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
NR_135630	[[34181949, 34182414], [34182667, 34182754], [34183176, 34183228], [34183735, 34183809], [34185203, 34185323], [34185436, 34185529], [34185891, 34186074], [34189954, 34190129], [34190505, 34190563], [34191249, 34191306], [34191500, 34191557], [34191761, 34191894], [34192218, 34192400], [34193727, 34193777], [34195658, 34195895]]	None
NM_152781	[[34181949, 34182414], [34182667, 34182754], [34183176, 34183228], [34183735, 34183809], [34185203, 34185323], [34185436, 34185529], [34185891, 34186074], [34189998, 34190129], [34190505, 34190563], [34191249, 34191306], [34191500, 34191557], [34191761, 34191894], [34192218, 34192400], [34193727, 34193777], [34195658, 34195895]]	[[34182066, 34182414], [34182667, 34182754], [34183176, 34183228], [34183735, 34183809], [34185203, 34185323], [34185436, 34185529], [34185891, 34186074], [34189998, 34190129], [34190505, 34190563], [34191249, 34191306], [34191500, 34191557], [34191761, 34191894], [34192218, 34192400], [34193727, 34193777], [34195658, 34195746]]
NM_001321395	[[34181949, 34182414], [34182667, 34182754], [34183176, 34183228], [34183735, 34183809], [34185203, 34185323], [34185436, 34185529], [34185891, 34186074], [34189998, 34190129], [34190505, 34190563], [34191249, 34191306], [34191500, 34191557], [34191881, 34191894], [34192218, 34192400], [34193727, 34193777], [34195658, 34195895]]	[[34182066, 34182414], [34182667, 34182754], [34183176, 34183228], [34183735, 34183809], [34185203, 34185323], [34185436, 34185529], [34185891, 34186074], [34189998, 34190129], [34190505, 34190563], [34191249, 34191306], [34191500, 34191557], [34191881, 34191894], [34192218, 34192400], [34193727, 34193777], [34195658, 34195746]]

Promoter

Chrom	Start	End	Description
chr17	34195851	34195856	CAGE_peak_3_at_C17orf66_5end
chr17	34195862	34195877	CAGE_peak_1_at_C17orf66_5end
chr17	34195878	34195883	CAGE_peak_4_at_C17orf66_5end
chr17	34195889	34195899	CAGE_peak_2_at_C17orf66_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I035875	35875239	35877442	1.18	[{'connected_gene': 'TAF15', 'score': 11.63}, {'connected_gene': 'ENSG00000267744', 'score': 5.47}, {'connected_gene': 'CCL14', 'score': 5.37}, {'connected_gene': 'HEATR9', 'score': 4.9}, {'connected_gene': 'CCL5', 'score': 0.77}, {'connected_gene': 'ENSG00000270240', 'score': 0.44}, {'connected_gene': 'LOC105371744', 'score': 0.44}]
chr17	GH17I035871	35871495	35871878	0.4	[{'connected_gene': 'HEATR9', 'score': 6.4}, {'connected_gene': 'ENSG00000270240', 'score': 0.77}, {'connected_gene': 'LOC105371744', 'score': 0.77}, {'connected_gene': 'CCL5', 'score': 0.44}]
chr17	GH17I035867	35866697	35866846	0.62	[{'connected_gene': 'HEATR9', 'score': 0.77}, {'connected_gene': 'GC17P035863', 'score': 0.77}]
chr17	GH17I035868	35866457	35866606	0.66	[{'connected_gene': 'HEATR9', 'score': 0.77}, {'connected_gene': 'GC17P035863', 'score': 0.77}]
chr17	GH17I035866	35866117	35866400	0.83	[{'connected_gene': 'GAS2L2', 'score': 11.5}, {'connected_gene': 'HEATR9', 'score': 0.77}, {'connected_gene': 'GC17P035863', 'score': 0.77}]
chr17	GH17I035895	35895253	35903351	1.44	[{'connected_gene': 'C17orf50', 'score': 14.23}, {'connected_gene': 'CCL5', 'score': 12.85}, {'connected_gene': 'GAS2L2', 'score': 11.51}, {'connected_gene': 'TAF15', 'score': 8.64}, {'connected_gene': 'HEATR9', 'score': 5.55}, {'connected_gene': 'SLFN12L', 'score': 5.51}, {'connected_gene': 'SLFN14', 'score': 2.65}, {'connected_gene': 'GC17M035888', 'score': 0.44}, {'connected_gene': 'GC17M035909', 'score': 0.44}, {'connected_gene': 'PIR57610', 'score': 0.44}, {'connected_gene': 'LRRC37A8P', 'score': 0.39}]
chr17	GH17I035804	35804377	35805310	1.11	[{'connected_gene': 'C17orf50', 'score': 5.45}, {'connected_gene': 'HEATR9', 'score': 4.95}, {'connected_gene': 'ENSG00000270829', 'score': 0.77}, {'connected_gene': 'GC17P035798', 'score': 0.44}, {'connected_gene': 'GC17P035797', 'score': 0.44}, {'connected_gene': 'PIR58663', 'score': 0.44}, {'connected_gene': 'TAF15', 'score': 0.16}]
chr17	GH17I035783	35783027	35789942	1.24	[{'connected_gene': 'C17orf50', 'score': 23.64}, {'connected_gene': 'GAS2L2', 'score': 11.69}, {'connected_gene': 'TAF15', 'score': 11.4}, {'connected_gene': 'RASL10B', 'score': 10.79}, {'connected_gene': 'MMP28', 'score': 9.16}, {'connected_gene': 'RDM1', 'score': 5.48}, {'connected_gene': 'HEATR9', 'score': 4.85}, {'connected_gene': 'GC17P035762', 'score': 0.34}]
chr17	GH17I035807	35807390	35811315	2.08	[{'connected_gene': 'ENSG00000270829', 'score': 550.77}, {'connected_gene': 'TAF15', 'score': 550.15}, {'connected_gene': 'C17orf50', 'score': 14.74}, {'connected_gene': 'GAS2L2', 'score': 11.58}, {'connected_gene': 'LIG3', 'score': 11.45}, {'connected_gene': 'MMP28', 'score': 9.05}, {'connected_gene': 'HEATR9', 'score': 6.22}, {'connected_gene': 'RDM1', 'score': 5.53}, {'connected_gene': 'AP2B1', 'score': 4.6}, {'connected_gene': 'ENSG00000270894', 'score': 0.44}]
chr17	GH17I035888	35888487	35894010	1.47	[{'connected_gene': 'ENSG00000271394', 'score': 550.77}, {'connected_gene': 'GC17M035888', 'score': 550.77}, {'connected_gene': 'CCL3', 'score': 22.25}, {'connected_gene': 'CCL4', 'score': 20.3}, {'connected_gene': 'CCL3L3', 'score': 18.82}, {'connected_gene': 'TAF15', 'score': 11.89}, {'connected_gene': 'GAS2L2', 'score': 11.52}, {'connected_gene': 'C17orf50', 'score': 9.27}, {'connected_gene': 'HEATR9', 'score': 5.59}, {'connected_gene': 'CCL5', 'score': 3.8}, {'connected_gene': 'SLFN12L', 'score': 2.39}, {'connected_gene': 'LYZL6', 'score': 2.17}, {'connected_gene': 'CCL23', 'score': 1.52}, {'connected_gene': 'GC17M035909', 'score': 0.37}, {'connected_gene': 'PIR57610', 'score': 0.37}, {'connected_gene': 'LRRC37A8P', 'score': 0.37}]
chr17	GH17I036072	36072621	36073006	1.22	[{'connected_gene': 'ENSG00000277089', 'score': 550.77}, {'connected_gene': 'HEATR9', 'score': 9.47}, {'connected_gene': 'LYZL6', 'score': 8.26}, {'connected_gene': 'C17orf50', 'score': 8.19}, {'connected_gene': 'CCL5', 'score': 3.99}, {'connected_gene': 'MYO19', 'score': 1.31}, {'connected_gene': 'RDM1', 'score': 1.24}, {'connected_gene': 'CCL18', 'score': 0.44}]
chr17	GH17I035817	35817377	35817526	0.43	[{'connected_gene': 'ENSG00000270894', 'score': 550.77}, {'connected_gene': 'C17orf50', 'score': 11.57}, {'connected_gene': 'MMP28', 'score': 11.35}, {'connected_gene': 'HEATR9', 'score': 4.73}, {'connected_gene': 'ENSG00000270829', 'score': 0.44}, {'connected_gene': 'ENSG00000270871', 'score': 0.39}, {'connected_gene': 'GC17M035815', 'score': 0.37}, {'connected_gene': 'TAF15', 'score': 0.15}]
chr17	GH17I035869	35868853	35868912	0.5	[{'connected_gene': 'ENSG00000270240', 'score': 550.77}, {'connected_gene': 'LOC105371744', 'score': 550.77}, {'connected_gene': 'HEATR9', 'score': 550.77}, {'connected_gene': 'GC17P035863', 'score': 0.77}]
chr17	GH17I035913	35913808	35916493	0.72	[{'connected_gene': 'GC17M036104', 'score': 550.77}, {'connected_gene': 'PIR35668', 'score': 550.77}, {'connected_gene': 'LOC100133244', 'score': 550.77}, {'connected_gene': 'GC17M035998', 'score': 550.77}, {'connected_gene': 'GC17M036091', 'score': 550.77}, {'connected_gene': 'PIR33389', 'score': 550.77}, {'connected_gene': 'GC17M036089', 'score': 550.77}, {'connected_gene': 'GC17M036095', 'score': 550.77}, {'connected_gene': 'PIR61102', 'score': 550.77}, {'connected_gene': 'PIR48977', 'score': 550.77}, {'connected_gene': 'PIR33779', 'score': 550.77}, {'connected_gene': 'GC17M036100', 'score': 550.77}, {'connected_gene': 'TAF15', 'score': 9.81}, {'connected_gene': 'C17orf50', 'score': 7.34}, {'connected_gene': 'HEATR9', 'score': 6.67}, {'connected_gene': 'LRRC37A9P', 'score': 0.77}]