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
ENST00000475313	[[5544498, 5544636], [5544772, 5544939], [5566984, 5567086], [5570170, 5570367], [5576411, 5576499], [5577966, 5578181], [5586349, 5586577], [5617148, 5617271], [5620204, 5620409], [5624263, 5624718], [5627475, 5627635], [5630285, 5630461], [5633519, 5633759], [5642240, 5642565], [5664833, 5664973], [5667241, 5667376], [5682986, 5683040], [5687096, 5687206], [5690883, 5691070], [5692991, 5693060], [5696061, 5696228], [5699319, 5699374], [5710555, 5711275]]	[[5544857, 5544939], [5566984, 5567086], [5570170, 5570367], [5576411, 5576499], [5577966, 5578181], [5586349, 5586577], [5617148, 5617271], [5620204, 5620409], [5624263, 5624718], [5627475, 5627635], [5630285, 5630461], [5633519, 5633759], [5642240, 5642565], [5664833, 5664973], [5667241, 5667376], [5682986, 5683040], [5687096, 5687206], [5690883, 5691070], [5692991, 5693060], [5696061, 5696228], [5699319, 5699362]]
ENST00000344938	[[5544857, 5544939], [5566984, 5567086], [5570170, 5570367], [5576411, 5576499], [5577966, 5578181], [5586349, 5586577], [5617148, 5617271], [5620204, 5620409], [5624263, 5624718], [5627475, 5627635], [5630285, 5630461], [5633519, 5633759], [5642240, 5642565], [5664833, 5664973], [5667241, 5667376], [5682986, 5683040], [5687096, 5687206], [5690883, 5691070], [5692991, 5693060], [5696061, 5696228], [5699319, 5699374], [5710012, 5710294]]	[[5544857, 5544939], [5566984, 5567086], [5570170, 5570367], [5576411, 5576499], [5577966, 5578181], [5586349, 5586577], [5617148, 5617271], [5620204, 5620409], [5624263, 5624718], [5627475, 5627635], [5630285, 5630461], [5633519, 5633759], [5642240, 5642565], [5664833, 5664973], [5667241, 5667376], [5682986, 5683040], [5687096, 5687206], [5690883, 5691070], [5692991, 5693060], [5696061, 5696228], [5699319, 5699374], [5710012, 5710240]]
ENST00000344408	[[5564165, 5564842], [5566984, 5567086], [5570170, 5570367], [5576411, 5576499], [5577966, 5578181], [5586349, 5586577], [5617148, 5617271], [5620204, 5620409], [5624263, 5624718], [5627475, 5627635], [5630285, 5630461], [5633519, 5633759], [5642240, 5642565], [5664833, 5664973], [5667241, 5667376], [5682986, 5683040], [5687096, 5687206], [5690883, 5691070], [5692991, 5693060], [5696061, 5696228], [5699319, 5699374], [5710012, 5710294]]	[[5564574, 5564842], [5566984, 5567086], [5570170, 5570367], [5576411, 5576499], [5577966, 5578181], [5586349, 5586577], [5617148, 5617271], [5620204, 5620409], [5624263, 5624718], [5627475, 5627635], [5630285, 5630461], [5633519, 5633759], [5642240, 5642565], [5664833, 5664973], [5667241, 5667376], [5682986, 5683040], [5687096, 5687206], [5690883, 5691070], [5692991, 5693060], [5696061, 5696228], [5699319, 5699374], [5710012, 5710240]]
ENST00000310917	[[5564165, 5564842], [5566984, 5567086], [5570170, 5570367], [5576411, 5576499], [5577966, 5578181], [5586349, 5586577], [5617148, 5617271], [5620204, 5620409], [5624263, 5624718], [5627475, 5627635], [5630285, 5630461], [5633519, 5633759], [5642240, 5642565], [5664833, 5664973], [5667241, 5667376], [5682986, 5683040], [5687096, 5687206], [5690883, 5691070], [5692991, 5693060], [5696061, 5696228], [5699319, 5699374], [5710555, 5711275]]	[[5564574, 5564842], [5566984, 5567086], [5570170, 5570367], [5576411, 5576499], [5577966, 5578181], [5586349, 5586577], [5617148, 5617271], [5620204, 5620409], [5624263, 5624718], [5627475, 5627635], [5630285, 5630461], [5633519, 5633759], [5642240, 5642565], [5664833, 5664973], [5667241, 5667376], [5682986, 5683040], [5687096, 5687206], [5690883, 5691070], [5692991, 5693060], [5696061, 5696228], [5699319, 5699362]]
ENST00000509670	[[5564515, 5564842], [5566984, 5567086], [5570170, 5570367], [5576411, 5576499], [5577966, 5578181], [5586349, 5586577], [5617148, 5617271], [5620204, 5620409], [5624263, 5624718], [5627475, 5627635], [5630285, 5630461], [5633519, 5633759], [5642248, 5642565], [5664833, 5664973], [5667241, 5667376], [5682986, 5683040], [5687096, 5687206], [5690883, 5691070], [5692991, 5693060], [5696061, 5696228], [5699319, 5699374], [5709773, 5709867], [5710555, 5710790]]	[[5633622, 5633759], [5642248, 5642565], [5664833, 5664973], [5667241, 5667376], [5682986, 5683040], [5687096, 5687206], [5690883, 5691070], [5692991, 5693060], [5696061, 5696228], [5699319, 5699362]]
NM_147127	[[5564145, 5564842], [5566984, 5567086], [5570170, 5570367], [5576411, 5576499], [5577966, 5578181], [5586349, 5586577], [5617148, 5617271], [5620204, 5620409], [5624263, 5624718], [5627475, 5627635], [5630285, 5630461], [5633519, 5633759], [5642240, 5642565], [5664833, 5664973], [5667241, 5667376], [5682986, 5683040], [5687096, 5687206], [5690883, 5691070], [5692991, 5693060], [5696061, 5696228], [5699319, 5699374], [5710012, 5710294]]	[[5564574, 5564842], [5566984, 5567086], [5570170, 5570367], [5576411, 5576499], [5577966, 5578181], [5586349, 5586577], [5617148, 5617271], [5620204, 5620409], [5624263, 5624718], [5627475, 5627635], [5630285, 5630461], [5633519, 5633759], [5642240, 5642565], [5664833, 5664973], [5667241, 5667376], [5682986, 5683040], [5687096, 5687206], [5690883, 5691070], [5692991, 5693060], [5696061, 5696228], [5699319, 5699374], [5710012, 5710240]]
NM_001166136	[[5564145, 5564842], [5566984, 5567086], [5570170, 5570367], [5576411, 5576499], [5577966, 5578181], [5586349, 5586577], [5617148, 5617271], [5620204, 5620409], [5624263, 5624718], [5627475, 5627635], [5630285, 5630461], [5633519, 5633759], [5642240, 5642565], [5664833, 5664973], [5667241, 5667376], [5682986, 5683040], [5687096, 5687206], [5690883, 5691070], [5692991, 5693060], [5696061, 5696228], [5699319, 5699374], [5710555, 5711275]]	[[5564574, 5564842], [5566984, 5567086], [5570170, 5570367], [5576411, 5576499], [5577966, 5578181], [5586349, 5586577], [5617148, 5617271], [5620204, 5620409], [5624263, 5624718], [5627475, 5627635], [5630285, 5630461], [5633519, 5633759], [5642240, 5642565], [5664833, 5664973], [5667241, 5667376], [5682986, 5683040], [5687096, 5687206], [5690883, 5691070], [5692991, 5693060], [5696061, 5696228], [5699319, 5699362]]

Promoter

Chrom	Start	End	Description
chr4	5710257	5710312	CAGE_peak_1_at_EVC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I006687	6687779	6697646	1.97	[{'connected_gene': 'S100P', 'score': 607.19}, {'connected_gene': 'LINC002481', 'score': 550.77}, {'connected_gene': 'ENSG00000279859', 'score': 550.77}, {'connected_gene': 'BLOC1S4', 'score': 36.24}, {'connected_gene': 'EVC2', 'score': 9.81}, {'connected_gene': 'LOC93622', 'score': 8.14}, {'connected_gene': 'LINC02482', 'score': 5.96}, {'connected_gene': 'GC04P006638', 'score': 0.23}, {'connected_gene': 'GC04P006634', 'score': 0.22}, {'connected_gene': 'GC04P006621', 'score': 0.19}]
chr4	GH04I005745	5745822	5761251	1.42	[{'connected_gene': 'EVC', 'score': 24.36}, {'connected_gene': 'CRMP1', 'score': 10.73}, {'connected_gene': 'EVC2', 'score': 5.14}, {'connected_gene': 'PIR43243', 'score': 0.44}, {'connected_gene': 'GC04P005776', 'score': 0.34}]
chr4	GH04I005707	5707481	5713482	2.04	[{'connected_gene': 'EVC', 'score': 565.04}, {'connected_gene': 'EVC2', 'score': 558.26}, {'connected_gene': 'PIR37444', 'score': 550.77}, {'connected_gene': 'RN7SKP275', 'score': 5.04}, {'connected_gene': 'GC04P005689', 'score': 0.34}]
chr4	GH04I005670	5670072	5670440	0.54	[{'connected_gene': 'JAKMIP1', 'score': 10.55}, {'connected_gene': 'EVC2', 'score': 10.06}, {'connected_gene': 'CRMP1', 'score': 2.08}, {'connected_gene': 'GC04M005673', 'score': 0.44}, {'connected_gene': 'GC04P005655', 'score': 0.39}]
chr4	GH04I005544	5544246	5544618	0.22	[{'connected_gene': 'CRMP1', 'score': 1.3}, {'connected_gene': 'GC04P005525', 'score': 0.37}, {'connected_gene': 'GC04P005589', 'score': 0.26}, {'connected_gene': 'EVC2', 'score': 0.1}]
chr4	GH04I005365	5365019	5367347	0.95	[{'connected_gene': 'EVC2', 'score': 21.42}, {'connected_gene': 'EVC', 'score': 11.64}, {'connected_gene': 'GC04M005426', 'score': 0.21}, {'connected_gene': 'ENSG00000252266', 'score': 0.21}, {'connected_gene': 'GC04P005298', 'score': 0.2}, {'connected_gene': 'STK32B', 'score': 0.06}]
chr4	GH04I005635	5635237	5640688	0.86	[{'connected_gene': 'EVC2', 'score': 11.04}, {'connected_gene': 'EVC', 'score': 11.04}, {'connected_gene': 'GC04P005643', 'score': 0.44}, {'connected_gene': 'GC04P005631', 'score': 0.44}]
chr4	GH04I005737	5737390	5738604	0.31	[{'connected_gene': 'EVC2', 'score': 11.63}, {'connected_gene': 'EVC', 'score': 11.63}, {'connected_gene': 'PIR43243', 'score': 0.44}]
chr4	GH04I005729	5729176	5732794	0.38	[{'connected_gene': 'EVC2', 'score': 12.29}, {'connected_gene': 'EVC', 'score': 9.63}, {'connected_gene': 'PIR43243', 'score': 0.37}]
chr4	GH04I005738	5738829	5739881	0.2	[{'connected_gene': 'EVC2', 'score': 11.63}, {'connected_gene': 'EVC', 'score': 11.63}, {'connected_gene': 'PIR43243', 'score': 0.44}]