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
ENST00000324324	[[48431624, 48435268], [48441228, 48441280], [48441359, 48441568], [48443296, 48443368], [48443669, 48443768], [48444070, 48444139], [48444430, 48444481], [48445988, 48446090], [48450189, 48450253], [48450371, 48450421], [48450965, 48451119], [48451809, 48452001], [48458129, 48458223], [48458317, 48458325], [48459545, 48459598], [48460827, 48461036], [48470273, 48470714]]	[[48435104, 48435268], [48441228, 48441280], [48441359, 48441568], [48443296, 48443368], [48443669, 48443768], [48444070, 48444139], [48444430, 48444481], [48445988, 48446090], [48450189, 48450253], [48450371, 48450421], [48450965, 48451119], [48451809, 48452001], [48458129, 48458223], [48458317, 48458325], [48459545, 48459598], [48460827, 48461036], [48470273, 48470434]]
ENST00000558289	[[48431628, 48435268], [48441228, 48441280], [48441359, 48442183]]	None
ENST00000560530	[[48433992, 48435268], [48441228, 48441280], [48441359, 48441568], [48443669, 48443768], [48444070, 48444471]]	None
ENST00000267836	[[48433993, 48435268], [48441228, 48441280], [48441359, 48441568], [48443669, 48443768], [48444070, 48444139], [48444430, 48444481], [48445988, 48446090], [48450189, 48450253], [48450371, 48450421], [48450965, 48451119], [48451809, 48452001], [48458129, 48458223], [48458317, 48458325], [48459545, 48459598], [48460827, 48461036], [48470273, 48470550]]	[[48435104, 48435268], [48441228, 48441280], [48441359, 48441568], [48443669, 48443768], [48444070, 48444139], [48444430, 48444481], [48445988, 48446090], [48450189, 48450253], [48450371, 48450421], [48450965, 48451119], [48451809, 48452001], [48458129, 48458223], [48458317, 48458325], [48459545, 48459598], [48460827, 48461036], [48470273, 48470434]]
ENST00000560172	[[48433994, 48434333], [48435092, 48435268], [48441228, 48441280], [48441359, 48441523]]	[[48435104, 48435268], [48441228, 48441280], [48441359, 48441523]]
ENST00000559057	[[48434862, 48435268], [48441228, 48441510]]	None
ENST00000558395	[[48435257, 48435268], [48441228, 48441280], [48441359, 48441568], [48443669, 48443768], [48444070, 48444139], [48445988, 48446090], [48450189, 48450253], [48450371, 48450421], [48450965, 48451119], [48451809, 48451867]]	[[48435257, 48435268], [48441228, 48441280], [48441359, 48441568], [48443669, 48443768], [48444070, 48444139], [48445988, 48446090], [48450189, 48450253], [48450371, 48450421], [48450965, 48451119], [48451809, 48451867]]
ENST00000560513	[[48441393, 48441568], [48443669, 48443768], [48444070, 48444139], [48444430, 48444481], [48445988, 48446273]]	None
ENST00000561301	[[48444313, 48444481], [48445988, 48446090], [48450189, 48450253], [48450371, 48450421], [48450965, 48451118]]	None
ENST00000561351	[[48444503, 48446090], [48450189, 48450253], [48450371, 48450421], [48450965, 48451119], [48451809, 48452001], [48458129, 48458223], [48458317, 48458325], [48460827, 48461036], [48470273, 48470513]]	[[48458214, 48458223], [48458317, 48458325], [48460827, 48461036], [48470273, 48470434]]
ENST00000557868	[[48449332, 48450095], [48450189, 48450253], [48450371, 48450421], [48450965, 48451117]]	None
ENST00000559862	[[48451792, 48452001], [48460827, 48461036], [48470273, 48470488]]	None
ENST00000560157	[[48454891, 48455090], [48458129, 48458223], [48458317, 48458325], [48460827, 48461036], [48462041, 48462107]]	None
ENST00000561151	[[48454915, 48455090], [48458129, 48458223], [48458317, 48458325], [48460827, 48461036], [48470273, 48470523]]	[[48458214, 48458223], [48458317, 48458325], [48460827, 48461036], [48470273, 48470434]]
NM_016132	[[48431624, 48435268], [48441228, 48441280], [48441359, 48441568], [48443296, 48443368], [48443669, 48443768], [48444070, 48444139], [48444430, 48444481], [48445988, 48446090], [48450189, 48450253], [48450371, 48450421], [48450965, 48451119], [48451809, 48452001], [48458129, 48458223], [48458317, 48458325], [48459545, 48459598], [48460827, 48461036], [48470273, 48470558]]	[[48435104, 48435268], [48441228, 48441280], [48441359, 48441568], [48443296, 48443368], [48443669, 48443768], [48444070, 48444139], [48444430, 48444481], [48445988, 48446090], [48450189, 48450253], [48450371, 48450421], [48450965, 48451119], [48451809, 48452001], [48458129, 48458223], [48458317, 48458325], [48459545, 48459598], [48460827, 48461036], [48470273, 48470434]]
NM_001301210	[[48431624, 48435268], [48441228, 48441280], [48441359, 48441568], [48443669, 48443768], [48444070, 48444139], [48444430, 48444481], [48445988, 48446090], [48450189, 48450253], [48450371, 48450421], [48450965, 48451119], [48451809, 48452001], [48458129, 48458223], [48458317, 48458325], [48459545, 48459598], [48460827, 48461036], [48470273, 48470558]]	[[48435104, 48435268], [48441228, 48441280], [48441359, 48441568], [48443669, 48443768], [48444070, 48444139], [48444430, 48444481], [48445988, 48446090], [48450189, 48450253], [48450371, 48450421], [48450965, 48451119], [48451809, 48452001], [48458129, 48458223], [48458317, 48458325], [48459545, 48459598], [48460827, 48461036], [48470273, 48470434]]
NR_125408	[[48444503, 48446090], [48450189, 48450253], [48450371, 48450421], [48450965, 48451119], [48451809, 48452001], [48458129, 48458223], [48458317, 48458325], [48460827, 48461036], [48470273, 48470558]]	None

Promoter

Chrom	Start	End	Description
chr15	48442084	48442096	CAGE_peak_9_at_MYEF2_5end
chr15	48470481	48470541	CAGE_peak_1_at_MYEF2_5end
chr15	48470544	48470555	CAGE_peak_2_at_MYEF2_5end
chr15	48470558	48470572	CAGE_peak_3_at_MYEF2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I047687	47687064	47687406	0.24	[{'connected_gene': 'MYEF2', 'score': 1.53}, {'connected_gene': 'RPL7AP62', 'score': 0.26}, {'connected_gene': 'LOC105370804', 'score': 0.18}, {'connected_gene': 'SEMA6D', 'score': 0.03}]
chr15	GH15I048176	48176667	48179074	1.83	[{'connected_gene': 'CTXN2', 'score': 550.77}, {'connected_gene': 'MYEF2', 'score': 550.77}, {'connected_gene': 'GC15P048147', 'score': 0.29}]
chr15	GH15I048143	48143992	48144330	0.39	[{'connected_gene': 'SLC24A5', 'score': 5.8}, {'connected_gene': 'GC15P048147', 'score': 0.77}, {'connected_gene': 'GC15M048135', 'score': 0.44}, {'connected_gene': 'MYEF2', 'score': 0.29}]
chr15	GH15I048149	48149207	48151136	0.43	[{'connected_gene': 'GC15P048147', 'score': 0.77}, {'connected_gene': 'CTXN2', 'score': 0.31}, {'connected_gene': 'MYEF2', 'score': 0.31}]