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
ENST00000216455	[[58711548, 58711659], [58714467, 58714550], [58718836, 58718960], [58724462, 58724564], [58724642, 58724716], [58727665, 58727738], [58730422, 58730488], [58734191, 58734238], [58737135, 58737203], [58737651, 58737716], [58738568, 58738725]]	[[58711638, 58711659], [58714467, 58714550], [58718836, 58718960], [58724462, 58724564], [58724642, 58724716], [58727665, 58727738], [58730422, 58730488], [58734191, 58734238], [58737135, 58737203], [58737651, 58737716], [58738568, 58738613]]
ENST00000554812	[[58711563, 58711659], [58714467, 58714550], [58718841, 58718960], [58724462, 58724564], [58724642, 58724716], [58727665, 58727738], [58730422, 58730488], [58734191, 58734857]]	None
ENST00000553665	[[58711573, 58711659], [58714467, 58714550], [58718836, 58718960], [58724462, 58724564], [58724642, 58725172]]	None
ENST00000557087	[[58711583, 58711659], [58714467, 58714550], [58724462, 58724564], [58724642, 58724716], [58727665, 58727738], [58730422, 58730488], [58734191, 58734238], [58737135, 58737203], [58737651, 58737716]]	[[58711638, 58711659], [58714467, 58714550], [58724462, 58724469]]
ENST00000555931	[[58711590, 58711659], [58714467, 58714550], [58718841, 58718960], [58724462, 58724564], [58724642, 58724716], [58727676, 58727738], [58730422, 58730488], [58734191, 58734222]]	[[58711638, 58711659], [58714467, 58714550], [58718841, 58718902]]
ENST00000412908	[[58711594, 58711659], [58714467, 58714550], [58718836, 58718960], [58724462, 58724564], [58724642, 58724716], [58727686, 58727738], [58730422, 58730488], [58734191, 58734238], [58737135, 58737203], [58737651, 58737716], [58738568, 58738730]]	[[58711638, 58711659], [58714467, 58714550], [58718836, 58718960], [58724462, 58724564], [58724642, 58724716], [58727686, 58727738], [58730422, 58730488], [58734191, 58734238], [58737135, 58737203], [58737651, 58737716], [58738568, 58738613]]
ENST00000555743	[[58711596, 58711659], [58714467, 58714550], [58718836, 58718960], [58724462, 58724564], [58724642, 58724716], [58727665, 58727738], [58730422, 58730488], [58734191, 58734246]]	None
ENST00000557508	[[58711621, 58711659], [58718836, 58718960], [58724462, 58724564], [58724642, 58724716], [58727665, 58727738], [58730422, 58730488], [58734191, 58734238], [58737135, 58737203], [58737651, 58737716], [58738568, 58738725]]	[[58718957, 58718960], [58724462, 58724564], [58724642, 58724716], [58727665, 58727738], [58730422, 58730488], [58734191, 58734238], [58737135, 58737203], [58737651, 58737716], [58738568, 58738613]]
ENST00000556321	[[58714506, 58714550], [58718841, 58718960], [58724462, 58724799]]	None
ENST00000554456	[[58711591, 58711659], [58711829, 58712196]]	None
ENST00000553677	[[58724642, 58724716], [58737135, 58737203], [58737651, 58737716], [58738568, 58738724]]	[[58724642, 58724716], [58737135, 58737203], [58737651, 58737716], [58738568, 58738613]]
ENST00000554207	[[58730241, 58730488], [58734191, 58734514]]	None
ENST00000557290	[[58736692, 58737203], [58737651, 58737716], [58738568, 58738722]]	None
NR_038123	[[58711522, 58711659], [58718836, 58718960], [58724462, 58724564], [58724642, 58724716], [58727665, 58727738], [58730422, 58730488], [58734191, 58734238], [58737135, 58737203], [58737651, 58737716], [58738568, 58738727]]	None
NM_152132	[[58711522, 58711659], [58714467, 58714550], [58718836, 58718960], [58724462, 58724564], [58724642, 58724716], [58727686, 58727738], [58730422, 58730488], [58734191, 58734238], [58737135, 58737203], [58737651, 58737716], [58738568, 58738727]]	[[58711638, 58711659], [58714467, 58714550], [58718836, 58718960], [58724462, 58724564], [58724642, 58724716], [58727686, 58727738], [58730422, 58730488], [58734191, 58734238], [58737135, 58737203], [58737651, 58737716], [58738568, 58738613]]
NM_002788	[[58711522, 58711659], [58714467, 58714550], [58718836, 58718960], [58724462, 58724564], [58724642, 58724716], [58727665, 58727738], [58730422, 58730488], [58734191, 58734238], [58737135, 58737203], [58737651, 58737716], [58738568, 58738727]]	[[58711638, 58711659], [58714467, 58714550], [58718836, 58718960], [58724462, 58724564], [58724642, 58724716], [58727665, 58727738], [58730422, 58730488], [58734191, 58734238], [58737135, 58737203], [58737651, 58737716], [58738568, 58738613]]

Promoter

Chrom	Start	End	Description
chr14	58711520	58711531	CAGE_peak_2_at_PSMA3_5end
chr14	58711539	58711627	CAGE_peak_1_at_PSMA3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I058242	58242808	58246401	2.23	[{'connected_gene': 'PSMA3', 'score': 550.77}, {'connected_gene': 'RNU6-341P', 'score': 12.61}, {'connected_gene': 'C14orf37', 'score': 12.6}, {'connected_gene': 'ARID4A', 'score': 12.6}, {'connected_gene': 'PSMA3-AS1', 'score': 9.04}, {'connected_gene': 'ENSG00000258682', 'score': 7.94}, {'connected_gene': 'TRK-CTT1-1', 'score': 0.77}, {'connected_gene': 'GC14P058110', 'score': 0.12}]
chr14	GH14I058260	58260120	58260720	0.24	[{'connected_gene': 'RNU6-341P', 'score': 11.7}, {'connected_gene': 'TOMM20L', 'score': 10.32}, {'connected_gene': 'ENSG00000258682', 'score': 0.77}, {'connected_gene': 'PSMA3', 'score': 0.37}, {'connected_gene': 'C14orf37', 'score': 0.28}]
chr14	GH14I058271	58271639	58273614	1.07	[{'connected_gene': 'PIR55001', 'score': 550.77}, {'connected_gene': 'ENSG00000258682', 'score': 8.15}, {'connected_gene': 'HMGB1P14', 'score': 0.39}, {'connected_gene': 'PSMA3', 'score': 0.31}, {'connected_gene': 'C14orf37', 'score': 0.31}, {'connected_gene': 'PSMA3-AS1', 'score': 0.31}]