Property Summary

NCBI Gene PubMed Count 102
PubMed Score 268.22
PubTator Score 377.27

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (8)

Disease Target Count P-value
periodontitis 269 3.50278712119354E-26
lung carcinoma 2844 2.57086705808965E-18
posterior fossa group A ependymoma 1511 1.19284713538315E-17
Breast cancer 3099 3.26501239365824E-16
ovarian cancer 8492 1.19325185397008E-15
pilocytic astrocytoma 3086 1.5032916692565E-15
malignant mesothelioma 3163 3.27236348547314E-10
urothelial carcinoma 318 4.94684418972664E-6
non-small cell lung cancer 2798 1.31250708856776E-5
lung cancer 4473 2.38968317619057E-5
adult high grade glioma 2148 2.66203266237566E-5
interstitial cystitis 2299 2.96940303192339E-5
astrocytoma 1493 3.43127658914349E-5
pituitary cancer 1972 7.56354642317581E-5
group 3 medulloblastoma 2254 6.85673689455422E-4
glioblastoma 5572 8.38001983558534E-4
cystic fibrosis 1670 9.77170757563905E-4
subependymal giant cell astrocytoma 2287 0.00116717811879669
pancreatic ductal adenocarcinoma liver metastasis 1795 0.00416663790479094
active ulcerative colitis 477 0.00493117594301356
active Crohn's disease 918 0.00647551502801105
aldosterone-producing adenoma 664 0.0142808225784196
nephrosclerosis 329 0.0167650973002722
Barrett's esophagus 185 0.0433635955832688
Disease Target Count Z-score Confidence
Macular degeneration 44 0.0 2.0
Disease Target Count Z-score Confidence
Complement factor I deficiency 1 0.0 5.0

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

Synonym

Accession P05156 O60442
Symbols FI
IF
KAF
AHUS3
ARMD13
C3BINA
C3b-INA

Gene

CFI

PDB

2XRC  

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA EggNOG Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG

 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.
More...