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
ENST00000372638	[[41326728, 41328018]]	[[41327244, 41327799]]
NM_133467	[[41326727, 41328018]]	[[41327244, 41327799]]

Promoter

Chrom	Start	End	Description
chr1	41328026	41328043	CAGE_peak_1_at_CITED4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I040698	40698562	40700523	1.46	[{'connected_gene': 'RIMS3', 'score': 25.49}, {'connected_gene': 'LOC105378674', 'score': 15.91}, {'connected_gene': 'MIR30E', 'score': 11.12}, {'connected_gene': 'MIR30C1', 'score': 11.11}, {'connected_gene': 'NFYC', 'score': 8.2}, {'connected_gene': 'ZNF684', 'score': 7.23}, {'connected_gene': 'KCNQ4', 'score': 4.4}, {'connected_gene': 'EXO5', 'score': 4.37}, {'connected_gene': 'CITED4', 'score': 4.23}, {'connected_gene': 'ZFP69', 'score': 4.07}, {'connected_gene': 'SMAP2', 'score': 2.96}, {'connected_gene': 'ZMPSTE24', 'score': 2.72}, {'connected_gene': 'NFYC-AS1', 'score': 0.44}, {'connected_gene': 'GC01P040752', 'score': 0.23}]
chr1	GH01I040872	40872409	40879162	1.33	[{'connected_gene': 'KCNQ4', 'score': 10.59}, {'connected_gene': 'CITED4', 'score': 10.4}, {'connected_gene': 'ENSG00000229528', 'score': 0.39}, {'connected_gene': 'PIR44205', 'score': 0.37}]
chr1	GH01I040906	40906151	40907934	0.74	[{'connected_gene': 'EXO5', 'score': 39.29}, {'connected_gene': 'NFYC', 'score': 31.37}, {'connected_gene': 'ENSG00000259943', 'score': 15.24}, {'connected_gene': 'CITED4', 'score': 15.0}, {'connected_gene': 'RLF', 'score': 10.68}, {'connected_gene': 'MIR30C1', 'score': 10.25}, {'connected_gene': 'MIR30E', 'score': 10.25}, {'connected_gene': 'NFYC-AS1', 'score': 10.02}, {'connected_gene': 'LOC105378672', 'score': 9.84}, {'connected_gene': 'PIR51186', 'score': 0.44}, {'connected_gene': 'LOC100128362', 'score': 0.29}, {'connected_gene': 'GC01M040907', 'score': 0.19}]
chr1	GH01I040708	40708173	40714303	2.51	[{'connected_gene': 'NFYC', 'score': 556.9}, {'connected_gene': 'EXO5', 'score': 45.44}, {'connected_gene': 'RLF', 'score': 28.4}, {'connected_gene': 'RIMS3', 'score': 24.95}, {'connected_gene': 'TRIT1', 'score': 18.42}, {'connected_gene': 'LOC105378674', 'score': 15.89}, {'connected_gene': 'NFYC-AS1', 'score': 14.93}, {'connected_gene': 'MIR30E', 'score': 11.23}, {'connected_gene': 'MIR30C1', 'score': 11.21}, {'connected_gene': 'LOC105378672', 'score': 10.71}, {'connected_gene': 'ZFP69', 'score': 6.91}, {'connected_gene': 'KCNQ4', 'score': 4.51}, {'connected_gene': 'ZNF684', 'score': 4.35}, {'connected_gene': 'CITED4', 'score': 1.94}, {'connected_gene': 'SMAP2', 'score': 1.49}, {'connected_gene': 'ZMPSTE24', 'score': 1.3}, {'connected_gene': 'GC01P040752', 'score': 0.26}]
chr1	GH01I040921	40921215	40923733	0.6	[{'connected_gene': 'MIR30C1', 'score': 10.32}, {'connected_gene': 'MIR30E', 'score': 10.32}, {'connected_gene': 'NFYC', 'score': 10.29}, {'connected_gene': 'SLFNL1', 'score': 9.99}, {'connected_gene': 'CITED4', 'score': 5.49}, {'connected_gene': 'LOC100128362', 'score': 0.37}, {'connected_gene': 'PIR51186', 'score': 0.34}, {'connected_gene': 'GC01M040907', 'score': 0.22}]
chr1	GH01I040859	40859231	40870777	2.27	[{'connected_gene': 'CITED4', 'score': 560.29}, {'connected_gene': 'ENSG00000229528', 'score': 550.77}, {'connected_gene': 'GC01M040863', 'score': 550.77}, {'connected_gene': 'EXO5', 'score': 27.47}, {'connected_gene': 'TRIT1', 'score': 17.75}, {'connected_gene': 'RLF', 'score': 11.13}, {'connected_gene': 'NFYC', 'score': 10.68}, {'connected_gene': 'PIR44205', 'score': 0.31}]
chr1	GH01I040918	40918033	40920822	1.12	[{'connected_gene': 'CITED4', 'score': 8.58}, {'connected_gene': 'PPT1', 'score': 5.11}, {'connected_gene': 'PIR51186', 'score': 0.34}, {'connected_gene': 'LOC100128362', 'score': 0.34}, {'connected_gene': 'GC01M040907', 'score': 0.22}]
chr1	GH01I040885	40885929	40888357	0.83	[{'connected_gene': 'CITED4', 'score': 17.38}, {'connected_gene': 'ENSG00000229528', 'score': 12.47}, {'connected_gene': 'MIR30C1', 'score': 9.53}, {'connected_gene': 'MIR30E', 'score': 9.52}, {'connected_gene': 'NFYC', 'score': 9.48}, {'connected_gene': 'ENSG00000259943', 'score': 6.16}, {'connected_gene': 'PIR44205', 'score': 0.44}]
chr1	GH01I040880	40880805	40881737	0.76	[{'connected_gene': 'CITED4', 'score': 6.34}, {'connected_gene': 'LOC105378672', 'score': 4.64}, {'connected_gene': 'PIR44205', 'score': 0.39}, {'connected_gene': 'ENSG00000229528', 'score': 0.37}]
chr1	GH01I040897	40897227	40903350	1.48	[{'connected_gene': 'CITED4', 'score': 14.43}, {'connected_gene': 'PIR51186', 'score': 0.77}, {'connected_gene': 'LOC100128362', 'score': 0.28}]
chr1	GH01I040888	40888957	40890991	0.77	[{'connected_gene': 'CITED4', 'score': 22.11}, {'connected_gene': 'PIR44205', 'score': 0.77}, {'connected_gene': 'ENSG00000229528', 'score': 0.31}]
chr1	GH01I040943	40943926	40946834	1.26	[{'connected_gene': 'UBE2V1P8', 'score': 550.77}, {'connected_gene': 'CITED4', 'score': 19.3}, {'connected_gene': 'ENSG00000229528', 'score': 12.07}, {'connected_gene': 'CTPS1', 'score': 11.77}, {'connected_gene': 'MIR30C1', 'score': 10.98}, {'connected_gene': 'MIR30E', 'score': 10.98}, {'connected_gene': 'NFYC', 'score': 10.96}, {'connected_gene': 'EXO5', 'score': 10.64}, {'connected_gene': 'ENSG00000235358', 'score': 5.34}, {'connected_gene': 'GC01P040947', 'score': 0.77}, {'connected_gene': 'GC01M040907', 'score': 0.29}]
chr1	GH01I040939	40939379	40940498	1.21	[{'connected_gene': 'LOC100128362', 'score': 550.77}, {'connected_gene': 'CTPS1', 'score': 11.75}, {'connected_gene': 'MIR30C1', 'score': 9.93}, {'connected_gene': 'MIR30E', 'score': 9.92}, {'connected_gene': 'NFYC', 'score': 9.9}, {'connected_gene': 'CITED4', 'score': 7.71}, {'connected_gene': 'GC01M040945', 'score': 0.77}, {'connected_gene': 'GC01M040907', 'score': 0.28}]
chr1	GH01I040948	40948166	40949638	1.28	[{'connected_gene': 'GC01P040947', 'score': 550.77}, {'connected_gene': 'CITED4', 'score': 16.74}, {'connected_gene': 'ENSG00000229528', 'score': 12.07}, {'connected_gene': 'MIR30C1', 'score': 10.98}, {'connected_gene': 'MIR30E', 'score': 10.98}, {'connected_gene': 'NFYC', 'score': 10.96}, {'connected_gene': 'ENSG00000235358', 'score': 5.2}, {'connected_gene': 'GC01M040907', 'score': 0.31}]