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
ENST00000554144	[[57514154, 57514963], [57516848, 57516978], [57522022, 57522178], [57523940, 57524065], [57547420, 57547872]]	[[57514952, 57514963], [57516848, 57516978], [57522022, 57522178], [57523940, 57523982]]
ENST00000420433	[[57514154, 57514963], [57522022, 57522178], [57523940, 57524065], [57547420, 57547872]]	[[57514885, 57514963], [57522022, 57522178], [57523940, 57523982]]
ENST00000556376	[[57514163, 57514963], [57522022, 57522178], [57542664, 57542732], [57547420, 57547460]]	[[57514885, 57514963], [57522022, 57522166]]
ENST00000381260	[[57514163, 57514963], [57516848, 57516978], [57522022, 57522178], [57547818, 57547870]]	[[57514952, 57514963], [57516848, 57516978], [57522022, 57522166]]
ENST00000337881	[[57514163, 57514963], [57522022, 57522178], [57547420, 57548065]]	[[57514885, 57514963], [57522022, 57522166]]
ENST00000557328	[[57522024, 57522178], [57523940, 57524065], [57547420, 57547872]]	[[57522024, 57522178], [57523940, 57523982]]
ENST00000605395	[[57525317, 57525704], [57538820, 57538967], [57547420, 57547463]]	None
ENST00000508121	[[57514161, 57514963], [57522022, 57522178], [57523940, 57524072]]	[[57514885, 57514963], [57522022, 57522178], [57523940, 57523982]]
ENST00000503639	[[57514163, 57514963], [57522022, 57522470]]	[[57514885, 57514963], [57522022, 57522166]]
ENST00000553379	[[57514163, 57514963], [57522022, 57522178], [57522608, 57522653]]	[[57514885, 57514963], [57522022, 57522166]]
ENST00000381255	[[57514163, 57514963], [57522022, 57522178], [57522465, 57522673]]	[[57514885, 57514963], [57522022, 57522166]]
ENST00000317745	[[57514163, 57514963], [57522022, 57522178], [57522509, 57522682]]	[[57514885, 57514963], [57522022, 57522166]]
ENST00000555760	[[57514163, 57514963], [57522022, 57522178], [57522505, 57522688]]	[[57514885, 57514963], [57522022, 57522166]]
ENST00000556614	[[57514163, 57514963], [57522022, 57522178], [57522509, 57522691]]	[[57514885, 57514963], [57522022, 57522166]]
ENST00000503864	[[57514165, 57517368]]	None
ENST00000506661	[[57544923, 57547463]]	None
NM_001145460	[[57514153, 57514963], [57516848, 57516978], [57522022, 57522178], [57523940, 57524065], [57547420, 57547872]]	[[57514952, 57514963], [57516848, 57516978], [57522022, 57522178], [57523940, 57523982]]
NM_032495	[[57514153, 57514963], [57522022, 57522178], [57523940, 57524065], [57547420, 57547872]]	[[57514885, 57514963], [57522022, 57522178], [57523940, 57523982]]
NM_139212	[[57514153, 57514963], [57522022, 57522178], [57547420, 57547872]]	[[57514885, 57514963], [57522022, 57522166]]
NM_001145459	[[57514153, 57514963], [57522022, 57522178], [57522465, 57522688]]	[[57514885, 57514963], [57522022, 57522166]]
NM_139211	[[57514153, 57514963], [57522022, 57522178], [57522509, 57522688]]	[[57514885, 57514963], [57522022, 57522166]]

Promoter

Chrom	Start	End	Description
chr4	57522166	57522260	CAGE_peak_2_at_HOPX_5end
chr4	57522391	57522402	CAGE_peak_15_at_HOPX_5end
chr4	57522476	57522500	CAGE_peak_7_at_HOPX_5end
chr4	57522513	57522548	CAGE_peak_4_at_HOPX_5end
chr4	57522580	57522589	CAGE_peak_13_at_HOPX_5end
chr4	57522598	57522664	CAGE_peak_3_at_HOPX_5end
chr4	57522674	57522699	CAGE_peak_5_at_HOPX_5end
chr4	57522701	57522712	CAGE_peak_10_at_HOPX_5end
chr4	57522753	57522760	CAGE_peak_18_at_HOPX_5end
chr4	57524061	57524074	CAGE_peak_17_at_HOPX_5end
chr4	57547265	57547278	CAGE_peak_9_at_HOPX_5end
chr4	57547360	57547371	CAGE_peak_20_at_HOPX_5end
chr4	57547454	57547469	CAGE_peak_1_at_HOPX_5end
chr4	57547751	57547764	CAGE_peak_6_at_HOPX_5end
chr4	57547773	57547780	CAGE_peak_12_at_HOPX_5end
chr4	57547820	57547829	CAGE_peak_8_at_HOPX_5end
chr4	57547870	57547873	CAGE_peak_11_at_HOPX_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I056728	56728600	56729001	0.84	[{'connected_gene': 'HOPX', 'score': 28.15}, {'connected_gene': 'ENSG00000251799', 'score': 10.46}, {'connected_gene': 'SPINK2', 'score': 10.45}, {'connected_gene': 'PIR42353', 'score': 0.37}, {'connected_gene': 'LOC285453', 'score': 0.29}]
chr4	GH04I056742	56742059	56745479	0.77	[{'connected_gene': 'HOPX', 'score': 11.47}, {'connected_gene': 'ENSG00000269921', 'score': 11.21}, {'connected_gene': 'ENSG00000251799', 'score': 10.98}, {'connected_gene': 'SPINK2', 'score': 10.97}, {'connected_gene': 'LOC285453', 'score': 0.37}, {'connected_gene': 'PIR42353', 'score': 0.29}]
chr4	GH04I056637	56636616	56636682	0.31	[{'connected_gene': 'HOPX', 'score': 11.37}, {'connected_gene': 'ENSG00000251799', 'score': 10.16}, {'connected_gene': 'SPINK2', 'score': 10.16}, {'connected_gene': 'GC04P056642', 'score': 0.44}, {'connected_gene': 'GLDCP1', 'score': 0.26}, {'connected_gene': 'THEGL', 'score': 0.14}]
chr4	GH04I056636	56636818	56638019	0.31	[{'connected_gene': 'HOPX', 'score': 11.38}, {'connected_gene': 'ENSG00000251799', 'score': 10.61}, {'connected_gene': 'SPINK2', 'score': 10.61}, {'connected_gene': 'GC04P056642', 'score': 0.44}, {'connected_gene': 'GLDCP1', 'score': 0.26}, {'connected_gene': 'THEGL', 'score': 0.14}]
chr4	GH04I056648	56648300	56650965	0.38	[{'connected_gene': 'HOPX', 'score': 24.14}, {'connected_gene': 'ENSG00000251799', 'score': 10.8}, {'connected_gene': 'SPINK2', 'score': 10.79}, {'connected_gene': 'LOC101928815', 'score': 0.77}, {'connected_gene': 'GC04P056642', 'score': 0.44}]
chr4	GH04I056612	56612726	56614254	0.2	[{'connected_gene': 'HOPX', 'score': 10.98}, {'connected_gene': 'GLDCP1', 'score': 0.34}, {'connected_gene': 'GC04P056642', 'score': 0.31}, {'connected_gene': 'THEGL', 'score': 0.18}]
chr4	GH04I056652	56652118	56657466	1.97	[{'connected_gene': 'HOPX', 'score': 576.01}, {'connected_gene': 'LOC101928815', 'score': 550.77}, {'connected_gene': 'AASDH', 'score': 18.21}, {'connected_gene': 'SRP72', 'score': 15.45}, {'connected_gene': 'CEP135', 'score': 13.64}, {'connected_gene': 'POLR2B', 'score': 12.59}, {'connected_gene': 'SPINK2', 'score': 10.9}, {'connected_gene': 'ENSG00000251799', 'score': 10.89}, {'connected_gene': 'ENSG00000280285', 'score': 0.39}]
chr4	GH04I056803	56803555	56803744	0.56	[{'connected_gene': 'SRP72', 'score': 10.29}, {'connected_gene': 'REST', 'score': 10.27}, {'connected_gene': 'HOPX', 'score': 9.77}, {'connected_gene': 'SPINK2', 'score': 6.97}, {'connected_gene': 'GC04P056807', 'score': 0.77}, {'connected_gene': 'LOC105377668', 'score': 0.44}]
chr4	GH04I056836	56836600	56837000	0.79	[{'connected_gene': 'SRP72', 'score': 10.46}, {'connected_gene': 'REST', 'score': 10.41}, {'connected_gene': 'HOPX', 'score': 10.36}, {'connected_gene': 'PAICS', 'score': 10.3}, {'connected_gene': 'PPAT', 'score': 10.3}, {'connected_gene': 'AASDH', 'score': 9.76}, {'connected_gene': 'SPINK2', 'score': 9.27}, {'connected_gene': 'GC04P056899', 'score': 0.21}]
chr4	GH04I056874	56874291	56874634	0.78	[{'connected_gene': 'REST', 'score': 13.45}, {'connected_gene': 'SPINK2', 'score': 11.35}, {'connected_gene': 'ENSG00000251799', 'score': 11.34}, {'connected_gene': 'NOA1', 'score': 10.57}, {'connected_gene': 'POLR2B', 'score': 10.57}, {'connected_gene': 'HOPX', 'score': 10.33}, {'connected_gene': 'ENSG00000269949', 'score': 4.86}, {'connected_gene': 'PPAT', 'score': 3.19}, {'connected_gene': 'GC04P056899', 'score': 0.34}]
chr4	GH04I056592	56592400	56592801	0.5	[{'connected_gene': 'GLDCP1', 'score': 550.77}, {'connected_gene': 'HOPX', 'score': 10.81}, {'connected_gene': 'ENSG00000251799', 'score': 10.03}, {'connected_gene': 'SPINK2', 'score': 10.03}, {'connected_gene': 'GC04P056642', 'score': 0.23}, {'connected_gene': 'THEGL', 'score': 0.21}]
chr4	GH04I056593	56592932	56593258	0.25	[{'connected_gene': 'GLDCP1', 'score': 550.77}, {'connected_gene': 'HOPX', 'score': 10.81}, {'connected_gene': 'ENSG00000251799', 'score': 10.03}, {'connected_gene': 'SPINK2', 'score': 10.03}, {'connected_gene': 'GC04P056642', 'score': 0.25}, {'connected_gene': 'THEGL', 'score': 0.21}]
chr4	GH04I056700	56700708	56701844	0.75	[{'connected_gene': 'AASDH', 'score': 16.5}, {'connected_gene': 'SRP72', 'score': 15.43}, {'connected_gene': 'CEP135', 'score': 11.61}, {'connected_gene': 'POLR2B', 'score': 10.48}, {'connected_gene': 'HOPX', 'score': 6.74}, {'connected_gene': 'LOC105377667', 'score': 0.77}, {'connected_gene': 'LOC105377666', 'score': 0.37}]
chr4	GH04I056540	56540801	56541000	0.38	[{'connected_gene': 'ARL9', 'score': 12.28}, {'connected_gene': 'SRP72', 'score': 12.19}, {'connected_gene': 'PAICS', 'score': 11.04}, {'connected_gene': 'PPAT', 'score': 11.04}, {'connected_gene': 'SPINK2', 'score': 10.4}, {'connected_gene': 'ENSG00000251799', 'score': 10.4}, {'connected_gene': 'HOPX', 'score': 10.25}, {'connected_gene': 'AASDH', 'score': 10.06}, {'connected_gene': 'THEGL', 'score': 0.39}, {'connected_gene': 'GLDCP1', 'score': 0.23}]
chr4	GH04I056680	56680920	56682599	1.36	[{'connected_gene': 'LOC105377666', 'score': 550.77}, {'connected_gene': 'HOPX', 'score': 550.77}, {'connected_gene': 'ENSG00000280285', 'score': 0.37}]
chr4	GH04I056640	56640735	56642736	0.72	[{'connected_gene': 'GC04P056642', 'score': 550.77}, {'connected_gene': 'HOPX', 'score': 22.2}, {'connected_gene': 'GLDCP1', 'score': 0.25}, {'connected_gene': 'THEGL', 'score': 0.14}]
chr4	GH04I056666	56666201	56666400	0.2	[{'connected_gene': 'ENSG00000280285', 'score': 550.77}, {'connected_gene': 'HOPX', 'score': 0.37}]
chr4	GH04I056786	56786612	56788237	0.77	[{'connected_gene': 'ENSG00000251799', 'score': 12.09}, {'connected_gene': 'SPINK2', 'score': 12.09}, {'connected_gene': 'HOPX', 'score': 11.31}, {'connected_gene': 'ENSG00000269949', 'score': 4.49}, {'connected_gene': 'RN7SL492P', 'score': 0.44}, {'connected_gene': 'GC04M056796', 'score': 0.44}, {'connected_gene': 'LOC285453', 'score': 0.31}]