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
ENST00000379491	[[10873455, 10875166], [10876123, 10876249], [10876677, 10876790], [10877372, 10877625], [10881936, 10882174]]	[[10874227, 10875166], [10876123, 10876249], [10876677, 10876790], [10877372, 10877625], [10881936, 10882026]]
NM_004752	[[10873455, 10875166], [10876123, 10876249], [10876677, 10876790], [10877372, 10877625], [10881936, 10882098]]	[[10874227, 10875166], [10876123, 10876249], [10876677, 10876790], [10877372, 10877625], [10881936, 10882026]]

Promoter

Chrom	Start	End	Description
chr6	10882270	10882274	CAGE_peak_1_at_GCM2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I011038	11038652	11040404	0.75	[{'connected_gene': 'GCM2', 'score': 10.34}, {'connected_gene': 'SYCP2L', 'score': 10.34}, {'connected_gene': 'ENSG00000235051', 'score': 10.34}, {'connected_gene': 'ELOVL2-AS1', 'score': 8.74}, {'connected_gene': 'ELOVL2', 'score': 0.77}, {'connected_gene': 'LOC100421248', 'score': 0.34}]
chr6	GH06I011033	11033908	11034097	0.38	[{'connected_gene': 'GCM2', 'score': 9.6}, {'connected_gene': 'SYCP2L', 'score': 9.6}, {'connected_gene': 'ENSG00000235051', 'score': 9.6}, {'connected_gene': 'ELOVL2-AS1', 'score': 0.44}, {'connected_gene': 'ELOVL2', 'score': 0.39}, {'connected_gene': 'LOC100421248', 'score': 0.37}]
chr6	GH06I011025	11025811	11026807	0.69	[{'connected_gene': 'GCM2', 'score': 10.46}, {'connected_gene': 'SYCP2L', 'score': 10.46}, {'connected_gene': 'ENSG00000235051', 'score': 10.45}, {'connected_gene': 'LOC100421248', 'score': 0.39}, {'connected_gene': 'ELOVL2-AS1', 'score': 0.37}, {'connected_gene': 'ELOVL2', 'score': 0.37}]
chr6	GH06I010837	10837081	10839386	2.01	[{'connected_gene': 'MAK', 'score': 550.77}, {'connected_gene': 'ENSG00000235051', 'score': 10.96}, {'connected_gene': 'GCM2', 'score': 10.95}, {'connected_gene': 'SYCP2L', 'score': 10.95}, {'connected_gene': 'GCNT2', 'score': 5.77}, {'connected_gene': 'RNA5SP203', 'score': 0.17}, {'connected_gene': 'TMEM14B', 'score': 0.16}, {'connected_gene': 'ENSG00000272162', 'score': 0.16}]
chr6	GH06I011241	11241601	11242037	1.29	[{'connected_gene': 'NEDD9', 'score': 10.38}, {'connected_gene': 'GCM2', 'score': 9.33}, {'connected_gene': 'ENSG00000235051', 'score': 9.32}, {'connected_gene': 'SYCP2L', 'score': 9.32}, {'connected_gene': 'GC06M011208', 'score': 0.29}, {'connected_gene': 'LOC105374925', 'score': 0.25}, {'connected_gene': 'ENSG00000247925', 'score': 0.2}]
chr6	GH06I010478	10478568	10478677	0.57	[{'connected_gene': 'C6orf52', 'score': 10.18}, {'connected_gene': 'PAK1IP1', 'score': 10.18}, {'connected_gene': 'SYCP2L', 'score': 9.98}, {'connected_gene': 'ENSG00000235051', 'score': 9.85}, {'connected_gene': 'GCM2', 'score': 9.85}, {'connected_gene': 'LINC02522', 'score': 0.77}, {'connected_gene': 'GC06M010472', 'score': 0.37}, {'connected_gene': 'MRPL48P1', 'score': 0.37}]
chr6	GH06I010824	10824871	10825162	0.53	[{'connected_gene': 'GCNT2', 'score': 10.58}, {'connected_gene': 'ENSG00000235051', 'score': 10.36}, {'connected_gene': 'GCM2', 'score': 10.35}, {'connected_gene': 'SYCP2L', 'score': 10.35}, {'connected_gene': 'PAK1IP1', 'score': 10.19}, {'connected_gene': 'C6orf52', 'score': 10.19}, {'connected_gene': 'ELOVL2', 'score': 1.55}, {'connected_gene': 'MAK', 'score': 0.39}, {'connected_gene': 'RNA5SP203', 'score': 0.19}, {'connected_gene': 'TMEM14B', 'score': 0.18}, {'connected_gene': 'ENSG00000272162', 'score': 0.18}]
chr6	GH06I010425	10425435	10432419	1.82	[{'connected_gene': 'GCNT2', 'score': 10.28}, {'connected_gene': 'TMEM14C', 'score': 9.75}, {'connected_gene': 'GCM2', 'score': 9.33}, {'connected_gene': 'SYCP2L', 'score': 9.33}, {'connected_gene': 'ENSG00000235051', 'score': 9.33}, {'connected_gene': 'ENSG00000228478', 'score': 0.77}, {'connected_gene': 'MIR5689HG', 'score': 0.44}, {'connected_gene': 'LINC00518', 'score': 0.44}]
chr6	GH06I010554	10554459	10558929	1.9	[{'connected_gene': 'GCNT2', 'score': 568.28}, {'connected_gene': 'GCNT2P', 'score': 12.04}, {'connected_gene': 'C6orf52', 'score': 11.39}, {'connected_gene': 'PAK1IP1', 'score': 11.39}, {'connected_gene': 'SYCP2L', 'score': 10.67}, {'connected_gene': 'GCM2', 'score': 8.91}, {'connected_gene': 'ENSG00000235051', 'score': 8.91}, {'connected_gene': 'GC06M010576', 'score': 0.37}, {'connected_gene': 'LOC101928146', 'score': 0.28}]
chr6	GH06I010886	10886134	10888065	2.06	[{'connected_gene': 'SYCP2L', 'score': 586.38}, {'connected_gene': 'GCM2', 'score': 550.77}, {'connected_gene': 'RNA5SP203', 'score': 12.12}, {'connected_gene': 'GC06M010903', 'score': 0.34}, {'connected_gene': 'ENSG00000272162', 'score': 0.12}]
chr6	GH06I011056	11055248	11055417	0.88	[{'connected_gene': 'SYCP2L', 'score': 9.83}, {'connected_gene': 'GCM2', 'score': 9.54}, {'connected_gene': 'ENSG00000235051', 'score': 9.53}, {'connected_gene': 'PIR31848', 'score': 0.44}, {'connected_gene': 'ELOVL2-AS1', 'score': 0.39}, {'connected_gene': 'GC06P011110', 'score': 0.34}, {'connected_gene': 'PIR60223', 'score': 0.34}]
chr6	GH06I011055	11055768	11055790	0.52	[{'connected_gene': 'SYCP2L', 'score': 9.83}, {'connected_gene': 'GCM2', 'score': 9.54}, {'connected_gene': 'ENSG00000235051', 'score': 9.53}, {'connected_gene': 'PIR31848', 'score': 0.44}, {'connected_gene': 'ELOVL2-AS1', 'score': 0.39}, {'connected_gene': 'GC06P011110', 'score': 0.34}, {'connected_gene': 'PIR60223', 'score': 0.34}]
chr6	GH06I010433	10433184	10435672	0.98	[{'connected_gene': 'MIR5689HG', 'score': 550.77}, {'connected_gene': 'LINC00518', 'score': 550.77}, {'connected_gene': 'GCNT2', 'score': 10.29}, {'connected_gene': 'ENSG00000235051', 'score': 9.33}, {'connected_gene': 'GCM2', 'score': 9.33}, {'connected_gene': 'SYCP2L', 'score': 9.33}]
chr6	GH06I010954	10954648	10954797	0.89	[{'connected_gene': 'LOC101928191', 'score': 550.77}, {'connected_gene': 'ELOVL2-AS1', 'score': 11.07}, {'connected_gene': 'ELOVL2', 'score': 11.07}, {'connected_gene': 'GCM2', 'score': 10.79}, {'connected_gene': 'SYCP2L', 'score': 10.79}, {'connected_gene': 'ENSG00000235051', 'score': 10.78}, {'connected_gene': 'LOC100421248', 'score': 0.21}]
chr6	GH06I010962	10962748	10962897	0.52	[{'connected_gene': 'ELOVL2-AS1', 'score': 10.52}, {'connected_gene': 'ELOVL2', 'score': 10.52}, {'connected_gene': 'GCM2', 'score': 10.47}, {'connected_gene': 'SYCP2L', 'score': 10.47}, {'connected_gene': 'ENSG00000235051', 'score': 10.47}, {'connected_gene': 'THAP12P5', 'score': 10.03}, {'connected_gene': 'RNU1-64P', 'score': 10.03}, {'connected_gene': 'LOC101928191', 'score': 0.44}, {'connected_gene': 'LOC100421248', 'score': 0.23}]
chr6	GH06I011066	11066381	11068178	0.9	[{'connected_gene': 'ELOVL2-AS1', 'score': 11.03}, {'connected_gene': 'ELOVL2', 'score': 11.03}, {'connected_gene': 'GCM2', 'score': 10.2}, {'connected_gene': 'SYCP2L', 'score': 10.2}, {'connected_gene': 'ENSG00000235051', 'score': 10.2}, {'connected_gene': 'GC06P011110', 'score': 0.39}, {'connected_gene': 'PIR60223', 'score': 0.39}, {'connected_gene': 'PIR31848', 'score': 0.37}]
chr6	GH06I011010	11010317	11013635	1.33	[{'connected_gene': 'ELOVL2-AS1', 'score': 20.08}, {'connected_gene': 'SYCP2L', 'score': 17.13}, {'connected_gene': 'ELOVL2', 'score': 12.05}, {'connected_gene': 'GCM2', 'score': 9.87}, {'connected_gene': 'ENSG00000235051', 'score': 9.86}, {'connected_gene': 'LOC100421248', 'score': 0.77}, {'connected_gene': 'LOC101928191', 'score': 0.22}]
chr6	GH06I011019	11019182	11019906	0.2	[{'connected_gene': 'ENSG00000235051', 'score': 9.05}, {'connected_gene': 'GCM2', 'score': 9.05}, {'connected_gene': 'SYCP2L', 'score': 9.05}, {'connected_gene': 'LOC100421248', 'score': 0.77}, {'connected_gene': 'ELOVL2-AS1', 'score': 0.34}, {'connected_gene': 'ELOVL2', 'score': 0.34}]
chr6	GH06I011042	11042356	11044657	1.98	[{'connected_gene': 'PIR47110', 'score': 550.77}, {'connected_gene': 'ELOVL2-AS1', 'score': 550.77}, {'connected_gene': 'ELOVL2', 'score': 550.77}, {'connected_gene': 'RNA5SP203', 'score': 24.01}, {'connected_gene': 'TFAP2A-AS1', 'score': 20.02}, {'connected_gene': 'SYCP2L', 'score': 16.08}, {'connected_gene': 'GCM2', 'score': 10.34}, {'connected_gene': 'ENSG00000235051', 'score': 10.33}, {'connected_gene': 'HIVEP1', 'score': 10.3}, {'connected_gene': 'ERVFRD-1', 'score': 9.89}, {'connected_gene': 'LOC100421248', 'score': 0.31}]