ALS2CR8 79800 broad.mit.edu 37 2 203848231 203848231 + Nonsense SNP G T T NBL1 NBL1G Phase_I Unspecified Illumina GAIIx g.chr2:203848231G>T uc002uzo.2 + c.2342G>T c.(2342-2344)GAA>TAA p.E688* ALS2CR8_uc010zia.1_Nonsense_p.E612*|ALS2CR8_uc010zib.1_Nonsense_p.E612*|ALS2CR8_uc010zic.1_Nonsense_p.E600*|ALS2CR8_uc002uzp.2_Nonsense_p.E688* NM_001104586 NP_001098056 Q8N187 AL2S8_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 688 large_intestine(1)|ovary(1) 2 --- --- --- --- --- ---
ARHGEF6 9459 broad.mit.edu 37 X 135768476 135768476 + Intron SNP C A A NBL1 NBL1G Phase_I Unspecified Illumina GAIIx g.chrX:135768476C>A uc004fab.2 - ARHGEF6_uc011mwd.1_Intron|ARHGEF6_uc011mwe.1_Intron NM_004840 NP_004831 Rac/Cdc42 guanine nucleotide exchange factor 6 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) --- --- --- --- --- ---
BMPR2 659 broad.mit.edu 37 2 203264721 203264721 + Intron SNP G T T NBL1 NBL1G Phase_I Unspecified Illumina GAIIx g.chr2:203264721G>T uc002uzf.3 + BMPR2_uc010ftr.2_Intron|BMPR2_uc002uze.2_Intron NM_001204 NP_001195 bone morphogenetic protein receptor type II anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|protein serine/threonine kinase activity|transforming growth factor beta receptor activity ovary(4)|large_intestine(1)|stomach(1)|pancreas(1) 7 --- --- --- --- --- ---
PSPH 5723 broad.mit.edu 37 7 56088786 56088786 + Synonymous SNP A T T rs78053553 byFrequency;by1000genomes NBL1 NBL1G Phase_I Unspecified Illumina GAIIx g.chr7:56088786A>T uc003trj.2 - c.522T>A c.(520-522)GTT>GTA p.V69V PSPH_uc003trg.2_Synonymous_p.V40V|PSPH_uc003trh.2_Synonymous_p.V40V|PSPH_uc003tri.2_Synonymous_p.V40V NM_004577 NP_004568 P78330 SERB_HUMAN phosphoserine phosphatase 40 L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity ovary(1)|skin(1) 2 Breast(14;0.214) --- --- --- --- --- ---