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
ENST00000371362	[[54474411, 54474803], [54475954, 54476083], [54483048, 54483100], [54483764, 54483845]]	[[54474654, 54474803], [54475954, 54476083], [54483048, 54483100], [54483764, 54483785]]
ENST00000371360	[[54474505, 54474803], [54475954, 54476083], [54477815, 54477953], [54479908, 54480037], [54483048, 54483100], [54483764, 54483803]]	[[54474654, 54474803], [54475954, 54476083], [54477815, 54477953], [54479908, 54480037], [54483048, 54483100], [54483764, 54483785]]
ENST00000545928	[[54474568, 54474803], [54475954, 54476083], [54477815, 54477953], [54483048, 54483100], [54483764, 54483803]]	[[54474654, 54474803], [54475954, 54476083], [54477815, 54477953], [54483048, 54483100], [54483764, 54483785]]
ENST00000420619	[[54474616, 54474803], [54475954, 54476083], [54477815, 54477953], [54483764, 54483856]]	[[54474654, 54474803], [54475954, 54476083], [54477815, 54477953], [54483764, 54483849]]
NM_001010978	[[54472970, 54474803], [54475954, 54476083], [54477815, 54477953], [54479908, 54480037], [54483048, 54483100], [54483764, 54483859]]	[[54474654, 54474803], [54475954, 54476083], [54477815, 54477953], [54479908, 54480037], [54483048, 54483100], [54483764, 54483785]]
NM_001276393	[[54472970, 54474803], [54475954, 54476083], [54477815, 54477953], [54483048, 54483100], [54483764, 54483859]]	[[54474654, 54474803], [54475954, 54476083], [54477815, 54477953], [54483048, 54483100], [54483764, 54483785]]
NM_001276395	[[54472970, 54474803], [54475954, 54476083], [54477815, 54477922], [54483048, 54483100], [54483764, 54483859]]	[[54475960, 54476083], [54477815, 54477922], [54483048, 54483100], [54483764, 54483785]]
NM_001276394	[[54472970, 54474803], [54475954, 54476083], [54483048, 54483100], [54483764, 54483859]]	[[54474654, 54474803], [54475954, 54476083], [54483048, 54483100], [54483764, 54483785]]
NM_001276392	[[54472970, 54474803], [54475954, 54476083], [54477815, 54477953], [54483764, 54483859]]	[[54474654, 54474803], [54475954, 54476083], [54477815, 54477953], [54483764, 54483849]]

Promoter

Chrom	Start	End	Description
chr1	54483804	54483836	CAGE_peak_1_at_LDLRAD1_5end
chr1	54483842	54483864	CAGE_peak_2_at_LDLRAD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I053918	53918492	53919545	0.75	[{'connected_gene': 'HSPB11', 'score': 22.51}, {'connected_gene': 'LRRC42', 'score': 12.45}, {'connected_gene': 'DIO1', 'score': 12.38}, {'connected_gene': 'YIPF1', 'score': 12.38}, {'connected_gene': 'RPL37P7', 'score': 10.71}, {'connected_gene': 'NDC1', 'score': 10.71}, {'connected_gene': 'LDLRAD1', 'score': 10.02}, {'connected_gene': 'RNU7-95P', 'score': 8.74}, {'connected_gene': 'GC01P053910', 'score': 0.44}, {'connected_gene': 'GC01P053939', 'score': 0.34}]
chr1	GH01I054015	54015890	54017328	0.93	[{'connected_gene': 'LDLRAD1', 'score': 556.43}, {'connected_gene': 'GC01P054015', 'score': 550.77}, {'connected_gene': 'TCEANC2', 'score': 10.06}]
chr1	GH01I054017	54017884	54018368	1.04	[{'connected_gene': 'LDLRAD1', 'score': 561.14}, {'connected_gene': 'TCEANC2', 'score': 10.35}, {'connected_gene': 'GC01P054015', 'score': 0.77}]
chr1	GH01I054047	54047201	54047400	0.64	[{'connected_gene': 'LDLRAD1', 'score': 11.19}, {'connected_gene': 'LRRC42', 'score': 10.26}, {'connected_gene': 'HSPB11', 'score': 10.26}, {'connected_gene': 'TMEM59', 'score': 0.44}, {'connected_gene': 'ENSG00000280378', 'score': 0.39}]
chr1	GH01I054081	54081600	54081897	1.05	[{'connected_gene': 'TCEANC2', 'score': 39.63}, {'connected_gene': 'TMEM59', 'score': 11.88}, {'connected_gene': 'CDCP2', 'score': 11.15}, {'connected_gene': 'LDLRAD1', 'score': 10.25}, {'connected_gene': 'LRRC42', 'score': 9.75}, {'connected_gene': 'HSPB11', 'score': 9.75}, {'connected_gene': 'SSBP3-AS1', 'score': 9.64}, {'connected_gene': 'GC01P054077', 'score': 0.77}, {'connected_gene': 'LOC100507586', 'score': 0.44}]
chr1	GH01I054093	54093833	54097379	0.87	[{'connected_gene': 'TCEANC2', 'score': 46.19}, {'connected_gene': 'LDLRAD1', 'score': 14.75}, {'connected_gene': 'TMEM59', 'score': 11.27}, {'connected_gene': 'CDCP2', 'score': 11.1}, {'connected_gene': 'SSBP3-AS1', 'score': 10.13}, {'connected_gene': 'MRPL37', 'score': 4.77}, {'connected_gene': 'ENSG00000279049', 'score': 0.77}, {'connected_gene': 'GC01P054090', 'score': 0.44}]
chr1	GH01I053981	53981801	53983417	1.06	[{'connected_gene': 'TCEANC2', 'score': 18.24}, {'connected_gene': 'LRRC42', 'score': 11.76}, {'connected_gene': 'HSPB11', 'score': 11.76}, {'connected_gene': 'LDLRAD1', 'score': 11.7}, {'connected_gene': 'DIO1', 'score': 11.06}, {'connected_gene': 'YIPF1', 'score': 11.06}, {'connected_gene': 'TMEM59', 'score': 10.5}, {'connected_gene': 'HNRNPA3P12', 'score': 0.44}, {'connected_gene': 'GC01P054015', 'score': 0.29}]
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	GH01I053910	53910048	53910197	0.69	[{'connected_gene': 'GC01P053910', 'score': 550.77}, {'connected_gene': 'YIPF1', 'score': 13.23}, {'connected_gene': 'LRRC42', 'score': 11.67}, {'connected_gene': 'HSPB11', 'score': 11.67}, {'connected_gene': 'RPL37P7', 'score': 10.95}, {'connected_gene': 'NDC1', 'score': 10.94}, {'connected_gene': 'LDLRAD1', 'score': 10.3}, {'connected_gene': 'TCEANC2', 'score': 9.84}, {'connected_gene': 'TMEM59', 'score': 9.84}, {'connected_gene': 'RNU7-95P', 'score': 8.6}, {'connected_gene': 'DIO1', 'score': 0.37}]
chr1	GH01I054856	54856102	54863609	1.37	[{'connected_gene': 'ENSG00000233203', 'score': 21.3}, {'connected_gene': 'DHCR24', 'score': 19.24}, {'connected_gene': 'LEXM', 'score': 18.32}, {'connected_gene': 'ENSG00000242396', 'score': 11.78}, {'connected_gene': 'TTC22', 'score': 10.08}, {'connected_gene': 'ENSG00000237453', 'score': 9.99}, {'connected_gene': 'LDLRAD1', 'score': 9.33}, {'connected_gene': 'TCEANC2', 'score': 8.86}, {'connected_gene': 'TMEM59', 'score': 8.86}, {'connected_gene': 'TMEM61', 'score': 5.9}, {'connected_gene': 'GC01P054854', 'score': 0.44}, {'connected_gene': 'PIR36544', 'score': 0.37}]
chr1	GH01I053971	53971471	53972549	0.2	[{'connected_gene': 'GC01M053970', 'score': 550.77}, {'connected_gene': 'LRRC42', 'score': 12.8}, {'connected_gene': 'HSPB11', 'score': 12.8}, {'connected_gene': 'LDLRAD1', 'score': 11.83}, {'connected_gene': 'NDC1', 'score': 11.06}, {'connected_gene': 'RPL37P7', 'score': 11.06}, {'connected_gene': 'DIO1', 'score': 11.01}, {'connected_gene': 'YIPF1', 'score': 11.01}, {'connected_gene': 'TCEANC2', 'score': 8.59}, {'connected_gene': 'HNRNPA3P12', 'score': 0.77}]