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FLASH GENE
Symbol FGFR1 contributors: mct - updated : 28-02-2016
HGNC name fibroblast growth factor receptor 1
HGNC id 3688
ASSOCIATED DISORDERS
corresponding disease(s) CRS7A , SCLLS , OGD , KAL2 , NIHH , HRTFDS , ECCL
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral fusion      
with FOP in t(6;8)(q27;p11),with CEP1 in t(8;9)(p11;q33), with ZNF198 in t(8;13)(p11;q12)
tumoral somatic mutation      
aberrant alternative splicing in glioblastoma (exon skipping)
tumoral fusion      
with BCR in t(8;22) (p11;q11)
tumoral   amplification    
during the progression of in situ to invasive breast carcinoma
tumoral       gain of function
in the 8p11 myeloproliferative syndrome
tumoral fusion      
with TIF1 in t(7;8)(q34;p11)in myeloproliferative syndrome
tumoral fusion      
with TNS3 in t(7;8) (p12.3;p11.2)in Kallmann syndrome with cleft lip and cleft palate
tumoral fusion      
to CPSF6, in t(8;12)(p11;q15) and the 8p11 myeloproliferative syndrome
constitutional     --other  
dysfunction (expression) of the FGFR1, SOS1 and RAF1 genes is involved in the development of unilateral or bilateral cryptorchidism
tumoral     --over  
in renal cell carcinoma
tumoral fusion      
NTRK2 is a new gene fusion target in pilocytic astrocytoma (fusion with QKI, FGFR1)
tumoral fusion      
to the transforming acidic coiled-coil (TACC) coding domains of TACC1 or TACC3, respectively in glioblastoma
tumoral fusion      
fusion FGFR1/TPR in 8p11 myeloproliferative syndrome
Susceptibility
Variant & Polymorphism SNP SNP g.8592931G-->C was found to have a significant negative correlation with the cephalic index for all populations
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS