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
ENST00000522735	[[30589763, 30589887], [30601844, 30601977], [30608912, 30609035], [30610551, 30610622], [30612181, 30612304], [30614281, 30614404], [30618404, 30618446], [30620789, 30620863]]	None
ENST00000522968	[[30590135, 30590825], [30608912, 30609035]]	None
ENST00000517341	[[30601681, 30601794], [30608912, 30609035], [30610551, 30610622], [30612181, 30612304], [30614281, 30614404], [30618404, 30618446], [30620789, 30620863], [30623742, 30624522]]	None
ENST00000265616	[[30601689, 30601794], [30608912, 30609035], [30610551, 30610622], [30612181, 30612304], [30614281, 30614404], [30618404, 30618446], [30620789, 30620843], [30620845, 30620863], [30623742, 30624522]]	None
ENST00000380154	[[30601689, 30601794], [30610507, 30610519], [30610551, 30610622], [30612181, 30612304], [30614281, 30614404], [30618404, 30618446], [30620789, 30620843], [30620845, 30620863], [30623742, 30624522]]	None
ENST00000341403	[[30601689, 30601794], [30608912, 30609035], [30610551, 30610622], [30614281, 30614404], [30618404, 30618446], [30620789, 30620843], [30620845, 30620863], [30623742, 30624522]]	None
ENST00000519246	[[30601690, 30601977], [30608912, 30609035], [30610551, 30610622], [30612181, 30612304], [30614281, 30614404], [30618404, 30618446], [30620789, 30620863], [30623742, 30624522]]	None
ENST00000523607	[[30601705, 30601794], [30608912, 30609035], [30610551, 30610622], [30614281, 30614404], [30618404, 30618446], [30620789, 30620863], [30623742, 30624421]]	None
ENST00000518239	[[30601706, 30601794], [30609023, 30609035], [30610551, 30610622], [30612181, 30612304], [30614281, 30614404], [30618404, 30618446], [30620789, 30620863], [30623742, 30623910]]	None
ENST00000518059	[[30608913, 30609035], [30610551, 30610622], [30612181, 30612266], [30614281, 30614404], [30618404, 30618446], [30620789, 30620839]]	None
ENST00000521598	[[30613635, 30613800], [30614281, 30614404], [30618404, 30618446], [30620789, 30620863], [30623742, 30623816]]	None
ENST00000520436	[[30620662, 30620863], [30623742, 30624068]]	None
NM_001282189	[[30601681, 30601794], [30609023, 30609035], [30610551, 30610622], [30612181, 30612304], [30614281, 30614404], [30618404, 30618446], [30620789, 30620842], [30620844, 30620863], [30623742, 30624522]]	[[30601706, 30601794], [30609023, 30609035], [30610551, 30610622], [30612181, 30612304], [30614281, 30614404], [30618404, 30618446], [30620789, 30620842], [30620844, 30620863], [30623742, 30623910]]
NM_001282199	[[30601681, 30601794], [30608912, 30609035], [30610551, 30610622], [30614281, 30614404], [30618404, 30618446], [30620789, 30620842], [30620844, 30620863], [30623742, 30624522]]	[[30601706, 30601794], [30608912, 30609035], [30610551, 30610622], [30614281, 30614404], [30618404, 30618446], [30620789, 30620842], [30620844, 30620863], [30623742, 30623910]]
NM_005671	[[30601681, 30601794], [30608912, 30609035], [30610551, 30610622], [30612181, 30612304], [30614281, 30614404], [30618404, 30618446], [30620789, 30620842], [30620844, 30620863], [30623742, 30624522]]	[[30601706, 30601794], [30608912, 30609035], [30610551, 30610622], [30612181, 30612304], [30614281, 30614404], [30618404, 30618446], [30620789, 30620842], [30620844, 30620863], [30623742, 30623910]]

Promoter

Chrom	Start	End	Description
chr8	30601667	30601710	CAGE_peak_1_at_UBXN8_5end
chr8	30601918	30601941	CAGE_peak_2_at_UBXN8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I030719	30719539	30721199	0.83	[{'connected_gene': 'UBXN8', 'score': 7.88}, {'connected_gene': 'ENSG00000272375', 'score': 4.52}, {'connected_gene': 'GSR', 'score': 0.44}, {'connected_gene': 'GTF2E2', 'score': 0.21}]
chr8	GH08I030714	30714904	30715638	0.49	[{'connected_gene': 'UBXN8', 'score': 9.68}, {'connected_gene': 'GSR', 'score': 0.39}, {'connected_gene': 'GTF2E2', 'score': 0.22}]
chr8	GH08I030742	30742910	30745373	2.26	[{'connected_gene': 'UBXN8', 'score': 558.46}, {'connected_gene': 'GC08M030742', 'score': 550.77}, {'connected_gene': 'LOC105379355', 'score': 550.77}, {'connected_gene': 'WRN', 'score': 13.11}, {'connected_gene': 'GTF2E2', 'score': 11.56}, {'connected_gene': 'RPS15AP24', 'score': 10.83}, {'connected_gene': 'PPP2CB', 'score': 10.77}, {'connected_gene': 'RNU5A-3P', 'score': 10.06}, {'connected_gene': 'GSR', 'score': 9.73}]
chr8	GH08I031032	31032800	31035767	2.33	[{'connected_gene': 'WRN', 'score': 566.21}, {'connected_gene': 'PURG', 'score': 555.36}, {'connected_gene': 'GTF2E2', 'score': 23.84}, {'connected_gene': 'RPS15AP24', 'score': 12.17}, {'connected_gene': 'KCTD9P6', 'score': 11.52}, {'connected_gene': 'UBXN8', 'score': 1.25}, {'connected_gene': 'SUMO2P16', 'score': 0.15}]
chr8	GH08I030710	30710396	30711578	0.38	[{'connected_gene': 'PPP2CB', 'score': 10.45}, {'connected_gene': 'UBXN8', 'score': 9.52}, {'connected_gene': 'GSR', 'score': 0.37}, {'connected_gene': 'GTF2E2', 'score': 0.23}]
chr8	GH08I030102	30102596	30104613	0.86	[{'connected_gene': 'SARAF', 'score': 12.2}, {'connected_gene': 'UBXN8', 'score': 4.89}, {'connected_gene': 'GC08M030097', 'score': 0.44}, {'connected_gene': 'LEPROTL1', 'score': 0.44}, {'connected_gene': 'RPS15AP24', 'score': 0.39}]
chr8	GH08I030721	30721705	30731980	2.42	[{'connected_gene': 'GSR', 'score': 560.49}, {'connected_gene': 'UBXN8', 'score': 8.91}, {'connected_gene': 'ENSG00000272375', 'score': 4.77}, {'connected_gene': 'GTF2E2', 'score': 4.47}, {'connected_gene': 'RBPMS-AS1', 'score': 4.37}]
chr8	GH08I030737	30737202	30737468	0.55	[{'connected_gene': 'GSR', 'score': 9.05}, {'connected_gene': 'PIR49055', 'score': 0.77}, {'connected_gene': 'UBXN8', 'score': 0.44}, {'connected_gene': 'LOC105379355', 'score': 0.44}]
chr8	GH08I030115	30115163	30116101	0.31	[{'connected_gene': 'LEPROTL1', 'score': 35.75}, {'connected_gene': 'UBXN8', 'score': 5.3}, {'connected_gene': 'RPS15AP24', 'score': 0.77}, {'connected_gene': 'GC08M030097', 'score': 0.34}]
chr8	GH08I029935	29935504	29937607	0.43	[{'connected_gene': 'RNU6-1218P', 'score': 10.84}, {'connected_gene': 'DUSP4', 'score': 10.15}, {'connected_gene': 'UBXN8', 'score': 4.76}, {'connected_gene': 'LINC02209', 'score': 0.37}, {'connected_gene': 'MIR3148', 'score': 0.34}]
chr8	GH08I030390	30390176	30402482	1.28	[{'connected_gene': 'RBPMS-AS1', 'score': 9.68}, {'connected_gene': 'UBXN8', 'score': 7.57}, {'connected_gene': 'GTF2E2', 'score': 4.25}, {'connected_gene': 'SARAF', 'score': 4.16}, {'connected_gene': 'RBPMS', 'score': 0.39}, {'connected_gene': 'PIR31328', 'score': 0.1}]
chr8	GH08I030382	30382627	30388044	2.18	[{'connected_gene': 'RBPMS-AS1', 'score': 576.34}, {'connected_gene': 'RBPMS', 'score': 550.77}, {'connected_gene': 'UBXN8', 'score': 5.19}, {'connected_gene': 'SARAF', 'score': 4.31}]
chr8	GH08I030436	30436208	30443278	1.05	[{'connected_gene': 'RBPMS-AS1', 'score': 12.13}, {'connected_gene': 'RBPMS', 'score': 12.12}, {'connected_gene': 'UBXN8', 'score': 5.79}, {'connected_gene': 'GTF2E2', 'score': 5.61}, {'connected_gene': 'PPIAP84', 'score': 4.86}, {'connected_gene': 'PIR31328', 'score': 0.14}]
chr8	GH08I030735	30735924	30735953	0.56	[{'connected_gene': 'PIR49055', 'score': 550.77}, {'connected_gene': 'UBXN8', 'score': 0.44}, {'connected_gene': 'LOC105379355', 'score': 0.44}]
chr8	GH08I030743	30742519	30742833	0.65	[{'connected_gene': 'GC08M030742', 'score': 550.77}, {'connected_gene': 'LOC105379355', 'score': 550.77}, {'connected_gene': 'PPP2CB', 'score': 10.77}, {'connected_gene': 'RNU5A-3P', 'score': 10.06}, {'connected_gene': 'GSR', 'score': 8.86}, {'connected_gene': 'PIR49055', 'score': 0.44}, {'connected_gene': 'UBXN8', 'score': 0.39}]