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
ENST00000334534	[[10415950, 10416101], [10438823, 10438879], [10536878, 10536968], [10541347, 10541468], [10579322, 10579400], [10582378, 10582467], [10601961, 10602062], [10603306, 10604027]]	[[10438852, 10438879], [10536878, 10536968], [10541347, 10541468], [10579322, 10579400], [10582378, 10582467], [10601961, 10602062], [10603306, 10604027]]
ENST00000488816	[[10579322, 10579400], [10582378, 10582467], [10616943, 10617086], [10617190, 10617477]]	[[10579322, 10579400], [10582378, 10582467], [10616943, 10617012]]
NM_001009608	[[10415950, 10416101], [10438823, 10438879], [10536878, 10536968], [10541347, 10541468], [10579322, 10579400], [10582378, 10582467], [10601961, 10602062], [10603306, 10608682]]	[[10438852, 10438879], [10536878, 10536968], [10541347, 10541468], [10579322, 10579400], [10582378, 10582467], [10601961, 10602062], [10603306, 10604027]]

Promoter

Chrom	Start	End	Description
chr20	10415931	10416011	CAGE_peak_1_at_C20orf94_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I010536	10536593	10537000	0.99	[{'connected_gene': 'MKKS', 'score': 11.2}, {'connected_gene': 'SLX4IP', 'score': 11.2}, {'connected_gene': 'JAG1', 'score': 10.77}, {'connected_gene': 'GC20P010506', 'score': 0.29}, {'connected_gene': 'LOC100421490', 'score': 0.18}]
chr20	GH20I010520	10520198	10522020	0.83	[{'connected_gene': 'MKKS', 'score': 11.34}, {'connected_gene': 'SLX4IP', 'score': 11.34}, {'connected_gene': 'JAG1', 'score': 10.34}, {'connected_gene': 'GC20P010506', 'score': 0.37}, {'connected_gene': 'LOC100421490', 'score': 0.16}]
chr20	GH20I010515	10515545	10516248	0.2	[{'connected_gene': 'MKKS', 'score': 11.35}, {'connected_gene': 'SLX4IP', 'score': 11.35}, {'connected_gene': 'JAG1', 'score': 10.34}, {'connected_gene': 'GC20P010506', 'score': 0.44}, {'connected_gene': 'LOC100421490', 'score': 0.15}]
chr20	GH20I010489	10489601	10490000	0.31	[{'connected_gene': 'MKKS', 'score': 10.89}, {'connected_gene': 'SLX4IP', 'score': 10.89}, {'connected_gene': 'JAG1', 'score': 10.55}, {'connected_gene': 'GC20P010506', 'score': 0.37}]
chr20	GH20I010465	10465530	10470200	0.89	[{'connected_gene': 'MKKS', 'score': 19.57}, {'connected_gene': 'SLX4IP', 'score': 11.27}, {'connected_gene': 'JAG1', 'score': 10.63}, {'connected_gene': 'GC20P010506', 'score': 0.28}]
chr20	GH20I010539	10539388	10542465	1.33	[{'connected_gene': 'MKKS', 'score': 11.13}, {'connected_gene': 'SLX4IP', 'score': 11.13}, {'connected_gene': 'GC20P010506', 'score': 0.29}, {'connected_gene': 'LOC100421490', 'score': 0.19}]
chr20	GH20I010432	10432820	10436325	2.28	[{'connected_gene': 'MKKS', 'score': 567.65}, {'connected_gene': 'SLX4IP', 'score': 550.77}, {'connected_gene': 'LOC100421490', 'score': 19.34}, {'connected_gene': 'GC20P010506', 'score': 0.19}]
chr20	GH20I010537	10537533	10538570	0.58	[{'connected_gene': 'MKKS', 'score': 11.13}, {'connected_gene': 'SLX4IP', 'score': 11.13}, {'connected_gene': 'GC20P010506', 'score': 0.29}, {'connected_gene': 'LOC100421490', 'score': 0.18}]
chr20	GH20I010490	10490323	10491462	0.96	[{'connected_gene': 'MKKS', 'score': 10.89}, {'connected_gene': 'SLX4IP', 'score': 10.89}, {'connected_gene': 'GC20P010506', 'score': 0.37}]
chr20	GH20I010446	10446439	10447858	1.24	[{'connected_gene': 'MKKS', 'score': 9.99}, {'connected_gene': 'SLX4IP', 'score': 0.39}, {'connected_gene': 'GC20P010506', 'score': 0.22}]
chr20	GH20I010492	10492001	10492452	0.84	[{'connected_gene': 'MKKS', 'score': 10.89}, {'connected_gene': 'SLX4IP', 'score': 10.89}, {'connected_gene': 'GC20P010506', 'score': 0.39}]
chr20	GH20I010452	10452927	10454629	0.89	[{'connected_gene': 'MKKS', 'score': 8.56}, {'connected_gene': 'SLX4IP', 'score': 0.37}, {'connected_gene': 'GC20P010506', 'score': 0.23}]
chr20	GH20I010571	10571006	10572386	0.2	[{'connected_gene': 'SNAP25', 'score': 4.59}, {'connected_gene': 'LOC100421490', 'score': 0.26}, {'connected_gene': 'GC20P010506', 'score': 0.2}, {'connected_gene': 'SLX4IP', 'score': 0.12}]
chr20	GH20I010555	10555616	10560238	1.31	[{'connected_gene': 'JAG1', 'score': 10.89}, {'connected_gene': 'MKKS', 'score': 4.78}, {'connected_gene': 'SNAP25', 'score': 4.55}, {'connected_gene': 'GC20P010506', 'score': 0.23}, {'connected_gene': 'LOC100421490', 'score': 0.22}, {'connected_gene': 'SLX4IP', 'score': 0.13}]
chr20	GH20I010552	10552001	10553082	1.04	[{'connected_gene': 'JAG1', 'score': 10.79}, {'connected_gene': 'MKKS', 'score': 10.63}, {'connected_gene': 'SLX4IP', 'score': 10.63}, {'connected_gene': 'GC20P010506', 'score': 0.25}, {'connected_gene': 'LOC100421490', 'score': 0.21}]
chr20	GH20I010513	10513601	10514800	0.57	[{'connected_gene': 'JAG1', 'score': 10.54}, {'connected_gene': 'MKKS', 'score': 10.51}, {'connected_gene': 'SLX4IP', 'score': 10.51}, {'connected_gene': 'GC20P010506', 'score': 0.44}, {'connected_gene': 'LOC100421490', 'score': 0.15}]
chr20	GH20I010470	10470375	10470642	0.52	[{'connected_gene': 'JAG1', 'score': 10.54}, {'connected_gene': 'MKKS', 'score': 8.22}, {'connected_gene': 'GC20P010506', 'score': 0.28}, {'connected_gene': 'SLX4IP', 'score': 0.28}]
chr20	GH20I010632	10632620	10641197	1.05	[{'connected_gene': 'JAG1', 'score': 11.2}, {'connected_gene': 'SLX4IP', 'score': 6.44}, {'connected_gene': 'MIR6870', 'score': 0.39}, {'connected_gene': 'PIR47988', 'score': 0.39}]
chr20	GH20I010507	10507997	10512599	1.54	[{'connected_gene': 'JAG1', 'score': 10.44}, {'connected_gene': 'GC20P010506', 'score': 0.77}, {'connected_gene': 'SLX4IP', 'score': 0.18}, {'connected_gene': 'LOC100421490', 'score': 0.15}]
chr20	GH20I010488	10487193	10487342	0.2	[{'connected_gene': 'JAG1', 'score': 10.54}, {'connected_gene': 'GC20P010506', 'score': 0.37}, {'connected_gene': 'SLX4IP', 'score': 0.23}]
chr20	GH20I010500	10500802	10503199	0.98	[{'connected_gene': 'JAG1', 'score': 10.43}, {'connected_gene': 'GC20P010506', 'score': 0.77}, {'connected_gene': 'SLX4IP', 'score': 0.2}]
chr20	GH20I010487	10487400	10489200	0.84	[{'connected_gene': 'JAG1', 'score': 10.54}, {'connected_gene': 'GC20P010506', 'score': 0.37}, {'connected_gene': 'SLX4IP', 'score': 0.23}]
chr20	GH20I010474	10474002	10477142	1.32	[{'connected_gene': 'JAG1', 'score': 10.69}, {'connected_gene': 'GC20P010506', 'score': 0.29}, {'connected_gene': 'SLX4IP', 'score': 0.26}]
chr20	GH20I010564	10564889	10567510	1.34	[{'connected_gene': 'JAG1', 'score': 10.91}, {'connected_gene': 'LOC100421490', 'score': 0.25}, {'connected_gene': 'GC20P010506', 'score': 0.21}, {'connected_gene': 'SLX4IP', 'score': 0.12}]
chr20	GH20I010590	10590585	10595609	1.33	[{'connected_gene': 'JAG1', 'score': 10.62}, {'connected_gene': 'LOC100421490', 'score': 0.34}, {'connected_gene': 'GC20P010506', 'score': 0.17}, {'connected_gene': 'SLX4IP', 'score': 0.1}]
chr20	GH20I010596	10596103	10599769	1.27	[{'connected_gene': 'JAG1', 'score': 10.2}, {'connected_gene': 'LOC100421490', 'score': 0.37}, {'connected_gene': 'GC20P010506', 'score': 0.16}, {'connected_gene': 'SLX4IP', 'score': 0.1}]
chr20	GH20I010553	10553400	10553801	1.19	[{'connected_gene': 'JAG1', 'score': 10.79}, {'connected_gene': 'GC20P010506', 'score': 0.25}, {'connected_gene': 'LOC100421490', 'score': 0.21}, {'connected_gene': 'SLX4IP', 'score': 0.13}]
chr20	GH20I010518	10518769	10520051	0.38	[{'connected_gene': 'SLX4IP', 'score': 11.35}, {'connected_gene': 'MKKS', 'score': 11.34}, {'connected_gene': 'JAG1', 'score': 10.34}, {'connected_gene': 'GC20P010506', 'score': 0.39}, {'connected_gene': 'LOC100421490', 'score': 0.16}]
chr20	GH20I010523	10523598	10525393	0.88	[{'connected_gene': 'SLX4IP', 'score': 11.34}, {'connected_gene': 'MKKS', 'score': 11.33}, {'connected_gene': 'JAG1', 'score': 10.37}, {'connected_gene': 'GC20P010506', 'score': 0.37}, {'connected_gene': 'LOC100421490', 'score': 0.17}]
chr20	GH20I010442	10442108	10442167	0.5	[{'connected_gene': 'SLX4IP', 'score': 550.44}, {'connected_gene': 'GC20P010506', 'score': 0.21}]
chr20	GH20I010613	10613601	10614199	0.4	[{'connected_gene': 'LOC100421490', 'score': 550.77}, {'connected_gene': 'JAG1', 'score': 10.78}, {'connected_gene': 'GC20P010506', 'score': 0.14}, {'connected_gene': 'SLX4IP', 'score': 0.1}]
chr20	GH20I010584	10584078	10584740	0.38	[{'connected_gene': 'LOC100421490', 'score': 0.31}, {'connected_gene': 'GC20P010506', 'score': 0.18}, {'connected_gene': 'SLX4IP', 'score': 0.11}]
chr20	GH20I010576	10576118	10577139	0.2	[{'connected_gene': 'LOC100421490', 'score': 0.28}, {'connected_gene': 'GC20P010506', 'score': 0.19}, {'connected_gene': 'SLX4IP', 'score': 0.11}]
chr20	GH20I010568	10568113	10568262	0.58	[{'connected_gene': 'LOC100421490', 'score': 0.25}, {'connected_gene': 'GC20P010506', 'score': 0.21}, {'connected_gene': 'SLX4IP', 'score': 0.12}]
chr20	GH20I010588	10588428	10589029	0.2	[{'connected_gene': 'LOC100421490', 'score': 0.31}, {'connected_gene': 'GC20P010506', 'score': 0.18}, {'connected_gene': 'SLX4IP', 'score': 0.1}]
chr20	GH20I010608	10608893	10610660	0.6	[{'connected_gene': 'LOC100421490', 'score': 0.77}, {'connected_gene': 'GC20P010506', 'score': 0.15}, {'connected_gene': 'SLX4IP', 'score': 0.1}]
chr20	GH20I010572	10572529	10575820	0.31	[{'connected_gene': 'LOC100421490', 'score': 0.26}, {'connected_gene': 'GC20P010506', 'score': 0.2}, {'connected_gene': 'SLX4IP', 'score': 0.12}]
chr20	GH20I010578	10578188	10579422	0.85	[{'connected_gene': 'LOC100421490', 'score': 0.28}, {'connected_gene': 'GC20P010506', 'score': 0.19}, {'connected_gene': 'SLX4IP', 'score': 0.11}]
chr20	GH20I010603	10603480	10606045	1.58	[{'connected_gene': 'LOC100421490', 'score': 0.44}, {'connected_gene': 'GC20P010506', 'score': 0.15}, {'connected_gene': 'SLX4IP', 'score': 0.09}]
chr20	GH20I010580	10580926	10582575	0.83	[{'connected_gene': 'LOC100421490', 'score': 0.29}, {'connected_gene': 'GC20P010506', 'score': 0.18}, {'connected_gene': 'SLX4IP', 'score': 0.11}]
chr20	GH20I010606	10606984	10608546	0.38	[{'connected_gene': 'LOC100421490', 'score': 0.44}, {'connected_gene': 'GC20P010506', 'score': 0.15}, {'connected_gene': 'SLX4IP', 'score': 0.09}]
chr20	GH20I010611	10611193	10612670	0.59	[{'connected_gene': 'LOC100421490', 'score': 0.77}, {'connected_gene': 'GC20P010506', 'score': 0.14}, {'connected_gene': 'SLX4IP', 'score': 0.1}]
chr20	GH20I010589	10589068	10590438	0.31	[{'connected_gene': 'LOC100421490', 'score': 0.34}, {'connected_gene': 'GC20P010506', 'score': 0.18}, {'connected_gene': 'SLX4IP', 'score': 0.1}]
chr20	GH20I010622	10622363	10623881	0.89	[{'connected_gene': 'PIR47988', 'score': 550.77}, {'connected_gene': 'MKKS', 'score': 4.51}, {'connected_gene': 'LOC100421490', 'score': 0.44}, {'connected_gene': 'SLX4IP', 'score': 0.09}]
chr20	GH20I010503	10503602	10507399	1.08	[{'connected_gene': 'GC20P010506', 'score': 550.77}, {'connected_gene': 'JAG1', 'score': 10.44}, {'connected_gene': 'SLX4IP', 'score': 0.19}]
chr20	GH20I010625	10625432	10627603	0.4	[{'connected_gene': 'PIR47988', 'score': 0.77}, {'connected_gene': 'MIR6870', 'score': 0.34}, {'connected_gene': 'SLX4IP', 'score': 0.08}]
chr20	GH20I010629	10629880	10630785	0.6	[{'connected_gene': 'PIR47988', 'score': 0.44}, {'connected_gene': 'MIR6870', 'score': 0.37}, {'connected_gene': 'SLX4IP', 'score': 0.08}]
chr20	GH20I010618	10618163	10620490	0.99	[{'connected_gene': 'PIR47988', 'score': 0.77}, {'connected_gene': 'LOC100421490', 'score': 0.44}, {'connected_gene': 'SLX4IP', 'score': 0.09}]