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
ENST00000554980	[[76424441, 76425688], [76427265, 76427419], [76429658, 76429830], [76431930, 76433065]]	None
ENST00000238682	[[76424544, 76425688], [76427265, 76427419], [76429658, 76429830], [76431930, 76432038], [76437468, 76437598], [76437897, 76438061], [76446884, 76447534]]	[[76425529, 76425688], [76427265, 76427419], [76429658, 76429830], [76431930, 76432038], [76437468, 76437598], [76437897, 76438061], [76446884, 76447236]]
ENST00000556507	[[76425631, 76425688], [76426611, 76426729], [76427265, 76427300]]	None
ENST00000557493	[[76427203, 76427419], [76429658, 76429830], [76431930, 76432038], [76437021, 76437133]]	None
ENST00000556285	[[76429404, 76429830], [76431930, 76432038], [76437468, 76437598], [76437897, 76438061], [76446884, 76447336]]	[[76429654, 76429830], [76431930, 76432038], [76437468, 76437598], [76437897, 76438061], [76446884, 76447236]]
ENST00000555193	[[76446918, 76447423], [76449135, 76449179]]	None
ENST00000556674	[[76447585, 76448102], [76449135, 76449334]]	None
NM_003239	[[76424403, 76425688], [76427265, 76427419], [76429658, 76429830], [76431930, 76432038], [76437468, 76437598], [76437897, 76438061], [76446884, 76448365]]	[[76425529, 76425688], [76427265, 76427419], [76429658, 76429830], [76431930, 76432038], [76437468, 76437598], [76437897, 76438061], [76446884, 76447236]]
NM_001329939	[[76424403, 76425688], [76427265, 76427419], [76429658, 76429830], [76431930, 76432038], [76437468, 76437598], [76437897, 76438061], [76446884, 76448102], [76449135, 76449354]]	[[76425529, 76425688], [76427265, 76427419], [76429658, 76429830], [76431930, 76432038], [76437468, 76437598], [76437897, 76438061], [76446884, 76447236]]
NM_001329938	[[76429403, 76429830], [76431930, 76432038], [76437468, 76437598], [76437897, 76438061], [76446884, 76448365]]	[[76429654, 76429830], [76431930, 76432038], [76437468, 76437598], [76437897, 76438061], [76446884, 76447236]]

Promoter

Chrom	Start	End	Description
chr14	76447342	76447358	CAGE_peak_14_at_TGFB3_5end
chr14	76447439	76447452	CAGE_peak_18_at_TGFB3_5end
chr14	76447469	76447487	CAGE_peak_12_at_TGFB3_5end
chr14	76447494	76447508	CAGE_peak_16_at_TGFB3_5end
chr14	76447742	76447765	CAGE_peak_4_at_TGFB3_5end
chr14	76447825	76447863	CAGE_peak_5_at_TGFB3_5end
chr14	76447888	76447911	CAGE_peak_9_at_TGFB3_5end
chr14	76448012	76448025	CAGE_peak_8_at_TGFB3_5end
chr14	76448206	76448218	CAGE_peak_3_at_TGFB3_5end
chr14	76448226	76448256	CAGE_peak_2_at_TGFB3_5end
chr14	76448329	76448345	CAGE_peak_1_at_TGFB3_5end
chr14	76448351	76448361	CAGE_peak_6_at_TGFB3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I075983	75983549	75984441	0.31	[{'connected_gene': 'TGFB3', 'score': 550.77}, {'connected_gene': 'RPL22P2', 'score': 14.69}, {'connected_gene': 'NEK9', 'score': 11.36}, {'connected_gene': 'LOC100506576', 'score': 0.31}, {'connected_gene': 'IFT43', 'score': 0.18}]
chr14	GH14I075906	75906798	75906947	0.6	[{'connected_gene': 'TGFB3', 'score': 11.69}, {'connected_gene': 'IFT43', 'score': 0.77}, {'connected_gene': 'TGFB3-AS1', 'score': 0.21}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14	GH14I075979	75979315	75983460	2.22	[{'connected_gene': 'TGFB3', 'score': 557.2}, {'connected_gene': 'IFT43', 'score': 10.61}, {'connected_gene': 'TGFB3-AS1', 'score': 0.39}]
chr14	GH14I075904	75904920	75906636	0.85	[{'connected_gene': 'TGFB3', 'score': 16.55}, {'connected_gene': 'LOC102724153', 'score': 4.46}, {'connected_gene': 'IFT43', 'score': 0.77}, {'connected_gene': 'TGFB3-AS1', 'score': 0.2}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14	GH14I075991	75991370	75992494	0.58	[{'connected_gene': 'TGFB3', 'score': 0.44}, {'connected_gene': 'LOC100506576', 'score': 0.34}, {'connected_gene': 'IFT43', 'score': 0.17}]
chr14	GH14I075988	75988525	75990297	1.24	[{'connected_gene': 'TGFB3', 'score': 0.44}, {'connected_gene': 'LOC100506576', 'score': 0.34}, {'connected_gene': 'IFT43', 'score': 0.17}]
chr14	GH14I076006	76006991	76008948	0.2	[{'connected_gene': 'TTLL5', 'score': 4.98}, {'connected_gene': 'LOC100506576', 'score': 0.44}, {'connected_gene': 'TGFB3', 'score': 0.34}, {'connected_gene': 'IFT43', 'score': 0.14}]
chr14	GH14I075935	75935079	75935300	0.8	[{'connected_gene': 'IFT43', 'score': 10.92}, {'connected_gene': 'TGFB3', 'score': 1.51}, {'connected_gene': 'ESRRB', 'score': 1.13}, {'connected_gene': 'TGFB3-AS1', 'score': 0.28}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14	GH14I075980	75978496	75978637	0.75	[{'connected_gene': 'IFT43', 'score': 10.61}, {'connected_gene': 'TGFB3', 'score': 4.08}, {'connected_gene': 'ESRRB', 'score': 1.38}, {'connected_gene': 'TGFB3-AS1', 'score': 0.44}]
chr14	GH14I075978	75978881	75979107	0.58	[{'connected_gene': 'IFT43', 'score': 10.61}, {'connected_gene': 'TGFB3', 'score': 0.77}, {'connected_gene': 'TGFB3-AS1', 'score': 0.44}]
chr14	GH14I075977	75977874	75978307	0.79	[{'connected_gene': 'IFT43', 'score': 10.61}, {'connected_gene': 'TGFB3', 'score': 6.04}, {'connected_gene': 'TGFB3-AS1', 'score': 0.44}]
chr14	GH14I075877	75876003	75876227	1.1	[{'connected_gene': 'IFT43', 'score': 11.57}, {'connected_gene': 'TGFB3', 'score': 1.86}, {'connected_gene': 'BATF', 'score': 1.82}, {'connected_gene': 'ENSG00000259103', 'score': 0.31}, {'connected_gene': 'TTLL5', 'score': 0.07}]
chr14	GH14I075984	75984586	75987111	2.08	[{'connected_gene': 'IFT43', 'score': 550.18}, {'connected_gene': 'TGFB3', 'score': 0.77}, {'connected_gene': 'LOC100506576', 'score': 0.31}]
chr14	GH14I075777	75777602	75777758	0.22	[{'connected_gene': 'IFT43', 'score': 10.67}, {'connected_gene': 'TGFB3', 'score': 1.32}, {'connected_gene': 'RPS2P43', 'score': 0.21}, {'connected_gene': 'GC14P075681', 'score': 0.15}, {'connected_gene': 'TTLL5', 'score': 0.11}]
chr14	GH14I075992	75992685	75997277	1.42	[{'connected_gene': 'IFT43', 'score': 19.29}, {'connected_gene': 'FLVCR2', 'score': 5.85}, {'connected_gene': 'TTLL5', 'score': 4.98}, {'connected_gene': 'TGFB3', 'score': 0.39}, {'connected_gene': 'LOC100506576', 'score': 0.37}]
chr14	GH14I075959	75959584	75961021	0.76	[{'connected_gene': 'IFT43', 'score': 10.56}, {'connected_gene': 'FLVCR2', 'score': 7.56}, {'connected_gene': 'TGFB3-AS1', 'score': 0.39}, {'connected_gene': 'TGFB3', 'score': 0.34}]
chr14	GH14I075997	75997985	75999107	0.2	[{'connected_gene': 'IFT43', 'score': 19.3}, {'connected_gene': 'TTLL5', 'score': 4.57}, {'connected_gene': 'TGFB3', 'score': 0.37}, {'connected_gene': 'LOC100506576', 'score': 0.37}]
chr14	GH14I075928	75928601	75929378	0.82	[{'connected_gene': 'IFT43', 'score': 11.26}, {'connected_gene': 'ESRRB', 'score': 1.95}, {'connected_gene': 'TGFB3', 'score': 1.52}, {'connected_gene': 'TGFB3-AS1', 'score': 0.26}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14	GH14I076000	76000483	76000923	0.2	[{'connected_gene': 'IFT43', 'score': 10.2}, {'connected_gene': 'LOC100506576', 'score': 0.39}, {'connected_gene': 'TGFB3', 'score': 0.37}]
chr14	GH14I075999	75999551	76000129	0.2	[{'connected_gene': 'IFT43', 'score': 19.03}, {'connected_gene': 'LOC100506576', 'score': 0.39}, {'connected_gene': 'TGFB3', 'score': 0.37}]
chr14	GH14I075967	75967823	75974811	0.56	[{'connected_gene': 'TGFB3-AS1', 'score': 550.77}, {'connected_gene': 'IFT43', 'score': 12.38}, {'connected_gene': 'TTLL5', 'score': 6.65}, {'connected_gene': 'TGFB3', 'score': 5.3}]
chr14	GH14I076010	76010986	76015860	1.14	[{'connected_gene': 'LOC100506576', 'score': 550.77}, {'connected_gene': 'GC14P076014', 'score': 550.77}, {'connected_gene': 'TTLL5', 'score': 5.18}, {'connected_gene': 'TGFB3', 'score': 0.29}, {'connected_gene': 'IFT43', 'score': 0.14}]