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
ENST00000505618	[[40192672, 40192958], [40244333, 40244454], [40244797, 40245615]]	[[40245006, 40245582]]
ENST00000507851	[[40194586, 40194743], [40244333, 40244454], [40244797, 40245333]]	[[40245006, 40245333]]
ENST00000503754	[[40194587, 40194743], [40198720, 40198920], [40244333, 40244454], [40244797, 40244877]]	None
ENST00000508513	[[40194609, 40194743], [40198740, 40198920], [40236796, 40236978], [40244333, 40244454], [40244797, 40245054]]	[[40245006, 40245054]]
ENST00000511967	[[40194665, 40194743], [40198740, 40198920], [40244333, 40244454], [40244797, 40244841]]	None
ENST00000503941	[[40195282, 40195432], [40244333, 40244454], [40244797, 40245315]]	[[40245006, 40245315]]
ENST00000381799	[[40198526, 40198920], [40244333, 40244454], [40244797, 40248587]]	[[40245006, 40245582]]
ENST00000513894	[[40198614, 40198920], [40214283, 40214411], [40244333, 40244454], [40244797, 40244813]]	None
ENST00000515702	[[40198652, 40198920], [40241747, 40241965], [40244333, 40244421]]	None
ENST00000515718	[[40198653, 40198920], [40202131, 40202185], [40244333, 40244454], [40244797, 40244929]]	None
ENST00000515503	[[40198677, 40198920], [40219766, 40219918], [40244333, 40244454], [40244797, 40244830]]	None
ENST00000504638	[[40198864, 40198920], [40244333, 40244807]]	None
ENST00000511121	[[40201963, 40202185], [40244333, 40244454], [40244797, 40245025]]	[[40245006, 40245025]]
ENST00000503978	[[40201964, 40202185], [40214283, 40214411], [40244333, 40244454], [40244797, 40244872]]	None
ENST00000514839	[[40198608, 40198920], [40214283, 40214393], [40219662, 40219800]]	None
ENST00000514143	[[40198680, 40198920], [40207312, 40207452], [40211082, 40211289]]	None
NM_001278368	[[40192630, 40192958], [40244333, 40244454], [40244797, 40246384]]	[[40245006, 40245582]]
NM_001278367	[[40194586, 40194743], [40244333, 40244454], [40244797, 40246384]]	[[40245006, 40245582]]
NM_001278366	[[40194586, 40194743], [40198740, 40198920], [40244333, 40244454], [40244797, 40246384]]	[[40245006, 40245582]]
NM_001278364	[[40194586, 40194743], [40198740, 40198920], [40236796, 40236978], [40244333, 40244454], [40244797, 40246384]]	[[40245006, 40245582]]
NM_001278365	[[40194586, 40194743], [40198720, 40198920], [40244333, 40244454], [40244797, 40246384]]	[[40245006, 40245582]]
NM_001278369	[[40195268, 40195432], [40244333, 40244454], [40244797, 40246384]]	[[40245006, 40245582]]
NM_004310	[[40198526, 40198920], [40244333, 40244454], [40244797, 40246384]]	[[40245006, 40245582]]
NM_001278363	[[40198526, 40198920], [40244333, 40244466], [40244797, 40246384]]	[[40245006, 40245582]]
NM_001278359	[[40198526, 40198920], [40236812, 40236978], [40244333, 40244454], [40244797, 40246384]]	[[40245006, 40245582]]
NM_001278360	[[40198526, 40198920], [40219766, 40219918], [40244333, 40244454], [40244797, 40246384]]	[[40245006, 40245582]]
NM_001278361	[[40198526, 40198920], [40214283, 40214411], [40244333, 40244454], [40244797, 40246384]]	[[40245006, 40245582]]
NM_001278362	[[40198526, 40198920], [40202131, 40202185], [40244333, 40244454], [40244797, 40246384]]	[[40245006, 40245582]]

Promoter

Chrom	Start	End	Description
chr4	40192626	40192646	CAGE_peak_9_at_RHOH_5end
chr4	40192656	40192672	CAGE_peak_13_at_RHOH_5end
chr4	40192677	40192712	CAGE_peak_4_at_RHOH_5end
chr4	40192723	40192736	CAGE_peak_10_at_RHOH_5end
chr4	40192752	40192763	CAGE_peak_19_at_RHOH_5end
chr4	40194268	40194278	CAGE_peak_27_at_RHOH_5end
chr4	40194570	40194608	CAGE_peak_5_at_RHOH_5end
chr4	40194609	40194616	CAGE_peak_23_at_RHOH_5end
chr4	40194621	40194632	CAGE_peak_17_at_RHOH_5end
chr4	40194662	40194674	CAGE_peak_15_at_RHOH_5end
chr4	40195262	40195298	CAGE_peak_7_at_RHOH_5end
chr4	40198330	40198334	CAGE_peak_11_at_RHOH_5end
chr4	40198602	40198614	CAGE_peak_3_at_RHOH_5end
chr4	40198642	40198689	CAGE_peak_1_at_RHOH_5end
chr4	40198691	40198704	CAGE_peak_2_at_RHOH_5end
chr4	40201954	40201986	CAGE_peak_6_at_RHOH_5end
chr4	40244302	40244315	CAGE_peak_8_at_RHOH_5end
chr4	40244317	40244328	CAGE_peak_14_at_RHOH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I040212	40212479	40216179	0.88	[{'connected_gene': 'N4BP2', 'score': 11.05}, {'connected_gene': 'LOC344967', 'score': 11.05}, {'connected_gene': 'CHRNA9', 'score': 10.71}, {'connected_gene': 'ARL4AP2', 'score': 5.08}, {'connected_gene': 'RHOH', 'score': 0.34}, {'connected_gene': 'GC04P040235', 'score': 0.34}, {'connected_gene': 'GC04P040193', 'score': 0.34}, {'connected_gene': 'GC04P040194', 'score': 0.34}, {'connected_gene': 'GC04P040236', 'score': 0.34}]
chr4	GH04I040054	40054367	40058972	2.62	[{'connected_gene': 'N4BP2', 'score': 567.11}, {'connected_gene': 'LOC344967', 'score': 550.77}, {'connected_gene': 'PDS5A', 'score': 11.66}, {'connected_gene': 'ENSG00000250568', 'score': 11.25}, {'connected_gene': 'RHOH', 'score': 10.83}]
chr4	GH04I040237	40237434	40240559	1.71	[{'connected_gene': 'N4BP2', 'score': 21.63}, {'connected_gene': 'PDS5A', 'score': 18.81}, {'connected_gene': 'RFC1', 'score': 16.32}, {'connected_gene': 'RHOH', 'score': 15.74}, {'connected_gene': 'LOC344967', 'score': 10.45}, {'connected_gene': 'CHRNA9', 'score': 10.15}, {'connected_gene': 'ENSG00000250906', 'score': 10.02}, {'connected_gene': 'ZBTB12BP', 'score': 5.3}, {'connected_gene': 'RBM47', 'score': 4.04}, {'connected_gene': 'GC04P040235', 'score': 0.77}, {'connected_gene': 'GC04P040242', 'score': 0.77}, {'connected_gene': 'GC04P040243', 'score': 0.77}, {'connected_gene': 'GC04P040236', 'score': 0.77}]
chr4	GH04I040178	40178038	40182543	1.27	[{'connected_gene': 'CHRNA9', 'score': 10.88}, {'connected_gene': 'RBM47', 'score': 10.59}, {'connected_gene': 'RNU7-74P', 'score': 10.37}, {'connected_gene': 'WDR19', 'score': 4.76}, {'connected_gene': 'RHOH', 'score': 4.71}, {'connected_gene': 'ENSG00000260296', 'score': 0.39}, {'connected_gene': 'N4BP2', 'score': 0.13}]
chr4	GH04I040283	40283082	40284477	0.82	[{'connected_gene': 'CHRNA9', 'score': 10.73}, {'connected_gene': 'RHOH', 'score': 6.64}, {'connected_gene': 'N4BP2', 'score': 1.26}, {'connected_gene': 'ENSG00000250338', 'score': 0.37}, {'connected_gene': 'LINC02265', 'score': 0.34}]
chr4	GH04I040152	40152109	40153006	0.43	[{'connected_gene': 'CHRNA9', 'score': 11.81}, {'connected_gene': 'RHOH', 'score': 11.68}, {'connected_gene': 'ENSG00000260296', 'score': 0.39}, {'connected_gene': 'ENSG00000248977', 'score': 0.39}, {'connected_gene': 'N4BP2', 'score': 0.15}]
chr4	GH04I040182	40182890	40187631	1.48	[{'connected_gene': 'CHRNA9', 'score': 10.88}, {'connected_gene': 'RNU7-74P', 'score': 10.38}, {'connected_gene': 'UGDH-AS1', 'score': 5.4}, {'connected_gene': 'RBM47', 'score': 4.58}, {'connected_gene': 'RHOH', 'score': 0.44}, {'connected_gene': 'ENSG00000260296', 'score': 0.37}, {'connected_gene': 'N4BP2', 'score': 0.13}]
chr4	GH04I040176	40176741	40176910	0.65	[{'connected_gene': 'RHOH', 'score': 0.39}, {'connected_gene': 'ENSG00000260296', 'score': 0.39}, {'connected_gene': 'N4BP2', 'score': 0.13}]
chr4	GH04I040274	40274230	40275719	0.2	[{'connected_gene': 'RHOH', 'score': 11.69}, {'connected_gene': 'CHRNA9', 'score': 11.3}, {'connected_gene': 'RNU7-74P', 'score': 9.65}, {'connected_gene': 'NSUN7', 'score': 4.4}, {'connected_gene': 'ENSG00000250338', 'score': 0.44}, {'connected_gene': 'LINC02265', 'score': 0.29}]
chr4	GH04I040241	40241058	40248849	1.34	[{'connected_gene': 'RHOH', 'score': 17.52}, {'connected_gene': 'CHRNA9', 'score': 10.73}, {'connected_gene': 'RNU7-74P', 'score': 10.05}, {'connected_gene': 'ZBTB12BP', 'score': 4.9}, {'connected_gene': 'RBM47', 'score': 3.61}, {'connected_gene': 'PDS5A', 'score': 1.67}, {'connected_gene': 'GC04P040242', 'score': 0.77}, {'connected_gene': 'GC04P040243', 'score': 0.77}, {'connected_gene': 'ENSG00000250338', 'score': 0.34}]
chr4	GH04I040189	40189122	40211155	2.79	[{'connected_gene': 'RHOH', 'score': 559.75}, {'connected_gene': 'PDS5A', 'score': 27.91}, {'connected_gene': 'N4BP2', 'score': 25.8}, {'connected_gene': 'RFC1', 'score': 16.32}, {'connected_gene': 'RBM47', 'score': 12.15}, {'connected_gene': 'LOC344967', 'score': 11.06}, {'connected_gene': 'ENSG00000250568', 'score': 10.83}, {'connected_gene': 'CHRNA9', 'score': 10.7}, {'connected_gene': 'ENSG00000250906', 'score': 10.02}, {'connected_gene': 'UGDH-AS1', 'score': 5.37}, {'connected_gene': 'ARL4AP2', 'score': 4.7}, {'connected_gene': 'GC04P040193', 'score': 0.44}, {'connected_gene': 'GC04P040194', 'score': 0.44}, {'connected_gene': 'GC04P040235', 'score': 0.28}, {'connected_gene': 'GC04P040236', 'score': 0.28}]
chr4	GH04I040288	40288785	40291937	1.59	[{'connected_gene': 'RHOH', 'score': 3.92}, {'connected_gene': 'LINC02265', 'score': 0.37}, {'connected_gene': 'ENSG00000250338', 'score': 0.34}]
chr4	GH04I040223	40223979	40224728	0.2	[{'connected_gene': 'RHOH', 'score': 11.76}, {'connected_gene': 'GC04P040235', 'score': 0.39}, {'connected_gene': 'GC04P040236', 'score': 0.39}, {'connected_gene': 'GC04P040193', 'score': 0.29}, {'connected_gene': 'GC04P040194', 'score': 0.29}]
chr4	GH04I040224	40224886	40229504	1.02	[{'connected_gene': 'RHOH', 'score': 11.74}, {'connected_gene': 'GC04P040235', 'score': 0.44}, {'connected_gene': 'GC04P040236', 'score': 0.44}, {'connected_gene': 'GC04P040193', 'score': 0.29}, {'connected_gene': 'GC04P040194', 'score': 0.29}]
chr4	GH04I040221	40221571	40222510	0.63	[{'connected_gene': 'RHOH', 'score': 12.12}, {'connected_gene': 'GC04P040235', 'score': 0.39}, {'connected_gene': 'GC04P040236', 'score': 0.39}, {'connected_gene': 'GC04P040193', 'score': 0.31}, {'connected_gene': 'GC04P040194', 'score': 0.31}]
chr4	GH04I040216	40216339	40219201	0.38	[{'connected_gene': 'RHOH', 'score': 12.68}, {'connected_gene': 'GC04P040235', 'score': 0.37}, {'connected_gene': 'GC04P040236', 'score': 0.37}, {'connected_gene': 'GC04P040193', 'score': 0.34}, {'connected_gene': 'GC04P040194', 'score': 0.34}]
chr4	GH04I040211	40211608	40212342	0.52	[{'connected_gene': 'LOC344967', 'score': 11.06}, {'connected_gene': 'N4BP2', 'score': 11.05}, {'connected_gene': 'CHRNA9', 'score': 10.71}, {'connected_gene': 'RPL9', 'score': 4.72}, {'connected_gene': 'GC04P040193', 'score': 0.37}, {'connected_gene': 'GC04P040194', 'score': 0.37}, {'connected_gene': 'RHOH', 'score': 0.34}, {'connected_gene': 'GC04P040235', 'score': 0.34}, {'connected_gene': 'GC04P040236', 'score': 0.34}]
chr4	GH04I040298	40298052	40313167	1.71	[{'connected_gene': 'LINC02265', 'score': 550.77}, {'connected_gene': 'N4BP2', 'score': 21.55}, {'connected_gene': 'PDS5A', 'score': 15.86}, {'connected_gene': 'ZBTB12BP', 'score': 12.81}, {'connected_gene': 'RHOH', 'score': 12.05}, {'connected_gene': 'CHRNA9', 'score': 11.86}, {'connected_gene': 'LOC344967', 'score': 11.05}, {'connected_gene': 'RFC1', 'score': 10.04}, {'connected_gene': 'RBM47', 'score': 3.25}, {'connected_gene': 'ENSG00000250338', 'score': 0.26}]
chr4	GH04I040172	40172240	40174685	0.52	[{'connected_gene': 'ENSG00000260296', 'score': 0.44}, {'connected_gene': 'RHOH', 'score': 0.37}, {'connected_gene': 'N4BP2', 'score': 0.13}]
chr4	GH04I040233	40233952	40235636	0.46	[{'connected_gene': 'GC04P040235', 'score': 550.77}, {'connected_gene': 'GC04P040236', 'score': 550.77}, {'connected_gene': 'RHOH', 'score': 0.26}, {'connected_gene': 'GC04P040193', 'score': 0.26}, {'connected_gene': 'GC04P040194', 'score': 0.26}]
chr4	GH04I040230	40230321	40233105	0.99	[{'connected_gene': 'GC04P040235', 'score': 0.77}, {'connected_gene': 'GC04P040236', 'score': 0.77}, {'connected_gene': 'GC04P040193', 'score': 0.28}, {'connected_gene': 'GC04P040194', 'score': 0.28}, {'connected_gene': 'RHOH', 'score': 0.26}]
chr4	GH04I040235	40235804	40236412	0.2	[{'connected_gene': 'GC04P040235', 'score': 550.77}, {'connected_gene': 'GC04P040236', 'score': 550.77}, {'connected_gene': 'GC04P040242', 'score': 0.44}, {'connected_gene': 'GC04P040243', 'score': 0.44}, {'connected_gene': 'RHOH', 'score': 0.25}]