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
ENST00000354666	[[10980991, 10984139], [10989935, 10990070], [10990550, 10990675], [10995239, 10995411], [11000319, 11000397], [11005604, 11005792], [11010978, 11011042], [11044460, 11044547]]	[[10984013, 10984139], [10989935, 10990070], [10990550, 10990675], [10995239, 10995411], [11000319, 11000397], [11005604, 11005792], [11010978, 11011042], [11044460, 11044463]]
NM_017770	[[10980991, 10984139], [10989935, 10990070], [10990550, 10990675], [10995239, 10995411], [11000319, 11000397], [11005604, 11005792], [11010978, 11011042], [11044460, 11044624]]	[[10984013, 10984139], [10989935, 10990070], [10990550, 10990675], [10995239, 10995411], [11000319, 11000397], [11005604, 11005792], [11010978, 11011042], [11044460, 11044463]]

Promoter

Chrom	Start	End	Description
chr6	11044509	11044582	CAGE_peak_1_at_ELOVL2_5end
chr6	11044592	11044607	CAGE_peak_3_at_ELOVL2_5end
chr6	11044656	11044679	CAGE_peak_2_at_ELOVL2_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	GH06I010771	10771194	10771763	0.97	[{'connected_gene': 'MAK', 'score': 2.31}, {'connected_gene': 'ELOVL2', 'score': 1.96}, {'connected_gene': 'RNA5SP203', 'score': 0.37}, {'connected_gene': 'TMEM14B', 'score': 0.34}, {'connected_gene': 'ENSG00000272162', 'score': 0.34}]
chr6	GH06I011396	11396838	11399940	1.35	[{'connected_gene': 'ELOVL2', 'score': 3.46}, {'connected_gene': 'LOC105374927', 'score': 0.77}, {'connected_gene': 'ENSG00000233656', 'score': 0.37}]
chr6	GH06I011089	11089035	11089300	0.2	[{'connected_gene': 'ELOVL2', 'score': 10.22}, {'connected_gene': 'ELOVL2-AS1', 'score': 10.2}, {'connected_gene': 'SMIM13', 'score': 0.77}, {'connected_gene': 'PIR40503', 'score': 0.44}]
chr6	GH06I011161	11161448	11161597	0.52	[{'connected_gene': 'NEDD9', 'score': 9.59}, {'connected_gene': 'ELOVL2-AS1', 'score': 9.58}, {'connected_gene': 'ELOVL2', 'score': 9.58}, {'connected_gene': 'ENSG00000271245', 'score': 0.44}, {'connected_gene': 'ENSG00000247925', 'score': 0.39}]
chr6	GH06I011228	11228374	11234976	2.48	[{'connected_gene': 'NEDD9', 'score': 569.38}, {'connected_gene': 'ENSG00000247925', 'score': 11.27}, {'connected_gene': 'TMEM170B', 'score': 6.42}, {'connected_gene': 'MAK', 'score': 1.84}, {'connected_gene': 'ELOVL2', 'score': 1.73}, {'connected_gene': 'GC06M011208', 'score': 0.34}, {'connected_gene': 'LOC105374925', 'score': 0.22}]
chr6	GH06I011299	11299265	11299393	0.93	[{'connected_gene': 'NEDD9', 'score': 5.29}, {'connected_gene': 'TMEM170B', 'score': 3.55}, {'connected_gene': 'MAK', 'score': 1.96}, {'connected_gene': 'ELOVL2', 'score': 1.84}, {'connected_gene': 'LOC105374925', 'score': 0.44}, {'connected_gene': 'GC06M011330', 'score': 0.21}]
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	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	GH06I010951	10951620	10952317	0.96	[{'connected_gene': 'ELOVL2-AS1', 'score': 10.82}, {'connected_gene': 'ELOVL2', 'score': 10.82}, {'connected_gene': 'SYCP2L', 'score': 5.89}, {'connected_gene': 'LOC101928191', 'score': 0.77}, {'connected_gene': 'GC06M010903', 'score': 0.26}]
chr6	GH06I011007	11007083	11010069	1.28	[{'connected_gene': 'ELOVL2-AS1', 'score': 11.31}, {'connected_gene': 'ELOVL2', 'score': 11.29}, {'connected_gene': 'SYCP2L', 'score': 6.62}, {'connected_gene': 'LOC100421248', 'score': 0.44}, {'connected_gene': 'LOC101928191', 'score': 0.23}]
chr6	GH06I011072	11072156	11072411	0.44	[{'connected_gene': 'ELOVL2-AS1', 'score': 10.76}, {'connected_gene': 'ELOVL2', 'score': 10.76}, {'connected_gene': 'GC06P011110', 'score': 0.44}, {'connected_gene': 'PIR60223', 'score': 0.44}, {'connected_gene': 'PIR31848', 'score': 0.34}]
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	GH06I010595	10595402	10599399	1.27	[{'connected_gene': 'GCNT2P', 'score': 12.46}, {'connected_gene': 'PAK1IP1', 'score': 11.33}, {'connected_gene': 'C6orf52', 'score': 11.33}, {'connected_gene': 'GCNT2', 'score': 10.42}, {'connected_gene': 'ELOVL2', 'score': 4.29}, {'connected_gene': 'RPL21P63', 'score': 0.34}, {'connected_gene': 'PIR63050', 'score': 0.31}]
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}]