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
ENST00000316316	[[119134604, 119137457], [119147309, 119147455], [119147944, 119148027], [119149089, 119149293], [119150210, 119150413], [119177533, 119177708], [119232814, 119232934], [119234459, 119234585], [119238725, 119238926], [119243169, 119243251], [119244975, 119245292], [119252584, 119252903], [119256055, 119256327]]	[[119135986, 119137457], [119147309, 119147455], [119147944, 119148027], [119149089, 119149293], [119150210, 119150413], [119177533, 119177708], [119232814, 119232934], [119234459, 119234585], [119238725, 119238926], [119243169, 119243251], [119244975, 119245292], [119252584, 119252888]]
ENST00000458674	[[119137343, 119137457], [119147309, 119147455], [119147944, 119148027], [119150210, 119150416]]	[[119137343, 119137457], [119147309, 119147455], [119147944, 119148027], [119150210, 119150416]]
ENST00000505485	[[119149176, 119149293], [119150210, 119150413], [119177533, 119177708], [119215190, 119215520]]	None
ENST00000368478	[[119150190, 119150413], [119215190, 119215436]]	None
ENST00000436788	[[119231761, 119234585], [119238725, 119243251], [119244975, 119245217]]	None
ENST00000316068	[[119231761, 119232934], [119234459, 119234585], [119238725, 119238926], [119243169, 119243251], [119244975, 119245292], [119252584, 119252903], [119256055, 119256279]]	[[119232788, 119232934], [119234459, 119234585], [119238725, 119238926], [119243169, 119243251], [119244975, 119245292], [119252584, 119252888]]
ENST00000425154	[[119245127, 119245292], [119252584, 119252903], [119253771, 119253905], [119256055, 119256189]]	[[119245127, 119245292], [119252584, 119252888]]
ENST00000505446	[[119252654, 119252903], [119253771, 119253905], [119255554, 119255641]]	[[119252654, 119252888]]
NM_017696	[[119134611, 119137457], [119147309, 119147455], [119147944, 119148027], [119149089, 119149293], [119150210, 119150413], [119177533, 119177708], [119232814, 119232934], [119234459, 119234585], [119238725, 119238926], [119243169, 119243251], [119244975, 119245292], [119252584, 119252903]]	[[119135986, 119137457], [119147309, 119147455], [119147944, 119148027], [119149089, 119149293], [119150210, 119150413], [119177533, 119177708], [119232814, 119232934], [119234459, 119234585], [119238725, 119238926], [119243169, 119243251], [119244975, 119245292], [119252584, 119252888]]
NM_153255	[[119231761, 119232934], [119234459, 119234585], [119238725, 119238926], [119243169, 119243251], [119244975, 119245292], [119252584, 119252903], [119256055, 119256327]]	[[119232788, 119232934], [119234459, 119234585], [119238725, 119238926], [119243169, 119243251], [119244975, 119245292], [119252584, 119252888]]

Promoter

Chrom	Start	End	Description
chr6	119256142	119256173	CAGE_peak_2_at_MCM9_5end
chr6	119256284	119256308	CAGE_peak_3_at_MCM9_5end
chr6	119256311	119256335	CAGE_peak_1_at_MCM9_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I119077	119077099	119079667	2.23	[{'connected_gene': 'FAM184A', 'score': 562.15}, {'connected_gene': 'MCM9', 'score': 10.53}, {'connected_gene': 'MIR548B', 'score': 0.44}]
chr6	GH06I119034	119034713	119036808	0.98	[{'connected_gene': 'FAM184A', 'score': 15.27}, {'connected_gene': 'MCM9', 'score': 7.48}, {'connected_gene': 'ENSG00000222649', 'score': 0.34}, {'connected_gene': 'GC06M118991', 'score': 0.26}]
chr6	GH06I118965	118965554	118966493	0.56	[{'connected_gene': 'MIR548B', 'score': 10.87}, {'connected_gene': 'ASF1A', 'score': 4.68}, {'connected_gene': 'GC06M118991', 'score': 0.31}, {'connected_gene': 'ENSG00000253194', 'score': 0.29}, {'connected_gene': 'MCM9', 'score': 0.29}, {'connected_gene': 'FAM184A', 'score': 0.09}]
chr6	GH06I119345	119345612	119351358	2.31	[{'connected_gene': 'MAN1A1', 'score': 555.82}, {'connected_gene': 'GC06P119350', 'score': 550.77}, {'connected_gene': 'PIR63066', 'score': 550.77}, {'connected_gene': 'MCM9', 'score': 10.45}, {'connected_gene': 'RPL13AP15', 'score': 5.04}]
chr6	GH06I119311	119311404	119316613	1.65	[{'connected_gene': 'MAN1A1', 'score': 17.88}, {'connected_gene': 'RPL13AP15', 'score': 5.23}, {'connected_gene': 'MCM9', 'score': 2.38}, {'connected_gene': 'RNU6-194P', 'score': 0.39}, {'connected_gene': 'GC06M119272', 'score': 0.26}]
chr6	GH06I118743	118743432	118746853	0.66	[{'connected_gene': 'CEP85L', 'score': 11.89}, {'connected_gene': 'MCM9', 'score': 4.61}, {'connected_gene': 'SELENOKP3', 'score': 0.39}]
chr6	GH06I118707	118707766	118711208	2.45	[{'connected_gene': 'CEP85L', 'score': 562.0}, {'connected_gene': 'MCM9', 'score': 24.98}, {'connected_gene': 'SSXP10', 'score': 0.13}]
chr6	GH06I118767	118767618	118769800	1.04	[{'connected_gene': 'CEP85L', 'score': 13.74}, {'connected_gene': 'SELENOKP3', 'score': 7.83}, {'connected_gene': 'FAM184A', 'score': 4.21}, {'connected_gene': 'MCM9', 'score': 2.43}, {'connected_gene': 'ASF1A', 'score': 0.13}]
chr6	GH06I118649	118649161	118652552	2.16	[{'connected_gene': 'CEP85L', 'score': 555.21}, {'connected_gene': 'SSXP10', 'score': 14.72}, {'connected_gene': 'MCM9', 'score': 10.46}]
chr6	GH06I118890	118890842	118897621	2.53	[{'connected_gene': 'ASF1A', 'score': 551.86}, {'connected_gene': 'MCM9', 'score': 27.06}, {'connected_gene': 'CEP85L', 'score': 13.32}, {'connected_gene': 'ENSG00000253194', 'score': 6.87}, {'connected_gene': 'FAM184A', 'score': 6.45}]
chr6	GH06I118800	118800029	118801322	1	[{'connected_gene': 'ASF1A', 'score': 11.08}, {'connected_gene': 'MCM9', 'score': 11.04}, {'connected_gene': 'CEP85L', 'score': 10.44}, {'connected_gene': 'SELENOKP3', 'score': 0.26}]
chr6	GH06I118899	118899770	118901239	0.52	[{'connected_gene': 'ASF1A', 'score': 0.44}, {'connected_gene': 'ENSG00000253194', 'score': 0.29}, {'connected_gene': 'MCM9', 'score': 0.29}]
chr6	GH06I118659	118659550	118660886	1.28	[{'connected_gene': 'ASF1A', 'score': 23.3}, {'connected_gene': 'SSXP10', 'score': 14.85}, {'connected_gene': 'MCM9', 'score': 10.48}, {'connected_gene': 'NUS1', 'score': 10.22}, {'connected_gene': 'CEP85L', 'score': 0.25}]
chr6	GH06I119037	119037211	119038527	0.81	[{'connected_gene': 'MCM9', 'score': 6.11}, {'connected_gene': 'ENSG00000222649', 'score': 0.34}, {'connected_gene': 'GC06M118991', 'score': 0.25}, {'connected_gene': 'FAM184A', 'score': 0.14}]
chr6	GH06I119237	119237236	119237689	0.88	[{'connected_gene': 'MCM9', 'score': 28.25}, {'connected_gene': 'LOC644303', 'score': 10.11}, {'connected_gene': 'RPL13AP15', 'score': 0.29}, {'connected_gene': 'GC06P119180', 'score': 0.22}, {'connected_gene': 'MAN1A1', 'score': 0.14}]
chr6	GH06I119307	119307556	119310170	1.46	[{'connected_gene': 'MCM9', 'score': 20.77}, {'connected_gene': 'MAN1A1', 'score': 11.3}, {'connected_gene': 'RPL13AP15', 'score': 5.25}, {'connected_gene': 'RNU6-194P', 'score': 0.37}, {'connected_gene': 'GC06M119272', 'score': 0.28}]
chr6	GH06I118807	118807932	118811148	1	[{'connected_gene': 'MCM9', 'score': 21.53}, {'connected_gene': 'CEP85L', 'score': 20.32}, {'connected_gene': 'ASF1A', 'score': 11.1}, {'connected_gene': 'FAM184A', 'score': 6.03}, {'connected_gene': 'SELENOKP3', 'score': 0.23}]
chr6	GH06I118643	118643712	118643962	0.22	[{'connected_gene': 'MCM9', 'score': 2.15}, {'connected_gene': 'CEP85L', 'score': 1.53}, {'connected_gene': 'SSXP10', 'score': 0.23}]
chr6	GH06I118864	118864312	118865698	0.4	[{'connected_gene': 'MCM9', 'score': 19.35}, {'connected_gene': 'ASF1A', 'score': 11.58}, {'connected_gene': 'CEP85L', 'score': 9.63}, {'connected_gene': 'SELENOKP3', 'score': 0.14}]
chr6	GH06I118875	118875788	118878193	0.63	[{'connected_gene': 'MCM9', 'score': 19.48}, {'connected_gene': 'ASF1A', 'score': 0.37}, {'connected_gene': 'SELENOKP3', 'score': 0.13}]
chr6	GH06I118844	118844918	118845067	0.52	[{'connected_gene': 'MCM9', 'score': 18.51}, {'connected_gene': 'ASF1A', 'score': 11.2}, {'connected_gene': 'SELENOKP3', 'score': 0.17}]
chr6	GH06I118830	118830182	118830319	0.25	[{'connected_gene': 'MCM9', 'score': 2.1}, {'connected_gene': 'ASF1A', 'score': 0.21}, {'connected_gene': 'SELENOKP3', 'score': 0.19}]
chr6	GH06I118897	118897823	118898201	0.35	[{'connected_gene': 'MCM9', 'score': 2.31}, {'connected_gene': 'ASF1A', 'score': 0.77}, {'connected_gene': 'ENSG00000253194', 'score': 0.28}]
chr6	GH06I118644	118644200	118644400	0.38	[{'connected_gene': 'MCM9', 'score': 10.41}, {'connected_gene': 'SSXP10', 'score': 0.22}, {'connected_gene': 'CEP85L', 'score': 0.2}]
chr6	GH06I118933	118933527	118936279	2.02	[{'connected_gene': 'MCM9', 'score': 573.72}, {'connected_gene': 'ENSG00000253194', 'score': 550.77}]
chr6	GH06I118813	118813800	118814001	0.31	[{'connected_gene': 'SELENOKP3', 'score': 0.22}, {'connected_gene': 'ASF1A', 'score': 0.18}, {'connected_gene': 'MCM9', 'score': 0.13}]
chr6	GH06I118759	118759201	118759400	0.2	[{'connected_gene': 'SELENOKP3', 'score': 550.77}, {'connected_gene': 'MCM9', 'score': 8.09}, {'connected_gene': 'ASF1A', 'score': 0.12}]
chr6	GH06I119626	119626807	119629386	1.37	[{'connected_gene': 'GC06P119628', 'score': 550.77}, {'connected_gene': 'MCM9', 'score': 12.05}, {'connected_gene': 'MAN1A1', 'score': 8.66}, {'connected_gene': 'LOC285762', 'score': 0.12}]