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
ENST00000254958	[[10618331, 10620603], [10621430, 10621581], [10621760, 10621892], [10622107, 10622341], [10622430, 10622540], [10623135, 10623249], [10624425, 10624511], [10625004, 10625032], [10625510, 10625627], [10625790, 10625904], [10626003, 10626117], [10626618, 10626732], [10627586, 10627751], [10628607, 10628758], [10629196, 10629370], [10629708, 10629755], [10630169, 10630283], [10630894, 10631008], [10632228, 10632342], [10632778, 10632898], [10633115, 10633246], [10637045, 10637106], [10639115, 10639370], [10644610, 10644662], [10653348, 10653654], [10654097, 10654694]]	[[10620145, 10620603], [10621430, 10621581], [10621760, 10621892], [10622107, 10622341], [10622430, 10622540], [10623135, 10623249], [10624425, 10624511], [10625004, 10625032], [10625510, 10625627], [10625790, 10625904], [10626003, 10626117], [10626618, 10626732], [10627586, 10627751], [10628607, 10628758], [10629196, 10629370], [10629708, 10629755], [10630169, 10630283], [10630894, 10631008], [10632228, 10632342], [10632778, 10632898], [10633115, 10633246], [10637045, 10637106], [10639115, 10639370], [10644610, 10644662], [10653348, 10653654], [10654097, 10654178]]
ENST00000423891	[[10618406, 10618615], [10620119, 10620603], [10621430, 10621581], [10621760, 10621892], [10622107, 10622341], [10622430, 10622540], [10623135, 10623249], [10624425, 10624511], [10625004, 10625032], [10625510, 10625627], [10625790, 10625904], [10626003, 10626117], [10626618, 10626732], [10627586, 10627751], [10628607, 10628758], [10629196, 10629370], [10629708, 10629755], [10630169, 10630283], [10630894, 10631008], [10632228, 10632342], [10632778, 10632898], [10633115, 10633246], [10637045, 10637106], [10639115, 10639370], [10642849, 10643154]]	[[10620145, 10620603], [10621430, 10621581], [10621760, 10621892], [10622107, 10622341], [10622430, 10622540], [10623135, 10623249], [10624425, 10624511], [10625004, 10625032], [10625510, 10625627], [10625790, 10625904], [10626003, 10626117], [10626618, 10626732], [10627586, 10627751], [10628607, 10628758], [10629196, 10629370], [10629708, 10629755], [10630169, 10630283], [10630894, 10631008], [10632228, 10632342], [10632778, 10632898], [10633115, 10633246], [10637045, 10637106], [10639115, 10639332]]
NM_000214	[[10618331, 10620603], [10621430, 10621581], [10621760, 10621892], [10622107, 10622341], [10622430, 10622540], [10623135, 10623249], [10624425, 10624511], [10625004, 10625032], [10625510, 10625627], [10625790, 10625904], [10626003, 10626117], [10626618, 10626732], [10627586, 10627751], [10628607, 10628758], [10629196, 10629370], [10629708, 10629755], [10630169, 10630283], [10630894, 10631008], [10632228, 10632342], [10632778, 10632898], [10633115, 10633246], [10637045, 10637106], [10639115, 10639370], [10644610, 10644662], [10653348, 10653654], [10654097, 10654694]]	[[10620145, 10620603], [10621430, 10621581], [10621760, 10621892], [10622107, 10622341], [10622430, 10622540], [10623135, 10623249], [10624425, 10624511], [10625004, 10625032], [10625510, 10625627], [10625790, 10625904], [10626003, 10626117], [10626618, 10626732], [10627586, 10627751], [10628607, 10628758], [10629196, 10629370], [10629708, 10629755], [10630169, 10630283], [10630894, 10631008], [10632228, 10632342], [10632778, 10632898], [10633115, 10633246], [10637045, 10637106], [10639115, 10639370], [10644610, 10644662], [10653348, 10653654], [10654097, 10654178]]

Promoter

Chrom	Start	End	Description
chr20	10654253	10654271	CAGE_peak_4_at_JAG1_5end
chr20	10654284	10654308	CAGE_peak_7_at_JAG1_5end
chr20	10654309	10654329	CAGE_peak_6_at_JAG1_5end
chr20	10654451	10654491	CAGE_peak_5_at_JAG1_5end
chr20	10654548	10654552	CAGE_peak_3_at_JAG1_5end
chr20	10654594	10654605	CAGE_peak_2_at_JAG1_5end
chr20	10654639	10654656	CAGE_peak_1_at_JAG1_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	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	GH20I010663	10663313	10675922	2.75	[{'connected_gene': 'JAG1', 'score': 557.94}, {'connected_gene': 'C20orf187', 'score': 4.4}, {'connected_gene': 'GC20M010673', 'score': 0.77}, {'connected_gene': 'ENSG00000270792', 'score': 0.77}, {'connected_gene': 'GC20P010675', 'score': 0.44}, {'connected_gene': 'MIR6870', 'score': 0.37}]
chr20	GH20I011261	11261133	11262322	0.64	[{'connected_gene': 'JAG1', 'score': 9.25}, {'connected_gene': 'GC20P011248', 'score': 0.39}, {'connected_gene': 'LOC339593', 'score': 0.28}]
chr20	GH20I011271	11271413	11271642	0.46	[{'connected_gene': 'JAG1', 'score': 10.52}, {'connected_gene': 'GC20P011248', 'score': 0.34}, {'connected_gene': 'LOC339593', 'score': 0.31}]
chr20	GH20I011266	11266173	11269029	1.12	[{'connected_gene': 'JAG1', 'score': 10.52}, {'connected_gene': 'GC20P011248', 'score': 0.37}, {'connected_gene': 'LOC339593', 'score': 0.29}]
chr20	GH20I011338	11338066	11339267	0.52	[{'connected_gene': 'JAG1', 'score': 13.34}, {'connected_gene': 'RPS11P1', 'score': 0.44}, {'connected_gene': 'LOC339593', 'score': 0.28}, {'connected_gene': 'LOC105372529', 'score': 0.17}]
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	GH20I011393	11393585	11396114	0.58	[{'connected_gene': 'JAG1', 'score': 4.82}, {'connected_gene': 'GC20M011371', 'score': 0.37}, {'connected_gene': 'LOC105372529', 'score': 0.29}]
chr20	GH20I011234	11234071	11235873	0.63	[{'connected_gene': 'JAG1', 'score': 10.35}, {'connected_gene': 'GC20P011248', 'score': 0.39}, {'connected_gene': 'LOC105372528', 'score': 0.22}, {'connected_gene': 'LOC339593', 'score': 0.2}]
chr20	GH20I011169	11169762	11171167	0.31	[{'connected_gene': 'JAG1', 'score': 5.12}, {'connected_gene': 'LOC105372528', 'score': 0.44}, {'connected_gene': 'LOC105372527', 'score': 0.39}]
chr20	GH20I011204	11204773	11209102	1.07	[{'connected_gene': 'JAG1', 'score': 10.56}, {'connected_gene': 'LOC105372528', 'score': 0.31}, {'connected_gene': 'GC20P011248', 'score': 0.26}]
chr20	GH20I011228	11228532	11229021	0.4	[{'connected_gene': 'JAG1', 'score': 9.85}, {'connected_gene': 'GC20P011248', 'score': 0.37}, {'connected_gene': 'LOC105372528', 'score': 0.23}]
chr20	GH20I011229	11229353	11230687	0.91	[{'connected_gene': 'JAG1', 'score': 10.36}, {'connected_gene': 'GC20P011248', 'score': 0.37}, {'connected_gene': 'LOC105372528', 'score': 0.23}]
chr20	GH20I011195	11195010	11197112	0.63	[{'connected_gene': 'JAG1', 'score': 8.03}, {'connected_gene': 'LOC105372528', 'score': 0.37}, {'connected_gene': 'GC20P011248', 'score': 0.23}]
chr20	GH20I011216	11216253	11218362	0.95	[{'connected_gene': 'JAG1', 'score': 10.54}, {'connected_gene': 'GC20P011248', 'score': 0.29}, {'connected_gene': 'LOC105372528', 'score': 0.28}]
chr20	GH20I010641	10641713	10641862	0.51	[{'connected_gene': 'JAG1', 'score': 11.39}, {'connected_gene': 'MIR6870', 'score': 0.44}, {'connected_gene': 'PIR47988', 'score': 0.37}]
chr20	GH20I010659	10659273	10661603	0.86	[{'connected_gene': 'JAG1', 'score': 0.39}, {'connected_gene': 'MIR6870', 'score': 0.39}, {'connected_gene': 'ENSG00000270792', 'score': 0.39}]
chr20	GH20I010642	10642502	10645689	0.54	[{'connected_gene': 'JAG1', 'score': 11.39}, {'connected_gene': 'MIR6870', 'score': 0.44}, {'connected_gene': 'PIR47988', 'score': 0.34}]
chr20	GH20I010643	10642175	10642458	0.51	[{'connected_gene': 'JAG1', 'score': 11.39}, {'connected_gene': 'MIR6870', 'score': 0.44}, {'connected_gene': 'PIR47988', 'score': 0.37}]
chr20	GH20I010650	10650834	10657338	1.25	[{'connected_gene': 'JAG1', 'score': 12.01}, {'connected_gene': 'MIR6870', 'score': 0.77}, {'connected_gene': 'ENSG00000270792', 'score': 0.37}]
chr20	GH20I010699	10699206	10700563	0.2	[{'connected_gene': 'JAG1', 'score': 11.32}, {'connected_gene': 'GC20M010678', 'score': 0.34}, {'connected_gene': 'ENSG00000270792', 'score': 0.31}, {'connected_gene': 'LINC01752', 'score': 0.23}]
chr20	GH20I010714	10714833	10714982	0.64	[{'connected_gene': 'JAG1', 'score': 10.53}, {'connected_gene': 'GC20M010678', 'score': 0.28}, {'connected_gene': 'LINC01752', 'score': 0.28}, {'connected_gene': 'ENSG00000270792', 'score': 0.26}]
chr20	GH20I010715	10715113	10715282	0.77	[{'connected_gene': 'JAG1', 'score': 10.53}, {'connected_gene': 'GC20M010678', 'score': 0.28}, {'connected_gene': 'LINC01752', 'score': 0.28}, {'connected_gene': 'ENSG00000270792', 'score': 0.26}]
chr20	GH20I010695	10695290	10697368	0.52	[{'connected_gene': 'JAG1', 'score': 11.86}, {'connected_gene': 'GC20M010678', 'score': 0.37}, {'connected_gene': 'ENSG00000270792', 'score': 0.34}, {'connected_gene': 'LINC01752', 'score': 0.22}]
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	GH20I011516	11516150	11517264	0.2	[{'connected_gene': 'JAG1', 'score': 4.43}, {'connected_gene': 'GC20P011514', 'score': 0.77}, {'connected_gene': 'ENSG00000282478', 'score': 0.34}]
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	GH20I010647	10647052	10650732	0.84	[{'connected_gene': 'MIR6870', 'score': 550.77}, {'connected_gene': 'JAG1', 'score': 11.98}, {'connected_gene': 'PIR47988', 'score': 0.31}]
chr20	GH20I010658	10658093	10658242	0.51	[{'connected_gene': 'MIR6870', 'score': 0.44}, {'connected_gene': 'ENSG00000270792', 'score': 0.39}, {'connected_gene': 'JAG1', 'score': 0.37}]
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	GH20I011542	11542635	11544600	1	[{'connected_gene': 'ENSG00000282478', 'score': 550.77}, {'connected_gene': 'JAG1', 'score': 14.52}, {'connected_gene': 'LIN28AP3', 'score': 0.2}]
chr20	GH20I011248	11248575	11249037	0.46	[{'connected_gene': 'GC20P011248', 'score': 550.77}, {'connected_gene': 'JAG1', 'score': 19.87}, {'connected_gene': 'LOC339593', 'score': 0.23}]
chr20	GH20I011249	11249633	11249750	0.31	[{'connected_gene': 'GC20P011248', 'score': 550.77}, {'connected_gene': 'JAG1', 'score': 10.05}, {'connected_gene': 'LOC339593', 'score': 0.23}]
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	GH20I011540	11540215	11541621	0.69	[{'connected_gene': 'ENSG00000282478', 'score': 550.77}, {'connected_gene': 'JAG1', 'score': 10.06}, {'connected_gene': 'GC20P011514', 'score': 0.31}]