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
ENST00000554963	[[71047973, 71048205], [71051533, 71051660], [71052472, 71052500], [71057982, 71058098], [71059596, 71059705], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067360]]	[[71048192, 71048205], [71051533, 71051660], [71052472, 71052500], [71057982, 71058098], [71059596, 71059705], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067354]]
ENST00000256379	[[71050305, 71051660], [71052472, 71052500], [71057982, 71058098], [71059596, 71059705], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067384]]	[[71051529, 71051660], [71052472, 71052500], [71057982, 71058098], [71059596, 71059705], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067354]]
ENST00000430055	[[71050802, 71051660], [71052472, 71052500], [71057982, 71058098], [71059596, 71059726], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067372]]	[[71051529, 71051660], [71052472, 71052500], [71057982, 71058098], [71059596, 71059726], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067354]]
ENST00000440435	[[71051241, 71051660], [71052472, 71052500], [71059596, 71059705], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067372]]	[[71051608, 71051660], [71052472, 71052500], [71059596, 71059705], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067354]]
ENST00000555296	[[71051381, 71051660], [71052472, 71052500], [71057982, 71058531]]	None
ENST00000553611	[[71057982, 71058098], [71059596, 71059705], [71060012, 71060095], [71063327, 71063459], [71064334, 71064494], [71067332, 71067383]]	None
ENST00000556044	[[71058004, 71058098], [71059596, 71059705], [71060012, 71060095], [71063327, 71063415], [71064334, 71064494], [71067332, 71067370]]	None
ENST00000556495	[[71059227, 71059705], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067381]]	None
ENST00000554870	[[71059294, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067372]]	None
ENST00000553523	[[71062928, 71063419], [71064334, 71064547]]	None
ENST00000556423	[[71062928, 71063419], [71064334, 71064494], [71067332, 71067370]]	None
NM_001284209	[[71049937, 71051660], [71052472, 71052500], [71057982, 71058098], [71059596, 71059726], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067407]]	[[71051529, 71051660], [71052472, 71052500], [71057982, 71058098], [71059596, 71059726], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067354]]
NM_005466	[[71049937, 71051660], [71052472, 71052500], [71057982, 71058098], [71059596, 71059705], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067407]]	[[71051529, 71051660], [71052472, 71052500], [71057982, 71058098], [71059596, 71059705], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067354]]
NM_001284211	[[71049937, 71050847], [71051533, 71051660], [71052472, 71052500], [71057982, 71058098], [71059596, 71059705], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067407]]	[[71050810, 71050847], [71051533, 71051660], [71052472, 71052500], [71057982, 71058098], [71059596, 71059705], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067354]]
NM_001284210	[[71049937, 71051660], [71052472, 71052500], [71059596, 71059705], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067407]]	[[71051608, 71051660], [71052472, 71052500], [71059596, 71059705], [71060012, 71060095], [71063327, 71063419], [71064334, 71064494], [71067332, 71067354]]

Promoter

Chrom	Start	End	Description
chr14	71067360	71067400	CAGE_peak_1_at_MED6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I069609	69609875	69622086	2.66	[{'connected_gene': 'SUSD6', 'score': 563.9}, {'connected_gene': 'ENSG00000273797', 'score': 550.77}, {'connected_gene': 'SRSF5', 'score': 19.77}, {'connected_gene': 'MED6', 'score': 11.62}, {'connected_gene': 'SMOC1', 'score': 4.34}, {'connected_gene': 'DCAF5', 'score': 4.1}]
chr14	GH14I069605	69605575	69607613	1.29	[{'connected_gene': 'DCAF5', 'score': 13.46}, {'connected_gene': 'DDX18P1', 'score': 12.61}, {'connected_gene': 'RPL7AP6', 'score': 10.96}, {'connected_gene': 'SRSF5', 'score': 10.89}, {'connected_gene': 'MED6', 'score': 10.52}, {'connected_gene': 'SUSD6', 'score': 0.77}, {'connected_gene': 'GC14P069585', 'score': 0.34}]
chr14	GH14I070652	70652511	70669970	1.58	[{'connected_gene': 'SRSF5', 'score': 18.23}, {'connected_gene': 'TTC9', 'score': 14.23}, {'connected_gene': 'MED6', 'score': 11.51}, {'connected_gene': 'SYNJ2BP', 'score': 4.64}, {'connected_gene': 'GC14P070671', 'score': 0.44}, {'connected_gene': 'GC14P070643', 'score': 0.37}, {'connected_gene': 'GC14M070669', 'score': 0.29}]
chr14	GH14I069765	69765869	69769320	2.27	[{'connected_gene': 'SRSF5', 'score': 561.41}, {'connected_gene': 'LOC100289511', 'score': 550.77}, {'connected_gene': 'PIR62290', 'score': 550.77}, {'connected_gene': 'MED6', 'score': 11.62}, {'connected_gene': 'ADAM20P1', 'score': 10.25}, {'connected_gene': 'SLC10A1', 'score': 4.92}]
chr14	GH14I069995	69995039	70001691	1.69	[{'connected_gene': 'SMOC1', 'score': 24.83}, {'connected_gene': 'MED6', 'score': 12.34}, {'connected_gene': 'ADAM20', 'score': 11.6}, {'connected_gene': 'SRSF5', 'score': 11.53}, {'connected_gene': 'DCAF5', 'score': 11.25}, {'connected_gene': 'ERH', 'score': 10.96}, {'connected_gene': 'SLC10A1', 'score': 10.34}, {'connected_gene': 'TTC9', 'score': 4.64}, {'connected_gene': 'GC14M069988', 'score': 0.44}, {'connected_gene': 'GC14M070040', 'score': 0.26}]
chr14	GH14I070390	70390826	70392834	0.2	[{'connected_gene': 'SYNJ2BP', 'score': 12.38}, {'connected_gene': 'RNU2-51P', 'score': 10.74}, {'connected_gene': 'COX16', 'score': 10.74}, {'connected_gene': 'SLC8A3', 'score': 5.25}, {'connected_gene': 'MED6', 'score': 4.32}, {'connected_gene': 'GC14P070399', 'score': 0.44}, {'connected_gene': 'GC14M070313', 'score': 0.37}, {'connected_gene': 'SYNJ2BP-COX16', 'score': 0.31}]
chr14	GH14I070471	70471284	70471533	0.2	[{'connected_gene': 'COX16', 'score': 18.07}, {'connected_gene': 'SYNJ2BP', 'score': 11.61}, {'connected_gene': 'RNU2-51P', 'score': 10.12}, {'connected_gene': 'SLC8A3', 'score': 4.92}, {'connected_gene': 'MED6', 'score': 4.82}, {'connected_gene': 'ADAM20P1', 'score': 0.39}, {'connected_gene': 'ADAM21', 'score': 0.37}, {'connected_gene': 'LOC105370555', 'score': 0.18}]
chr14	GH14I070358	70358400	70360400	2.14	[{'connected_gene': 'COX16', 'score': 570.72}, {'connected_gene': 'RNU2-51P', 'score': 550.77}, {'connected_gene': 'GC14P070361', 'score': 550.77}, {'connected_gene': 'SRSF5', 'score': 113.42}, {'connected_gene': 'MED6', 'score': 38.2}, {'connected_gene': 'SUSD6', 'score': 28.57}, {'connected_gene': 'RPL7AP6', 'score': 20.47}, {'connected_gene': 'ADAM20P1', 'score': 19.59}, {'connected_gene': 'PTTG4P', 'score': 11.18}, {'connected_gene': 'ERH', 'score': 10.02}, {'connected_gene': 'SLC8A3', 'score': 5.66}, {'connected_gene': 'PIR53064', 'score': 0.39}, {'connected_gene': 'GC14M070313', 'score': 0.37}, {'connected_gene': 'SYNJ2BP-COX16', 'score': 0.22}]
chr14	GH14I069661	69661966	69668887	1.18	[{'connected_gene': 'RPL7AP6', 'score': 14.98}, {'connected_gene': 'SRSF5', 'score': 14.14}, {'connected_gene': 'DDX18P1', 'score': 12.78}, {'connected_gene': 'SUSD6', 'score': 12.41}, {'connected_gene': 'MED6', 'score': 11.51}, {'connected_gene': 'DCAF5', 'score': 10.78}, {'connected_gene': 'KRT18P7', 'score': 10.12}, {'connected_gene': 'SMOC1', 'score': 5.14}, {'connected_gene': 'GC14P069678', 'score': 0.39}, {'connected_gene': 'GC14P069648', 'score': 0.37}]
chr14	GH14I070640	70640415	70644330	2.37	[{'connected_gene': 'TTC9', 'score': 616.95}, {'connected_gene': 'LOC101928075', 'score': 555.94}, {'connected_gene': 'GC14P070643', 'score': 550.77}, {'connected_gene': 'ENSG00000259115', 'score': 550.77}, {'connected_gene': 'MED6', 'score': 1.34}]
chr14	GH14I070881	70881601	70884399	1.45	[{'connected_gene': 'PCNX1', 'score': 48.7}, {'connected_gene': 'MED6', 'score': 2.09}, {'connected_gene': 'LOC100287335', 'score': 0.34}, {'connected_gene': 'ENSG00000274818', 'score': 0.34}]
chr14	GH14I070885	70885685	70889698	1.57	[{'connected_gene': 'PCNX1', 'score': 50.68}, {'connected_gene': 'MED6', 'score': 1.21}, {'connected_gene': 'ENSG00000274818', 'score': 0.37}, {'connected_gene': 'LOC100287335', 'score': 0.31}]
chr14	GH14I070697	70697610	70699078	1.42	[{'connected_gene': 'LINC01269', 'score': 550.77}, {'connected_gene': 'LOC101928075', 'score': 11.95}, {'connected_gene': 'TTC9', 'score': 11.95}, {'connected_gene': 'MED6', 'score': 1.75}, {'connected_gene': 'GC14M070669', 'score': 0.44}]
chr14	GH14I071319	71319473	71323414	1.73	[{'connected_gene': 'LOC102724015', 'score': 557.85}, {'connected_gene': 'SIPA1L1', 'score': 550.77}, {'connected_gene': 'MED6', 'score': 11.88}, {'connected_gene': 'PTTG4P', 'score': 11.36}]
chr14	GH14I070685	70685904	70686113	0.31	[{'connected_gene': 'LOC101928075', 'score': 11.64}, {'connected_gene': 'TTC9', 'score': 11.64}, {'connected_gene': 'MED6', 'score': 10.44}, {'connected_gene': 'GC14M070669', 'score': 0.44}, {'connected_gene': 'GC14P070671', 'score': 0.39}]
chr14	GH14I070555	70555501	70555853	0.22	[{'connected_gene': 'LOC100420563', 'score': 550.77}, {'connected_gene': 'COX16', 'score': 7.59}, {'connected_gene': 'MED6', 'score': 5.43}, {'connected_gene': 'ADAM20', 'score': 2.08}, {'connected_gene': 'LOC105370555', 'score': 0.44}]
chr14	GH14I071553	71553472	71557554	1.32	[{'connected_gene': 'MED6', 'score': 11.62}, {'connected_gene': 'SIPA1L1', 'score': 7.53}, {'connected_gene': 'LOC102724015', 'score': 6.52}, {'connected_gene': 'GC14M071550', 'score': 0.77}, {'connected_gene': 'GC14M071570', 'score': 0.28}]
chr14	GH14I070645	70645510	70648031	0.71	[{'connected_gene': 'MED6', 'score': 10.59}, {'connected_gene': 'TTC9', 'score': 7.7}, {'connected_gene': 'GC14P070643', 'score': 0.77}, {'connected_gene': 'GC14P070671', 'score': 0.34}]
chr14	GH14I070599	70599600	70601760	1.95	[{'connected_gene': 'MED6', 'score': 557.77}, {'connected_gene': 'ADAM21P1', 'score': 4.56}, {'connected_gene': 'GC14P070595', 'score': 0.44}, {'connected_gene': 'ENSG00000259115', 'score': 0.26}]
chr14	GH14I070704	70704776	70705280	0.2	[{'connected_gene': 'MED6', 'score': 4.23}, {'connected_gene': 'LINC01269', 'score': 0.44}, {'connected_gene': 'GC14P070715', 'score': 0.39}]
chr14	GH14I071377	71377326	71380077	0.46	[{'connected_gene': 'MED6', 'score': 12.45}, {'connected_gene': 'LOC102724015', 'score': 5.9}, {'connected_gene': 'GC14M071365', 'score': 0.39}, {'connected_gene': 'GC14P071399', 'score': 0.37}, {'connected_gene': 'SIPA1L1', 'score': 0.22}]
chr14	GH14I070721	70721126	70722287	0.56	[{'connected_gene': 'MED6', 'score': 11.22}, {'connected_gene': 'GC14M070764', 'score': 0.77}, {'connected_gene': 'PIR36063', 'score': 0.77}, {'connected_gene': 'GC14P070715', 'score': 0.44}]
chr14	GH14I070722	70722914	70727178	0.31	[{'connected_gene': 'GC14M070723', 'score': 550.77}, {'connected_gene': 'PIR55626', 'score': 550.77}, {'connected_gene': 'PIR61048', 'score': 550.77}, {'connected_gene': 'PIR52388', 'score': 550.77}, {'connected_gene': 'PIR36063', 'score': 550.77}, {'connected_gene': 'GC14M070764', 'score': 550.77}, {'connected_gene': 'GC14M070763', 'score': 550.77}, {'connected_gene': 'GC14M070765', 'score': 550.77}, {'connected_gene': 'MAP3K9', 'score': 11.35}, {'connected_gene': 'MED6', 'score': 10.92}, {'connected_gene': 'GC14P070715', 'score': 0.44}]
chr14	GH14I070821	70821600	70823682	1.38	[{'connected_gene': 'ENSG00000275630', 'score': 550.77}, {'connected_gene': 'MED6', 'score': 22.59}, {'connected_gene': 'PTTG4P', 'score': 11.36}, {'connected_gene': 'MAP3K9', 'score': 10.28}, {'connected_gene': 'RPL7AP6', 'score': 9.9}, {'connected_gene': 'LOC100287335', 'score': 0.28}]
chr14	GH14I070567	70567904	70568133	0.57	[{'connected_gene': 'PIR57654', 'score': 550.77}, {'connected_gene': 'MED6', 'score': 11.74}, {'connected_gene': 'RNU2-51P', 'score': 10.64}, {'connected_gene': 'COX16', 'score': 10.64}, {'connected_gene': 'GC14P070564', 'score': 0.77}]