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
ENST00000456150	[[47603728, 47604251], [47610641, 47610717], [47614175, 47614364], [47618322, 47619623]]	[[47604089, 47604251], [47610641, 47610717], [47614175, 47614364], [47618322, 47619101]]
ENST00000383738	[[47603728, 47604251], [47610560, 47610717], [47614175, 47614364], [47618322, 47619418], [47620086, 47622282]]	[[47604089, 47604251], [47610560, 47610717], [47614175, 47614364], [47618322, 47619418], [47620086, 47620183]]
ENST00000264723	[[47603728, 47604251], [47610641, 47610717], [47614175, 47614364], [47618322, 47619418], [47620086, 47622282]]	[[47604089, 47604251], [47610641, 47610717], [47614175, 47614364], [47618322, 47619418], [47620086, 47620183]]
ENST00000465441	[[47619176, 47619418], [47621379, 47621730]]	None
NM_001206943	[[47603727, 47604251], [47610560, 47610717], [47614175, 47614364], [47618322, 47619418], [47620086, 47620359]]	[[47604089, 47604251], [47610560, 47610717], [47614175, 47614364], [47618322, 47619418], [47620086, 47620183]]
NM_006574	[[47603727, 47604251], [47610641, 47610717], [47614175, 47614364], [47618322, 47619418], [47620086, 47620359]]	[[47604089, 47604251], [47610641, 47610717], [47614175, 47614364], [47618322, 47619418], [47620086, 47620183]]
NM_001206944	[[47603727, 47604251], [47614175, 47614364], [47618322, 47619418], [47620086, 47620359]]	[[47604199, 47604251], [47614175, 47614364], [47618322, 47619418], [47620086, 47620183]]
NM_001206945	[[47603727, 47604251], [47610560, 47610717], [47614175, 47614364], [47618322, 47619418], [47621379, 47621730]]	[[47604089, 47604251], [47610560, 47610717], [47614175, 47614364], [47618322, 47619101]]
NM_001206942	[[47603727, 47604251], [47610641, 47610717], [47614175, 47614364], [47618322, 47619418], [47621379, 47621730]]	[[47604089, 47604251], [47610641, 47610717], [47614175, 47614364], [47618322, 47619101]]

Promoter

Chrom	Start	End	Description
chr3	47620292	47620315	CAGE_peak_2_at_CSPG5_5end
chr3	47620323	47620366	CAGE_peak_1_at_CSPG5_5end
chr3	47620389	47620409	CAGE_peak_3_at_CSPG5_5end
chr3	47620683	47620695	CAGE_peak_4_at_CSPG5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I047511	47511506	47514201	2.08	[{'connected_gene': 'ELP6', 'score': 550.77}, {'connected_gene': 'SETD2', 'score': 40.79}, {'connected_gene': 'NME6', 'score': 36.21}, {'connected_gene': 'MRPS18AP1', 'score': 30.71}, {'connected_gene': 'ZNF589', 'score': 28.64}, {'connected_gene': 'PTPN23', 'score': 23.28}, {'connected_gene': 'ATRIP', 'score': 23.0}, {'connected_gene': 'CCDC12', 'score': 21.85}, {'connected_gene': 'FCF1P2', 'score': 18.76}, {'connected_gene': 'BOLA2P2', 'score': 13.34}, {'connected_gene': 'NBEAL2', 'score': 12.75}, {'connected_gene': 'SCAP', 'score': 7.1}, {'connected_gene': 'PRSS45', 'score': 5.76}, {'connected_gene': 'CSPG5', 'score': 4.13}, {'connected_gene': 'GC03M047501', 'score': 0.39}, {'connected_gene': 'GC03M047502', 'score': 0.39}]
chr3	GH03I047429	47429072	47430700	0.66	[{'connected_gene': 'ELP6', 'score': 11.67}, {'connected_gene': 'SCAP', 'score': 11.49}, {'connected_gene': 'PTPN23', 'score': 11.11}, {'connected_gene': 'CSPG5', 'score': 10.86}, {'connected_gene': 'DHX30', 'score': 9.69}, {'connected_gene': 'NBEAL2', 'score': 9.36}, {'connected_gene': 'PTH1R', 'score': 6.6}, {'connected_gene': 'PIR43961', 'score': 0.39}, {'connected_gene': 'GC03M047419', 'score': 0.39}, {'connected_gene': 'ENSG00000276925', 'score': 0.28}]
chr3	GH03I047159	47159601	47160000	0.75	[{'connected_gene': 'SETD2', 'score': 1.98}, {'connected_gene': 'CSPG5', 'score': 1.31}, {'connected_gene': 'MRPL57P3', 'score': 0.12}]
chr3	GH03I046924	46924839	46940733	1.71	[{'connected_gene': 'NBEAL2', 'score': 28.24}, {'connected_gene': 'PTH1R', 'score': 18.62}, {'connected_gene': 'CCDC12', 'score': 18.47}, {'connected_gene': 'MYL3', 'score': 11.48}, {'connected_gene': 'CSPG5', 'score': 5.35}, {'connected_gene': 'KLHL18', 'score': 3.33}, {'connected_gene': 'SETD2', 'score': 1.69}, {'connected_gene': 'ENSG00000273682', 'score': 0.39}, {'connected_gene': 'GC03P046964', 'score': 0.29}]
chr3	GH03I047432	47432931	47436143	0.56	[{'connected_gene': 'NBEAL2', 'score': 12.07}, {'connected_gene': 'SCAP', 'score': 12.03}, {'connected_gene': 'ELP6', 'score': 11.68}, {'connected_gene': 'PTPN23', 'score': 11.09}, {'connected_gene': 'CSPG5', 'score': 10.86}, {'connected_gene': 'DHX30', 'score': 9.69}, {'connected_gene': 'PTH1R', 'score': 6.52}, {'connected_gene': 'PIR43961', 'score': 0.37}, {'connected_gene': 'GC03M047419', 'score': 0.37}, {'connected_gene': 'ENSG00000276925', 'score': 0.28}]
chr3	GH03I046941	46941558	46951399	1.74	[{'connected_gene': 'NBEAL2', 'score': 34.1}, {'connected_gene': 'CCDC12', 'score': 19.09}, {'connected_gene': 'PTH1R', 'score': 18.41}, {'connected_gene': 'MYL3', 'score': 11.23}, {'connected_gene': 'SCAP', 'score': 10.97}, {'connected_gene': 'KLHL18', 'score': 8.96}, {'connected_gene': 'CSPG5', 'score': 5.71}, {'connected_gene': 'LRRC2', 'score': 5.26}, {'connected_gene': 'PRSS45', 'score': 5.04}, {'connected_gene': 'SETD2', 'score': 4.86}, {'connected_gene': 'BOLA2P2', 'score': 4.72}, {'connected_gene': 'PTPN23', 'score': 4.58}, {'connected_gene': 'KIF9', 'score': 1.58}, {'connected_gene': 'GC03P046964', 'score': 0.37}, {'connected_gene': 'ENSG00000273682', 'score': 0.31}]
chr3	GH03I046952	46952202	46961828	1.51	[{'connected_gene': 'NBEAL2', 'score': 30.63}, {'connected_gene': 'CCDC12', 'score': 16.08}, {'connected_gene': 'PTH1R', 'score': 7.44}, {'connected_gene': 'KLHL18', 'score': 6.97}, {'connected_gene': 'PRSS45', 'score': 6.95}, {'connected_gene': 'CSPG5', 'score': 4.92}, {'connected_gene': 'BOLA2P2', 'score': 4.33}, {'connected_gene': 'SETD2', 'score': 3.73}, {'connected_gene': 'GC03P046964', 'score': 0.44}, {'connected_gene': 'ENSG00000273682', 'score': 0.28}]
chr3	GH03I047096	47096069	47097615	0.38	[{'connected_gene': 'NBEAL2', 'score': 15.59}, {'connected_gene': 'CSPG5', 'score': 3.9}, {'connected_gene': 'MRPL57P3', 'score': 0.2}, {'connected_gene': 'SETD2', 'score': 0.2}]
chr3	GH03I047613	47613557	47614008	0.2	[{'connected_gene': 'CSPG5', 'score': 11.48}, {'connected_gene': 'ENSG00000214773', 'score': 0.44}, {'connected_gene': 'GC03M047649', 'score': 0.28}, {'connected_gene': 'SMARCC1', 'score': 0.1}]
chr3	GH03I047578	47578000	47579201	1.55	[{'connected_gene': 'CSPG5', 'score': 550.77}, {'connected_gene': 'RN7SL870P', 'score': 0.37}]
chr3	GH03I047536	47536185	47536461	0.25	[{'connected_gene': 'CSPG5', 'score': 10.0}, {'connected_gene': 'LOC105377074', 'score': 0.77}, {'connected_gene': 'RN7SL870P', 'score': 0.34}]