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
ENST00000591513	[[42923720, 42923794], [42925427, 42925620], [42926621, 42926756], [42927699, 42927844]]	[[42925520, 42925620], [42926621, 42926756], [42927699, 42927764]]
ENST00000590423	[[42925265, 42925285], [42925427, 42925620], [42926473, 42926581]]	None
ENST00000253410	[[42925269, 42925620], [42926621, 42926756], [42927699, 42927848]]	[[42925520, 42925620], [42926621, 42926756], [42927699, 42927764]]
ENST00000587021	[[42925308, 42925620], [42927699, 42927844]]	[[42925520, 42925620], [42927699, 42927764]]
ENST00000586911	[[42925578, 42925620], [42926473, 42926756], [42927699, 42927844]]	[[42925578, 42925620], [42926473, 42926553]]
NM_001271880	[[42923720, 42923794], [42925427, 42925620], [42926621, 42926756], [42927699, 42927848]]	[[42925520, 42925620], [42926621, 42926756], [42927699, 42927764]]
NR_073504	[[42925269, 42925620], [42927699, 42927848]]	None
NM_016438	[[42925269, 42925620], [42926621, 42926756], [42927699, 42927848]]	[[42925520, 42925620], [42926621, 42926756], [42927699, 42927764]]

Promoter

Chrom	Start	End	Description
chr17	42925242	42925265	CAGE_peak_1_at_HIGD1B_5end
chr17	42925273	42925286	CAGE_peak_2_at_HIGD1B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I045340	45340998	45343171	1.22	[{'connected_gene': 'MAP3K14', 'score': 11.94}, {'connected_gene': 'SPATA32', 'score': 11.4}, {'connected_gene': 'FMNL1', 'score': 10.7}, {'connected_gene': 'HIGD1B', 'score': 4.75}, {'connected_gene': 'NMT1', 'score': 4.58}, {'connected_gene': 'RNA5SP443', 'score': 0.39}, {'connected_gene': 'GC17M045328', 'score': 0.39}, {'connected_gene': 'LOC105371796', 'score': 0.34}]
chr17	GH17I045089	45089928	45094483	1.54	[{'connected_gene': 'DCAKD', 'score': 34.93}, {'connected_gene': 'PLCD3', 'score': 23.25}, {'connected_gene': 'GFAP', 'score': 16.99}, {'connected_gene': 'NMT1', 'score': 16.62}, {'connected_gene': 'ACBD4', 'score': 13.52}, {'connected_gene': 'HEXIM1', 'score': 13.48}, {'connected_gene': 'HIGD1B', 'score': 2.63}, {'connected_gene': 'ADAM11', 'score': 1.31}, {'connected_gene': 'MIR6784', 'score': 0.34}, {'connected_gene': 'ENSG00000200888', 'score': 0.34}]
chr17	GH17I044818	44818698	44822091	1.36	[{'connected_gene': 'UBTF', 'score': 107.23}, {'connected_gene': 'ASB16-AS1', 'score': 91.05}, {'connected_gene': 'TMUB2', 'score': 44.64}, {'connected_gene': 'GPATCH8', 'score': 28.76}, {'connected_gene': 'GJC1', 'score': 28.39}, {'connected_gene': 'MPP2', 'score': 22.42}, {'connected_gene': 'ENSG00000266918', 'score': 19.2}, {'connected_gene': 'LINC02210', 'score': 18.56}, {'connected_gene': 'ENSG00000260793', 'score': 14.42}, {'connected_gene': 'EFTUD2', 'score': 14.08}, {'connected_gene': 'HIGD1B', 'score': 12.71}, {'connected_gene': 'ENSG00000224505', 'score': 12.42}, {'connected_gene': 'GFAP', 'score': 10.66}, {'connected_gene': 'DCAKD', 'score': 10.26}, {'connected_gene': 'C1QL1', 'score': 10.19}, {'connected_gene': 'MEIOC', 'score': 9.79}, {'connected_gene': 'CCDC43', 'score': 9.72}, {'connected_gene': 'ENSG00000267505', 'score': 9.29}, {'connected_gene': 'FAM187A', 'score': 7.7}, {'connected_gene': 'GC17M044778', 'score': 0.44}, {'connected_gene': 'PIR52410', 'score': 0.37}]
chr17	GH17I044842	44842002	44845091	0.72	[{'connected_gene': 'HIGD1B', 'score': 550.77}, {'connected_gene': 'EFTUD2', 'score': 20.58}, {'connected_gene': 'FAM187A', 'score': 12.92}, {'connected_gene': 'GFAP', 'score': 11.07}, {'connected_gene': 'C1QL1', 'score': 10.29}, {'connected_gene': 'MEIOC', 'score': 9.78}, {'connected_gene': 'ENSG00000267505', 'score': 8.68}, {'connected_gene': 'GJC1', 'score': 0.39}]
chr17	GH17I044846	44846280	44846339	0.5	[{'connected_gene': 'HIGD1B', 'score': 550.77}, {'connected_gene': 'GFAP', 'score': 11.07}, {'connected_gene': 'C1QL1', 'score': 10.25}, {'connected_gene': 'GC17P044850', 'score': 0.77}]
chr17	GH17I044847	44847864	44847923	0.68	[{'connected_gene': 'HIGD1B', 'score': 550.77}, {'connected_gene': 'GC17P044850', 'score': 0.77}]
chr17	GH17I044781	44781358	44783032	0.94	[{'connected_gene': 'ADAM11', 'score': 20.47}, {'connected_gene': 'DBF4B', 'score': 13.61}, {'connected_gene': 'GJC1', 'score': 12.67}, {'connected_gene': 'HIGD1B', 'score': 12.02}, {'connected_gene': 'EFTUD2', 'score': 11.27}, {'connected_gene': 'CCDC103', 'score': 11.27}, {'connected_gene': 'FAM187A', 'score': 11.27}, {'connected_gene': 'GFAP', 'score': 11.15}, {'connected_gene': 'MEIOC', 'score': 10.45}, {'connected_gene': 'C1QL1', 'score': 10.24}, {'connected_gene': 'ENSG00000267505', 'score': 7.12}, {'connected_gene': 'GC17P044768', 'score': 0.39}, {'connected_gene': 'GC17M044778', 'score': 0.25}]
chr17	GH17I044957	44957592	44957978	0.71	[{'connected_gene': 'GFAP', 'score': 21.73}, {'connected_gene': 'HIGD1B', 'score': 12.67}, {'connected_gene': 'ADAM11', 'score': 5.36}, {'connected_gene': 'ACBD4', 'score': 1.74}, {'connected_gene': 'DCAKD', 'score': 1.49}, {'connected_gene': 'GC17P044955', 'score': 0.77}, {'connected_gene': 'GC17P044954', 'score': 0.77}, {'connected_gene': 'C1QL1', 'score': 0.39}]
chr17	GH17I044831	44831953	44832102	0.49	[{'connected_gene': 'GJC1', 'score': 550.77}, {'connected_gene': 'EFTUD2', 'score': 12.55}, {'connected_gene': 'FAM187A', 'score': 11.75}, {'connected_gene': 'HIGD1B', 'score': 0.39}]
chr17	GH17I044784	44784274	44784549	0.24	[{'connected_gene': 'GJC1', 'score': 12.67}, {'connected_gene': 'HIGD1B', 'score': 12.02}, {'connected_gene': 'GFAP', 'score': 11.15}, {'connected_gene': 'MEIOC', 'score': 10.45}, {'connected_gene': 'C1QL1', 'score': 10.24}, {'connected_gene': 'ENSG00000267505', 'score': 0.44}, {'connected_gene': 'GC17P044768', 'score': 0.37}, {'connected_gene': 'GC17M044778', 'score': 0.26}]
chr17	GH17I044832	44832993	44833140	0.31	[{'connected_gene': 'GJC1', 'score': 0.77}, {'connected_gene': 'HIGD1B', 'score': 0.39}]
chr17	GH17I045168	45168842	45174627	1.64	[{'connected_gene': 'LOC105371795', 'score': 557.31}, {'connected_gene': 'LINC02210', 'score': 18.24}, {'connected_gene': 'DCAKD', 'score': 10.44}, {'connected_gene': 'UBTF', 'score': 9.85}, {'connected_gene': 'GPATCH8', 'score': 9.65}, {'connected_gene': 'HEXIM1', 'score': 8.84}, {'connected_gene': 'SLC25A39', 'score': 6.45}, {'connected_gene': 'PLCD3', 'score': 6.1}, {'connected_gene': 'DBF4B', 'score': 5.45}, {'connected_gene': 'ADAM11', 'score': 2.55}, {'connected_gene': 'HIGD1B', 'score': 1.48}, {'connected_gene': 'GFAP', 'score': 1.32}, {'connected_gene': 'HEXIM2', 'score': 0.39}, {'connected_gene': 'ENSG00000224505', 'score': 0.39}]
chr17	GH17I044822	44822223	44823739	0.79	[{'connected_gene': 'FAM187A', 'score': 13.61}, {'connected_gene': 'HIGD1B', 'score': 12.71}, {'connected_gene': 'GFAP', 'score': 10.67}, {'connected_gene': 'C1QL1', 'score': 10.19}, {'connected_gene': 'MEIOC', 'score': 9.8}, {'connected_gene': 'CCDC43', 'score': 9.72}, {'connected_gene': 'GC17M044778', 'score': 0.44}, {'connected_gene': 'GJC1', 'score': 0.44}, {'connected_gene': 'PIR52410', 'score': 0.37}]
chr17	GH17I044720	44720613	44720880	0.3	[{'connected_gene': 'RPL6P26', 'score': 550.77}, {'connected_gene': 'RN7SL819P', 'score': 550.77}, {'connected_gene': 'GC17M044720', 'score': 550.77}, {'connected_gene': 'CCDC43', 'score': 12.09}, {'connected_gene': 'MEIOC', 'score': 11.03}, {'connected_gene': 'HIGD1B', 'score': 10.82}, {'connected_gene': 'DBF4B', 'score': 0.39}, {'connected_gene': 'PIR61260', 'score': 0.31}]
chr17	GH17I044749	44749409	44750357	0.38	[{'connected_gene': 'PIR61260', 'score': 550.77}, {'connected_gene': 'DBF4B', 'score': 27.92}, {'connected_gene': 'HIGD1B', 'score': 11.35}, {'connected_gene': 'GJC1', 'score': 11.02}, {'connected_gene': 'GFAP', 'score': 10.57}, {'connected_gene': 'CCDC43', 'score': 10.34}, {'connected_gene': 'MEIOC', 'score': 10.21}, {'connected_gene': 'FZD2', 'score': 5.88}, {'connected_gene': 'ADAM11', 'score': 0.44}]