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
ENST00000393674	[[175157808, 175158750], [175160144, 175160341], [175162250, 175162369], [175180849, 175180976], [175183914, 175184251], [175204560, 175205415]]	[[175158562, 175158750], [175160144, 175160341], [175162250, 175162369], [175180849, 175180976], [175183914, 175184243]]
ENST00000503293	[[175158119, 175158750], [175160144, 175160341], [175162250, 175162369], [175180849, 175180976], [175183914, 175183946], [175184069, 175184251], [175204560, 175204818]]	[[175158562, 175158750], [175160144, 175160341], [175162250, 175162369], [175180849, 175180976], [175183914, 175183946], [175184069, 175184243]]
ENST00000515664	[[175158509, 175158750], [175160144, 175160341], [175162250, 175162369], [175177177, 175177296], [175180849, 175180976], [175183914, 175184251], [175204560, 175204797]]	[[175177242, 175177296], [175180849, 175180976], [175183914, 175184243]]
ENST00000513696	[[175162273, 175162369], [175180849, 175180976], [175183914, 175184251], [175190204, 175190318], [175204560, 175204814]]	[[175162273, 175162369], [175180849, 175180976], [175183914, 175184243]]
NM_012180	[[175157808, 175158750], [175160144, 175160341], [175162250, 175162369], [175180849, 175180976], [175183914, 175184251], [175204560, 175205402]]	[[175158562, 175158750], [175160144, 175160341], [175162250, 175162369], [175180849, 175180976], [175183914, 175184243]]

Promoter

Chrom	Start	End	Description
chr4	175184004	175184014	CAGE_peak_16_at_FBXO8_5end
chr4	175184030	175184041	CAGE_peak_13_at_FBXO8_5end
chr4	175184051	175184061	CAGE_peak_18_at_FBXO8_5end
chr4	175184162	175184175	CAGE_peak_9_at_FBXO8_5end
chr4	175184180	175184194	CAGE_peak_2_at_FBXO8_5end
chr4	175184203	175184220	CAGE_peak_6_at_FBXO8_5end
chr4	175184241	175184250	CAGE_peak_14_at_FBXO8_5end
chr4	175204717	175204728	CAGE_peak_17_at_FBXO8_5end
chr4	175204734	175204745	CAGE_peak_8_at_FBXO8_5end
chr4	175204765	175204843	CAGE_peak_1_at_FBXO8_5end
chr4	175205376	175205389	CAGE_peak_4_at_FBXO8_5end
chr4	175205407	175205421	CAGE_peak_3_at_FBXO8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I173369	173369000	173373201	2.28	[{'connected_gene': 'SAP30', 'score': 550.77}, {'connected_gene': 'LOC105377540', 'score': 550.77}, {'connected_gene': 'HMGB2', 'score': 13.07}, {'connected_gene': 'ENSG00000248774', 'score': 13.05}, {'connected_gene': 'SCRG1', 'score': 12.41}, {'connected_gene': 'CEP44', 'score': 9.11}, {'connected_gene': 'FBXO8', 'score': 9.11}, {'connected_gene': 'LOC101928383', 'score': 0.39}, {'connected_gene': 'GC04M173250', 'score': 0.06}]
chr4	GH04I174342	174342786	174343015	0.23	[{'connected_gene': 'CEP44', 'score': 16.91}, {'connected_gene': 'FBXO8', 'score': 13.2}, {'connected_gene': 'LOC105377547', 'score': 0.39}]
chr4	GH04I174260	174260190	174260359	0.73	[{'connected_gene': 'CEP44', 'score': 11.6}, {'connected_gene': 'FBXO8', 'score': 11.6}, {'connected_gene': 'LINC02268', 'score': 0.28}]
chr4	GH04I174217	174217201	174218987	1.06	[{'connected_gene': 'CEP44', 'score': 18.6}, {'connected_gene': 'FBXO8', 'score': 10.86}, {'connected_gene': 'LINC02268', 'score': 0.77}, {'connected_gene': 'ENSG00000251213', 'score': 0.25}]
chr4	GH04I174282	174281401	174281600	0.72	[{'connected_gene': 'CEP44', 'score': 8.81}, {'connected_gene': 'FBXO8', 'score': 0.77}, {'connected_gene': 'LINC02268', 'score': 0.21}]
chr4	GH04I174214	174214201	174214400	0.46	[{'connected_gene': 'CEP44', 'score': 16.67}, {'connected_gene': 'FBXO8', 'score': 10.66}, {'connected_gene': 'LINC02268', 'score': 0.44}, {'connected_gene': 'ENSG00000251213', 'score': 0.25}]
chr4	GH04I174281	174281995	174285533	2.27	[{'connected_gene': 'CEP44', 'score': 589.27}, {'connected_gene': 'FBXO8', 'score': 550.77}]
chr4	GH04I174340	174340596	174340777	0.49	[{'connected_gene': 'CEP44', 'score': 18.78}, {'connected_gene': 'LOC105377547', 'score': 0.39}, {'connected_gene': 'FBXO8', 'score': 0.22}]
chr4	GH04I173374	173374001	173374200	0.31	[{'connected_gene': 'HMGB2', 'score': 13.07}, {'connected_gene': 'ENSG00000248774', 'score': 13.05}, {'connected_gene': 'SCRG1', 'score': 12.41}, {'connected_gene': 'FBXO8', 'score': 9.11}, {'connected_gene': 'CEP44', 'score': 9.1}, {'connected_gene': 'SAP30', 'score': 0.77}, {'connected_gene': 'LOC105377540', 'score': 0.77}, {'connected_gene': 'LOC101928383', 'score': 0.39}, {'connected_gene': 'GC04M173250', 'score': 0.06}]
chr4	GH04I173366	173366886	173368445	0.85	[{'connected_gene': 'HMGB2', 'score': 13.58}, {'connected_gene': 'ENSG00000248774', 'score': 13.56}, {'connected_gene': 'SCRG1', 'score': 12.79}, {'connected_gene': 'RNU6-1096P', 'score': 10.19}, {'connected_gene': 'CEP44', 'score': 9.11}, {'connected_gene': 'FBXO8', 'score': 9.11}, {'connected_gene': 'SAP30', 'score': 0.77}, {'connected_gene': 'LOC105377540', 'score': 0.77}, {'connected_gene': 'GC04P173358', 'score': 0.44}, {'connected_gene': 'GC04M173250', 'score': 0.06}]
chr4	GH04I174559	174559121	174561416	0.2	[{'connected_gene': 'LOC105377548', 'score': 10.56}, {'connected_gene': 'CEP44', 'score': 9.24}, {'connected_gene': 'FBXO8', 'score': 9.24}, {'connected_gene': 'HPGD', 'score': 7.96}, {'connected_gene': 'LOC100419741', 'score': 0.37}, {'connected_gene': 'LOC105377549', 'score': 0.25}]
chr4	GH04I174341	174341178	174341207	0.33	[{'connected_gene': 'LOC105377547', 'score': 0.39}, {'connected_gene': 'FBXO8', 'score': 0.22}]
chr4	GH04I174334	174334710	174334859	0.57	[{'connected_gene': 'LOC105377547', 'score': 0.37}, {'connected_gene': 'FBXO8', 'score': 0.23}]
chr4	GH04I174423	174423001	174424169	1.12	[{'connected_gene': 'MIR4276', 'score': 550.77}, {'connected_gene': 'CEP44', 'score': 20.76}, {'connected_gene': 'FBXO8', 'score': 10.47}, {'connected_gene': 'ENSG00000261646', 'score': 10.32}, {'connected_gene': 'LINC02268', 'score': 4.79}, {'connected_gene': 'ENSG00000249875', 'score': 0.25}]
chr4	GH04I174360	174360665	174360988	0.22	[{'connected_gene': 'GC04P174360', 'score': 550.77}, {'connected_gene': 'CEP44', 'score': 23.85}, {'connected_gene': 'FBXO8', 'score': 14.48}, {'connected_gene': 'LOC105377547', 'score': 0.44}, {'connected_gene': 'ENSG00000249875', 'score': 0.37}]