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
ENST00000533603	[[75273100, 75273364], [75274771, 75274815], [75277360, 75278016], [75279775, 75279874], [75279983, 75280216], [75282825, 75283828]]	[[75277394, 75278016], [75279775, 75279874], [75279983, 75280216], [75282825, 75283128]]
ENST00000358171	[[75273130, 75273364], [75277360, 75278016], [75279775, 75279874], [75279983, 75280216], [75282825, 75283828]]	[[75277394, 75278016], [75279775, 75279874], [75279983, 75280216], [75282825, 75283128]]
ENST00000526242	[[75273181, 75273364], [75277360, 75277436], [75277511, 75277726]]	[[75277394, 75277436], [75277511, 75277726]]
ENST00000526397	[[75273287, 75273386], [75277360, 75278016], [75279775, 75279874], [75279983, 75280011]]	[[75277394, 75278016], [75279775, 75279874], [75279983, 75280011]]
ENST00000529643	[[75273297, 75273423], [75277360, 75277894]]	[[75277394, 75277894]]
ENST00000525492	[[75273297, 75273364], [75277360, 75277511], [75277652, 75277963]]	[[75277394, 75277511], [75277652, 75277963]]
ENST00000530284	[[75273297, 75273364], [75274771, 75274815], [75277360, 75278016], [75279775, 75279874], [75279983, 75280475]]	[[75277394, 75278016], [75279775, 75279874], [75279983, 75280237]]
ENST00000532356	[[75273390, 75273423], [75274771, 75274815], [75277360, 75278016], [75279775, 75279874], [75279983, 75280149]]	[[75277394, 75278016], [75279775, 75279874], [75279983, 75280149]]
ENST00000524558	[[75273414, 75274815], [75277360, 75278016], [75279775, 75279874], [75279983, 75280216], [75282825, 75283827]]	[[75277394, 75278016], [75279775, 75279874], [75279983, 75280216], [75282825, 75283128]]
ENST00000528990	[[75273871, 75273929], [75277360, 75277889]]	[[75277394, 75277889]]
ENST00000533449	[[75273877, 75273929], [75274771, 75274815], [75277360, 75277846]]	[[75277394, 75277846]]
ENST00000525611	[[75273908, 75274061], [75274771, 75274815], [75277360, 75278016], [75279775, 75279874], [75279983, 75280005]]	[[75277394, 75278016], [75279775, 75279874], [75279983, 75280005]]
ENST00000528760	[[75274466, 75274551], [75274771, 75274815], [75277360, 75278004]]	[[75277394, 75278004]]
ENST00000525876	[[75278826, 75279874], [75279983, 75280216], [75282825, 75283827]]	[[75279804, 75279874], [75279983, 75280216], [75282825, 75283128]]
ENST00000526638	[[75282958, 75283444], [75283595, 75283828]]	[[75282958, 75283128]]
NM_001235	[[75273100, 75273364], [75277360, 75278016], [75279775, 75279874], [75279983, 75280216], [75282825, 75283849]]	[[75277394, 75278016], [75279775, 75279874], [75279983, 75280216], [75282825, 75283128]]
NM_001207014	[[75273100, 75273364], [75274771, 75274815], [75277360, 75278016], [75279775, 75279874], [75279983, 75280216], [75282825, 75283849]]	[[75277394, 75278016], [75279775, 75279874], [75279983, 75280216], [75282825, 75283128]]

Promoter

Chrom	Start	End	Description
chr11	75273154	75273234	CAGE_peak_2_at_SERPINH1_5end
chr11	75273246	75273340	CAGE_peak_1_at_SERPINH1_5end
chr11	75282852	75282863	CAGE_peak_14_at_SERPINH1_5end
chr11	75282866	75282888	CAGE_peak_7_at_SERPINH1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I075587	75587233	75590607	1.16	[{'connected_gene': 'SERPINH1', 'score': 12.45}, {'connected_gene': 'GDPD5', 'score': 10.53}, {'connected_gene': 'MOGAT2', 'score': 10.39}, {'connected_gene': 'LOC105369391', 'score': 9.5}, {'connected_gene': 'MAP6', 'score': 7.37}, {'connected_gene': 'ENSG00000255434', 'score': 0.44}]
chr11	GH11I075547	75547176	75548406	1.16	[{'connected_gene': 'SERPINH1', 'score': 0.39}, {'connected_gene': 'GDPD5', 'score': 0.34}]
chr11	GH11I075543	75543886	75544025	0.67	[{'connected_gene': 'SERPINH1', 'score': 0.37}, {'connected_gene': 'GDPD5', 'score': 0.37}]
chr11	GH11I075601	75601025	75601263	0.41	[{'connected_gene': 'SERPINH1', 'score': 11.3}, {'connected_gene': 'MOGAT2', 'score': 10.64}, {'connected_gene': 'MAP6', 'score': 4.41}, {'connected_gene': 'ENSG00000255434', 'score': 0.77}, {'connected_gene': 'LOC105369391', 'score': 0.37}, {'connected_gene': 'ENSG00000254630', 'score': 0.28}]
chr11	GH11I075603	75603096	75605111	0.66	[{'connected_gene': 'SERPINH1', 'score': 11.29}, {'connected_gene': 'MOGAT2', 'score': 10.65}, {'connected_gene': 'MAP6', 'score': 8.31}, {'connected_gene': 'ENSG00000255434', 'score': 0.44}, {'connected_gene': 'LOC105369391', 'score': 0.34}, {'connected_gene': 'ENSG00000254630', 'score': 0.29}]
chr11	GH11I075556	75556674	75567142	2.25	[{'connected_gene': 'SERPINH1', 'score': 556.14}, {'connected_gene': 'RPS3', 'score': 23.55}, {'connected_gene': 'RNF169', 'score': 21.42}, {'connected_gene': 'EMSY', 'score': 14.12}, {'connected_gene': 'LOC105369391', 'score': 11.7}, {'connected_gene': 'SNORD15B', 'score': 11.67}, {'connected_gene': 'GDPD5', 'score': 11.34}, {'connected_gene': 'MAP6', 'score': 11.09}, {'connected_gene': 'KLHL35', 'score': 10.69}, {'connected_gene': 'RN7SL239P', 'score': 10.24}, {'connected_gene': 'MOGAT2', 'score': 9.73}, {'connected_gene': 'RPS12P22', 'score': 4.39}]
chr11	GH11I075513	75513183	75514272	0.73	[{'connected_gene': 'SERPINH1', 'score': 11.33}, {'connected_gene': 'LOC105369391', 'score': 10.55}, {'connected_gene': 'GDPD5', 'score': 5.83}, {'connected_gene': 'LOC105369389', 'score': 0.77}]
chr11	GH11I075516	75516422	75520154	1.05	[{'connected_gene': 'SERPINH1', 'score': 11.35}, {'connected_gene': 'LOC105369391', 'score': 10.72}, {'connected_gene': 'GDPD5', 'score': 7.64}, {'connected_gene': 'LOC105369389', 'score': 0.44}]
chr11	GH11I075781	75781434	75784381	0.89	[{'connected_gene': 'DGAT2', 'score': 17.74}, {'connected_gene': 'MOGAT2', 'score': 10.68}, {'connected_gene': 'SERPINH1', 'score': 10.44}, {'connected_gene': 'ENSG00000254826', 'score': 0.44}, {'connected_gene': 'ENSG00000254814', 'score': 0.34}]
chr11	GH11I075533	75533844	75535489	1.37	[{'connected_gene': 'GDPD5', 'score': 0.44}, {'connected_gene': 'SERPINH1', 'score': 0.31}]
chr11	GH11I075535	75535770	75535906	0.38	[{'connected_gene': 'GDPD5', 'score': 0.44}, {'connected_gene': 'SERPINH1', 'score': 0.31}]
chr11	GH11I075539	75539246	75540793	0.57	[{'connected_gene': 'GDPD5', 'score': 0.39}, {'connected_gene': 'SERPINH1', 'score': 0.34}]
chr11	GH11I075540	75540986	75542192	0.57	[{'connected_gene': 'GDPD5', 'score': 6.78}, {'connected_gene': 'SERPINH1', 'score': 0.34}]
chr11	GH11I075536	75536195	75538611	1.58	[{'connected_gene': 'GDPD5', 'score': 5.32}, {'connected_gene': 'RPS3', 'score': 4.25}, {'connected_gene': 'UVRAG', 'score': 3.25}, {'connected_gene': 'SERPINH1', 'score': 0.34}]
chr11	GH11I075471	75471923	75472342	0.31	[{'connected_gene': 'GDPD5', 'score': 11.98}, {'connected_gene': 'KLHL35', 'score': 11.67}, {'connected_gene': 'SERPINH1', 'score': 10.76}, {'connected_gene': 'PIR48197', 'score': 0.31}, {'connected_gene': 'GC11M075443', 'score': 0.31}, {'connected_gene': 'ENSG00000254460', 'score': 0.28}]
chr11	GH11I075472	75471696	75471845	0.2	[{'connected_gene': 'GDPD5', 'score': 11.98}, {'connected_gene': 'KLHL35', 'score': 11.67}, {'connected_gene': 'SERPINH1', 'score': 10.76}, {'connected_gene': 'PIR48197', 'score': 0.31}, {'connected_gene': 'GC11M075443', 'score': 0.31}, {'connected_gene': 'ENSG00000254460', 'score': 0.28}]
chr11	GH11I075475	75474356	75474525	0.49	[{'connected_gene': 'GDPD5', 'score': 11.98}, {'connected_gene': 'KLHL35', 'score': 11.66}, {'connected_gene': 'SERPINH1', 'score': 10.76}, {'connected_gene': 'PIR48197', 'score': 0.29}, {'connected_gene': 'GC11M075443', 'score': 0.29}, {'connected_gene': 'ENSG00000254460', 'score': 0.29}]
chr11	GH11I075468	75468019	75470220	0.96	[{'connected_gene': 'GDPD5', 'score': 18.05}, {'connected_gene': 'KLHL35', 'score': 17.67}, {'connected_gene': 'SNORD15B', 'score': 11.33}, {'connected_gene': 'SERPINH1', 'score': 10.39}, {'connected_gene': 'LOC105369391', 'score': 10.29}, {'connected_gene': 'MOGAT2', 'score': 9.65}, {'connected_gene': 'PIR48197', 'score': 0.31}, {'connected_gene': 'GC11M075443', 'score': 0.31}, {'connected_gene': 'ENSG00000254460', 'score': 0.28}]
chr11	GH11I075465	75465847	75466786	0.63	[{'connected_gene': 'GDPD5', 'score': 17.59}, {'connected_gene': 'KLHL35', 'score': 11.59}, {'connected_gene': 'SNORD15B', 'score': 11.33}, {'connected_gene': 'SERPINH1', 'score': 10.38}, {'connected_gene': 'LOC105369391', 'score': 10.28}, {'connected_gene': 'MOGAT2', 'score': 9.65}, {'connected_gene': 'PIR48197', 'score': 0.34}, {'connected_gene': 'GC11M075443', 'score': 0.34}, {'connected_gene': 'ENSG00000254460', 'score': 0.26}]
chr11	GH11I075461	75461637	75464190	0.67	[{'connected_gene': 'GDPD5', 'score': 17.84}, {'connected_gene': 'KLHL35', 'score': 12.39}, {'connected_gene': 'SNORD15B', 'score': 11.4}, {'connected_gene': 'LOC105369391', 'score': 10.8}, {'connected_gene': 'SERPINH1', 'score': 10.38}, {'connected_gene': 'MIR326', 'score': 10.35}, {'connected_gene': 'MOGAT2', 'score': 9.65}, {'connected_gene': 'PIR48197', 'score': 0.34}, {'connected_gene': 'GC11M075443', 'score': 0.34}, {'connected_gene': 'ENSG00000254460', 'score': 0.25}]
chr11	GH11I075398	75398897	75403686	2.11	[{'connected_gene': 'RPS3', 'score': 588.89}, {'connected_gene': 'SNORD15A', 'score': 550.77}, {'connected_gene': 'GC11P075414', 'score': 550.77}, {'connected_gene': 'GC11P075411', 'score': 550.77}, {'connected_gene': 'GC11P075418', 'score': 550.77}, {'connected_gene': 'PIR55667', 'score': 550.77}, {'connected_gene': 'GC11P075412', 'score': 550.77}, {'connected_gene': 'POLD3', 'score': 49.45}, {'connected_gene': 'RNF169', 'score': 38.63}, {'connected_gene': 'KLHL35', 'score': 28.88}, {'connected_gene': 'SERPINH1', 'score': 14.74}, {'connected_gene': 'SNORD15B', 'score': 12.34}, {'connected_gene': 'UVRAG', 'score': 12.04}, {'connected_gene': 'GDPD5', 'score': 10.99}, {'connected_gene': 'RN7SL239P', 'score': 10.24}, {'connected_gene': 'GC11P075416', 'score': 0.77}]
chr11	GH11I075552	75552974	75556259	2.02	[{'connected_gene': 'EMSY', 'score': 10.77}, {'connected_gene': 'SERPINH1', 'score': 2.1}, {'connected_gene': 'GDPD5', 'score': 0.31}]
chr11	GH11I075474	75474601	75477284	1.1	[{'connected_gene': 'EMSY', 'score': 29.61}, {'connected_gene': 'KLHL35', 'score': 18.91}, {'connected_gene': 'GDPD5', 'score': 17.76}, {'connected_gene': 'LOC105369391', 'score': 11.32}, {'connected_gene': 'POLD3', 'score': 10.88}, {'connected_gene': 'SERPINH1', 'score': 10.76}, {'connected_gene': 'ENSG00000254837', 'score': 9.89}, {'connected_gene': 'PIR48197', 'score': 0.29}, {'connected_gene': 'ENSG00000254460', 'score': 0.29}, {'connected_gene': 'GC11M075443', 'score': 0.29}]
chr11	GH11I075767	75767895	75769835	2.25	[{'connected_gene': 'LOC283214', 'score': 550.77}, {'connected_gene': 'DGAT2', 'score': 550.44}, {'connected_gene': 'RPS3', 'score': 25.09}, {'connected_gene': 'EMSY', 'score': 23.4}, {'connected_gene': 'SERPINH1', 'score': 21.42}, {'connected_gene': 'SNORD15B', 'score': 12.39}, {'connected_gene': 'MOGAT2', 'score': 11.07}, {'connected_gene': 'RN7SL239P', 'score': 10.23}, {'connected_gene': 'ENSG00000255363', 'score': 10.03}, {'connected_gene': 'ENSG00000254826', 'score': 0.44}]
chr11	GH11I075532	75532201	75532799	1.03	[{'connected_gene': 'KLHL35', 'score': 11.38}, {'connected_gene': 'SERPINH1', 'score': 11.35}, {'connected_gene': 'LOC105369391', 'score': 10.62}, {'connected_gene': 'GDPD5', 'score': 0.44}]
chr11	GH11I075445	75445416	75445565	0.81	[{'connected_gene': 'SNORD15B', 'score': 23.54}, {'connected_gene': 'RPS3', 'score': 14.23}, {'connected_gene': 'EMSY', 'score': 14.11}, {'connected_gene': 'POLD3', 'score': 13.31}, {'connected_gene': 'RNF169', 'score': 12.98}, {'connected_gene': 'GDPD5', 'score': 12.36}, {'connected_gene': 'SERPINH1', 'score': 10.83}, {'connected_gene': 'RN7SL239P', 'score': 10.24}, {'connected_gene': 'PIR48197', 'score': 0.77}, {'connected_gene': 'GC11M075443', 'score': 0.77}, {'connected_gene': 'ENSG00000254460', 'score': 0.21}]
chr11	GH11I075593	75593004	75594011	0.72	[{'connected_gene': 'LOC105369391', 'score': 12.2}, {'connected_gene': 'SERPINH1', 'score': 11.76}, {'connected_gene': 'GDPD5', 'score': 10.25}, {'connected_gene': 'MAP6', 'score': 6.81}, {'connected_gene': 'ENSG00000255434', 'score': 0.77}]
chr11	GH11I075581	75581524	75585787	1.51	[{'connected_gene': 'LOC105369391', 'score': 568.25}, {'connected_gene': 'SERPINH1', 'score': 4.71}, {'connected_gene': 'ENSG00000255434', 'score': 0.39}]
chr11	GH11I075557	75556396	75556545	0.4	[{'connected_gene': 'LOC105369391', 'score': 11.67}, {'connected_gene': 'GDPD5', 'score': 11.36}, {'connected_gene': 'MAP6', 'score': 11.08}, {'connected_gene': 'KLHL35', 'score': 10.69}, {'connected_gene': 'MOGAT2', 'score': 9.33}, {'connected_gene': 'SERPINH1', 'score': 0.44}]
chr11	GH11I075689	75689366	75690965	1.14	[{'connected_gene': 'LOC105369391', 'score': 17.32}, {'connected_gene': 'MOGAT2', 'score': 11.46}, {'connected_gene': 'DGAT2', 'score': 10.9}, {'connected_gene': 'SERPINH1', 'score': 10.38}, {'connected_gene': 'MAP6', 'score': 7.17}, {'connected_gene': 'UVRAG', 'score': 1.51}]
chr11	GH11I075597	75597756	75597885	0.62	[{'connected_gene': 'ENSG00000255434', 'score': 550.77}, {'connected_gene': 'SERPINH1', 'score': 11.56}, {'connected_gene': 'DGAT2', 'score': 9.74}, {'connected_gene': 'GDPD5', 'score': 9.68}, {'connected_gene': 'LOC105369391', 'score': 0.39}, {'connected_gene': 'ENSG00000254630', 'score': 0.26}, {'connected_gene': 'MAP6', 'score': 0.19}]
chr11	GH11I075569	75569613	75573108	0.57	[{'connected_gene': 'GC11P075572', 'score': 550.77}, {'connected_gene': 'GC11M075571', 'score': 550.77}, {'connected_gene': 'GC11P075573', 'score': 550.77}, {'connected_gene': 'SERPINH1', 'score': 5.6}, {'connected_gene': 'RPS12P22', 'score': 4.34}]
chr11	GH11I075505	75505120	75512641	1.16	[{'connected_gene': 'ENSG00000254460', 'score': 550.77}, {'connected_gene': 'LOC105369389', 'score': 550.77}, {'connected_gene': 'SERPINH1', 'score': 11.32}, {'connected_gene': 'LOC105369391', 'score': 10.71}, {'connected_gene': 'GDPD5', 'score': 8.78}]