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
ENST00000347364	[[10381656, 10386335], [10388263, 10388374], [10389275, 10389451], [10393177, 10394579], [10401175, 10401406], [10414755, 10414870]]	[[10385894, 10386335], [10388263, 10388374], [10389275, 10389451], [10393177, 10394162]]
ENST00000399054	[[10385831, 10386335], [10388263, 10388374], [10389275, 10389451], [10393177, 10394579], [10401175, 10401406], [10412331, 10412570]]	[[10385894, 10386335], [10388263, 10388374], [10389275, 10389451], [10393177, 10394162]]
ENST00000609375	[[10394167, 10394579], [10401175, 10401406], [10412331, 10412570]]	[[10401193, 10401385]]
NM_018848	[[10385427, 10386335], [10388263, 10388374], [10389275, 10389451], [10393177, 10394579], [10401175, 10401406], [10412331, 10412573]]	[[10385894, 10386335], [10388263, 10388374], [10389275, 10389451], [10393177, 10394162]]
NM_170784	[[10385427, 10386335], [10388263, 10388374], [10389275, 10389451], [10393177, 10394579], [10401175, 10401406], [10414755, 10414887]]	[[10385894, 10386335], [10388263, 10388374], [10389275, 10389451], [10393177, 10394162]]
NR_072977	[[10385427, 10386335], [10388263, 10388374], [10389275, 10389451], [10401175, 10401406], [10414755, 10414887]]	None

Promoter

Chrom	Start	End	Description
chr20	10414793	10414803	CAGE_peak_2_at_MKKS_5end
chr20	10414804	10414884	CAGE_peak_1_at_MKKS_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I010418	10418492	10421027	0.87	[{'connected_gene': 'MKKS', 'score': 8.38}, {'connected_gene': 'SNAP25', 'score': 4.9}, {'connected_gene': 'GC20M010401', 'score': 0.37}]
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	GH20I010313	10313649	10314982	0.72	[{'connected_gene': 'MKKS', 'score': 4.74}, {'connected_gene': 'GC20P010311', 'score': 0.77}, {'connected_gene': 'HIGD1AP15', 'score': 0.34}, {'connected_gene': 'SNAP25-AS1', 'score': 0.23}]
chr20	GH20I010376	10376007	10377267	0.66	[{'connected_gene': 'MKKS', 'score': 4.81}, {'connected_gene': 'SNAP25-AS1', 'score': 0.44}, {'connected_gene': 'SDAD1P2', 'score': 0.44}]
chr20	GH20I010414	10414650	10416669	0.8	[{'connected_gene': 'MKKS', 'score': 8.82}, {'connected_gene': 'GC20M010401', 'score': 0.39}]
chr20	GH20I010427	10427001	10427342	0.84	[{'connected_gene': 'MKKS', 'score': 0.44}, {'connected_gene': 'GC20M010401', 'score': 0.34}]
chr20	GH20I010429	10429070	10431151	1.3	[{'connected_gene': 'MKKS', 'score': 5.32}, {'connected_gene': 'GC20M010401', 'score': 0.31}]
chr20	GH20I010299	10299987	10300239	0.23	[{'connected_gene': 'SNAP25', 'score': 2.07}, {'connected_gene': 'PAK5', 'score': 1.92}, {'connected_gene': 'MKKS', 'score': 1.38}, {'connected_gene': 'GC20P010311', 'score': 0.44}, {'connected_gene': 'SNAP25-AS1', 'score': 0.2}, {'connected_gene': 'GC20M010220', 'score': 0.18}, {'connected_gene': 'GC20M010223', 'score': 0.18}]
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	GH20I010707	10707725	10713378	1.4	[{'connected_gene': 'JAG1', 'score': 5.05}, {'connected_gene': 'MKKS', 'score': 1.63}, {'connected_gene': 'GC20M010678', 'score': 0.29}, {'connected_gene': 'ENSG00000270792', 'score': 0.28}, {'connected_gene': 'LINC01752', 'score': 0.26}]
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	GH20I010319	10318750	10318854	0.59	[{'connected_gene': 'LOC100421490', 'score': 10.39}, {'connected_gene': 'MKKS', 'score': 2.55}, {'connected_gene': 'GC20P010311', 'score': 0.44}, {'connected_gene': 'HIGD1AP15', 'score': 0.37}, {'connected_gene': 'SNAP25-AS1', 'score': 0.25}]
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	GH20I010308	10308453	10310501	0.72	[{'connected_gene': 'GC20P010311', 'score': 550.77}, {'connected_gene': 'MKKS', 'score': 4.72}, {'connected_gene': 'SNAP25-AS1', 'score': 0.22}, {'connected_gene': 'GC20M010220', 'score': 0.17}, {'connected_gene': 'GC20M010223', 'score': 0.17}]
chr20	GH20I010413	10413253	10413262	0.46	[{'connected_gene': 'GC20M010401', 'score': 0.44}, {'connected_gene': 'MKKS', 'score': 0.34}]