Property Summary

NCBI Gene PubMed Count 10
PubMed Score 3.21
PubTator Score 3.62

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count
Obesity 616
Disease Target Count P-value
medulloblastoma, large-cell 6234 4.73923436625179E-8
sonic hedgehog group medulloblastoma 1482 5.67486889941465E-8
atypical teratoid / rhabdoid tumor 4369 1.81746862261929E-7
pediatric high grade glioma 2712 9.02059466317986E-7
glioblastoma 5572 2.18603364943188E-5
Breast cancer 3099 2.54202908358422E-5
primitive neuroectodermal tumor 3031 2.80638373800812E-5
tuberculosis 1563 3.66362987569798E-5
gastric cancer 436 4.25673970887168E-4
ovarian cancer 8492 0.00156965186924418
astrocytic glioma 2241 0.00375101546768592
oligodendroglioma 2849 0.00941936809994258
ependymoma 2514 0.0103367384438979
osteosarcoma 7933 0.0134641349855138
pilocytic astrocytoma 3086 0.0198464723493357
Rheumatoid Arthritis 1171 0.0268864072353848
Disease Target Count Z-score Confidence
Intestinal disease 11 0.0 2.0
Multiple Sclerosis 498 0.0 2.0
Disease Target Count Z-score Confidence
Hirschsprung's disease 44 3.602 1.8

Expression

  Differential Expression (16)

Disease log2 FC p
Rheumatoid Arthritis 1.200 0.027
gastric cancer 1.200 0.000
astrocytic glioma -3.700 0.004
ependymoma -3.500 0.010
oligodendroglioma -3.000 0.009
glioblastoma -4.400 0.000
osteosarcoma -2.038 0.013
sonic hedgehog group medulloblastoma -4.900 0.000
atypical teratoid / rhabdoid tumor -4.200 0.000
medulloblastoma, large-cell -6.200 0.000
primitive neuroectodermal tumor -3.900 0.000
tuberculosis 1.600 0.000
pediatric high grade glioma -3.800 0.000
pilocytic astrocytoma -1.500 0.020
Breast cancer -1.800 0.000
ovarian cancer 1.700 0.002

Synonym

Accession Q8N9B8 Q8TBF1
Symbols CG4853

Gene

  Ortholog (13)

 GWAS Trait (1)

Gene RIF (1)

PMID Text
19645719 analyzed residues that allow RasGEF1 proteins to discriminate between Rap1 and Rap2, and identified Phe39 in the switch I region of Rap2 as a specificity residue.

AA Sequence

MPQTSVVFSSILGPSCSGQVQPGMGERGGGAGGGSGDLIFQDGHLISGSLEALMEHLVPTVDYYPDRTYI      1 - 70
FTFLLSSRVFMPPHDLLARVGQICVEQKQQLEAGPEKAKLKSFSAKIVQLLKEWTEAFPYDFQDEKAMAE     71 - 140
LKAITHRVTQCDEENGTVKKAIAQMTQSLLLSLAARSQLQELREKLRPPAVDKGPILKTKPPAAQKDILG    141 - 210
VCCDPLVLAQQLTHIELDRVSSIYPEDLMQIVSHMDSLDNHRCRGDLTKTYSLEAYDNWFNCLSMLVATE    211 - 280
VCRVVKKKHRTRMLEFFIDVARECFNIGNFNSMMAIISGMNLSPVARLKKTWSKVKTAKFDVLEHHMDPS    281 - 350
SNFCNYRTALQGATQRSQMANSSREKIVIPVFNLFVKDIYFLHKIHTNHLPNGHINFKKFWEISRQIHEF    351 - 420
MTWTQVECPFEKDKKIQSYLLTAPIYSEEALFVASFESEGPENHMEKDSWKTLRTTLLNRA             421 - 481
//

Text Mined References (11)

PMID Year Title
25310821 2014 A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.
24478790 2013 Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
19645719 2009 RasGEF1A and RasGEF1B are guanine nucleotide exchange factors that discriminate between Rap GTP-binding proteins and mediate Rap2-specific nucleotide exchange.
19196962 2009 Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.
17121879 2006 Enhanced RASGEF1A expression is involved in the growth and migration of intrahepatic cholangiocarcinoma.
15829955 2005 A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.
15759212 2005 Identifying candidate Hirschsprung disease-associated RET variants.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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