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
ENST00000327876	[[47743719, 47748947], [47797079, 47798078]]	[[47748045, 47748947], [47797079, 47797470]]
ENST00000493527	[[47770482, 47770940], [47797079, 47797454]]	None
NM_022055	[[47747913, 47748947], [47797079, 47797470]]	[[47748045, 47748947], [47797079, 47797470]]

Promoter

Chrom	Start	End	Description
chr2	47798044	47798132	CAGE_peak_1_at_KCNK12_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I047563	47563418	47563619	0.28	[{'connected_gene': 'HCG2040054', 'score': 10.86}, {'connected_gene': 'KCNK12', 'score': 7.54}, {'connected_gene': 'MSH2', 'score': 5.51}, {'connected_gene': 'PIR54322', 'score': 0.37}]
chr2	GH02I047568	47568303	47568312	0.54	[{'connected_gene': 'KCNK12', 'score': 3.54}, {'connected_gene': 'MSH2', 'score': 1.78}, {'connected_gene': 'MSH6', 'score': 1.26}, {'connected_gene': 'FBXO11', 'score': 1.16}, {'connected_gene': 'PIR54322', 'score': 0.34}]
chr2	GH02I047569	47569331	47572536	1.65	[{'connected_gene': 'KCNK12', 'score': 550.77}, {'connected_gene': 'PPP1R21', 'score': 4.43}, {'connected_gene': 'PIR54322', 'score': 0.34}]
chr2	GH02I047533	47533910	47535090	1.03	[{'connected_gene': 'MSH2', 'score': 27.51}, {'connected_gene': 'HCG2040054', 'score': 0.44}, {'connected_gene': 'PIR54322', 'score': 0.39}, {'connected_gene': 'KCNK12', 'score': 0.28}]
chr2	GH02I047663	47662642	47662791	0.43	[{'connected_gene': 'GC02P047676', 'score': 0.39}, {'connected_gene': 'KCNK12', 'score': 0.16}]
chr2	GH02I047631	47631753	47632731	0.65	[{'connected_gene': 'GC02P047676', 'score': 0.26}, {'connected_gene': 'KCNK12', 'score': 0.21}]
chr2	GH02I047662	47662422	47662571	0.38	[{'connected_gene': 'GC02P047676', 'score': 0.39}, {'connected_gene': 'KCNK12', 'score': 0.16}]
chr2	GH02I047633	47633529	47634223	0.2	[{'connected_gene': 'GC02P047676', 'score': 0.26}, {'connected_gene': 'KCNK12', 'score': 0.21}]
chr2	GH02I047520	47520201	47522000	1.02	[{'connected_gene': 'GC02P047523', 'score': 550.77}, {'connected_gene': 'PIR36168', 'score': 550.77}, {'connected_gene': 'MSH2', 'score': 10.19}, {'connected_gene': 'KCNK12', 'score': 0.25}]
chr2	GH02I047654	47654863	47655741	0.77	[{'connected_gene': 'ENSG00000228925', 'score': 13.91}, {'connected_gene': 'MSH6', 'score': 13.68}, {'connected_gene': 'SOCS5', 'score': 12.24}, {'connected_gene': 'STON1', 'score': 11.7}, {'connected_gene': 'KCNK12', 'score': 8.73}, {'connected_gene': 'HCG2040054', 'score': 5.67}, {'connected_gene': 'GC02P047676', 'score': 0.34}]
chr2	GH02I047297	47297804	47301511	1.54	[{'connected_gene': 'PIR58315', 'score': 550.77}, {'connected_gene': 'LOC101927043', 'score': 19.56}, {'connected_gene': 'ENSG00000228925', 'score': 13.94}, {'connected_gene': 'MSH6', 'score': 13.47}, {'connected_gene': 'SOCS5', 'score': 12.24}, {'connected_gene': 'CALM2', 'score': 10.79}, {'connected_gene': 'EPCAM', 'score': 10.79}, {'connected_gene': 'MIR559', 'score': 10.64}, {'connected_gene': 'KCNK12', 'score': 3.71}, {'connected_gene': 'PIR36995', 'score': 0.37}]