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
ENST00000314761	[[190306158, 190306304], [190313104, 190313234], [190315628, 190315694], [190316530, 190316621], [190320045, 190320170], [190322036, 190322107], [190323478, 190323598], [190324061, 190324150], [190327209, 190327368], [190328419, 190328479], [190328571, 190328687], [190329804, 190329980], [190331150, 190331308], [190332193, 190332374], [190333200, 190333295], [190334069, 190334165], [190334801, 190334971], [190335544, 190335604], [190338911, 190339058], [190339442, 190339534], [190339938, 190340291]]	[[190306218, 190306304], [190313104, 190313234], [190315628, 190315694], [190316530, 190316621], [190320045, 190320170], [190322036, 190322107], [190323478, 190323598], [190324061, 190324150], [190327209, 190327368], [190328419, 190328479], [190328571, 190328687], [190329804, 190329980], [190331150, 190331308], [190332193, 190332374], [190333200, 190333295], [190334069, 190334165], [190334801, 190334971], [190335544, 190335604], [190338911, 190339058], [190339442, 190339534], [190339938, 190340143]]
ENST00000436347	[[190306171, 190306304], [190313104, 190313234], [190313526, 190313560], [190315628, 190315694], [190316530, 190316621], [190320045, 190320170], [190322036, 190322107], [190323478, 190323598], [190324061, 190324150], [190327209, 190327368], [190328419, 190328479], [190328571, 190328687], [190329804, 190329980], [190331150, 190331308], [190332193, 190332374], [190333200, 190333295], [190334069, 190334165], [190334801, 190334971], [190335544, 190335604], [190338911, 190339058], [190339442, 190339534], [190339938, 190340272]]	[[190306218, 190306304], [190313104, 190313234], [190313526, 190313560], [190315628, 190315648]]
ENST00000472286	[[190306187, 190306304], [190313104, 190313234], [190315628, 190315694], [190316530, 190316621], [190320045, 190320347]]	None
ENST00000475596	[[190306193, 190306304], [190313104, 190313234], [190315628, 190315694], [190316530, 190316775]]	None
ENST00000427960	[[190306207, 190306304], [190313104, 190313234], [190313970, 190315694], [190316530, 190316621], [190320045, 190320170], [190322036, 190322107], [190323478, 190323598], [190324061, 190324150], [190327209, 190327368], [190328419, 190328479], [190328571, 190328687], [190329804, 190329980], [190331150, 190331308], [190332193, 190332374], [190333200, 190333295], [190334069, 190334165], [190334801, 190334971], [190335544, 190335604], [190338911, 190339058], [190339442, 190339534], [190339938, 190340278]]	[[190306218, 190306304], [190313104, 190313234], [190313970, 190314048]]
ENST00000498365	[[190327209, 190327368], [190328419, 190328937]]	None
NM_032168	[[190306158, 190306304], [190313104, 190313234], [190315628, 190315694], [190316530, 190316621], [190320045, 190320170], [190322036, 190322107], [190323478, 190323598], [190324061, 190324150], [190327209, 190327368], [190328419, 190328479], [190328571, 190328687], [190329804, 190329980], [190331150, 190331308], [190332193, 190332374], [190333200, 190333295], [190334069, 190334165], [190334801, 190334971], [190335544, 190335604], [190338911, 190339058], [190339442, 190339534], [190339938, 190340288]]	[[190306218, 190306304], [190313104, 190313234], [190315628, 190315694], [190316530, 190316621], [190320045, 190320170], [190322036, 190322107], [190323478, 190323598], [190324061, 190324150], [190327209, 190327368], [190328419, 190328479], [190328571, 190328687], [190329804, 190329980], [190331150, 190331308], [190332193, 190332374], [190333200, 190333295], [190334069, 190334165], [190334801, 190334971], [190335544, 190335604], [190338911, 190339058], [190339442, 190339534], [190339938, 190340143]]
NM_001303096	[[190306158, 190306304], [190313104, 190313234], [190313526, 190313560], [190315628, 190315694], [190316530, 190316621], [190320045, 190320170], [190322036, 190322107], [190323478, 190323598], [190324061, 190324150], [190327209, 190327368], [190328419, 190328479], [190328571, 190328687], [190329804, 190329980], [190331150, 190331308], [190332193, 190332374], [190333200, 190333295], [190334069, 190334165], [190334801, 190334971], [190335544, 190335604], [190338911, 190339058], [190339442, 190339534], [190339938, 190340288]]	[[190313536, 190313560], [190315628, 190315694], [190316530, 190316621], [190320045, 190320170], [190322036, 190322107], [190323478, 190323598], [190324061, 190324150], [190327209, 190327368], [190328419, 190328479], [190328571, 190328687], [190329804, 190329980], [190331150, 190331308], [190332193, 190332374], [190333200, 190333295], [190334069, 190334165], [190334801, 190334971], [190335544, 190335604], [190338911, 190339058], [190339442, 190339534], [190339938, 190340143]]

Promoter

Chrom	Start	End	Description
chr2	190306172	190306184	CAGE_peak_2_at_WDR75_5end
chr2	190306186	190306213	CAGE_peak_1_at_WDR75_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I189782	189782213	189785839	2.07	[{'connected_gene': 'ORMDL1', 'score': 606.31}, {'connected_gene': 'PMS1', 'score': 572.4}, {'connected_gene': 'ANKAR', 'score': 15.66}, {'connected_gene': 'HNRNPCP2', 'score': 13.53}, {'connected_gene': 'OSGEPL1-AS1', 'score': 12.33}, {'connected_gene': 'OSGEPL1', 'score': 11.29}, {'connected_gene': 'WDR75', 'score': 10.82}, {'connected_gene': 'NEMP2', 'score': 10.42}, {'connected_gene': 'ASNSD1', 'score': 5.76}, {'connected_gene': 'ENSG00000273240', 'score': 0.37}]
chr2	GH02I190179	190179662	190185644	2.05	[{'connected_gene': 'C2orf88', 'score': 550.06}, {'connected_gene': 'WDR75', 'score': 18.59}, {'connected_gene': 'PMS1', 'score': 16.14}, {'connected_gene': 'ANKAR', 'score': 14.93}, {'connected_gene': 'ORMDL1', 'score': 14.65}, {'connected_gene': 'NEMP2', 'score': 11.28}, {'connected_gene': 'LOC105373794', 'score': 0.26}, {'connected_gene': 'GC02M190201', 'score': 0.15}]
chr2	GH02I190214	190214400	190217678	0.85	[{'connected_gene': 'WDR75', 'score': 22.85}, {'connected_gene': 'C2orf88', 'score': 18.39}, {'connected_gene': 'HIBCH', 'score': 17.44}, {'connected_gene': 'ANKAR', 'score': 12.09}, {'connected_gene': 'PMS1', 'score': 10.9}, {'connected_gene': 'OSGEPL1', 'score': 10.6}, {'connected_gene': 'NAB1', 'score': 9.87}, {'connected_gene': 'GC02M190201', 'score': 0.2}, {'connected_gene': 'LOC105373794', 'score': 0.19}]
chr2	GH02I189372	189372670	189374162	0.63	[{'connected_gene': 'WDR75', 'score': 10.07}, {'connected_gene': 'KRT18P19', 'score': 0.21}, {'connected_gene': 'LOC101927252', 'score': 0.2}]
chr2	GH02I189346	189346772	189349063	1.15	[{'connected_gene': 'WDR75', 'score': 10.02}, {'connected_gene': 'KRT18P19', 'score': 0.28}, {'connected_gene': 'LOC101927252', 'score': 0.16}]
chr2	GH02I189363	189363600	189364232	0.94	[{'connected_gene': 'WDR75', 'score': 10.05}, {'connected_gene': 'KRT18P19', 'score': 0.23}, {'connected_gene': 'LOC101927252', 'score': 0.18}]
chr2	GH02I189375	189375168	189376272	0.31	[{'connected_gene': 'WDR75', 'score': 10.07}, {'connected_gene': 'KRT18P19', 'score': 0.21}, {'connected_gene': 'LOC101927252', 'score': 0.2}]
chr2	GH02I189369	189369213	189371704	1.04	[{'connected_gene': 'WDR75', 'score': 10.05}, {'connected_gene': 'COL5A2', 'score': 9.74}, {'connected_gene': 'KRT18P19', 'score': 0.22}, {'connected_gene': 'LOC101927252', 'score': 0.19}]
chr2	GH02I189350	189350222	189351453	0.86	[{'connected_gene': 'WDR75', 'score': 10.02}, {'connected_gene': 'COL5A2', 'score': 6.23}, {'connected_gene': 'KRT18P19', 'score': 0.28}, {'connected_gene': 'LOC101927252', 'score': 0.16}]
chr2	GH02I189328	189328075	189328960	0.71	[{'connected_gene': 'WDR75', 'score': 9.87}, {'connected_gene': 'COL5A2', 'score': 9.78}, {'connected_gene': 'KRT18P19', 'score': 0.37}, {'connected_gene': 'LOC101927252', 'score': 0.14}]
chr2	GH02I189335	189335806	189337291	0.2	[{'connected_gene': 'WDR75', 'score': 10.01}, {'connected_gene': 'COL5A2', 'score': 6.45}, {'connected_gene': 'KRT18P19', 'score': 0.34}, {'connected_gene': 'LOC101927252', 'score': 0.15}]
chr2	GH02I189248	189248658	189249611	0.2	[{'connected_gene': 'WDR75', 'score': 9.28}, {'connected_gene': 'COL5A2', 'score': 0.34}, {'connected_gene': 'KRT18P19', 'score': 0.21}]
chr2	GH02I189102	189102608	189106929	0.46	[{'connected_gene': 'WDR75', 'score': 9.42}, {'connected_gene': 'COL5A2', 'score': 7.35}, {'connected_gene': 'ENSG00000228073', 'score': 0.44}, {'connected_gene': 'MIR3129', 'score': 0.31}]
chr2	GH02I189406	189406309	189410615	1.26	[{'connected_gene': 'WDR75', 'score': 10.16}, {'connected_gene': 'COL5A2', 'score': 9.66}, {'connected_gene': 'LOC100420666', 'score': 9.49}, {'connected_gene': 'LOC101927252', 'score': 0.29}, {'connected_gene': 'KRT18P19', 'score': 0.15}]
chr2	GH02I189483	189483847	189485364	0.69	[{'connected_gene': 'WDR75', 'score': 12.64}, {'connected_gene': 'COL5A2', 'score': 6.73}, {'connected_gene': 'LOC100420666', 'score': 0.77}]
chr2	GH02I189221	189221195	189223099	0.85	[{'connected_gene': 'WDR75', 'score': 6.79}, {'connected_gene': 'COL5A2', 'score': 0.77}, {'connected_gene': 'GC02M189180', 'score': 0.26}, {'connected_gene': 'GC02M189179', 'score': 0.26}]
chr2	GH02I189191	189191889	189192080	0.24	[{'connected_gene': 'WDR75', 'score': 6.09}, {'connected_gene': 'GC02M189180', 'score': 0.39}, {'connected_gene': 'GC02M189179', 'score': 0.39}, {'connected_gene': 'COL5A2', 'score': 0.29}]
chr2	GH02I189440	189440256	189442601	2.06	[{'connected_gene': 'WDR75', 'score': 562.18}, {'connected_gene': 'LOC101927252', 'score': 550.77}, {'connected_gene': 'ORMDL1', 'score': 24.23}, {'connected_gene': 'HNRNPCP2', 'score': 13.45}, {'connected_gene': 'ANKAR', 'score': 11.27}, {'connected_gene': 'PMS1', 'score': 10.16}, {'connected_gene': 'COL5A2', 'score': 5.25}, {'connected_gene': 'LOC100420666', 'score': 4.83}]
chr2	GH02I189170	189170148	189172933	0.2	[{'connected_gene': 'WDR75', 'score': 5.8}, {'connected_gene': 'GC02M189180', 'score': 0.44}, {'connected_gene': 'GC02M189179', 'score': 0.44}, {'connected_gene': 'MIR3129', 'score': 0.28}, {'connected_gene': 'COL5A2', 'score': 0.23}]
chr2	GH02I189303	189303891	189304989	0.2	[{'connected_gene': 'WDR75', 'score': 9.98}, {'connected_gene': 'LOC100420666', 'score': 5.27}, {'connected_gene': 'KRT18P19', 'score': 0.44}, {'connected_gene': 'COL5A2', 'score': 0.18}]
chr2	GH02I189361	189361002	189361642	0.2	[{'connected_gene': 'WDR75', 'score': 10.04}, {'connected_gene': 'LOC100420666', 'score': 5.83}, {'connected_gene': 'KRT18P19', 'score': 0.25}, {'connected_gene': 'LOC101927252', 'score': 0.18}]
chr2	GH02I189202	189202915	189205608	0.91	[{'connected_gene': 'WDR75', 'score': 10.03}, {'connected_gene': 'LOC100420666', 'score': 7.13}, {'connected_gene': 'GC02M189180', 'score': 0.34}, {'connected_gene': 'GC02M189179', 'score': 0.34}, {'connected_gene': 'COL5A2', 'score': 0.34}]
chr2	GH02I189402	189402469	189403713	0.38	[{'connected_gene': 'WDR75', 'score': 10.14}, {'connected_gene': 'LOC100420666', 'score': 7.23}, {'connected_gene': 'LOC101927252', 'score': 0.28}, {'connected_gene': 'KRT18P19', 'score': 0.16}]
chr2	GH02I189378	189378664	189380523	1.03	[{'connected_gene': 'WDR75', 'score': 11.81}, {'connected_gene': 'LOC100420666', 'score': 5.86}, {'connected_gene': 'LOC101927252', 'score': 0.21}, {'connected_gene': 'KRT18P19', 'score': 0.2}]
chr2	GH02I189477	189477405	189478541	0.2	[{'connected_gene': 'WDR75', 'score': 15.17}, {'connected_gene': 'LOC100420666', 'score': 6.0}]
chr2	GH02I189465	189465635	189465724	0.71	[{'connected_gene': 'WDR75', 'score': 0.34}, {'connected_gene': 'LOC100420666', 'score': 0.34}]
chr2	GH02I189454	189454135	189454364	0.2	[{'connected_gene': 'WDR75', 'score': 17.29}, {'connected_gene': 'LOC100420666', 'score': 0.29}]
chr2	GH02I189460	189460034	189460186	0.22	[{'connected_gene': 'WDR75', 'score': 0.37}, {'connected_gene': 'LOC100420666', 'score': 0.31}]
chr2	GH02I189444	189444101	189444216	0.4	[{'connected_gene': 'WDR75', 'score': 0.77}, {'connected_gene': 'LOC100420666', 'score': 0.26}]
chr2	GH02I189426	189426975	189427124	0.31	[{'connected_gene': 'PMS1', 'score': 12.6}, {'connected_gene': 'OSGEPL1-AS1', 'score': 12.04}, {'connected_gene': 'WDR75', 'score': 11.16}, {'connected_gene': 'OSGEPL1', 'score': 11.01}, {'connected_gene': 'LOC101927252', 'score': 0.39}, {'connected_gene': 'KRT18P19', 'score': 0.14}]
chr2	GH02I190318	190318257	190321086	2.09	[{'connected_gene': 'HIBCH', 'score': 598.4}, {'connected_gene': 'NEMP2', 'score': 15.26}, {'connected_gene': 'ORMDL1', 'score': 13.18}, {'connected_gene': 'WDR75', 'score': 11.44}, {'connected_gene': 'ANKAR', 'score': 11.22}, {'connected_gene': 'PMS1', 'score': 10.14}, {'connected_gene': 'INPP1', 'score': 0.34}, {'connected_gene': 'GC02M190201', 'score': 0.28}]
chr2	GH02I190136	190136435	190136564	0.76	[{'connected_gene': 'ANKAR', 'score': 13.48}, {'connected_gene': 'WDR75', 'score': 11.94}, {'connected_gene': 'PMS1', 'score': 9.71}, {'connected_gene': 'LOC105373794', 'score': 0.77}, {'connected_gene': 'MSTN', 'score': 0.19}, {'connected_gene': 'C2orf88', 'score': 0.07}]
chr2	GH02I189252	189252933	189255324	0.92	[{'connected_gene': 'COL5A2', 'score': 9.95}, {'connected_gene': 'WDR75', 'score': 7.1}, {'connected_gene': 'KRT18P19', 'score': 0.22}]
chr2	GH02I189259	189259576	189262576	0.89	[{'connected_gene': 'COL5A2', 'score': 11.03}, {'connected_gene': 'WDR75', 'score': 9.29}, {'connected_gene': 'KRT18P19', 'score': 0.23}]
chr2	GH02I189075	189075438	189077949	0.31	[{'connected_gene': 'COL5A2', 'score': 16.78}, {'connected_gene': 'WDR75', 'score': 9.58}, {'connected_gene': 'ENSG00000228073', 'score': 0.37}, {'connected_gene': 'MIR3606', 'score': 0.18}]
chr2	GH02I189024	189024631	189026203	0.63	[{'connected_gene': 'COL5A2', 'score': 8.62}, {'connected_gene': 'WDR75', 'score': 6.14}, {'connected_gene': 'MIR3606', 'score': 0.31}, {'connected_gene': 'ENSG00000228073', 'score': 0.2}]
chr2	GH02I189020	189020366	189023632	0.63	[{'connected_gene': 'COL5A2', 'score': 8.61}, {'connected_gene': 'WDR75', 'score': 6.42}, {'connected_gene': 'MIR3606', 'score': 0.31}, {'connected_gene': 'ENSG00000228073', 'score': 0.19}]
chr2	GH02I189149	189149546	189154536	0.86	[{'connected_gene': 'COL5A2', 'score': 20.12}, {'connected_gene': 'WDR75', 'score': 6.09}, {'connected_gene': 'MIR3129', 'score': 0.37}, {'connected_gene': 'GC02M189180', 'score': 0.31}, {'connected_gene': 'GC02M189179', 'score': 0.31}]
chr2	GH02I189267	189267416	189269316	0.58	[{'connected_gene': 'COL5A2', 'score': 16.24}, {'connected_gene': 'WDR75', 'score': 6.77}, {'connected_gene': 'LOC100420666', 'score': 4.73}, {'connected_gene': 'KRT18P19', 'score': 0.26}]
chr2	GH02I189284	189284388	189289086	1.15	[{'connected_gene': 'COL5A2', 'score': 9.84}, {'connected_gene': 'WDR75', 'score': 8.33}, {'connected_gene': 'LOC100420666', 'score': 7.43}, {'connected_gene': 'KRT18P19', 'score': 0.31}]
chr2	GH02I189208	189208132	189212388	1.27	[{'connected_gene': 'COL5A2', 'score': 9.56}, {'connected_gene': 'WDR75', 'score': 8.45}, {'connected_gene': 'LOC100420666', 'score': 7.71}, {'connected_gene': 'DIRC1', 'score': 1.3}, {'connected_gene': 'GC02M189180', 'score': 0.29}, {'connected_gene': 'GC02M189179', 'score': 0.29}]
chr2	GH02I189145	189145604	189148489	0.58	[{'connected_gene': 'COL5A2', 'score': 20.14}, {'connected_gene': 'WDR75', 'score': 10.17}, {'connected_gene': 'LOC100420666', 'score': 9.96}, {'connected_gene': 'MIR3129', 'score': 0.39}, {'connected_gene': 'GC02M189180', 'score': 0.29}, {'connected_gene': 'GC02M189179', 'score': 0.29}]
chr2	GH02I189273	189273971	189275310	0.43	[{'connected_gene': 'COL5A2', 'score': 20.59}, {'connected_gene': 'LOC100420666', 'score': 9.57}, {'connected_gene': 'WDR75', 'score': 8.33}, {'connected_gene': 'KRT18P19', 'score': 0.28}]
chr2	GH02I189410	189410925	189413270	1.3	[{'connected_gene': 'COL5A2', 'score': 9.64}, {'connected_gene': 'LOC100420666', 'score': 9.49}, {'connected_gene': 'WDR75', 'score': 8.3}, {'connected_gene': 'LOC101927252', 'score': 0.31}, {'connected_gene': 'KRT18P19', 'score': 0.15}]
chr2	GH02I189142	189142688	189145307	0.91	[{'connected_gene': 'COL5A2', 'score': 10.99}, {'connected_gene': 'LOC100420666', 'score': 9.92}, {'connected_gene': 'WDR75', 'score': 5.9}, {'connected_gene': 'MIR3129', 'score': 0.39}, {'connected_gene': 'GC02M189180', 'score': 0.28}, {'connected_gene': 'GC02M189179', 'score': 0.28}]
chr2	GH02I189115	189115595	189117769	0.89	[{'connected_gene': 'COL5A2', 'score': 11.56}, {'connected_gene': 'LOC100420666', 'score': 8.01}, {'connected_gene': 'WDR75', 'score': 6.03}, {'connected_gene': 'MIR3129', 'score': 0.37}, {'connected_gene': 'ENSG00000228073', 'score': 0.34}]
chr2	GH02I189879	189879495	189879644	0.38	[{'connected_gene': 'LOC105373796', 'score': 550.77}, {'connected_gene': 'C2orf88', 'score': 550.77}, {'connected_gene': 'WDR75', 'score': 18.61}, {'connected_gene': 'PMS1', 'score': 16.24}, {'connected_gene': 'ANKAR', 'score': 14.98}, {'connected_gene': 'ORMDL1', 'score': 14.76}, {'connected_gene': 'NEMP2', 'score': 11.25}, {'connected_gene': 'LOC100287965', 'score': 0.28}]
chr2	GH02I189216	189216571	189218878	0.77	[{'connected_gene': 'LOC100420666', 'score': 11.17}, {'connected_gene': 'WDR75', 'score': 8.45}, {'connected_gene': 'COL5A2', 'score': 4.85}, {'connected_gene': 'GC02M189180', 'score': 0.28}, {'connected_gene': 'GC02M189179', 'score': 0.28}]
chr2	GH02I189486	189486655	189486720	0.8	[{'connected_gene': 'LOC100420666', 'score': 550.77}, {'connected_gene': 'WDR75', 'score': 0.25}]
chr2	GH02I189487	189486415	189486564	0.86	[{'connected_gene': 'LOC100420666', 'score': 550.77}, {'connected_gene': 'WDR75', 'score': 0.25}]
chr2	GH02I189488	189487664	189488273	0.58	[{'connected_gene': 'LOC100420666', 'score': 556.9}, {'connected_gene': 'WDR75', 'score': 7.56}]
chr2	GH02I189481	189481235	189481384	0.49	[{'connected_gene': 'LOC100420666', 'score': 0.44}, {'connected_gene': 'WDR75', 'score': 0.28}]
chr2	GH02I189162	189162687	189165857	0.89	[{'connected_gene': 'LOC100420666', 'score': 9.46}, {'connected_gene': 'COL5A2', 'score': 8.85}, {'connected_gene': 'WDR75', 'score': 5.76}, {'connected_gene': 'GC02M189180', 'score': 0.37}, {'connected_gene': 'GC02M189179', 'score': 0.37}, {'connected_gene': 'MIR3129', 'score': 0.29}]
chr2	GH02I189175	189175610	189181047	1.64	[{'connected_gene': 'GC02M189180', 'score': 550.77}, {'connected_gene': 'GC02M189179', 'score': 550.77}, {'connected_gene': 'WDR75', 'score': 10.18}, {'connected_gene': 'LOC100420666', 'score': 9.09}, {'connected_gene': 'COL5A2', 'score': 7.76}, {'connected_gene': 'COL3A1', 'score': 5.72}, {'connected_gene': 'DIRC1', 'score': 2.33}, {'connected_gene': 'MIR3129', 'score': 0.25}]
chr2	GH02I189090	189090817	189099120	1.39	[{'connected_gene': 'ENSG00000228073', 'score': 550.77}, {'connected_gene': 'COL5A2', 'score': 9.62}, {'connected_gene': 'WDR75', 'score': 9.59}, {'connected_gene': 'COL3A1', 'score': 3.07}, {'connected_gene': 'MIR3606', 'score': 0.15}]