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
ENST00000260641	[[65454886, 65455091], [65466985, 65467096], [65473657, 65473873], [65478160, 65478233], [65480861, 65480998], [65482678, 65482828], [65488380, 65488526], [65492176, 65492309], [65495697, 65498387]]	[[65455043, 65455091], [65466985, 65467096], [65473657, 65473873], [65478160, 65478233], [65480861, 65480998], [65482678, 65482828], [65488380, 65488526], [65492176, 65492309], [65495697, 65495868]]
ENST00000476840	[[65454921, 65455091], [65466985, 65467096], [65469105, 65469197], [65473657, 65473871]]	None
ENST00000471552	[[65454966, 65455091], [65466985, 65467096], [65473318, 65473441], [65473657, 65473852]]	None
ENST00000542850	[[65454966, 65455091], [65466985, 65467096], [65473318, 65473441], [65473657, 65473873], [65478160, 65478233], [65480861, 65480998], [65482678, 65482828], [65488380, 65488526], [65492176, 65492501]]	[[65473663, 65473873], [65478160, 65478233], [65480861, 65480998], [65482678, 65482828], [65488380, 65488526], [65492176, 65492378]]
ENST00000377982	[[65454970, 65455091], [65466985, 65467096], [65469182, 65469197], [65473657, 65473873], [65478160, 65478233], [65480861, 65480998], [65482678, 65482828], [65488380, 65488526], [65492176, 65492309], [65495697, 65497280]]	[[65455043, 65455091], [65466985, 65467096], [65469182, 65469197], [65473657, 65473873], [65478160, 65478233], [65480861, 65480998], [65482678, 65482828], [65488380, 65488526], [65492176, 65492309], [65495697, 65495868]]
NM_005722	[[65454828, 65455091], [65466985, 65467096], [65473657, 65473873], [65478160, 65478233], [65480861, 65480998], [65482678, 65482828], [65488380, 65488526], [65492176, 65492309], [65495697, 65498387]]	[[65455043, 65455091], [65466985, 65467096], [65473657, 65473873], [65478160, 65478233], [65480861, 65480998], [65482678, 65482828], [65488380, 65488526], [65492176, 65492309], [65495697, 65495868]]
NM_001005386	[[65454828, 65455091], [65466985, 65467096], [65469182, 65469197], [65473657, 65473873], [65478160, 65478233], [65480861, 65480998], [65482678, 65482828], [65488380, 65488526], [65492176, 65492309], [65495697, 65498387]]	[[65455043, 65455091], [65466985, 65467096], [65469182, 65469197], [65473657, 65473873], [65478160, 65478233], [65480861, 65480998], [65482678, 65482828], [65488380, 65488526], [65492176, 65492309], [65495697, 65495868]]

Promoter

Chrom	Start	End	Description
chr2	65454863	65454889	CAGE_peak_3_at_ACTR2_5end
chr2	65454896	65454917	CAGE_peak_2_at_ACTR2_5end
chr2	65454926	65454991	CAGE_peak_1_at_ACTR2_5end
chr2	65455240	65455267	CAGE_peak_10_at_ACTR2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I064924	64924157	64924522	0.9	[{'connected_gene': 'SLC1A4', 'score': 24.4}, {'connected_gene': 'RAB1A', 'score': 14.9}, {'connected_gene': 'LINC02576', 'score': 11.54}, {'connected_gene': 'RNU6-548P', 'score': 11.22}, {'connected_gene': 'CEP68', 'score': 10.72}, {'connected_gene': 'ACTR2', 'score': 2.65}, {'connected_gene': 'AFTPH', 'score': 2.11}, {'connected_gene': 'LINC02245', 'score': 0.44}, {'connected_gene': 'RN7SL211P', 'score': 0.37}]
chr2	GH02I064914	64914153	64919727	1.63	[{'connected_gene': 'SLC1A4', 'score': 24.64}, {'connected_gene': 'LINC02576', 'score': 11.53}, {'connected_gene': 'RAB1A', 'score': 11.45}, {'connected_gene': 'RNU6-548P', 'score': 11.21}, {'connected_gene': 'CEP68', 'score': 10.73}, {'connected_gene': 'ACTR2', 'score': 1.31}, {'connected_gene': 'RN7SL211P', 'score': 0.44}, {'connected_gene': 'LINC02245', 'score': 0.37}]
chr2	GH02I065126	65126117	65134328	2.29	[{'connected_gene': 'RAB1A', 'score': 550.77}, {'connected_gene': 'CEP68', 'score': 33.69}, {'connected_gene': 'AFTPH', 'score': 10.81}, {'connected_gene': 'LINC02576', 'score': 10.37}, {'connected_gene': 'ACTR2', 'score': 9.9}, {'connected_gene': 'SERTAD2', 'score': 9.75}, {'connected_gene': 'GC02P065109', 'score': 0.34}]
chr2	GH02I064830	64830349	64832839	1.78	[{'connected_gene': 'VPS54', 'score': 23.26}, {'connected_gene': 'SERTAD2', 'score': 15.13}, {'connected_gene': 'RN7SL211P', 'score': 10.28}, {'connected_gene': 'LINC02576', 'score': 9.89}, {'connected_gene': 'SLC1A4', 'score': 6.39}, {'connected_gene': 'RAB1A', 'score': 5.7}, {'connected_gene': 'LINC01800', 'score': 4.72}, {'connected_gene': 'ACTR2', 'score': 2.49}, {'connected_gene': 'AFTPH', 'score': 2.3}, {'connected_gene': 'ENSG00000199964', 'score': 0.77}, {'connected_gene': 'GC02M064835', 'score': 0.77}, {'connected_gene': 'RN7SL341P', 'score': 0.39}]
chr2	GH02I064851	64851838	64855599	1.58	[{'connected_gene': 'VPS54', 'score': 23.26}, {'connected_gene': 'RAB1A', 'score': 10.65}, {'connected_gene': 'ACTR2', 'score': 7.59}, {'connected_gene': 'LINC01800', 'score': 7.14}, {'connected_gene': 'SLC1A4', 'score': 7.1}, {'connected_gene': 'AFTPH', 'score': 6.03}, {'connected_gene': 'SERTAD2', 'score': 5.68}, {'connected_gene': 'GC02P064841', 'score': 0.39}]
chr2	GH02I064928	64928218	64935478	1.51	[{'connected_gene': 'LINC02245', 'score': 550.77}, {'connected_gene': 'SLC1A4', 'score': 30.38}, {'connected_gene': 'RN7SL211P', 'score': 12.07}, {'connected_gene': 'RNU6-548P', 'score': 11.61}, {'connected_gene': 'LINC02576', 'score': 11.16}, {'connected_gene': 'RAB1A', 'score': 6.14}, {'connected_gene': 'ACTR2', 'score': 2.2}, {'connected_gene': 'AFTPH', 'score': 2.09}, {'connected_gene': 'SERTAD2', 'score': 1.56}]
chr2	GH02I065060	65060636	65066399	1.35	[{'connected_gene': 'CEP68', 'score': 30.52}, {'connected_gene': 'RAB1A', 'score': 11.79}, {'connected_gene': 'RNU6-548P', 'score': 10.06}, {'connected_gene': 'ACTR2', 'score': 9.67}, {'connected_gene': 'LOC105374779', 'score': 0.37}]
chr2	GH02I065075	65075253	65077030	1.43	[{'connected_gene': 'CEP68', 'score': 24.03}, {'connected_gene': 'RAB1A', 'score': 14.96}, {'connected_gene': 'LINC02576', 'score': 11.93}, {'connected_gene': 'ACTR2', 'score': 5.69}, {'connected_gene': 'SERTAD2', 'score': 3.42}, {'connected_gene': 'SLC1A4', 'score': 1.44}, {'connected_gene': 'LOC105374779', 'score': 0.44}]
chr2	GH02I065054	65054866	65059989	2.47	[{'connected_gene': 'CEP68', 'score': 584.2}, {'connected_gene': 'LOC105374778', 'score': 550.77}, {'connected_gene': 'RAB1A', 'score': 11.78}, {'connected_gene': 'RNU6-548P', 'score': 10.06}, {'connected_gene': 'ACTR2', 'score': 9.64}, {'connected_gene': 'LOC105374779', 'score': 0.31}]
chr2	GH02I065048	65048953	65049803	0.76	[{'connected_gene': 'CEP68', 'score': 33.76}, {'connected_gene': 'ACTR2', 'score': 4.23}, {'connected_gene': 'LOC105374778', 'score': 0.44}, {'connected_gene': 'LINC02576', 'score': 0.37}]
chr2	GH02I065265	65265167	65265336	0.72	[{'connected_gene': 'SPRED2', 'score': 11.27}, {'connected_gene': 'ACTR2', 'score': 11.24}, {'connected_gene': 'GC02P065254', 'score': 0.39}, {'connected_gene': 'GC02P065309', 'score': 0.26}]
chr2	GH02I065545	65545472	65546743	0.9	[{'connected_gene': 'RN7SL635P', 'score': 550.77}, {'connected_gene': 'ENSG00000237979', 'score': 13.53}, {'connected_gene': 'ACTR2', 'score': 10.89}, {'connected_gene': 'VTRNA2-2P', 'score': 0.44}, {'connected_gene': 'LOC105369166', 'score': 0.2}, {'connected_gene': 'LOC101927533', 'score': 0.14}]
chr2	GH02I064766	64766149	64771596	1.78	[{'connected_gene': 'LOC105374777', 'score': 550.77}, {'connected_gene': 'VPS54', 'score': 18.41}, {'connected_gene': 'LINC02576', 'score': 9.15}, {'connected_gene': 'SERTAD2', 'score': 5.52}, {'connected_gene': 'SLC1A4', 'score': 3.39}, {'connected_gene': 'AFTPH', 'score': 2.09}, {'connected_gene': 'RAB1A', 'score': 1.98}, {'connected_gene': 'ACTR2', 'score': 1.5}, {'connected_gene': 'GC02P064779', 'score': 0.39}]
chr2	GH02I065077	65077305	65078076	0.31	[{'connected_gene': 'LINC02576', 'score': 11.93}, {'connected_gene': 'RAB1A', 'score': 11.15}, {'connected_gene': 'ACTR2', 'score': 10.76}, {'connected_gene': 'CEP68', 'score': 4.58}, {'connected_gene': 'LOC105374779', 'score': 0.77}]
chr2	GH02I065231	65230996	65233513	0.83	[{'connected_gene': 'LINC02576', 'score': 9.67}, {'connected_gene': 'LOC105374780', 'score': 5.38}, {'connected_gene': 'GC02P065228', 'score': 0.77}, {'connected_gene': 'ACTR2', 'score': 0.77}, {'connected_gene': 'GC02P065242', 'score': 0.39}]
chr2	GH02I064857	64857513	64866256	2.05	[{'connected_gene': 'LINC01800', 'score': 550.77}, {'connected_gene': 'VPS54', 'score': 26.54}, {'connected_gene': 'SERTAD2', 'score': 22.73}, {'connected_gene': 'ACTR2', 'score': 6.68}, {'connected_gene': 'AFTPH', 'score': 4.09}, {'connected_gene': 'RAB1A', 'score': 2.44}, {'connected_gene': 'SLC1A4', 'score': 2.11}, {'connected_gene': 'GC02P064841', 'score': 0.34}]
chr2	GH02I065226	65226718	65230232	2.07	[{'connected_gene': 'ACTR2', 'score': 559.89}, {'connected_gene': 'GC02M065227', 'score': 550.77}, {'connected_gene': 'GC02P065228', 'score': 550.77}, {'connected_gene': 'AFTPH', 'score': 10.81}, {'connected_gene': 'SERTAD2', 'score': 9.74}, {'connected_gene': 'LOC105374780', 'score': 5.35}]
chr2	GH02I065176	65176668	65179023	0.38	[{'connected_gene': 'ACTR2', 'score': 5.77}, {'connected_gene': 'CEP68', 'score': 5.36}, {'connected_gene': 'GC02M065182', 'score': 0.44}, {'connected_gene': 'GC02P065168', 'score': 0.44}]
chr2	GH02I065277	65277957	65279776	0.82	[{'connected_gene': 'ACTR2', 'score': 23.22}, {'connected_gene': 'SPRED2', 'score': 10.73}, {'connected_gene': 'LOC105374780', 'score': 5.0}, {'connected_gene': 'GC02P065254', 'score': 0.34}, {'connected_gene': 'GC02P065309', 'score': 0.31}]
chr2	GH02I065276	65276618	65277703	0.43	[{'connected_gene': 'ACTR2', 'score': 22.54}, {'connected_gene': 'SPRED2', 'score': 10.72}, {'connected_gene': 'GC02P065254', 'score': 0.34}, {'connected_gene': 'GC02P065309', 'score': 0.29}]
chr2	GH02I065299	65299104	65303273	1.16	[{'connected_gene': 'ACTR2', 'score': 7.16}, {'connected_gene': 'LOC105374780', 'score': 5.62}, {'connected_gene': 'GC02P065309', 'score': 0.44}, {'connected_gene': 'GC02P065254', 'score': 0.25}]
chr2	GH02I064836	64836680	64842599	1.51	[{'connected_gene': 'GC02P064841', 'score': 550.77}, {'connected_gene': 'LINC01800', 'score': 20.32}, {'connected_gene': 'SERTAD2', 'score': 12.45}, {'connected_gene': 'RN7SL211P', 'score': 11.15}, {'connected_gene': 'RNU6-548P', 'score': 10.25}, {'connected_gene': 'SLC1A4', 'score': 6.77}, {'connected_gene': 'RAB1A', 'score': 5.78}, {'connected_gene': 'ACTR2', 'score': 1.74}, {'connected_gene': 'AFTPH', 'score': 1.35}, {'connected_gene': 'ENSG00000199964', 'score': 0.44}, {'connected_gene': 'GC02M064835', 'score': 0.44}]
chr2	GH02I065169	65169387	65171876	0.8	[{'connected_gene': 'GC02P065168', 'score': 550.77}, {'connected_gene': 'ACTR2', 'score': 5.69}, {'connected_gene': 'LINC02576', 'score': 5.08}, {'connected_gene': 'GC02M065182', 'score': 0.39}]
chr2	GH02I065230	65230584	65230590	0.54	[{'connected_gene': 'GC02P065228', 'score': 550.77}, {'connected_gene': 'ACTR2', 'score': 0.77}, {'connected_gene': 'GC02P065242', 'score': 0.39}]