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
ENST00000534991	[[33765438, 33766254]]	[[33765531, 33765717]]
NR_026845	[[33765441, 33766269]]	None

Promoter

Chrom	Start	End	Description
chr21	33765411	33765489	CAGE_peak_1_at_C21orf119_5end
chr21	33765492	33765519	CAGE_peak_2_at_C21orf119_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr21	GH21I032425	32425374	32428696	1.12	[{'connected_gene': 'URB1', 'score': 18.16}, {'connected_gene': 'URB1-AS1', 'score': 11.09}, {'connected_gene': 'ENSG00000252045', 'score': 11.0}, {'connected_gene': 'TCP10L', 'score': 10.82}, {'connected_gene': 'SNORA80A', 'score': 10.31}, {'connected_gene': 'EVA1C', 'score': 7.71}, {'connected_gene': 'LOC101928078', 'score': 0.31}]
chr21	GH21I032423	32423067	32424991	0.69	[{'connected_gene': 'URB1', 'score': 17.49}, {'connected_gene': 'TCP10L', 'score': 11.42}, {'connected_gene': 'URB1-AS1', 'score': 11.22}, {'connected_gene': 'ENSG00000252045', 'score': 11.0}, {'connected_gene': 'SNORA80A', 'score': 10.57}, {'connected_gene': 'EVA1C', 'score': 7.82}, {'connected_gene': 'LOC101928078', 'score': 0.29}]
chr21	GH21I032420	32420544	32421731	0.2	[{'connected_gene': 'URB1', 'score': 16.39}, {'connected_gene': 'TCP10L', 'score': 11.42}, {'connected_gene': 'URB1-AS1', 'score': 11.23}, {'connected_gene': 'ENSG00000252045', 'score': 10.65}, {'connected_gene': 'SNORA80A', 'score': 10.58}, {'connected_gene': 'EVA1C', 'score': 7.35}, {'connected_gene': 'LOC101928078', 'score': 0.29}]
chr21	GH21I032417	32417106	32417965	0.31	[{'connected_gene': 'URB1', 'score': 16.91}, {'connected_gene': 'TCP10L', 'score': 11.42}, {'connected_gene': 'URB1-AS1', 'score': 11.26}, {'connected_gene': 'ENSG00000252045', 'score': 10.65}, {'connected_gene': 'SNORA80A', 'score': 10.58}, {'connected_gene': 'EVA1C', 'score': 0.44}, {'connected_gene': 'LOC101928078', 'score': 0.28}]
chr21	GH21I032492	32492368	32496992	1.28	[{'connected_gene': 'PAXBP1', 'score': 163.89}, {'connected_gene': 'TMEM50B', 'score': 119.08}, {'connected_gene': 'SCAF4', 'score': 106.11}, {'connected_gene': 'EVA1C', 'score': 63.05}, {'connected_gene': 'C21orf59', 'score': 52.39}, {'connected_gene': 'URB1', 'score': 40.3}, {'connected_gene': 'MIS18A', 'score': 36.22}, {'connected_gene': 'PAXBP1-AS1', 'score': 18.7}, {'connected_gene': 'C21orf62-AS1', 'score': 13.08}, {'connected_gene': 'ENSG00000238390', 'score': 11.57}, {'connected_gene': 'MIS18A-AS1', 'score': 11.36}, {'connected_gene': 'ENSG00000252045', 'score': 11.11}, {'connected_gene': 'ENSG00000273091', 'score': 10.19}, {'connected_gene': 'URB1-AS1', 'score': 9.93}, {'connected_gene': 'TCP10L', 'score': 5.45}, {'connected_gene': 'TIAM1', 'score': 5.44}, {'connected_gene': 'EXOSC3P1', 'score': 0.77}, {'connected_gene': 'LOC101928078', 'score': 0.26}]
chr21	GH21I032392	32392056	32394418	2.03	[{'connected_gene': 'URB1-AS1', 'score': 585.89}, {'connected_gene': 'URB1', 'score': 564.61}, {'connected_gene': 'PAXBP1', 'score': 43.81}, {'connected_gene': 'EVA1C', 'score': 20.58}, {'connected_gene': 'SCAF4', 'score': 18.16}, {'connected_gene': 'ENSG00000238390', 'score': 10.67}]
chr21	GH21I032347	32347344	32349863	0.77	[{'connected_gene': 'URB1-AS1', 'score': 34.79}, {'connected_gene': 'URB1', 'score': 17.01}, {'connected_gene': 'SNORA80A', 'score': 11.67}, {'connected_gene': 'LOC105372779', 'score': 11.26}, {'connected_gene': 'TCP10L', 'score': 10.63}, {'connected_gene': 'GC21M032342', 'score': 0.44}, {'connected_gene': 'GC21M032360', 'score': 0.39}]
chr21	GH21I032388	32388767	32390339	0.8	[{'connected_gene': 'URB1-AS1', 'score': 33.85}, {'connected_gene': 'URB1', 'score': 0.77}, {'connected_gene': 'SNORA80A', 'score': 0.39}, {'connected_gene': 'GC21M032378', 'score': 0.39}]
chr21	GH21I032386	32386017	32387090	0.66	[{'connected_gene': 'URB1-AS1', 'score': 35.35}, {'connected_gene': 'URB1', 'score': 7.97}, {'connected_gene': 'SNORA80A', 'score': 0.44}, {'connected_gene': 'GC21M032378', 'score': 0.44}]
chr21	GH21I032297	32297848	32298799	0.94	[{'connected_gene': 'URB1-AS1', 'score': 9.24}, {'connected_gene': 'URB1', 'score': 8.58}, {'connected_gene': 'MRAP', 'score': 0.44}, {'connected_gene': 'LOC105372779', 'score': 0.39}]
chr21	GH21I032327	32327813	32332232	1.44	[{'connected_gene': 'URB1-AS1', 'score': 34.23}, {'connected_gene': 'URB1', 'score': 16.68}, {'connected_gene': 'LOC105372779', 'score': 11.79}, {'connected_gene': 'SNORA80A', 'score': 10.71}, {'connected_gene': 'GC21M032342', 'score': 0.39}, {'connected_gene': 'PIR45335', 'score': 0.37}]
chr21	GH21I032334	32334092	32338315	0.66	[{'connected_gene': 'URB1-AS1', 'score': 34.48}, {'connected_gene': 'URB1', 'score': 17.16}, {'connected_gene': 'LOC105372779', 'score': 11.29}, {'connected_gene': 'SNORA80A', 'score': 10.79}, {'connected_gene': 'ENSG00000252045', 'score': 9.62}, {'connected_gene': 'GC21M032342', 'score': 0.44}, {'connected_gene': 'PIR45335', 'score': 0.34}]
chr21	GH21I032363	32363804	32365305	0.89	[{'connected_gene': 'URB1-AS1', 'score': 44.14}, {'connected_gene': 'URB1', 'score': 12.08}, {'connected_gene': 'LOC105372779', 'score': 10.94}, {'connected_gene': 'ENSG00000252045', 'score': 9.82}, {'connected_gene': 'GC21M032360', 'score': 0.77}, {'connected_gene': 'SNORA80A', 'score': 0.39}, {'connected_gene': 'GC21M032378', 'score': 0.39}]
chr21	GH21I032319	32319479	32321583	0.31	[{'connected_gene': 'URB1-AS1', 'score': 24.39}, {'connected_gene': 'PIR45335', 'score': 0.44}, {'connected_gene': 'GC21M032342', 'score': 0.34}, {'connected_gene': 'URB1', 'score': 0.19}]
chr21	GH21I032377	32377587	32383471	0.82	[{'connected_gene': 'URB1-AS1', 'score': 33.68}, {'connected_gene': 'SNORA80A', 'score': 0.77}, {'connected_gene': 'GC21M032378', 'score': 0.77}, {'connected_gene': 'URB1', 'score': 0.39}]
chr21	GH21I032324	32324636	32326920	0.2	[{'connected_gene': 'URB1-AS1', 'score': 19.93}, {'connected_gene': 'SNORA80A', 'score': 10.64}, {'connected_gene': 'PIR45335', 'score': 0.39}, {'connected_gene': 'GC21M032342', 'score': 0.37}, {'connected_gene': 'URB1', 'score': 0.2}]
chr21	GH21I032351	32351552	32351721	0.63	[{'connected_gene': 'URB1-AS1', 'score': 35.31}, {'connected_gene': 'SNORA80A', 'score': 11.67}, {'connected_gene': 'LOC105372779', 'score': 11.24}, {'connected_gene': 'URB1', 'score': 10.97}, {'connected_gene': 'TCP10L', 'score': 10.63}, {'connected_gene': 'GC21M032342', 'score': 0.44}, {'connected_gene': 'GC21M032360', 'score': 0.39}]
chr21	GH21I032482	32482419	32484137	0.2	[{'connected_gene': 'URB1-AS1', 'score': 15.27}, {'connected_gene': 'EVA1C', 'score': 11.27}, {'connected_gene': 'ENSG00000252045', 'score': 11.05}, {'connected_gene': 'URB1', 'score': 10.88}, {'connected_gene': 'TCP10L', 'score': 10.51}, {'connected_gene': 'C21orf59', 'score': 4.71}, {'connected_gene': 'EXOSC3P1', 'score': 0.39}, {'connected_gene': 'LOC101928078', 'score': 0.31}]
chr21	GH21I032370	32370439	32373453	1.16	[{'connected_gene': 'URB1-AS1', 'score': 32.48}, {'connected_gene': 'EVA1C', 'score': 21.81}, {'connected_gene': 'PAXBP1', 'score': 20.53}, {'connected_gene': 'URB1', 'score': 14.18}, {'connected_gene': 'LOC105372779', 'score': 10.73}, {'connected_gene': 'ENSG00000238390', 'score': 10.67}, {'connected_gene': 'TCP10L', 'score': 10.41}, {'connected_gene': 'SCAF4', 'score': 9.87}, {'connected_gene': 'GC21M032378', 'score': 0.44}, {'connected_gene': 'GC21M032360', 'score': 0.44}, {'connected_gene': 'SNORA80A', 'score': 0.44}]
chr21	GH21I032350	32350947	32351385	0.4	[{'connected_gene': 'SNORA80A', 'score': 11.67}, {'connected_gene': 'LOC105372779', 'score': 11.24}, {'connected_gene': 'URB1', 'score': 10.97}, {'connected_gene': 'URB1-AS1', 'score': 10.97}, {'connected_gene': 'TCP10L', 'score': 10.63}, {'connected_gene': 'GC21M032342', 'score': 0.44}, {'connected_gene': 'GC21M032360', 'score': 0.39}]
chr21	GH21I032601	32601091	32601260	0.66	[{'connected_gene': 'EVA1C', 'score': 11.47}, {'connected_gene': 'URB1', 'score': 10.9}, {'connected_gene': 'URB1-AS1', 'score': 10.9}, {'connected_gene': 'ENSG00000252045', 'score': 10.46}, {'connected_gene': 'TCP10L', 'score': 8.81}, {'connected_gene': 'LOC105372781', 'score': 0.77}, {'connected_gene': 'ENSG00000265590', 'score': 0.39}, {'connected_gene': 'C21orf59', 'score': 0.39}]
chr21	GH21I032484	32484625	32485240	0.6	[{'connected_gene': 'EVA1C', 'score': 11.27}, {'connected_gene': 'ENSG00000252045', 'score': 11.06}, {'connected_gene': 'URB1', 'score': 10.88}, {'connected_gene': 'URB1-AS1', 'score': 10.88}, {'connected_gene': 'TCP10L', 'score': 10.51}, {'connected_gene': 'EXOSC3P1', 'score': 0.39}, {'connected_gene': 'LOC101928078', 'score': 0.29}]
chr21	GH21I032515	32515247	32518036	1.2	[{'connected_gene': 'EVA1C', 'score': 10.22}, {'connected_gene': 'URB1', 'score': 10.05}, {'connected_gene': 'URB1-AS1', 'score': 10.05}, {'connected_gene': 'TCP10L', 'score': 6.65}, {'connected_gene': 'PIR52370', 'score': 0.39}, {'connected_gene': 'EXOSC3P1', 'score': 0.37}, {'connected_gene': 'GC21M032514', 'score': 0.23}]
chr21	GH21I032407	32407490	32408696	0.2	[{'connected_gene': 'EVA1C', 'score': 8.78}, {'connected_gene': 'URB1', 'score': 7.17}, {'connected_gene': 'URB1-AS1', 'score': 0.39}]
chr21	GH21I032403	32403200	32403601	1.14	[{'connected_gene': 'EVA1C', 'score': 14.57}, {'connected_gene': 'PAXBP1', 'score': 13.79}, {'connected_gene': 'SCAF4', 'score': 12.72}, {'connected_gene': 'TCP10L', 'score': 10.91}, {'connected_gene': 'SNORA80A', 'score': 10.4}, {'connected_gene': 'ENSG00000252045', 'score': 10.02}, {'connected_gene': 'URB1-AS1', 'score': 0.39}]
chr21	GH21I032603	32603864	32605867	0.54	[{'connected_gene': 'EVA1C', 'score': 10.98}, {'connected_gene': 'SNORA80A', 'score': 10.62}, {'connected_gene': 'ENSG00000252045', 'score': 10.21}, {'connected_gene': 'URB1', 'score': 10.14}, {'connected_gene': 'URB1-AS1', 'score': 10.14}, {'connected_gene': 'LOC105372781', 'score': 0.44}, {'connected_gene': 'ENSG00000265590', 'score': 0.44}, {'connected_gene': 'C21orf59', 'score': 0.44}]
chr21	GH21I032410	32410477	32415836	2.14	[{'connected_gene': 'EVA1C', 'score': 578.24}, {'connected_gene': 'SCAF4', 'score': 32.04}, {'connected_gene': 'PAXBP1', 'score': 30.63}, {'connected_gene': 'URB1', 'score': 28.3}, {'connected_gene': 'C21orf59', 'score': 21.68}, {'connected_gene': 'MIS18A', 'score': 14.41}, {'connected_gene': 'TCP10L', 'score': 11.42}, {'connected_gene': 'URB1-AS1', 'score': 11.26}, {'connected_gene': 'ENSG00000252045', 'score': 10.9}, {'connected_gene': 'SNORA80A', 'score': 10.6}, {'connected_gene': 'IL10RB', 'score': 5.21}, {'connected_gene': 'LOC101928078', 'score': 0.26}]
chr21	GH21I032339	32339276	32340356	0.79	[{'connected_gene': 'C21orf59', 'score': 13.11}, {'connected_gene': 'URB1-AS1', 'score': 9.87}, {'connected_gene': 'URB1', 'score': 6.07}, {'connected_gene': 'GC21M032342', 'score': 0.77}, {'connected_gene': 'PIR45335', 'score': 0.31}]
chr21	GH21I032256	32256327	32257731	0.86	[{'connected_gene': 'HUNK', 'score': 10.88}, {'connected_gene': 'MIS18A', 'score': 9.3}, {'connected_gene': 'URB1-AS1', 'score': 5.8}, {'connected_gene': 'URB1', 'score': 4.39}, {'connected_gene': 'ENSG00000261610', 'score': 0.77}, {'connected_gene': 'GC21P032241', 'score': 0.37}]
chr21	GH21I032406	32406257	32406965	0.31	[{'connected_gene': 'TCP10L', 'score': 10.68}, {'connected_gene': 'SNORA80A', 'score': 10.31}, {'connected_gene': 'EVA1C', 'score': 7.83}, {'connected_gene': 'URB1', 'score': 5.49}, {'connected_gene': 'URB1-AS1', 'score': 0.39}]
chr21	GH21I032545	32545229	32546332	0.89	[{'connected_gene': 'TCP10L', 'score': 25.36}, {'connected_gene': 'SCAF4', 'score': 15.12}, {'connected_gene': 'PAXBP1', 'score': 14.34}, {'connected_gene': 'SON', 'score': 11.29}, {'connected_gene': 'EVA1C', 'score': 10.2}, {'connected_gene': 'URB1', 'score': 10.07}, {'connected_gene': 'URB1-AS1', 'score': 10.07}, {'connected_gene': 'ENSG00000252045', 'score': 0.44}, {'connected_gene': 'PIR42781', 'score': 0.37}, {'connected_gene': 'GC21M032514', 'score': 0.34}]
chr21	GH21I032461	32461169	32465481	1.42	[{'connected_gene': 'MIS18A-AS1', 'score': 18.42}, {'connected_gene': 'ENSG00000238390', 'score': 16.19}, {'connected_gene': 'URB1-AS1', 'score': 15.13}, {'connected_gene': 'C21orf59', 'score': 12.41}, {'connected_gene': 'FBXW11P1', 'score': 11.87}, {'connected_gene': 'EXOSC3P1', 'score': 11.78}, {'connected_gene': 'EVA1C', 'score': 11.36}, {'connected_gene': 'ENSG00000252045', 'score': 11.35}, {'connected_gene': 'URB1', 'score': 10.19}, {'connected_gene': 'SNORA80A', 'score': 9.93}, {'connected_gene': 'LOC105372779', 'score': 8.82}, {'connected_gene': 'LOC101928078', 'score': 0.44}]
chr21	GH21I032561	32561049	32563227	0.88	[{'connected_gene': 'RNA5SP490', 'score': 550.77}, {'connected_gene': 'PIR42781', 'score': 550.77}, {'connected_gene': 'TCP10L', 'score': 19.63}, {'connected_gene': 'C21orf59', 'score': 13.28}, {'connected_gene': 'ENSG00000252045', 'score': 12.16}, {'connected_gene': 'EVA1C', 'score': 11.31}, {'connected_gene': 'PAXBP1', 'score': 11.2}, {'connected_gene': 'URB1', 'score': 10.9}, {'connected_gene': 'URB1-AS1', 'score': 10.9}, {'connected_gene': 'SNORA80A', 'score': 10.06}, {'connected_gene': 'SCAF4', 'score': 9.99}, {'connected_gene': 'TMEM50B', 'score': 9.94}, {'connected_gene': 'GC21M032514', 'score': 0.44}]
chr21	GH21I032360	32360772	32360921	0.58	[{'connected_gene': 'GC21M032360', 'score': 550.77}, {'connected_gene': 'URB1', 'score': 11.73}, {'connected_gene': 'URB1-AS1', 'score': 11.73}, {'connected_gene': 'GC21M032342', 'score': 0.37}]
chr21	GH21I032340	32340846	32342085	0.31	[{'connected_gene': 'GC21M032342', 'score': 550.77}, {'connected_gene': 'URB1-AS1', 'score': 23.89}, {'connected_gene': 'PIR45335', 'score': 0.31}, {'connected_gene': 'URB1', 'score': 0.23}]
chr21	GH21I032468	32468688	32469561	0.59	[{'connected_gene': 'ENSG00000252045', 'score': 10.9}, {'connected_gene': 'URB1-AS1', 'score': 4.69}, {'connected_gene': 'LOC101928078', 'score': 0.39}, {'connected_gene': 'EXOSC3P1', 'score': 0.31}, {'connected_gene': 'EVA1C', 'score': 0.22}]
chr21	GH21I032568	32568801	32570605	1.21	[{'connected_gene': 'GC21M032514', 'score': 550.77}, {'connected_gene': 'EVA1C', 'score': 11.86}, {'connected_gene': 'ENSG00000252045', 'score': 11.46}, {'connected_gene': 'URB1', 'score': 10.66}, {'connected_gene': 'URB1-AS1', 'score': 10.66}, {'connected_gene': 'SNORA80A', 'score': 10.46}, {'connected_gene': 'LINC00846', 'score': 10.32}, {'connected_gene': 'TCP10L', 'score': 9.63}, {'connected_gene': 'RNA5SP490', 'score': 0.44}]
chr21	GH21I032562	32560195	32560407	0.2	[{'connected_gene': 'PIR42781', 'score': 550.77}, {'connected_gene': 'ENSG00000252045', 'score': 12.16}, {'connected_gene': 'TCP10L', 'score': 11.3}, {'connected_gene': 'URB1', 'score': 10.9}, {'connected_gene': 'URB1-AS1', 'score': 10.9}, {'connected_gene': 'EVA1C', 'score': 10.75}, {'connected_gene': 'GC21M032514', 'score': 0.39}]
chr21	GH21I032560	32560831	32560980	0.2	[{'connected_gene': 'PIR42781', 'score': 550.77}, {'connected_gene': 'TCP10L', 'score': 18.91}, {'connected_gene': 'ENSG00000252045', 'score': 12.16}, {'connected_gene': 'URB1', 'score': 10.9}, {'connected_gene': 'URB1-AS1', 'score': 10.9}, {'connected_gene': 'EVA1C', 'score': 10.75}, {'connected_gene': 'GC21M032514', 'score': 0.44}]