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

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I069166	69166042	69168783	2.05	[{'connected_gene': 'CCNB1', 'score': 550.77}, {'connected_gene': 'CCDC125', 'score': 21.8}, {'connected_gene': 'GTF2H2C', 'score': 19.12}, {'connected_gene': 'RAD17', 'score': 7.14}, {'connected_gene': 'PIR41528', 'score': 0.34}]
chr5	GH05I069516	69516342	69522247	1.44	[{'connected_gene': 'GTF2H2C', 'score': 35.45}, {'connected_gene': 'ENSG00000198237', 'score': 32.17}, {'connected_gene': 'ENSG00000254701', 'score': 30.22}, {'connected_gene': 'GUSBP3', 'score': 22.98}, {'connected_gene': 'ENSG00000253333', 'score': 22.88}, {'connected_gene': 'CDH12P2', 'score': 21.21}, {'connected_gene': 'SLC30A5', 'score': 20.59}, {'connected_gene': 'RAD17', 'score': 17.03}, {'connected_gene': 'SMA4', 'score': 12.75}, {'connected_gene': 'OCLN', 'score': 11.89}, {'connected_gene': 'MARVELD2', 'score': 10.82}, {'connected_gene': 'GTF2H2B', 'score': 10.66}, {'connected_gene': 'AK6', 'score': 10.47}, {'connected_gene': 'CDK7', 'score': 10.32}, {'connected_gene': 'SERF1B', 'score': 9.72}, {'connected_gene': 'ENSG00000250138', 'score': 5.01}, {'connected_gene': 'SMN2', 'score': 4.36}, {'connected_gene': 'GC05M069532', 'score': 0.39}, {'connected_gene': 'RNU6-724P', 'score': 0.39}, {'connected_gene': 'LOC101928924', 'score': 0.37}]
chr5	GH05I069559	69559493	69561133	1.97	[{'connected_gene': 'GTF2H2C', 'score': 550.77}, {'connected_gene': 'GUSBP3', 'score': 11.92}, {'connected_gene': 'ENSG00000248477', 'score': 0.25}]
chr5	GH05I069334	69334602	69336762	1.08	[{'connected_gene': 'CHCHD2P2', 'score': 550.77}, {'connected_gene': 'GC05P069334', 'score': 550.77}, {'connected_gene': 'CCDC125', 'score': 20.69}, {'connected_gene': 'GTF2H2C', 'score': 17.93}, {'connected_gene': 'SLC30A5', 'score': 14.57}, {'connected_gene': 'MARVELD2', 'score': 11.25}, {'connected_gene': 'CENPH', 'score': 10.95}, {'connected_gene': 'ENSG00000254701', 'score': 9.86}, {'connected_gene': 'NDUFB9P1', 'score': 0.39}]
chr5	GH05I069523	69523985	69529003	1.19	[{'connected_gene': 'GUSBP3', 'score': 15.45}, {'connected_gene': 'LOC101928924', 'score': 11.57}, {'connected_gene': 'OCLN', 'score': 11.52}, {'connected_gene': 'ENSG00000198237', 'score': 8.56}, {'connected_gene': 'GTF2H2C', 'score': 5.88}, {'connected_gene': 'GC05M069532', 'score': 0.77}, {'connected_gene': 'RNU6-724P', 'score': 0.77}]
chr5	GH05I069093	69093220	69095667	2.09	[{'connected_gene': 'SLC30A5', 'score': 556.28}, {'connected_gene': 'SNORA50D', 'score': 11.81}, {'connected_gene': 'CCNB1', 'score': 11.79}, {'connected_gene': 'CENPH', 'score': 11.4}, {'connected_gene': 'GTF2H2C', 'score': 10.3}, {'connected_gene': 'OCLN', 'score': 5.81}, {'connected_gene': 'SMN2', 'score': 5.44}, {'connected_gene': 'ENSG00000248664', 'score': 0.26}]
chr5	GH05I069330	69330828	69334200	2.06	[{'connected_gene': 'CCDC125', 'score': 572.05}, {'connected_gene': 'CHCHD2P2', 'score': 550.77}, {'connected_gene': 'GC05P069334', 'score': 550.77}, {'connected_gene': 'ENSG00000198237', 'score': 21.76}, {'connected_gene': 'ENSG00000254701', 'score': 21.28}, {'connected_gene': 'GTF2H2C', 'score': 11.1}, {'connected_gene': 'SLC30A5', 'score': 10.85}, {'connected_gene': 'SMA4', 'score': 10.83}, {'connected_gene': 'AK6', 'score': 10.64}, {'connected_gene': 'CDK7', 'score': 9.91}, {'connected_gene': 'ENSG00000179978', 'score': 6.27}, {'connected_gene': 'CFL1P5', 'score': 0.37}]
chr5	GH05I070400	70400201	70404017	1.01	[{'connected_gene': 'LOC105379021', 'score': 550.77}, {'connected_gene': 'GTF2H2C', 'score': 10.8}, {'connected_gene': 'LOC653406', 'score': 10.5}, {'connected_gene': 'GTF2H2B', 'score': 0.39}]
chr5	GH05I069233	69233799	69236033	2.06	[{'connected_gene': 'CDK7', 'score': 565.02}, {'connected_gene': 'CCDC125', 'score': 20.64}, {'connected_gene': 'SLC30A5', 'score': 17.66}, {'connected_gene': 'GTF2H2C', 'score': 16.33}, {'connected_gene': 'ENSG00000198237', 'score': 12.79}, {'connected_gene': 'ENSG00000254701', 'score': 12.63}, {'connected_gene': 'CENPH', 'score': 11.42}, {'connected_gene': 'CCNB1', 'score': 11.23}, {'connected_gene': 'SNORA50D', 'score': 10.66}, {'connected_gene': 'SMN2', 'score': 10.33}, {'connected_gene': 'CDH12P2', 'score': 5.4}, {'connected_gene': 'GC05P069260', 'score': 0.34}, {'connected_gene': 'GC05P069259', 'score': 0.34}]
chr5	GH05I069498	69498817	69504308	1.35	[{'connected_gene': 'LOC101928924', 'score': 550.77}, {'connected_gene': 'MARVELD2', 'score': 11.66}, {'connected_gene': 'RNU6-724P', 'score': 11.46}, {'connected_gene': 'GUSBP3', 'score': 9.4}, {'connected_gene': 'OCLN', 'score': 5.73}, {'connected_gene': 'GTF2H2C', 'score': 5.3}, {'connected_gene': 'GC05P069473', 'score': 0.31}]
chr5	GH05I069533	69533130	69533633	0.2	[{'connected_gene': 'LOC101928924', 'score': 11.18}, {'connected_gene': 'OCLN', 'score': 11.15}, {'connected_gene': 'GUSBP3', 'score': 8.1}, {'connected_gene': 'GC05M069532', 'score': 0.77}, {'connected_gene': 'RNU6-724P', 'score': 0.77}, {'connected_gene': 'GTF2H2C', 'score': 0.31}]
chr5	GH05I069449	69449754	69455961	1.26	[{'connected_gene': 'OCLN', 'score': 22.97}, {'connected_gene': 'CCDC125', 'score': 16.23}, {'connected_gene': 'RAD17', 'score': 14.93}, {'connected_gene': 'LOC101928924', 'score': 12.7}, {'connected_gene': 'MARVELD2', 'score': 12.29}, {'connected_gene': 'GTF2H2C', 'score': 6.02}, {'connected_gene': 'ENSG00000250138', 'score': 5.98}, {'connected_gene': 'ENSG00000198237', 'score': 5.25}, {'connected_gene': 'SMN2', 'score': 4.35}, {'connected_gene': 'GC05P069455', 'score': 0.77}, {'connected_gene': 'GC05M069454', 'score': 0.77}]
chr5	GH05I069601	69601801	69602600	0.38	[{'connected_gene': 'ENSG00000248477', 'score': 0.77}, {'connected_gene': 'GTF2H2C', 'score': 0.26}]
chr5	GH05I069595	69595601	69597200	0.2	[{'connected_gene': 'ENSG00000248477', 'score': 0.39}, {'connected_gene': 'GTF2H2C', 'score': 0.28}]
chr5	GH05I069188	69188525	69190924	2.04	[{'connected_gene': 'PIR48224', 'score': 550.77}, {'connected_gene': 'ENSG00000280187', 'score': 550.77}, {'connected_gene': 'PIR42195', 'score': 550.77}, {'connected_gene': 'CENPH', 'score': 550.77}, {'connected_gene': 'PIR38105', 'score': 550.77}, {'connected_gene': 'PIR41528', 'score': 550.77}, {'connected_gene': 'CCDC125', 'score': 17.2}, {'connected_gene': 'CDK7', 'score': 13.14}, {'connected_gene': 'CCNB1', 'score': 12.14}, {'connected_gene': 'SNORA50D', 'score': 12.11}, {'connected_gene': 'GTF2H2C', 'score': 10.31}, {'connected_gene': 'MARVELD2', 'score': 4.36}, {'connected_gene': 'MRPS36', 'score': 0.31}]
chr5	GH05I069544	69544563	69545653	0.2	[{'connected_gene': 'GC05M069532', 'score': 0.39}, {'connected_gene': 'RNU6-724P', 'score': 0.39}, {'connected_gene': 'GTF2H2C', 'score': 0.37}, {'connected_gene': 'OCLN', 'score': 0.23}]
chr5	GH05I069540	69540395	69544060	0.2	[{'connected_gene': 'GC05M069532', 'score': 0.39}, {'connected_gene': 'RNU6-724P', 'score': 0.39}, {'connected_gene': 'GTF2H2C', 'score': 0.37}, {'connected_gene': 'OCLN', 'score': 0.25}]
chr5	GH05I069529	69529864	69531904	0.43	[{'connected_gene': 'GC05M069532', 'score': 550.77}, {'connected_gene': 'RNU6-724P', 'score': 550.77}, {'connected_gene': 'LOC101928924', 'score': 11.2}, {'connected_gene': 'OCLN', 'score': 11.16}, {'connected_gene': 'ENSG00000250138', 'score': 8.09}, {'connected_gene': 'GTF2H2C', 'score': 6.16}]
chr5	GH05I069532	69532098	69532525	0.2	[{'connected_gene': 'GC05M069532', 'score': 550.77}, {'connected_gene': 'RNU6-724P', 'score': 550.77}, {'connected_gene': 'LOC101928924', 'score': 11.2}, {'connected_gene': 'OCLN', 'score': 11.15}, {'connected_gene': 'GTF2H2C', 'score': 5.77}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000512736	[[68856034, 68856069], [68860926, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68868271, 68868671]]	[[68860959, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68868271, 68868405]]
ENST00000514069	[[68856035, 68856069], [68858499, 68858597], [68860926, 68861015], [68861957, 68862035], [68862793, 68862880], [68863979, 68864034], [68868271, 68868377], [68874538, 68874574]]	[[68860959, 68861015], [68861957, 68862035], [68862793, 68862815]]
ENST00000511629	[[68856049, 68856069], [68860926, 68861015], [68861957, 68862035], [68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68864346, 68865838]]	[[68860959, 68861015], [68861957, 68862035], [68862793, 68862815]]
ENST00000502619	[[68856049, 68856230], [68860926, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68868271, 68868377], [68874538, 68874935], [68875583, 68875608]]	None
ENST00000506129	[[68856051, 68856069], [68860926, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68862880], [68868271, 68868377], [68874538, 68874629], [68874847, 68874935], [68875583, 68875691], [68878192, 68878256], [68881420, 68881423]]	[[68860959, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68862880], [68868271, 68868292]]
ENST00000510979	[[68856068, 68856230], [68860926, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68868271, 68868377], [68874538, 68874629], [68874847, 68874935], [68875583, 68875691], [68878192, 68878256], [68881420, 68881524], [68882080, 68882183], [68886154, 68886194], [68887905, 68889594]]	[[68860959, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68868271, 68868377], [68874538, 68874629], [68874847, 68874935], [68875583, 68875691], [68878192, 68878256], [68881420, 68881524], [68882080, 68882183], [68886154, 68886194], [68887905, 68888025]]
ENST00000514162	[[68856073, 68856230], [68860926, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68888017, 68888073]]	[[68860959, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68888017, 68888025]]
ENST00000380729	[[68856073, 68856230], [68858499, 68858597], [68860926, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68868271, 68868377], [68874538, 68874629], [68874847, 68874935], [68875583, 68875691], [68878192, 68878256], [68881420, 68881524], [68882080, 68882183], [68886154, 68886194], [68887905, 68888352]]	[[68860959, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68868271, 68868377], [68874538, 68874629], [68874847, 68874935], [68875583, 68875691], [68878192, 68878256], [68881420, 68881524], [68882080, 68882183], [68886154, 68886194], [68887905, 68888025]]
ENST00000505737	[[68856085, 68856428], [68858499, 68858597], [68860926, 68860960]]	None
ENST00000446221	[[68856120, 68856230], [68860926, 68861015], [68861957, 68862035], [68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68868271, 68868377], [68874538, 68874629], [68874847, 68874935], [68875583, 68875691], [68878192, 68878256], [68881420, 68881524], [68882080, 68882183], [68886154, 68886194], [68887905, 68888687]]	[[68860959, 68861015], [68861957, 68862035], [68862793, 68862815]]
ENST00000508344	[[68856120, 68856230], [68860926, 68861015], [68861957, 68862035], [68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68868271, 68868377], [68874538, 68874629], [68874847, 68874935], [68875583, 68875691], [68878192, 68878256], [68881420, 68881524], [68882080, 68882183], [68886154, 68886194], [68887905, 68888687]]	[[68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68868271, 68868377], [68874538, 68874629], [68874847, 68874935], [68875583, 68875691], [68878192, 68878256], [68881420, 68881524], [68882080, 68882183], [68886154, 68886194], [68887905, 68888025]]
ENST00000508325	[[68858478, 68858597], [68860926, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68863042]]	None
ENST00000507595	[[68860948, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68862880], [68863979, 68864034], [68868271, 68868377], [68874538, 68874629], [68874847, 68874935], [68875583, 68875691], [68878192, 68878247]]	[[68860959, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68862880], [68863979, 68864034], [68868271, 68868377], [68874538, 68874629], [68874847, 68874935], [68875583, 68875691], [68878192, 68878247]]
ENST00000502599	[[68860959, 68861015], [68861957, 68862313]]	None
ENST00000503604	[[68861195, 68862035], [68862415, 68862452], [68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68868271, 68868377]]	None
ENST00000513959	[[68889299, 68889532], [68890070, 68890550]]	None
NM_001098728	[[68856050, 68856230], [68860926, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68868271, 68868377], [68874538, 68874629], [68874847, 68874935], [68875583, 68875691], [68878192, 68878256], [68881420, 68881524], [68882080, 68882183], [68886154, 68886194], [68887905, 68888730]]	[[68860959, 68861015], [68861957, 68862035], [68862415, 68862452], [68862793, 68862880], [68863553, 68863604], [68863979, 68864034], [68868271, 68868377], [68874538, 68874629], [68874847, 68874935], [68875583, 68875691], [68878192, 68878256], [68881420, 68881524], [68882080, 68882183], [68886154, 68886194], [68887905, 68888025]]