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
ENST00000318003	[[14017013, 14017314], [14020635, 14020771], [14023135, 14023251], [14023340, 14023406], [14023980, 14024115], [14024216, 14024451], [14028882, 14029007], [14029316, 14029389], [14029558, 14029630], [14029724, 14029855], [14029942, 14030015], [14030630, 14030764], [14031369, 14031481], [14031562, 14031735], [14034145, 14034268], [14034360, 14034419], [14034507, 14034624], [14037329, 14037403], [14037479, 14037538], [14037633, 14037685], [14037790, 14037890], [14037987, 14038078], [14038705, 14038843], [14038936, 14039001], [14040191, 14040255], [14040346, 14040473], [14040890, 14040967], [14041054, 14041102], [14041187, 14041692]]	[[14017254, 14017314], [14020635, 14020771], [14023135, 14023251], [14023340, 14023406], [14023980, 14024115], [14024216, 14024451], [14028882, 14029007], [14029316, 14029389], [14029558, 14029630], [14029724, 14029855], [14029942, 14030015], [14030630, 14030764], [14031369, 14031481], [14031562, 14031735], [14034145, 14034268], [14034360, 14034419], [14034507, 14034624], [14037329, 14037403], [14037479, 14037538], [14037633, 14037685], [14037790, 14037890], [14037987, 14038078], [14038705, 14038843], [14038936, 14039001], [14040191, 14040255], [14040346, 14040473], [14040890, 14040967], [14041054, 14041102], [14041187, 14041208]]
ENST00000585896	[[14017015, 14017314], [14020635, 14020771], [14023980, 14024115], [14024216, 14024451], [14028882, 14029007], [14029316, 14029389], [14029558, 14029630], [14029724, 14029855], [14029942, 14030015], [14030630, 14031194]]	None
ENST00000589606	[[14017254, 14017314], [14020635, 14020771], [14023135, 14023251], [14023340, 14023406], [14023980, 14024115], [14024216, 14024451], [14028882, 14029007], [14029316, 14029389], [14029558, 14029630], [14029724, 14029855], [14029942, 14030015], [14030630, 14030764], [14031369, 14031481], [14031562, 14031735], [14034145, 14034268], [14034360, 14034419], [14034507, 14034624], [14037329, 14037403], [14037479, 14037538], [14037633, 14037685], [14037790, 14037890], [14037987, 14038078], [14038705, 14038843], [14038939, 14039001], [14040191, 14040255], [14040346, 14040473], [14040890, 14040967], [14041054, 14041102], [14041187, 14041472]]	[[14017254, 14017314], [14020635, 14020771], [14023135, 14023251], [14023340, 14023406], [14023980, 14024115], [14024216, 14024451], [14028882, 14029007], [14029316, 14029389], [14029558, 14029630], [14029724, 14029855], [14029942, 14030015], [14030630, 14030764], [14031369, 14031481], [14031562, 14031735], [14034145, 14034268], [14034360, 14034419], [14034507, 14034624], [14037329, 14037403], [14037479, 14037538], [14037633, 14037685], [14037790, 14037890], [14037987, 14038078], [14038705, 14038843], [14038939, 14039001], [14040191, 14040255], [14040346, 14040473], [14040890, 14040967], [14041054, 14041102], [14041187, 14041208]]
ENST00000586955	[[14024065, 14024115], [14024216, 14024451], [14028882, 14029007], [14029316, 14029389], [14029558, 14029630], [14029724, 14029855], [14029942, 14030015], [14031369, 14031481], [14031562, 14031735], [14034145, 14034268], [14034360, 14034419], [14034507, 14034624], [14037329, 14037403], [14037479, 14037538], [14037633, 14037685], [14037790, 14037890], [14037987, 14038078], [14038705, 14038843], [14038936, 14039001], [14040191, 14040255], [14040346, 14040473], [14040890, 14040967], [14041054, 14041102], [14041187, 14041692]]	[[14024065, 14024115], [14024216, 14024451], [14028882, 14029007], [14029316, 14029389], [14029558, 14029630], [14029724, 14029855], [14029942, 14030015], [14031369, 14031481], [14031562, 14031735], [14034145, 14034237]]
ENST00000589138	[[14029319, 14029389], [14029558, 14029630], [14029724, 14029855], [14029942, 14030015], [14030630, 14030764], [14031369, 14031481], [14031562, 14031735], [14034145, 14034268], [14034360, 14034419], [14034507, 14034624], [14037329, 14037403], [14037479, 14037538], [14037633, 14037685], [14037790, 14038843], [14038936, 14039001], [14040191, 14040255], [14040346, 14040350]]	None
ENST00000589679	[[14030506, 14030764], [14031369, 14031481], [14031562, 14031735], [14034145, 14034212]]	None
ENST00000588932	[[14031089, 14031481], [14031562, 14031735], [14034145, 14034268], [14034360, 14034419], [14034507, 14034566]]	None
ENST00000587508	[[14034140, 14034268], [14034360, 14034419], [14034507, 14034624], [14037329, 14037403], [14037479, 14037538], [14037633, 14037685], [14037790, 14037890], [14037987, 14038078], [14038705, 14038843], [14038939, 14039001], [14040191, 14040255], [14040346, 14040473], [14040890, 14040967], [14041054, 14041102], [14041187, 14041658]]	[[14034140, 14034268], [14034360, 14034419], [14034507, 14034624], [14037329, 14037403], [14037479, 14037538], [14037633, 14037685], [14037790, 14037890], [14037987, 14038078], [14038705, 14038843], [14038939, 14039001], [14040191, 14040255], [14040346, 14040473], [14040890, 14040967], [14041054, 14041102], [14041187, 14041208]]
ENST00000589224	[[14034391, 14034419], [14034507, 14034624], [14037329, 14037403], [14037479, 14037538], [14037633, 14037685], [14037790, 14037890], [14037987, 14038366]]	None
NM_017721	[[14016955, 14017314], [14020635, 14020771], [14023135, 14023251], [14023340, 14023406], [14023980, 14024115], [14024216, 14024451], [14028882, 14029007], [14029316, 14029389], [14029558, 14029630], [14029724, 14029855], [14029942, 14030015], [14030630, 14030764], [14031369, 14031481], [14031562, 14031735], [14034145, 14034268], [14034360, 14034419], [14034507, 14034624], [14037329, 14037403], [14037479, 14037538], [14037633, 14037685], [14037790, 14037890], [14037987, 14038078], [14038705, 14038843], [14038936, 14039001], [14040191, 14040255], [14040346, 14040473], [14040890, 14040967], [14041054, 14041102], [14041187, 14041693]]	[[14017254, 14017314], [14020635, 14020771], [14023135, 14023251], [14023340, 14023406], [14023980, 14024115], [14024216, 14024451], [14028882, 14029007], [14029316, 14029389], [14029558, 14029630], [14029724, 14029855], [14029942, 14030015], [14030630, 14030764], [14031369, 14031481], [14031562, 14031735], [14034145, 14034268], [14034360, 14034419], [14034507, 14034624], [14037329, 14037403], [14037479, 14037538], [14037633, 14037685], [14037790, 14037890], [14037987, 14038078], [14038705, 14038843], [14038936, 14039001], [14040191, 14040255], [14040346, 14040473], [14040890, 14040967], [14041054, 14041102], [14041187, 14041208]]

Promoter

Chrom	Start	End	Description
chr19	14017003	14017049	CAGE_peak_1_at_CC2D1A_5end
chr19	14017069	14017115	CAGE_peak_2_at_CC2D1A_5end
chr19	14017116	14017135	CAGE_peak_3_at_CC2D1A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I013920	13920748	13921737	0.84	[{'connected_gene': 'MRI1', 'score': 11.64}, {'connected_gene': 'TRMT1', 'score': 10.38}, {'connected_gene': 'C19orf57', 'score': 0.39}, {'connected_gene': 'CC2D1A', 'score': 0.37}, {'connected_gene': 'DCAF15', 'score': 0.29}]
chr19	GH19I013872	13872508	13873912	0.96	[{'connected_gene': 'MIR181D', 'score': 550.77}, {'connected_gene': 'GC19P013876', 'score': 550.77}, {'connected_gene': 'GC19P013878', 'score': 550.77}, {'connected_gene': 'MIR181C', 'score': 550.77}, {'connected_gene': 'GC19P013877', 'score': 550.77}, {'connected_gene': 'CC2D1A', 'score': 12.96}, {'connected_gene': 'NANOS3', 'score': 0.39}]
chr19	GH19I013905	13905555	13907246	2.04	[{'connected_gene': 'CC2D1A', 'score': 572.56}, {'connected_gene': 'C19orf57', 'score': 550.77}, {'connected_gene': 'CCDC130', 'score': 19.21}, {'connected_gene': 'DCAF15', 'score': 13.76}, {'connected_gene': 'DDX39A', 'score': 13.23}, {'connected_gene': 'RFX1', 'score': 12.89}, {'connected_gene': 'SNRPGP15', 'score': 11.59}, {'connected_gene': 'ZNF333', 'score': 9.82}, {'connected_gene': 'TRMT1', 'score': 9.77}]
chr19	GH19I013884	13884668	13887949	1.17	[{'connected_gene': 'CC2D1A', 'score': 22.82}, {'connected_gene': 'C19orf57', 'score': 13.13}, {'connected_gene': 'PALM3', 'score': 12.96}, {'connected_gene': 'EEF1DP1', 'score': 12.8}, {'connected_gene': 'MISP3', 'score': 12.79}, {'connected_gene': 'IL27RA', 'score': 2.14}, {'connected_gene': 'CCDC130', 'score': 1.37}, {'connected_gene': 'DCAF15', 'score': 1.34}, {'connected_gene': 'GC19P013876', 'score': 0.39}]
chr19	GH19I013879	13879727	13883231	1.29	[{'connected_gene': 'CC2D1A', 'score': 35.17}, {'connected_gene': 'C19orf57', 'score': 13.13}, {'connected_gene': 'PALM3', 'score': 12.8}, {'connected_gene': 'EEF1DP1', 'score': 12.79}, {'connected_gene': 'MISP3', 'score': 12.79}, {'connected_gene': 'GC19P013876', 'score': 0.44}, {'connected_gene': 'NANOS3', 'score': 0.37}]
chr19	GH19I013883	13883808	13883897	0.52	[{'connected_gene': 'CC2D1A', 'score': 13.13}, {'connected_gene': 'C19orf57', 'score': 13.13}, {'connected_gene': 'PALM3', 'score': 12.8}, {'connected_gene': 'MISP3', 'score': 12.79}, {'connected_gene': 'EEF1DP1', 'score': 12.79}, {'connected_gene': 'GC19P013876', 'score': 0.44}]
chr19	GH19I013904	13903401	13903600	0.65	[{'connected_gene': 'CC2D1A', 'score': 0.77}, {'connected_gene': 'C19orf57', 'score': 0.77}, {'connected_gene': 'GC19P013876', 'score': 0.31}]
chr19	GH19I013903	13903248	13903397	0.66	[{'connected_gene': 'CC2D1A', 'score': 0.77}, {'connected_gene': 'C19orf57', 'score': 0.77}, {'connected_gene': 'GC19P013876', 'score': 0.31}]
chr19	GH19I013888	13888288	13888997	0.54	[{'connected_gene': 'CC2D1A', 'score': 21.99}, {'connected_gene': 'GC19P013876', 'score': 0.39}, {'connected_gene': 'C19orf57', 'score': 0.37}]
chr19	GH19I013899	13899171	13899763	0.66	[{'connected_gene': 'CC2D1A', 'score': 0.44}, {'connected_gene': 'C19orf57', 'score': 0.44}, {'connected_gene': 'GC19P013876', 'score': 0.34}]
chr19	GH19I014078	14078201	14079200	0.46	[{'connected_gene': 'NANOS3', 'score': 13.83}, {'connected_gene': 'PRKACA', 'score': 12.7}, {'connected_gene': 'MIR181D', 'score': 12.47}, {'connected_gene': 'MIR181C', 'score': 12.47}, {'connected_gene': 'C19orf57', 'score': 11.63}, {'connected_gene': 'CC2D1A', 'score': 11.63}, {'connected_gene': 'ZSWIM4', 'score': 4.55}, {'connected_gene': 'CCDC130', 'score': 3.36}, {'connected_gene': 'ADGRE5', 'score': 2.72}, {'connected_gene': 'RFX1', 'score': 2.68}, {'connected_gene': 'PKN1', 'score': 1.6}, {'connected_gene': 'DCAF15', 'score': 1.27}, {'connected_gene': 'DNAJB1', 'score': 1.2}, {'connected_gene': 'GC19M014079', 'score': 0.77}, {'connected_gene': 'MIR1199', 'score': 0.44}]
chr19	GH19I013864	13864067	13866839	1.85	[{'connected_gene': 'SNRPGP15', 'score': 9.86}, {'connected_gene': 'ADGRL1', 'score': 6.28}, {'connected_gene': 'CACNA1A', 'score': 6.16}, {'connected_gene': 'C19orf57', 'score': 2.94}, {'connected_gene': 'ZSWIM4', 'score': 2.53}, {'connected_gene': 'RFX1', 'score': 2.28}, {'connected_gene': 'CC2D1A', 'score': 1.41}, {'connected_gene': 'NANOS3', 'score': 0.77}, {'connected_gene': 'MIR181C', 'score': 0.44}]