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
ENST00000439363	[[45316449, 45316675], [45340349, 45340498], [45341289, 45341367], [45345489, 45345680], [45347283, 45347411], [45363026, 45363116], [45392299, 45392327]]	[[45316671, 45316675], [45340349, 45340498], [45341289, 45341367], [45345489, 45345680], [45347283, 45347411], [45363026, 45363116], [45392299, 45392327]]
ENST00000360403	[[45316449, 45316675], [45323375, 45323479], [45340349, 45340498], [45341289, 45341367], [45345489, 45345680], [45347283, 45347411], [45363026, 45363116], [45392299, 45392411], [45407177, 45407337], [45443986, 45444132], [45446692, 45446849], [45452164, 45452282]]	[[45316622, 45316675], [45323375, 45323479], [45340349, 45340498], [45341289, 45341367], [45345489, 45345680], [45347283, 45347411], [45363026, 45363116], [45392299, 45392411], [45407177, 45407337], [45443986, 45444132], [45446692, 45446840]]
ENST00000372183	[[45340198, 45340498], [45341289, 45341367], [45345489, 45345680], [45347283, 45347411], [45363026, 45363116], [45392299, 45392411], [45407177, 45407337], [45443986, 45444132], [45446692, 45446849], [45452164, 45452259]]	[[45340312, 45340498], [45341289, 45341367], [45345489, 45345680], [45347283, 45347411], [45363026, 45363116], [45392299, 45392411], [45407177, 45407337], [45443986, 45444132], [45446692, 45446840]]
ENST00000486491	[[45328675, 45328833], [45340349, 45340498], [45341289, 45341294]]	None
ENST00000480675	[[45390629, 45390962], [45392299, 45392411], [45407177, 45407337], [45435649, 45435716], [45443986, 45444132], [45446692, 45446849], [45452164, 45452271]]	None
ENST00000477953	[[45392299, 45392411], [45402928, 45403020], [45407177, 45407337], [45435649, 45435716], [45443986, 45444132], [45446692, 45446849], [45452164, 45452258]]	None
ENST00000372182	[[45406300, 45406438], [45407177, 45407337], [45443986, 45444132], [45446692, 45446849], [45452164, 45452268]]	[[45406300, 45406438], [45407177, 45407337], [45443986, 45444132], [45446692, 45446840]]
ENST00000487532	[[45424232, 45424579], [45443986, 45444132], [45446692, 45446849], [45452164, 45452267]]	None
ENST00000497010	[[45435659, 45435716], [45438148, 45438246], [45443986, 45444132], [45446692, 45446849], [45452164, 45452267]]	None
NM_020365	[[45316193, 45316675], [45323375, 45323479], [45340349, 45340498], [45341289, 45341367], [45345489, 45345680], [45347283, 45347411], [45363026, 45363116], [45392299, 45392411], [45407177, 45407337], [45443986, 45444132], [45446692, 45446849], [45452164, 45452394]]	[[45316622, 45316675], [45323375, 45323479], [45340349, 45340498], [45341289, 45341367], [45345489, 45345680], [45347283, 45347411], [45363026, 45363116], [45392299, 45392411], [45407177, 45407337], [45443986, 45444132], [45446692, 45446840]]
NM_001261418	[[45316193, 45316675], [45340349, 45340498], [45341289, 45341367], [45345489, 45345680], [45347283, 45347411], [45363026, 45363116], [45392299, 45392411], [45407177, 45407337], [45443986, 45444132], [45446692, 45446849], [45452164, 45452394]]	[[45316671, 45316675], [45340349, 45340498], [45341289, 45341367], [45345489, 45345680], [45347283, 45347411], [45363026, 45363116], [45392299, 45392411], [45407177, 45407337], [45443986, 45444132], [45446692, 45446840]]
NM_001166588	[[45340198, 45340498], [45341289, 45341367], [45345489, 45345680], [45347283, 45347411], [45363026, 45363116], [45392299, 45392411], [45407177, 45407337], [45443986, 45444132], [45446692, 45446849], [45452164, 45452394]]	[[45340312, 45340498], [45341289, 45341367], [45345489, 45345680], [45347283, 45347411], [45363026, 45363116], [45392299, 45392411], [45407177, 45407337], [45443986, 45444132], [45446692, 45446840]]

Promoter

Chrom	Start	End	Description
chr1	45452208	45452219	CAGE_peak_2_at_EIF2B3_5end
chr1	45452240	45452287	CAGE_peak_1_at_EIF2B3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I044985	44985379	44987391	2.12	[{'connected_gene': 'EIF2B3', 'score': 550.77}, {'connected_gene': 'TOE1', 'score': 59.22}, {'connected_gene': 'GPBP1L1', 'score': 40.04}, {'connected_gene': 'RPS8', 'score': 30.21}, {'connected_gene': 'HECTD3', 'score': 28.71}, {'connected_gene': 'MUTYH', 'score': 27.63}, {'connected_gene': 'RPL7AP16', 'score': 26.89}, {'connected_gene': 'RPS15AP10', 'score': 21.5}, {'connected_gene': 'DMAP1', 'score': 13.31}, {'connected_gene': 'UROD', 'score': 12.98}, {'connected_gene': 'IPP', 'score': 12.84}, {'connected_gene': 'NASP', 'score': 12.25}, {'connected_gene': 'ZSWIM5', 'score': 10.96}, {'connected_gene': 'TMEM69', 'score': 10.88}, {'connected_gene': 'BTBD19', 'score': 5.2}, {'connected_gene': 'CCNB1IP1P1', 'score': 0.31}]
chr1	GH01I044862	44862915	44863308	0.68	[{'connected_gene': 'PTCH2', 'score': 11.83}, {'connected_gene': 'BEST4', 'score': 9.01}, {'connected_gene': 'BTBD19', 'score': 5.87}, {'connected_gene': 'ENSG00000226499', 'score': 0.37}, {'connected_gene': 'RNA5SP47', 'score': 0.2}, {'connected_gene': 'EIF2B3', 'score': 0.13}]
chr1	GH01I044894	44894229	44895422	0.46	[{'connected_gene': 'PTCH2', 'score': 11.41}, {'connected_gene': 'ENSG00000226499', 'score': 11.41}, {'connected_gene': 'PPIAP35', 'score': 10.28}, {'connected_gene': 'EIF2B3', 'score': 10.28}, {'connected_gene': 'BEST4', 'score': 8.79}, {'connected_gene': 'UROD', 'score': 7.88}, {'connected_gene': 'BTBD19', 'score': 5.79}, {'connected_gene': 'RNA5SP47', 'score': 0.28}]
chr1	GH01I044946	44946123	44948471	1.01	[{'connected_gene': 'UROD', 'score': 20.53}, {'connected_gene': 'EIF2B3', 'score': 11.45}, {'connected_gene': 'PPIAP35', 'score': 11.44}, {'connected_gene': 'BEST4', 'score': 8.95}, {'connected_gene': 'CCNB1IP1P1', 'score': 0.39}, {'connected_gene': 'RNA5SP47', 'score': 0.39}]
chr1	GH01I044909	44909367	44911404	0.2	[{'connected_gene': 'UROD', 'score': 11.87}, {'connected_gene': 'PPIAP35', 'score': 10.67}, {'connected_gene': 'EIF2B3', 'score': 10.67}, {'connected_gene': 'BEST4', 'score': 9.27}, {'connected_gene': 'BTBD19', 'score': 5.78}, {'connected_gene': 'RNA5SP47', 'score': 0.34}, {'connected_gene': 'ENSG00000226499', 'score': 0.2}]
chr1	GH01I044970	44970489	44970638	0.59	[{'connected_gene': 'CCNB1IP1P1', 'score': 0.39}, {'connected_gene': 'EIF2B3', 'score': 0.37}]
chr1	GH01I044831	44830001	44830200	0.43	[{'connected_gene': 'GPBP1L1', 'score': 15.96}, {'connected_gene': 'RPL7AP16', 'score': 14.59}, {'connected_gene': 'TOE1', 'score': 13.66}, {'connected_gene': 'TCTEX1D4', 'score': 12.89}, {'connected_gene': 'BTBD19', 'score': 12.89}, {'connected_gene': 'PLK3', 'score': 12.85}, {'connected_gene': 'BEST4', 'score': 11.68}, {'connected_gene': 'RPS15AP10', 'score': 11.4}, {'connected_gene': 'RNU5D-1', 'score': 11.1}, {'connected_gene': 'KIF2C', 'score': 11.09}, {'connected_gene': 'PPIAP35', 'score': 10.56}, {'connected_gene': 'EIF2B3', 'score': 10.56}, {'connected_gene': 'MUTYH', 'score': 9.84}, {'connected_gene': 'RNU5E-6P', 'score': 0.39}, {'connected_gene': 'PTCH2', 'score': 0.39}]
chr1	GH01I044967	44967982	44969250	0.72	[{'connected_gene': 'DMAP1', 'score': 10.0}, {'connected_gene': 'BEST4', 'score': 9.49}, {'connected_gene': 'CCNB1IP1P1', 'score': 0.39}, {'connected_gene': 'EIF2B3', 'score': 0.37}]
chr1	GH01I045039	45039109	45039258	0.93	[{'connected_gene': 'DMAP1', 'score': 10.33}, {'connected_gene': 'PPIAP35', 'score': 10.18}, {'connected_gene': 'EIF2B3', 'score': 10.18}, {'connected_gene': 'ZSWIM5', 'score': 6.72}, {'connected_gene': 'BEST4', 'score': 6.15}, {'connected_gene': 'GC01M045023', 'score': 0.39}, {'connected_gene': 'OSTCP5', 'score': 0.29}]
chr1	GH01I044858	44858075	44858092	0.22	[{'connected_gene': 'TCTEX1D4', 'score': 10.86}, {'connected_gene': 'BTBD19', 'score': 10.86}, {'connected_gene': 'PLK3', 'score': 10.85}, {'connected_gene': 'EIF2B3', 'score': 10.29}, {'connected_gene': 'PPIAP35', 'score': 10.28}, {'connected_gene': 'ENSG00000226499', 'score': 0.39}, {'connected_gene': 'RNA5SP47', 'score': 0.19}]
chr1	GH01I044834	44834201	44834400	0.56	[{'connected_gene': 'TCTEX1D4', 'score': 12.87}, {'connected_gene': 'BTBD19', 'score': 12.87}, {'connected_gene': 'PLK3', 'score': 12.85}, {'connected_gene': 'UROD', 'score': 11.89}, {'connected_gene': 'BEST4', 'score': 11.67}, {'connected_gene': 'RNU5D-1', 'score': 11.09}, {'connected_gene': 'KIF2C', 'score': 11.09}, {'connected_gene': 'PPIAP35', 'score': 10.56}, {'connected_gene': 'EIF2B3', 'score': 10.56}, {'connected_gene': 'PTCH2', 'score': 0.44}, {'connected_gene': 'RNU5E-6P', 'score': 0.39}]
chr1	GH01I044830	44830383	44831810	0.76	[{'connected_gene': 'TCTEX1D4', 'score': 12.89}, {'connected_gene': 'BTBD19', 'score': 12.89}, {'connected_gene': 'PLK3', 'score': 12.85}, {'connected_gene': 'RPS8', 'score': 12.81}, {'connected_gene': 'BEST4', 'score': 11.68}, {'connected_gene': 'RNU5D-1', 'score': 11.1}, {'connected_gene': 'KIF2C', 'score': 11.09}, {'connected_gene': 'PPIAP35', 'score': 10.56}, {'connected_gene': 'EIF2B3', 'score': 10.56}, {'connected_gene': 'UROD', 'score': 8.02}, {'connected_gene': 'RNU5E-6P', 'score': 0.39}, {'connected_gene': 'PTCH2', 'score': 0.39}]
chr1	GH01I044860	44860549	44861098	0.2	[{'connected_gene': 'TCTEX1D4', 'score': 10.86}, {'connected_gene': 'BTBD19', 'score': 10.86}, {'connected_gene': 'PLK3', 'score': 10.84}, {'connected_gene': 'PPIAP35', 'score': 10.29}, {'connected_gene': 'EIF2B3', 'score': 10.29}, {'connected_gene': 'ENSG00000226499', 'score': 0.37}, {'connected_gene': 'RNA5SP47', 'score': 0.19}]
chr1	GH01I044924	44924191	44927251	0.84	[{'connected_gene': 'BTBD19', 'score': 15.71}, {'connected_gene': 'UROD', 'score': 12.05}, {'connected_gene': 'PPIAP35', 'score': 10.99}, {'connected_gene': 'EIF2B3', 'score': 10.99}, {'connected_gene': 'BEST4', 'score': 10.9}, {'connected_gene': 'ENSG00000226499', 'score': 10.88}, {'connected_gene': 'PTCH2', 'score': 10.88}, {'connected_gene': 'PLK3', 'score': 10.07}, {'connected_gene': 'TCTEX1D4', 'score': 10.07}, {'connected_gene': 'RNA5SP47', 'score': 0.44}]
chr1	GH01I045018	45018749	45018858	0.72	[{'connected_gene': 'PPIAP35', 'score': 10.79}, {'connected_gene': 'EIF2B3', 'score': 10.79}, {'connected_gene': 'GC01P045019', 'score': 0.77}, {'connected_gene': 'GC01M045023', 'score': 0.44}, {'connected_gene': 'ZSWIM5', 'score': 0.06}]
chr1	GH01I044902	44902668	44903979	0.51	[{'connected_gene': 'ENSG00000226499', 'score': 11.97}, {'connected_gene': 'PTCH2', 'score': 11.96}, {'connected_gene': 'BEST4', 'score': 10.99}, {'connected_gene': 'UROD', 'score': 9.29}, {'connected_gene': 'RNA5SP47', 'score': 0.31}, {'connected_gene': 'EIF2B3', 'score': 0.18}]
chr1	GH01I044884	44884581	44885320	0.2	[{'connected_gene': 'ENSG00000226499', 'score': 0.26}, {'connected_gene': 'RNA5SP47', 'score': 0.25}, {'connected_gene': 'EIF2B3', 'score': 0.15}]
chr1	GH01I044881	44881000	44881949	0.31	[{'connected_gene': 'ENSG00000226499', 'score': 0.28}, {'connected_gene': 'RNA5SP47', 'score': 0.23}, {'connected_gene': 'EIF2B3', 'score': 0.14}]