Cd109 - SNV Details



 Human Rare Diseases 
Fetal and neonatal alloimmune thrombocytopenia

 Gene Information 
Gene Name Cd109
Old Gene Names for Cd109 Ai480638 , 9930012e15rik
Gene Description CD109 antigen [Source:MGI Symbol;Acc:MGI:2445221]
Uniprot Name
CCDS Name
Gene GO
negative regulation of transforming growth factor beta receptor signaling pathway; anchored component of membrane; negative regulation of wound healing; transforming growth factor beta binding; serine-type endopeptidase inhibitor activity; cellular_component; extracellular region; endopeptidase inhibitor activity; plasma membrane; extracellular space; negative regulation of endopeptidase activity
Homolog in other species CD109
Omim http://omim.org/entry/608859
Immgen Expression
LOW/MEDIAN(HIGH IN MF.THIO5.II-480HI.PC)
Gnf Expression
LOW/MEDIAN(HIGH IN RETINA, UMBLICALCORD, DIGIS, EPIDERMIS TISSUES,TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000046186
Chromosome 9
Coordinate 78,671,989     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 14
Allele Frequency
T:R0.64
A:V0.36
Amino Acid Change Disrupted splicing
Splice Position 4
Sample ID IGL02699
Median Base Quality 40
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved