRNA binding sites in FGFR1

SNVs in the skipped exons for FGFR1

AD stage-associated exon skippint events for FGFR1

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FGFR1

Correlation with RNA binding proteins (RBPs) for FGFR1

RelatedDrugs for FGFR1

RelatedDiseases for FGFR1