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
ENST00000261226	[[94960899, 94965513], [94972169, 94972305], [94975397, 94976314], [95044128, 95044338]]	[[94965210, 94965513], [94972169, 94972305], [94975397, 94976314], [95044128, 95044206]]
ENST00000551457	[[94962344, 94965513], [94972169, 94972305], [94975397, 94976314], [95009698, 95009837]]	[[94965210, 94965513], [94972169, 94972305], [94975397, 94976299]]
ENST00000548918	[[94975902, 94976314], [95010125, 95010196]]	[[94975902, 94976299]]
ENST00000552239	[[95003564, 95003811], [95007610, 95007701], [95009698, 95009927]]	None
NM_020698	[[94960899, 94965513], [94972169, 94972305], [94975397, 94976314], [95044128, 95044338]]	[[94965210, 94965513], [94972169, 94972305], [94975397, 94976314], [95044128, 95044206]]
NM_001301036	[[94960899, 94965513], [94972169, 94972305], [94975397, 94976314], [95009698, 95009927]]	[[94965210, 94965513], [94972169, 94972305], [94975397, 94976299]]

Promoter

Chrom	Start	End	Description
chr12	95009762	95009782	CAGE_peak_3_at_TMCC3_5end
chr12	95009838	95009854	CAGE_peak_4_at_TMCC3_5end
chr12	95010093	95010112	CAGE_peak_7_at_TMCC3_5end
chr12	95010147	95010163	CAGE_peak_8_at_TMCC3_5end
chr12	95044247	95044267	CAGE_peak_5_at_TMCC3_5end
chr12	95044269	95044278	CAGE_peak_6_at_TMCC3_5end
chr12	95044286	95044308	CAGE_peak_2_at_TMCC3_5end
chr12	95044309	95044390	CAGE_peak_1_at_TMCC3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I094552	94552244	94553980	0.59	[{'connected_gene': 'TMCC3', 'score': 6.67}, {'connected_gene': 'SUCLG2P2', 'score': 0.77}, {'connected_gene': 'MIR5700', 'score': 0.44}]
chr12	GH12I094636	94636476	94637494	0.38	[{'connected_gene': 'TMCC3', 'score': 8.74}, {'connected_gene': 'LOC105369914', 'score': 0.39}, {'connected_gene': 'GC12P094593', 'score': 0.25}]
chr12	GH12I094648	94648463	94651134	2.21	[{'connected_gene': 'TMCC3', 'score': 573.63}, {'connected_gene': 'LOC105369914', 'score': 550.77}]
chr12	GH12I094603	94603565	94603714	0.57	[{'connected_gene': 'TMCC3', 'score': 11.75}, {'connected_gene': 'GC12P094593', 'score': 0.39}, {'connected_gene': 'LOC105369914', 'score': 0.26}]
chr12	GH12I094598	94598243	94599809	0.2	[{'connected_gene': 'TMCC3', 'score': 10.94}, {'connected_gene': 'GC12P094593', 'score': 0.44}, {'connected_gene': 'LOC105369914', 'score': 0.25}]
chr12	GH12I094594	94594601	94594800	0.2	[{'connected_gene': 'TMCC3', 'score': 10.93}, {'connected_gene': 'GC12P094593', 'score': 0.77}, {'connected_gene': 'LOC105369914', 'score': 0.23}]
chr12	GH12I094768	94768193	94770549	0.93	[{'connected_gene': 'TMCC3', 'score': 10.77}, {'connected_gene': 'PLXNC1', 'score': 9.44}, {'connected_gene': 'CEP83', 'score': 4.61}, {'connected_gene': 'GC12M094805', 'score': 0.25}, {'connected_gene': 'GC12M094666', 'score': 0.15}]
chr12	GH12I094302	94302346	94302675	0.23	[{'connected_gene': 'TMCC3', 'score': 19.34}, {'connected_gene': 'PLXNC1', 'score': 13.76}, {'connected_gene': 'PIR51798', 'score': 0.37}, {'connected_gene': 'GC12P094335', 'score': 0.29}, {'connected_gene': 'CEP83', 'score': 0.1}]
chr12	GH12I094380	94380069	94380391	0.45	[{'connected_gene': 'TMCC3', 'score': 4.2}, {'connected_gene': 'PLXNC1', 'score': 3.24}, {'connected_gene': 'RN7SL330P', 'score': 0.37}, {'connected_gene': 'RBMS2P1', 'score': 0.26}, {'connected_gene': 'CEP83', 'score': 0.18}]
chr12	GH12I094643	94643201	94645444	1.38	[{'connected_gene': 'TMCC3', 'score': 46.31}, {'connected_gene': 'PLXNC1', 'score': 37.94}, {'connected_gene': 'LOC105369914', 'score': 0.77}, {'connected_gene': 'GC12P094593', 'score': 0.23}]
chr12	GH12I094614	94614064	94624036	2.17	[{'connected_gene': 'TMCC3', 'score': 565.68}, {'connected_gene': 'PLXNC1', 'score': 2.77}, {'connected_gene': 'LOC105369914', 'score': 0.31}, {'connected_gene': 'GC12P094593', 'score': 0.31}]
chr12	GH12I094639	94639989	94641552	1.28	[{'connected_gene': 'TMCC3', 'score': 14.12}, {'connected_gene': 'PLXNC1', 'score': 8.98}, {'connected_gene': 'LOC105369914', 'score': 0.44}, {'connected_gene': 'GC12P094593', 'score': 0.25}]
chr12	GH12I094760	94760973	94763207	1.13	[{'connected_gene': 'TMCC3', 'score': 10.78}, {'connected_gene': 'PLXNC1', 'score': 9.44}, {'connected_gene': 'GC12M094805', 'score': 0.23}, {'connected_gene': 'GC12M094666', 'score': 0.16}]
chr12	GH12I094564	94564911	94565914	0.31	[{'connected_gene': 'TMCC3', 'score': 16.6}, {'connected_gene': 'MIR5700', 'score': 0.77}, {'connected_gene': 'MIR7844', 'score': 0.44}]
chr12	GH12I094584	94584441	94585437	0.2	[{'connected_gene': 'TMCC3', 'score': 11.04}, {'connected_gene': 'LSM3P2', 'score': 0.44}, {'connected_gene': 'MIR7844', 'score': 0.39}]
chr12	GH12I094586	94586277	94588760	0.83	[{'connected_gene': 'TMCC3', 'score': 6.31}, {'connected_gene': 'LSM3P2', 'score': 0.77}, {'connected_gene': 'MIR7844', 'score': 0.37}]
chr12	GH12I094721	94721267	94721476	0.87	[{'connected_gene': 'TMCC3', 'score': 11.63}, {'connected_gene': 'GC12M094666', 'score': 0.23}, {'connected_gene': 'GC12M094805', 'score': 0.16}]
chr12	GH12I094679	94679221	94680427	0.31	[{'connected_gene': 'TMCC3', 'score': 16.94}, {'connected_gene': 'GC12M094666', 'score': 0.39}, {'connected_gene': 'GC12M094805', 'score': 0.12}]
chr12	GH12I094674	94674801	94678509	1.29	[{'connected_gene': 'TMCC3', 'score': 30.81}, {'connected_gene': 'GC12M094666', 'score': 0.44}, {'connected_gene': 'GC12M094805', 'score': 0.12}]
chr12	GH12I094871	94871705	94874409	1.18	[{'connected_gene': 'TMCC3', 'score': 4.47}, {'connected_gene': 'GC12P094890', 'score': 0.37}, {'connected_gene': 'GC12P094845', 'score': 0.28}, {'connected_gene': 'GC12M094870', 'score': 0.28}]
chr12	GH12I094680	94679041	94679176	0.2	[{'connected_gene': 'TMCC3', 'score': 11.75}, {'connected_gene': 'GC12M094666', 'score': 0.39}, {'connected_gene': 'GC12M094805', 'score': 0.12}]
chr12	GH12I094673	94673105	94674248	0.31	[{'connected_gene': 'TMCC3', 'score': 12.47}, {'connected_gene': 'GC12M094666', 'score': 0.44}, {'connected_gene': 'GC12M094805', 'score': 0.11}]
chr12	GH12I094712	94712773	94715324	0.85	[{'connected_gene': 'TMCC3', 'score': 11.41}, {'connected_gene': 'GC12M094666', 'score': 0.25}, {'connected_gene': 'GC12M094805', 'score': 0.15}]
chr12	GH12I094704	94704187	94709161	1.25	[{'connected_gene': 'TMCC3', 'score': 11.64}, {'connected_gene': 'GC12M094666', 'score': 0.28}, {'connected_gene': 'GC12M094805', 'score': 0.14}]
chr12	GH12I094725	94725800	94726001	0.52	[{'connected_gene': 'TMCC3', 'score': 11.14}, {'connected_gene': 'GC12M094666', 'score': 0.22}, {'connected_gene': 'GC12M094805', 'score': 0.16}]
chr12	GH12I094688	94688802	94691081	1.15	[{'connected_gene': 'TMCC3', 'score': 12.11}, {'connected_gene': 'GC12M094666', 'score': 0.34}, {'connected_gene': 'GC12M094805', 'score': 0.13}]
chr12	GH12I094655	94655757	94657064	0.52	[{'connected_gene': 'TMCC3', 'score': 0.44}, {'connected_gene': 'GC12M094666', 'score': 0.39}]
chr12	GH12I094662	94662539	94664083	0.43	[{'connected_gene': 'TMCC3', 'score': 8.64}, {'connected_gene': 'GC12M094666', 'score': 0.77}]
chr12	GH12I094972	94972536	94974207	0.31	[{'connected_gene': 'NDUFA12', 'score': 19.48}, {'connected_gene': 'FGD6', 'score': 14.47}, {'connected_gene': 'KRT19P2', 'score': 10.04}, {'connected_gene': 'MIR492', 'score': 10.04}, {'connected_gene': 'TMCC3', 'score': 10.0}, {'connected_gene': 'ENSG00000258365', 'score': 4.76}, {'connected_gene': 'GC12M094957', 'score': 0.77}, {'connected_gene': 'LOC105369915', 'score': 0.25}]
chr12	GH12I094763	94763825	94764516	0.65	[{'connected_gene': 'VEZT', 'score': 14.82}, {'connected_gene': 'METAP2', 'score': 14.23}, {'connected_gene': 'TMCC3', 'score': 10.78}, {'connected_gene': 'PLXNC1', 'score': 9.44}, {'connected_gene': 'GC12M094805', 'score': 0.23}, {'connected_gene': 'GC12M094666', 'score': 0.15}]
chr12	GH12I094517	94517125	94517274	0.43	[{'connected_gene': 'RN7SL483P', 'score': 550.77}, {'connected_gene': 'TMCC3', 'score': 10.16}, {'connected_gene': 'GC12M094521', 'score': 0.77}, {'connected_gene': 'LOC102724960', 'score': 0.26}]
chr12	GH12I094634	94634513	94635626	0.2	[{'connected_gene': 'LOC105369914', 'score': 0.39}, {'connected_gene': 'TMCC3', 'score': 0.37}, {'connected_gene': 'GC12P094593', 'score': 0.26}]
chr12	GH12I094569	94569879	94572218	0.83	[{'connected_gene': 'MIR7844', 'score': 550.77}, {'connected_gene': 'TMCC3', 'score': 19.33}, {'connected_gene': 'MIR5700', 'score': 0.44}]
chr12	GH12I094147	94147605	94153478	2.46	[{'connected_gene': 'PLXNC1', 'score': 583.69}, {'connected_gene': 'GC12P094149', 'score': 550.77}, {'connected_gene': 'TMCC3', 'score': 34.77}, {'connected_gene': 'NR2C1', 'score': 11.05}, {'connected_gene': 'ENSG00000258365', 'score': 10.55}, {'connected_gene': 'ENSG00000271382', 'score': 10.36}, {'connected_gene': 'CRADD', 'score': 1.2}, {'connected_gene': 'ENSG00000258035', 'score': 0.28}]
chr12	GH12I094260	94260525	94268506	2.04	[{'connected_gene': 'PLXNC1', 'score': 34.61}, {'connected_gene': 'TMCC3', 'score': 19.19}, {'connected_gene': 'ENSG00000258172', 'score': 8.07}, {'connected_gene': 'ENSG00000258365', 'score': 7.23}, {'connected_gene': 'ENSG00000257252', 'score': 4.87}, {'connected_gene': 'ENSG00000258035', 'score': 0.18}, {'connected_gene': 'CEP83', 'score': 0.08}]
chr12	GH12I094180	94180391	94181373	0.7	[{'connected_gene': 'PLXNC1', 'score': 36.06}, {'connected_gene': 'TMCC3', 'score': 23.23}, {'connected_gene': 'ENSG00000258035', 'score': 0.44}, {'connected_gene': 'GC12P094149', 'score': 0.29}]
chr12	GH12I094171	94171547	94176611	1.7	[{'connected_gene': 'PLXNC1', 'score': 50.23}, {'connected_gene': 'TMCC3', 'score': 33.28}, {'connected_gene': 'ENSG00000258035', 'score': 0.39}, {'connected_gene': 'GC12P094149', 'score': 0.31}]
chr12	GH12I094244	94244190	94246840	1.24	[{'connected_gene': 'PLXNC1', 'score': 30.62}, {'connected_gene': 'TMCC3', 'score': 25.67}, {'connected_gene': 'ENSG00000258172', 'score': 0.29}, {'connected_gene': 'ENSG00000258035', 'score': 0.22}]
chr12	GH12I094203	94203627	94210287	1.62	[{'connected_gene': 'PLXNC1', 'score': 23.84}, {'connected_gene': 'TMCC3', 'score': 6.19}, {'connected_gene': 'ENSG00000258035', 'score': 0.34}, {'connected_gene': 'ENSG00000258172', 'score': 0.19}]
chr12	GH12I094560	94560320	94564109	1.35	[{'connected_gene': 'MIR5700', 'score': 550.77}, {'connected_gene': 'TMCC3', 'score': 6.8}, {'connected_gene': 'MIR7844', 'score': 0.44}]
chr12	GH12I094591	94591520	94592656	0.31	[{'connected_gene': 'LSM3P2', 'score': 550.77}, {'connected_gene': 'GC12P094593', 'score': 550.77}, {'connected_gene': 'TMCC3', 'score': 17.19}, {'connected_gene': 'LOC105369914', 'score': 0.22}]
chr12	GH12I094590	94590402	94590800	0.86	[{'connected_gene': 'LSM3P2', 'score': 550.77}, {'connected_gene': 'GC12P094593', 'score': 550.77}, {'connected_gene': 'TMCC3', 'score': 11.09}, {'connected_gene': 'MIR7844', 'score': 0.37}]
chr12	GH12I094589	94589148	94590223	0.31	[{'connected_gene': 'LSM3P2', 'score': 550.77}, {'connected_gene': 'GC12P094593', 'score': 550.77}, {'connected_gene': 'TMCC3', 'score': 6.27}, {'connected_gene': 'MIR7844', 'score': 0.37}]
chr12	GH12I094585	94585805	94585934	0.56	[{'connected_gene': 'LSM3P2', 'score': 0.77}, {'connected_gene': 'MIR7844', 'score': 0.39}, {'connected_gene': 'TMCC3', 'score': 0.21}]
chr12	GH12I094284	94284470	94284532	0.34	[{'connected_gene': 'PIR51798', 'score': 550.77}, {'connected_gene': 'ENSG00000258365', 'score': 550.77}, {'connected_gene': 'TMCC3', 'score': 7.0}, {'connected_gene': 'PLXNC1', 'score': 5.45}, {'connected_gene': 'CEP83', 'score': 0.1}]
chr12	GH12I094186	94186878	94188234	0.82	[{'connected_gene': 'ENSG00000258035', 'score': 550.77}, {'connected_gene': 'TMCC3', 'score': 19.56}, {'connected_gene': 'PLXNC1', 'score': 13.31}, {'connected_gene': 'ENSG00000258172', 'score': 0.17}]
chr12	GH12I094660	94660053	94661114	0.2	[{'connected_gene': 'GC12M094666', 'score': 0.44}, {'connected_gene': 'TMCC3', 'score': 0.39}]
chr12	GH12I094609	94609414	94610881	0.38	[{'connected_gene': 'GC12P094593', 'score': 0.37}, {'connected_gene': 'LOC105369914', 'score': 0.28}, {'connected_gene': 'TMCC3', 'score': 0.26}]