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
ENST00000372396	[[44115828, 44115923], [44118807, 44118984], [44121261, 44121437], [44125968, 44126083], [44128564, 44128758], [44131366, 44131416], [44132122, 44132226], [44132624, 44132762], [44133442, 44133690], [44134770, 44134970], [44137175, 44137546], [44149354, 44149475], [44154584, 44154766], [44156515, 44156720], [44157166, 44157243], [44157926, 44157982], [44159664, 44159773], [44160379, 44160565], [44163513, 44163684], [44169287, 44169407], [44169690, 44169783], [44169900, 44171186]]	[[44118846, 44118984], [44121261, 44121437], [44125968, 44126083], [44128564, 44128758], [44131366, 44131416], [44132122, 44132226], [44132624, 44132762], [44133442, 44133690], [44134770, 44134970], [44137175, 44137546], [44149354, 44149475], [44154584, 44154766], [44156515, 44156720], [44157166, 44157243], [44157926, 44157982], [44159664, 44159773], [44160379, 44160565], [44163513, 44163684], [44169287, 44169407], [44169690, 44169783], [44169900, 44170041]]
ENST00000463151	[[44116206, 44116345], [44118807, 44118984], [44121261, 44121437], [44125968, 44126083], [44128564, 44128758], [44131366, 44131416], [44132122, 44132226], [44132624, 44132692]]	None
ENST00000485249	[[44118976, 44118984], [44119333, 44119470], [44121261, 44121437], [44125968, 44126083], [44128564, 44128758], [44131366, 44131416], [44132122, 44132226], [44132624, 44132692]]	None
ENST00000472265	[[44131955, 44132226], [44132624, 44132733]]	None
ENST00000481296	[[44156260, 44156720], [44157166, 44157243], [44157926, 44157949]]	None
NM_014663	[[44115796, 44115923], [44118807, 44118984], [44121261, 44121437], [44125968, 44126083], [44128564, 44128758], [44131366, 44131416], [44132122, 44132226], [44132624, 44132762], [44133442, 44133690], [44134770, 44134970], [44137175, 44137546], [44149354, 44149475], [44154584, 44154766], [44156515, 44156720], [44157166, 44157243], [44157926, 44157982], [44159664, 44159773], [44160379, 44160565], [44163513, 44163684], [44169287, 44169407], [44169690, 44169783], [44169900, 44171189]]	[[44118846, 44118984], [44121261, 44121437], [44125968, 44126083], [44128564, 44128758], [44131366, 44131416], [44132122, 44132226], [44132624, 44132762], [44133442, 44133690], [44134770, 44134970], [44137175, 44137546], [44149354, 44149475], [44154584, 44154766], [44156515, 44156720], [44157166, 44157243], [44157926, 44157982], [44159664, 44159773], [44160379, 44160565], [44163513, 44163684], [44169287, 44169407], [44169690, 44169783], [44169900, 44170041]]

Promoter

Chrom	Start	End	Description
chr1	44115773	44115783	CAGE_peak_6_at_KDM4A_5end
chr1	44115789	44115813	CAGE_peak_2_at_KDM4A_5end
chr1	44115814	44115849	CAGE_peak_1_at_KDM4A_5end
chr1	44115853	44115865	CAGE_peak_5_at_KDM4A_5end
chr1	44116137	44116167	CAGE_peak_4_at_KDM4A_5end
chr1	44116169	44116182	CAGE_peak_3_at_KDM4A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I043648	43648089	43652661	2.09	[{'connected_gene': 'KDM4A', 'score': 550.77}, {'connected_gene': 'DMAP1', 'score': 16.79}, {'connected_gene': 'SZT2', 'score': 12.94}, {'connected_gene': 'ZNF691', 'score': 11.61}, {'connected_gene': 'KDM4A-AS1', 'score': 11.36}, {'connected_gene': 'PPIH', 'score': 9.78}, {'connected_gene': 'MED8', 'score': 8.14}, {'connected_gene': 'ATP6V0B', 'score': 6.14}, {'connected_gene': 'ARTN', 'score': 5.75}, {'connected_gene': 'HYI', 'score': 4.64}, {'connected_gene': 'SVBP', 'score': 4.2}, {'connected_gene': 'PIR43352', 'score': 0.28}]
chr1	GH01I043660	43660510	43660699	0.49	[{'connected_gene': 'KDM4A', 'score': 0.39}, {'connected_gene': 'PIR43352', 'score': 0.31}]
chr1	GH01I043671	43671243	43672219	0.46	[{'connected_gene': 'ARTN', 'score': 12.42}, {'connected_gene': 'PIR43352', 'score': 0.37}, {'connected_gene': 'KDM4A', 'score': 0.34}]
chr1	GH01I043685	43685144	43685468	0.24	[{'connected_gene': 'ARTN', 'score': 12.06}, {'connected_gene': 'IPO13', 'score': 3.47}, {'connected_gene': 'SLC6A9', 'score': 2.71}, {'connected_gene': 'ST3GAL3', 'score': 1.66}, {'connected_gene': 'PIR43352', 'score': 0.77}, {'connected_gene': 'KDM4A', 'score': 0.28}]
chr1	GH01I043666	43666188	43667703	0.8	[{'connected_gene': 'ARTN', 'score': 22.72}, {'connected_gene': 'KDM4A-AS1', 'score': 17.03}, {'connected_gene': 'ST3GAL3', 'score': 12.48}, {'connected_gene': 'LOC101929592', 'score': 10.74}, {'connected_gene': 'IPO13', 'score': 10.61}, {'connected_gene': 'LOC101929609', 'score': 10.61}, {'connected_gene': 'PTPRF', 'score': 10.27}, {'connected_gene': 'SZT2', 'score': 9.97}, {'connected_gene': 'MED8', 'score': 4.59}, {'connected_gene': 'KDM4A', 'score': 0.37}, {'connected_gene': 'PIR43352', 'score': 0.34}]
chr1	GH01I042949	42949002	42964628	2.79	[{'connected_gene': 'SLC2A1', 'score': 567.66}, {'connected_gene': 'SLC2A1-AS1', 'score': 42.16}, {'connected_gene': 'SZT2', 'score': 20.73}, {'connected_gene': 'ARTN', 'score': 18.86}, {'connected_gene': 'PPIH', 'score': 13.28}, {'connected_gene': 'P3H1', 'score': 12.74}, {'connected_gene': 'MED8', 'score': 12.58}, {'connected_gene': 'RNU6-880P', 'score': 12.09}, {'connected_gene': 'ERMAP', 'score': 12.08}, {'connected_gene': 'LOC101929609', 'score': 12.05}, {'connected_gene': 'KDM4A-AS1', 'score': 11.14}, {'connected_gene': 'KDM4A', 'score': 10.02}, {'connected_gene': 'CLDN19', 'score': 3.67}, {'connected_gene': 'SVBP', 'score': 1.79}, {'connected_gene': 'ENSG00000284138', 'score': 0.77}, {'connected_gene': 'ENSG00000283973', 'score': 0.44}]
chr1	GH01I043522	43522358	43525710	1.7	[{'connected_gene': 'PTPRF', 'score': 552.21}, {'connected_gene': 'SZT2', 'score': 45.32}, {'connected_gene': 'P3H1', 'score': 33.21}, {'connected_gene': 'MED8', 'score': 29.3}, {'connected_gene': 'KDM4A', 'score': 19.89}, {'connected_gene': 'HYI', 'score': 14.6}, {'connected_gene': 'PPIH', 'score': 13.25}, {'connected_gene': 'ZNF691', 'score': 11.68}, {'connected_gene': 'KDM4A-AS1', 'score': 11.21}, {'connected_gene': 'DMAP1', 'score': 10.34}, {'connected_gene': 'GC01M043545', 'score': 0.34}]
chr1	GH01I044483	44483749	44486921	1.68	[{'connected_gene': 'DMAP1', 'score': 18.45}, {'connected_gene': 'RNF220', 'score': 15.43}, {'connected_gene': 'ZSWIM5', 'score': 14.36}, {'connected_gene': 'LOC101929609', 'score': 12.05}, {'connected_gene': 'RNU6-369P', 'score': 10.94}, {'connected_gene': 'ARTN', 'score': 10.87}, {'connected_gene': 'ERI3', 'score': 10.1}, {'connected_gene': 'KDM4A', 'score': 10.02}, {'connected_gene': 'MUTYH', 'score': 9.91}, {'connected_gene': 'PLK3', 'score': 5.57}, {'connected_gene': 'ATP6V0B', 'score': 4.18}, {'connected_gene': 'BTBD19', 'score': 3.61}, {'connected_gene': 'SLC6A9', 'score': 3.19}, {'connected_gene': 'TCTEX1D4', 'score': 2.55}, {'connected_gene': 'MIR5584', 'score': 0.21}]
chr1	GH01I044212	44212324	44214640	2.16	[{'connected_gene': 'DMAP1', 'score': 600.11}, {'connected_gene': 'SZT2', 'score': 141.54}, {'connected_gene': 'HYI', 'score': 42.78}, {'connected_gene': 'KDM4A-AS1', 'score': 40.77}, {'connected_gene': 'ARTN', 'score': 38.15}, {'connected_gene': 'LOC101929609', 'score': 30.01}, {'connected_gene': 'RPS8', 'score': 30.0}, {'connected_gene': 'HECTD3', 'score': 29.15}, {'connected_gene': 'PTCH2', 'score': 22.93}, {'connected_gene': 'KDM4A', 'score': 22.71}, {'connected_gene': 'MED8', 'score': 21.01}, {'connected_gene': 'CCDC24', 'score': 19.38}, {'connected_gene': 'KIF2C', 'score': 11.36}, {'connected_gene': 'RNF220', 'score': 10.23}, {'connected_gene': 'LOC105378687', 'score': 10.21}, {'connected_gene': 'ERI3', 'score': 9.66}, {'connected_gene': 'HYI-AS1', 'score': 9.65}, {'connected_gene': 'GC01P044238', 'score': 0.34}]
chr1	GH01I042680	42680504	42684556	2.08	[{'connected_gene': 'YBX1', 'score': 550.77}, {'connected_gene': 'SZT2', 'score': 59.39}, {'connected_gene': 'PPIH', 'score': 38.8}, {'connected_gene': 'P3H1', 'score': 25.2}, {'connected_gene': 'SVBP', 'score': 14.71}, {'connected_gene': 'MED8', 'score': 12.56}, {'connected_gene': 'ZNF691', 'score': 11.75}, {'connected_gene': 'FOXJ3', 'score': 11.56}, {'connected_gene': 'KDM4A', 'score': 11.5}, {'connected_gene': 'HYI', 'score': 10.5}, {'connected_gene': 'CLDN19', 'score': 4.12}, {'connected_gene': 'ENSG00000234917', 'score': 0.77}, {'connected_gene': 'GC01P042719', 'score': 0.28}]
chr1	GH01I043888	43888685	43888799	0.22	[{'connected_gene': 'SZT2', 'score': 2.89}, {'connected_gene': 'ST3GAL3', 'score': 2.53}, {'connected_gene': 'KDM4A', 'score': 1.83}, {'connected_gene': 'IPO13', 'score': 1.43}, {'connected_gene': 'GC01M043857', 'score': 0.31}, {'connected_gene': 'ARTN', 'score': 0.26}]
chr1	GH01I042923	42922802	42926703	1.5	[{'connected_gene': 'FOXJ3', 'score': 30.83}, {'connected_gene': 'HYI', 'score': 30.14}, {'connected_gene': 'SZT2', 'score': 23.22}, {'connected_gene': 'P3H1', 'score': 12.31}, {'connected_gene': 'RNU6-880P', 'score': 11.48}, {'connected_gene': 'CCDC30', 'score': 11.13}, {'connected_gene': 'ZNF691', 'score': 10.55}, {'connected_gene': 'ENSG00000228192', 'score': 10.55}, {'connected_gene': 'FAM183A', 'score': 10.02}, {'connected_gene': 'KDM4A', 'score': 9.98}, {'connected_gene': 'LOC105378683', 'score': 9.8}, {'connected_gene': 'HYI-AS1', 'score': 9.65}, {'connected_gene': 'ATP6V1E1P1', 'score': 0.34}, {'connected_gene': 'ENSG00000284138', 'score': 0.31}, {'connected_gene': 'SLC2A1', 'score': 0.29}]
chr1	GH01I042824	42824340	42826346	1.69	[{'connected_gene': 'ERMAP', 'score': 550.44}, {'connected_gene': 'ZNF691', 'score': 11.13}, {'connected_gene': 'ENSG00000228192', 'score': 11.13}, {'connected_gene': 'P3H1', 'score': 10.1}, {'connected_gene': 'C1orf50', 'score': 10.1}, {'connected_gene': 'KDM4A', 'score': 10.02}, {'connected_gene': 'SVBP', 'score': 9.52}, {'connected_gene': 'SZT2', 'score': 8.94}]
chr1	GH01I044047	44047212	44050740	1.38	[{'connected_gene': 'MED8', 'score': 14.14}, {'connected_gene': 'IPO13', 'score': 10.5}, {'connected_gene': 'LOC101929609', 'score': 10.5}, {'connected_gene': 'KDM4A', 'score': 10.49}, {'connected_gene': 'SZT2', 'score': 10.33}, {'connected_gene': 'RPS8', 'score': 10.31}, {'connected_gene': 'ARTN', 'score': 10.23}, {'connected_gene': 'HECTD3', 'score': 9.67}, {'connected_gene': 'ENSG00000230615', 'score': 7.91}, {'connected_gene': 'B4GALT2', 'score': 4.76}, {'connected_gene': 'KLF17', 'score': 0.44}, {'connected_gene': 'ENSG00000227163', 'score': 0.28}]
chr1	GH01I043404	43404870	43405948	0.91	[{'connected_gene': 'MED8', 'score': 49.82}, {'connected_gene': 'SZT2', 'score': 31.81}, {'connected_gene': 'PPIH', 'score': 22.47}, {'connected_gene': 'HYI', 'score': 16.23}, {'connected_gene': 'P3H1', 'score': 12.69}, {'connected_gene': 'ENSG00000229431', 'score': 11.52}, {'connected_gene': 'ELOVL1', 'score': 11.27}, {'connected_gene': 'CDC20', 'score': 11.24}, {'connected_gene': 'LOC105378687', 'score': 11.24}, {'connected_gene': 'KDM4A-AS1', 'score': 11.18}, {'connected_gene': 'SZT2-AS1', 'score': 11.05}, {'connected_gene': 'HYI-AS1', 'score': 11.03}, {'connected_gene': 'DMAP1', 'score': 10.34}, {'connected_gene': 'KDM4A', 'score': 10.07}, {'connected_gene': 'EBNA1BP2', 'score': 9.96}, {'connected_gene': 'CFAP57', 'score': 9.91}, {'connected_gene': 'GC01M043435', 'score': 0.29}]
chr1	GH01I043652	43652751	43654114	0.88	[{'connected_gene': 'MED8', 'score': 5.65}, {'connected_gene': 'KDM4A-AS1', 'score': 5.23}, {'connected_gene': 'KDM4A', 'score': 0.77}, {'connected_gene': 'PIR43352', 'score': 0.29}]
chr1	GH01I042657	42657175	42659553	2.09	[{'connected_gene': 'PPIH', 'score': 600.51}, {'connected_gene': 'SZT2', 'score': 44.57}, {'connected_gene': 'P3H1', 'score': 33.58}, {'connected_gene': 'KDM4A', 'score': 20.22}, {'connected_gene': 'MED8', 'score': 14.13}, {'connected_gene': 'SVBP', 'score': 13.74}, {'connected_gene': 'ZNF691', 'score': 11.74}, {'connected_gene': 'HYI', 'score': 10.5}, {'connected_gene': 'CCDC30', 'score': 7.86}, {'connected_gene': 'ENSG00000234917', 'score': 0.34}]
chr1	GH01I043799	43799517	43801406	0.93	[{'connected_gene': 'LOC101929592', 'score': 17.36}, {'connected_gene': 'ST3GAL3', 'score': 11.78}, {'connected_gene': 'KDM4A-AS1', 'score': 10.59}, {'connected_gene': 'ATP6V0B', 'score': 10.16}, {'connected_gene': 'ARTN', 'score': 7.2}, {'connected_gene': 'KDM4A', 'score': 6.53}, {'connected_gene': 'C1orf228', 'score': 4.51}, {'connected_gene': 'CDC20', 'score': 3.73}, {'connected_gene': 'MED8', 'score': 1.56}, {'connected_gene': 'SZT2', 'score': 1.48}, {'connected_gene': 'GC01P043830', 'score': 0.31}, {'connected_gene': 'ENSG00000233674', 'score': 0.22}]
chr1	GH01I043659	43659350	43660500	0.46	[{'connected_gene': 'LOC101929592', 'score': 9.91}, {'connected_gene': 'MED8', 'score': 7.5}, {'connected_gene': 'ATP6V0B', 'score': 5.99}, {'connected_gene': 'KDM4A', 'score': 0.44}, {'connected_gene': 'PIR43352', 'score': 0.31}]
chr1	GH01I043705	43705692	43709497	2.06	[{'connected_gene': 'KDM4A-AS1', 'score': 562.05}, {'connected_gene': 'ST3GAL3', 'score': 550.77}, {'connected_gene': 'SZT2', 'score': 63.34}, {'connected_gene': 'DMAP1', 'score': 31.48}, {'connected_gene': 'P3H1', 'score': 30.03}, {'connected_gene': 'KDM4A', 'score': 19.34}, {'connected_gene': 'HYI', 'score': 18.92}, {'connected_gene': 'MED8', 'score': 18.15}, {'connected_gene': 'ARTN', 'score': 17.61}, {'connected_gene': 'ZNF691', 'score': 12.15}, {'connected_gene': 'SZT2-AS1', 'score': 10.33}, {'connected_gene': 'LOC101929592', 'score': 8.56}, {'connected_gene': 'ATP6V0B', 'score': 5.98}, {'connected_gene': 'GC01M043702', 'score': 0.34}]
chr1	GH01I043687	43687189	43689852	0.52	[{'connected_gene': 'PIR43352', 'score': 550.77}, {'connected_gene': 'PIR60655', 'score': 550.77}, {'connected_gene': 'ARTN', 'score': 12.14}, {'connected_gene': 'LOC101929592', 'score': 6.66}, {'connected_gene': 'MED8', 'score': 5.83}, {'connected_gene': 'ATP6V0B', 'score': 5.82}, {'connected_gene': 'KDM4A', 'score': 0.28}]
chr1	GH01I044290	44290059	44291586	1.16	[{'connected_gene': 'GC01P044290', 'score': 550.77}, {'connected_gene': 'SZT2', 'score': 20.76}, {'connected_gene': 'KDM4A', 'score': 19.8}, {'connected_gene': 'RPS8', 'score': 12.95}, {'connected_gene': 'HECTD3', 'score': 12.04}, {'connected_gene': 'HYI', 'score': 10.5}, {'connected_gene': 'DMAP1', 'score': 10.49}, {'connected_gene': 'ERI3', 'score': 10.16}, {'connected_gene': 'GC01P044305', 'score': 0.39}]
chr1	GH01I044628	44628174	44634784	1.78	[{'connected_gene': 'PIR47647', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 32.63}, {'connected_gene': 'DMAP1', 'score': 30.7}, {'connected_gene': 'KDM4A', 'score': 23.28}, {'connected_gene': 'C1orf228', 'score': 18.2}, {'connected_gene': 'HECTD3', 'score': 17.93}, {'connected_gene': 'RPS8', 'score': 12.76}, {'connected_gene': 'MUTYH', 'score': 12.38}, {'connected_gene': 'CCDC17', 'score': 11.51}, {'connected_gene': 'ARTN', 'score': 10.78}, {'connected_gene': 'RNU5F-1', 'score': 10.63}, {'connected_gene': 'ERI3', 'score': 10.25}, {'connected_gene': 'NASP', 'score': 9.96}, {'connected_gene': 'KDM4A-AS1', 'score': 9.88}, {'connected_gene': 'RNF220', 'score': 9.57}, {'connected_gene': 'GC01P044661', 'score': 0.29}]