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
ENST00000519937	[[85884436, 85886805], [85888576, 85888658], [85889151, 85889232], [85890468, 85890614], [85890786, 85890970], [85892411, 85892501], [85892728, 85892917], [85893739, 85893865], [85894228, 85894300], [85894801, 85894929], [85895239, 85895326]]	[[85888595, 85888658], [85889151, 85889232], [85890468, 85890614], [85890786, 85890970], [85892411, 85892501], [85892728, 85892917], [85893739, 85893865], [85894228, 85894300], [85894801, 85894929], [85895239, 85895306]]
ENST00000342375	[[85884442, 85886805], [85888576, 85888658], [85889151, 85889232], [85890468, 85890614], [85890786, 85890970], [85892411, 85892501], [85892728, 85892917], [85893739, 85893865], [85894228, 85894300], [85894801, 85894929], [85895239, 85895374], [85895796, 85895864]]	[[85888595, 85888658], [85889151, 85889232], [85890468, 85890614], [85890786, 85890970], [85892411, 85892501], [85892728, 85892917], [85893739, 85893865], [85894228, 85894300], [85894801, 85894929], [85895239, 85895306]]
ENST00000393822	[[85884442, 85886805], [85888576, 85888658], [85889151, 85889232], [85890468, 85890614], [85890786, 85890970], [85892411, 85892501], [85892728, 85892917], [85893739, 85893865], [85894228, 85894300], [85894801, 85894929], [85895239, 85895374], [85895796, 85895864]]	[[85888595, 85888658], [85889151, 85889232], [85890468, 85890614], [85890786, 85890970], [85892411, 85892501], [85892728, 85892917], [85893739, 85893865], [85894228, 85894300], [85894801, 85894929], [85895239, 85895342]]
ENST00000428225	[[85885377, 85885978], [85888576, 85888658], [85889151, 85889232], [85890468, 85890602], [85890786, 85890970], [85892411, 85892501], [85892728, 85892917], [85893739, 85893865], [85894228, 85894300], [85894801, 85894929], [85895239, 85895295]]	[[85888595, 85888658], [85889151, 85889232], [85890468, 85890602], [85890786, 85890970], [85892411, 85892501], [85892728, 85892917], [85893739, 85893865], [85894228, 85894300], [85894801, 85894929], [85895239, 85895295]]
ENST00000409383	[[85885412, 85885978], [85888576, 85888658], [85889151, 85889232], [85890468, 85890614], [85890786, 85890970], [85892411, 85892501], [85892728, 85892917], [85893739, 85893865], [85894228, 85894300], [85894801, 85894929], [85895239, 85895374], [85895796, 85895864]]	[[85888595, 85888658], [85889151, 85889232], [85890468, 85890614], [85890786, 85890970], [85892411, 85892501], [85892728, 85892917], [85893739, 85893865], [85894228, 85894300], [85894801, 85894929], [85895239, 85895342]]
ENST00000494165	[[85888340, 85888658], [85889151, 85889232], [85890468, 85890601]]	[[85888595, 85888658], [85889151, 85889232], [85890468, 85890601]]
ENST00000491167	[[85889336, 85889402], [85890468, 85890670]]	None
ENST00000473692	[[85893657, 85893865], [85894228, 85894300], [85894801, 85894929], [85895239, 85895312]]	None
NM_000542	[[85884439, 85886805], [85888576, 85888658], [85889151, 85889232], [85890468, 85890614], [85890786, 85890970], [85892411, 85892501], [85892728, 85892917], [85893739, 85893865], [85894228, 85894300], [85894801, 85894929], [85895239, 85895374], [85895796, 85895864]]	[[85888595, 85888658], [85889151, 85889232], [85890468, 85890614], [85890786, 85890970], [85892411, 85892501], [85892728, 85892917], [85893739, 85893865], [85894228, 85894300], [85894801, 85894929], [85895239, 85895342]]
NM_198843	[[85884439, 85885978], [85888576, 85888658], [85889151, 85889232], [85890468, 85890614], [85890786, 85890970], [85892411, 85892501], [85892728, 85892917], [85893739, 85893865], [85894228, 85894300], [85894801, 85894929], [85895239, 85895374], [85895796, 85895864]]	[[85888595, 85888658], [85889151, 85889232], [85890468, 85890614], [85890786, 85890970], [85892411, 85892501], [85892728, 85892917], [85893739, 85893865], [85894228, 85894300], [85894801, 85894929], [85895239, 85895342]]

Promoter

Chrom	Start	End	Description
chr2	85888600	85888615	CAGE_peak_15_at_SFTPB_5end
chr2	85888627	85888660	CAGE_peak_6_at_SFTPB_5end
chr2	85890508	85890534	CAGE_peak_10_at_SFTPB_5end
chr2	85890569	85890576	CAGE_peak_24_at_SFTPB_5end
chr2	85890821	85890836	CAGE_peak_14_at_SFTPB_5end
chr2	85890842	85890862	CAGE_peak_8_at_SFTPB_5end
chr2	85890883	85890893	CAGE_peak_17_at_SFTPB_5end
chr2	85890906	85890919	CAGE_peak_11_at_SFTPB_5end
chr2	85892774	85892795	CAGE_peak_9_at_SFTPB_5end
chr2	85892809	85892821	CAGE_peak_12_at_SFTPB_5end
chr2	85892828	85892855	CAGE_peak_7_at_SFTPB_5end
chr2	85892885	85892890	CAGE_peak_23_at_SFTPB_5end
chr2	85892901	85892909	CAGE_peak_20_at_SFTPB_5end
chr2	85892915	85892916	CAGE_peak_40_at_SFTPB_5end
chr2	85893058	85893063	CAGE_peak_35_at_SFTPB_5end
chr2	85893197	85893212	CAGE_peak_4_at_SFTPB_5end
chr2	85893272	85893280	CAGE_peak_18_at_SFTPB_5end
chr2	85893752	85893757	CAGE_peak_22_at_SFTPB_5end
chr2	85893765	85893801	CAGE_peak_2_at_SFTPB_5end
chr2	85893811	85893841	CAGE_peak_3_at_SFTPB_5end
chr2	85893907	85893914	CAGE_peak_16_at_SFTPB_5end
chr2	85894261	85894307	CAGE_peak_5_at_SFTPB_5end
chr2	85895315	85895331	CAGE_peak_1_at_SFTPB_5end
chr2	85895542	85895549	CAGE_peak_27_at_SFTPB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I085723	85723507	85725354	0.49	[{'connected_gene': 'ATOH8', 'score': 12.69}, {'connected_gene': 'SFTPB', 'score': 11.69}, {'connected_gene': 'LOC284950', 'score': 11.45}, {'connected_gene': 'RNU1-38P', 'score': 0.77}, {'connected_gene': 'GC02M085730', 'score': 0.77}, {'connected_gene': 'LOC100130649', 'score': 0.28}]
chr2	GH02I085718	85718805	85720597	0.2	[{'connected_gene': 'ATOH8', 'score': 19.88}, {'connected_gene': 'SFTPB', 'score': 15.81}, {'connected_gene': 'LOC284950', 'score': 11.52}, {'connected_gene': 'GNLY', 'score': 11.34}, {'connected_gene': 'CAPG', 'score': 8.66}, {'connected_gene': 'USP39', 'score': 5.47}, {'connected_gene': 'GC02M085730', 'score': 0.44}, {'connected_gene': 'RNU1-38P', 'score': 0.44}, {'connected_gene': 'LOC100130649', 'score': 0.29}]
chr2	GH02I085708	85708635	85709200	0.86	[{'connected_gene': 'ATOH8', 'score': 25.33}, {'connected_gene': 'SFTPB', 'score': 13.31}, {'connected_gene': 'GNLY', 'score': 11.45}, {'connected_gene': 'LOC284950', 'score': 11.39}, {'connected_gene': 'RNU1-38P', 'score': 0.37}, {'connected_gene': 'GC02M085730', 'score': 0.37}, {'connected_gene': 'LOC100130649', 'score': 0.34}]
chr2	GH02I085674	85674000	85675074	0.86	[{'connected_gene': 'ATOH8', 'score': 5.34}, {'connected_gene': 'SFTPB', 'score': 4.84}, {'connected_gene': 'LOC105374842', 'score': 0.44}, {'connected_gene': 'GC02P085634', 'score': 0.26}]
chr2	GH02I085786	85786784	85789600	0.43	[{'connected_gene': 'ATOH8', 'score': 12.83}, {'connected_gene': 'LOC284950', 'score': 12.13}, {'connected_gene': 'RNU1-38P', 'score': 11.92}, {'connected_gene': 'SFTPB', 'score': 11.45}, {'connected_gene': 'MIR6071', 'score': 0.77}, {'connected_gene': 'PIR53973', 'score': 0.37}]
chr2	GH02I085717	85717738	85717887	0.77	[{'connected_gene': 'ATOH8', 'score': 11.71}, {'connected_gene': 'LOC284950', 'score': 11.4}, {'connected_gene': 'GNLY', 'score': 11.34}, {'connected_gene': 'SFTPB', 'score': 11.07}, {'connected_gene': 'RNU1-38P', 'score': 0.39}, {'connected_gene': 'GC02M085730', 'score': 0.39}, {'connected_gene': 'LOC100130649', 'score': 0.29}]
chr2	GH02I085701	85701078	85707799	1.73	[{'connected_gene': 'ATOH8', 'score': 27.07}, {'connected_gene': 'GNLY', 'score': 23.52}, {'connected_gene': 'LOC100130649', 'score': 18.81}, {'connected_gene': 'SFTPB', 'score': 12.24}, {'connected_gene': 'C2orf68', 'score': 11.89}, {'connected_gene': 'USP39', 'score': 11.88}, {'connected_gene': 'RNU1-38P', 'score': 11.78}, {'connected_gene': 'LOC284950', 'score': 10.92}, {'connected_gene': 'VAMP8', 'score': 10.13}, {'connected_gene': 'SH2D6', 'score': 3.93}, {'connected_gene': 'GC02M085730', 'score': 0.34}]
chr2	GH02I085697	85697001	85699311	0.76	[{'connected_gene': 'ATOH8', 'score': 22.2}, {'connected_gene': 'LOC100130649', 'score': 19.07}, {'connected_gene': 'SFTPB', 'score': 12.16}, {'connected_gene': 'RNU1-38P', 'score': 11.78}, {'connected_gene': 'LOC284950', 'score': 10.02}, {'connected_gene': 'RPS2P17', 'score': 4.91}, {'connected_gene': 'GNLY', 'score': 0.39}, {'connected_gene': 'GC02M085730', 'score': 0.29}]
chr2	GH02I085690	85690621	85691361	0.31	[{'connected_gene': 'SNORD94', 'score': 19.45}, {'connected_gene': 'ATOH8', 'score': 18.63}, {'connected_gene': 'SFTPB', 'score': 12.08}, {'connected_gene': 'RNU1-38P', 'score': 11.55}, {'connected_gene': 'LOC284950', 'score': 11.15}, {'connected_gene': 'MAT2A', 'score': 9.97}, {'connected_gene': 'LOC100130649', 'score': 0.77}, {'connected_gene': 'GNLY', 'score': 0.44}, {'connected_gene': 'GC02M085730', 'score': 0.28}]
chr2	GH02I085716	85716755	85716837	0.35	[{'connected_gene': 'SFTPB', 'score': 11.52}, {'connected_gene': 'ATOH8', 'score': 11.33}, {'connected_gene': 'SH2D6', 'score': 3.99}, {'connected_gene': 'RNU1-38P', 'score': 0.39}, {'connected_gene': 'GC02M085730', 'score': 0.39}, {'connected_gene': 'LOC100130649', 'score': 0.31}]
chr2	GH02I085715	85715311	85715915	0.2	[{'connected_gene': 'SFTPB', 'score': 15.81}, {'connected_gene': 'LOC284950', 'score': 11.35}, {'connected_gene': 'GNLY', 'score': 11.32}, {'connected_gene': 'ATOH8', 'score': 10.83}, {'connected_gene': 'RNU1-38P', 'score': 0.39}, {'connected_gene': 'GC02M085730', 'score': 0.39}, {'connected_gene': 'LOC100130649', 'score': 0.31}]
chr2	GH02I085668	85668686	85668745	0.81	[{'connected_gene': 'SFTPB', 'score': 550.77}, {'connected_gene': 'GC02P085634', 'score': 0.29}]
chr2	GH02I085637	85637416	85638050	0.72	[{'connected_gene': 'USP39', 'score': 17.96}, {'connected_gene': 'SFTPB', 'score': 12.51}, {'connected_gene': 'GNLY', 'score': 12.16}, {'connected_gene': 'RNU1-38P', 'score': 11.44}, {'connected_gene': 'LOC284950', 'score': 11.4}, {'connected_gene': 'TMEM150A', 'score': 11.28}, {'connected_gene': 'ATOH8', 'score': 11.1}, {'connected_gene': 'VAMP8', 'score': 10.56}, {'connected_gene': 'GC02P085634', 'score': 0.77}]
chr2	GH02I085652	85652110	85653596	0.63	[{'connected_gene': 'USP39', 'score': 26.67}, {'connected_gene': 'GC02P085634', 'score': 0.37}, {'connected_gene': 'SFTPB', 'score': 0.37}]
chr2	GH02I085662	85662398	85663506	1.02	[{'connected_gene': 'USP39', 'score': 12.3}, {'connected_gene': 'SFTPB', 'score': 0.44}, {'connected_gene': 'GC02P085634', 'score': 0.31}]
chr2	GH02I085647	85647798	85650587	1.02	[{'connected_gene': 'USP39', 'score': 13.39}, {'connected_gene': 'POLR1A', 'score': 6.48}, {'connected_gene': 'GC02P085634', 'score': 0.39}, {'connected_gene': 'SFTPB', 'score': 0.37}]
chr2	GH02I085660	85660057	85660466	0.54	[{'connected_gene': 'USP39', 'score': 25.18}, {'connected_gene': 'GNLY', 'score': 12.01}, {'connected_gene': 'RNU1-38P', 'score': 11.17}, {'connected_gene': 'LOC284950', 'score': 10.55}, {'connected_gene': 'SFTPB', 'score': 8.33}, {'connected_gene': 'SH2D6', 'score': 3.74}, {'connected_gene': 'GC02P085634', 'score': 0.31}]
chr2	GH02I085678	85678802	85679605	1.26	[{'connected_gene': 'RNU1-38P', 'score': 12.08}, {'connected_gene': 'ATOH8', 'score': 11.55}, {'connected_gene': 'LOC284950', 'score': 11.26}, {'connected_gene': 'LOC105374842', 'score': 0.77}, {'connected_gene': 'SFTPB', 'score': 0.39}, {'connected_gene': 'GC02P085634', 'score': 0.26}]
chr2	GH02I085655	85655546	85656553	0.51	[{'connected_gene': 'RNU1-38P', 'score': 11.59}, {'connected_gene': 'GNLY', 'score': 11.42}, {'connected_gene': 'LOC284950', 'score': 11.12}, {'connected_gene': 'VAMP8', 'score': 10.26}, {'connected_gene': 'SFTPB', 'score': 0.39}, {'connected_gene': 'GC02P085634', 'score': 0.34}]
chr2	GH02I085709	85709294	85713947	1.39	[{'connected_gene': 'GNLY', 'score': 33.56}, {'connected_gene': 'ATOH8', 'score': 25.64}, {'connected_gene': 'LOC100130649', 'score': 14.19}, {'connected_gene': 'SFTPB', 'score': 11.67}, {'connected_gene': 'LOC284950', 'score': 11.15}, {'connected_gene': 'RNU1-38P', 'score': 0.37}, {'connected_gene': 'GC02M085730', 'score': 0.37}]
chr2	GH02I085693	85693683	85694675	1.01	[{'connected_gene': 'GNLY', 'score': 567.2}, {'connected_gene': 'SFTPB', 'score': 12.05}, {'connected_gene': 'RNU1-38P', 'score': 11.57}, {'connected_gene': 'ATOH8', 'score': 11.18}, {'connected_gene': 'LOC284950', 'score': 11.15}, {'connected_gene': 'LOC100130649', 'score': 0.44}, {'connected_gene': 'GC02M085730', 'score': 0.29}]
chr2	GH02I085672	85672201	85673000	0.38	[{'connected_gene': 'GNLY', 'score': 9.12}, {'connected_gene': 'SFTPB', 'score': 0.77}, {'connected_gene': 'LOC105374842', 'score': 0.44}, {'connected_gene': 'GC02P085634', 'score': 0.28}]