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
ENST00000298317	[[126071992, 126073552], [126074125, 126074223], [126075362, 126075507], [126075582, 126075676], [126079415, 126079617], [126080784, 126080950], [126081344, 126081587]]	[[126073312, 126073552], [126074125, 126074223], [126075362, 126075507], [126075582, 126075676], [126079415, 126079617], [126080784, 126080950], [126081344, 126081533]]
ENST00000533628	[[126072308, 126073552], [126074125, 126074223], [126075362, 126075434], [126075602, 126075676], [126079415, 126079617], [126080784, 126080950], [126081344, 126081541]]	[[126073312, 126073552], [126074125, 126074223], [126075362, 126075434], [126075602, 126075676], [126079415, 126079617], [126080784, 126080950], [126081344, 126081533]]
ENST00000526942	[[126072676, 126073552], [126074125, 126074223], [126075362, 126075507], [126075582, 126075676], [126079385, 126079617], [126080784, 126080950], [126081344, 126081524]]	None
ENST00000530903	[[126073216, 126073552], [126074125, 126074223], [126075362, 126075507], [126075582, 126076407]]	None
ENST00000532674	[[126075361, 126075414], [126079500, 126079617], [126080784, 126080950], [126081344, 126081587]]	[[126075361, 126075414], [126079500, 126079617], [126080784, 126080950], [126081344, 126081533]]
ENST00000534393	[[126075465, 126075507], [126075582, 126075676], [126079415, 126079617], [126080784, 126080950], [126081227, 126081302]]	None
ENST00000530036	[[126075613, 126075676], [126076148, 126076448], [126079415, 126079618]]	None
ENST00000532800	[[126078934, 126079617], [126080784, 126080950], [126081344, 126081525]]	None
ENST00000525812	[[126079445, 126079617], [126080784, 126081192]]	None
NM_032795	[[126071988, 126073552], [126074125, 126074223], [126075362, 126075507], [126075582, 126075676], [126079415, 126079617], [126080784, 126080950], [126081344, 126081587]]	[[126073312, 126073552], [126074125, 126074223], [126075362, 126075507], [126075582, 126075676], [126079415, 126079617], [126080784, 126080950], [126081344, 126081533]]
NM_001144827	[[126071988, 126073552], [126074125, 126074223], [126075362, 126075434], [126075602, 126075676], [126079415, 126079617], [126080784, 126080950], [126081344, 126081587]]	[[126073312, 126073552], [126074125, 126074223], [126075362, 126075434], [126075602, 126075676], [126079415, 126079617], [126080784, 126080950], [126081344, 126081533]]

Promoter

Chrom	Start	End	Description
chr11	126077478	126077485	CAGE_peak_4_at_RPUSD4_5end
chr11	126077493	126077505	CAGE_peak_3_at_RPUSD4_5end
chr11	126081532	126081568	CAGE_peak_1_at_RPUSD4_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I125890	125890168	125891271	0.67	[{'connected_gene': 'RPUSD4', 'score': 10.53}, {'connected_gene': 'PUS3', 'score': 7.29}, {'connected_gene': 'CHEK1', 'score': 6.12}, {'connected_gene': 'PIR58536', 'score': 0.77}, {'connected_gene': 'GC11P125889', 'score': 0.77}, {'connected_gene': 'PIR36090', 'score': 0.44}, {'connected_gene': 'HYLS1', 'score': 0.44}]
chr11	GH11I125923	125923146	125923315	0.69	[{'connected_gene': 'FAM118B', 'score': 10.6}, {'connected_gene': 'RPUSD4', 'score': 10.6}, {'connected_gene': 'ENSG00000254694', 'score': 10.6}, {'connected_gene': 'GC11P125928', 'score': 0.77}, {'connected_gene': 'PUS3', 'score': 0.37}, {'connected_gene': 'DDX25', 'score': 0.37}, {'connected_gene': 'ENSG00000255027', 'score': 0.37}]
chr11	GH11I126231	126231906	126232055	0.43	[{'connected_gene': 'FAM118B', 'score': 11.19}, {'connected_gene': 'RPUSD4', 'score': 11.19}, {'connected_gene': 'ENSG00000254694', 'score': 11.19}, {'connected_gene': 'SRPRA', 'score': 10.7}, {'connected_gene': 'FOXRED1', 'score': 10.7}, {'connected_gene': 'RN7SL351P', 'score': 0.39}, {'connected_gene': 'RNU4-86P', 'score': 0.37}]
chr11	GH11I126210	126210529	126213526	2.02	[{'connected_gene': 'FAM118B', 'score': 570.85}, {'connected_gene': 'RPUSD4', 'score': 550.77}, {'connected_gene': 'FOXRED1', 'score': 70.67}, {'connected_gene': 'ENSG00000254694', 'score': 12.97}, {'connected_gene': 'STT3A', 'score': 11.68}, {'connected_gene': 'SRPRA', 'score': 10.76}, {'connected_gene': 'CDON', 'score': 10.06}, {'connected_gene': 'RNU4-86P', 'score': 0.77}]
chr11	GH11I126190	126190366	126191601	0.69	[{'connected_gene': 'FAM118B', 'score': 29.15}, {'connected_gene': 'RPUSD4', 'score': 16.25}, {'connected_gene': 'RNU4-86P', 'score': 11.22}, {'connected_gene': 'ENSG00000254790', 'score': 11.07}, {'connected_gene': 'DCPS', 'score': 5.4}, {'connected_gene': 'ENSG00000254771', 'score': 0.39}, {'connected_gene': 'ENSG00000254694', 'score': 0.37}]
chr11	GH11I126188	126188150	126190295	1.1	[{'connected_gene': 'FAM118B', 'score': 35.32}, {'connected_gene': 'FOXRED1', 'score': 30.04}, {'connected_gene': 'RPUSD4', 'score': 16.07}, {'connected_gene': 'ENSG00000254833', 'score': 11.66}, {'connected_gene': 'ENSG00000254790', 'score': 11.3}, {'connected_gene': 'RNU4-86P', 'score': 11.19}, {'connected_gene': 'DCPS', 'score': 5.4}, {'connected_gene': 'ENSG00000254771', 'score': 0.44}, {'connected_gene': 'ENSG00000254694', 'score': 0.37}]
chr11	GH11I126067	126067993	126068246	0.24	[{'connected_gene': 'NAP1L1P1', 'score': 550.77}, {'connected_gene': 'FAM118B', 'score': 10.11}, {'connected_gene': 'RPUSD4', 'score': 10.11}, {'connected_gene': 'ENSG00000254694', 'score': 10.11}, {'connected_gene': 'ENSG00000261257', 'score': 0.29}]
chr11	GH11I126203	126203206	126203355	0.63	[{'connected_gene': 'SRPRA', 'score': 10.27}, {'connected_gene': 'FOXRED1', 'score': 10.27}, {'connected_gene': 'ENSG00000254790', 'score': 10.06}, {'connected_gene': 'RPUSD4', 'score': 0.44}, {'connected_gene': 'ENSG00000254694', 'score': 0.44}, {'connected_gene': 'ENSG00000254771', 'score': 0.34}]
chr11	GH11I125904	125904200	125904535	1.56	[{'connected_gene': 'DDX25', 'score': 563.5}, {'connected_gene': 'PUS3', 'score': 550.77}, {'connected_gene': 'ENSG00000254790', 'score': 10.3}, {'connected_gene': 'FAM118B', 'score': 10.0}, {'connected_gene': 'RPUSD4', 'score': 10.0}, {'connected_gene': 'ENSG00000254694', 'score': 10.0}, {'connected_gene': 'GC11P125928', 'score': 0.34}, {'connected_gene': 'ENSG00000255027', 'score': 0.29}]
chr11	GH11I125901	125901994	125904000	1.94	[{'connected_gene': 'DDX25', 'score': 604.02}, {'connected_gene': 'PUS3', 'score': 557.71}, {'connected_gene': 'ENSG00000254790', 'score': 10.3}, {'connected_gene': 'FAM118B', 'score': 10.0}, {'connected_gene': 'RPUSD4', 'score': 10.0}, {'connected_gene': 'ENSG00000254694', 'score': 10.0}, {'connected_gene': 'PIR36090', 'score': 0.77}, {'connected_gene': 'ENSG00000255027', 'score': 0.28}]
chr11	GH11I126280	126280368	126284525	1.95	[{'connected_gene': 'TIRAP', 'score': 550.77}, {'connected_gene': 'FOXRED1', 'score': 53.11}, {'connected_gene': 'FAM118B', 'score': 42.33}, {'connected_gene': 'ENSG00000254694', 'score': 21.8}, {'connected_gene': 'DCPS', 'score': 18.95}, {'connected_gene': 'HP11014', 'score': 11.65}, {'connected_gene': 'RPUSD4', 'score': 10.74}, {'connected_gene': 'RNU4-86P', 'score': 10.04}, {'connected_gene': 'ENSG00000254905', 'score': 0.39}]
chr11	GH11I126215	126214201	126214400	0.43	[{'connected_gene': 'RNU4-86P', 'score': 550.77}, {'connected_gene': 'FAM118B', 'score': 0.77}, {'connected_gene': 'RPUSD4', 'score': 0.77}]
chr11	GH11I126246	126246746	126246895	0.2	[{'connected_gene': 'RN7SL351P', 'score': 550.77}, {'connected_gene': 'FAM118B', 'score': 11.04}, {'connected_gene': 'RPUSD4', 'score': 11.04}, {'connected_gene': 'ENSG00000254694', 'score': 11.04}, {'connected_gene': 'RNU4-86P', 'score': 10.7}, {'connected_gene': 'DDX25', 'score': 9.59}, {'connected_gene': 'PUS3', 'score': 9.59}, {'connected_gene': 'DCPS', 'score': 6.53}, {'connected_gene': 'FOXRED1', 'score': 0.34}]
chr11	GH11I126418	126418050	126428170	1.61	[{'connected_gene': 'HP11014', 'score': 28.37}, {'connected_gene': 'ST3GAL4', 'score': 16.85}, {'connected_gene': 'DCPS', 'score': 11.96}, {'connected_gene': 'FAM118B', 'score': 9.59}, {'connected_gene': 'RPUSD4', 'score': 9.59}, {'connected_gene': 'ENSG00000254694', 'score': 9.59}, {'connected_gene': 'LOC105369558', 'score': 8.8}, {'connected_gene': 'FEZ1', 'score': 5.16}, {'connected_gene': 'ENSG00000278215', 'score': 0.25}, {'connected_gene': 'KIRREL3-AS1', 'score': 0.13}, {'connected_gene': 'KIRREL3', 'score': 0.03}]
chr11	GH11I126185	126185366	126185515	0.54	[{'connected_gene': 'ENSG00000254833', 'score': 11.95}, {'connected_gene': 'RPUSD4', 'score': 10.64}, {'connected_gene': 'RNU4-86P', 'score': 10.64}, {'connected_gene': 'ENSG00000254771', 'score': 0.44}, {'connected_gene': 'ENSG00000254694', 'score': 0.34}]
chr11	GH11I125925	125925143	125925911	0.83	[{'connected_gene': 'GC11P125928', 'score': 550.77}, {'connected_gene': 'FAM118B', 'score': 10.6}, {'connected_gene': 'RPUSD4', 'score': 10.6}, {'connected_gene': 'ENSG00000254694', 'score': 10.6}, {'connected_gene': 'EI24', 'score': 6.26}, {'connected_gene': 'DDX25', 'score': 5.93}, {'connected_gene': 'LOC105369554', 'score': 0.39}, {'connected_gene': 'ENSG00000255027', 'score': 0.39}, {'connected_gene': 'PUS3', 'score': 0.34}]