Table 4.
Gene and function | Symbol | Band | # Studies | np | |I| | |A ∩ I| | p |
---|---|---|---|---|---|---|---|
SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase Nonreceptor tyrosine kinase, frequently implicated in cancer |
SRC | 20q11.23 | 0 | 5 | 532 | 82 | 2.00·10−8 |
Tumor Protein P53 Involved in cell cycle regulation where negatively regulate cell division. Mutations in this gene are associated with a variety of human cancers |
TP53 | 17p13.1 | 25 | 4 | 719 | 92 | 1.36·10−5 |
AKT Serine/Threonine Kinase 1 Implicated in the regulation of cell growth, proliferation, survival and differentiation (OMIM 164730) |
AKT1 | 14q32.33 | 25 | 4 | 589 | 73 | 2.90·10−4 |
Ras Homolog Family Member A Regulates remodeling of the actin cytoskeleton during cell morphogenesis and motility. Overexpression of this gene is associated with tumor cell proliferation and metastasis |
RHOA | 3p21.31 | 13 | 4 | 406 | 65 | 1.53·10−7 |
Mitogen-Activated Protein Kinase 14 is a member of the MAP kinase family that are involved in cellular processes such as proliferation, differentiation, transcription regulation and development |
MAPK14 | 6p21.31 | 11 | 4 | 333 | 44 | 1.30·10−3 |
Histone Deacetylase 3 belongs to the histone deacetylase family and represses transcription when tethered to a promoter; down-regulates p53 function and thus modulate cell growth and apoptosis |
HDAC3 | 5q31.3 | 8 | 4 | 275 | 43 | 3.54·10−5 |
Heat Shock Protein 90 Alpha Family Class A Member 1 is a molecular chaperone involved in signal transduction, protein folding, protein degradation, and morphologic evolution. |
HSP90AA1 | 14q32.31 | 10 | 3 | 589 | 65 | 9.99·10−3 |
Amyloid Beta Precursor Protein Is involved in promoting transcriptional activation; can participate in the formation of amyloid plaques of Alzheimer disease. |
APP | 21q21.3 | 15 | 3 | 363 | 42 | 1.68·10−2 |
Histone Deacetylase 1 Is a histone deacetylase and represses transcription; interacts with retinoblastoma tumor-suppressor protein to control cell proliferation and differentiation; modulates p53 effect on cell growth and apoptosis. |
HDAC1 | 1p35.2 | 12 | 3 | 351 | 48 | 3.69·10−4 |
Cell Division Cycle 42 Acts in cell morphology, migration, endocytosis and cell cycle progression. |
CDC42 | 1p36.12 | 9 | 3 | 336 | 56 | 2.97·10−7 |
Growth Factor Receptor Bound Protein 2 is involved in the signal transduction pathway. |
GRB2 | 17q25.1 | 21 | 3 | 279 | 42 | 1.06·10−4 |
Protein Kinase CAMP-Activated Catalytic Subunit Alpha phosphorylates proteins and substrates, changing their activity; contributes to the control glucose metabolism, cell division, and contextual memory; developmental changes in synapse morphology. |
PRKACA | 19p13.12 | 14 | 3 | 278 | 41 | 2.00·10−4 |
SOS Ras/Rac Guanine Nucleotide Exchange Factor 1 participates in signal transduction pathways. |
SOS1 | 2p22.1 | 14 | 3 | 260 | 50 | 1.26·10−8 |
SMAD Family Member 3 signal transducer and transcriptional modulator that mediates multiple signaling pathways probably involved in carcinogenesis |
SMAD3 | 15q22.33 | 1 | 3 | 241 | 33 | 2.83·10−3 |
Protein Kinase CAMP-Activated Catalytic Subunit Beta is a member of the serine/threonine protein kinase family involved in cell proliferaton and differentiation |
PRKACB | 1p31.1 | 22 | 3 | 213 | 28 | 9.81·10−3 |
Cbl Proto-Oncogene targets substrates for degradation by the proteasome; is mutated or translocated in many cancers |
CBL | 11q23.3 | 12 | 3 | 203 | 37 | 3.77·10−6 |
Protein Kinase CAMP-Activated Catalytic Subunit Gamma is involved in the regulation of lipid and glucose metabolism and in the memory formation signaling cascade |
PRKACG | 9q21.11 | 7 | 3 | 185 | 27 | 2.70·10−3 |
Ras Homolog Family Member B Involved in intracellular protein trafficking of a number of proteins; plays a negative role in tumorigenesis |
RHOB | 2p24.1 | 8 | 3 | 174 | 38 | 2.19·10−8 |
SOS Ras/Rho Guanine Nucleotide Exchange Factor 2 is involved in the positive regulation of ras proteins |
SOS2 | 14q21.3 | 12 | 3 | 109 | 24 | 7.36·10−6 |
Dynamin 2 produces microtubule bundles and binds and hydrolyzes GTP; regulates neuron morphology, axon growth; vesicular trafficking processes and cytokinesis |
DNM2 | 19p13.2 | 19 | 3 | 84 | 21 | 3.27·10−6 |
Gene and function from GeneCards (Safran et al., 2003) and OMIM (Amberger et al., 2015); Band: cytogenetic band associated with genetic variations in SFARI (Abrahams et al., 2013); # Studies: number of studies supporting the genetic variations observed in the cytogenetic bands; I: interactors; A: ASD risk genes, |A| = 956; np: number of ASD risk gene sets the gene is network proximity to; I: interactors; p: probability that |A ∩ I| is greater than or equal to the observed value in a hypergeometric experiment; the total number of genes composing the network is 11,535.