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
ENST00000478427	[[52101478, 52101966], [52103527, 52103965]]	None
ENST00000336123	[[52101478, 52101966], [52103527, 52103748], [52109194, 52109335]]	[[52101728, 52101966], [52103527, 52103748], [52109194, 52109227]]
NM_052872	[[52101483, 52101966], [52103527, 52103748], [52109194, 52109298]]	[[52101728, 52101966], [52103527, 52103748], [52109194, 52109227]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I052422	52422908	52425971	1.04	[{'connected_gene': 'TRAM2', 'score': 10.79}, {'connected_gene': 'TRAM2-AS1', 'score': 10.79}, {'connected_gene': 'SLC25A20P1', 'score': 9.02}, {'connected_gene': 'IL17F', 'score': 9.02}, {'connected_gene': 'EFHC1', 'score': 7.57}, {'connected_gene': 'PAQR8', 'score': 5.8}, {'connected_gene': 'PIR61259', 'score': 0.37}, {'connected_gene': 'PIR35463', 'score': 0.31}]
chr6	GH06I052386	52386886	52388088	0.31	[{'connected_gene': 'PAQR8', 'score': 17.69}, {'connected_gene': 'EFHC1', 'score': 16.59}, {'connected_gene': 'MCM3', 'score': 10.95}, {'connected_gene': 'SLC25A20P1', 'score': 10.2}, {'connected_gene': 'IL17F', 'score': 10.2}, {'connected_gene': 'PIR61259', 'score': 0.37}]
chr6	GH06I052216	52216812	52217901	0.49	[{'connected_gene': 'SLC25A20P1', 'score': 11.48}, {'connected_gene': 'IL17F', 'score': 11.48}, {'connected_gene': 'IL17A', 'score': 10.98}, {'connected_gene': 'MIR133B', 'score': 10.58}, {'connected_gene': 'LINCMD1', 'score': 10.58}, {'connected_gene': 'MIR206', 'score': 10.37}, {'connected_gene': 'PKHD1', 'score': 9.87}, {'connected_gene': 'LOC105375088', 'score': 0.37}, {'connected_gene': 'LOC102724327', 'score': 0.37}]
chr6	GH06I052271	52271267	52272643	0.62	[{'connected_gene': 'SLC25A20P1', 'score': 11.07}, {'connected_gene': 'IL17F', 'score': 11.07}, {'connected_gene': 'EFHC1', 'score': 10.26}, {'connected_gene': 'PAQR8', 'score': 10.15}, {'connected_gene': 'MIR133B', 'score': 9.54}, {'connected_gene': 'LINCMD1', 'score': 9.54}, {'connected_gene': 'MIR206', 'score': 9.31}, {'connected_gene': 'PIR36045', 'score': 0.44}, {'connected_gene': 'MCM3', 'score': 0.39}]
chr6	GH06I052244	52244486	52244545	0.5	[{'connected_gene': 'SLC25A20P1', 'score': 550.77}, {'connected_gene': 'IL17F', 'score': 550.77}, {'connected_gene': 'LOC105375088', 'score': 0.44}]
chr6	GH06I052130	52130136	52130760	0.4	[{'connected_gene': 'PKHD1', 'score': 10.74}, {'connected_gene': 'SLC25A20P1', 'score': 9.99}, {'connected_gene': 'IL17F', 'score': 9.99}, {'connected_gene': 'GC06P052124', 'score': 0.44}, {'connected_gene': 'GC06M052131', 'score': 0.44}]
chr6	GH06I052063	52063143	52064356	0.96	[{'connected_gene': 'PKHD1', 'score': 11.46}, {'connected_gene': 'MIR133B', 'score': 10.06}, {'connected_gene': 'LINCMD1', 'score': 10.06}, {'connected_gene': 'SLC25A20P1', 'score': 10.05}, {'connected_gene': 'IL17F', 'score': 10.05}, {'connected_gene': 'GC06P052010', 'score': 0.23}]
chr6	GH06I052101	52101177	52104972	0.63	[{'connected_gene': 'MIR133B', 'score': 10.95}, {'connected_gene': 'LINCMD1', 'score': 10.95}, {'connected_gene': 'MIR206', 'score': 10.95}, {'connected_gene': 'IL17A', 'score': 10.17}, {'connected_gene': 'SLC25A20P1', 'score': 10.03}, {'connected_gene': 'IL17F', 'score': 10.03}, {'connected_gene': 'PKHD1', 'score': 0.37}, {'connected_gene': 'GC06P052124', 'score': 0.37}]
chr6	GH06I052396	52396823	52401625	1.48	[{'connected_gene': 'MCM3', 'score': 18.93}, {'connected_gene': 'EFHC1', 'score': 18.49}, {'connected_gene': 'PAQR8', 'score': 17.57}, {'connected_gene': 'SLC25A20P1', 'score': 10.28}, {'connected_gene': 'IL17F', 'score': 10.28}, {'connected_gene': 'PIR61259', 'score': 0.44}]
chr6	GH06I052388	52388321	52392061	2.07	[{'connected_gene': 'EFHC1', 'score': 17.77}, {'connected_gene': 'PAQR8', 'score': 17.13}, {'connected_gene': 'MCM3', 'score': 16.89}, {'connected_gene': 'SLC25A20P1', 'score': 10.2}, {'connected_gene': 'IL17F', 'score': 10.2}, {'connected_gene': 'PIR61259', 'score': 0.39}]
chr6	GH06I052295	52295887	52298145	1.19	[{'connected_gene': 'EFHC1', 'score': 10.61}, {'connected_gene': 'SLC25A20P1', 'score': 9.91}, {'connected_gene': 'IL17F', 'score': 9.91}, {'connected_gene': 'MCM3', 'score': 0.39}, {'connected_gene': 'GC06P052308', 'score': 0.39}]
chr6	GH06I052397	52396068	52396444	0.4	[{'connected_gene': 'EFHC1', 'score': 11.75}, {'connected_gene': 'MCM3', 'score': 11.0}, {'connected_gene': 'SLC25A20P1', 'score': 10.11}, {'connected_gene': 'IL17F', 'score': 10.11}, {'connected_gene': 'PIR61259', 'score': 0.44}, {'connected_gene': 'PAQR8', 'score': 0.29}]
chr6	GH06I052535	52535735	52549070	1.4	[{'connected_gene': 'EFHC1', 'score': 21.03}, {'connected_gene': 'TRAM2-AS1', 'score': 18.01}, {'connected_gene': 'TRAM2', 'score': 11.82}, {'connected_gene': 'MCM3', 'score': 11.11}, {'connected_gene': 'SLC25A20P1', 'score': 9.6}, {'connected_gene': 'IL17F', 'score': 9.6}, {'connected_gene': 'PAQR8', 'score': 6.37}, {'connected_gene': 'LOC730101', 'score': 5.25}, {'connected_gene': 'GC06P052544', 'score': 0.77}, {'connected_gene': 'PIR31355', 'score': 0.39}]
chr6	GH06I052200	52200640	52202441	0.31	[{'connected_gene': 'LOC102724327', 'score': 550.77}, {'connected_gene': 'IL17F', 'score': 19.12}, {'connected_gene': 'SLC25A20P1', 'score': 11.05}, {'connected_gene': 'MIR206', 'score': 10.58}, {'connected_gene': 'MIR133B', 'score': 10.22}, {'connected_gene': 'LINCMD1', 'score': 10.22}, {'connected_gene': 'PKHD1', 'score': 9.2}, {'connected_gene': 'LOC105375088', 'score': 0.28}]
chr6	GH06I052171	52171068	52172010	0.2	[{'connected_gene': 'GC06M052169', 'score': 550.77}, {'connected_gene': 'SLC25A20P1', 'score': 10.61}, {'connected_gene': 'IL17F', 'score': 10.61}, {'connected_gene': 'MIR133B', 'score': 10.54}, {'connected_gene': 'LINCMD1', 'score': 10.54}, {'connected_gene': 'MIR206', 'score': 10.12}, {'connected_gene': 'MCM3', 'score': 9.85}, {'connected_gene': 'PKHD1', 'score': 9.65}, {'connected_gene': 'PIR51144', 'score': 0.44}]
chr6	GH06I052131	52131845	52144955	0.79	[{'connected_gene': 'GC06M052131', 'score': 550.77}, {'connected_gene': 'PKHD1', 'score': 10.71}, {'connected_gene': 'SLC25A20P1', 'score': 10.01}, {'connected_gene': 'IL17F', 'score': 10.01}, {'connected_gene': 'MIR206', 'score': 0.44}, {'connected_gene': 'GC06P052146', 'score': 0.44}, {'connected_gene': 'GC06P052145', 'score': 0.44}, {'connected_gene': 'GC06P052147', 'score': 0.44}, {'connected_gene': 'GC06P052124', 'score': 0.37}]
chr6	GH06I052154	52154246	52158352	1.41	[{'connected_gene': 'GC06P052155', 'score': 550.77}, {'connected_gene': 'IL17F', 'score': 10.88}, {'connected_gene': 'SLC25A20P1', 'score': 10.87}, {'connected_gene': 'IL17A', 'score': 10.66}, {'connected_gene': 'PKHD1', 'score': 10.13}, {'connected_gene': 'MCM3', 'score': 9.96}, {'connected_gene': 'PAQR8', 'score': 9.68}, {'connected_gene': 'GC06M052169', 'score': 0.39}]