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
ENST00000295934	[[57231943, 57232323], [57232418, 57232520], [57232780, 57232980], [57233789, 57233983]]	[[57232224, 57232323], [57232418, 57232520], [57232780, 57232980], [57233789, 57233946]]
ENST00000473921	[[57232008, 57232323], [57232780, 57232980], [57233789, 57233966]]	[[57232224, 57232323], [57232780, 57232980], [57233789, 57233946]]
ENST00000495160	[[57232816, 57232980], [57233789, 57234056], [57260323, 57260549]]	[[57232816, 57232980], [57233789, 57233946]]
NM_003865	[[57231943, 57232323], [57232418, 57232520], [57232780, 57232980], [57233789, 57234280]]	[[57232224, 57232323], [57232418, 57232520], [57232780, 57232980], [57233789, 57233946]]

Promoter

Chrom	Start	End	Description
chr3	57234000	57234014	CAGE_peak_1_at_HESX1_5end
chr3	57260377	57260399	CAGE_peak_2_at_HESX1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I057199	57199802	57200582	1.06	[{'connected_gene': 'HESX1', 'score': 561.98}, {'connected_gene': 'GC03P057200', 'score': 550.77}, {'connected_gene': 'APPL1', 'score': 11.98}, {'connected_gene': 'IL17RD', 'score': 11.04}, {'connected_gene': 'PDE12', 'score': 10.41}, {'connected_gene': 'ASB14', 'score': 10.36}, {'connected_gene': 'DNAH12', 'score': 10.25}, {'connected_gene': 'ARHGEF3', 'score': 9.59}, {'connected_gene': 'GC03M057226', 'score': 0.31}]
chr3	GH03I057896	57896179	57896238	0.5	[{'connected_gene': 'SLMAP', 'score': 550.11}, {'connected_gene': 'DENND6A-DT', 'score': 10.14}, {'connected_gene': 'DENND6A', 'score': 10.14}, {'connected_gene': 'FLNB', 'score': 9.75}, {'connected_gene': 'APPL1', 'score': 9.71}, {'connected_gene': 'HESX1', 'score': 9.71}, {'connected_gene': 'FLNB-AS1', 'score': 9.68}, {'connected_gene': 'GC03P057900', 'score': 0.77}, {'connected_gene': 'GC03M057850', 'score': 0.25}]
chr3	GH03I057127	57127428	57132788	1.03	[{'connected_gene': 'IL17RD', 'score': 20.0}, {'connected_gene': 'ARHGEF3', 'score': 10.83}, {'connected_gene': 'APPL1', 'score': 10.6}, {'connected_gene': 'HESX1', 'score': 10.6}, {'connected_gene': 'ASB14', 'score': 9.5}, {'connected_gene': 'DNAH12', 'score': 9.45}, {'connected_gene': 'SLMAP', 'score': 4.02}, {'connected_gene': 'RPL19P2', 'score': 0.77}, {'connected_gene': 'PIR43010', 'score': 0.29}]
chr3	GH03I057162	57162857	57165800	2.13	[{'connected_gene': 'IL17RD', 'score': 556.18}, {'connected_gene': 'APPL1', 'score': 10.62}, {'connected_gene': 'HESX1', 'score': 10.62}, {'connected_gene': 'SLMAP', 'score': 4.03}, {'connected_gene': 'LOC105377101', 'score': 0.39}]
chr3	GH03I057169	57169801	57170601	1.36	[{'connected_gene': 'IL17RD', 'score': 550.77}, {'connected_gene': 'APPL1', 'score': 16.79}, {'connected_gene': 'HESX1', 'score': 11.04}, {'connected_gene': 'PDE12', 'score': 10.36}, {'connected_gene': 'ASB14', 'score': 9.91}, {'connected_gene': 'DNAH12', 'score': 9.84}, {'connected_gene': 'DENND6A-DT', 'score': 9.47}, {'connected_gene': 'DENND6A', 'score': 9.47}, {'connected_gene': 'SLMAP', 'score': 4.1}, {'connected_gene': 'LOC105377101', 'score': 0.37}]
chr3	GH03I057100	57100213	57100362	0.83	[{'connected_gene': 'ARHGEF3', 'score': 15.73}, {'connected_gene': 'SPATA12', 'score': 11.67}, {'connected_gene': 'IL17RD', 'score': 11.06}, {'connected_gene': 'APPL1', 'score': 10.41}, {'connected_gene': 'HESX1', 'score': 10.41}, {'connected_gene': 'PIR43010', 'score': 0.77}, {'connected_gene': 'RPL19P2', 'score': 0.29}]
chr3	GH03I057110	57110720	57111534	0.49	[{'connected_gene': 'ARHGEF3', 'score': 11.6}, {'connected_gene': 'SPATA12', 'score': 11.2}, {'connected_gene': 'PDE12', 'score': 10.4}, {'connected_gene': 'APPL1', 'score': 10.17}, {'connected_gene': 'HESX1', 'score': 10.17}, {'connected_gene': 'ASB14', 'score': 10.07}, {'connected_gene': 'DNAH12', 'score': 10.03}, {'connected_gene': 'PIR43010', 'score': 0.39}, {'connected_gene': 'RPL19P2', 'score': 0.34}, {'connected_gene': 'IL17RD', 'score': 0.22}]
chr3	GH03I057057	57057417	57057578	0.27	[{'connected_gene': 'ARHGEF3', 'score': 17.63}, {'connected_gene': 'APPL1', 'score': 9.14}, {'connected_gene': 'HESX1', 'score': 9.14}, {'connected_gene': 'SPATA12', 'score': 0.77}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.13}]
chr3	GH03I056991	56991913	56992819	0.82	[{'connected_gene': 'ARHGEF3', 'score': 11.43}, {'connected_gene': 'APPL1', 'score': 9.16}, {'connected_gene': 'HESX1', 'score': 9.16}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.23}, {'connected_gene': 'SPATA12', 'score': 0.2}]
chr3	GH03I056988	56988800	56990175	1.23	[{'connected_gene': 'ARHGEF3', 'score': 11.43}, {'connected_gene': 'APPL1', 'score': 9.16}, {'connected_gene': 'HESX1', 'score': 9.16}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.25}, {'connected_gene': 'SPATA12', 'score': 0.19}]
chr3	GH03I056986	56986000	56986400	0.38	[{'connected_gene': 'ARHGEF3', 'score': 11.43}, {'connected_gene': 'APPL1', 'score': 9.16}, {'connected_gene': 'HESX1', 'score': 9.16}, {'connected_gene': 'ARHGEF3-AS1', 'score': 0.25}, {'connected_gene': 'SPATA12', 'score': 0.19}]
chr3	GH03I057594	57594549	57600593	2.3	[{'connected_gene': 'ARF4', 'score': 565.34}, {'connected_gene': 'GC03P057599', 'score': 550.77}, {'connected_gene': 'ARF4-AS1', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 23.78}, {'connected_gene': 'FAM208A', 'score': 20.42}, {'connected_gene': 'DENND6A-AS1', 'score': 11.53}, {'connected_gene': 'PDE12', 'score': 11.29}, {'connected_gene': 'DENND6A-DT', 'score': 10.73}, {'connected_gene': 'APPL1', 'score': 9.85}, {'connected_gene': 'HESX1', 'score': 9.85}, {'connected_gene': 'FLNB', 'score': 9.84}, {'connected_gene': 'DNAH12', 'score': 5.55}, {'connected_gene': 'ABHD6', 'score': 5.46}, {'connected_gene': 'IL17RD', 'score': 4.7}]
chr3	GH03I057158	57158551	57162597	1.1	[{'connected_gene': 'CCDC66', 'score': 15.47}, {'connected_gene': 'FAM208A', 'score': 11.79}, {'connected_gene': 'IL17RD', 'score': 11.42}, {'connected_gene': 'APPL1', 'score': 10.61}, {'connected_gene': 'HESX1', 'score': 10.61}, {'connected_gene': 'ASB14', 'score': 10.26}, {'connected_gene': 'DNAH12', 'score': 10.19}, {'connected_gene': 'SLMAP', 'score': 4.02}, {'connected_gene': 'LOC105377101', 'score': 0.44}]
chr3	GH03I057196	57196401	57197599	0.62	[{'connected_gene': 'APPL1', 'score': 18.9}, {'connected_gene': 'HESX1', 'score': 11.96}, {'connected_gene': 'IL17RD', 'score': 11.04}, {'connected_gene': 'PDE12', 'score': 10.41}, {'connected_gene': 'ASB14', 'score': 10.35}, {'connected_gene': 'DNAH12', 'score': 10.25}, {'connected_gene': 'ARHGEF3', 'score': 9.59}, {'connected_gene': 'GC03P057200', 'score': 0.77}, {'connected_gene': 'GC03P057176', 'score': 0.34}]
chr3	GH03I057225	57225893	57229910	2.04	[{'connected_gene': 'APPL1', 'score': 556.25}, {'connected_gene': 'HESX1', 'score': 550.77}, {'connected_gene': 'GC03M057226', 'score': 550.77}, {'connected_gene': 'FAM208A', 'score': 9.87}, {'connected_gene': 'GC03P057230', 'score': 0.77}, {'connected_gene': 'GC03P057200', 'score': 0.31}]
chr3	GH03I057576	57576376	57576528	0.62	[{'connected_gene': 'DENND6A', 'score': 19.77}, {'connected_gene': 'PDE12', 'score': 16.85}, {'connected_gene': 'APPL1', 'score': 11.67}, {'connected_gene': 'DENND6A-DT', 'score': 10.38}, {'connected_gene': 'HESX1', 'score': 9.6}, {'connected_gene': 'SLMAP', 'score': 4.09}, {'connected_gene': 'GC03P057599', 'score': 0.34}, {'connected_gene': 'ARF4', 'score': 0.34}]
chr3	GH03I057555	57555074	57558445	2.11	[{'connected_gene': 'PDE12', 'score': 561.62}, {'connected_gene': 'GC03M057554', 'score': 550.77}, {'connected_gene': 'DENND6A', 'score': 25.93}, {'connected_gene': 'APPL1', 'score': 22.1}, {'connected_gene': 'CCDC66', 'score': 16.81}, {'connected_gene': 'FAM208A', 'score': 16.28}, {'connected_gene': 'FLNB-AS1', 'score': 14.35}, {'connected_gene': 'FLNB', 'score': 13.57}, {'connected_gene': 'DENND6A-DT', 'score': 10.21}, {'connected_gene': 'HESX1', 'score': 9.88}, {'connected_gene': 'ARF4', 'score': 9.16}, {'connected_gene': 'ENSG00000272202', 'score': 4.59}, {'connected_gene': 'GC03P057599', 'score': 0.26}]
chr3	GH03I057593	57593601	57594000	0.31	[{'connected_gene': 'PDE12', 'score': 11.31}, {'connected_gene': 'DENND6A-AS1', 'score': 11.13}, {'connected_gene': 'DENND6A-DT', 'score': 10.24}, {'connected_gene': 'DENND6A', 'score': 10.24}, {'connected_gene': 'APPL1', 'score': 9.29}, {'connected_gene': 'HESX1', 'score': 9.29}, {'connected_gene': 'ARF4', 'score': 7.22}, {'connected_gene': 'GC03P057599', 'score': 0.77}]
chr3	GH03I057330	57330804	57332180	0.2	[{'connected_gene': 'ASB14', 'score': 11.4}, {'connected_gene': 'DNAH12', 'score': 11.2}, {'connected_gene': 'APPL1', 'score': 9.86}, {'connected_gene': 'HESX1', 'score': 9.86}, {'connected_gene': 'ARF4', 'score': 5.53}, {'connected_gene': 'GC03P057200', 'score': 0.12}, {'connected_gene': 'GC03P057493', 'score': 0.1}]
chr3	GH03I057154	57154240	57155740	0.38	[{'connected_gene': 'LOC105377101', 'score': 550.77}, {'connected_gene': 'IL17RD', 'score': 11.25}, {'connected_gene': 'ARHGEF3', 'score': 10.66}, {'connected_gene': 'APPL1', 'score': 10.5}, {'connected_gene': 'HESX1', 'score': 10.5}, {'connected_gene': 'ASB14', 'score': 9.9}, {'connected_gene': 'DNAH12', 'score': 9.83}, {'connected_gene': 'SLMAP', 'score': 4.01}]
chr3	GH03I057149	57149786	57154203	1.03	[{'connected_gene': 'LOC105377101', 'score': 550.77}, {'connected_gene': 'IL17RD', 'score': 11.23}, {'connected_gene': 'APPL1', 'score': 10.89}, {'connected_gene': 'HESX1', 'score': 10.89}, {'connected_gene': 'ARHGEF3', 'score': 10.67}, {'connected_gene': 'ASB14', 'score': 9.89}, {'connected_gene': 'DNAH12', 'score': 9.83}, {'connected_gene': 'SLMAP', 'score': 4.01}, {'connected_gene': 'RPL19P2', 'score': 0.37}]
chr3	GH03I057093	57093093	57096379	0.63	[{'connected_gene': 'PIR55494', 'score': 550.77}, {'connected_gene': 'SPATA12', 'score': 11.43}, {'connected_gene': 'APPL1', 'score': 10.02}, {'connected_gene': 'HESX1', 'score': 10.02}, {'connected_gene': 'ASB14', 'score': 9.93}, {'connected_gene': 'DNAH12', 'score': 9.9}, {'connected_gene': 'DENND6A-DT', 'score': 9.35}, {'connected_gene': 'DENND6A', 'score': 9.35}, {'connected_gene': 'GC03M057078', 'score': 0.39}, {'connected_gene': 'IL17RD', 'score': 0.18}]