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
ENST00000585605	[[5678431, 5678659], [5678785, 5678913], [5679355, 5679407], [5679596, 5679774]]	None
ENST00000587950	[[5678432, 5678659], [5679355, 5679407], [5679596, 5679774], [5680065, 5680263]]	[[5678561, 5678659], [5679355, 5679407], [5679596, 5679774], [5680065, 5680160]]
ENST00000309324	[[5678432, 5678659], [5679355, 5679407], [5679596, 5679774], [5680468, 5680907]]	[[5678561, 5678659], [5679355, 5679407], [5679596, 5679774], [5680468, 5680497]]
ENST00000590389	[[5678842, 5679241], [5679355, 5679407], [5679596, 5679774], [5680065, 5680205]]	[[5679233, 5679241], [5679355, 5679407], [5679596, 5679774], [5680065, 5680160]]
ENST00000587589	[[5678925, 5679241], [5679355, 5679407], [5679596, 5679774], [5680468, 5680499]]	[[5679233, 5679241], [5679355, 5679407], [5679596, 5679774], [5680468, 5680497]]
ENST00000590075	[[5679054, 5679774], [5680468, 5680521]]	None
NM_001308240	[[5678424, 5678659], [5679355, 5679407], [5679596, 5679774], [5680065, 5680261], [5680468, 5680907]]	[[5678561, 5678659], [5679355, 5679407], [5679596, 5679774], [5680065, 5680160]]
NM_205767	[[5678424, 5678659], [5679355, 5679407], [5679596, 5679774], [5680468, 5680907]]	[[5678561, 5678659], [5679355, 5679407], [5679596, 5679774], [5680468, 5680497]]

Promoter

Chrom	Start	End	Description
chr19	5680503	5680541	CAGE_peak_1_at_C19orf70_5end
chr19	5680543	5680554	CAGE_peak_2_at_C19orf70_5end
chr19	5680566	5680571	CAGE_peak_3_at_C19orf70_5end
chr19	5680880	5680890	CAGE_peak_5_at_C19orf70_5end
chr19	5680891	5680951	CAGE_peak_4_at_C19orf70_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I005620	5620377	5626399	2.53	[{'connected_gene': 'SAFB2', 'score': 571.17}, {'connected_gene': 'SAFB', 'score': 570.34}, {'connected_gene': 'RPL36', 'score': 20.24}, {'connected_gene': 'KHSRP', 'score': 14.79}, {'connected_gene': 'DUS3L', 'score': 13.21}, {'connected_gene': 'KDM4B', 'score': 12.81}, {'connected_gene': 'DPP9-AS1', 'score': 12.67}, {'connected_gene': 'C19orf70', 'score': 11.79}, {'connected_gene': 'HSD11B1L', 'score': 11.79}, {'connected_gene': 'GTF2F1', 'score': 11.23}, {'connected_gene': 'RANBP3', 'score': 11.23}, {'connected_gene': 'ENSG00000267571', 'score': 11.09}, {'connected_gene': 'VMAC', 'score': 10.99}, {'connected_gene': 'PTPRS', 'score': 9.85}, {'connected_gene': 'LONP1', 'score': 9.78}, {'connected_gene': 'RFX2', 'score': 1.26}]
chr19	GH19I005696	5696418	5697815	0.84	[{'connected_gene': 'LONP1', 'score': 42.92}, {'connected_gene': 'KHSRP', 'score': 24.85}, {'connected_gene': 'RPL36', 'score': 17.05}, {'connected_gene': 'SAFB2', 'score': 14.92}, {'connected_gene': 'SNRPEP4', 'score': 14.45}, {'connected_gene': 'DUS3L', 'score': 14.31}, {'connected_gene': 'SAFB', 'score': 11.58}, {'connected_gene': 'GC19P005701', 'score': 0.77}, {'connected_gene': 'GC19M005694', 'score': 0.44}, {'connected_gene': 'C19orf70', 'score': 0.37}]
chr19	GH19I005690	5689310	5689499	0.84	[{'connected_gene': 'KHSRP', 'score': 110.1}, {'connected_gene': 'SNRPEP4', 'score': 96.2}, {'connected_gene': 'DUS3L', 'score': 85.63}, {'connected_gene': 'ENSG00000267571', 'score': 71.19}, {'connected_gene': 'SAFB', 'score': 68.57}, {'connected_gene': 'GTF2F1', 'score': 29.17}, {'connected_gene': 'PTPRS', 'score': 28.77}, {'connected_gene': 'SAFB2', 'score': 27.53}, {'connected_gene': 'RANBP3', 'score': 27.07}, {'connected_gene': 'KDM4B', 'score': 22.88}, {'connected_gene': 'RPL36', 'score': 21.51}, {'connected_gene': 'VMAC', 'score': 12.68}, {'connected_gene': 'C19orf70', 'score': 0.44}, {'connected_gene': 'GC19P005701', 'score': 0.39}]
chr19	GH19I005685	5685936	5687937	1.48	[{'connected_gene': 'PTPRS', 'score': 25.43}, {'connected_gene': 'LONP1', 'score': 12.32}, {'connected_gene': 'C19orf70', 'score': 0.44}, {'connected_gene': 'HSD11B1L', 'score': 0.44}, {'connected_gene': 'GC19P005701', 'score': 0.39}, {'connected_gene': 'RPL36', 'score': 0.39}]
chr19	GH19I005679	5679192	5681686	2.08	[{'connected_gene': 'HSD11B1L', 'score': 560.44}, {'connected_gene': 'C19orf70', 'score': 550.77}, {'connected_gene': 'DUS3L', 'score': 44.67}, {'connected_gene': 'SAFB', 'score': 34.45}, {'connected_gene': 'KHSRP', 'score': 32.28}, {'connected_gene': 'ENSG00000267571', 'score': 32.02}, {'connected_gene': 'KDM4B', 'score': 31.52}, {'connected_gene': 'RANBP3', 'score': 31.23}, {'connected_gene': 'SAFB2', 'score': 19.9}, {'connected_gene': 'GTF2F1', 'score': 19.36}, {'connected_gene': 'RPL36', 'score': 18.9}, {'connected_gene': 'ACSBG2', 'score': 16.27}, {'connected_gene': 'TICAM1', 'score': 15.87}, {'connected_gene': 'PTPRS', 'score': 13.18}, {'connected_gene': 'VMAC', 'score': 12.67}, {'connected_gene': 'DPP9', 'score': 9.65}]
chr19	GH19I005689	5689610	5694593	2.13	[{'connected_gene': 'RPL36', 'score': 583.69}, {'connected_gene': 'DUS3L', 'score': 159.5}, {'connected_gene': 'KHSRP', 'score': 148.74}, {'connected_gene': 'ENSG00000267571', 'score': 127.24}, {'connected_gene': 'SAFB', 'score': 119.76}, {'connected_gene': 'SNRPEP4', 'score': 112.63}, {'connected_gene': 'VMAC', 'score': 56.83}, {'connected_gene': 'SAFB2', 'score': 50.22}, {'connected_gene': 'PTPRS', 'score': 49.27}, {'connected_gene': 'KDM4B', 'score': 49.12}, {'connected_gene': 'RANBP3', 'score': 45.38}, {'connected_gene': 'GTF2F1', 'score': 37.35}, {'connected_gene': 'LONP1', 'score': 32.71}, {'connected_gene': 'SLC25A41', 'score': 5.06}, {'connected_gene': 'GC19P005701', 'score': 0.44}, {'connected_gene': 'C19orf70', 'score': 0.39}, {'connected_gene': 'GC19M005694', 'score': 0.39}]
chr19	GH19I005626	5626712	5630039	1.33	[{'connected_gene': 'RPL36', 'score': 28.81}, {'connected_gene': 'SNRPEP4', 'score': 14.92}, {'connected_gene': 'KHSRP', 'score': 12.33}, {'connected_gene': 'C19orf70', 'score': 11.53}, {'connected_gene': 'HSD11B1L', 'score': 11.53}, {'connected_gene': 'ENSG00000267571', 'score': 11.0}, {'connected_gene': 'DUS3L', 'score': 10.62}, {'connected_gene': 'SAFB2', 'score': 0.77}, {'connected_gene': 'SAFB', 'score': 0.44}]