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
ENST00000261699	[[50704280, 50704443], [50732075, 50732207], [50734470, 50734628], [50735880, 50736048], [50745237, 50745272], [50750588, 50750751], [50760832, 50760964], [50768734, 50768886], [50769619, 50769735], [50778728, 50778886]]	[[50704313, 50704443], [50732075, 50732207], [50734470, 50734628], [50735880, 50736048], [50745237, 50745272], [50750588, 50750751], [50760832, 50760964], [50768734, 50768886], [50769619, 50769735], [50778728, 50778868]]
ENST00000267436	[[50712119, 50713971], [50732075, 50732207], [50734470, 50734628], [50735880, 50736048], [50745237, 50745272], [50750588, 50750751], [50760832, 50760964], [50768734, 50768886], [50769619, 50769735], [50778728, 50779266]]	[[50713775, 50713971], [50732075, 50732207], [50734470, 50734628], [50735880, 50736048], [50745237, 50745272], [50750588, 50750751], [50760832, 50760964], [50768734, 50768886], [50769619, 50769735], [50778728, 50778868]]
ENST00000421284	[[50712368, 50712838], [50713758, 50713971], [50732075, 50732207], [50734470, 50734628], [50735880, 50736048], [50745237, 50745272], [50750588, 50750751], [50760832, 50760964], [50768734, 50768886], [50769619, 50769735], [50778728, 50778947]]	[[50713775, 50713971], [50732075, 50732207], [50734470, 50734628], [50735880, 50736048], [50745237, 50745272], [50750588, 50750751], [50760832, 50760964], [50768734, 50768886], [50769619, 50769735], [50778728, 50778868]]
ENST00000555423	[[50749160, 50749222], [50750588, 50750751], [50760832, 50760964], [50768734, 50768886], [50769619, 50769735], [50778728, 50778944]]	[[50749214, 50749222], [50750588, 50750751], [50760832, 50760964], [50768734, 50768886], [50769619, 50769735], [50778728, 50778868]]
ENST00000555610	[[50750570, 50750751], [50759922, 50760001], [50760832, 50760964], [50768734, 50768886], [50769619, 50769735], [50778728, 50778872]]	[[50750734, 50750751], [50759922, 50760001], [50760832, 50760964], [50768734, 50768886], [50769619, 50769735], [50778728, 50778868]]
ENST00000554191	[[50760915, 50760964], [50768734, 50768886], [50769619, 50769735], [50778087, 50778151], [50778728, 50778944]]	[[50778090, 50778151], [50778728, 50778868]]
ENST00000556393	[[50768734, 50768886], [50769619, 50769735], [50778008, 50778151], [50778728, 50778865]]	None
NM_024884	[[50709151, 50713971], [50732075, 50732207], [50734470, 50734628], [50735880, 50736048], [50745237, 50745272], [50750588, 50750751], [50760832, 50760964], [50768734, 50768886], [50769619, 50769735], [50778728, 50778947]]	[[50713775, 50713971], [50732075, 50732207], [50734470, 50734628], [50735880, 50736048], [50745237, 50745272], [50750588, 50750751], [50760832, 50760964], [50768734, 50768886], [50769619, 50769735], [50778728, 50778868]]

Promoter

Chrom	Start	End	Description
chr14	50778895	50778928	CAGE_peak_2_at_L2HGDH_5end
chr14	50778931	50778955	CAGE_peak_1_at_L2HGDH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I050834	50834627	50836189	1.43	[{'connected_gene': 'L2HGDH', 'score': 4.32}, {'connected_gene': 'NIN', 'score': 4.06}, {'connected_gene': 'ENSG00000252945', 'score': 0.44}]
chr14	GH14I050311	50311148	50313511	2.03	[{'connected_gene': 'ATP5S', 'score': 583.92}, {'connected_gene': 'L2HGDH', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 20.49}, {'connected_gene': 'RHOQP1', 'score': 11.25}, {'connected_gene': 'LRR1', 'score': 10.5}, {'connected_gene': 'ENSG00000270062', 'score': 10.32}, {'connected_gene': 'SOS2', 'score': 7.78}]
chr14	GH14I050237	50237201	50238000	0.31	[{'connected_gene': 'ATP5S', 'score': 11.08}, {'connected_gene': 'SOS2', 'score': 0.44}, {'connected_gene': 'MIR4504', 'score': 0.21}, {'connected_gene': 'L2HGDH', 'score': 0.19}]
chr14	GH14I050319	50319040	50322539	1.7	[{'connected_gene': 'ATP5S', 'score': 33.59}, {'connected_gene': 'KLHDC2', 'score': 12.37}, {'connected_gene': 'NEMF', 'score': 10.62}, {'connected_gene': 'SAV1', 'score': 10.58}, {'connected_gene': 'MAP4K5', 'score': 10.15}, {'connected_gene': 'CDKL1', 'score': 4.5}, {'connected_gene': 'PIR33272', 'score': 0.77}, {'connected_gene': 'L2HGDH', 'score': 0.44}]
chr14	GH14I050820	50819989	50825326	1.25	[{'connected_gene': 'LOC105370489', 'score': 550.77}, {'connected_gene': 'L2HGDH', 'score': 4.63}, {'connected_gene': 'NIN', 'score': 0.44}]
chr14	GH14I050299	50299414	50300399	0.38	[{'connected_gene': 'MIR4504', 'score': 550.77}, {'connected_gene': 'L2HGDH', 'score': 0.39}, {'connected_gene': 'SOS2', 'score': 0.2}]
chr14	GH14I050303	50303863	50304052	0.92	[{'connected_gene': 'MIR4504', 'score': 0.77}, {'connected_gene': 'ATP5S', 'score': 0.44}, {'connected_gene': 'L2HGDH', 'score': 0.44}]
chr14	GH14I049997	49997251	50009919	1.81	[{'connected_gene': 'GC14M050001', 'score': 550.77}, {'connected_gene': 'VCPKMT', 'score': 15.59}, {'connected_gene': 'LINC01588', 'score': 13.49}, {'connected_gene': 'RNU6-189P', 'score': 11.95}, {'connected_gene': 'ARF6', 'score': 2.07}, {'connected_gene': 'RPL36AL', 'score': 1.51}, {'connected_gene': 'ATP5S', 'score': 1.33}, {'connected_gene': 'L2HGDH', 'score': 1.32}, {'connected_gene': 'RPS29', 'score': 1.26}, {'connected_gene': 'PDLIM1P1', 'score': 0.25}]
chr14	GH14I050845	50845999	50847287	0.63	[{'connected_gene': 'ENSG00000258687', 'score': 550.77}, {'connected_gene': 'PYGL', 'score': 10.32}, {'connected_gene': 'L2HGDH', 'score': 4.29}, {'connected_gene': 'ENSG00000252945', 'score': 0.77}, {'connected_gene': 'LOC105370491', 'score': 0.39}]