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Table 5 Summary of the characteristics of genes connected in the “Gene expression, cellular growth and proliferation, tissue development” network

From: Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer

Gene symbol Gene name Exonic variant type Accession number Amino acid change Inheritance
PAIS
 AR Androgen receptor Missense NM_000044 p.R841H Mother
Candidate gene approach
 ERBB2 Erb-b2 receptor tyrosine kinase 2 Missense NM_001005862 p.P1140A Father/de novo
Whole-exome approach
 ADHFE1 Alcohol dehydrogenase, iron containing, 1 Stop gain NM_144650 p.R6X NV
 AHNAK2 AHNAK nucleoprotein 2 Stop gain NM_138420 p.W4640X NV
 BTN3A3 Butyrophilin, subfamily 3, member A3 Stop gain NM_006994 p.Trp171X NV
 CHMP2B Charged multivesicular body protein 2B Stop gain NM_014043 p.Arg22X Father
 DENND2D DENN/MADD domain containing 2D Stop gain NM_024901 p.Arg16X Mother
 HYDIN HYDIN, axonemal central pair apparatus protein Frameshift del NM_001270974 p.I3904fs Father/mother
 KALRN Kalirin, RhoGEF kinase Stop gain NM_007064 p.Arg10X Mother
 MEP1A Meprin A, alpha (PABA peptide hydrolase) Stop gain NM_005588 p.Q296X Mother
 SCCPDH Saccharopine dehydrogenase (putative) Frameshift ins NM_016002 p.V55fs NV
 TGM4 Transglutaminase 4 Stop gain NM_003241 p.W269X Father
 ZNF844 Zinc finger protein 844 Frameshift del NM_001136501 p.L346fs Mother
Gene content Chromosomal aberration Inheritance
SNP array
 MIR650, MIR5571, IGLL5 22q11.22 (23,004,886–23,258,369) × 3 Father/mother