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
ENST00000242576	[[109535378, 109535616], [109536236, 109536443], [109536993, 109537089], [109539706, 109539804], [109540643, 109540732], [109541237, 109541416], [109547633, 109548797]]	[[109535484, 109535616], [109536236, 109536443], [109536993, 109537089], [109539706, 109539804], [109540643, 109540732], [109541237, 109541416], [109547633, 109547774]]
ENST00000540158	[[109535483, 109535616], [109536236, 109536443], [109536993, 109537151]]	None
ENST00000336865	[[109535922, 109536443], [109536993, 109537089], [109539706, 109539804], [109540643, 109540732], [109541237, 109541416], [109547633, 109548780]]	[[109536131, 109536443], [109536993, 109537089], [109539706, 109539804], [109540643, 109540732], [109541237, 109541416], [109547633, 109547774]]
ENST00000539287	[[109535952, 109536443], [109536993, 109537089], [109539706, 109539804], [109540643, 109540732], [109541237, 109541416], [109542900, 109543020], [109547636, 109548797]]	[[109536131, 109536443], [109536993, 109537089], [109539706, 109539804], [109540643, 109540732], [109541237, 109541416], [109542900, 109542903]]
ENST00000446767	[[109535955, 109536443], [109536993, 109537089], [109540643, 109540732], [109541237, 109541416], [109547633, 109548797]]	[[109536131, 109536443], [109536993, 109537089], [109540643, 109540661]]
NM_080911	[[109535398, 109535616], [109536236, 109536443], [109536993, 109537089], [109539706, 109539804], [109540643, 109540732], [109541237, 109541416], [109547633, 109548798]]	[[109535484, 109535616], [109536236, 109536443], [109536993, 109537089], [109539706, 109539804], [109540643, 109540732], [109541237, 109541416], [109547633, 109547774]]
NM_003362	[[109535922, 109536443], [109536993, 109537089], [109539706, 109539804], [109540643, 109540732], [109541237, 109541416], [109547633, 109548798]]	[[109536131, 109536443], [109536993, 109537089], [109539706, 109539804], [109540643, 109540732], [109541237, 109541416], [109547633, 109547774]]

Promoter

Chrom	Start	End	Description
chr12	109535373	109535414	CAGE_peak_1_at_UNG_5end
chr12	109535416	109535439	CAGE_peak_3_at_UNG_5end
chr12	109535947	109536024	CAGE_peak_2_at_UNG_5end
chr12	109536223	109536234	CAGE_peak_7_at_UNG_5end
chr12	109536322	109536334	CAGE_peak_5_at_UNG_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I109096	109096979	109100396	2.2	[{'connected_gene': 'UNG', 'score': 557.7}, {'connected_gene': 'WSCD2', 'score': 15.07}, {'connected_gene': 'ACACB', 'score': 13.99}, {'connected_gene': 'RNU4-32P', 'score': 10.99}, {'connected_gene': 'SART3', 'score': 10.51}, {'connected_gene': 'UBE3B', 'score': 10.1}, {'connected_gene': 'MYO1H', 'score': 9.02}, {'connected_gene': 'GC12M109089', 'score': 0.39}, {'connected_gene': 'GC12P109058', 'score': 0.26}, {'connected_gene': 'GC12P109057', 'score': 0.26}]
chr12	GH12I109121	109121066	109122715	0.38	[{'connected_gene': 'UNG', 'score': 16.06}, {'connected_gene': 'ALKBH2', 'score': 11.5}, {'connected_gene': 'MYO1H', 'score': 9.94}, {'connected_gene': 'TRPV4', 'score': 9.01}, {'connected_gene': 'ACACB', 'score': 6.18}, {'connected_gene': 'LOC105369974', 'score': 0.44}, {'connected_gene': 'ENSG00000256139', 'score': 0.39}, {'connected_gene': 'GC12P109058', 'score': 0.21}, {'connected_gene': 'GC12P109057', 'score': 0.21}]
chr12	GH12I109109	109109376	109117842	2.21	[{'connected_gene': 'ACACB', 'score': 16.36}, {'connected_gene': 'MYO1H', 'score': 10.03}, {'connected_gene': 'ALKBH2', 'score': 8.32}, {'connected_gene': 'UNG', 'score': 6.91}, {'connected_gene': 'DAO', 'score': 1.44}, {'connected_gene': 'GC12M109089', 'score': 0.77}, {'connected_gene': 'ENSG00000256139', 'score': 0.77}, {'connected_gene': 'LOC105369974', 'score': 0.37}, {'connected_gene': 'GC12P109058', 'score': 0.22}, {'connected_gene': 'GC12P109057', 'score': 0.22}]
chr12	GH12I109142	109142724	109144062	0.2	[{'connected_gene': 'ACACB', 'score': 10.36}, {'connected_gene': 'MYO1H', 'score': 10.29}, {'connected_gene': 'ALKBH2', 'score': 6.97}, {'connected_gene': 'UNG', 'score': 4.7}, {'connected_gene': 'GC12M109152', 'score': 0.39}, {'connected_gene': 'LOC105369974', 'score': 0.39}, {'connected_gene': 'GC12P109058', 'score': 0.17}, {'connected_gene': 'GC12P109057', 'score': 0.17}]
chr12	GH12I109137	109137156	109137305	0.51	[{'connected_gene': 'MYO1H', 'score': 10.85}, {'connected_gene': 'UNG', 'score': 10.41}, {'connected_gene': 'ALKBH2', 'score': 10.4}, {'connected_gene': 'LOC105369974', 'score': 0.44}, {'connected_gene': 'GC12M109152', 'score': 0.37}, {'connected_gene': 'ACACB', 'score': 0.31}, {'connected_gene': 'GC12P109058', 'score': 0.18}, {'connected_gene': 'GC12P109057', 'score': 0.18}]
chr12	GH12I109101	109101284	109101726	0.2	[{'connected_gene': 'MYO1H', 'score': 9.47}, {'connected_gene': 'ENSG00000255655', 'score': 8.85}, {'connected_gene': 'UNG', 'score': 0.77}, {'connected_gene': 'GC12M109089', 'score': 0.44}, {'connected_gene': 'GC12P109058', 'score': 0.26}, {'connected_gene': 'GC12P109057', 'score': 0.26}]
chr12	GH12I109102	109102136	109102325	0.4	[{'connected_gene': 'MYO1H', 'score': 9.47}, {'connected_gene': 'ENSG00000255655', 'score': 8.85}, {'connected_gene': 'UNG', 'score': 0.77}, {'connected_gene': 'GC12M109089', 'score': 0.44}, {'connected_gene': 'GC12P109058', 'score': 0.26}, {'connected_gene': 'GC12P109057', 'score': 0.25}]
chr12	GH12I109103	109103062	109103534	0.2	[{'connected_gene': 'MYO1H', 'score': 9.47}, {'connected_gene': 'ENSG00000255655', 'score': 8.85}, {'connected_gene': 'UNG', 'score': 0.44}, {'connected_gene': 'GC12M109089', 'score': 0.44}, {'connected_gene': 'GC12P109058', 'score': 0.25}, {'connected_gene': 'GC12P109057', 'score': 0.25}]
chr12	GH12I108301	108301778	108309474	1.52	[{'connected_gene': 'CMKLR1', 'score': 16.99}, {'connected_gene': 'SART3', 'score': 11.38}, {'connected_gene': 'LINC01498', 'score': 10.33}, {'connected_gene': 'FICD', 'score': 10.32}, {'connected_gene': 'ENSG00000257398', 'score': 4.45}, {'connected_gene': 'BTBD11', 'score': 4.36}, {'connected_gene': 'UNG', 'score': 4.34}, {'connected_gene': 'CORO1C', 'score': 2.2}, {'connected_gene': 'SELPLG', 'score': 2.2}, {'connected_gene': 'GC12M108289', 'score': 0.37}, {'connected_gene': 'GC12M108318', 'score': 0.31}]
chr12	GH12I109123	109123763	109126647	0.46	[{'connected_gene': 'ALKBH2', 'score': 20.74}, {'connected_gene': 'UNG', 'score': 17.16}, {'connected_gene': 'ACACB', 'score': 11.3}, {'connected_gene': 'MYO1H', 'score': 9.94}, {'connected_gene': 'TRPV4', 'score': 9.01}, {'connected_gene': 'LOC105369974', 'score': 0.44}, {'connected_gene': 'ENSG00000256139', 'score': 0.39}, {'connected_gene': 'GC12P109058', 'score': 0.2}, {'connected_gene': 'GC12P109057', 'score': 0.2}]
chr12	GH12I109126	109126876	109127025	0.66	[{'connected_gene': 'ALKBH2', 'score': 17.47}, {'connected_gene': 'UNG', 'score': 11.5}, {'connected_gene': 'MYO1H', 'score': 9.94}, {'connected_gene': 'TRPV4', 'score': 9.01}, {'connected_gene': 'ACACB', 'score': 7.99}, {'connected_gene': 'LOC105369974', 'score': 0.77}, {'connected_gene': 'ENSG00000256139', 'score': 0.37}, {'connected_gene': 'GC12P109058', 'score': 0.2}, {'connected_gene': 'GC12P109057', 'score': 0.2}]
chr12	GH12I109191	109191485	109195279	0.63	[{'connected_gene': 'ALKBH2', 'score': 14.68}, {'connected_gene': 'ACACB', 'score': 11.88}, {'connected_gene': 'ENSG00000255655', 'score': 10.73}, {'connected_gene': 'UNG', 'score': 10.6}, {'connected_gene': 'TRPV4', 'score': 5.75}, {'connected_gene': 'GC12M109174', 'score': 0.37}, {'connected_gene': 'PIR49936', 'score': 0.25}, {'connected_gene': 'GC12P109057', 'score': 0.12}]
chr12	GH12I109130	109130149	109133544	1.32	[{'connected_gene': 'LOC105369974', 'score': 550.77}, {'connected_gene': 'ALKBH2', 'score': 17.48}, {'connected_gene': 'ACACB', 'score': 15.71}, {'connected_gene': 'UNG', 'score': 11.48}, {'connected_gene': 'MYO1H', 'score': 10.06}, {'connected_gene': 'TRPV4', 'score': 9.01}, {'connected_gene': 'ENSG00000256139', 'score': 0.34}, {'connected_gene': 'GC12P109058', 'score': 0.19}, {'connected_gene': 'GC12P109057', 'score': 0.19}]