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
ENST00000337508	[[2934513, 2936465], [2936790, 2936843], [2937091, 2937213], [2937497, 2937580], [2939873, 2940026], [2943807, 2944190]]	[[2936372, 2936465], [2936790, 2936843], [2937091, 2937213], [2937497, 2937580], [2939873, 2940026], [2943807, 2944149]]
ENST00000542990	[[2937115, 2937213], [2937497, 2937580], [2939873, 2940026], [2943807, 2944007], [2944653, 2944710]]	[[2937115, 2937213], [2937497, 2937580], [2939873, 2940026], [2943807, 2943999]]
ENST00000542386	[[2937511, 2937580], [2939873, 2940026], [2943807, 2944114], [2944653, 2944702]]	[[2937511, 2937580], [2939873, 2940026], [2943807, 2943999]]
NM_031474	[[2934513, 2936465], [2936790, 2936843], [2937091, 2937213], [2937497, 2937580], [2939873, 2940026], [2943807, 2944221]]	[[2936372, 2936465], [2936790, 2936843], [2937091, 2937213], [2937497, 2937580], [2939873, 2940026], [2943807, 2944149]]

Promoter

Chrom	Start	End	Description
chr12	2944087	2944122	CAGE_peak_4_at_NRIP2_5end
chr12	2944169	2944182	CAGE_peak_3_at_NRIP2_5end
chr12	2944184	2944209	CAGE_peak_1_at_NRIP2_5end
chr12	2944396	2944456	CAGE_peak_2_at_NRIP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I002902	2902330	2902471	0.68	[{'connected_gene': 'NRIP2', 'score': 4.98}, {'connected_gene': 'PIR60635', 'score': 0.39}, {'connected_gene': 'TULP3', 'score': 0.31}, {'connected_gene': 'GC12M002940', 'score': 0.28}]
chr12	GH12I002784	2784001	2784270	1.13	[{'connected_gene': 'NRIP2', 'score': 17.7}, {'connected_gene': 'ITFG2', 'score': 11.22}, {'connected_gene': 'RPL23AP14', 'score': 0.77}, {'connected_gene': 'GC12M002790', 'score': 0.44}, {'connected_gene': 'ENSG00000256150', 'score': 0.31}]
chr12	GH12I002779	2779535	2779684	0.43	[{'connected_gene': 'NRIP2', 'score': 11.38}, {'connected_gene': 'ITFG2', 'score': 11.2}, {'connected_gene': 'ENSG00000255669', 'score': 0.77}, {'connected_gene': 'RPL23AP14', 'score': 0.77}, {'connected_gene': 'ENSG00000256150', 'score': 0.29}]
chr12	GH12I002980	2980889	2983744	0.66	[{'connected_gene': 'NRIP2', 'score': 10.46}, {'connected_gene': 'FOXM1', 'score': 10.07}, {'connected_gene': 'RHNO1', 'score': 10.07}, {'connected_gene': 'TULP3', 'score': 10.07}, {'connected_gene': 'ITFG2', 'score': 10.03}, {'connected_gene': 'ENSG00000250899', 'score': 7.41}, {'connected_gene': 'TEAD4', 'score': 6.99}, {'connected_gene': 'GC12P002971', 'score': 0.39}, {'connected_gene': 'GC12M003040', 'score': 0.22}]
chr12	GH12I002979	2979562	2980363	0.2	[{'connected_gene': 'NRIP2', 'score': 10.46}, {'connected_gene': 'FOXM1', 'score': 9.75}, {'connected_gene': 'RHNO1', 'score': 9.75}, {'connected_gene': 'TULP3', 'score': 9.75}, {'connected_gene': 'ITFG2', 'score': 9.17}, {'connected_gene': 'TEAD4', 'score': 6.78}, {'connected_gene': 'ENSG00000250899', 'score': 6.67}, {'connected_gene': 'GC12P002971', 'score': 0.39}, {'connected_gene': 'GC12M003040', 'score': 0.21}]
chr12	GH12I002844	2844719	2846955	0.91	[{'connected_gene': 'NRIP2', 'score': 6.29}, {'connected_gene': 'GC12P002844', 'score': 0.77}, {'connected_gene': 'TEX52', 'score': 0.39}, {'connected_gene': 'ITFG2', 'score': 0.29}]
chr12	GH12I002833	2833899	2835604	1.3	[{'connected_gene': 'NRIP2', 'score': 550.77}, {'connected_gene': 'LINC00940', 'score': 5.6}, {'connected_gene': 'ENSG00000256150', 'score': 0.34}, {'connected_gene': 'ITFG2', 'score': 0.34}]
chr12	GH12I003065	3065161	3066492	0.43	[{'connected_gene': 'NRIP2', 'score': 10.35}, {'connected_gene': 'RPL13AP24', 'score': 0.44}, {'connected_gene': 'PIR51354', 'score': 0.34}]
chr12	GH12I002895	2895135	2895284	0.2	[{'connected_gene': 'TULP3', 'score': 38.57}, {'connected_gene': 'NRIP2', 'score': 11.93}, {'connected_gene': 'ITFG2', 'score': 10.35}, {'connected_gene': 'PIR60635', 'score': 0.44}, {'connected_gene': 'GC12M002940', 'score': 0.25}]
chr12	GH12I002889	2889587	2893744	2.25	[{'connected_gene': 'TULP3', 'score': 588.96}, {'connected_gene': 'RHNO1', 'score': 23.55}, {'connected_gene': 'NRIP2', 'score': 11.93}, {'connected_gene': 'ITFG2', 'score': 10.77}, {'connected_gene': 'DCP1B', 'score': 10.73}, {'connected_gene': 'PIR60635', 'score': 0.77}, {'connected_gene': 'GC12M002940', 'score': 0.25}]
chr12	GH12I002876	2876014	2879331	2.03	[{'connected_gene': 'TULP3', 'score': 591.91}, {'connected_gene': 'RHNO1', 'score': 574.57}, {'connected_gene': 'FOXM1', 'score': 550.77}, {'connected_gene': 'ITFG2', 'score': 64.04}, {'connected_gene': 'DCP1B', 'score': 29.18}, {'connected_gene': 'CBX3P4', 'score': 28.2}, {'connected_gene': 'ITFG2-AS1', 'score': 13.03}, {'connected_gene': 'NRIP2', 'score': 10.72}, {'connected_gene': 'RPS27P3', 'score': 10.71}, {'connected_gene': 'IQSEC3P1', 'score': 10.6}, {'connected_gene': 'FKBP4', 'score': 10.03}, {'connected_gene': 'GC12M002869', 'score': 0.77}]
chr12	GH12I003001	3001961	3005372	0.69	[{'connected_gene': 'TEAD4', 'score': 11.53}, {'connected_gene': 'RNU6-1315P', 'score': 11.51}, {'connected_gene': 'NRIP2', 'score': 10.8}, {'connected_gene': 'ITFG2', 'score': 10.62}, {'connected_gene': 'GC12P002971', 'score': 0.29}, {'connected_gene': 'GC12M003040', 'score': 0.28}]
chr12	GH12I002990	2990299	2993855	0.31	[{'connected_gene': 'TEAD4', 'score': 12.02}, {'connected_gene': 'RNU6-1315P', 'score': 12.0}, {'connected_gene': 'NRIP2', 'score': 10.95}, {'connected_gene': 'TSPAN9', 'score': 10.41}, {'connected_gene': 'TULP3', 'score': 10.04}, {'connected_gene': 'FOXM1', 'score': 10.04}, {'connected_gene': 'RHNO1', 'score': 10.03}, {'connected_gene': 'ITFG2', 'score': 9.72}, {'connected_gene': 'GC12P002971', 'score': 0.34}, {'connected_gene': 'GC12M003040', 'score': 0.25}]
chr12	GH12I003230	3230324	3232315	0.86	[{'connected_gene': 'RPS27P3', 'score': 6.12}, {'connected_gene': 'NRIP2', 'score': 1.46}, {'connected_gene': 'GC12P003266', 'score': 0.29}, {'connected_gene': 'PIR53152', 'score': 0.29}, {'connected_gene': 'TSPAN9', 'score': 0.1}]
chr12	GH12I002824	2824695	2827253	0.38	[{'connected_gene': 'FKBP4', 'score': 11.45}, {'connected_gene': 'CBX3P4', 'score': 11.21}, {'connected_gene': 'FOXM1', 'score': 10.79}, {'connected_gene': 'RHNO1', 'score': 10.79}, {'connected_gene': 'TULP3', 'score': 10.79}, {'connected_gene': 'NRIP2', 'score': 6.37}, {'connected_gene': 'ENSG00000256150', 'score': 0.39}, {'connected_gene': 'ITFG2', 'score': 0.39}]
chr12	GH12I002256	2255908	2257488	1.11	[{'connected_gene': 'ITFG2', 'score': 147.55}, {'connected_gene': 'TULP3', 'score': 136.64}, {'connected_gene': 'DCP1B', 'score': 84.73}, {'connected_gene': 'CBX3P4', 'score': 72.41}, {'connected_gene': 'IQSEC3P1', 'score': 28.9}, {'connected_gene': 'RPS27P3', 'score': 19.52}, {'connected_gene': 'ITFG2-AS1', 'score': 12.92}, {'connected_gene': 'CACNA1C-AS4', 'score': 11.91}, {'connected_gene': 'NRIP2', 'score': 9.86}, {'connected_gene': 'LINC00942', 'score': 9.75}, {'connected_gene': 'CACNA1C-IT3', 'score': 7.18}, {'connected_gene': 'PIR46918', 'score': 0.77}, {'connected_gene': 'CACNA1C', 'score': 0.06}]
chr12	GH12I002811	2811661	2814613	2.12	[{'connected_gene': 'ITFG2', 'score': 573.35}, {'connected_gene': 'ENSG00000256150', 'score': 550.77}, {'connected_gene': 'DCP1B', 'score': 30.78}, {'connected_gene': 'TULP3', 'score': 24.74}, {'connected_gene': 'NRIP2', 'score': 14.88}, {'connected_gene': 'CBX3P4', 'score': 11.75}, {'connected_gene': 'IQSEC3P1', 'score': 10.95}]
chr12	GH12I002003	2003213	2005301	2.29	[{'connected_gene': 'DCP1B', 'score': 565.2}, {'connected_gene': 'ENSG00000203593', 'score': 563.87}, {'connected_gene': 'ITFG2', 'score': 25.08}, {'connected_gene': 'CBX3P4', 'score': 11.41}, {'connected_gene': 'IQSEC3P1', 'score': 10.76}, {'connected_gene': 'NRIP2', 'score': 9.98}, {'connected_gene': 'GC12M001963', 'score': 0.37}, {'connected_gene': 'CACNA1C', 'score': 0.29}]
chr12	GH12I003030	3030333	3034844	1.08	[{'connected_gene': 'TSPAN9', 'score': 11.5}, {'connected_gene': 'NRIP2', 'score': 11.34}, {'connected_gene': 'TULP3', 'score': 10.57}, {'connected_gene': 'FOXM1', 'score': 10.57}, {'connected_gene': 'RHNO1', 'score': 10.57}, {'connected_gene': 'ITFG2', 'score': 10.08}, {'connected_gene': 'FKBP4', 'score': 10.07}, {'connected_gene': 'GC12M003040', 'score': 0.44}, {'connected_gene': 'GC12P002971', 'score': 0.21}, {'connected_gene': 'TEAD4', 'score': 0.19}]
chr12	GH12I003204	3204329	3204562	0.6	[{'connected_gene': 'TSPAN9', 'score': 7.04}, {'connected_gene': 'NRIP2', 'score': 5.14}, {'connected_gene': 'RPS27P3', 'score': 0.44}, {'connected_gene': 'ENSG00000275850', 'score': 0.29}]
chr12	GH12I003054	3054802	3056651	0.56	[{'connected_gene': 'TSPAN9', 'score': 11.59}, {'connected_gene': 'NRIP2', 'score': 10.2}, {'connected_gene': 'FOXM1', 'score': 9.93}, {'connected_gene': 'RHNO1', 'score': 9.93}, {'connected_gene': 'TULP3', 'score': 9.93}, {'connected_gene': 'ITFG2', 'score': 9.42}, {'connected_gene': 'PIR51354', 'score': 0.39}, {'connected_gene': 'RPL13AP24', 'score': 0.37}]
chr12	GH12I003070	3070653	3072066	0.82	[{'connected_gene': 'RPL13AP24', 'score': 550.77}, {'connected_gene': 'NRIP2', 'score': 10.35}, {'connected_gene': 'TSPAN9', 'score': 8.54}, {'connected_gene': 'PIR51354', 'score': 0.31}]
chr12	GH12I003073	3073015	3074322	1.09	[{'connected_gene': 'RPL13AP24', 'score': 550.77}, {'connected_gene': 'NRIP2', 'score': 10.35}, {'connected_gene': 'TSPAN9', 'score': 10.22}]
chr12	GH12I002753	2753201	2753343	0.51	[{'connected_gene': 'IQSEC3P1', 'score': 555.53}, {'connected_gene': 'FKBP4', 'score': 10.33}, {'connected_gene': 'ITFG2', 'score': 10.3}, {'connected_gene': 'NRIP2', 'score': 9.86}, {'connected_gene': 'FOXM1', 'score': 8.97}, {'connected_gene': 'RHNO1', 'score': 8.97}, {'connected_gene': 'TULP3', 'score': 8.97}, {'connected_gene': 'ITFG2-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000256150', 'score': 0.22}]
chr12	GH12I002752	2752715	2752904	1	[{'connected_gene': 'IQSEC3P1', 'score': 550.77}, {'connected_gene': 'FKBP4', 'score': 10.33}, {'connected_gene': 'ITFG2', 'score': 10.3}, {'connected_gene': 'NRIP2', 'score': 9.86}, {'connected_gene': 'FOXM1', 'score': 8.97}, {'connected_gene': 'RHNO1', 'score': 8.97}, {'connected_gene': 'TULP3', 'score': 8.97}, {'connected_gene': 'LOC100422463', 'score': 0.39}, {'connected_gene': 'ENSG00000256150', 'score': 0.21}]
chr12	GH12I002803	2803700	2805810	0.64	[{'connected_gene': 'ENSG00000258092', 'score': 550.77}, {'connected_gene': 'NRIP2', 'score': 5.47}, {'connected_gene': 'ENSG00000256150', 'score': 0.44}, {'connected_gene': 'FKBP4', 'score': 0.44}, {'connected_gene': 'ITFG2', 'score': 0.44}]
chr12	GH12I002843	2843051	2843230	0.23	[{'connected_gene': 'GC12P002844', 'score': 550.77}, {'connected_gene': 'NRIP2', 'score': 0.44}, {'connected_gene': 'ITFG2', 'score': 0.29}]
chr12	GH12I002885	2885158	2885984	0.8	[{'connected_gene': 'ENSG00000278356', 'score': 550.77}, {'connected_gene': 'RHNO1', 'score': 24.01}, {'connected_gene': 'NRIP2', 'score': 10.69}, {'connected_gene': 'ITFG2', 'score': 10.23}, {'connected_gene': 'FKBP4', 'score': 10.01}, {'connected_gene': 'GC12P002880', 'score': 0.77}, {'connected_gene': 'TULP3', 'score': 0.44}]