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
ENST00000505197	[[53387262, 53387325], [53428914, 53429218], [53429547, 53429687], [53481683, 53481768]]	[[53387262, 53387316]]
ENST00000509541	[[53362138, 53363765], [53364842, 53364963], [53365044, 53365148], [53365229, 53365311], [53370189, 53370294], [53370600, 53370693], [53371710, 53371823], [53372277, 53372416], [53373392, 53373509], [53373973, 53375246]]	None
ENST00000229416	[[53362138, 53363765], [53364842, 53364963], [53365044, 53365148], [53365229, 53365311], [53370189, 53370294], [53370600, 53370693], [53371710, 53371823], [53372277, 53372416], [53373392, 53373509], [53373973, 53374048], [53379001, 53379135], [53379236, 53379295], [53380906, 53381020], [53385575, 53385758], [53387212, 53387325], [53409293, 53409927]]	[[53363553, 53363765], [53364842, 53364963], [53365044, 53365148], [53365229, 53365311], [53370189, 53370294], [53370600, 53370693], [53371710, 53371823], [53372277, 53372416], [53373392, 53373509], [53373973, 53374048], [53379001, 53379135], [53379236, 53379295], [53380906, 53381020], [53385575, 53385758], [53387212, 53387325], [53409293, 53409443]]
ENST00000515580	[[53362939, 53363765], [53364842, 53366148]]	None
ENST00000510837	[[53363569, 53363765], [53364842, 53364963], [53365044, 53365148], [53365229, 53365311], [53370189, 53370462]]	None
ENST00000504353	[[53364997, 53365148], [53365229, 53365311], [53370189, 53370294], [53370600, 53370693], [53371710, 53371876]]	None
ENST00000514373	[[53370058, 53370294], [53370600, 53370693], [53371710, 53371712]]	[[53370105, 53370294], [53370600, 53370693], [53371710, 53371712]]
ENST00000504525	[[53373394, 53373509], [53373973, 53374048], [53379001, 53379135], [53379236, 53379330], [53409293, 53409886]]	[[53379315, 53379330], [53409293, 53409443]]
ENST00000514004	[[53377786, 53379135], [53379236, 53379295], [53380906, 53381020], [53385575, 53385758], [53387212, 53387325], [53409293, 53409831]]	[[53378995, 53379135], [53379236, 53379295], [53380906, 53381020], [53385575, 53385758], [53387212, 53387325], [53409293, 53409443]]
ENST00000505294	[[53379004, 53379135], [53379236, 53379295], [53380906, 53381015], [53385575, 53385758], [53387212, 53387577]]	[[53380933, 53381015], [53385575, 53385758], [53387212, 53387316]]
ENST00000513939	[[53379084, 53379135], [53379236, 53379295], [53385575, 53385758], [53387212, 53387325], [53409293, 53409406]]	[[53379084, 53379135], [53379236, 53379295], [53385575, 53385758], [53387212, 53387325], [53409293, 53409406]]
ENST00000514933	[[53379132, 53379135], [53379236, 53379295], [53380906, 53381020], [53385575, 53385758], [53387212, 53387325], [53388052, 53388122]]	[[53379132, 53379135], [53379236, 53379295], [53380906, 53381020], [53385575, 53385758], [53387212, 53387316]]
NM_001498	[[53362138, 53363765], [53364842, 53364963], [53365044, 53365148], [53365229, 53365311], [53370189, 53370294], [53370600, 53370693], [53371710, 53371823], [53372277, 53372416], [53373392, 53373509], [53373973, 53374048], [53379001, 53379135], [53379236, 53379295], [53380906, 53381020], [53385575, 53385758], [53387212, 53387325], [53409293, 53409927]]	[[53363553, 53363765], [53364842, 53364963], [53365044, 53365148], [53365229, 53365311], [53370189, 53370294], [53370600, 53370693], [53371710, 53371823], [53372277, 53372416], [53373392, 53373509], [53373973, 53374048], [53379001, 53379135], [53379236, 53379295], [53380906, 53381020], [53385575, 53385758], [53387212, 53387325], [53409293, 53409443]]
NM_001197115	[[53362138, 53363765], [53364842, 53364963], [53365044, 53365148], [53365229, 53365311], [53370189, 53370294], [53370600, 53370693], [53371710, 53371823], [53372277, 53372416], [53373392, 53373509], [53373973, 53374048], [53379001, 53379135], [53379236, 53379295], [53385575, 53385758], [53387212, 53387325], [53409293, 53409927]]	[[53363553, 53363765], [53364842, 53364963], [53365044, 53365148], [53365229, 53365311], [53370189, 53370294], [53370600, 53370693], [53371710, 53371823], [53372277, 53372416], [53373392, 53373509], [53373973, 53374048], [53379001, 53379135], [53379236, 53379295], [53385575, 53385758], [53387212, 53387325], [53409293, 53409443]]

Promoter

Chrom	Start	End	Description
chr6	53372273	53372278	CAGE_peak_15_at_GCLC_5end
chr6	53375243	53375246	CAGE_peak_5_at_GCLC_5end
chr6	53409806	53409826	CAGE_peak_2_at_GCLC_5end
chr6	53409831	53409845	CAGE_peak_3_at_GCLC_5end
chr6	53409890	53409906	CAGE_peak_1_at_GCLC_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I053664	53664205	53665805	1.13	[{'connected_gene': 'KLHL31', 'score': 556.75}, {'connected_gene': 'GCLC', 'score': 5.41}, {'connected_gene': 'LINC01564', 'score': 0.28}]
chr6	GH06I053679	53679503	53679967	1.06	[{'connected_gene': 'KLHL31', 'score': 6.43}, {'connected_gene': 'GCLC', 'score': 5.5}, {'connected_gene': 'ENSG00000227885', 'score': 0.2}]
chr6	GH06I054255	54255159	54256662	0.63	[{'connected_gene': 'GCLC', 'score': 4.02}, {'connected_gene': 'PIR57485', 'score': 0.44}, {'connected_gene': 'GC06M054197', 'score': 0.23}, {'connected_gene': 'MLIP', 'score': 0.05}]
chr6	GH06I053650	53650549	53652800	1.45	[{'connected_gene': 'GCLC', 'score': 6.34}, {'connected_gene': 'KLHL31', 'score': 6.05}, {'connected_gene': 'GSTA4', 'score': 4.34}, {'connected_gene': 'LINC01564', 'score': 0.34}]
chr6	GH06I053658	53658359	53660498	0.46	[{'connected_gene': 'GCLC', 'score': 7.26}, {'connected_gene': 'KLHL31', 'score': 6.59}, {'connected_gene': 'LINC01564', 'score': 0.29}]
chr6	GH06I053646	53646988	53648295	0.99	[{'connected_gene': 'GCLC', 'score': 8.83}, {'connected_gene': 'LINC01564', 'score': 0.37}, {'connected_gene': 'KLHL31', 'score': 0.37}]
chr6	GH06I053511	53511979	53515332	0.93	[{'connected_gene': 'GCLC', 'score': 11.39}, {'connected_gene': 'LINC01564', 'score': 11.06}, {'connected_gene': 'LOC105375095', 'score': 4.49}, {'connected_gene': 'GC06M053483', 'score': 0.37}, {'connected_gene': 'GC06P053583', 'score': 0.2}]
chr6	GH06I053517	53517068	53517279	0.62	[{'connected_gene': 'GCLC', 'score': 11.62}, {'connected_gene': 'LINC01564', 'score': 11.06}, {'connected_gene': 'GC06M053483', 'score': 0.34}, {'connected_gene': 'GC06P053583', 'score': 0.2}]
chr6	GH06I053543	53543000	53546380	2.29	[{'connected_gene': 'GCLC', 'score': 550.19}, {'connected_gene': 'GC06P053583', 'score': 0.28}, {'connected_gene': 'GC06M053483', 'score': 0.25}]
chr6	GH06I053512	53511763	53511912	0.51	[{'connected_gene': 'GCLC', 'score': 6.73}, {'connected_gene': 'GC06M053483', 'score': 0.39}, {'connected_gene': 'GC06P053583', 'score': 0.19}]
chr6	GH06I053547	53547200	53549205	2.14	[{'connected_gene': 'GCLC', 'score': 4.28}, {'connected_gene': 'GC06P053583', 'score': 0.28}, {'connected_gene': 'GC06M053483', 'score': 0.23}]
chr6	GH06I053606	53605200	53605876	0.43	[{'connected_gene': 'LINC01564', 'score': 19.58}, {'connected_gene': 'LOC101927136', 'score': 0.39}, {'connected_gene': 'GCLC', 'score': 0.39}, {'connected_gene': 'GC06P053583', 'score': 0.34}]
chr6	GH06I053592	53592801	53593800	1.01	[{'connected_gene': 'LINC01564', 'score': 11.85}, {'connected_gene': 'GC06P053583', 'score': 0.44}, {'connected_gene': 'LOC101927136', 'score': 0.34}, {'connected_gene': 'GCLC', 'score': 0.34}]
chr6	GH06I053610	53610755	53612674	0.66	[{'connected_gene': 'LINC01564', 'score': 10.46}, {'connected_gene': 'LOC101927136', 'score': 0.44}, {'connected_gene': 'GCLC', 'score': 0.44}, {'connected_gene': 'GC06P053583', 'score': 0.31}]
chr6	GH06I053605	53605903	53606052	0.31	[{'connected_gene': 'LINC01564', 'score': 13.01}, {'connected_gene': 'LOC101927136', 'score': 0.39}, {'connected_gene': 'GCLC', 'score': 0.39}, {'connected_gene': 'GC06P053583', 'score': 0.34}]
chr6	GH06I053614	53614086	53617594	1.41	[{'connected_gene': 'LOC101927136', 'score': 550.77}, {'connected_gene': 'GCLC', 'score': 550.77}, {'connected_gene': 'LINC01564', 'score': 10.19}, {'connected_gene': 'GC06P053583', 'score': 0.29}]
chr6	GH06I053494	53494990	53498012	0.64	[{'connected_gene': 'GC06M053483', 'score': 550.77}, {'connected_gene': 'KLHL31', 'score': 10.77}, {'connected_gene': 'LOC105375095', 'score': 6.79}, {'connected_gene': 'GCLC', 'score': 6.12}, {'connected_gene': 'GC06P053483', 'score': 0.39}]
chr6	GH06I053510	53510202	53511708	0.2	[{'connected_gene': 'GC06M053483', 'score': 0.39}, {'connected_gene': 'GC06P053583', 'score': 0.19}, {'connected_gene': 'GCLC', 'score': 0.14}]
chr6	GH06I053541	53541769	53542861	0.63	[{'connected_gene': 'ENSG00000228614', 'score': 4.66}, {'connected_gene': 'GC06P053583', 'score': 0.26}, {'connected_gene': 'GC06M053483', 'score': 0.25}, {'connected_gene': 'GCLC', 'score': 0.19}]
chr6	GH06I053524	53524401	53524886	0.58	[{'connected_gene': 'GC06M053483', 'score': 0.31}, {'connected_gene': 'GC06P053583', 'score': 0.22}, {'connected_gene': 'GCLC', 'score': 0.16}]
chr6	GH06I053540	53540601	53540800	0.43	[{'connected_gene': 'GC06P053583', 'score': 0.26}, {'connected_gene': 'GC06M053483', 'score': 0.26}, {'connected_gene': 'GCLC', 'score': 0.18}]
chr6	GH06I053529	53529753	53532888	1.19	[{'connected_gene': 'GC06M053483', 'score': 0.29}, {'connected_gene': 'GC06P053583', 'score': 0.23}, {'connected_gene': 'GCLC', 'score': 0.17}]
chr6	GH06I053584	53584860	53585063	0.24	[{'connected_gene': 'GC06P053583', 'score': 550.77}, {'connected_gene': 'LINC01564', 'score': 11.21}, {'connected_gene': 'GCLC', 'score': 3.02}, {'connected_gene': 'LOC101927136', 'score': 0.29}]
chr6	GH06I053581	53581200	53581601	0.52	[{'connected_gene': 'GC06P053583', 'score': 0.77}, {'connected_gene': 'LOC101927136', 'score': 0.28}, {'connected_gene': 'GCLC', 'score': 0.28}, {'connected_gene': 'GC06M053483', 'score': 0.18}]