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
ENST00000378164	[[120743014, 120744426], [120754773, 120754896], [120756527, 120756633], [120758944, 120759174], [120768245, 120768355], [120770312, 120770382], [120772838, 120772978], [120774654, 120774848], [120790258, 120790369], [120793292, 120793433], [120795620, 120795873], [120797440, 120797506], [120800577, 120800687], [120801029, 120801144], [120801831, 120801986], [120803563, 120803699], [120805605, 120805691], [120807771, 120807871], [120809229, 120809343], [120809901, 120810086], [120814033, 120814265], [120816117, 120816259], [120818522, 120818641], [120831585, 120831746], [120843916, 120843971], [120844721, 120845103]]	[[120744163, 120744426], [120754773, 120754896], [120756527, 120756633], [120758944, 120759174], [120768245, 120768355], [120770312, 120770382], [120772838, 120772978], [120774654, 120774848], [120790258, 120790369], [120793292, 120793433], [120795620, 120795873], [120797440, 120797506], [120800577, 120800687], [120801029, 120801144], [120801831, 120801986], [120803563, 120803699], [120805605, 120805691], [120807771, 120807871], [120809229, 120809343], [120809901, 120810086], [120814033, 120814265], [120816117, 120816259], [120818522, 120818641], [120831585, 120831746], [120843916, 120843971], [120844721, 120844804]]
ENST00000529653	[[120744054, 120744426], [120754773, 120754896], [120756527, 120756633], [120757120, 120757276], [120758944, 120759174], [120768245, 120768355], [120770312, 120770382], [120772838, 120772908]]	[[120744163, 120744426], [120754773, 120754896], [120756527, 120756633], [120757120, 120757276], [120758944, 120759174], [120768245, 120768355], [120770312, 120770382], [120772838, 120772908]]
ENST00000526969	[[120744301, 120744426], [120754773, 120754896], [120756527, 120756826]]	None
ENST00000519355	[[120759105, 120759174], [120768245, 120768355], [120770312, 120770382], [120772838, 120772978], [120774654, 120774848], [120779242, 120779368]]	None
ENST00000523078	[[120768295, 120768355], [120770312, 120770382], [120772838, 120772978], [120774654, 120775148]]	None
ENST00000523098	[[120772694, 120772978], [120773847, 120774012], [120774654, 120774774]]	[[120773930, 120774012], [120774654, 120774774]]
ENST00000523904	[[120800593, 120800687], [120801029, 120801144], [120801831, 120801986], [120803563, 120803699], [120805605, 120805691], [120807771, 120807871], [120809901, 120810070]]	[[120800593, 120800687], [120801029, 120801144], [120801831, 120801986], [120803563, 120803699], [120805605, 120805691], [120807771, 120807871], [120809901, 120810070]]
ENST00000523734	[[120801918, 120801986], [120803563, 120804114]]	None
ENST00000521007	[[120816200, 120816259], [120818522, 120818641], [120843916, 120843971], [120844721, 120845074]]	[[120818596, 120818641], [120843916, 120843971], [120844721, 120844804]]
NM_003184	[[120743013, 120744426], [120754773, 120754896], [120756527, 120756633], [120758944, 120759174], [120768245, 120768355], [120770312, 120770382], [120772838, 120772978], [120774654, 120774848], [120790258, 120790369], [120793292, 120793433], [120795620, 120795873], [120797440, 120797506], [120800577, 120800687], [120801029, 120801144], [120801831, 120801986], [120803563, 120803699], [120805605, 120805691], [120807771, 120807871], [120809229, 120809343], [120809901, 120810086], [120814033, 120814265], [120816117, 120816259], [120818522, 120818641], [120831585, 120831746], [120843916, 120843971], [120844721, 120845074]]	[[120744163, 120744426], [120754773, 120754896], [120756527, 120756633], [120758944, 120759174], [120768245, 120768355], [120770312, 120770382], [120772838, 120772978], [120774654, 120774848], [120790258, 120790369], [120793292, 120793433], [120795620, 120795873], [120797440, 120797506], [120800577, 120800687], [120801029, 120801144], [120801831, 120801986], [120803563, 120803699], [120805605, 120805691], [120807771, 120807871], [120809229, 120809343], [120809901, 120810086], [120814033, 120814265], [120816117, 120816259], [120818522, 120818641], [120831585, 120831746], [120843916, 120843971], [120844721, 120844804]]

Promoter

Chrom	Start	End	Description
chr8	120845068	120845089	CAGE_peak_1_at_TAF2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I119866	119866699	119867890	0.98	[{'connected_gene': 'DSCC1', 'score': 38.26}, {'connected_gene': 'COL14A1', 'score': 10.93}, {'connected_gene': 'TAF2', 'score': 10.64}, {'connected_gene': 'RN7SL396P', 'score': 0.77}, {'connected_gene': 'DEPTOR', 'score': 0.44}, {'connected_gene': 'ENSG00000245330', 'score': 0.44}]
chr8	GH08I119902	119902691	119904516	0.43	[{'connected_gene': 'DSCC1', 'score': 23.67}, {'connected_gene': 'ENSG00000245330', 'score': 11.45}, {'connected_gene': 'TAF2', 'score': 7.56}, {'connected_gene': 'PIR41964', 'score': 0.77}, {'connected_gene': 'DEPTOR', 'score': 0.31}, {'connected_gene': 'GC08M119936', 'score': 0.21}]
chr8	GH08I119854	119854859	119857339	2.02	[{'connected_gene': 'DSCC1', 'score': 616.28}, {'connected_gene': 'TAF2', 'score': 24.34}, {'connected_gene': 'RN7SL396P', 'score': 0.44}, {'connected_gene': 'LOC105375728', 'score': 0.34}]
chr8	GH08I119907	119907524	119909818	0.58	[{'connected_gene': 'DSCC1', 'score': 22.94}, {'connected_gene': 'DEPTOR', 'score': 14.5}, {'connected_gene': 'ENSG00000245330', 'score': 11.07}, {'connected_gene': 'TAF2', 'score': 7.55}, {'connected_gene': 'PIR41964', 'score': 0.44}, {'connected_gene': 'GC08M119936', 'score': 0.22}]
chr8	GH08I119923	119923525	119924740	0.31	[{'connected_gene': 'DSCC1', 'score': 22.89}, {'connected_gene': 'DEPTOR', 'score': 18.04}, {'connected_gene': 'ENSG00000245330', 'score': 10.61}, {'connected_gene': 'TAF2', 'score': 6.18}, {'connected_gene': 'PIR41964', 'score': 0.34}, {'connected_gene': 'GC08M119936', 'score': 0.26}]
chr8	GH08I119914	119914741	119918477	1.28	[{'connected_gene': 'DSCC1', 'score': 22.76}, {'connected_gene': 'DEPTOR', 'score': 18.66}, {'connected_gene': 'ENSG00000245330', 'score': 11.27}, {'connected_gene': 'MTBP', 'score': 10.85}, {'connected_gene': 'TAF2', 'score': 7.33}, {'connected_gene': 'PIR41964', 'score': 0.37}, {'connected_gene': 'GC08M119936', 'score': 0.23}]
chr8	GH08I119871	119871221	119871370	0.68	[{'connected_gene': 'COL14A1', 'score': 10.94}, {'connected_gene': 'TAF2', 'score': 10.62}, {'connected_gene': 'DEPTOR', 'score': 0.77}, {'connected_gene': 'ENSG00000245330', 'score': 0.77}, {'connected_gene': 'RN7SL396P', 'score': 0.44}]
chr8	GH08I119738	119738610	119740193	0.38	[{'connected_gene': 'TAF2', 'score': 7.49}, {'connected_gene': 'DSCC1', 'score': 5.17}, {'connected_gene': 'DEPTOR', 'score': 4.39}, {'connected_gene': 'RN7SKP153', 'score': 0.31}]
chr8	GH08I119980	119980301	119980450	0.94	[{'connected_gene': 'TAF2', 'score': 17.93}, {'connected_gene': 'COL14A1', 'score': 11.43}, {'connected_gene': 'DSCC1', 'score': 4.25}, {'connected_gene': 'GC08M119936', 'score': 0.39}, {'connected_gene': 'GC08P120015', 'score': 0.28}, {'connected_gene': 'DEPTOR', 'score': 0.14}]
chr8	GH08I120803	120803201	120804200	1.06	[{'connected_gene': 'TAF2', 'score': 20.07}, {'connected_gene': 'SNTB1', 'score': 1.7}, {'connected_gene': 'ENSG00000272502', 'score': 0.44}, {'connected_gene': 'LOC101927543', 'score': 0.26}]
chr8	GH08I119176	119176251	119179304	0.75	[{'connected_gene': 'TAF2', 'score': 13.04}, {'connected_gene': 'MAL2', 'score': 11.84}, {'connected_gene': 'LOC105375725', 'score': 0.31}, {'connected_gene': 'MAL2-AS1', 'score': 0.2}]
chr8	GH08I119831	119831755	119833971	2.05	[{'connected_gene': 'TAF2', 'score': 579.34}, {'connected_gene': 'LOC105375728', 'score': 550.77}, {'connected_gene': 'DSCC1', 'score': 29.41}, {'connected_gene': 'RN7SKP153', 'score': 0.13}]
chr8	GH08I120082	120082054	120085291	1.27	[{'connected_gene': 'DEPTOR', 'score': 18.54}, {'connected_gene': 'ENSG00000254343', 'score': 15.48}, {'connected_gene': 'DSCC1', 'score': 15.04}, {'connected_gene': 'TAF2', 'score': 9.36}, {'connected_gene': 'COL14A1', 'score': 0.34}, {'connected_gene': 'LOC105375730', 'score': 0.34}, {'connected_gene': 'PIR54850', 'score': 0.28}]
chr8	GH08I119930	119930416	119931891	0.2	[{'connected_gene': 'DEPTOR', 'score': 10.67}, {'connected_gene': 'ENSG00000245330', 'score': 10.58}, {'connected_gene': 'DSCC1', 'score': 6.92}, {'connected_gene': 'TAF2', 'score': 5.45}, {'connected_gene': 'PIR41964', 'score': 0.31}, {'connected_gene': 'GC08M119936', 'score': 0.28}]
chr8	GH08I119894	119894844	119896681	0.9	[{'connected_gene': 'DEPTOR', 'score': 27.82}, {'connected_gene': 'ENSG00000245330', 'score': 11.62}, {'connected_gene': 'TAF2', 'score': 10.01}, {'connected_gene': 'DSCC1', 'score': 7.78}, {'connected_gene': 'GC08M119893', 'score': 0.77}, {'connected_gene': 'RNA5SP277', 'score': 0.77}, {'connected_gene': 'PIR41964', 'score': 0.44}]
chr8	GH08I119941	119941394	119943654	0.57	[{'connected_gene': 'DEPTOR', 'score': 11.73}, {'connected_gene': 'TAF2', 'score': 6.2}, {'connected_gene': 'ENSG00000245330', 'score': 5.79}, {'connected_gene': 'GC08M119936', 'score': 0.31}, {'connected_gene': 'PIR41964', 'score': 0.26}]
chr8	GH08I119998	119998215	119999042	0.2	[{'connected_gene': 'DEPTOR', 'score': 11.94}, {'connected_gene': 'MAL2-AS1', 'score': 5.19}, {'connected_gene': 'ENSG00000245330', 'score': 5.09}, {'connected_gene': 'TAF2', 'score': 4.45}, {'connected_gene': 'GC08P120015', 'score': 0.37}, {'connected_gene': 'GC08M119936', 'score': 0.29}]
chr8	GH08I119573	119573610	119574919	1.01	[{'connected_gene': 'NOV', 'score': 7.16}, {'connected_gene': 'ENPP2', 'score': 6.05}, {'connected_gene': 'TAF2', 'score': 2.68}, {'connected_gene': 'CYCSP23', 'score': 0.26}, {'connected_gene': 'LOC392264', 'score': 0.16}]
chr8	GH08I119706	119706641	119708887	0.56	[{'connected_gene': 'ENPP2', 'score': 12.27}, {'connected_gene': 'TAF2', 'score': 9.22}, {'connected_gene': 'DSCC1', 'score': 4.71}, {'connected_gene': 'RN7SKP153', 'score': 0.77}]
chr8	GH08I119721	119721360	119722991	1.07	[{'connected_gene': 'ENPP2', 'score': 11.58}, {'connected_gene': 'TAF2', 'score': 9.55}, {'connected_gene': 'DSCC1', 'score': 4.12}, {'connected_gene': 'RN7SKP153', 'score': 0.39}]
chr8	GH08I120443	120443667	120446279	2.34	[{'connected_gene': 'MTBP', 'score': 574.24}, {'connected_gene': 'MRPL13', 'score': 551.96}, {'connected_gene': 'TAF2', 'score': 41.2}, {'connected_gene': 'SNTB1', 'score': 1.27}, {'connected_gene': 'PIR54850', 'score': 0.05}]
chr8	GH08I119767	119767781	119767990	0.88	[{'connected_gene': 'RN7SKP153', 'score': 0.22}, {'connected_gene': 'TAF2', 'score': 0.21}]
chr8	GH08I119769	119769081	119769190	0.62	[{'connected_gene': 'RN7SKP153', 'score': 0.22}, {'connected_gene': 'TAF2', 'score': 0.21}]
chr8	GH08I119862	119862601	119863401	0.59	[{'connected_gene': 'RN7SL396P', 'score': 550.77}, {'connected_gene': 'DSCC1', 'score': 52.04}, {'connected_gene': 'TAF2', 'score': 11.26}, {'connected_gene': 'COL14A1', 'score': 10.93}, {'connected_gene': 'MRPL13', 'score': 10.01}, {'connected_gene': 'MTBP', 'score': 10.01}, {'connected_gene': 'DEPTOR', 'score': 8.45}]
chr8	GH08I119898	119898730	119900178	0.2	[{'connected_gene': 'PIR41964', 'score': 550.77}, {'connected_gene': 'DEPTOR', 'score': 27.79}, {'connected_gene': 'DSCC1', 'score': 23.29}, {'connected_gene': 'ENSG00000245330', 'score': 11.2}, {'connected_gene': 'COL14A1', 'score': 10.92}, {'connected_gene': 'TAF2', 'score': 10.0}, {'connected_gene': 'GC08M119893', 'score': 0.44}, {'connected_gene': 'RNA5SP277', 'score': 0.44}]
chr8	GH08I119892	119892121	119894137	1	[{'connected_gene': 'GC08M119893', 'score': 550.77}, {'connected_gene': 'RNA5SP277', 'score': 550.77}, {'connected_gene': 'DSCC1', 'score': 32.45}, {'connected_gene': 'ENSG00000245330', 'score': 11.53}, {'connected_gene': 'COL14A1', 'score': 10.95}, {'connected_gene': 'TAF2', 'score': 10.01}, {'connected_gene': 'PIR41964', 'score': 0.44}, {'connected_gene': 'DEPTOR', 'score': 0.37}]