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
ENST00000393684	[[77940739, 77942455], [77944584, 77944668], [77944917, 77945058], [77948664, 77949010], [77950665, 77950908], [77951019, 77951262], [77964566, 77964671], [77964995, 77965159]]	[[77941937, 77942455], [77944584, 77944668], [77944917, 77945058], [77948664, 77949010], [77950665, 77950908], [77951019, 77951139]]
ENST00000216481	[[77940739, 77942455], [77944584, 77944668], [77944917, 77945058], [77948664, 77949010], [77950665, 77950908], [77951019, 77951262], [77964566, 77964671], [77964995, 77965159]]	[[77964581, 77964671], [77964995, 77965136]]
ENST00000342219	[[77940739, 77942455], [77944584, 77944668], [77944917, 77945058], [77948664, 77949010], [77950665, 77950908], [77951019, 77951262], [77964995, 77965193]]	[[77941937, 77942455], [77944584, 77944668], [77944917, 77945058], [77948664, 77949010], [77950665, 77950908], [77951019, 77951262], [77964995, 77965136]]
ENST00000429906	[[77940739, 77942455], [77944584, 77944668], [77944917, 77945058], [77948664, 77949010], [77950665, 77950908], [77964995, 77965210]]	[[77941937, 77942455], [77944584, 77944668], [77944917, 77945058], [77948664, 77949010], [77950665, 77950908], [77964995, 77965136]]
ENST00000412904	[[77940739, 77942455], [77944584, 77944668], [77944917, 77945058], [77948664, 77949010], [77951019, 77951262], [77964995, 77965210]]	[[77941937, 77942455], [77944584, 77944668], [77944917, 77945058], [77948664, 77949010], [77951019, 77951262], [77964995, 77965136]]
ENST00000493585	[[77941591, 77942455], [77944584, 77944668], [77944917, 77945058], [77950665, 77950908], [77951019, 77951262], [77964995, 77965159]]	[[77942428, 77942455], [77944584, 77944668], [77944917, 77945058], [77950665, 77950908], [77951019, 77951262], [77964995, 77965136]]
ENST00000487738	[[77942182, 77942455], [77944584, 77944668], [77944917, 77945058], [77948664, 77949242]]	None
ENST00000554801	[[77948838, 77949010], [77951019, 77951262], [77964995, 77965159]]	[[77948838, 77949010], [77951019, 77951262], [77964995, 77965136]]
ENST00000471734	[[77948933, 77949010], [77950665, 77950908], [77951019, 77951262], [77964659, 77965009]]	[[77964788, 77965009]]
ENST00000472744	[[77950169, 77950908], [77951019, 77951262], [77964995, 77965150]]	None
ENST00000480979	[[77950742, 77950908], [77951019, 77951262], [77964566, 77965101]]	[[77964788, 77965101]]
NM_199296	[[77940736, 77942455], [77944584, 77944668], [77944917, 77945058], [77948664, 77949010], [77950665, 77950908], [77951019, 77951262], [77964995, 77965210]]	[[77941937, 77942455], [77944584, 77944668], [77944917, 77945058], [77948664, 77949010], [77950665, 77950908], [77951019, 77951262], [77964995, 77965136]]
NM_182509	[[77940736, 77942455], [77944584, 77944668], [77944917, 77945058], [77950665, 77950908], [77951019, 77951262], [77964995, 77965210]]	[[77942428, 77942455], [77944584, 77944668], [77944917, 77945058], [77950665, 77950908], [77951019, 77951262], [77964995, 77965136]]

Promoter

Chrom	Start	End	Description
chr14	77950741	77950750	CAGE_peak_10_at_ISM2_5end
chr14	77950830	77950869	CAGE_peak_3_at_ISM2_5end
chr14	77951114	77951128	CAGE_peak_9_at_ISM2_5end
chr14	77951201	77951226	CAGE_peak_4_at_ISM2_5end
chr14	77965151	77965165	CAGE_peak_1_at_ISM2_5end
chr14	77965317	77965338	CAGE_peak_2_at_ISM2_5end
chr14	77965643	77965654	CAGE_peak_8_at_ISM2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I077528	77528854	77529972	0.49	[{'connected_gene': 'SPTLC2', 'score': 7.74}, {'connected_gene': 'ISM2', 'score': 6.14}, {'connected_gene': 'TMED8', 'score': 5.13}, {'connected_gene': 'GSTZ1', 'score': 5.02}, {'connected_gene': 'RN7SL587P', 'score': 0.37}, {'connected_gene': 'GC14M077506', 'score': 0.34}]
chr14	GH14I077541	77541586	77545009	1.04	[{'connected_gene': 'TMED8', 'score': 15.96}, {'connected_gene': 'VIPAS39', 'score': 11.64}, {'connected_gene': 'AHSA1', 'score': 11.64}, {'connected_gene': 'SAMD15', 'score': 10.23}, {'connected_gene': 'SPTLC2', 'score': 8.01}, {'connected_gene': 'ISM2', 'score': 6.02}, {'connected_gene': 'RN7SL587P', 'score': 0.77}, {'connected_gene': 'GC14M077506', 'score': 0.28}]
chr14	GH14I077502	77502218	77502367	0.8	[{'connected_gene': 'TMED8', 'score': 10.1}, {'connected_gene': 'SAMD15', 'score': 10.1}, {'connected_gene': 'NGB', 'score': 9.19}, {'connected_gene': 'ISM2', 'score': 6.84}, {'connected_gene': 'VIPAS39', 'score': 5.36}, {'connected_gene': 'GC14M077506', 'score': 0.77}]
chr14	GH14I077498	77498798	77499272	1.79	[{'connected_gene': 'ISM2', 'score': 556.37}, {'connected_gene': 'VIPAS39', 'score': 5.29}, {'connected_gene': 'GC14M077506', 'score': 0.44}]
chr14	GH14I077507	77507621	77509363	0.72	[{'connected_gene': 'GC14M077506', 'score': 550.77}, {'connected_gene': 'VIPAS39', 'score': 15.83}, {'connected_gene': 'AHSA1', 'score': 10.88}, {'connected_gene': 'TMED8', 'score': 10.5}, {'connected_gene': 'SAMD15', 'score': 10.5}, {'connected_gene': 'ISM2', 'score': 8.83}, {'connected_gene': 'RN7SL587P', 'score': 0.28}, {'connected_gene': 'SPTLC2', 'score': 0.14}]