Whole-Exome Sequencing Reveals Mutational Signature of Hypertrophic Cardiomyopathy

Figures & data

Table 1 Variant Gene and Locus Statistics

Sample	Gene	SNV and InDel
MKHS200009134	887	1128
MKHS200017468	860	1124
MKHS200017475	868	1169
MKHS200017502	883	1162
MKHS200017509	863	1155
MKHS200017513	848	1122
MKHS200039213	859	1130
MKHS200039219	836	1106
MKHS200039231	899	1164
TKQX210000940	880	1177
TKQX210001484	844	1104
TKQX210001882	881	1149
TKQX210003630	918	1187
TKQX210003631	911	1208

Figure 1 Characteristics of SNV in HCM patients. (A), Statistics of exon region variation type. Different colors represent different mutation types. (B), Mutation signatures of different mutation types in different samples. (C), Top 15 mutation base type statistics. (D), Top 30 variant genes.

Figure 2 SNV-related variant gene functional enrichment analysis. (A), The GO analysis of SNV-related variant genes. Different color represent the FDR value. (B), The KEGG pathway analysis of SNV-related variant genes. Different color represent the FDR value. (C), The PPI analysis of SNV-related variant genes.

Table 2 The Number of Variants in Genes Shared by HCM Patients

Sample	Variants	Sample	Variants
MKHS200009134	133	MKHS200039219	148
MKHS200017468	139	MKHS200039231	143
MKHS200017475	148	TKQX210000940	150
MKHS200017502	110	TKQX210001484	133
MKHS200017509	142	TKQX210001882	140
MKHS200017513	123	TKQX210003630	119
MKHS200039213	143	TKQX210003631	140

Table 3 The Common Variant Loci of Shared Genes in HCM Patients

Gene	Chr	Ref	Alt	Exonic Func Ref Gene
FCGBP	19	A	AAGG	Nonframeshift_insertion
FCGBP	19	GGGC	G	Nonframeshift_deletion
FCGBP	19	C	T	Nonsynonymous_SNV
GOLGA6L7	15	G	A	Unknown
GPRIN2	10	T	G	Nonsynonymous_SNV
GPRIN2	10	C	A	Nonsynonymous_SNV
GPRIN2	10	A	G	Nonsynonymous_SNV
GPRIN2	10	G	C	Nonsynonymous_SNV
GPRIN2	10	C	T	Nonsynonymous_SNV
GPRIN2	10	C	T	Nonsynonymous_SNV
GPRIN2	10	G	GCCCCCACCT	Nonframeshift_insertion
GPRIN2	10	T	C	Nonsynonymous_SNV
GPRIN2	10	A	G	Nonsynonymous_SNV
GPRIN2	10	C	A	Nonsynonymous_SNV
GPRIN2	10	C	T	Nonsynonymous_SNV
GPRIN2	10	C	A	Nonsynonymous_SNV
GPRIN2	10	C	T	Nonsynonymous_SNV
MUC12	7	A	ACTG	Nonframeshift_insertion
MUC2	11	T	C	Unknown
MUC2	11	T	C	Unknown
MUC3A	7	C	A	Nonsynonymous_SNV
MUC3A	7	T	TCAG	Nonframeshift_insertion
MUC3A	7	A	G	Nonsynonymous_SNV
MUC3A	7	G	C	Nonsynonymous_SNV

Table 4 Statistics of Variant CNV Regions in HCM Patients

Sample	Number	Sample	Number
MKHS200009134	1774	MKHS200039219	1814
MKHS200017468	1337	MKHS200039231	1387
MKHS200017475	1066	TKQX210000940	1618
MKHS200017502	1046	TKQX210001484	1360
MKHS200017509	1121	TKQX210001882	2270
MKHS200017513	3085	TKQX210003630	1834
MKHS200039213	1816	TKQX210003631	1105

Table 5 Gene Statistics in Shared CNV Regions

Chr	Start	End	Length	Gene Name	CNV
2	85,788,509	85,823,772	35,263	VAMP8:F|GGCX:P |RNF181:P|VAMP5:F	Deletion
2	210,884,393	210,908,828	24,435	RP11-260M2.1:F|AC007038.7:P|RPE:P|KANSL1L:P	Deletion
6	111,650,735	111,685,181	34,446	REV3L-IT1:F|REV3L:P|FCF1P5:F	Deletion
11	71,948,753	72,004,659	55,906	PHOX2A:F|CLPB:P|AP000593.6:F|INPPL1:P|AP000593.5:F	Deletion
13	115,007,596	115,091,756	84,160	CHAMP1:P|CDC16:P|UPF3A:F|CLCP2:F|MIR4502:F	Deletion

Figure 3 Characteristics of CNV variants in HCM patients. (A), CNV variants signature of each HCM patient. (B), Statistics of CNV variants characteristics for each chromosome.

Figure 4 CNV-related variant gene functional enrichment analysis. (A), The GO analysis of CNV-related variant genes. (B), The KEGG pathway analysis of CNV-related variant genes. (C), The PPI analysis of CNV-related variant genes.

Figure 5 Transcriptomic data analysis of HCM patients. (A), Heat map of DEGs in HCM patients. From left to right are GSE89714, GSE133054 and GSE160997. (B), The GO analysis of DEGs of GSE89714. (C), The KEGG pathway analysis of DEGs of GSE89714. (D), The GO analysis of DEGs of GSE133054. (E), The KEGG pathway analysis of DEGs of GSE133054. (F), The GO analysis of DEGs of GSE160997. (G), The KEGG pathway analysis of DEGs of GSE160997.