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
ENST00000298699	[[88373815, 88374133], [88376879, 88376972], [88379626, 88379830], [88380088, 88380193], [88381626, 88381743], [88383040, 88383148], [88388409, 88388520], [88390150, 88390264], [88390345, 88390423], [88391811, 88391967], [88420264, 88420385], [88420727, 88420847], [88423116, 88423189]]	[[88374107, 88374133], [88376879, 88376972], [88379626, 88379830], [88380088, 88380193], [88381626, 88381743], [88383040, 88383148], [88388409, 88388520], [88390150, 88390264], [88390345, 88390423], [88391811, 88391967], [88420264, 88420385], [88420727, 88420739]]
ENST00000550553	[[88373898, 88374133], [88376879, 88376972], [88379626, 88379830], [88380088, 88380193], [88383040, 88383148], [88388409, 88388520], [88390150, 88390264], [88390345, 88390423], [88391811, 88391967], [88420264, 88420385], [88420727, 88420847], [88423116, 88423196]]	[[88374107, 88374133], [88376879, 88376972], [88379626, 88379830], [88380088, 88380193], [88383040, 88383148], [88388409, 88388520], [88390150, 88390264], [88390345, 88390423], [88391811, 88391967], [88420264, 88420385], [88420727, 88420739]]
ENST00000551944	[[88377157, 88379830], [88380088, 88380193], [88383040, 88383148], [88388409, 88388520], [88390150, 88390264], [88390345, 88390423], [88391811, 88391967], [88420264, 88420385], [88420727, 88420847], [88422843, 88423146]]	None
ENST00000551163	[[88391811, 88391967], [88420264, 88420385], [88420727, 88420847], [88421540, 88421740]]	[[88391811, 88391967], [88420264, 88420385], [88420727, 88420739]]
ENST00000546547	[[88420797, 88420847], [88423954, 88424014], [88426936, 88427814]]	None
NM_152589	[[88373815, 88374133], [88376879, 88376972], [88379626, 88379830], [88380088, 88380193], [88381626, 88381743], [88383040, 88383148], [88388409, 88388520], [88390150, 88390264], [88390345, 88390423], [88391811, 88391967], [88420264, 88420385], [88420727, 88420847], [88423116, 88423176]]	[[88374107, 88374133], [88376879, 88376972], [88379626, 88379830], [88380088, 88380193], [88381626, 88381743], [88383040, 88383148], [88388409, 88388520], [88390150, 88390264], [88390345, 88390423], [88391811, 88391967], [88420264, 88420385], [88420727, 88420739]]

Promoter

Chrom	Start	End	Description
chr12	88423139	88423155	CAGE_peak_2_at_C12orf50_5end
chr12	88423164	88423182	CAGE_peak_1_at_C12orf50_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I088034	88034807	88037225	2.02	[{'connected_gene': 'C12orf50', 'score': 550.77}, {'connected_gene': 'C12orf29', 'score': 550.77}, {'connected_gene': 'CEP290', 'score': 16.82}, {'connected_gene': 'TMTC3', 'score': 9.13}, {'connected_gene': 'RNA5SP364', 'score': 0.37}]
chr12	GH12I088029	88029359	88029418	0.68	[{'connected_gene': 'C12orf50', 'score': 550.44}, {'connected_gene': 'C12orf29', 'score': 0.77}, {'connected_gene': 'GC12M087998', 'score': 0.31}]