chr8:38268656:> Detail (hg19) (FGFR1)

Information

Genome

Assembly Position
hg19 chr8:38,268,656-38,325,363
hg38 chr8:38,411,138-38,467,845 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
sarcoma Infigratinib,FGF/VEGF Receptor Tyrosine Kinase Inhibitor, PD173074,FGFR Inhibitor AZD4547 D Predictive Supports Sensitivity/Response Somatic 3 27535980 Detail
lung cancer Ponatinib D Predictive Supports Sensitivity/Response N/A 4 24771645 Detail
breast cancer B Prognostic Supports Poor Outcome Somatic 2 26673008 Detail
head and neck squamous cell carcinoma B Prognostic Does Not Support Poor Outcome Somatic 2 26115874 Detail
head and neck squamous cell carcinoma Infigratinib D Predictive Supports Sensitivity/Response N/A 3 26015511 Detail
gastric adenocarcinoma Infigratinib D Predictive Supports Sensitivity/Response N/A 2 26637881 Detail
bladder carcinoma PD173074,Dovitinib D Predictive Supports Sensitivity/Response N/A 2 21119661 Detail
colorectal cancer Infigratinib D Predictive Supports Sensitivity/Response N/A 2 24135816 Detail
head and neck squamous cell carcinoma B Prognostic Supports Poor Outcome N/A 2 16454808 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Targeting of FGFR1 by RNA interference and small-molecule inhibitors (PD173074, AZD4547, BGJ398) rev... CIViC Evidence Detail
Preclinical evidence (in-vitro) for predictive value of FGFR1 mRNA and protein expression as well as... CIViC Evidence Detail
FGFR1 expression, was assessed by IHC in 1,086 invasive breast cancers. FGFR1 expression was mainly ... CIViC Evidence Detail
This review identified 12 studies that addressed the prognostic role of FGFRs in HNSSC. Evidence was... CIViC Evidence Detail
FGFR1 mRNA expression, rather than copy number alterations, were predictive of response to FGFR inhi... CIViC Evidence Detail
FGFR inhibitor BGJ398 was most effective in a gastric cancer cell line model with high expression of... CIViC Evidence Detail
One urothelial cell line (JMSU1) with high expression of FGFR1 was sensitive to treatment with FGFR ... CIViC Evidence Detail
In vitro studies showed efficacy of FGFR inhibitor NVP-BGJ398 in cell lines exhibiting high FGFR1 pr... CIViC Evidence Detail
Expression of bFGF and FGFR1 were evaluated in 61 biopsy specimens of primary OSCC (IHC). Expression... CIViC Evidence Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr8:38,268,656-38,325,363
Variant Type
snv
Variant (CIViC) (CIViC Variant)
EXPRESSION
Transcript 1 (CIViC Variant)
ENST00000425967.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/268
Summary (CIViC Variant)
FGFR1 high expression has been reported in 11.8% (178 patients) of oral squamous cell carcinoma patients, and was enriched in early stages (Freier et. al., 2007). Another study reports FGFR1 expression in 35% of primary HNSSC (353 patients) (Göke et. al., 2015). In both studies, FGFR1 gene amplification and expression do not correlate well with about 35% of samples with FGFR1 amplification overexpressing FGFR1 (Göke et. al., 2015). FGFR1 expression also correlated with sensitivity to FGFR1 inhibitors in preclinical models of lung cancer (Wynes et. al., 2014), HNSSC (Göke et. al., 2015) and urothelial carcinoma (Lamont et. al., 2011).
Genome browser