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
ENST00000373588	[[127243515, 127245284], [127253359, 127253507], [127255308, 127255428], [127262368, 127262994], [127265357, 127265499], [127265572, 127265689], [127269527, 127269709]]	[[127245036, 127245284], [127253359, 127253507], [127255308, 127255428], [127262368, 127262994], [127265357, 127265499], [127265572, 127265674]]
ENST00000373587	[[127245006, 127245284], [127253359, 127253507], [127255308, 127255428], [127262368, 127262551], [127263226, 127263265]]	[[127245036, 127245284], [127253359, 127253507], [127255308, 127255428], [127262368, 127262551], [127263226, 127263265]]
ENST00000455734	[[127262705, 127262994], [127265357, 127265499], [127265572, 127265689], [127269236, 127269514]]	[[127262705, 127262994], [127265357, 127265499], [127265572, 127265674]]
NM_004959	[[127243514, 127245284], [127253359, 127253507], [127255308, 127255428], [127262368, 127262994], [127265357, 127265499], [127265572, 127265689], [127269527, 127269699]]	[[127245036, 127245284], [127253359, 127253507], [127255308, 127255428], [127262368, 127262994], [127265357, 127265499], [127265572, 127265674]]

Promoter

Chrom	Start	End	Description
chr9	127263337	127263341	CAGE_peak_9_at_NR5A1_5end
chr9	127269434	127269438	CAGE_peak_8_at_NR5A1_5end
chr9	127269462	127269484	CAGE_peak_2_at_NR5A1_5end
chr9	127269488	127269495	CAGE_peak_5_at_NR5A1_5end
chr9	127269661	127269719	CAGE_peak_1_at_NR5A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I124724	124724367	124725895	0.8	[{'connected_gene': 'MIR181B2', 'score': 10.93}, {'connected_gene': 'MIR181A2', 'score': 10.93}, {'connected_gene': 'ENSG00000231149', 'score': 10.3}, {'connected_gene': 'NR5A1', 'score': 10.3}, {'connected_gene': 'GC09P124694', 'score': 0.29}, {'connected_gene': 'ENSG00000236643', 'score': 0.26}, {'connected_gene': 'NR6A1', 'score': 0.25}]
chr9	GH09I124617	124617107	124619051	1	[{'connected_gene': 'MIR181A2', 'score': 11.01}, {'connected_gene': 'MIR181B2', 'score': 11.0}, {'connected_gene': 'ARPC5L', 'score': 10.72}, {'connected_gene': 'RPL35', 'score': 10.72}, {'connected_gene': 'WDR38', 'score': 10.72}, {'connected_gene': 'ENSG00000231149', 'score': 10.5}, {'connected_gene': 'NR5A1', 'score': 10.48}, {'connected_gene': 'RN7SL302P', 'score': 0.39}, {'connected_gene': 'MIR181A2HG', 'score': 0.26}, {'connected_gene': 'NR6A1', 'score': 0.1}]
chr9	GH09I124720	124720250	124722226	1.1	[{'connected_gene': 'MIR181A2', 'score': 12.22}, {'connected_gene': 'MIR181B2', 'score': 12.22}, {'connected_gene': 'ENSG00000236643', 'score': 11.62}, {'connected_gene': 'NR6A1', 'score': 11.6}, {'connected_gene': 'WDR38', 'score': 11.04}, {'connected_gene': 'ARPC5L', 'score': 11.04}, {'connected_gene': 'RPL35', 'score': 11.04}, {'connected_gene': 'ENSG00000231149', 'score': 10.3}, {'connected_gene': 'NR5A1', 'score': 10.3}, {'connected_gene': 'GC09P124694', 'score': 0.31}]
chr9	GH09I124510	124510517	124513933	1.18	[{'connected_gene': 'GOLGA1', 'score': 12.22}, {'connected_gene': 'OLFML2A', 'score': 11.41}, {'connected_gene': 'GAPVD1', 'score': 10.75}, {'connected_gene': 'NR5A1', 'score': 0.77}, {'connected_gene': 'ENSG00000231149', 'score': 0.77}]
chr9	GH09I124499	124499745	124502291	0.68	[{'connected_gene': 'GAPVD1', 'score': 20.19}, {'connected_gene': 'GOLGA1', 'score': 12.23}, {'connected_gene': 'OLFML2A', 'score': 11.4}, {'connected_gene': 'NR5A1', 'score': 0.44}, {'connected_gene': 'LOC105376270', 'score': 0.25}]
chr9	GH09I124419	124419642	124420001	0.83	[{'connected_gene': 'NR5A1', 'score': 10.99}, {'connected_gene': 'ENSG00000231149', 'score': 10.98}, {'connected_gene': 'PSMB7', 'score': 0.77}, {'connected_gene': 'ADGRD2', 'score': 0.29}]
chr9	GH09I124410	124410408	124413147	0.97	[{'connected_gene': 'NR5A1', 'score': 10.79}, {'connected_gene': 'ENSG00000231149', 'score': 10.78}, {'connected_gene': 'NEK6', 'score': 10.66}, {'connected_gene': 'PSMB7', 'score': 5.13}, {'connected_gene': 'GC09P124378', 'score': 0.29}]
chr9	GH09I124495	124495530	124496565	0.79	[{'connected_gene': 'NR5A1', 'score': 0.39}, {'connected_gene': 'LOC105376270', 'score': 0.26}]
chr9	GH09I124490	124490971	124491768	0.38	[{'connected_gene': 'NR5A1', 'score': 0.37}, {'connected_gene': 'LOC105376270', 'score': 0.28}]
chr9	GH09I124480	124480622	124480791	0.89	[{'connected_gene': 'NR5A1', 'score': 12.84}, {'connected_gene': 'ENSG00000231149', 'score': 12.81}, {'connected_gene': 'LOC105376270', 'score': 0.31}]
chr9	GH09I124487	124487342	124487491	0.4	[{'connected_gene': 'NR5A1', 'score': 12.7}, {'connected_gene': 'ENSG00000231149', 'score': 12.67}, {'connected_gene': 'LOC105376270', 'score': 0.28}]
chr9	GH09I124527	124527522	124528584	0.4	[{'connected_gene': 'NR5A1', 'score': 12.94}, {'connected_gene': 'PIR56415', 'score': 0.44}, {'connected_gene': 'LOC100419284', 'score': 0.19}, {'connected_gene': 'NR6A1', 'score': 0.07}]
chr9	GH09I124476	124476959	124479036	0.86	[{'connected_gene': 'NR5A1', 'score': 12.84}, {'connected_gene': 'ENSG00000231149', 'score': 12.81}, {'connected_gene': 'MIR181A2HG', 'score': 5.27}, {'connected_gene': 'LOC105376270', 'score': 0.31}, {'connected_gene': 'ADGRD2', 'score': 0.31}]
chr9	GH09I124485	124485287	124486200	0.43	[{'connected_gene': 'NR5A1', 'score': 12.7}, {'connected_gene': 'ENSG00000231149', 'score': 12.65}, {'connected_gene': 'MIR181A2HG', 'score': 5.19}, {'connected_gene': 'LOC105376270', 'score': 0.29}]
chr9	GH09I124482	124482131	124483040	0.63	[{'connected_gene': 'NR5A1', 'score': 12.99}, {'connected_gene': 'ENSG00000231149', 'score': 12.95}, {'connected_gene': 'MIR181A2HG', 'score': 4.07}, {'connected_gene': 'LOC105376270', 'score': 0.29}]
chr9	GH09I124502	124502606	124508510	1.53	[{'connected_gene': 'NR5A1', 'score': 567.99}, {'connected_gene': 'MIR181A2HG', 'score': 6.96}, {'connected_gene': 'PRPS1P2', 'score': 4.2}, {'connected_gene': 'LOC105376270', 'score': 0.23}]
chr9	GH09I124390	124390348	124396308	1.63	[{'connected_gene': 'NEK6', 'score': 11.85}, {'connected_gene': 'PSMB7', 'score': 11.54}, {'connected_gene': 'NR5A1', 'score': 9.99}, {'connected_gene': 'ENSG00000231149', 'score': 9.98}, {'connected_gene': 'ENSG00000231227', 'score': 9.7}, {'connected_gene': 'LOC100505588', 'score': 9.7}, {'connected_gene': 'LHX2', 'score': 9.7}, {'connected_gene': 'DENND1A', 'score': 2.12}, {'connected_gene': 'GC09P124378', 'score': 0.39}]
chr9	GH09I124385	124385538	124387897	1.56	[{'connected_gene': 'NEK6', 'score': 11.07}, {'connected_gene': 'PSMB7', 'score': 10.87}, {'connected_gene': 'ENSG00000231149', 'score': 10.08}, {'connected_gene': 'NR5A1', 'score': 10.08}, {'connected_gene': 'GC09P124378', 'score': 0.44}]
chr9	GH09I124387	124387944	124389836	1.23	[{'connected_gene': 'NEK6', 'score': 11.49}, {'connected_gene': 'ENSG00000231149', 'score': 9.98}, {'connected_gene': 'NR5A1', 'score': 9.98}, {'connected_gene': 'GC09P124378', 'score': 0.39}, {'connected_gene': 'PSMB7', 'score': 0.31}]
chr9	GH09I124453	124453642	124453791	0.49	[{'connected_gene': 'LOC105376270', 'score': 550.77}, {'connected_gene': 'ADGRD2', 'score': 0.77}, {'connected_gene': 'NR5A1', 'score': 0.23}]
chr9	GH09I124488	124488034	124490960	0.56	[{'connected_gene': 'MIR181A2HG', 'score': 5.65}, {'connected_gene': 'OLFML2A', 'score': 5.55}, {'connected_gene': 'NR5A1', 'score': 0.37}, {'connected_gene': 'LOC105376270', 'score': 0.28}]
chr9	GH09I124592	124592040	124597431	1.35	[{'connected_gene': 'MIR181A2HG', 'score': 19.68}, {'connected_gene': 'PRPS1P2', 'score': 15.53}, {'connected_gene': 'MIR181A2', 'score': 10.93}, {'connected_gene': 'MIR181B2', 'score': 10.93}, {'connected_gene': 'ENSG00000231149', 'score': 10.49}, {'connected_gene': 'NR5A1', 'score': 10.47}, {'connected_gene': 'GAPVD1', 'score': 9.78}, {'connected_gene': 'LOC100419284', 'score': 0.77}, {'connected_gene': 'PIR56415', 'score': 0.18}, {'connected_gene': 'NR6A1', 'score': 0.1}]
chr9	GH09I124553	124553717	124554452	0.31	[{'connected_gene': 'ENSG00000231149', 'score': 11.06}, {'connected_gene': 'NR5A1', 'score': 11.03}, {'connected_gene': 'MIR181B2', 'score': 10.89}, {'connected_gene': 'MIR181A2', 'score': 10.89}, {'connected_gene': 'PIR56415', 'score': 0.29}, {'connected_gene': 'LOC100419284', 'score': 0.25}, {'connected_gene': 'NR6A1', 'score': 0.08}]
chr9	GH09I124551	124551103	124552668	0.93	[{'connected_gene': 'ENSG00000231149', 'score': 11.04}, {'connected_gene': 'NR5A1', 'score': 11.03}, {'connected_gene': 'MIR181B2', 'score': 10.47}, {'connected_gene': 'MIR181A2', 'score': 10.47}, {'connected_gene': 'MIR181A2HG', 'score': 10.29}, {'connected_gene': 'PIR56415', 'score': 0.29}, {'connected_gene': 'LOC100419284', 'score': 0.25}, {'connected_gene': 'NR6A1', 'score': 0.08}]
chr9	GH09I124699	124699702	124699851	0.31	[{'connected_gene': 'ENSG00000231149', 'score': 9.89}, {'connected_gene': 'NR5A1', 'score': 9.89}, {'connected_gene': 'GC09P124694', 'score': 0.44}, {'connected_gene': 'NR6A1', 'score': 0.19}, {'connected_gene': 'ENSG00000236643', 'score': 0.19}]
chr9	GH09I124536	124536822	124536991	0.59	[{'connected_gene': 'ENSG00000231149', 'score': 12.75}, {'connected_gene': 'NR5A1', 'score': 12.72}, {'connected_gene': 'PIR56415', 'score': 0.37}, {'connected_gene': 'LOC100419284', 'score': 0.21}, {'connected_gene': 'NR6A1', 'score': 0.07}]
chr9	GH09I124694	124694383	124699605	1.06	[{'connected_gene': 'ENSG00000231149', 'score': 9.89}, {'connected_gene': 'NR5A1', 'score': 9.89}, {'connected_gene': 'MIR181A2HG', 'score': 8.19}, {'connected_gene': 'GC09P124694', 'score': 0.77}, {'connected_gene': 'NR6A1', 'score': 0.19}, {'connected_gene': 'ENSG00000236643', 'score': 0.19}]
chr9	GH09I124574	124574292	124575753	0.82	[{'connected_gene': 'ENSG00000231149', 'score': 11.2}, {'connected_gene': 'NR5A1', 'score': 11.18}, {'connected_gene': 'MIR181A2HG', 'score': 8.23}, {'connected_gene': 'OLFML2A', 'score': 4.22}, {'connected_gene': 'LOC100419284', 'score': 0.34}, {'connected_gene': 'PIR56415', 'score': 0.22}, {'connected_gene': 'NR6A1', 'score': 0.08}]