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
ENST00000339992	[[124907637, 124908162], [124909085, 124910188]]	[[124907894, 124908162], [124909085, 124909639]]
NM_005519	[[124907637, 124908162], [124909085, 124910188]]	[[124907894, 124908162], [124909085, 124909639]]

Promoter

Chrom	Start	End	Description
chr10	124907645	124907660	CAGE_peak_1_at_HMX2_5end
chr10	124907798	124907817	CAGE_peak_3_at_HMX2_5end
chr10	124907828	124907837	CAGE_peak_6_at_HMX2_5end
chr10	124907876	124907888	CAGE_peak_5_at_HMX2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I123150	123150621	123151989	0.83	[{'connected_gene': 'BUB3', 'score': 0.77}, {'connected_gene': 'HMX2', 'score': 0.44}, {'connected_gene': 'GC10P123103', 'score': 0.25}]
chr10	GH10I123139	123138499	123140149	0.95	[{'connected_gene': 'IKZF5', 'score': 10.01}, {'connected_gene': 'ACADSB', 'score': 10.01}, {'connected_gene': 'HMX2', 'score': 0.77}, {'connected_gene': 'HMX3', 'score': 0.77}, {'connected_gene': 'GC10P123103', 'score': 0.28}]
chr10	GH10I123138	123137745	123137894	0.54	[{'connected_gene': 'HMX3', 'score': 550.77}, {'connected_gene': 'HMX2', 'score': 0.77}, {'connected_gene': 'GC10P123103', 'score': 0.29}]
chr10	GH10I123136	123136487	123137432	0.59	[{'connected_gene': 'HMX3', 'score': 550.77}, {'connected_gene': 'HMX2', 'score': 0.44}, {'connected_gene': 'GC10P123103', 'score': 0.29}]
chr10	GH10I123147	123147327	123150316	1.4	[{'connected_gene': 'HMX2', 'score': 550.44}, {'connected_gene': 'BUB3', 'score': 0.44}, {'connected_gene': 'GC10P123103', 'score': 0.25}]
chr10	GH10I123143	123143411	123145234	0.77	[{'connected_gene': 'HMX2', 'score': 550.77}, {'connected_gene': 'BUB3', 'score': 0.44}, {'connected_gene': 'GC10P123103', 'score': 0.26}]
chr10	GH10I123140	123140425	123140574	0.56	[{'connected_gene': 'HMX2', 'score': 550.77}, {'connected_gene': 'HMX3', 'score': 0.77}, {'connected_gene': 'GC10P123103', 'score': 0.28}]