Table 1.
The Eight HC-GSSVs Located in the Gene-Coding Regions.
| Positiona | Length (bp) | Type | Gene | Consequenceb | Gene function or diseasec |
|---|---|---|---|---|---|
| Chr2:232,330,767–232,330,767 | 186 | DEL | DIS3L2 | c, d | RNA degradation |
| Chr15:88,857,790–88,857,790 | 60 | DEL | ACAN | d | Skeletal development |
| Chr5:79,736,810–79,736,810 | 264 | INS | CMYA5 | e | Schizophrenia, skeletal muscle development |
| Chr15:81,135,350–81,135,983 | 633 | INS | CFAP161 | a, f | Ciliary motion |
| Chr11:71,961,971–71,962,270 | 299 | INS | RNF121 | a, g, h | Regulation of cell cycle, signal transduction |
| Chr8:127,415,807–127,417,219 | 1,412 | INS | POU5F1B | b, h | Weak transcriptional activator |
| Chr10:77,994,516–77,999,310 | 4,794 | INS | POLR3A | a, f, g, h | Spastic ataxia |
| ChrX:14,915,424–14,915,588 | 164 | INS | MOSPD2 | a, g, h | Intracellular exchanges and communication |
a
The coordinates are based on human GRCh38.
b
The consequence contains the following: (a) coding_sequence; (b) start_lost; (c) stop_gained; (d) inframe_insertion; (e) inframe_deletion; (f) splice_donor; (g) splice_acceptor; and (h) UTR.
c
The gene functions and disease are collected from GeneCard, MGI database, and literatures (Zanke et al. 2007; Panagopoulos et al. 2008; Chen et al. 2011; Austin-Tse et al. 2013; Morris et al. 2013; Rafnar et al. 2014; Gao et al. 2017; Hu et al. 2017; Di Mattia et al. 2018; Hoya et al. 2018; Lee et al. 2018; Pan et al. 2018; Infante et al. 2020; Wei et al. 2021).