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
ENST00000402574	[[220701567, 220702215], [220752695, 220752899], [220754406, 220754460], [220771672, 220771721], [220773139, 220773205], [220777408, 220777479], [220789280, 220789337], [220791651, 220791888], [220791977, 220792097], [220804376, 220804476], [220805542, 220805655], [220808717, 220808871], [220809174, 220809368], [220823961, 220824062], [220825327, 220825492], [220826442, 220826694], [220835153, 220837798]]	[[220773186, 220773205], [220777408, 220777479], [220789280, 220789337], [220791651, 220791888], [220791977, 220792097], [220804376, 220804476], [220805542, 220805655], [220808717, 220808871], [220809174, 220809368], [220823961, 220824062], [220825327, 220825492], [220826442, 220826694], [220835153, 220835508]]
ENST00000366918	[[220701567, 220702215], [220752695, 220752899], [220754406, 220754460], [220771672, 220771721], [220777408, 220777479], [220789280, 220789337], [220791651, 220791888], [220791977, 220792097], [220804376, 220804476], [220805542, 220805655], [220808717, 220808871], [220809174, 220809368], [220823961, 220824062], [220825327, 220825492], [220826442, 220826694], [220835153, 220837803]]	[[220702164, 220702215], [220752695, 220752899], [220754406, 220754460], [220771672, 220771721], [220777408, 220777479], [220789280, 220789337], [220791651, 220791888], [220791977, 220792097], [220804376, 220804476], [220805542, 220805655], [220808717, 220808871], [220809174, 220809368], [220823961, 220824062], [220825327, 220825492], [220826442, 220826694], [220835153, 220835508]]
ENST00000366917	[[220701898, 220702215], [220752695, 220752899], [220754406, 220754460], [220771672, 220771721], [220773139, 220773205], [220777408, 220777479], [220789280, 220789337], [220791651, 220791888], [220791977, 220792097], [220804376, 220804476], [220805542, 220805655], [220808717, 220808871], [220809174, 220809368], [220823961, 220824062], [220825327, 220825492], [220826442, 220826694], [220831131, 220831176], [220835153, 220835800]]	[[220702164, 220702215], [220752695, 220752899], [220754406, 220754460], [220771672, 220771721], [220773139, 220773205], [220777408, 220777479], [220789280, 220789337], [220791651, 220791888], [220791977, 220792097], [220804376, 220804476], [220805542, 220805655], [220808717, 220808871], [220809174, 220809368], [220823961, 220824062], [220825327, 220825492], [220826442, 220826694], [220831131, 220831176], [220835153, 220835508]]
ENST00000485104	[[220702191, 220702215], [220749987, 220750078], [220752695, 220752850]]	None
NM_001286129	[[220701524, 220702215], [220752695, 220752899], [220754406, 220756240]]	[[220702164, 220702215], [220752695, 220752899], [220754406, 220754472]]
NM_001286128	[[220701524, 220702215], [220752695, 220752899], [220754406, 220754460], [220771672, 220771721], [220777408, 220777479], [220789280, 220789337], [220791651, 220791888], [220791977, 220792097], [220804376, 220804476], [220805542, 220805655], [220808717, 220808871], [220809174, 220809368], [220823961, 220824062], [220825327, 220825492], [220826442, 220826694], [220835153, 220837799]]	[[220702164, 220702215], [220752695, 220752899], [220754406, 220754460], [220771672, 220771721], [220777408, 220777479], [220789280, 220789337], [220791651, 220791888], [220791977, 220792097], [220804376, 220804476], [220805542, 220805655], [220808717, 220808871], [220809174, 220809368], [220823961, 220824062], [220825327, 220825492], [220826442, 220826694], [220835153, 220835508]]
NM_001286126	[[220701524, 220702215], [220752695, 220752899], [220754406, 220754460], [220771672, 220771721], [220773139, 220773205], [220777408, 220777479], [220789280, 220789337], [220791651, 220791888], [220791977, 220792097], [220804376, 220804476], [220805542, 220805655], [220808717, 220808871], [220809174, 220809368], [220823961, 220824062], [220825327, 220825492], [220826442, 220826694], [220835153, 220837799]]	[[220702164, 220702215], [220752695, 220752899], [220754406, 220754460], [220771672, 220771721], [220773139, 220773205], [220777408, 220777479], [220789280, 220789337], [220791651, 220791888], [220791977, 220792097], [220804376, 220804476], [220805542, 220805655], [220808717, 220808871], [220809174, 220809368], [220823961, 220824062], [220825327, 220825492], [220826442, 220826694], [220835153, 220835508]]
NM_018650	[[220701524, 220702215], [220752695, 220752899], [220754406, 220754460], [220771672, 220771721], [220773139, 220773205], [220777408, 220777479], [220789280, 220789337], [220791651, 220791888], [220791977, 220792097], [220804376, 220804476], [220805542, 220805655], [220808717, 220808871], [220809174, 220809368], [220823961, 220824062], [220825327, 220825492], [220826442, 220826694], [220831131, 220831176], [220835153, 220837799]]	[[220702164, 220702215], [220752695, 220752899], [220754406, 220754460], [220771672, 220771721], [220773139, 220773205], [220777408, 220777479], [220789280, 220789337], [220791651, 220791888], [220791977, 220792097], [220804376, 220804476], [220805542, 220805655], [220808717, 220808871], [220809174, 220809368], [220823961, 220824062], [220825327, 220825492], [220826442, 220826694], [220831131, 220831176], [220835153, 220835508]]
NM_001286124	[[220701524, 220702215], [220752695, 220752899], [220754406, 220754460], [220771672, 220771721], [220773139, 220773205], [220777408, 220777479], [220789280, 220789337], [220791651, 220791888], [220791977, 220792097], [220804376, 220804476], [220805542, 220805655], [220808717, 220808871], [220809174, 220809368], [220823961, 220824062], [220825327, 220825492], [220826439, 220826694], [220831131, 220831176], [220835153, 220837799]]	[[220702164, 220702215], [220752695, 220752899], [220754406, 220754460], [220771672, 220771721], [220773139, 220773205], [220777408, 220777479], [220789280, 220789337], [220791651, 220791888], [220791977, 220792097], [220804376, 220804476], [220805542, 220805655], [220808717, 220808871], [220809174, 220809368], [220823961, 220824062], [220825327, 220825492], [220826439, 220826694], [220831131, 220831176], [220835153, 220835508]]

Promoter

Chrom	Start	End	Description
chr1	220701456	220701574	CAGE_peak_1_at_MARK1_5end
chr1	220701663	220701684	CAGE_peak_6_at_MARK1_5end
chr1	220701740	220701789	CAGE_peak_2_at_MARK1_5end
chr1	220702021	220702032	CAGE_peak_4_at_MARK1_5end
chr1	220702128	220702137	CAGE_peak_9_at_MARK1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I220514	220514795	220517324	0.2	[{'connected_gene': 'C1orf115', 'score': 9.11}, {'connected_gene': 'MARK1', 'score': 5.51}, {'connected_gene': 'LOC105372928', 'score': 0.31}]
chr1	GH01I220483	220483349	220485025	0.43	[{'connected_gene': 'MARK1', 'score': 6.79}, {'connected_gene': 'C1orf115', 'score': 4.08}, {'connected_gene': 'LOC105372929', 'score': 0.77}, {'connected_gene': 'PIR56189', 'score': 0.44}]
chr1	GH01I221283	221283628	221284474	0.82	[{'connected_gene': 'MARK1', 'score': 9.78}, {'connected_gene': 'C1orf140', 'score': 4.46}, {'connected_gene': 'GC01P221297', 'score': 0.39}, {'connected_gene': 'GC01M221267', 'score': 0.37}]
chr1	GH01I221393	221393295	221395440	1.31	[{'connected_gene': 'MARK1', 'score': 9.77}, {'connected_gene': 'PIR33032', 'score': 0.37}, {'connected_gene': 'GC01P221336', 'score': 0.22}, {'connected_gene': 'C1orf140', 'score': 0.22}]
chr1	GH01I220527	220527129	220530158	1.95	[{'connected_gene': 'MARK1', 'score': 550.77}, {'connected_gene': 'RAB3GAP2', 'score': 14.1}, {'connected_gene': 'RPS15AP12', 'score': 12.32}, {'connected_gene': 'C1orf115', 'score': 7.88}, {'connected_gene': 'GC01P220568', 'score': 0.28}]
chr1	GH01I220498	220498360	220498509	0.41	[{'connected_gene': 'MARK1', 'score': 1.87}, {'connected_gene': 'LOC105372928', 'score': 0.39}]
chr1	GH01I220511	220511259	220512528	0.57	[{'connected_gene': 'MARK1', 'score': 6.86}, {'connected_gene': 'LINC01352', 'score': 4.27}, {'connected_gene': 'LOC105372928', 'score': 0.34}]
chr1	GH01I220378	220378497	220379543	0.43	[{'connected_gene': 'MARK1', 'score': 4.46}, {'connected_gene': 'ENSG00000226927', 'score': 0.37}, {'connected_gene': 'ENSG00000260505', 'score': 0.34}]
chr1	GH01I220367	220367646	220371159	1.01	[{'connected_gene': 'MARK1', 'score': 5.07}, {'connected_gene': 'ENSG00000226927', 'score': 0.44}, {'connected_gene': 'ENSG00000260505', 'score': 0.29}, {'connected_gene': 'GC01P220287', 'score': 0.18}]