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
ENST00000392830	[[107371068, 107372549], [107378892, 107378993], [107380746, 107380927]]	[[107371334, 107372492]]
ENST00000240050	[[107371068, 107372549], [107378892, 107379003], [107380746, 107380944]]	[[107371334, 107372492]]
ENST00000552029	[[107371326, 107372549], [107378892, 107380904]]	[[107371334, 107372492]]
ENST00000548101	[[107371956, 107372549], [107380746, 107380868]]	[[107371956, 107372492]]
ENST00000550736	[[107372233, 107372549], [107374398, 107374491], [107378892, 107379064]]	[[107372233, 107372492]]
ENST00000550496	[[107372392, 107372545], [107378892, 107379003], [107380746, 107380900]]	[[107372392, 107372492]]
ENST00000547115	[[107379530, 107380087], [107380746, 107380938]]	None
NM_001033050	[[107371068, 107372549], [107378892, 107379003], [107380746, 107380944]]	[[107371334, 107372492]]
NM_025198	[[107371068, 107372549], [107378892, 107378993], [107380746, 107380944]]	[[107371334, 107372492]]

Promoter

Chrom	Start	End	Description
chr12	107380846	107380908	CAGE_peak_1_at_MTERFD3_5end
chr12	107380910	107380947	CAGE_peak_2_at_MTERFD3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I106919	106919883	106920012	0.56	[{'connected_gene': 'TMEM263', 'score': 12.45}, {'connected_gene': 'MTERF2', 'score': 5.44}, {'connected_gene': 'RPL30P12', 'score': 0.44}, {'connected_gene': 'GC12P106941', 'score': 0.34}]
chr12	GH12I106990	106989601	106989800	0.31	[{'connected_gene': 'TMEM263', 'score': 10.57}, {'connected_gene': 'MTERF2', 'score': 0.77}, {'connected_gene': 'GC12M106992', 'score': 0.77}]
chr12	GH12I106989	106989103	106989252	0.31	[{'connected_gene': 'TMEM263', 'score': 10.9}, {'connected_gene': 'MTERF2', 'score': 0.77}, {'connected_gene': 'GC12M106992', 'score': 0.77}]
chr12	GH12I107645	107645233	107647164	0.87	[{'connected_gene': 'MTERF2', 'score': 11.41}, {'connected_gene': 'SART3', 'score': 11.33}, {'connected_gene': 'ENSG00000260329', 'score': 9.83}, {'connected_gene': 'PWP1', 'score': 7.7}, {'connected_gene': 'ENSG00000222160', 'score': 0.77}, {'connected_gene': 'GC12M107595', 'score': 0.31}, {'connected_gene': 'BTBD11', 'score': 0.05}]
chr12	GH12I106978	106978238	106978815	0.74	[{'connected_gene': 'MTERF2', 'score': 7.72}, {'connected_gene': 'GC12P106984', 'score': 0.44}, {'connected_gene': 'GC12M106953', 'score': 0.34}, {'connected_gene': 'TMEM263', 'score': 0.31}]
chr12	GH12I106974	106974623	106974812	0.85	[{'connected_gene': 'MTERF2', 'score': 7.1}, {'connected_gene': 'GC12P106984', 'score': 0.39}, {'connected_gene': 'GC12M106953', 'score': 0.37}, {'connected_gene': 'TMEM263', 'score': 0.34}]
chr12	GH12I106958	106958401	106959200	0.49	[{'connected_gene': 'MTERF2', 'score': 12.51}, {'connected_gene': 'GC12M106953', 'score': 0.77}, {'connected_gene': 'TMEM263', 'score': 0.44}, {'connected_gene': 'GC12P106984', 'score': 0.31}]
chr12	GH12I107014	107014123	107014272	0.54	[{'connected_gene': 'MTERF2', 'score': 17.42}, {'connected_gene': 'CRY1', 'score': 9.29}, {'connected_gene': 'GC12M107010', 'score': 0.77}, {'connected_gene': 'GC12M106992', 'score': 0.34}]
chr12	GH12I106994	106994656	106995691	0.38	[{'connected_gene': 'MTERF2', 'score': 4.79}, {'connected_gene': 'GC12M106992', 'score': 0.77}, {'connected_gene': 'GC12M107010', 'score': 0.34}, {'connected_gene': 'CRY1', 'score': 0.15}]
chr12	GH12I107079	107079200	107079800	0.87	[{'connected_gene': 'MTERF2', 'score': 4.51}, {'connected_gene': 'ENSG00000257548', 'score': 0.39}, {'connected_gene': 'CRY1', 'score': 0.39}, {'connected_gene': 'PIR33339', 'score': 0.26}]
chr12	GH12I106984	106984883	106988173	2.04	[{'connected_gene': 'MTERF2', 'score': 558.1}, {'connected_gene': 'GC12P106984', 'score': 550.77}, {'connected_gene': 'PWP1', 'score': 14.38}, {'connected_gene': 'PRDM4', 'score': 13.67}, {'connected_gene': 'ENSG00000260329', 'score': 9.19}, {'connected_gene': 'CRY1', 'score': 4.31}]
chr12	GH12I106073	106073417	106085979	1.43	[{'connected_gene': 'MTERF2', 'score': 62.69}, {'connected_gene': 'ENSG00000260329', 'score': 21.19}, {'connected_gene': 'LOC100287944', 'score': 11.98}, {'connected_gene': 'RIC8B', 'score': 11.31}, {'connected_gene': 'ENSG00000257890', 'score': 9.15}, {'connected_gene': 'CKAP4', 'score': 4.88}, {'connected_gene': 'GC12M106085', 'score': 0.44}, {'connected_gene': 'NUAK1', 'score': 0.21}]
chr12	GH12I106587	106587143	106587518	0.67	[{'connected_gene': 'RFX4', 'score': 11.74}, {'connected_gene': 'RIC8B', 'score': 3.82}, {'connected_gene': 'MTERF2', 'score': 1.28}, {'connected_gene': 'PIR51055', 'score': 0.16}, {'connected_gene': 'LOC100287944', 'score': 0.09}]
chr12	GH12I106581	106581938	106582175	0.55	[{'connected_gene': 'RFX4', 'score': 573.4}, {'connected_gene': 'CRY1', 'score': 9.85}, {'connected_gene': 'RIC8B', 'score': 3.74}, {'connected_gene': 'MTERF2', 'score': 1.85}, {'connected_gene': 'GC12P106517', 'score': 0.21}, {'connected_gene': 'LOC100287944', 'score': 0.08}]
chr12	GH12I106345	106345800	106346092	1.05	[{'connected_gene': 'TCP11L2', 'score': 23.41}, {'connected_gene': 'MTERF2', 'score': 11.93}, {'connected_gene': 'CRY1', 'score': 11.63}, {'connected_gene': 'POLR3B', 'score': 0.39}, {'connected_gene': 'CKAP4', 'score': 0.26}]
chr12	GH12I106299	106299521	106305193	2.6	[{'connected_gene': 'TCP11L2', 'score': 559.71}, {'connected_gene': 'CKAP4', 'score': 550.77}, {'connected_gene': 'ENSG00000260329', 'score': 11.73}, {'connected_gene': 'POLR3B', 'score': 10.82}, {'connected_gene': 'MTERF2', 'score': 10.4}, {'connected_gene': 'TMEM263', 'score': 4.46}]
chr12	GH12I107090	107090822	107095124	2.25	[{'connected_gene': 'CRY1', 'score': 565.36}, {'connected_gene': 'ENSG00000257548', 'score': 550.77}, {'connected_gene': 'MTERF2', 'score': 13.2}, {'connected_gene': 'ENSG00000257398', 'score': 5.17}, {'connected_gene': 'PIR33339', 'score': 0.22}]
chr12	GH12I107042	107042501	107043695	0.38	[{'connected_gene': 'CRY1', 'score': 13.98}, {'connected_gene': 'MTERF2', 'score': 11.04}, {'connected_gene': 'PIR33339', 'score': 0.44}, {'connected_gene': 'ENSG00000257548', 'score': 0.23}]
chr12	GH12I106286	106286966	106290007	1.67	[{'connected_gene': 'CRY1', 'score': 12.74}, {'connected_gene': 'POLR3B', 'score': 10.25}, {'connected_gene': 'TCP11L2', 'score': 7.31}, {'connected_gene': 'MTERF2', 'score': 4.71}, {'connected_gene': 'GC12M106290', 'score': 0.77}, {'connected_gene': 'RNU7-94P', 'score': 0.44}, {'connected_gene': 'CKAP4', 'score': 0.37}]
chr12	GH12I107104	107104601	107104972	0.92	[{'connected_gene': 'PWP1', 'score': 11.93}, {'connected_gene': 'PRDM4', 'score': 10.08}, {'connected_gene': 'MTERF2', 'score': 9.82}, {'connected_gene': 'ENSG00000257548', 'score': 0.39}, {'connected_gene': 'CRY1', 'score': 0.39}, {'connected_gene': 'GC12M107118', 'score': 0.37}]
chr12	GH12I107057	107057263	107057412	0.79	[{'connected_gene': 'PWP1', 'score': 12.78}, {'connected_gene': 'LOC101929162', 'score': 10.4}, {'connected_gene': 'CRY1', 'score': 10.16}, {'connected_gene': 'MTERF2', 'score': 10.09}, {'connected_gene': 'PRDM4', 'score': 9.98}, {'connected_gene': 'PIR33339', 'score': 0.34}, {'connected_gene': 'ENSG00000257548', 'score': 0.28}]
chr12	GH12I106954	106954004	106958209	2.06	[{'connected_gene': 'ENSG00000260329', 'score': 576.47}, {'connected_gene': 'TMEM263', 'score': 563.83}, {'connected_gene': 'GC12M106953', 'score': 550.77}, {'connected_gene': 'MTERF2', 'score': 10.66}, {'connected_gene': 'GC12P106984', 'score': 0.31}]
chr12	GH12I107030	107030379	107031730	0.31	[{'connected_gene': 'GC12M107024', 'score': 550.77}, {'connected_gene': 'MTERF2', 'score': 11.14}, {'connected_gene': 'TMEM263', 'score': 10.7}, {'connected_gene': 'PIR33339', 'score': 0.44}, {'connected_gene': 'CRY1', 'score': 0.21}]
chr12	GH12I106975	106974960	106977012	1.12	[{'connected_gene': 'ENSG00000260329', 'score': 15.14}, {'connected_gene': 'MTERF2', 'score': 7.67}, {'connected_gene': 'GC12P106984', 'score': 0.44}, {'connected_gene': 'GC12M106953', 'score': 0.34}, {'connected_gene': 'TMEM263', 'score': 0.34}]
chr12	GH12I106983	106983744	106984122	0.45	[{'connected_gene': 'GC12P106984', 'score': 550.77}, {'connected_gene': 'MTERF2', 'score': 3.41}, {'connected_gene': 'RFX4', 'score': 1.67}, {'connected_gene': 'RIC8B', 'score': 1.48}, {'connected_gene': 'GC12M106953', 'score': 0.31}]
chr12	GH12I106941	106941578	106942070	0.79	[{'connected_gene': 'GC12P106941', 'score': 550.77}, {'connected_gene': 'MTERF2', 'score': 10.87}, {'connected_gene': 'POLR3B', 'score': 9.57}, {'connected_gene': 'RPL30P12', 'score': 0.29}]
chr12	GH12I107025	107025353	107030161	1.07	[{'connected_gene': 'GC12P107027', 'score': 550.77}, {'connected_gene': 'MTERF2', 'score': 15.18}, {'connected_gene': 'CRY1', 'score': 14.7}, {'connected_gene': 'GC12M107024', 'score': 0.77}]
chr12	GH12I106981	106981383	106982140	0.31	[{'connected_gene': 'ENSG00000260329', 'score': 12.83}, {'connected_gene': 'GC12P106984', 'score': 0.77}, {'connected_gene': 'MTERF2', 'score': 0.44}, {'connected_gene': 'GC12M106953', 'score': 0.31}]