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
ENST00000554611	[[100150640, 100150873], [100157417, 100157498], [100158116, 100158198], [100161768, 100161811], [100165802, 100165876], [100166351, 100166438], [100172983, 100173122], [100173904, 100179774]]	[[100150754, 100150873], [100157417, 100157498], [100158116, 100158198], [100161768, 100161777]]
ENST00000261835	[[100150650, 100150873], [100157417, 100157498], [100158116, 100158198], [100165802, 100165876], [100166351, 100166438], [100172983, 100173122], [100173904, 100174015], [100182146, 100182297], [100182473, 100182536], [100184390, 100184463], [100187575, 100187660], [100188292, 100188403], [100191727, 100191816], [100192526, 100192593], [100192893, 100193638]]	[[100150754, 100150873], [100157417, 100157498], [100158116, 100158198], [100165802, 100165876], [100166351, 100166438], [100172983, 100173122], [100173904, 100174015], [100182146, 100182297], [100182473, 100182536], [100184390, 100184463], [100187575, 100187660], [100188292, 100188403], [100191727, 100191816], [100192526, 100192593], [100192893, 100193064]]
ENST00000423126	[[100151038, 100151118], [100157417, 100157498], [100158116, 100158198], [100165802, 100165876], [100166351, 100166438], [100172983, 100173122], [100173904, 100174015], [100182146, 100182297], [100182473, 100182536], [100184390, 100184463], [100187575, 100187660], [100188292, 100188403], [100191727, 100191816], [100192526, 100192593], [100192893, 100193199]]	[[100165811, 100165876], [100166351, 100166438], [100172983, 100173122], [100173904, 100174015], [100182146, 100182297], [100182473, 100182536], [100184390, 100184463], [100187575, 100187660], [100188292, 100188403], [100191727, 100191816], [100192526, 100192593], [100192893, 100193064]]
ENST00000380228	[[100151040, 100151118], [100157417, 100157498], [100158116, 100158198], [100165802, 100165876], [100166351, 100166438], [100172983, 100173122], [100173904, 100174015], [100182146, 100182297], [100182473, 100182536], [100184390, 100184463], [100187575, 100187660], [100188292, 100188403], [100191727, 100191816], [100192526, 100192593], [100192893, 100193199]]	[[100151040, 100151118], [100157417, 100157498], [100158116, 100158198], [100165802, 100165876], [100166351, 100166438], [100172983, 100173122], [100173904, 100174015], [100182146, 100182297], [100182473, 100182536], [100184390, 100184463], [100187575, 100187660], [100188292, 100188403], [100191727, 100191816], [100192526, 100192593], [100192893, 100193064]]
ENST00000554176	[[100172333, 100173122], [100173904, 100174015], [100182146, 100182297], [100182473, 100182536], [100184390, 100184463], [100187575, 100187660], [100188292, 100188373], [100191727, 100191816], [100192526, 100192593], [100192893, 100193637]]	[[100172999, 100173122], [100173904, 100174015], [100182146, 100182297], [100182473, 100182536], [100184390, 100184463], [100187575, 100187660], [100188292, 100188373], [100191727, 100191816], [100192526, 100192593], [100192893, 100193064]]
ENST00000554917	[[100182146, 100182297], [100182473, 100182536], [100184390, 100184463], [100187575, 100187660], [100188292, 100188373], [100191727, 100191816], [100192526, 100192606]]	[[100182146, 100182297], [100182473, 100182477]]
ENST00000556313	[[100182194, 100182297], [100182473, 100182536], [100184390, 100184463], [100187575, 100187660], [100188292, 100188403], [100189222, 100189469]]	[[100182194, 100182297], [100182473, 100182536], [100184390, 100184463], [100187575, 100187660], [100188292, 100188403], [100189222, 100189282]]
ENST00000556822	[[100184019, 100184463], [100187575, 100187660], [100188292, 100188344]]	None
NM_006668	[[100150754, 100150873], [100157417, 100157498], [100158116, 100158198], [100165802, 100165876], [100166351, 100166438], [100172983, 100173122], [100173904, 100174015], [100182146, 100182297], [100182473, 100182536], [100184390, 100184463], [100187575, 100187660], [100188292, 100188403], [100191727, 100191816], [100192526, 100192593], [100192893, 100193638]]	[[100150754, 100150873], [100157417, 100157498], [100158116, 100158198], [100165802, 100165876], [100166351, 100166438], [100172983, 100173122], [100173904, 100174015], [100182146, 100182297], [100182473, 100182536], [100184390, 100184463], [100187575, 100187660], [100188292, 100188403], [100191727, 100191816], [100192526, 100192593], [100192893, 100193064]]

Promoter

Chrom	Start	End	Description
chr14	100150535	100150549	CAGE_peak_3_at_CYP46A1_5end
chr14	100150588	100150598	CAGE_peak_4_at_CYP46A1_5end
chr14	100150622	100150689	CAGE_peak_1_at_CYP46A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I099670	99670700	99672333	0.64	[{'connected_gene': 'HHIPL1', 'score': 25.38}, {'connected_gene': 'GC14P099668', 'score': 0.77}, {'connected_gene': 'CYP46A1', 'score': 0.39}]
chr14	GH14I099672	99672661	99672793	0.66	[{'connected_gene': 'HHIPL1', 'score': 1.74}, {'connected_gene': 'GC14P099668', 'score': 0.77}, {'connected_gene': 'CYP46A1', 'score': 0.39}]
chr14	GH14I099872	99872026	99873401	0.71	[{'connected_gene': 'EML1', 'score': 15.52}, {'connected_gene': 'CCNK', 'score': 14.47}, {'connected_gene': 'ENSG00000234648', 'score': 12.81}, {'connected_gene': 'RPL3P4', 'score': 11.18}, {'connected_gene': 'CYP46A1', 'score': 10.68}, {'connected_gene': 'GC14M099882', 'score': 0.39}, {'connected_gene': 'GC14M099754', 'score': 0.14}]
chr14	GH14I099822	99822529	99823409	0.4	[{'connected_gene': 'EML1', 'score': 10.89}, {'connected_gene': 'HHIPL1', 'score': 10.7}, {'connected_gene': 'CYP46A1', 'score': 10.62}, {'connected_gene': 'GC14M099754', 'score': 0.22}, {'connected_gene': 'GC14M099882', 'score': 0.21}]
chr14	GH14I099819	99819104	99820940	0.43	[{'connected_gene': 'EML1', 'score': 11.51}, {'connected_gene': 'HHIPL1', 'score': 10.7}, {'connected_gene': 'CYP46A1', 'score': 10.66}, {'connected_gene': 'GC14M099754', 'score': 0.23}, {'connected_gene': 'GC14M099882', 'score': 0.21}]
chr14	GH14I099687	99687844	99688027	0.57	[{'connected_gene': 'EML1', 'score': 11.14}, {'connected_gene': 'HHIPL1', 'score': 11.12}, {'connected_gene': 'CYP46A1', 'score': 0.77}, {'connected_gene': 'ENSG00000258672', 'score': 0.44}]
chr14	GH14I099774	99774868	99775266	0.72	[{'connected_gene': 'EML1', 'score': 15.68}, {'connected_gene': 'WDR25', 'score': 10.64}, {'connected_gene': 'HHIPL1', 'score': 10.13}, {'connected_gene': 'CYP46A1', 'score': 1.39}, {'connected_gene': 'GC14M099754', 'score': 0.44}, {'connected_gene': 'GC14M099882', 'score': 0.14}]
chr14	GH14I099682	99682719	99684994	2.01	[{'connected_gene': 'CYP46A1', 'score': 550.77}, {'connected_gene': 'HHIPL1', 'score': 12.52}, {'connected_gene': 'ENSG00000258672', 'score': 7.85}, {'connected_gene': 'GC14P099668', 'score': 0.37}]
chr14	GH14I099673	99672801	99673000	0.43	[{'connected_gene': 'GC14P099668', 'score': 0.77}, {'connected_gene': 'CYP46A1', 'score': 0.39}, {'connected_gene': 'HHIPL1', 'score': 0.2}]
chr14	GH14I099277	99277682	99277942	0.55	[{'connected_gene': 'GC14P099279', 'score': 550.77}, {'connected_gene': 'CYP46A1', 'score': 12.06}, {'connected_gene': 'BCL11B', 'score': 0.44}]