PsyMuKB

Visualization of regulatory element with DNMs in transcripts

Visualization of de novo variants in transcripts

Visualization of original de novo CNV set

There is no corresponding data published yet, we will update it when such data available.

Transcripts

Transcript ID	Transcript exon region	Coding exon region
ENST00000216733	[[23825610, 23826869], [23828084, 23828174], [23828525, 23829248], [23829349, 23829490], [23829763, 23830042], [23834216, 23834842]]	[[23826434, 23826869], [23828084, 23828174], [23828525, 23829248], [23829349, 23829490], [23829763, 23830042], [23834216, 23834234]]
ENST00000351354	[[23825864, 23826869], [23828084, 23828174], [23828525, 23829248], [23829349, 23829490], [23834216, 23834961]]	[[23826434, 23826869], [23828084, 23828174], [23828525, 23829248], [23829349, 23829490], [23834216, 23834234]]
ENST00000429593	[[23826092, 23826869], [23828084, 23828174], [23828525, 23828903], [23829131, 23829248], [23829349, 23829490], [23834216, 23834419]]	[[23826434, 23826869], [23828084, 23828174], [23828525, 23828903], [23829131, 23829248], [23829349, 23829490], [23834216, 23834234]]
NM_005864	[[23825608, 23826869], [23828084, 23828174], [23828525, 23829248], [23829349, 23829490], [23829763, 23830042], [23834216, 23834842]]	[[23826434, 23826869], [23828084, 23828174], [23828525, 23829248], [23829349, 23829490], [23829763, 23830042], [23834216, 23834234]]
NM_032459	[[23825608, 23826869], [23828084, 23828174], [23828525, 23829248], [23829349, 23829490], [23834216, 23834842]]	[[23826434, 23826869], [23828084, 23828174], [23828525, 23829248], [23829349, 23829490], [23834216, 23834234]]
NM_001277174	[[23825608, 23826869], [23828084, 23828174], [23828525, 23828903], [23829131, 23829248], [23829349, 23829490], [23834216, 23834842]]	[[23826434, 23826869], [23828084, 23828174], [23828525, 23828903], [23829131, 23829248], [23829349, 23829490], [23834216, 23834234]]

Promoter

Chrom	Start	End	Description
chr14	23834359	23834393	CAGE_peak_1_at_EFS_5end
chr14	23834411	23834432	CAGE_peak_2_at_EFS_5end
chr14	23834610	23834686	CAGE_peak_3_at_EFS_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I023297	23297962	23303437	2.32	[{'connected_gene': 'PPP1R3E', 'score': 550.77}, {'connected_gene': 'BCL2L2', 'score': 550.77}, {'connected_gene': 'HOMEZ', 'score': 550.77}, {'connected_gene': 'PIR57322', 'score': 550.77}, {'connected_gene': 'ACIN1', 'score': 52.97}, {'connected_gene': 'RNA5SP383', 'score': 46.55}, {'connected_gene': 'RNF31', 'score': 41.76}, {'connected_gene': 'LOC102724814', 'score': 32.41}, {'connected_gene': 'ENSG00000259321', 'score': 27.64}, {'connected_gene': 'RBM23', 'score': 26.62}, {'connected_gene': 'NGDN', 'score': 25.31}, {'connected_gene': 'TINF2', 'score': 25.28}, {'connected_gene': 'PRMT5', 'score': 23.78}, {'connected_gene': 'TM9SF1', 'score': 23.3}, {'connected_gene': 'C14orf93', 'score': 21.62}, {'connected_gene': 'HAUS4', 'score': 20.75}, {'connected_gene': 'C14orf119', 'score': 12.81}, {'connected_gene': 'MMP14', 'score': 10.66}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.42}, {'connected_gene': 'IPO4', 'score': 10.16}, {'connected_gene': 'EFS', 'score': 10.08}, {'connected_gene': 'ENSG00000258457', 'score': 9.73}, {'connected_gene': 'NOP9', 'score': 9.71}, {'connected_gene': 'PSME2', 'score': 9.65}, {'connected_gene': 'DHRS4-AS1', 'score': 4.98}]
chr14	GH14I023319	23319967	23323525	2.11	[{'connected_gene': 'PABPN1', 'score': 550.77}, {'connected_gene': 'ACIN1', 'score': 53.26}, {'connected_gene': 'NGDN', 'score': 41.68}, {'connected_gene': 'PRMT5', 'score': 31.63}, {'connected_gene': 'RNF31', 'score': 27.36}, {'connected_gene': 'RNA5SP383', 'score': 23.23}, {'connected_gene': 'HOMEZ', 'score': 22.32}, {'connected_gene': 'IPO4', 'score': 21.48}, {'connected_gene': 'NOP9', 'score': 20.02}, {'connected_gene': 'THTPA', 'score': 19.25}, {'connected_gene': 'RBM23', 'score': 15.63}, {'connected_gene': 'TSSK4', 'score': 15.5}, {'connected_gene': 'C14orf93', 'score': 14.94}, {'connected_gene': 'LOC102724814', 'score': 13.81}, {'connected_gene': 'TINF2', 'score': 12.56}, {'connected_gene': 'CIDEB', 'score': 12.51}, {'connected_gene': 'HAUS4', 'score': 11.95}, {'connected_gene': 'ENSG00000259321', 'score': 11.53}, {'connected_gene': 'PRMT5-AS1', 'score': 11.47}, {'connected_gene': 'TM9SF1', 'score': 11.09}, {'connected_gene': 'OXA1L', 'score': 10.46}, {'connected_gene': 'C14orf119', 'score': 10.38}, {'connected_gene': 'SLC7A8', 'score': 9.83}, {'connected_gene': 'LRP10', 'score': 9.73}, {'connected_gene': 'EFS', 'score': 4.87}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 0.39}, {'connected_gene': 'GC14P024187', 'score': 0.37}]
chr14	GH14I024187	24187003	24189616	1.83	[{'connected_gene': 'IPO4', 'score': 569.28}, {'connected_gene': 'NGDN', 'score': 66.93}, {'connected_gene': 'RNA5SP383', 'score': 43.21}, {'connected_gene': 'KHNYN', 'score': 41.17}, {'connected_gene': 'RNF31', 'score': 39.97}, {'connected_gene': 'NFATC4', 'score': 36.33}, {'connected_gene': 'LOC102724814', 'score': 33.71}, {'connected_gene': 'ENSG00000259321', 'score': 23.33}, {'connected_gene': 'SDR39U1', 'score': 21.94}, {'connected_gene': 'SLC22A17', 'score': 21.61}, {'connected_gene': 'NYNRIN', 'score': 20.91}, {'connected_gene': 'CIDEB', 'score': 19.83}, {'connected_gene': 'NOP9', 'score': 19.01}, {'connected_gene': 'EFS', 'score': 17.98}, {'connected_gene': 'TM9SF1', 'score': 12.94}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'TSSK4', 'score': 11.95}, {'connected_gene': 'TINF2', 'score': 11.77}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.83}, {'connected_gene': 'RABGGTA', 'score': 10.18}, {'connected_gene': 'BCL2L2', 'score': 9.99}, {'connected_gene': 'HOMEZ', 'score': 9.85}, {'connected_gene': 'DHRS4L2', 'score': 5.43}, {'connected_gene': 'EMC9', 'score': 5.16}, {'connected_gene': 'ENSG00000259522', 'score': 0.77}, {'connected_gene': 'PIR48221', 'score': 0.77}, {'connected_gene': 'ENSG00000254692', 'score': 0.31}]
chr14	GH14I023250	23250712	23253329	0.54	[{'connected_gene': 'BCL2L2', 'score': 11.28}, {'connected_gene': 'HOMEZ', 'score': 11.28}, {'connected_gene': 'PPP1R3E', 'score': 11.26}, {'connected_gene': 'CMTM5', 'score': 10.91}, {'connected_gene': 'CEBPE', 'score': 10.69}, {'connected_gene': 'IL25', 'score': 10.66}, {'connected_gene': 'RNF212B', 'score': 10.59}, {'connected_gene': 'SLC7A8', 'score': 10.59}, {'connected_gene': 'SLC22A17', 'score': 10.55}, {'connected_gene': 'MYH6', 'score': 10.45}, {'connected_gene': 'EFS', 'score': 10.39}, {'connected_gene': 'MIR208B', 'score': 10.2}, {'connected_gene': 'RNU6-1138P', 'score': 10.08}, {'connected_gene': 'MYH7', 'score': 9.63}, {'connected_gene': 'RNU6-1046P', 'score': 0.44}, {'connected_gene': 'RPL39P2', 'score': 0.34}]
chr14	GH14I023328	23328132	23328281	0.8	[{'connected_gene': 'SLC22A17', 'score': 11.35}, {'connected_gene': 'EFS', 'score': 11.29}, {'connected_gene': 'CMTM5', 'score': 11.18}, {'connected_gene': 'PPP1R3E', 'score': 11.18}, {'connected_gene': 'BCL2L2', 'score': 11.18}, {'connected_gene': 'HOMEZ', 'score': 11.18}, {'connected_gene': 'MIR208A', 'score': 10.92}, {'connected_gene': 'IL25', 'score': 10.56}, {'connected_gene': 'MYH6', 'score': 10.48}, {'connected_gene': 'MIR208B', 'score': 10.13}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.0}, {'connected_gene': 'ZFHX2', 'score': 9.99}, {'connected_gene': 'PABPN1', 'score': 0.44}, {'connected_gene': 'GC14P024187', 'score': 0.39}]
chr14	GH14I024091	24090400	24096893	2.51	[{'connected_gene': 'PCK2', 'score': 550.77}, {'connected_gene': 'RNA5SP383', 'score': 31.84}, {'connected_gene': 'NGDN', 'score': 31.53}, {'connected_gene': 'ACIN1', 'score': 27.27}, {'connected_gene': 'NYNRIN', 'score': 22.27}, {'connected_gene': 'NFATC4', 'score': 21.86}, {'connected_gene': 'KHNYN', 'score': 21.33}, {'connected_gene': 'IPO4', 'score': 20.52}, {'connected_gene': 'SLC7A8', 'score': 14.08}, {'connected_gene': 'TINF2', 'score': 12.92}, {'connected_gene': 'CARMIL3', 'score': 11.9}, {'connected_gene': 'C14orf119', 'score': 11.57}, {'connected_gene': 'NRL', 'score': 11.43}, {'connected_gene': 'DCAF11', 'score': 11.43}, {'connected_gene': 'SDR39U1', 'score': 11.24}, {'connected_gene': 'ENSG00000259321', 'score': 10.98}, {'connected_gene': 'TM9SF1', 'score': 10.67}, {'connected_gene': 'IRF9', 'score': 10.38}, {'connected_gene': 'RNF31', 'score': 10.16}, {'connected_gene': 'EMC9', 'score': 10.11}, {'connected_gene': 'LOC102724814', 'score': 10.05}, {'connected_gene': 'EFS', 'score': 9.91}, {'connected_gene': 'TSSK4', 'score': 9.89}, {'connected_gene': 'NOP9', 'score': 9.77}, {'connected_gene': 'DHRS4', 'score': 5.72}, {'connected_gene': 'CPNE6', 'score': 0.34}]
chr14	GH14I024139	24139155	24142836	2.1	[{'connected_gene': 'EMC9', 'score': 590.68}, {'connected_gene': 'ENSG00000259321', 'score': 550.77}, {'connected_gene': 'NFATC4', 'score': 40.13}, {'connected_gene': 'NGDN', 'score': 24.35}, {'connected_gene': 'HOMEZ', 'score': 22.0}, {'connected_gene': 'IPO4', 'score': 21.7}, {'connected_gene': 'THTPA', 'score': 19.2}, {'connected_gene': 'TSSK4', 'score': 15.68}, {'connected_gene': 'PABPN1', 'score': 13.53}, {'connected_gene': 'MDP1', 'score': 12.71}, {'connected_gene': 'NOP9', 'score': 12.11}, {'connected_gene': 'SDR39U1', 'score': 11.8}, {'connected_gene': 'RNF31', 'score': 11.43}, {'connected_gene': 'LOC102724814', 'score': 10.62}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.01}, {'connected_gene': 'EFS', 'score': 9.91}, {'connected_gene': 'RIPK3', 'score': 5.95}]
chr14	GH14I024113	24113283	24116397	2.13	[{'connected_gene': 'NRL', 'score': 550.77}, {'connected_gene': 'DCAF11', 'score': 550.77}, {'connected_gene': 'RNF31', 'score': 32.74}, {'connected_gene': 'NFATC4', 'score': 32.08}, {'connected_gene': 'IPO4', 'score': 31.32}, {'connected_gene': 'HOMEZ', 'score': 30.09}, {'connected_gene': 'RNA5SP383', 'score': 27.44}, {'connected_gene': 'TSSK4', 'score': 24.61}, {'connected_gene': 'TM9SF1', 'score': 24.46}, {'connected_gene': 'KHNYN', 'score': 24.4}, {'connected_gene': 'NGDN', 'score': 24.35}, {'connected_gene': 'TINF2', 'score': 23.38}, {'connected_gene': 'LOC102724814', 'score': 21.0}, {'connected_gene': 'THTPA', 'score': 19.2}, {'connected_gene': 'EMC9', 'score': 18.08}, {'connected_gene': 'NOP9', 'score': 12.09}, {'connected_gene': 'PSME1', 'score': 11.86}, {'connected_gene': 'PCK2', 'score': 11.13}, {'connected_gene': 'PSME2', 'score': 11.04}, {'connected_gene': 'IRF9', 'score': 10.43}, {'connected_gene': 'EFS', 'score': 9.9}, {'connected_gene': 'CIDEB', 'score': 9.79}]
chr14	GH14I022835	22835112	22840508	2.32	[{'connected_gene': 'MMP14', 'score': 562.06}, {'connected_gene': 'NGDN', 'score': 22.13}, {'connected_gene': 'ACIN1', 'score': 19.34}, {'connected_gene': 'MRPL52', 'score': 13.86}, {'connected_gene': 'LOC102724814', 'score': 12.95}, {'connected_gene': 'PRMT5', 'score': 12.39}, {'connected_gene': 'EFS', 'score': 12.37}, {'connected_gene': 'RBM23', 'score': 12.32}, {'connected_gene': 'HAUS4', 'score': 11.92}, {'connected_gene': 'C14orf93', 'score': 11.78}, {'connected_gene': 'CDH24', 'score': 11.09}, {'connected_gene': 'SLC7A8', 'score': 3.92}, {'connected_gene': 'LRP10', 'score': 2.01}, {'connected_gene': 'PSMB5', 'score': 1.38}, {'connected_gene': 'PIR54043', 'score': 0.39}]
chr14	GH14I022456	22456247	22462399	1.23	[{'connected_gene': 'TRDJ3', 'score': 550.77}, {'connected_gene': 'PRMT5-AS1', 'score': 12.75}, {'connected_gene': 'METTL3', 'score': 10.07}, {'connected_gene': 'EFS', 'score': 9.77}, {'connected_gene': 'MMP14', 'score': 9.74}, {'connected_gene': 'TRDC', 'score': 0.77}, {'connected_gene': 'TRDJ2', 'score': 0.77}, {'connected_gene': 'ENSG00000251002', 'score': 0.34}, {'connected_gene': 'LOC105370401', 'score': 0.31}, {'connected_gene': 'TRD', 'score': 0.28}, {'connected_gene': 'TRA', 'score': 0.03}]
chr14	GH14I023548	23547460	23549800	1.15	[{'connected_gene': 'NGDN', 'score': 12.99}, {'connected_gene': 'EFS', 'score': 12.43}, {'connected_gene': 'CDH24', 'score': 11.05}, {'connected_gene': 'AP1G2', 'score': 10.62}, {'connected_gene': 'NYNRIN', 'score': 10.01}, {'connected_gene': 'NFATC4', 'score': 10.0}, {'connected_gene': 'DHRS4', 'score': 5.02}, {'connected_gene': 'LOC102724814', 'score': 4.94}, {'connected_gene': 'DHRS4-AS1', 'score': 4.7}, {'connected_gene': 'ZFHX2', 'score': 0.44}, {'connected_gene': 'ENSG00000273618', 'score': 0.37}, {'connected_gene': 'THTPA', 'score': 0.28}, {'connected_gene': 'ZFHX2-AS1', 'score': 0.28}]
chr14	GH14I023065	23065463	23067064	0.57	[{'connected_gene': 'NGDN', 'score': 12.86}, {'connected_gene': 'EFS', 'score': 12.4}, {'connected_gene': 'PSMB11', 'score': 12.3}, {'connected_gene': 'PSMB5', 'score': 12.26}, {'connected_gene': 'CDH24', 'score': 11.45}, {'connected_gene': 'ACIN1', 'score': 11.21}, {'connected_gene': 'C14orf93', 'score': 10.96}, {'connected_gene': 'C14orf119', 'score': 10.78}, {'connected_gene': 'AJUBA', 'score': 10.67}, {'connected_gene': 'HAUS4', 'score': 10.54}, {'connected_gene': 'RNF212B', 'score': 10.03}, {'connected_gene': 'SLC7A8', 'score': 10.03}]
chr14	GH14I024194	24194150	24197603	2.09	[{'connected_gene': 'TM9SF1', 'score': 566.24}, {'connected_gene': 'PIR45873', 'score': 550.77}, {'connected_gene': 'RNF31', 'score': 32.57}, {'connected_gene': 'TINF2', 'score': 25.35}, {'connected_gene': 'MDP1', 'score': 22.41}, {'connected_gene': 'SLC22A17', 'score': 21.61}, {'connected_gene': 'PSME2', 'score': 20.64}, {'connected_gene': 'KHNYN', 'score': 17.19}, {'connected_gene': 'RNA5SP383', 'score': 14.59}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'LOC102724814', 'score': 12.4}, {'connected_gene': 'CIDEB', 'score': 12.29}, {'connected_gene': 'SDR39U1', 'score': 11.85}, {'connected_gene': 'REC8', 'score': 11.71}, {'connected_gene': 'NEDD8-MDP1', 'score': 11.47}, {'connected_gene': 'NEDD8', 'score': 11.47}, {'connected_gene': 'PABPN1', 'score': 10.8}, {'connected_gene': 'IPO4', 'score': 10.57}, {'connected_gene': 'ENSG00000259321', 'score': 10.47}, {'connected_gene': 'TGM1', 'score': 10.3}, {'connected_gene': 'NFATC4', 'score': 10.14}, {'connected_gene': 'BCL2L2', 'score': 9.99}, {'connected_gene': 'EFS', 'score': 9.91}, {'connected_gene': 'TSSK4', 'score': 5.62}, {'connected_gene': 'DHRS4', 'score': 4.29}, {'connected_gene': 'ENSG00000276698', 'score': 0.77}, {'connected_gene': 'ENSG00000254692', 'score': 0.37}]
chr14	GH14I022927	22927991	22931223	2.34	[{'connected_gene': 'PRMT5', 'score': 577.08}, {'connected_gene': 'LOC101926933', 'score': 550.77}, {'connected_gene': 'TRR-ACG1-3', 'score': 550.77}, {'connected_gene': 'HAUS4', 'score': 62.99}, {'connected_gene': 'NGDN', 'score': 61.55}, {'connected_gene': 'ACIN1', 'score': 44.74}, {'connected_gene': 'RBM23', 'score': 24.96}, {'connected_gene': 'LOC102724814', 'score': 24.7}, {'connected_gene': 'PABPN1', 'score': 24.44}, {'connected_gene': 'SLC7A8', 'score': 22.47}, {'connected_gene': 'SLC22A17', 'score': 21.63}, {'connected_gene': 'PPP1R3E', 'score': 20.32}, {'connected_gene': 'BCL2L2', 'score': 18.83}, {'connected_gene': 'C14orf93', 'score': 16.45}, {'connected_gene': 'ENSG00000258458', 'score': 14.83}, {'connected_gene': 'AJUBA', 'score': 12.9}, {'connected_gene': 'JPH4', 'score': 12.72}, {'connected_gene': 'MMP14', 'score': 11.49}, {'connected_gene': 'H3F3AP2', 'score': 10.75}, {'connected_gene': 'CDH24', 'score': 10.5}, {'connected_gene': 'PRMT5-AS1', 'score': 10.25}, {'connected_gene': 'EFS', 'score': 10.1}, {'connected_gene': 'BCL2L2-PABPN1', 'score': 10.03}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.0}, {'connected_gene': 'ENSG00000258457', 'score': 9.9}]
chr14	GH14I023363	23363581	23368076	1.57	[{'connected_gene': 'EFS', 'score': 558.23}, {'connected_gene': 'DHRS1', 'score': 4.55}, {'connected_gene': 'IL25', 'score': 0.44}]
chr14	GH14I023361	23361472	23361621	0.2	[{'connected_gene': 'EFS', 'score': 0.77}, {'connected_gene': 'ENSG00000259018', 'score': 0.44}]
chr14	GH14I023305	23305059	23309507	2.07	[{'connected_gene': 'BCL2L2-PABPN1', 'score': 550.77}, {'connected_gene': 'BCL2L2', 'score': 550.44}, {'connected_gene': 'SLC22A17', 'score': 10.54}, {'connected_gene': 'EFS', 'score': 10.1}, {'connected_gene': 'MYH6', 'score': 9.9}, {'connected_gene': 'HOMEZ', 'score': 5.34}, {'connected_gene': 'RNA5SP383', 'score': 4.75}, {'connected_gene': 'PIR33428', 'score': 0.77}]