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
ENST00000548458	[[105629067, 105629134], [105720747, 105720841], [105742379, 105742404], [105759584, 105759620], [105760394, 105760474], [105761249, 105761287], [105764411, 105764958]]	None
ENST00000549893	[[105724487, 105724715], [105742379, 105742404], [105789409, 105789875]]	[[105724669, 105724715], [105742379, 105742404], [105789409, 105789485]]
ENST00000443585	[[105724413, 105724715], [105742379, 105742404], [105759584, 105759620], [105760394, 105760474], [105761249, 105761287], [105764411, 105765296]]	[[105724669, 105724715], [105742379, 105742404], [105759584, 105759620], [105760394, 105760474], [105761249, 105761254]]
ENST00000552457	[[105724451, 105724715], [105760394, 105760474], [105761249, 105761287], [105764411, 105764718]]	[[105724669, 105724715], [105760394, 105760474], [105761249, 105761264]]
ENST00000546866	[[105724630, 105724715], [105742379, 105742404], [105759584, 105760242]]	None
ENST00000549934	[[105724645, 105724715], [105742379, 105742404], [105759584, 105759620], [105760394, 105760474], [105761254, 105761287], [105764411, 105764458]]	[[105724669, 105724715], [105742379, 105742404], [105759584, 105759620], [105760394, 105760474], [105761254, 105761287], [105764411, 105764458]]
ENST00000548336	[[105747286, 105747364], [105759584, 105759620], [105760394, 105760474], [105761249, 105761287], [105764411, 105764981]]	None
NM_001145199	[[105724413, 105724715], [105742379, 105742404], [105759584, 105759620], [105760394, 105760474], [105761249, 105761287], [105764411, 105765296]]	[[105724669, 105724715], [105742379, 105742404], [105759584, 105759620], [105760394, 105760474], [105761249, 105761254]]

Promoter

Chrom	Start	End	Description
chr12	105724444	105724510	CAGE_peak_1_at_C12orf75_5end
chr12	105724535	105724548	CAGE_peak_3_at_C12orf75_5end
chr12	105724590	105724612	CAGE_peak_4_at_C12orf75_5end
chr12	105724613	105724666	CAGE_peak_2_at_C12orf75_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I105417	105417150	105421469	1.34	[{'connected_gene': 'NUAK1', 'score': 11.3}, {'connected_gene': 'LOC414300', 'score': 5.73}, {'connected_gene': 'C12orf75', 'score': 4.86}, {'connected_gene': 'LOC105369955', 'score': 0.77}, {'connected_gene': 'GC12M105372', 'score': 0.25}]
chr12	GH12I105277	105277698	105279182	0.43	[{'connected_gene': 'APPL2', 'score': 12.78}, {'connected_gene': 'C12orf75', 'score': 0.26}, {'connected_gene': 'KCCAT198', 'score': 0.25}]
chr12	GH12I105293	105293073	105295322	0.62	[{'connected_gene': 'APPL2', 'score': 11.97}, {'connected_gene': 'WASHC4', 'score': 6.26}, {'connected_gene': 'C12orf75', 'score': 4.49}, {'connected_gene': 'KCCAT198', 'score': 0.29}]
chr12	GH12I105203	105203953	105207022	0.51	[{'connected_gene': 'APPL2', 'score': 28.28}, {'connected_gene': 'WASHC4', 'score': 21.42}, {'connected_gene': 'C12orf75', 'score': 11.22}, {'connected_gene': 'GC12P105208', 'score': 0.77}, {'connected_gene': 'LOC105369953', 'score': 0.44}]
chr12	GH12I105225	105225577	105237077	2.68	[{'connected_gene': 'APPL2', 'score': 571.35}, {'connected_gene': 'WASHC4', 'score': 32.78}, {'connected_gene': 'C12orf75', 'score': 13.14}, {'connected_gene': 'PIR46520', 'score': 0.37}, {'connected_gene': 'GC12P105208', 'score': 0.34}]
chr12	GH12I105326	105326101	105337946	2.15	[{'connected_gene': 'C12orf75', 'score': 596.0}, {'connected_gene': 'APPL2', 'score': 16.31}, {'connected_gene': 'WASHC4', 'score': 10.35}, {'connected_gene': 'KCCAT198', 'score': 8.14}, {'connected_gene': 'LOC105369957', 'score': 0.26}]
chr12	GH12I105253	105253266	105258386	0.92	[{'connected_gene': 'C12orf75', 'score': 27.21}, {'connected_gene': 'APPL2', 'score': 22.84}, {'connected_gene': 'WASHC4', 'score': 20.35}, {'connected_gene': 'KCCAT198', 'score': 0.19}]
chr12	GH12I105358	105358801	105359200	0.72	[{'connected_gene': 'C12orf75', 'score': 10.4}, {'connected_gene': 'APPL2', 'score': 10.4}, {'connected_gene': 'LOC105369957', 'score': 0.39}, {'connected_gene': 'KCCAT198', 'score': 0.29}]
chr12	GH12I105279	105279583	105279635	0.52	[{'connected_gene': 'C12orf75', 'score': 0.26}, {'connected_gene': 'APPL2', 'score': 0.26}, {'connected_gene': 'KCCAT198', 'score': 0.25}]
chr12	GH12I105382	105382518	105383802	0.86	[{'connected_gene': 'C12orf75', 'score': 25.16}, {'connected_gene': 'APPL2', 'score': 11.25}, {'connected_gene': 'CASC18', 'score': 4.28}, {'connected_gene': 'LOC105369957', 'score': 0.39}, {'connected_gene': 'GC12M105372', 'score': 0.39}, {'connected_gene': 'LOC105369955', 'score': 0.26}]
chr12	GH12I105384	105384739	105385727	0.2	[{'connected_gene': 'C12orf75', 'score': 25.12}, {'connected_gene': 'APPL2', 'score': 11.25}, {'connected_gene': 'CASC18', 'score': 4.6}, {'connected_gene': 'LOC105369957', 'score': 0.39}, {'connected_gene': 'GC12M105372', 'score': 0.39}, {'connected_gene': 'LOC105369955', 'score': 0.28}]
chr12	GH12I105351	105351968	105352892	0.96	[{'connected_gene': 'C12orf75', 'score': 9.74}, {'connected_gene': 'LOC105369957', 'score': 0.37}, {'connected_gene': 'KCCAT198', 'score': 0.31}]
chr12	GH12I105322	105321552	105323042	0.86	[{'connected_gene': 'C12orf75', 'score': 17.87}, {'connected_gene': 'KCCAT198', 'score': 10.13}, {'connected_gene': 'APPL2', 'score': 1.47}]
chr12	GH12I105315	105315210	105319975	1.21	[{'connected_gene': 'C12orf75', 'score': 18.2}, {'connected_gene': 'KCCAT198', 'score': 9.4}, {'connected_gene': 'APPL2', 'score': 8.06}]
chr12	GH12I105369	105369123	105369272	0.2	[{'connected_gene': 'C12orf75', 'score': 28.62}, {'connected_gene': 'CASC18', 'score': 5.17}, {'connected_gene': 'LOC105369957', 'score': 0.77}, {'connected_gene': 'KCCAT198', 'score': 0.26}]
chr12	GH12I105091	105091407	105093186	1.02	[{'connected_gene': 'WASHC4', 'score': 32.36}, {'connected_gene': 'APPL2', 'score': 24.09}, {'connected_gene': 'C12orf75', 'score': 22.9}, {'connected_gene': 'ALDH1L2', 'score': 0.44}]
chr12	GH12I105218	105218292	105224820	0.99	[{'connected_gene': 'WASHC4', 'score': 34.44}, {'connected_gene': 'APPL2', 'score': 19.38}, {'connected_gene': 'C12orf75', 'score': 12.66}, {'connected_gene': 'PIR46520', 'score': 0.44}, {'connected_gene': 'GC12P105208', 'score': 0.39}]
chr12	GH12I105281	105281083	105281795	0.62	[{'connected_gene': 'WASHC4', 'score': 5.59}, {'connected_gene': 'C12orf75', 'score': 0.25}, {'connected_gene': 'APPL2', 'score': 0.25}, {'connected_gene': 'KCCAT198', 'score': 0.25}]
chr12	GH12I105082	105082971	105085026	2.08	[{'connected_gene': 'ALDH1L2', 'score': 554.33}, {'connected_gene': 'WASHC4', 'score': 31.48}, {'connected_gene': 'C12orf75', 'score': 6.05}, {'connected_gene': 'PIR40149', 'score': 0.22}]
chr12	GH12I105353	105353103	105353252	0.64	[{'connected_gene': 'LOC105369957', 'score': 0.37}, {'connected_gene': 'KCCAT198', 'score': 0.31}, {'connected_gene': 'C12orf75', 'score': 0.13}]
chr12	GH12I105356	105356931	105358114	0.89	[{'connected_gene': 'LOC105369957', 'score': 0.39}, {'connected_gene': 'KCCAT198', 'score': 0.29}, {'connected_gene': 'C12orf75', 'score': 0.13}]
chr12	GH12I105292	105292823	105292972	0.49	[{'connected_gene': 'KCCAT198', 'score': 0.29}, {'connected_gene': 'C12orf75', 'score': 0.22}, {'connected_gene': 'APPL2', 'score': 0.22}]
chr12	GH12I105321	105321243	105321392	0.63	[{'connected_gene': 'KCCAT198', 'score': 0.44}, {'connected_gene': 'C12orf75', 'score': 0.17}, {'connected_gene': 'APPL2', 'score': 0.17}]
chr12	GH12I105198	105198114	105200691	0.69	[{'connected_gene': 'LOC105369953', 'score': 550.77}, {'connected_gene': 'WASHC4', 'score': 31.64}, {'connected_gene': 'C12orf75', 'score': 11.18}, {'connected_gene': 'APPL2', 'score': 11.18}, {'connected_gene': 'GC12P105154', 'score': 0.26}]
chr12	GH12I105368	105368163	105368372	0.2	[{'connected_gene': 'CASC18', 'score': 5.18}, {'connected_gene': 'LOC105369957', 'score': 0.77}, {'connected_gene': 'KCCAT198', 'score': 0.26}, {'connected_gene': 'C12orf75', 'score': 0.12}]
chr12	GH12I105210	105210681	105217597	1.15	[{'connected_gene': 'PIR46520', 'score': 550.77}, {'connected_gene': 'WASHC4', 'score': 28.2}, {'connected_gene': 'APPL2', 'score': 25.62}, {'connected_gene': 'C12orf75', 'score': 12.01}, {'connected_gene': 'GC12P105208', 'score': 0.44}, {'connected_gene': 'LOC105369953', 'score': 0.39}]