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
ENST00000258991	[[62224586, 62226451], [62228200, 62228321], [62230304, 62230514], [62232201, 62232327], [62238160, 62238293], [62248459, 62248559], [62254684, 62254831], [62265527, 62265796], [62270918, 62271249], [62272254, 62272455], [62289933, 62291602], [62340527, 62340587]]	[[62226328, 62226451], [62228200, 62228321], [62230304, 62230514], [62232201, 62232327], [62238160, 62238293], [62248459, 62248559], [62254684, 62254831], [62265527, 62265796], [62270918, 62271249], [62272254, 62272455], [62289933, 62291577]]
ENST00000583097	[[62225033, 62226451], [62228200, 62228321], [62230304, 62230514], [62232201, 62232327], [62238160, 62238293], [62248459, 62248559], [62254684, 62254831], [62265527, 62265775], [62270918, 62271249], [62272254, 62272455], [62289933, 62291602], [62307968, 62308116]]	[[62226328, 62226451], [62228200, 62228321], [62230304, 62230514], [62232201, 62232327], [62238160, 62238293], [62248459, 62248559], [62254684, 62254831], [62265527, 62265775], [62270918, 62271249], [62272254, 62272455], [62289933, 62291577]]
ENST00000584379	[[62225046, 62226451], [62228200, 62228321], [62230304, 62230514], [62232201, 62232327], [62238160, 62238293], [62248459, 62248559], [62254684, 62254831], [62265527, 62265775], [62270918, 62271249], [62272254, 62272455], [62289933, 62291602], [62340527, 62340661]]	[[62226328, 62226451], [62228200, 62228321], [62230304, 62230514], [62232201, 62232327], [62238160, 62238293], [62248459, 62248559], [62254684, 62254831], [62265527, 62265775], [62270918, 62271249], [62272254, 62272455], [62289933, 62291577]]
ENST00000583501	[[62226242, 62226451], [62228200, 62228321], [62230304, 62230514], [62232201, 62232321], [62238160, 62238293], [62248459, 62248559], [62254684, 62254831], [62265527, 62265775], [62270918, 62271249], [62272254, 62272455], [62289933, 62290079]]	[[62226328, 62226451], [62228200, 62228321], [62230304, 62230514], [62232201, 62232321], [62238160, 62238293], [62248459, 62248559], [62254684, 62254831], [62265527, 62265775], [62270918, 62271249], [62272254, 62272455], [62289933, 62290079]]
ENST00000577489	[[62232306, 62232327], [62248459, 62248559], [62254684, 62254831], [62265527, 62265814]]	None
ENST00000584498	[[62224800, 62228321], [62230304, 62230514], [62232201, 62233594]]	None
ENST00000581812	[[62228203, 62228321], [62230304, 62230514], [62232201, 62232327], [62232473, 62232580]]	None
ENST00000583922	[[62291420, 62291602], [62333070, 62333451]]	[[62291420, 62291577]]
ENST00000583738	[[62291449, 62291602], [62316516, 62316624], [62319620, 62319737], [62340527, 62340607]]	[[62291449, 62291577]]
NM_001288733	[[62224792, 62226451], [62228200, 62228321], [62230304, 62230514], [62232201, 62232327], [62238160, 62238293], [62248459, 62248559], [62254684, 62254831], [62265527, 62265775], [62270918, 62271249], [62272254, 62272455], [62289933, 62291602], [62307968, 62308116]]	[[62226328, 62226451], [62228200, 62228321], [62230304, 62230514], [62232201, 62232327], [62238160, 62238293], [62248459, 62248559], [62254684, 62254831], [62265527, 62265775], [62270918, 62271249], [62272254, 62272455], [62289933, 62291577]]
NM_018469	[[62224792, 62226451], [62228200, 62228321], [62230304, 62230514], [62232201, 62232327], [62238160, 62238293], [62248459, 62248559], [62254684, 62254831], [62265527, 62265796], [62270918, 62271249], [62272254, 62272455], [62289933, 62291602], [62340527, 62340683]]	[[62226328, 62226451], [62228200, 62228321], [62230304, 62230514], [62232201, 62232327], [62238160, 62238293], [62248459, 62248559], [62254684, 62254831], [62265527, 62265796], [62270918, 62271249], [62272254, 62272455], [62289933, 62291577]]
NM_001288732	[[62224792, 62226451], [62228200, 62228321], [62230304, 62230514], [62232201, 62232327], [62238160, 62238293], [62248459, 62248559], [62254684, 62254831], [62265527, 62265775], [62270918, 62271249], [62272254, 62272455], [62289933, 62291602], [62340527, 62340683]]	[[62226328, 62226451], [62228200, 62228321], [62230304, 62230514], [62232201, 62232327], [62238160, 62238293], [62248459, 62248559], [62254684, 62254831], [62265527, 62265775], [62270918, 62271249], [62272254, 62272455], [62289933, 62291577]]

Promoter

Chrom	Start	End	Description
chr17	62291090	62291115	CAGE_peak_4_at_TEX2_5end
chr17	62291143	62291156	CAGE_peak_2_at_TEX2_5end
chr17	62308087	62308098	CAGE_peak_20_at_TEX2_5end
chr17	62340563	62340579	CAGE_peak_3_at_TEX2_5end
chr17	62340581	62340671	CAGE_peak_1_at_TEX2_5end
chr17	62340720	62340728	CAGE_peak_11_at_TEX2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I064209	64209050	64210341	0.52	[{'connected_gene': 'SNORD104', 'score': 11.1}, {'connected_gene': 'TEX2', 'score': 8.35}, {'connected_gene': 'SNORA50C', 'score': 0.21}]
chr17	GH17I064282	64282002	64282800	0.97	[{'connected_gene': 'SNORD104', 'score': 11.63}, {'connected_gene': 'TEX2', 'score': 5.65}, {'connected_gene': 'RPL31P57', 'score': 0.31}]
chr17	GH17I064153	64152881	64153013	0.51	[{'connected_gene': 'SNORA50C', 'score': 0.44}, {'connected_gene': 'TEX2', 'score': 0.14}]
chr17	GH17I064160	64160481	64160630	0.51	[{'connected_gene': 'SNORA50C', 'score': 0.39}, {'connected_gene': 'TEX2', 'score': 0.15}]
chr17	GH17I064152	64152501	64152730	0.69	[{'connected_gene': 'SNORA50C', 'score': 0.44}, {'connected_gene': 'TEX2', 'score': 0.14}]
chr17	GH17I064302	64302341	64302510	0.71	[{'connected_gene': 'RPL31P57', 'score': 0.44}, {'connected_gene': 'TEX2', 'score': 0.28}]
chr17	GH17I064306	64306981	64307150	0.69	[{'connected_gene': 'RPL31P57', 'score': 550.77}, {'connected_gene': 'TEX2', 'score': 10.85}]
chr17	GH17I064184	64184753	64188315	1.3	[{'connected_gene': 'TEX2', 'score': 5.85}, {'connected_gene': 'PRR29', 'score': 4.47}, {'connected_gene': 'SNORA50C', 'score': 0.26}]
chr17	GH17I064229	64229747	64233013	1.89	[{'connected_gene': 'TEX2', 'score': 566.74}, {'connected_gene': 'CEP95', 'score': 15.37}, {'connected_gene': 'POLG2', 'score': 14.49}, {'connected_gene': 'SLC16A6P1', 'score': 13.06}, {'connected_gene': 'ENSG00000265982', 'score': 12.51}, {'connected_gene': 'DDX42', 'score': 11.71}, {'connected_gene': 'PLEKHM1P1', 'score': 10.66}, {'connected_gene': 'DDX5', 'score': 9.91}, {'connected_gene': 'FTSJ3', 'score': 9.84}, {'connected_gene': 'PRR29', 'score': 1.41}, {'connected_gene': 'SNORA50C', 'score': 0.17}]
chr17	GH17I064170	64170369	64171951	0.51	[{'connected_gene': 'TEX2', 'score': 17.16}, {'connected_gene': 'SNORD104', 'score': 12.32}, {'connected_gene': 'SNORA50C', 'score': 0.34}]
chr17	GH17I064172	64172681	64172830	0.66	[{'connected_gene': 'TEX2', 'score': 17.16}, {'connected_gene': 'SNORD104', 'score': 12.32}, {'connected_gene': 'SNORA50C', 'score': 0.31}]
chr17	GH17I064239	64239601	64242347	1.34	[{'connected_gene': 'TEX2', 'score': 19.21}, {'connected_gene': 'SNORA50C', 'score': 0.16}]
chr17	GH17I064149	64149929	64151545	1.15	[{'connected_gene': 'TEX2', 'score': 6.37}, {'connected_gene': 'SNORA50C', 'score': 0.77}]
chr17	GH17I064211	64211844	64213175	0.38	[{'connected_gene': 'TEX2', 'score': 19.01}, {'connected_gene': 'SNORA50C', 'score': 0.2}]
chr17	GH17I064249	64249387	64250456	0.2	[{'connected_gene': 'TEX2', 'score': 0.39}, {'connected_gene': 'SNORA50C', 'score': 0.15}]
chr17	GH17I064163	64163843	64166007	0.46	[{'connected_gene': 'TEX2', 'score': 6.73}, {'connected_gene': 'SNORA50C', 'score': 0.37}]
chr17	GH17I064199	64199702	64201424	1.02	[{'connected_gene': 'TEX2', 'score': 11.79}, {'connected_gene': 'SNORA50C', 'score': 0.23}]
chr17	GH17I064183	64183346	64184600	0.78	[{'connected_gene': 'TEX2', 'score': 5.94}, {'connected_gene': 'SNORA50C', 'score': 0.28}]
chr17	GH17I064243	64243215	64246217	0.97	[{'connected_gene': 'TEX2', 'score': 5.4}, {'connected_gene': 'SNORA50C', 'score': 0.15}]
chr17	GH17I064237	64237916	64237975	0.68	[{'connected_gene': 'TEX2', 'score': 568.04}, {'connected_gene': 'SNORA50C', 'score': 0.16}]
chr17	GH17I064154	64154013	64157379	1.29	[{'connected_gene': 'TEX2', 'score': 6.5}, {'connected_gene': 'SNORA50C', 'score': 0.44}]
chr17	GH17I064256	64256180	64257604	0.52	[{'connected_gene': 'TEX2', 'score': 5.43}, {'connected_gene': 'SNORA50C', 'score': 0.14}]
chr17	GH17I064196	64196409	64196979	0.58	[{'connected_gene': 'TEX2', 'score': 4.77}, {'connected_gene': 'SNORA50C', 'score': 0.23}]
chr17	GH17I064201	64201716	64203930	1.15	[{'connected_gene': 'TEX2', 'score': 18.8}, {'connected_gene': 'SNORA50C', 'score': 0.22}]
chr17	GH17I064157	64157701	64159842	0.74	[{'connected_gene': 'TEX2', 'score': 6.51}, {'connected_gene': 'SNORA50C', 'score': 0.39}]
chr17	GH17I064321	64320681	64321962	1.27	[{'connected_gene': 'TEX2', 'score': 4.56}, {'connected_gene': 'GC17M064322', 'score': 0.77}, {'connected_gene': 'RPL31P57', 'score': 0.39}, {'connected_gene': 'PECAM1', 'score': 0.16}]
chr17	GH17I064314	64314721	64316312	0.86	[{'connected_gene': 'TEX2', 'score': 5.42}, {'connected_gene': 'GC17M064322', 'score': 0.44}, {'connected_gene': 'RPL31P57', 'score': 0.44}]
chr17	GH17I064277	64277142	64279000	0.86	[{'connected_gene': 'TEX2', 'score': 6.63}, {'connected_gene': 'RPL31P57', 'score': 0.29}]
chr17	GH17I064270	64270102	64271400	0.72	[{'connected_gene': 'TEX2', 'score': 0.44}, {'connected_gene': 'RPL31P57', 'score': 0.28}]
chr17	GH17I064181	64181470	64181840	0.22	[{'connected_gene': 'TEX2', 'score': 5.19}, {'connected_gene': 'SCN4A', 'score': 1.67}, {'connected_gene': 'SNORA50C', 'score': 0.28}]
chr17	GH17I064173	64173402	64181399	1.64	[{'connected_gene': 'TEX2', 'score': 18.06}, {'connected_gene': 'ERN1', 'score': 14.44}, {'connected_gene': 'SNORD104', 'score': 12.3}, {'connected_gene': 'DDX5', 'score': 7.89}, {'connected_gene': 'ICAM2', 'score': 1.88}, {'connected_gene': 'LIMD2', 'score': 1.36}, {'connected_gene': 'SNORA50C', 'score': 0.29}]
chr17	GH17I064259	64259491	64265750	2.29	[{'connected_gene': 'TEX2', 'score': 557.42}, {'connected_gene': 'FTSJ3', 'score': 40.38}, {'connected_gene': 'POLG2', 'score': 40.19}, {'connected_gene': 'DDX42', 'score': 36.61}, {'connected_gene': 'SLC16A6P1', 'score': 35.28}, {'connected_gene': 'CEP95', 'score': 33.95}, {'connected_gene': 'SMARCD2', 'score': 30.39}, {'connected_gene': 'DDX5', 'score': 27.7}, {'connected_gene': 'ENSG00000265982', 'score': 26.99}, {'connected_gene': 'PLEKHM1P1', 'score': 26.1}, {'connected_gene': 'ENSG00000281311', 'score': 22.64}, {'connected_gene': 'AMZ2P1', 'score': 11.58}, {'connected_gene': 'ERN1', 'score': 11.44}, {'connected_gene': 'ICAM2', 'score': 4.9}, {'connected_gene': 'SNORA50C', 'score': 0.13}]
chr17	GH17I064213	64213504	64218860	1.43	[{'connected_gene': 'TEX2', 'score': 19.26}, {'connected_gene': 'POLG2', 'score': 16.69}, {'connected_gene': 'ENSG00000265982', 'score': 16.25}, {'connected_gene': 'SLC16A6P1', 'score': 14.92}, {'connected_gene': 'SMARCD2', 'score': 14.69}, {'connected_gene': 'CEP95', 'score': 14.21}, {'connected_gene': 'FTSJ3', 'score': 13.93}, {'connected_gene': 'PLEKHM1P1', 'score': 12.93}, {'connected_gene': 'DDX5', 'score': 12.53}, {'connected_gene': 'DDX42', 'score': 12.29}, {'connected_gene': 'CSHL1', 'score': 11.58}, {'connected_gene': 'GH1', 'score': 11.58}, {'connected_gene': 'KPNA2P3', 'score': 10.43}, {'connected_gene': 'ENSG00000281311', 'score': 10.41}, {'connected_gene': 'LOC101929240', 'score': 10.24}, {'connected_gene': 'SNORA50C', 'score': 0.2}]
chr17	GH17I064144	64144500	64149430	1.82	[{'connected_gene': 'ENSG00000281311', 'score': 582.18}, {'connected_gene': 'SNORA50C', 'score': 550.77}, {'connected_gene': 'SNORD104', 'score': 550.77}, {'connected_gene': 'GC17P064162', 'score': 550.77}, {'connected_gene': 'GC17P064163', 'score': 550.77}, {'connected_gene': 'FTSJ3', 'score': 74.82}, {'connected_gene': 'CEP95', 'score': 72.23}, {'connected_gene': 'POLG2', 'score': 69.42}, {'connected_gene': 'DDX5', 'score': 64.11}, {'connected_gene': 'SMARCD2', 'score': 62.49}, {'connected_gene': 'PLEKHM1P1', 'score': 61.61}, {'connected_gene': 'ENSG00000265982', 'score': 58.55}, {'connected_gene': 'SLC16A6P1', 'score': 53.89}, {'connected_gene': 'DDX42', 'score': 52.82}, {'connected_gene': 'ENSG00000265218', 'score': 16.86}, {'connected_gene': 'MAP3K3', 'score': 14.71}, {'connected_gene': 'EEF1DP7', 'score': 12.04}, {'connected_gene': 'ERN1', 'score': 11.69}, {'connected_gene': 'TEX2', 'score': 8.06}, {'connected_gene': 'SNHG25', 'score': 0.77}]