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
ENST00000600076	[[14627896, 14628196], [14673336, 14673387], [14674017, 14674069], [14674469, 14674550]]	None
ENST00000215567	[[14640371, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676790]]	[[14640508, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676683]]
ENST00000598298	[[14640390, 14640523], [14644744, 14644858], [14647476, 14647506], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804]]	[[14675075, 14675099], [14675597, 14675670], [14675760, 14675804]]
ENST00000596073	[[14640403, 14640523], [14673336, 14673387], [14673985, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676789]]	[[14675075, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676683]]
ENST00000600083	[[14640405, 14640523], [14673336, 14673387], [14673952, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676792]]	[[14675075, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676683]]
ENST00000436007	[[14640406, 14640523], [14655925, 14655992], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676789]]	[[14655932, 14655992], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676683]]
ENST00000598987	[[14640406, 14640523], [14655925, 14655992], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676789]]	[[14640508, 14640523], [14655925, 14655992], [14673336, 14673387], [14674017, 14674064]]
ENST00000601652	[[14640409, 14640523], [14673336, 14673387], [14673952, 14674338]]	None
ENST00000593637	[[14640421, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14675099], [14675597, 14675670], [14675760, 14676070]]	None
ENST00000599646	[[14640441, 14643340]]	None
ENST00000594807	[[14640441, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674715], [14674793, 14674931]]	None
ENST00000598333	[[14640447, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674646, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676472]]	[[14640508, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674646, 14674715], [14674793, 14674879]]
ENST00000596953	[[14640452, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14676095]]	None
ENST00000597607	[[14640468, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676790]]	None
ENST00000596164	[[14640508, 14640523], [14673336, 14673387], [14673985, 14674069], [14674469, 14674514], [14674646, 14674696]]	None
ENST00000598715	[[14656535, 14656700], [14673336, 14673387], [14673985, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674885]]	[[14656681, 14656700], [14673336, 14673387], [14673985, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674885]]
ENST00000598918	[[14656570, 14656700], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674590, 14674626]]	[[14656681, 14656700], [14673336, 14673387], [14674017, 14674064]]
ENST00000594545	[[14672778, 14672933], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675793]]	[[14675075, 14675099], [14675597, 14675670], [14675760, 14675793]]
ENST00000601461	[[14672863, 14672933], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674582, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675852]]	None
ENST00000600395	[[14674869, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14676102], [14676429, 14676475], [14676555, 14676783]]	None
ENST00000601187	[[14675040, 14675099], [14675597, 14675670], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676789]]	[[14675040, 14675099], [14675597, 14675670], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676683]]
ENST00000601350	[[14675063, 14675099], [14675597, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676733]]	None
ENST00000599101	[[14675505, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676737]]	None
ENST00000593775	[[14675509, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676787]]	None
ENST00000598408	[[14675753, 14675935], [14676013, 14676102], [14676555, 14676792]]	None
ENST00000594958	[[14675772, 14675804], [14675877, 14676102], [14676429, 14676773]]	None
NM_001321170	[[14640371, 14640523], [14655925, 14655992], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676792]]	[[14655932, 14655992], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676683]]
NM_138501	[[14640378, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676792]]	[[14640508, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676683]]
NR_038103	[[14640378, 14640523], [14673336, 14673387], [14673985, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676792]]	None
NR_038104	[[14640378, 14640523], [14673336, 14673387], [14673952, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676792]]	None

Promoter

Chrom	Start	End	Description
chr19	14640392	14640420	CAGE_peak_1_at_TECR_5end
chr19	14640427	14640448	CAGE_peak_2_at_TECR_5end
chr19	14672802	14672884	CAGE_peak_3_at_TECR_5end
chr19	14672996	14673012	CAGE_peak_5_at_TECR_5end
chr19	14673021	14673028	CAGE_peak_10_at_TECR_5end
chr19	14673071	14673095	CAGE_peak_6_at_TECR_5end
chr19	14673103	14673114	CAGE_peak_8_at_TECR_5end
chr19	14673170	14673182	CAGE_peak_4_at_TECR_5end
chr19	14673282	14673294	CAGE_peak_14_at_TECR_5end
chr19	14673321	14673353	CAGE_peak_9_at_TECR_5end
chr19	14675483	14675510	CAGE_peak_7_at_TECR_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I014512	14512509	14524550	2.6	[{'connected_gene': 'TECR', 'score': 566.76}, {'connected_gene': 'DNAJB1', 'score': 562.9}, {'connected_gene': 'NOTCH3', 'score': 13.11}, {'connected_gene': 'SYDE1', 'score': 12.3}, {'connected_gene': 'AKAP8', 'score': 11.92}, {'connected_gene': 'SNRPGP15', 'score': 11.87}, {'connected_gene': 'BRD4', 'score': 11.33}, {'connected_gene': 'ENSG00000273218', 'score': 9.72}, {'connected_gene': 'GIPC1', 'score': 6.04}, {'connected_gene': 'IL27RA', 'score': 5.35}, {'connected_gene': 'ADGRE5', 'score': 4.79}, {'connected_gene': 'PKN1', 'score': 3.86}, {'connected_gene': 'DDX39A', 'score': 1.58}, {'connected_gene': 'GC19P014515', 'score': 0.77}, {'connected_gene': 'PIR54842', 'score': 0.44}]
chr19	GH19I014362	14362609	14364498	1.91	[{'connected_gene': 'DCAF15', 'score': 16.87}, {'connected_gene': 'DDX39A', 'score': 11.65}, {'connected_gene': 'ADGRE5', 'score': 10.91}, {'connected_gene': 'RFX1', 'score': 10.51}, {'connected_gene': 'TECR', 'score': 6.25}, {'connected_gene': 'ZNF333', 'score': 3.96}, {'connected_gene': 'PKN1', 'score': 2.57}, {'connected_gene': 'ADGRE2', 'score': 1.25}, {'connected_gene': 'LINC01841', 'score': 0.44}, {'connected_gene': 'LINC01842', 'score': 0.31}]
chr19	GH19I014227	14227880	14228618	1.02	[{'connected_gene': 'CCDC130', 'score': 93.71}, {'connected_gene': 'MRI1', 'score': 82.58}, {'connected_gene': 'ZNF333', 'score': 68.37}, {'connected_gene': 'RFX1', 'score': 39.18}, {'connected_gene': 'DCAF15', 'score': 32.11}, {'connected_gene': 'DDX39A', 'score': 20.97}, {'connected_gene': 'NOTCH3', 'score': 13.11}, {'connected_gene': 'SYDE1', 'score': 12.29}, {'connected_gene': 'SNRPGP15', 'score': 11.62}, {'connected_gene': 'C19orf67', 'score': 11.53}, {'connected_gene': 'TECR', 'score': 10.7}, {'connected_gene': 'RN7SL231P', 'score': 0.37}, {'connected_gene': 'ENSG00000267406', 'score': 0.26}]
chr19	GH19I014000	14000593	14007606	2.63	[{'connected_gene': 'RFX1', 'score': 593.27}, {'connected_gene': 'CCDC130', 'score': 72.03}, {'connected_gene': 'TRMT1', 'score': 41.86}, {'connected_gene': 'DDX39A', 'score': 38.27}, {'connected_gene': 'DCAF15', 'score': 35.74}, {'connected_gene': 'ZNF333', 'score': 30.73}, {'connected_gene': 'MRI1', 'score': 18.13}, {'connected_gene': 'LOC284454', 'score': 14.27}, {'connected_gene': 'TECR', 'score': 10.68}, {'connected_gene': 'PKN1', 'score': 4.85}, {'connected_gene': 'ADGRE5', 'score': 3.11}, {'connected_gene': 'ZSWIM4', 'score': 2.38}, {'connected_gene': 'IL27RA', 'score': 1.66}, {'connected_gene': 'ENSG00000275091', 'score': 0.77}, {'connected_gene': 'PODNL1', 'score': 0.23}]
chr19	GH19I014558	14558042	14565160	1.2	[{'connected_gene': 'NDUFB7', 'score': 6.05}, {'connected_gene': 'DNAJB1', 'score': 0.29}, {'connected_gene': 'TECR', 'score': 0.26}]
chr19	GH19I014546	14544627	14546955	0.83	[{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'TECR', 'score': 5.73}, {'connected_gene': 'SLC1A6', 'score': 5.12}, {'connected_gene': 'DNAJB1', 'score': 0.37}]
chr19	GH19I014544	14544013	14544176	0.52	[{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'TECR', 'score': 5.79}, {'connected_gene': 'DNAJB1', 'score': 0.39}]
chr19	GH19I014542	14542334	14543401	0.92	[{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'TECR', 'score': 6.09}, {'connected_gene': 'LOC100507373', 'score': 5.1}, {'connected_gene': 'DNAJB1', 'score': 0.39}]
chr19	GH19I014545	14544318	14544418	0.72	[{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'DNAJB1', 'score': 0.39}, {'connected_gene': 'TECR', 'score': 0.31}]
chr19	GH19I014541	14541419	14541791	0.31	[{'connected_gene': 'NDUFB7', 'score': 12.89}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'LOC100507373', 'score': 5.62}, {'connected_gene': 'DNAJB1', 'score': 0.39}, {'connected_gene': 'TECR', 'score': 0.34}]
chr19	GH19I014525	14525248	14531134	2.72	[{'connected_gene': 'DNAJB1', 'score': 561.5}, {'connected_gene': 'TECR', 'score': 556.69}, {'connected_gene': 'GC19P014531', 'score': 550.77}, {'connected_gene': 'PIR54842', 'score': 550.77}, {'connected_gene': 'MIR639', 'score': 550.77}, {'connected_gene': 'GC19P014530', 'score': 550.77}, {'connected_gene': 'CCDC130', 'score': 26.34}, {'connected_gene': 'AKAP8', 'score': 19.93}, {'connected_gene': 'MRI1', 'score': 18.09}, {'connected_gene': 'BRD4', 'score': 12.46}, {'connected_gene': 'ZNF333', 'score': 12.34}, {'connected_gene': 'RFX1', 'score': 9.74}, {'connected_gene': 'GIPC1', 'score': 5.98}, {'connected_gene': 'OR7C2', 'score': 4.92}]
chr19	GH19I014509	14509002	14511799	1.24	[{'connected_gene': 'DNAJB1', 'score': 10.19}, {'connected_gene': 'TECR', 'score': 4.82}, {'connected_gene': 'GC19P014515', 'score': 0.77}, {'connected_gene': 'GIPC1', 'score': 0.39}]
chr19	GH19I014502	14502150	14508912	1.69	[{'connected_gene': 'DNAJB1', 'score': 11.84}, {'connected_gene': 'ENSG00000268189', 'score': 9.66}, {'connected_gene': 'GIPC1', 'score': 8.78}, {'connected_gene': 'PKN1', 'score': 5.91}, {'connected_gene': 'ADGRE5', 'score': 4.84}, {'connected_gene': 'TECR', 'score': 4.83}, {'connected_gene': 'SNRPGP15', 'score': 4.79}, {'connected_gene': 'IL27RA', 'score': 3.83}, {'connected_gene': 'DDX39A', 'score': 1.4}, {'connected_gene': 'GC19P014515', 'score': 0.44}]
chr19	GH19I014787	14787132	14787747	0.69	[{'connected_gene': 'ADGRE2', 'score': 19.57}, {'connected_gene': 'TECR', 'score': 5.01}, {'connected_gene': 'LOC100129118', 'score': 0.77}]
chr19	GH19I014550	14550001	14555198	1.64	[{'connected_gene': 'LOC284454', 'score': 14.19}, {'connected_gene': 'CCDC130', 'score': 13.68}, {'connected_gene': 'RFX1', 'score': 10.28}, {'connected_gene': 'AKAP8L', 'score': 10.23}, {'connected_gene': 'MRI1', 'score': 10.18}, {'connected_gene': 'AKAP8', 'score': 10.07}, {'connected_gene': 'SLC1A6', 'score': 7.52}, {'connected_gene': 'OR7C2', 'score': 3.49}, {'connected_gene': 'NDUFB7', 'score': 0.37}, {'connected_gene': 'DNAJB1', 'score': 0.34}, {'connected_gene': 'TECR', 'score': 0.28}]
chr19	GH19I014536	14536521	14538519	1.05	[{'connected_gene': 'GIPC1', 'score': 12.15}, {'connected_gene': 'TECR', 'score': 5.71}, {'connected_gene': 'DNAJB1', 'score': 0.44}, {'connected_gene': 'NDUFB7', 'score': 0.29}]
chr19	GH19I014535	14535688	14536309	0.31	[{'connected_gene': 'GIPC1', 'score': 12.16}, {'connected_gene': 'TECR', 'score': 5.55}, {'connected_gene': 'DNAJB1', 'score': 0.44}, {'connected_gene': 'NDUFB7', 'score': 0.28}]
chr19	GH19I014531	14531732	14534134	0.72	[{'connected_gene': 'GIPC1', 'score': 12.16}, {'connected_gene': 'TECR', 'score': 5.77}, {'connected_gene': 'DNAJB1', 'score': 0.77}, {'connected_gene': 'NDUFB7', 'score': 0.28}]
chr19	GH19I014365	14365418	14376806	1.68	[{'connected_gene': 'LINC01841', 'score': 550.77}, {'connected_gene': 'ADGRE5', 'score': 13.88}, {'connected_gene': 'PKN1', 'score': 7.22}, {'connected_gene': 'TECR', 'score': 5.79}, {'connected_gene': 'DDX39A', 'score': 5.55}, {'connected_gene': 'ZNF333', 'score': 3.81}, {'connected_gene': 'DCAF15', 'score': 3.52}, {'connected_gene': 'IL27RA', 'score': 3.4}, {'connected_gene': 'DNAJB1', 'score': 3.03}, {'connected_gene': 'RFX1', 'score': 2.58}]
chr19	GH19I014555	14555535	14557398	1.36	[{'connected_gene': 'AKAP8', 'score': 75.37}, {'connected_gene': 'CCDC130', 'score': 69.43}, {'connected_gene': 'MRI1', 'score': 44.94}, {'connected_gene': 'RFX1', 'score': 37.78}, {'connected_gene': 'BRD4', 'score': 36.33}, {'connected_gene': 'ZNF333', 'score': 31.8}, {'connected_gene': 'DCAF15', 'score': 23.92}, {'connected_gene': 'DDX39A', 'score': 21.0}, {'connected_gene': 'AKAP8L', 'score': 18.27}, {'connected_gene': 'SNRPGP15', 'score': 10.0}, {'connected_gene': 'NDUFB7', 'score': 5.45}, {'connected_gene': 'DNAJB1', 'score': 0.31}, {'connected_gene': 'TECR', 'score': 0.28}]