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
ENST00000284637	[[170015406, 170017838], [170027997, 170028356], [170037419, 170037781], [170038673, 170038933], [170041969, 170042140], [170043250, 170043417], [170051196, 170051307], [170057468, 170057771], [170076630, 170076726], [170077554, 170077830], [170189970, 170190458], [170192009, 170192256]]	[[170017669, 170017838], [170027997, 170028356], [170037419, 170037781], [170038673, 170038933], [170041969, 170042140], [170043250, 170043417], [170051196, 170051307], [170057468, 170057771], [170076630, 170076726], [170077554, 170077830], [170189970, 170190363]]
ENST00000508685	[[170037419, 170037781], [170038673, 170038933], [170041969, 170042140], [170043250, 170043417], [170051196, 170051307], [170057468, 170057771], [170076630, 170076726], [170077554, 170077830], [170189970, 170190244]]	None
ENST00000511421	[[170037419, 170037781], [170038673, 170038933], [170041969, 170042140], [170043250, 170043350], [170051196, 170051307], [170057468, 170057771], [170076630, 170076726], [170077554, 170077808]]	[[170042093, 170042140], [170043250, 170043350], [170051196, 170051307], [170057468, 170057771], [170076630, 170076726], [170077554, 170077808]]
ENST00000502315	[[170190064, 170190458], [170191907, 170192000]]	[[170190064, 170190363]]
ENST00000510806	[[170190126, 170190458], [170190849, 170191108]]	[[170190126, 170190363]]
NM_020870	[[170015406, 170017838], [170027997, 170028356], [170037419, 170037781], [170038673, 170038933], [170041969, 170042140], [170043250, 170043417], [170051196, 170051307], [170057468, 170057771], [170076630, 170076726], [170077554, 170077830], [170189970, 170190458], [170192009, 170192249]]	[[170017669, 170017838], [170027997, 170028356], [170037419, 170037781], [170038673, 170038933], [170041969, 170042140], [170043250, 170043417], [170051196, 170051307], [170057468, 170057771], [170076630, 170076726], [170077554, 170077830], [170189970, 170190363]]

Promoter

Chrom	Start	End	Description
chr4	170190216	170190228	CAGE_peak_11_at_SH3RF1_5end
chr4	170192092	170192115	CAGE_peak_1_at_SH3RF1_5end
chr4	170192128	170192147	CAGE_peak_2_at_SH3RF1_5end
chr4	170192158	170192170	CAGE_peak_4_at_SH3RF1_5end
chr4	170192185	170192206	CAGE_peak_3_at_SH3RF1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I169179	169179504	169180625	0.99	[{'connected_gene': 'SH3RF1', 'score': 15.4}, {'connected_gene': 'ENSG00000251171', 'score': 12.7}, {'connected_gene': 'CBR4', 'score': 9.79}, {'connected_gene': 'ENSG00000251445', 'score': 9.79}, {'connected_gene': 'RNY4P17', 'score': 9.78}, {'connected_gene': 'GC04P169167', 'score': 0.39}]
chr4	GH04I169266	169266801	169272996	2.59	[{'connected_gene': 'SH3RF1', 'score': 561.45}, {'connected_gene': 'HPF1', 'score': 10.54}, {'connected_gene': 'ENSG00000251171', 'score': 0.2}]
chr4	GH04I169292	169292801	169294200	1.19	[{'connected_gene': 'SH3RF1', 'score': 11.46}, {'connected_gene': 'ENSG00000251171', 'score': 10.91}, {'connected_gene': 'NEK1', 'score': 5.8}, {'connected_gene': 'LOC105377529', 'score': 0.28}]
chr4	GH04I169362	169362910	169364269	0.87	[{'connected_gene': 'SH3RF1', 'score': 8.37}, {'connected_gene': 'NEK1', 'score': 4.38}, {'connected_gene': 'LOC105377529', 'score': 0.29}]
chr4	GH04I169333	169333830	169336065	0.73	[{'connected_gene': 'SH3RF1', 'score': 7.39}, {'connected_gene': 'NEK1', 'score': 5.77}, {'connected_gene': 'LOC105377529', 'score': 0.77}]
chr4	GH04I169336	169336849	169338686	0.31	[{'connected_gene': 'SH3RF1', 'score': 8.68}, {'connected_gene': 'NEK1', 'score': 4.24}, {'connected_gene': 'LOC105377529', 'score': 0.44}]
chr4	GH04I169304	169304972	169306377	0.2	[{'connected_gene': 'SH3RF1', 'score': 11.56}, {'connected_gene': 'ENSG00000251171', 'score': 10.87}, {'connected_gene': 'NEK1', 'score': 5.84}, {'connected_gene': 'LOC105377529', 'score': 0.31}]
chr4	GH04I169314	169314117	169316260	1.11	[{'connected_gene': 'SH3RF1', 'score': 9.86}, {'connected_gene': 'NEK1', 'score': 4.22}, {'connected_gene': 'LOC105377529', 'score': 0.37}]
chr4	GH04I169220	169220495	169227745	1.09	[{'connected_gene': 'SH3RF1', 'score': 15.51}, {'connected_gene': 'ENSG00000251171', 'score': 12.47}, {'connected_gene': 'PALLD', 'score': 5.78}]
chr4	GH04I169341	169341105	169342755	0.69	[{'connected_gene': 'SH3RF1', 'score': 8.74}, {'connected_gene': 'LOC105377529', 'score': 0.39}, {'connected_gene': 'NEK1', 'score': 0.06}]
chr4	GH04I169345	169345068	169346169	0.79	[{'connected_gene': 'SH3RF1', 'score': 5.4}, {'connected_gene': 'LOC105377529', 'score': 0.39}, {'connected_gene': 'NEK1', 'score': 0.06}]
chr4	GH04I169287	169287968	169288326	0.26	[{'connected_gene': 'SH3RF1', 'score': 10.08}, {'connected_gene': 'LOC105377529', 'score': 0.26}]
chr4	GH04I169284	169284910	169285059	0.4	[{'connected_gene': 'SH3RF1', 'score': 0.39}, {'connected_gene': 'LOC105377529', 'score': 0.25}]
chr4	GH04I169282	169282390	169284085	0.92	[{'connected_gene': 'SH3RF1', 'score': 0.39}, {'connected_gene': 'LOC105377529', 'score': 0.25}]
chr4	GH04I169311	169311601	169312200	0.63	[{'connected_gene': 'SH3RF1', 'score': 4.51}, {'connected_gene': 'LOC105377529', 'score': 0.37}]
chr4	GH04I169098	169098083	169101692	1.23	[{'connected_gene': 'SH3RF1', 'score': 12.99}, {'connected_gene': 'ENSG00000251171', 'score': 10.02}, {'connected_gene': 'LOC105377527', 'score': 0.31}, {'connected_gene': 'RPL6P12', 'score': 0.2}]
chr4	GH04I169114	169114134	169118644	1.04	[{'connected_gene': 'SH3RF1', 'score': 14.15}, {'connected_gene': 'ENSG00000251171', 'score': 10.7}, {'connected_gene': 'LOC105377527', 'score': 0.26}, {'connected_gene': 'RPL6P12', 'score': 0.25}]
chr4	GH04I169119	169119315	169122881	0.38	[{'connected_gene': 'SH3RF1', 'score': 14.42}, {'connected_gene': 'ENSG00000251171', 'score': 11.34}, {'connected_gene': 'LOC105377527', 'score': 0.25}, {'connected_gene': 'RPL6P12', 'score': 0.25}]
chr4	GH04I169183	169183978	169186315	1.03	[{'connected_gene': 'SH3RF1', 'score': 15.4}, {'connected_gene': 'RNY4P17', 'score': 9.78}, {'connected_gene': 'CBR4', 'score': 9.78}, {'connected_gene': 'ENSG00000251445', 'score': 9.78}, {'connected_gene': 'ENSG00000251171', 'score': 0.37}, {'connected_gene': 'GC04P169167', 'score': 0.37}]
chr4	GH04I169129	169129993	169133364	0.43	[{'connected_gene': 'SH3RF1', 'score': 14.43}, {'connected_gene': 'ENSG00000251171', 'score': 10.73}, {'connected_gene': 'RPL6P12', 'score': 0.29}, {'connected_gene': 'LOC105377527', 'score': 0.22}]
chr4	GH04I169123	169123928	169126385	0.66	[{'connected_gene': 'SH3RF1', 'score': 14.01}, {'connected_gene': 'ENSG00000251171', 'score': 10.32}, {'connected_gene': 'RPL6P12', 'score': 0.26}, {'connected_gene': 'LOC105377527', 'score': 0.23}]
chr4	GH04I169133	169133620	169135036	0.76	[{'connected_gene': 'SH3RF1', 'score': 14.03}, {'connected_gene': 'ENSG00000251171', 'score': 10.77}, {'connected_gene': 'RPL6P12', 'score': 0.29}, {'connected_gene': 'LOC105377527', 'score': 0.21}]
chr4	GH04I169156	169156318	169161472	0.97	[{'connected_gene': 'SH3RF1', 'score': 11.72}, {'connected_gene': 'ENSG00000251171', 'score': 11.54}, {'connected_gene': 'RPL6P12', 'score': 0.44}, {'connected_gene': 'LOC105377527', 'score': 0.17}]
chr4	GH04I169167	169167715	169169425	0.65	[{'connected_gene': 'SH3RF1', 'score': 14.78}, {'connected_gene': 'ENSG00000251171', 'score': 12.21}, {'connected_gene': 'GC04P169167', 'score': 0.77}]
chr4	GH04I169233	169233428	169235598	0.51	[{'connected_gene': 'SH3RF1', 'score': 13.66}, {'connected_gene': 'ENSG00000251171', 'score': 0.29}]
chr4	GH04I169204	169204628	169206651	0.43	[{'connected_gene': 'SH3RF1', 'score': 15.34}, {'connected_gene': 'ENSG00000251171', 'score': 0.77}]
chr4	GH04I169218	169218758	169219829	0.31	[{'connected_gene': 'SH3RF1', 'score': 9.75}, {'connected_gene': 'ENSG00000251171', 'score': 0.37}]
chr4	GH04I169230	169230958	169232842	0.58	[{'connected_gene': 'SH3RF1', 'score': 15.71}, {'connected_gene': 'ENSG00000251171', 'score': 0.29}]
chr4	GH04I169210	169210458	169212007	0.99	[{'connected_gene': 'SH3RF1', 'score': 16.8}, {'connected_gene': 'ENSG00000251171', 'score': 0.44}]
chr4	GH04I169228	169228564	169230576	1.17	[{'connected_gene': 'SH3RF1', 'score': 15.63}, {'connected_gene': 'ENSG00000251171', 'score': 0.31}]
chr4	GH04I169212	169212190	169213545	0.2	[{'connected_gene': 'SH3RF1', 'score': 15.36}, {'connected_gene': 'ENSG00000251171', 'score': 0.39}]
chr4	GH04I169556	169556965	169557919	0.56	[{'connected_gene': 'NEK1', 'score': 8.51}, {'connected_gene': 'SH3RF1', 'score': 4.67}, {'connected_gene': 'LOC105377529', 'score': 0.07}]
chr4	GH04I169410	169410410	169411634	0.98	[{'connected_gene': 'NEK1', 'score': 8.51}, {'connected_gene': 'SH3RF1', 'score': 4.42}, {'connected_gene': 'LOC105377529', 'score': 0.18}]
chr4	GH04I169649	169649801	169650839	1.03	[{'connected_gene': 'NEK1', 'score': 12.23}, {'connected_gene': 'CLCN3', 'score': 12.23}, {'connected_gene': 'SH3RF1', 'score': 4.33}, {'connected_gene': 'GC04M169663', 'score': 0.34}]
chr4	GH04I169383	169383162	169385454	0.59	[{'connected_gene': 'CLCN3', 'score': 7.0}, {'connected_gene': 'SH3RF1', 'score': 4.54}, {'connected_gene': 'LOC105377529', 'score': 0.23}, {'connected_gene': 'NEK1', 'score': 0.07}]
chr4	GH04I169397	169397566	169399148	0.74	[{'connected_gene': 'ENSG00000251171', 'score': 11.04}, {'connected_gene': 'SH3RF1', 'score': 4.74}, {'connected_gene': 'LOC105377529', 'score': 0.2}, {'connected_gene': 'NEK1', 'score': 0.08}]
chr4	GH04I169278	169278536	169279575	0.49	[{'connected_gene': 'ENSG00000251171', 'score': 10.66}, {'connected_gene': 'SH3RF1', 'score': 0.44}, {'connected_gene': 'LOC105377529', 'score': 0.23}]
chr4	GH04I169307	169307218	169308243	0.46	[{'connected_gene': 'ENSG00000251171', 'score': 10.87}, {'connected_gene': 'SH3RF1', 'score': 7.05}, {'connected_gene': 'LOC105377529', 'score': 0.34}]
chr4	GH04I169103	169103530	169104411	0.91	[{'connected_gene': 'ENSG00000251171', 'score': 9.87}, {'connected_gene': 'SH3RF1', 'score': 5.13}, {'connected_gene': 'LOC105377527', 'score': 0.29}, {'connected_gene': 'RPL6P12', 'score': 0.21}]
chr4	GH04I169148	169148101	169150257	0.51	[{'connected_gene': 'ENSG00000251171', 'score': 11.1}, {'connected_gene': 'SH3RF1', 'score': 4.71}, {'connected_gene': 'RPL6P12', 'score': 0.37}, {'connected_gene': 'LOC105377527', 'score': 0.18}]
chr4	GH04I169246	169246351	169247845	0.74	[{'connected_gene': 'ENSG00000251171', 'score': 11.31}, {'connected_gene': 'SH3RF1', 'score': 0.34}]
chr4	GH04I169263	169263750	169265477	0.31	[{'connected_gene': 'ENSG00000251171', 'score': 11.51}, {'connected_gene': 'SH3RF1', 'score': 8.97}]
chr4	GH04I169260	169260401	169260600	0.4	[{'connected_gene': 'ENSG00000251171', 'score': 10.54}, {'connected_gene': 'SH3RF1', 'score': 0.39}]
chr4	GH04I169243	169243557	169244765	1.03	[{'connected_gene': 'ENSG00000251171', 'score': 11.82}, {'connected_gene': 'SH3RF1', 'score': 0.31}]
chr4	GH04I169200	169200489	169203160	1.03	[{'connected_gene': 'ENSG00000251171', 'score': 550.77}, {'connected_gene': 'SH3RF1', 'score': 15.44}]
chr4	GH04I169175	169175273	169175372	0.22	[{'connected_gene': 'ENSG00000251171', 'score': 12.67}, {'connected_gene': 'GC04P169167', 'score': 0.44}, {'connected_gene': 'SH3RF1', 'score': 0.15}]
chr4	GH04I169248	169248262	169257999	1.31	[{'connected_gene': 'ENSG00000251171', 'score': 11.3}, {'connected_gene': 'SH3RF1', 'score': 9.87}]
chr4	GH04I169208	169208600	169208801	0.4	[{'connected_gene': 'ENSG00000251171', 'score': 0.44}, {'connected_gene': 'SH3RF1', 'score': 0.21}]
chr4	GH04I169163	169163750	169165935	0.83	[{'connected_gene': 'GC04P169167', 'score': 550.77}, {'connected_gene': 'RPL6P12', 'score': 550.77}, {'connected_gene': 'ENSG00000251171', 'score': 12.19}, {'connected_gene': 'SH3RF1', 'score': 11.73}, {'connected_gene': 'LOC105377527', 'score': 0.16}]
chr4	GH04I169147	169147370	169147519	0.69	[{'connected_gene': 'ENSG00000251171', 'score': 10.97}, {'connected_gene': 'RPL6P12', 'score': 0.37}, {'connected_gene': 'LOC105377527', 'score': 0.18}, {'connected_gene': 'SH3RF1', 'score': 0.13}]
chr4	GH04I169151	169151810	169151959	0.63	[{'connected_gene': 'ENSG00000251171', 'score': 10.69}, {'connected_gene': 'RPL6P12', 'score': 0.39}, {'connected_gene': 'LOC105377527', 'score': 0.18}, {'connected_gene': 'SH3RF1', 'score': 0.13}]