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
ENST00000254878	[[99114571, 99115132], [99116716, 99116772], [99118165, 99118234], [99118499, 99118554], [99120873, 99120979], [99129259, 99129469]]	[[99115069, 99115132], [99116716, 99116772], [99118165, 99118234], [99118499, 99118554], [99120873, 99120979], [99129259, 99129324]]
ENST00000522791	[[99114624, 99115132], [99116716, 99116772], [99118165, 99118234], [99118499, 99118554], [99120873, 99120941], [99129259, 99129387]]	[[99120877, 99120941], [99129259, 99129324]]
ENST00000520507	[[99114666, 99115132], [99116716, 99116772], [99118165, 99118234], [99118499, 99118554], [99120873, 99120996], [99129259, 99129338]]	[[99115069, 99115132], [99116716, 99116772], [99118165, 99118234], [99118499, 99118554], [99120873, 99120996], [99129259, 99129338]]
ENST00000521560	[[99114691, 99115132], [99116716, 99116772], [99118165, 99118234], [99118499, 99118554], [99129259, 99129399]]	[[99115069, 99115132], [99116716, 99116772], [99118165, 99118234], [99118499, 99118554], [99129259, 99129399]]
ENST00000519608	[[99114846, 99115132], [99116716, 99116772], [99118165, 99118234], [99118499, 99118859]]	None
ENST00000519155	[[99125865, 99126053], [99129259, 99129342]]	None
NM_005836	[[99114566, 99115132], [99116716, 99116772], [99118165, 99118234], [99118499, 99118554], [99120873, 99120979], [99129259, 99129418]]	[[99115069, 99115132], [99116716, 99116772], [99118165, 99118234], [99118499, 99118554], [99120873, 99120979], [99129259, 99129324]]

Promoter

Chrom	Start	End	Description
chr8	99129350	99129379	CAGE_peak_2_at_HRSP12_5end
chr8	99129384	99129407	CAGE_peak_1_at_HRSP12_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I098151	98151119	98154368	0.89	[{'connected_gene': 'MATN2', 'score': 5.01}, {'connected_gene': 'RIDA', 'score': 4.98}, {'connected_gene': 'GC08P098161', 'score': 0.44}, {'connected_gene': 'GC08P098141', 'score': 0.39}, {'connected_gene': 'POP1', 'score': 0.28}, {'connected_gene': 'GC08P097993', 'score': 0.1}]
chr8	GH08I098085	98085581	98086000	1.03	[{'connected_gene': 'ERICH5', 'score': 11.79}, {'connected_gene': 'RIDA', 'score': 10.94}, {'connected_gene': 'POP1', 'score': 10.94}, {'connected_gene': 'MATN2', 'score': 10.74}, {'connected_gene': 'RPS23P1', 'score': 10.74}, {'connected_gene': 'RPL30', 'score': 10.7}, {'connected_gene': 'SNORA72', 'score': 10.68}, {'connected_gene': 'ENSG00000245970', 'score': 10.68}, {'connected_gene': 'GC08P098099', 'score': 0.39}, {'connected_gene': 'GC08P097993', 'score': 0.16}]
chr8	GH08I098116	98116001	98119168	2.02	[{'connected_gene': 'RIDA', 'score': 555.74}, {'connected_gene': 'POP1', 'score': 550.77}, {'connected_gene': 'RNU6-703P', 'score': 11.36}, {'connected_gene': 'RPL30', 'score': 11.35}, {'connected_gene': 'GC08M098127', 'score': 0.39}, {'connected_gene': 'GC08P097993', 'score': 0.13}]
chr8	GH08I098113	98113213	98113322	0.52	[{'connected_gene': 'RIDA', 'score': 0.77}, {'connected_gene': 'GC08P098099', 'score': 0.39}, {'connected_gene': 'GC08P097993', 'score': 0.13}]
chr8	GH08I098100	98100253	98100260	0.43	[{'connected_gene': 'GC08P098099', 'score': 550.77}, {'connected_gene': 'ERICH5', 'score': 11.47}, {'connected_gene': 'MATN2', 'score': 10.14}, {'connected_gene': 'RPS23P1', 'score': 10.14}, {'connected_gene': 'RIDA', 'score': 0.37}, {'connected_gene': 'GC08P097993', 'score': 0.14}]