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
ENST00000436909	[[50186828, 50186943], [50187657, 50188170], [50245233, 50245357], [50248131, 50248178], [50249985, 50250106], [50251466, 50251574], [50256216, 50256345], [50257084, 50257298], [50258567, 50258694], [50258801, 50258905], [50259008, 50259196], [50261749, 50261914], [50263062, 50265742]]	[[50186863, 50186943], [50187657, 50188170], [50245233, 50245357], [50248131, 50248178], [50249985, 50250106], [50251466, 50251574], [50256216, 50256345], [50257084, 50257298], [50258567, 50258694], [50258801, 50258905], [50259008, 50259196], [50261749, 50261914], [50263062, 50263239]]
ENST00000561678	[[50187704, 50188170], [50245233, 50245357], [50248131, 50248178], [50249985, 50250106], [50251466, 50251574], [50257084, 50257298], [50258567, 50258694], [50258801, 50258905], [50259008, 50259196], [50261749, 50261914], [50263062, 50264314]]	[[50187778, 50188170], [50245233, 50245357], [50248131, 50248178], [50249985, 50250106], [50251466, 50251574], [50257084, 50257298], [50258567, 50258694], [50258801, 50258905], [50259008, 50259196], [50261749, 50261914], [50263062, 50263239]]
ENST00000357464	[[50187778, 50188030], [50188066, 50188170], [50245233, 50245357], [50248131, 50248178], [50249985, 50250106], [50251466, 50251574], [50256216, 50256345], [50257084, 50257298], [50258567, 50258694], [50258801, 50258905], [50259008, 50259196], [50261749, 50261914], [50263062, 50269221]]	[[50187778, 50188030], [50188066, 50188170], [50245233, 50245357], [50248131, 50248178], [50249985, 50250106], [50251466, 50251574], [50256216, 50256345], [50257084, 50257298], [50258567, 50258694], [50258801, 50258905], [50259008, 50259196], [50261749, 50261914], [50263062, 50263239]]
ENST00000562717	[[50188071, 50188170], [50245233, 50245357], [50248131, 50248178], [50249985, 50250106], [50251466, 50251574], [50256216, 50256345], [50257084, 50257311], [50258567, 50258694], [50258801, 50258905], [50259008, 50259196], [50261749, 50261914], [50263062, 50263108], [50268836, 50269217]]	None
ENST00000573002	[[50248136, 50248178], [50249985, 50250106], [50251466, 50251574], [50256216, 50256345], [50257084, 50257298], [50258567, 50258694], [50258801, 50258922], [50259149, 50259196], [50261749, 50261914], [50263062, 50265742]]	None
NM_001040285	[[50186828, 50186943], [50187657, 50188170], [50245233, 50245357], [50248131, 50248178], [50249985, 50250106], [50251466, 50251574], [50256216, 50256345], [50257084, 50257298], [50258567, 50258694], [50258801, 50258905], [50259149, 50259196], [50261749, 50261914], [50263062, 50269221]]	[[50186863, 50186943], [50187657, 50188170], [50245233, 50245357], [50248131, 50248178], [50249985, 50250106], [50251466, 50251574], [50256216, 50256345], [50257084, 50257298], [50258567, 50258694], [50258801, 50258905], [50259149, 50259196], [50261749, 50261914], [50263062, 50263239]]
NM_001040284	[[50186828, 50186943], [50187657, 50188170], [50245233, 50245357], [50248131, 50248178], [50249985, 50250106], [50251466, 50251574], [50256216, 50256345], [50257084, 50257298], [50258567, 50258694], [50258801, 50258905], [50259008, 50259196], [50261749, 50261914], [50263062, 50269221]]	[[50186863, 50186943], [50187657, 50188170], [50245233, 50245357], [50248131, 50248178], [50249985, 50250106], [50251466, 50251574], [50256216, 50256345], [50257084, 50257298], [50258567, 50258694], [50258801, 50258905], [50259008, 50259196], [50261749, 50261914], [50263062, 50263239]]

Promoter

Chrom	Start	End	Description
chr16	50186811	50186850	CAGE_peak_1_at_PAPD5_5end
chr16	50187159	50187204	CAGE_peak_2_at_PAPD5_5end
chr16	50187206	50187227	CAGE_peak_4_at_PAPD5_5end
chr16	50187238	50187251	CAGE_peak_3_at_PAPD5_5end
chr16	50187384	50187437	CAGE_peak_6_at_PAPD5_5end
chr16	50187556	50187567	CAGE_peak_8_at_PAPD5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I050457	50457802	50459629	1.16	[{'connected_gene': 'PAPD5', 'score': 10.76}, {'connected_gene': 'NOD2', 'score': 4.83}, {'connected_gene': 'GC16P050465', 'score': 0.44}, {'connected_gene': 'ENSG00000260573', 'score': 0.23}]
chr16	GH16I050261	50261694	50262345	0.63	[{'connected_gene': 'PAPD5', 'score': 11.2}, {'connected_gene': 'ENSG00000252526', 'score': 11.19}, {'connected_gene': 'BRD7', 'score': 10.85}, {'connected_gene': 'NKD1', 'score': 4.8}, {'connected_gene': 'GC16P050277', 'score': 0.44}, {'connected_gene': 'ADCY7', 'score': 0.37}]
chr16	GH16I050262	50262741	50263032	0.57	[{'connected_gene': 'PAPD5', 'score': 11.2}, {'connected_gene': 'ENSG00000252526', 'score': 11.19}, {'connected_gene': 'BRD7', 'score': 10.85}, {'connected_gene': 'CNEP1R1', 'score': 10.67}, {'connected_gene': 'GC16P050277', 'score': 0.44}, {'connected_gene': 'ADCY7', 'score': 0.37}]
chr16	GH16I050265	50262604	50262706	0.2	[{'connected_gene': 'PAPD5', 'score': 11.2}, {'connected_gene': 'ENSG00000252526', 'score': 11.19}, {'connected_gene': 'BRD7', 'score': 10.85}, {'connected_gene': 'GC16P050277', 'score': 0.44}, {'connected_gene': 'ADCY7', 'score': 0.37}]
chr16	GH16I050881	50881650	50881759	0.68	[{'connected_gene': 'PAPD5', 'score': 14.2}, {'connected_gene': 'ENSG00000260042', 'score': 0.77}, {'connected_gene': 'LINC02128', 'score': 0.26}, {'connected_gene': 'LINC02187', 'score': 0.26}, {'connected_gene': 'GC16P050955', 'score': 0.19}]
chr16	GH16I050675	50674359	50674851	0.46	[{'connected_gene': 'PAPD5', 'score': 9.79}, {'connected_gene': 'LOC101927272', 'score': 0.44}, {'connected_gene': 'SNX20', 'score': 0.44}]
chr16	GH16I050151	50151808	50156359	2.08	[{'connected_gene': 'PAPD5', 'score': 550.77}, {'connected_gene': 'LOC101927250', 'score': 550.77}, {'connected_gene': 'HEATR3', 'score': 22.86}, {'connected_gene': 'SNX20', 'score': 11.66}, {'connected_gene': 'CNEP1R1', 'score': 10.71}, {'connected_gene': 'BRD7', 'score': 9.48}, {'connected_gene': 'GC16M050159', 'score': 0.29}]
chr16	GH16I050102	50102190	50104539	0.54	[{'connected_gene': 'HEATR3', 'score': 59.74}, {'connected_gene': 'ENSG00000252526', 'score': 11.39}, {'connected_gene': 'PAPD5', 'score': 11.39}, {'connected_gene': 'CNEP1R1', 'score': 10.72}, {'connected_gene': 'GC16P050105', 'score': 0.77}, {'connected_gene': 'RNY4P3', 'score': 0.44}, {'connected_gene': 'LOC101927250', 'score': 0.25}]
chr16	GH16I050201	50201557	50205606	1.07	[{'connected_gene': 'HEATR3', 'score': 23.77}, {'connected_gene': 'ENSG00000252526', 'score': 11.91}, {'connected_gene': 'PAPD5', 'score': 11.91}, {'connected_gene': 'CNEP1R1', 'score': 11.32}, {'connected_gene': 'BRD7', 'score': 10.54}, {'connected_gene': 'GC16M050159', 'score': 0.37}, {'connected_gene': 'ADCY7', 'score': 0.26}]
chr16	GH16I050207	50207420	50211062	1.05	[{'connected_gene': 'HEATR3', 'score': 26.68}, {'connected_gene': 'ENSG00000252526', 'score': 12.08}, {'connected_gene': 'PAPD5', 'score': 12.08}, {'connected_gene': 'CNEP1R1', 'score': 11.27}, {'connected_gene': 'BRD7', 'score': 10.97}, {'connected_gene': 'GC16M050159', 'score': 0.34}, {'connected_gene': 'ADCY7', 'score': 0.28}]
chr16	GH16I050196	50194967	50197342	0.79	[{'connected_gene': 'HEATR3', 'score': 14.29}, {'connected_gene': 'GC16M050159', 'score': 0.39}, {'connected_gene': 'PAPD5', 'score': 0.26}, {'connected_gene': 'ADCY7', 'score': 0.25}]
chr16	GH16I050193	50193600	50194000	0.2	[{'connected_gene': 'HEATR3', 'score': 11.97}, {'connected_gene': 'GC16M050159', 'score': 0.44}, {'connected_gene': 'PAPD5', 'score': 0.26}, {'connected_gene': 'ADCY7', 'score': 0.23}]
chr16	GH16I050183	50183201	50184179	0.4	[{'connected_gene': 'HEATR3', 'score': 20.23}, {'connected_gene': 'GC16M050159', 'score': 0.77}, {'connected_gene': 'PAPD5', 'score': 0.29}, {'connected_gene': 'LOC101927250', 'score': 0.29}]
chr16	GH16I050156	50156650	50156799	0.43	[{'connected_gene': 'HEATR3', 'score': 11.02}, {'connected_gene': 'CNEP1R1', 'score': 10.27}, {'connected_gene': 'BRD7', 'score': 9.48}, {'connected_gene': 'PAPD5', 'score': 0.77}, {'connected_gene': 'LOC101927250', 'score': 0.77}, {'connected_gene': 'GC16M050159', 'score': 0.31}]
chr16	GH16I050160	50160241	50161555	0.65	[{'connected_gene': 'HEATR3', 'score': 11.02}, {'connected_gene': 'CNEP1R1', 'score': 10.27}, {'connected_gene': 'BRD7', 'score': 10.01}, {'connected_gene': 'PAPD5', 'score': 0.44}, {'connected_gene': 'LOC101927250', 'score': 0.44}, {'connected_gene': 'GC16M050159', 'score': 0.34}]
chr16	GH16I050280	50280460	50285305	1.48	[{'connected_gene': 'HEATR3', 'score': 4.55}, {'connected_gene': 'ADCY7', 'score': 4.15}, {'connected_gene': 'CYLD', 'score': 1.87}, {'connected_gene': 'PAPD5', 'score': 1.62}, {'connected_gene': 'NOD2', 'score': 1.43}, {'connected_gene': 'CNEP1R1', 'score': 1.38}, {'connected_gene': 'SNX20', 'score': 1.29}, {'connected_gene': 'GC16M050269', 'score': 0.77}, {'connected_gene': 'MIR6771', 'score': 0.44}, {'connected_gene': 'GC16P050277', 'score': 0.39}]
chr16	GH16I050309	50309379	50311154	0.83	[{'connected_gene': 'BRD7', 'score': 27.81}, {'connected_gene': 'PAPD5', 'score': 10.94}, {'connected_gene': 'MIR6771', 'score': 0.37}, {'connected_gene': 'GC16P050338', 'score': 0.31}, {'connected_gene': 'ADCY7', 'score': 0.2}]
chr16	GH16I050322	50322415	50325515	0.98	[{'connected_gene': 'BRD7', 'score': 41.5}, {'connected_gene': 'ENSG00000252526', 'score': 10.78}, {'connected_gene': 'PAPD5', 'score': 10.78}, {'connected_gene': 'ENSG00000205414', 'score': 9.16}, {'connected_gene': 'GC16P050338', 'score': 0.39}, {'connected_gene': 'MIR6771', 'score': 0.29}]
chr16	GH16I050312	50312106	50316861	1.03	[{'connected_gene': 'BRD7', 'score': 38.66}, {'connected_gene': 'ENSG00000252526', 'score': 10.79}, {'connected_gene': 'PAPD5', 'score': 10.79}, {'connected_gene': 'LOC101927250', 'score': 5.01}, {'connected_gene': 'MIR6771', 'score': 0.34}, {'connected_gene': 'GC16P050338', 'score': 0.34}, {'connected_gene': 'ADCY7', 'score': 0.2}]
chr16	GH16I050166	50166801	50168000	0.74	[{'connected_gene': 'BRD7', 'score': 10.02}, {'connected_gene': 'PAPD5', 'score': 0.39}, {'connected_gene': 'LOC101927250', 'score': 0.39}, {'connected_gene': 'GC16M050159', 'score': 0.37}]
chr16	GH16I050165	50165558	50166076	0.57	[{'connected_gene': 'BRD7', 'score': 10.02}, {'connected_gene': 'PAPD5', 'score': 0.39}, {'connected_gene': 'LOC101927250', 'score': 0.39}, {'connected_gene': 'GC16M050159', 'score': 0.34}]
chr16	GH16I050367	50367417	50370159	2.25	[{'connected_gene': 'BRD7', 'score': 588.44}, {'connected_gene': 'ENSG00000261393', 'score': 550.77}, {'connected_gene': 'ZNF423', 'score': 20.24}, {'connected_gene': 'PAPD5', 'score': 14.25}, {'connected_gene': 'SNX20', 'score': 11.68}]
chr16	GH16I050228	50228167	50229207	0.71	[{'connected_gene': 'CNEP1R1', 'score': 11.07}, {'connected_gene': 'ENSG00000252526', 'score': 11.01}, {'connected_gene': 'PAPD5', 'score': 11.01}, {'connected_gene': 'HEATR3', 'score': 10.82}, {'connected_gene': 'BRD7', 'score': 10.79}, {'connected_gene': 'ADCY7', 'score': 0.37}, {'connected_gene': 'GC16M050159', 'score': 0.26}]
chr16	GH16I050740	50740629	50748340	2.69	[{'connected_gene': 'CYLD', 'score': 561.57}, {'connected_gene': 'LOC102724907', 'score': 560.98}, {'connected_gene': 'NOD2', 'score': 38.31}, {'connected_gene': 'PAPD5', 'score': 19.54}, {'connected_gene': 'SNX20', 'score': 18.92}, {'connected_gene': 'BRD7', 'score': 10.1}, {'connected_gene': 'ADCY7', 'score': 2.35}, {'connected_gene': 'MIR3181', 'score': 0.77}, {'connected_gene': 'LOC105371251', 'score': 0.21}]
chr16	GH16I050759	50759335	50765442	0.59	[{'connected_gene': 'SNX20', 'score': 12.17}, {'connected_gene': 'PAPD5', 'score': 11.21}, {'connected_gene': 'BRD7', 'score': 10.17}, {'connected_gene': 'NOD2', 'score': 9.86}, {'connected_gene': 'LOC102724907', 'score': 9.52}, {'connected_gene': 'CYLD', 'score': 0.34}, {'connected_gene': 'LOC105371251', 'score': 0.26}]
chr16	GH16I050263	50263790	50269590	2.47	[{'connected_gene': 'ADCY7', 'score': 552.93}, {'connected_gene': 'PAPD5', 'score': 19.33}, {'connected_gene': 'CNEP1R1', 'score': 11.83}, {'connected_gene': 'BRD7', 'score': 10.84}, {'connected_gene': 'NKD1', 'score': 5.22}, {'connected_gene': 'CYLD', 'score': 3.41}, {'connected_gene': 'GC16P050277', 'score': 0.77}]
chr16	GH16I050612	50612401	50615149	0.92	[{'connected_gene': 'ENSG00000205414', 'score': 550.77}, {'connected_gene': 'PAPD5', 'score': 10.88}, {'connected_gene': 'NKD1', 'score': 10.69}, {'connected_gene': 'BRD7', 'score': 9.17}, {'connected_gene': 'PIR55860', 'score': 0.34}]
chr16	GH16I050214	50214050	50214199	0.69	[{'connected_gene': 'ENSG00000252526', 'score': 11.5}, {'connected_gene': 'PAPD5', 'score': 11.5}, {'connected_gene': 'HEATR3', 'score': 11.18}, {'connected_gene': 'BRD7', 'score': 11.02}, {'connected_gene': 'CNEP1R1', 'score': 10.78}, {'connected_gene': 'GC16M050159', 'score': 0.31}, {'connected_gene': 'ADCY7', 'score': 0.29}]
chr16	GH16I050206	50206601	50206800	0.2	[{'connected_gene': 'ENSG00000252526', 'score': 11.91}, {'connected_gene': 'PAPD5', 'score': 11.91}, {'connected_gene': 'HEATR3', 'score': 11.5}, {'connected_gene': 'CNEP1R1', 'score': 11.26}, {'connected_gene': 'BRD7', 'score': 10.54}, {'connected_gene': 'GC16M050159', 'score': 0.34}, {'connected_gene': 'ADCY7', 'score': 0.28}]
chr16	GH16I050266	50261045	50261175	0.31	[{'connected_gene': 'ENSG00000252526', 'score': 11.2}, {'connected_gene': 'PAPD5', 'score': 11.2}, {'connected_gene': 'BRD7', 'score': 10.85}, {'connected_gene': 'GC16P050277', 'score': 0.44}, {'connected_gene': 'ADCY7', 'score': 0.37}]
chr16	GH16I050267	50261365	50261492	0.38	[{'connected_gene': 'ENSG00000252526', 'score': 11.2}, {'connected_gene': 'PAPD5', 'score': 11.2}, {'connected_gene': 'BRD7', 'score': 10.85}, {'connected_gene': 'GC16P050277', 'score': 0.44}, {'connected_gene': 'ADCY7', 'score': 0.37}]
chr16	GH16I049619	49619233	49622227	1.51	[{'connected_gene': 'GC16P049621', 'score': 550.77}, {'connected_gene': 'PAPD5', 'score': 10.87}, {'connected_gene': 'ZNF423', 'score': 9.81}, {'connected_gene': 'GC16M049595', 'score': 0.44}]
chr16	GH16I049775	49775662	49776949	0.74	[{'connected_gene': 'GC16M049774', 'score': 550.77}, {'connected_gene': 'PAPD5', 'score': 9.69}, {'connected_gene': 'ENSG00000275155', 'score': 0.19}, {'connected_gene': 'ZNF423', 'score': 0.18}]
chr16	GH16I050194	50194209	50194313	0.38	[{'connected_gene': 'GC16M050159', 'score': 0.44}, {'connected_gene': 'PAPD5', 'score': 0.26}, {'connected_gene': 'ADCY7', 'score': 0.23}]
chr16	GH16I050195	50194570	50194720	0.54	[{'connected_gene': 'GC16M050159', 'score': 0.44}, {'connected_gene': 'PAPD5', 'score': 0.26}, {'connected_gene': 'ADCY7', 'score': 0.23}]
chr16	GH16I050169	50169601	50169800	0.43	[{'connected_gene': 'GC16M050159', 'score': 0.37}, {'connected_gene': 'PAPD5', 'score': 0.37}, {'connected_gene': 'LOC101927250', 'score': 0.37}]
chr16	GH16I050120	50120614	50122316	0.73	[{'connected_gene': 'GC16P050122', 'score': 550.77}, {'connected_gene': 'HEATR3', 'score': 44.65}, {'connected_gene': 'ENSG00000252526', 'score': 12.32}, {'connected_gene': 'PAPD5', 'score': 12.32}, {'connected_gene': 'BRD7', 'score': 10.74}, {'connected_gene': 'GC16P050105', 'score': 0.37}, {'connected_gene': 'LOC101927250', 'score': 0.29}]
chr16	GH16I050184	50184658	50186137	0.88	[{'connected_gene': 'GC16M050159', 'score': 550.77}, {'connected_gene': 'HEATR3', 'score': 22.6}, {'connected_gene': 'PAPD5', 'score': 0.29}, {'connected_gene': 'LOC101927250', 'score': 0.29}]
chr16	GH16I050333	50333444	50340173	1.27	[{'connected_gene': 'GC16P050338', 'score': 550.77}, {'connected_gene': 'BRD7', 'score': 44.43}, {'connected_gene': 'PAPD5', 'score': 2.99}, {'connected_gene': 'CYLD', 'score': 2.89}, {'connected_gene': 'ADCY7', 'score': 2.18}, {'connected_gene': 'MIR6771', 'score': 0.26}]
chr16	GH16I050198	50198930	50199019	0.46	[{'connected_gene': 'GC16M050159', 'score': 0.39}, {'connected_gene': 'ADCY7', 'score': 0.25}, {'connected_gene': 'PAPD5', 'score': 0.25}]