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
ENST00000543740	[[104343979, 104345408], [104347191, 104347312], [104359293, 104359473]]	None
ENST00000378090	[[104343984, 104345408], [104350408, 104350526], [104350846, 104351042]]	[[104345300, 104345408], [104350408, 104350516]]
ENST00000547975	[[104344517, 104345408], [104347191, 104347312], [104350408, 104350526], [104350846, 104350959]]	[[104347240, 104347312], [104350408, 104350516]]
ENST00000549478	[[104344522, 104345408], [104350408, 104350968]]	[[104345300, 104345408], [104350408, 104350516]]
ENST00000553183	[[104345059, 104345408], [104350408, 104350526], [104359293, 104359486]]	[[104345300, 104345408], [104350408, 104350516]]
ENST00000549960	[[104345187, 104345408], [104347191, 104347312], [104348652, 104348746], [104350408, 104350526], [104350846, 104350912]]	[[104348692, 104348746], [104350408, 104350516]]
ENST00000547945	[[104345197, 104345408], [104350408, 104350526], [104350917, 104351051]]	[[104345300, 104345408], [104350408, 104350516]]
ENST00000552460	[[104345257, 104345408], [104347191, 104347312], [104348652, 104348746], [104349483, 104349549], [104350408, 104350516]]	[[104349543, 104349549], [104350408, 104350516]]
ENST00000552940	[[104345361, 104345408], [104347191, 104347312], [104350408, 104350925]]	[[104347240, 104347312], [104350408, 104350516]]
ENST00000546819	[[104348429, 104348746], [104350408, 104350526], [104350846, 104350993]]	[[104348692, 104348746], [104350408, 104350516]]
ENST00000546540	[[104350081, 104350526], [104350846, 104350991]]	[[104350375, 104350516]]
NM_001135570	[[104343979, 104345408], [104350408, 104350526], [104350846, 104350993]]	[[104345300, 104345408], [104350408, 104350516]]

Promoter

Chrom	Start	End	Description
chr12	104350684	104350726	CAGE_peak_3_at_C12orf73_5end
chr12	104350898	104351001	CAGE_peak_1_at_C12orf73_5end
chr12	104359438	104359450	CAGE_peak_4_at_C12orf73_5end
chr12	104359475	104359513	CAGE_peak_2_at_C12orf73_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I104048	104048486	104050947	1.72	[{'connected_gene': 'GLT8D2', 'score': 550.39}, {'connected_gene': 'TDG', 'score': 6.88}, {'connected_gene': 'C12orf73', 'score': 6.76}, {'connected_gene': 'ENSG00000257681', 'score': 5.61}, {'connected_gene': 'GC12M104037', 'score': 0.39}, {'connected_gene': 'PIR60229', 'score': 0.37}, {'connected_gene': 'GC12P104035', 'score': 0.37}, {'connected_gene': 'GC12M104050', 'score': 0.37}, {'connected_gene': 'GC12P104034', 'score': 0.37}, {'connected_gene': 'GC12P104033', 'score': 0.37}, {'connected_gene': 'GC12P104032', 'score': 0.37}, {'connected_gene': 'GC12P104022', 'score': 0.31}]
chr12	GH12I103997	103997422	103998059	0.59	[{'connected_gene': 'C12orf73', 'score': 9.69}, {'connected_gene': 'TDG', 'score': 6.05}, {'connected_gene': 'GC12P104022', 'score': 0.34}, {'connected_gene': 'GLT8D2', 'score': 0.2}]
chr12	GH12I104006	104006457	104007652	0.38	[{'connected_gene': 'C12orf73', 'score': 6.9}, {'connected_gene': 'GC12P104022', 'score': 0.37}, {'connected_gene': 'TDG', 'score': 0.26}, {'connected_gene': 'GLT8D2', 'score': 0.22}]
chr12	GH12I103994	103994034	103994997	0.2	[{'connected_gene': 'C12orf73', 'score': 7.78}, {'connected_gene': 'GC12P104022', 'score': 0.31}, {'connected_gene': 'TDG', 'score': 0.31}, {'connected_gene': 'GLT8D2', 'score': 0.2}]
chr12	GH12I103955	103955644	103958248	2.12	[{'connected_gene': 'C12orf73', 'score': 563.56}, {'connected_gene': 'TDG', 'score': 14.89}, {'connected_gene': 'TTC41P', 'score': 12.37}, {'connected_gene': 'HSP90B1', 'score': 12.37}, {'connected_gene': 'GC12P103942', 'score': 0.39}]
chr12	GH12I103986	103986443	103987552	0.2	[{'connected_gene': 'C12orf73', 'score': 11.71}, {'connected_gene': 'TDG', 'score': 8.9}, {'connected_gene': 'GC12P104022', 'score': 0.28}]
chr12	GH12I103848	103848965	103849602	0.58	[{'connected_gene': 'C12orf73', 'score': 8.41}, {'connected_gene': 'NT5DC3', 'score': 6.16}, {'connected_gene': 'ENSG00000257327', 'score': 0.44}, {'connected_gene': 'TTC41P', 'score': 0.18}, {'connected_gene': 'HSP90B1', 'score': 0.18}]
chr12	GH12I103968	103968836	103970167	0.59	[{'connected_gene': 'C12orf73', 'score': 13.22}, {'connected_gene': 'TTC41P', 'score': 10.96}, {'connected_gene': 'HSP90B1', 'score': 10.96}, {'connected_gene': 'TDG', 'score': 0.77}, {'connected_gene': 'GC12P104022', 'score': 0.23}]
chr12	GH12I103855	103855167	103856390	1.05	[{'connected_gene': 'C12orf73', 'score': 8.82}, {'connected_gene': 'ENSG00000257681', 'score': 5.62}, {'connected_gene': 'ENSG00000257327', 'score': 0.39}, {'connected_gene': 'TTC41P', 'score': 0.19}, {'connected_gene': 'HSP90B1', 'score': 0.19}]
chr12	GH12I103936	103936620	103936774	0.46	[{'connected_gene': 'TDG', 'score': 5.77}, {'connected_gene': 'C12orf73', 'score': 5.21}, {'connected_gene': 'HSP90B1', 'score': 0.44}, {'connected_gene': 'MIR3652', 'score': 0.44}, {'connected_gene': 'GC12P103942', 'score': 0.44}]
chr12	GH12I103964	103964391	103967512	2.11	[{'connected_gene': 'TDG', 'score': 600.16}, {'connected_gene': 'C12orf73', 'score': 563.48}, {'connected_gene': 'NFYB', 'score': 11.8}, {'connected_gene': 'TTC41P', 'score': 10.96}, {'connected_gene': 'HSP90B1', 'score': 10.96}, {'connected_gene': 'GC12P104022', 'score': 0.22}]
chr12	GH12I103858	103858152	103861135	1.56	[{'connected_gene': 'TDG', 'score': 21.63}, {'connected_gene': 'TTC41P', 'score': 11.58}, {'connected_gene': 'C12orf73', 'score': 10.39}, {'connected_gene': 'NT5DC3', 'score': 5.26}, {'connected_gene': 'ENSG00000257327', 'score': 0.37}, {'connected_gene': 'HSP90B1', 'score': 0.19}]
chr12	GH12I103839	103839921	103842672	2.24	[{'connected_gene': 'NT5DC3', 'score': 560.01}, {'connected_gene': 'ENSG00000257327', 'score': 550.77}, {'connected_gene': 'TDG', 'score': 30.95}, {'connected_gene': 'RPL18AP3', 'score': 10.93}, {'connected_gene': 'C12orf73', 'score': 7.89}, {'connected_gene': 'TTC41P', 'score': 7.35}]
chr12	GH12I103843	103843667	103845227	0.31	[{'connected_gene': 'NT5DC3', 'score': 9.81}, {'connected_gene': 'TTC41P', 'score': 9.03}, {'connected_gene': 'C12orf73', 'score': 5.1}, {'connected_gene': 'ENSG00000257327', 'score': 0.77}, {'connected_gene': 'HSP90B1', 'score': 0.17}]
chr12	GH12I104547	104547569	104548535	0.38	[{'connected_gene': 'CHST11', 'score': 11.04}, {'connected_gene': 'C12orf73', 'score': 10.99}, {'connected_gene': 'GC12M104547', 'score': 0.77}, {'connected_gene': 'ENSG00000279176', 'score': 0.77}, {'connected_gene': 'GC12P104532', 'score': 0.37}]
chr12	GH12I104456	104456006	104461975	2.23	[{'connected_gene': 'CHST11', 'score': 575.66}, {'connected_gene': 'C12orf73', 'score': 9.74}, {'connected_gene': 'GC12P104468', 'score': 0.44}]
chr12	GH12I104054	104054907	104055712	0.38	[{'connected_gene': 'NFYB', 'score': 11.22}, {'connected_gene': 'TDG', 'score': 11.09}, {'connected_gene': 'C12orf73', 'score': 6.0}, {'connected_gene': 'GC12M104037', 'score': 0.44}, {'connected_gene': 'GLT8D2', 'score': 0.44}, {'connected_gene': 'GC12M104050', 'score': 0.39}, {'connected_gene': 'PIR60229', 'score': 0.34}, {'connected_gene': 'GC12P104035', 'score': 0.34}, {'connected_gene': 'GC12P104034', 'score': 0.34}, {'connected_gene': 'GC12P104033', 'score': 0.34}, {'connected_gene': 'GC12P104032', 'score': 0.34}, {'connected_gene': 'GC12P104022', 'score': 0.29}]
chr12	GH12I103960	103960236	103961939	0.79	[{'connected_gene': 'TTC41P', 'score': 19.2}, {'connected_gene': 'C12orf73', 'score': 14.19}, {'connected_gene': 'HSP90B1', 'score': 12.35}, {'connected_gene': 'NT5DC3', 'score': 6.35}, {'connected_gene': 'GC12P103942', 'score': 0.37}]
chr12	GH12I103925	103925039	103925788	1.09	[{'connected_gene': 'TTC41P', 'score': 11.01}, {'connected_gene': 'C12orf73', 'score': 6.34}, {'connected_gene': 'HSP90B1', 'score': 0.77}, {'connected_gene': 'ENSG00000257327', 'score': 0.18}]
chr12	GH12I103884	103884383	103884532	0.56	[{'connected_gene': 'TTC41P', 'score': 11.76}, {'connected_gene': 'HSP90B1', 'score': 11.76}, {'connected_gene': 'C12orf73', 'score': 7.28}, {'connected_gene': 'ENSG00000257327', 'score': 0.26}]
chr12	GH12I103905	103905857	103906759	0.68	[{'connected_gene': 'TTC41P', 'score': 21.1}, {'connected_gene': 'HSP90B1', 'score': 11.77}, {'connected_gene': 'TDG', 'score': 10.89}, {'connected_gene': 'C12orf73', 'score': 6.84}, {'connected_gene': 'ENSG00000257327', 'score': 0.21}]
chr12	GH12I103879	103879888	103882020	0.81	[{'connected_gene': 'TTC41P', 'score': 25.26}, {'connected_gene': 'HSP90B1', 'score': 11.94}, {'connected_gene': 'NT5DC3', 'score': 11.09}, {'connected_gene': 'TDG', 'score': 10.91}, {'connected_gene': 'C12orf73', 'score': 4.8}, {'connected_gene': 'ENSG00000257327', 'score': 0.28}]
chr12	GH12I103927	103927133	103933562	2.3	[{'connected_gene': 'TTC41P', 'score': 561.01}, {'connected_gene': 'HSP90B1', 'score': 550.77}, {'connected_gene': 'MIR3652', 'score': 550.77}, {'connected_gene': 'GC12P103934', 'score': 550.77}, {'connected_gene': 'GC12P103932', 'score': 550.77}, {'connected_gene': 'TDG', 'score': 19.2}, {'connected_gene': 'RPL18AP3', 'score': 10.94}, {'connected_gene': 'C12orf73', 'score': 10.08}, {'connected_gene': 'NT5DC3', 'score': 6.31}, {'connected_gene': 'ENSG00000257681', 'score': 5.73}]
chr12	GH12I103867	103867700	103868936	0.51	[{'connected_gene': 'TTC41P', 'score': 13.49}, {'connected_gene': 'NT5DC3', 'score': 11.32}, {'connected_gene': 'ENSG00000212594', 'score': 9.43}, {'connected_gene': 'C12orf73', 'score': 6.78}, {'connected_gene': 'ENSG00000257681', 'score': 5.79}, {'connected_gene': 'ENSG00000257327', 'score': 0.31}, {'connected_gene': 'HSP90B1', 'score': 0.21}]
chr12	GH12I103900	103900690	103903765	0.31	[{'connected_gene': 'TTC41P', 'score': 21.87}, {'connected_gene': 'NT5DC3', 'score': 15.83}, {'connected_gene': 'HSP90B1', 'score': 11.36}, {'connected_gene': 'C12orf73', 'score': 6.84}, {'connected_gene': 'ENSG00000257327', 'score': 0.21}]
chr12	GH12I104063	104063204	104066012	2.06	[{'connected_gene': 'GC12M104037', 'score': 550.77}, {'connected_gene': 'GLT8D2', 'score': 550.77}, {'connected_gene': 'GC12M104050', 'score': 550.77}, {'connected_gene': 'HCFC2', 'score': 550.77}, {'connected_gene': 'NFYB', 'score': 15.84}, {'connected_gene': 'C12orf73', 'score': 6.09}]