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
ENST00000256433	[[44681412, 44682603], [44683806, 44683908], [44702557, 44702745]]	[[44682547, 44682603], [44683806, 44683908], [44702557, 44702648]]
NM_016097	[[44681389, 44682603], [44683806, 44683908], [44702557, 44702745]]	[[44682547, 44682603], [44683806, 44683908], [44702557, 44702648]]

Promoter

Chrom	Start	End	Description
chr18	44702668	44702747	CAGE_peak_1_at_IER3IP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I046768	46768598	46768747	0.2	[{'connected_gene': 'PIAS2', 'score': 10.67}, {'connected_gene': 'IER3IP1', 'score': 5.82}, {'connected_gene': 'ST8SIA5', 'score': 0.44}, {'connected_gene': 'LOC105372097', 'score': 0.39}, {'connected_gene': 'ENSG00000274776', 'score': 0.34}]
chr18	GH18I047149	47149318	47151824	2.01	[{'connected_gene': 'HDHD2', 'score': 562.83}, {'connected_gene': 'IER3IP1', 'score': 11.36}, {'connected_gene': 'KATNAL2', 'score': 5.46}, {'connected_gene': 'ENSG00000267228', 'score': 0.31}, {'connected_gene': 'GC18P047085', 'score': 0.2}]
chr18	GH18I047158	47158570	47158719	0.65	[{'connected_gene': 'HDHD2', 'score': 0.44}, {'connected_gene': 'ENSG00000267228', 'score': 0.37}, {'connected_gene': 'IER3IP1', 'score': 0.37}, {'connected_gene': 'GC18P047085', 'score': 0.19}]
chr18	GH18I046939	46939021	46941077	0.59	[{'connected_gene': 'KATNAL2', 'score': 13.45}, {'connected_gene': 'ELOA3', 'score': 10.93}, {'connected_gene': 'ELOA2', 'score': 10.92}, {'connected_gene': 'IER3IP1', 'score': 8.27}, {'connected_gene': 'HDHD2', 'score': 6.11}, {'connected_gene': 'GC18P046926', 'score': 0.39}, {'connected_gene': 'ELOA3D', 'score': 0.34}]
chr18	GH18I046898	46898798	46900105	0.38	[{'connected_gene': 'ELOA2', 'score': 10.37}, {'connected_gene': 'ELOA3', 'score': 10.37}, {'connected_gene': 'IER3IP1', 'score': 7.75}, {'connected_gene': 'HDHD2', 'score': 6.66}, {'connected_gene': 'ENSG00000279354', 'score': 0.37}, {'connected_gene': 'PIAS2', 'score': 0.34}, {'connected_gene': 'LOC100421737', 'score': 0.26}]
chr18	GH18I047174	47174649	47176999	1.98	[{'connected_gene': 'IER3IP1', 'score': 567.57}, {'connected_gene': 'ENSG00000267228', 'score': 550.77}, {'connected_gene': 'HDHD2', 'score': 23.77}, {'connected_gene': 'KATNAL2', 'score': 5.6}, {'connected_gene': 'GC18P047085', 'score': 0.16}]
chr18	GH18I048160	48160135	48169498	1.64	[{'connected_gene': 'IER3IP1', 'score': 4.34}, {'connected_gene': 'LOC105372104', 'score': 0.77}, {'connected_gene': 'GC18M048170', 'score': 0.44}, {'connected_gene': 'RNU6-708P', 'score': 0.44}, {'connected_gene': 'GC18M048089', 'score': 0.25}, {'connected_gene': 'ZBTB7C', 'score': 0.07}]
chr18	GH18I046754	46754401	46758324	1.44	[{'connected_gene': 'LOC105372097', 'score': 567.23}, {'connected_gene': 'ST8SIA5', 'score': 550.77}, {'connected_gene': 'PIAS2', 'score': 10.39}, {'connected_gene': 'HDHD2', 'score': 6.55}, {'connected_gene': 'IER3IP1', 'score': 5.82}, {'connected_gene': 'RPS21P6', 'score': 0.29}]
chr18	GH18I047184	47184671	47185156	0.87	[{'connected_gene': 'ENSG00000267724', 'score': 22.99}, {'connected_gene': 'HDHD2', 'score': 21.37}, {'connected_gene': 'IER3IP1', 'score': 19.77}, {'connected_gene': 'KATNAL2', 'score': 6.81}, {'connected_gene': 'GC18M047235', 'score': 0.25}, {'connected_gene': 'RNU6-1131P', 'score': 0.25}, {'connected_gene': 'GC18P047085', 'score': 0.15}]
chr18	GH18I046248	46248109	46251922	1.39	[{'connected_gene': 'ENSG00000267724', 'score': 14.36}, {'connected_gene': 'IER3IP1', 'score': 10.14}, {'connected_gene': 'PSTPIP2', 'score': 8.64}, {'connected_gene': 'C18orf25', 'score': 6.7}, {'connected_gene': 'ATP5F1A', 'score': 6.7}, {'connected_gene': 'EPG5', 'score': 2.9}, {'connected_gene': 'GC18P046277', 'score': 0.31}]
chr18	GH18I047944	47944910	47946259	0.77	[{'connected_gene': 'ENSG00000267724', 'score': 14.36}, {'connected_gene': 'IER3IP1', 'score': 10.13}, {'connected_gene': 'SMAD2', 'score': 0.39}, {'connected_gene': 'GC18M047957', 'score': 0.39}]
chr18	GH18I048022	48022490	48024681	1.33	[{'connected_gene': 'ENSG00000267724', 'score': 26.59}, {'connected_gene': 'SMAD2', 'score': 11.03}, {'connected_gene': 'IER3IP1', 'score': 10.13}, {'connected_gene': 'LOC105372101', 'score': 0.2}, {'connected_gene': 'GC18P048133', 'score': 0.14}]
chr18	GH18I048132	48132653	48134872	1	[{'connected_gene': 'GC18P048133', 'score': 550.77}, {'connected_gene': 'RNU6-708P', 'score': 11.54}, {'connected_gene': 'IER3IP1', 'score': 10.13}, {'connected_gene': 'ENSG00000278891', 'score': 0.37}, {'connected_gene': 'GC18M048089', 'score': 0.18}, {'connected_gene': 'ZBTB7C', 'score': 0.06}]
chr18	GH18I047911	47911544	47913600	1.19	[{'connected_gene': 'ENSG00000279366', 'score': 550.77}, {'connected_gene': 'MTCO2P2', 'score': 20.27}, {'connected_gene': 'ENSG00000267724', 'score': 10.85}, {'connected_gene': 'IER3IP1', 'score': 10.35}, {'connected_gene': 'SMAD2', 'score': 0.37}]