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
ENST00000512784	[[76776956, 76777259], [76905683, 76906093], [76928887, 76929004], [76948358, 76948469], [76948940, 76949102], [76957789, 76958059], [76964556, 76964795], [76966205, 76966409], [76967037, 76967047]]	[[76777257, 76777259], [76905683, 76906093], [76928887, 76929004], [76948358, 76948469], [76948940, 76949102], [76957789, 76958059], [76964556, 76964795], [76966205, 76966409], [76967037, 76967047]]
ENST00000505752	[[76837486, 76837929], [76870738, 76870802], [76873885, 76873939], [76905683, 76906093], [76928887, 76929004], [76948358, 76948469], [76948940, 76949102], [76957789, 76958059], [76964556, 76964795], [76965068, 76965255], [76966205, 76966409], [76967037, 76967208]]	[[76905696, 76906093], [76928887, 76929004], [76948358, 76948469], [76948940, 76949102], [76957789, 76958059], [76964556, 76964795], [76965068, 76965255], [76966205, 76966225]]
ENST00000507951	[[76842699, 76842794], [76905683, 76906093], [76928887, 76929004], [76948358, 76948472]]	None
ENST00000509242	[[76870771, 76870802], [76873885, 76873939], [76905683, 76906093], [76928887, 76929004], [76948358, 76948469], [76948940, 76949102], [76957789, 76958059], [76964556, 76964795], [76966205, 76966409], [76967037, 76967583]]	[[76905696, 76906093], [76928887, 76929004], [76948358, 76948469], [76948940, 76949102], [76957789, 76958059], [76964556, 76964795], [76966205, 76966409], [76967037, 76967064]]
ENST00000556177	[[76873880, 76873939], [76905683, 76906093], [76928887, 76929004], [76948358, 76948469], [76948940, 76949102], [76957789, 76958059], [76964556, 76964854]]	[[76905696, 76906093], [76928887, 76929004], [76948358, 76948469], [76948940, 76949102], [76957789, 76958059], [76964556, 76964801]]
ENST00000261532	[[76873880, 76873939], [76905683, 76906093], [76928887, 76929004], [76948358, 76948469], [76948940, 76949102], [76957789, 76958059], [76964556, 76964795], [76965068, 76965255], [76966205, 76966409], [76967037, 76967072]]	[[76905696, 76906093], [76928887, 76929004], [76948358, 76948469], [76948940, 76949102], [76957789, 76958059], [76964556, 76964795], [76965068, 76965255], [76966205, 76966225]]
ENST00000380887	[[76873880, 76873939], [76905683, 76906093], [76928887, 76929004], [76948358, 76948469], [76948940, 76949102], [76957789, 76958059], [76964556, 76964795], [76966205, 76966409], [76967037, 76968178]]	[[76905696, 76906093], [76928887, 76929004], [76948358, 76948469], [76948940, 76949102], [76957789, 76958059], [76964556, 76964795], [76966205, 76966409], [76967037, 76967064]]
ENST00000509323	[[76905984, 76906093], [76928887, 76929004], [76929553, 76929770]]	None
NM_004452	[[76837689, 76837929], [76870738, 76870802], [76873885, 76873939], [76905683, 76906093], [76928887, 76929004], [76948358, 76948469], [76948940, 76949102], [76957789, 76958059], [76964556, 76964795], [76966205, 76966409], [76967037, 76968180]]	[[76905696, 76906093], [76928887, 76929004], [76948358, 76948469], [76948940, 76949102], [76957789, 76958059], [76964556, 76964795], [76966205, 76966409], [76967037, 76967064]]

Promoter

Chrom	Start	End	Description
chr14	76777051	76777061	CAGE_peak_2_at_ESRRB_5end
chr14	76777114	76777128	CAGE_peak_3_at_ESRRB_5end
chr14	76842457	76842494	CAGE_peak_1_at_ESRRB_5end
chr14	76842508	76842518	CAGE_peak_4_at_ESRRB_5end
chr14	76842616	76842623	CAGE_peak_8_at_ESRRB_5end
chr14	76842634	76842646	CAGE_peak_5_at_ESRRB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I076200	76200512	76205254	1.03	[{'connected_gene': 'GPATCH2L', 'score': 21.51}, {'connected_gene': 'ENSG00000258454', 'score': 14.46}, {'connected_gene': 'ESRRB', 'score': 13.02}, {'connected_gene': 'PIR37482', 'score': 0.77}, {'connected_gene': 'GC14P076200', 'score': 0.77}, {'connected_gene': 'GC14P076173', 'score': 0.31}]
chr14	GH14I076151	76151191	76153603	1.99	[{'connected_gene': 'GPATCH2L', 'score': 573.71}, {'connected_gene': 'ENSG00000283629', 'score': 550.77}, {'connected_gene': 'ESRRB', 'score': 9.21}, {'connected_gene': 'ENSG00000258454', 'score': 6.89}]
chr14	GH14I076352	76352281	76353399	1.1	[{'connected_gene': 'RPL22P2', 'score': 13.13}, {'connected_gene': 'GPATCH2L', 'score': 11.36}, {'connected_gene': 'ESRRB', 'score': 6.73}, {'connected_gene': 'GC14M076354', 'score': 0.77}, {'connected_gene': 'GC14P076344', 'score': 0.44}]
chr14	GH14I076313	76313783	76314127	0.78	[{'connected_gene': 'ESRRB', 'score': 0.77}, {'connected_gene': 'GC14P076305', 'score': 0.44}, {'connected_gene': 'GC14P076344', 'score': 0.29}]
chr14	GH14I076311	76310418	76310567	0.31	[{'connected_gene': 'ESRRB', 'score': 550.77}, {'connected_gene': 'ENSG00000258402', 'score': 550.77}, {'connected_gene': 'GC14P076305', 'score': 0.44}]
chr14	GH14I076314	76314144	76315249	0.46	[{'connected_gene': 'ESRRB', 'score': 25.36}, {'connected_gene': 'GC14P076305', 'score': 0.44}, {'connected_gene': 'GC14P076344', 'score': 0.31}]
chr14	GH14I076310	76310758	76311800	0.58	[{'connected_gene': 'ESRRB', 'score': 564.79}, {'connected_gene': 'ENSG00000258402', 'score': 550.77}, {'connected_gene': 'GC14P076305', 'score': 0.44}, {'connected_gene': 'GC14P076344', 'score': 0.29}]
chr14	GH14I076315	76313411	76313607	0.38	[{'connected_gene': 'ESRRB', 'score': 0.77}, {'connected_gene': 'GC14P076305', 'score': 0.44}, {'connected_gene': 'GC14P076344', 'score': 0.29}]
chr14	GH14I076312	76310198	76310347	0.31	[{'connected_gene': 'ESRRB', 'score': 550.77}, {'connected_gene': 'ENSG00000258402', 'score': 550.77}, {'connected_gene': 'GC14P076305', 'score': 0.44}]
chr14	GH14I075935	75935079	75935300	0.8	[{'connected_gene': 'IFT43', 'score': 10.92}, {'connected_gene': 'TGFB3', 'score': 1.51}, {'connected_gene': 'ESRRB', 'score': 1.13}, {'connected_gene': 'TGFB3-AS1', 'score': 0.28}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14	GH14I075980	75978496	75978637	0.75	[{'connected_gene': 'IFT43', 'score': 10.61}, {'connected_gene': 'TGFB3', 'score': 4.08}, {'connected_gene': 'ESRRB', 'score': 1.38}, {'connected_gene': 'TGFB3-AS1', 'score': 0.44}]
chr14	GH14I075928	75928601	75929378	0.82	[{'connected_gene': 'IFT43', 'score': 11.26}, {'connected_gene': 'ESRRB', 'score': 1.95}, {'connected_gene': 'TGFB3', 'score': 1.52}, {'connected_gene': 'TGFB3-AS1', 'score': 0.26}, {'connected_gene': 'TTLL5', 'score': 0.06}]
chr14	GH14I076375	76375978	76376167	0.68	[{'connected_gene': 'GC14M076354', 'score': 0.34}, {'connected_gene': 'GC14P076416', 'score': 0.28}, {'connected_gene': 'ESRRB', 'score': 0.2}]
chr14	GH14I076473	76473204	76474134	0.38	[{'connected_gene': 'PIR38840', 'score': 0.26}, {'connected_gene': 'GC14P076416', 'score': 0.22}, {'connected_gene': 'GC14M076582', 'score': 0.14}, {'connected_gene': 'ESRRB', 'score': 0.1}]
chr14	GH14I076329	76329616	76329935	0.59	[{'connected_gene': 'GC14P076344', 'score': 0.39}, {'connected_gene': 'ESRRB', 'score': 0.37}]
chr14	GH14I076413	76413758	76414568	0.2	[{'connected_gene': 'GC14P076416', 'score': 550.77}, {'connected_gene': 'GC14M076354', 'score': 0.22}, {'connected_gene': 'ESRRB', 'score': 0.15}]
chr14	GH14I076490	76490847	76491167	0.61	[{'connected_gene': 'PIR38840', 'score': 0.21}, {'connected_gene': 'GC14M076582', 'score': 0.16}, {'connected_gene': 'GC14M076478', 'score': 0.1}, {'connected_gene': 'ESRRB', 'score': 0.09}]
chr14	GH14I076330	76329958	76330107	0.43	[{'connected_gene': 'GC14P076344', 'score': 0.39}, {'connected_gene': 'ESRRB', 'score': 0.37}]
chr14	GH14I076376	76376983	76377013	0.67	[{'connected_gene': 'GC14M076354', 'score': 0.34}, {'connected_gene': 'GC14P076416', 'score': 0.28}, {'connected_gene': 'ESRRB', 'score': 0.2}]
chr14	GH14I076267	76267384	76268487	0.99	[{'connected_gene': 'PIR62178', 'score': 550.77}, {'connected_gene': 'ENSG00000258454', 'score': 6.23}, {'connected_gene': 'ESRRB', 'score': 4.81}, {'connected_gene': 'GC14M076264', 'score': 0.77}]
chr14	GH14I076348	76348978	76349167	0.52	[{'connected_gene': 'GC14P076344', 'score': 0.77}, {'connected_gene': 'GC14M076354', 'score': 0.44}, {'connected_gene': 'ESRRB', 'score': 0.28}]
chr14	GH14I076834	76834418	76834567	0.88	[{'connected_gene': 'ENSG00000259081', 'score': 4.93}, {'connected_gene': 'LRRC74A', 'score': 2.05}, {'connected_gene': 'ESRRB', 'score': 1.58}, {'connected_gene': 'ANGEL1', 'score': 0.44}, {'connected_gene': 'GC14P076854', 'score': 0.37}]