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
ENST00000294360	[[53679770, 53680408], [53681662, 53681728], [53682453, 53682531], [53683843, 53683875], [53684085, 53684167], [53684538, 53684595], [53685932, 53686016], [53686241, 53686289]]	[[53680330, 53680408], [53681662, 53681728], [53682453, 53682531], [53683843, 53683875], [53684085, 53684167], [53684538, 53684595], [53685932, 53686016], [53686241, 53686247]]
ENST00000483739	[[53679808, 53680408], [53681662, 53681728], [53682453, 53682531], [53683843, 53683875], [53684085, 53684167], [53684538, 53685592]]	None
ENST00000470385	[[53680046, 53680408], [53681662, 53681728], [53682453, 53682531], [53683843, 53683875], [53684085, 53684167], [53684538, 53684595], [53685932, 53686264]]	None
ENST00000478839	[[53680145, 53680408], [53681662, 53681728], [53682453, 53684032]]	None
ENST00000489755	[[53682457, 53682531], [53683843, 53683875], [53684085, 53684699]]	None
ENST00000474227	[[53685206, 53686016], [53686241, 53686272]]	None
ENST00000602807	[[53685758, 53686248]]	None
NM_017887	[[53679770, 53680408], [53681662, 53681728], [53682453, 53682531], [53683843, 53683875], [53684085, 53684167], [53684538, 53684595], [53685932, 53686016], [53686241, 53686311]]	[[53680330, 53680408], [53681662, 53681728], [53682453, 53682531], [53683843, 53683875], [53684085, 53684167], [53684538, 53684595], [53685932, 53686016], [53686241, 53686247]]
NM_001304759	[[53679770, 53680408], [53681662, 53681728], [53682453, 53682531], [53683843, 53683875], [53684085, 53684167], [53685932, 53686016], [53686241, 53686311]]	[[53680330, 53680408], [53681662, 53681728], [53682453, 53682531], [53683843, 53683875], [53684085, 53684167], [53685932, 53686016], [53686241, 53686247]]
NM_001304760	[[53679770, 53680408], [53681662, 53681728], [53682453, 53682531], [53683843, 53683875], [53684085, 53684167], [53686241, 53686311]]	[[53680330, 53680408], [53681662, 53681728], [53682453, 53682531], [53683843, 53683875], [53684085, 53684167], [53686241, 53686247]]
NR_130897	[[53685472, 53686016], [53686241, 53686311]]	None

Promoter

Chrom	Start	End	Description
chr1	53686002	53686044	CAGE_peak_2_at_C1orf123_5end
chr1	53686261	53686329	CAGE_peak_1_at_C1orf123_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I053324	53324026	53328642	2.25	[{'connected_gene': 'LRP8', 'score': 556.28}, {'connected_gene': 'LINC01771', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 23.78}, {'connected_gene': 'PRPF38A', 'score': 11.76}, {'connected_gene': 'RPS13P2', 'score': 11.24}, {'connected_gene': 'LRRC42', 'score': 10.9}, {'connected_gene': 'SSBP3-AS1', 'score': 10.84}, {'connected_gene': 'GPX7', 'score': 10.45}, {'connected_gene': 'C1orf123', 'score': 4.86}, {'connected_gene': 'GC01M053305', 'score': 0.37}]
chr1	GH01I053835	53835064	53839200	2.12	[{'connected_gene': 'NDC1', 'score': 563.15}, {'connected_gene': 'MAGOH', 'score': 45.35}, {'connected_gene': 'SSBP3-AS1', 'score': 36.53}, {'connected_gene': 'HSPB11', 'score': 33.21}, {'connected_gene': 'LRRC42', 'score': 21.47}, {'connected_gene': 'ECHDC2', 'score': 18.27}, {'connected_gene': 'ENSG00000256407', 'score': 12.79}, {'connected_gene': 'CYB5RL', 'score': 12.55}, {'connected_gene': 'C1orf123', 'score': 10.3}, {'connected_gene': 'ENSG00000279049', 'score': 9.9}, {'connected_gene': 'ENSG00000230953', 'score': 9.82}, {'connected_gene': 'TTC4', 'score': 9.72}, {'connected_gene': 'TMEM59', 'score': 9.67}, {'connected_gene': 'TCEANC2', 'score': 9.67}, {'connected_gene': 'ENSG00000237453', 'score': 9.09}, {'connected_gene': 'TTC22', 'score': 9.09}, {'connected_gene': 'YIPF1', 'score': 6.06}, {'connected_gene': 'LRP8', 'score': 4.73}, {'connected_gene': 'ENSG00000201003', 'score': 0.2}, {'connected_gene': 'GC01M053772', 'score': 0.2}]
chr1	GH01I053218	53218964	53221528	2.09	[{'connected_gene': 'C1orf123', 'score': 582.32}, {'connected_gene': 'GC01M053219', 'score': 550.77}, {'connected_gene': 'PIR31553', 'score': 550.77}, {'connected_gene': 'ENSG00000259818', 'score': 550.77}, {'connected_gene': 'PRPF38A', 'score': 13.99}, {'connected_gene': 'ENSG00000236723', 'score': 0.44}]
chr1	GH01I053249	53249026	53250617	0.46	[{'connected_gene': 'C1orf123', 'score': 11.28}, {'connected_gene': 'LRP8', 'score': 10.85}, {'connected_gene': 'LINC01771', 'score': 10.27}, {'connected_gene': 'CPT2', 'score': 9.88}, {'connected_gene': 'LOC105378728', 'score': 0.44}, {'connected_gene': 'GC01M053244', 'score': 0.44}]
chr1	GH01I053321	53321009	53322288	0.49	[{'connected_gene': 'C1orf123', 'score': 4.93}, {'connected_gene': 'LRP8', 'score': 0.44}, {'connected_gene': 'GC01M053305', 'score': 0.39}]
chr1	GH01I053175	53175837	53177703	0.84	[{'connected_gene': 'C1orf123', 'score': 11.54}, {'connected_gene': 'ENSG00000236723', 'score': 10.66}, {'connected_gene': 'MAGOH', 'score': 10.5}, {'connected_gene': 'LOC100507564', 'score': 10.5}, {'connected_gene': 'ENSG00000235563', 'score': 4.54}, {'connected_gene': 'LOC105378724', 'score': 0.77}, {'connected_gene': 'SLC1A7', 'score': 0.29}]
chr1	GH01I053245	53245971	53247414	0.54	[{'connected_gene': 'C1orf123', 'score': 35.36}, {'connected_gene': 'CPT2', 'score': 10.56}, {'connected_gene': 'ENSG00000232762', 'score': 9.86}, {'connected_gene': 'GC01M053244', 'score': 0.77}, {'connected_gene': 'LOC105378728', 'score': 0.44}, {'connected_gene': 'LRP8', 'score': 0.18}]
chr1	GH01I053172	53172569	53173288	1.07	[{'connected_gene': 'C1orf123', 'score': 9.56}, {'connected_gene': 'LOC105378724', 'score': 0.44}, {'connected_gene': 'SLC1A7', 'score': 0.29}]
chr1	GH01I053237	53237598	53239598	2.32	[{'connected_gene': 'MAGOH', 'score': 574.79}, {'connected_gene': 'LOC100507564', 'score': 550.77}, {'connected_gene': 'C1orf123', 'score': 28.65}, {'connected_gene': 'NDC1', 'score': 22.26}, {'connected_gene': 'CYB5RL', 'score': 21.53}, {'connected_gene': 'ZCCHC11', 'score': 20.71}, {'connected_gene': 'ENSG00000230953', 'score': 20.41}, {'connected_gene': 'SSBP3-AS1', 'score': 13.69}, {'connected_gene': 'ENSG00000236723', 'score': 11.51}, {'connected_gene': 'LRP8', 'score': 10.66}, {'connected_gene': 'LINC01771', 'score': 10.66}, {'connected_gene': 'LRRC42', 'score': 10.02}, {'connected_gene': 'ECHDC2', 'score': 9.95}, {'connected_gene': 'ENSG00000256407', 'score': 9.8}, {'connected_gene': 'PIR31553', 'score': 0.37}]
chr1	GH01I052550	52550115	52555682	2.3	[{'connected_gene': 'ZCCHC11', 'score': 583.32}, {'connected_gene': 'ENSG00000272371', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 26.88}, {'connected_gene': 'ENSG00000266993', 'score': 24.82}, {'connected_gene': 'CC2D1B', 'score': 21.8}, {'connected_gene': 'RPS13P2', 'score': 20.53}, {'connected_gene': 'ENSG00000230953', 'score': 19.93}, {'connected_gene': 'GPX7', 'score': 19.81}, {'connected_gene': 'C1orf123', 'score': 10.3}, {'connected_gene': 'PRPF38A', 'score': 9.85}, {'connected_gene': 'SHISAL2A', 'score': 2.5}, {'connected_gene': 'ZYG11B', 'score': 2.15}, {'connected_gene': 'BTF3L4', 'score': 1.41}, {'connected_gene': 'GC01P052555', 'score': 0.77}, {'connected_gene': 'LOC105378723', 'score': 0.34}]
chr1	GH01I053195	53195433	53199061	2.03	[{'connected_gene': 'CPT2', 'score': 556.33}, {'connected_gene': 'C1orf123', 'score': 31.95}, {'connected_gene': 'MAGOH', 'score': 12.39}, {'connected_gene': 'PIR34935', 'score': 0.37}]
chr1	GH01I054051	54051327	54054981	2.12	[{'connected_gene': 'TCEANC2', 'score': 579.34}, {'connected_gene': 'MIR4781', 'score': 550.77}, {'connected_gene': 'TMEM59', 'score': 550.77}, {'connected_gene': 'MAGOH', 'score': 67.4}, {'connected_gene': 'NDC1', 'score': 49.19}, {'connected_gene': 'SSBP3-AS1', 'score': 43.88}, {'connected_gene': 'HSPB11', 'score': 33.76}, {'connected_gene': 'LRRC42', 'score': 29.83}, {'connected_gene': 'PARS2', 'score': 19.95}, {'connected_gene': 'CYB5RL', 'score': 19.87}, {'connected_gene': 'ENSG00000256407', 'score': 12.85}, {'connected_gene': 'ENSG00000279049', 'score': 11.42}, {'connected_gene': 'C1orf123', 'score': 11.16}, {'connected_gene': 'LDLRAD1', 'score': 10.5}, {'connected_gene': 'PODN', 'score': 10.39}, {'connected_gene': 'RPL37P7', 'score': 9.71}, {'connected_gene': 'ENSG00000280378', 'score': 0.37}]
chr1	GH01I053179	53179498	53180880	0.43	[{'connected_gene': 'LOC105378724', 'score': 550.77}, {'connected_gene': 'ENSG00000277397', 'score': 550.77}, {'connected_gene': 'ENSG00000236723', 'score': 10.67}, {'connected_gene': 'MAGOH', 'score': 10.51}, {'connected_gene': 'LOC100507564', 'score': 10.51}, {'connected_gene': 'C1orf123', 'score': 8.95}, {'connected_gene': 'SLC1A7', 'score': 0.28}]
chr1	GH01I053291	53291794	53295452	0.93	[{'connected_gene': 'ENSG00000225030', 'score': 550.77}, {'connected_gene': 'LRP8', 'score': 28.68}, {'connected_gene': 'LINC01771', 'score': 12.01}, {'connected_gene': 'C1orf123', 'score': 11.43}, {'connected_gene': 'TCEANC2', 'score': 6.46}, {'connected_gene': 'GC01P053298', 'score': 0.77}, {'connected_gene': 'GC01P053291', 'score': 0.77}, {'connected_gene': 'LOC105378726', 'score': 0.77}]
chr1	GH01I053295	53295801	53296400	0.67	[{'connected_gene': 'GC01P053298', 'score': 550.77}, {'connected_gene': 'LRP8', 'score': 12.09}, {'connected_gene': 'LOC105378728', 'score': 12.05}, {'connected_gene': 'LINC01771', 'score': 11.38}, {'connected_gene': 'C1orf123', 'score': 9.34}, {'connected_gene': 'ENSG00000225030', 'score': 0.77}, {'connected_gene': 'LOC105378726', 'score': 0.44}]
chr1	GH01I053213	53213918	53215658	0.2	[{'connected_gene': 'ENSG00000236723', 'score': 550.77}, {'connected_gene': 'PIR34935', 'score': 550.77}, {'connected_gene': 'C1orf123', 'score': 32.0}, {'connected_gene': 'GC01M053219', 'score': 0.44}, {'connected_gene': 'CPT2', 'score': 0.37}]
chr1	GH01I053176	53175609	53175758	0.54	[{'connected_gene': 'ENSG00000236723', 'score': 10.66}, {'connected_gene': 'MAGOH', 'score': 10.5}, {'connected_gene': 'LOC100507564', 'score': 10.5}, {'connected_gene': 'C1orf123', 'score': 8.84}, {'connected_gene': 'LOC105378724', 'score': 0.77}, {'connected_gene': 'SLC1A7', 'score': 0.29}]
chr1	GH01I053181	53181666	53185176	1.21	[{'connected_gene': 'ENSG00000236723', 'score': 11.08}, {'connected_gene': 'MAGOH', 'score': 10.51}, {'connected_gene': 'LOC100507564', 'score': 10.51}, {'connected_gene': 'C1orf123', 'score': 10.34}, {'connected_gene': 'ENSG00000235563', 'score': 6.04}, {'connected_gene': 'ENSG00000277397', 'score': 0.77}, {'connected_gene': 'CPT2P1', 'score': 0.77}, {'connected_gene': 'LOC105378724', 'score': 0.77}]