Table 2. Human Gene Candidate Analysis.

Human Gene	Known Disease in OMIM	pLI	pLI o/e	Missense Z score	Missense Z score o/e	Domino
GSK3A	None	1	0	3.2	0.43	1A
BRD4	None	1	0	3.74	0.63	0.997A
UPF1	None	1	0.07	5.7	0.41	0.996A
L1CAM	# 304100, # 303350, # 307000	1	0.04	2.84	0.66	n/a
NFASC	# 618356	1	0.12	2.59	0.74	0.871A
BRD3	None	0.98	0.14	3.76	0.64	0.893A
GSK3B	None	0.96	0.14	2.91	0.48	1A
SMAD3	# 613795	0.84	0.17	3.47	0.39	0.999A
UPF2	None	1	0.03	3.3	0.65	0.723B
WDR7	None	1	0.10	2.63	0.75	0.636B
BRD2	None	1	0.08	0.5	0.93	0.474C
MTPAP	# 613672	1	0.04	1.05	0.84	0.242D
PTAR1	None	0.85	0.15	1.51	0.71	0.275D
NRCAM	None	0.18	0.24	2.05	0.79	0.191E
FH	# 606812 - # 150800	0.09	0.28	1.39	0.77	0.371D
HINFP	None	0.03	0.29	1.73	0.73	0.719B
PI4KA	# 616531	0	0.36	3.53	0.72	0.589C
BRDT	# 617644	0	0.46	0.47	0.94	0.209D
CHL1	None	0	0.47	−1.92	1.21	0.152 E
USP45	None	0	0.74	0.75	0.90	0.168 E
COQ7	# 616733	0	0.88	−0.42	1.10	0.091 E
RFT1	# 612015	0	0.77	0.97	0.84	0.063 E
COQ8B (a.k.a. ADCK4)	# 615573	0	0.78	0.89	0.87	0.056 E

The human homologs of the X-Pex genes were examined for known Mendelian disease association (OMIM # entries) with genes that are not known to cause disease shown in red (Amberger et al. 2015). These are further sorted using data from the public human database gnomAD and the DOMINO scoring system for dominant disease. “pLI” score shows the probability (from 0-1) of a gene having intolerance to loss-of-function variation in the population of individuals represented in gnomAD data. “Missense z-score” show a z-score value for rates of missense variation in a gene. “pLI-o/e” is the observed / expected for loss-of-function variants in a gene, while “Missense o/e” is a similar ratio for missense variants. For DOMINO scores the code shows ^A = “Very likely dominant (0.8-1)”, ^B = “Likely dominant (0.6-0.7)”, ^C = “Either dominant or recessive (0.4-0.5)”, ^D = “Likely recessive (0.2-0.3), ^E = “Very Likely recessive (0-0.1)”