Property Summary

NCBI Gene PubMed Count 102
Grant Count 27
R01 Count 13
Funding $3,079,753.76
PubMed Score 268.22
PubTator Score 377.27

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (24)

Disease log2 FC p
nephrosclerosis -1.234 0.017
urothelial carcinoma -3.300 0.000
malignant mesothelioma -7.000 0.000
Barrett's esophagus 1.200 0.043
astrocytoma 1.200 0.000
glioblastoma 3.700 0.001
posterior fossa group A ependymoma 4.900 0.000
periodontitis 1.100 0.000
active ulcerative colitis 3.656 0.005
pancreatic ductal adenocarcinoma liver m... -2.682 0.004
non-small cell lung cancer -1.030 0.000
lung cancer -1.900 0.000
active Crohn's disease 2.754 0.006
interstitial cystitis 1.400 0.000
cystic fibrosis 1.500 0.001
adult high grade glioma 3.200 0.000
group 3 medulloblastoma 1.600 0.001
pilocytic astrocytoma 5.100 0.000
aldosterone-producing adenoma -2.252 0.014
subependymal giant cell astrocytoma 4.743 0.001
lung carcinoma -2.000 0.000
Breast cancer -2.800 0.000
ovarian cancer -4.600 0.000
pituitary cancer -1.900 0.000

 IMPC Term (1)

Gene RIF (72)

PMID Text
26900322 Our results indicate that CFI polymorphisms are not significantly associated with VKH syndrome.
26767664 Patients with advanced atrophic AMD carried these rare variants more frequently than patients with neovascular AMD (11 of 93 [11.8%] vs 40 of 835 [4.8%]; P = .04).
26312598 In this study, the odds of AMD were highest in those with deficient vitamin D status and 2 risk alleles for the CFH and CFI genotypes, suggesting a synergistic effect between vitamin D status and complement cascade protein function.
25986072 A missense variant (p.V412M) in CFI was discovered in two Tunisian Jewish families with early-onset age-related macular degeneration.
25803806 Regulatory components of the alternative complement pathway in endothelial cell cytoplasm, factor H and factor I, are not packaged in Weibel-Palade bodies.
25788521 Low FI levels are strongly associated with rare CFI variants and age-related macular degeneration.
25618258 High expression of complement factor I is associated with recurrence in breast cancer.
25394898 CFI genetic variants played an important role in the development of NSCLC in Chinese population.
25352734 The CFI p.Gly119Arg mutation was identified in 7/521 age-related macular degeneration cases compared to 1/627 age-matched controls; this mutation confers a high risk of disease.
25188723 The mutations in the regulators CFH, CFI and MCP involve loss-of-function, whereas those for C3 involve gain-of-function.
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AA Sequence

MKLLHVFLLFLCFHLRFCKVTYTSQEDLVEKKCLAKKYTHLSCDKVFCQPWQRCIEGTCVCKLPYQCPKN      1 - 70
GTAVCATNRRSFPTYCQQKSLECLHPGTKFLNNGTCTAEGKFSVSLKHGNTDSEGIVEVKLVDQDKTMFI     71 - 140
CKSSWSMREANVACLDLGFQQGADTQRRFKLSDLSINSTECLHVHCRGLETSLAECTFTKRRTMGYQDFA    141 - 210
DVVCYTQKADSPMDDFFQCVNGKYISQMKACDGINDCGDQSDELCCKACQGKGFHCKSGVCIPSQYQCNG    211 - 280
EVDCITGEDEVGCAGFASVTQEETEILTADMDAERRRIKSLLPKLSCGVKNRMHIRRKRIVGGKRAQLGD    281 - 350
LPWQVAIKDASGITCGGIYIGGCWILTAAHCLRASKTHRYQIWTTVVDWIHPDLKRIVIEYVDRIIFHEN    351 - 420
YNAGTYQNDIALIEMKKDGNKKDCELPRSIPACVPWSPYLFQPNDTCIVSGWGREKDNERVFSLQWGEVK    421 - 490
LISNCSKFYGNRFYEKEMECAGTYDGSIDACKGDSGGPLVCMDANNVTYVWGVVSWGENCGKPEFPGVYT    491 - 560
KVANYFDWISYHVGRPFISQYNV                                                   561 - 583
//

Text Mined References (107)

PMID Year Title
26900322 2016 CFI-rs7356506 polymorphisms associated with Vogt-Koyanagi-Harada syndrome.
26767664 2016 Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration.
26312598 2015 Association between vitamin D status and age-related macular degeneration by genetic risk.
25986072 2015 Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.
25803806 2015 Regulatory components of the alternative complement pathway in endothelial cell cytoplasm, factor H and factor I, are not packaged in Weibel-Palade bodies.
25788521 2015 Rare genetic variants in the CFI gene are associated with advanced age-related macular degeneration and commonly result in reduced serum factor I levels.
25618258 2015 Local expression of complement factor I in breast cancer cells correlates with poor survival and recurrence.
25394898 2015 Tag SNPs of CFI contributed to the susceptibility for non-small cell lung cancer in Chinese population.
25352734 2014 Complement factor I and age-related macular degeneration.
25188723 2014 New functional and structural insights from updated mutational databases for complement factor H, Factor I, membrane cofactor protein and C3.
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