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
ENST00000272233	[[20646834, 20649200]]	[[20647226, 20647817]]
NM_004040	[[20646831, 20649206]]	[[20647226, 20647817]]

Promoter

Chrom	Start	End	Description
chr2	20646824	20646844	CAGE_peak_1_at_RHOB_5end
chr2	20647026	20647047	CAGE_peak_5_at_RHOB_5end
chr2	20647862	20647881	CAGE_peak_4_at_RHOB_5end
chr2	20648130	20648147	CAGE_peak_9_at_RHOB_5end
chr2	20648188	20648191	CAGE_peak_27_at_RHOB_5end
chr2	20648556	20648582	CAGE_peak_3_at_RHOB_5end
chr2	20648924	20648935	CAGE_peak_8_at_RHOB_5end
chr2	20648940	20648953	CAGE_peak_2_at_RHOB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I020438	20438107	20440175	1.64	[{'connected_gene': 'HS1BP3', 'score': 3.08}, {'connected_gene': 'RHOB', 'score': 0.44}, {'connected_gene': 'LOC105373465', 'score': 0.39}]
chr2	GH02I020432	20432316	20433269	0.62	[{'connected_gene': 'HS1BP3', 'score': 11.06}, {'connected_gene': 'LOC105373465', 'score': 0.44}, {'connected_gene': 'RHOB', 'score': 0.39}]
chr2	GH02I020429	20429173	20430412	1.35	[{'connected_gene': 'HS1BP3', 'score': 14.41}, {'connected_gene': 'ENSG00000228950', 'score': 5.14}, {'connected_gene': 'LOC105373465', 'score': 0.77}, {'connected_gene': 'RHOB', 'score': 0.37}]
chr2	GH02I020433	20433798	20435355	0.49	[{'connected_gene': 'HS1BP3', 'score': 11.06}, {'connected_gene': 'ENSG00000228950', 'score': 5.04}, {'connected_gene': 'LOC105373465', 'score': 0.44}, {'connected_gene': 'RHOB', 'score': 0.39}]
chr2	GH02I020430	20430871	20431216	1.37	[{'connected_gene': 'HS1BP3', 'score': 13.72}, {'connected_gene': 'LOC105373465', 'score': 0.44}, {'connected_gene': 'RHOB', 'score': 0.37}]
chr2	GH02I020205	20205353	20226614	2.76	[{'connected_gene': 'SDC1', 'score': 589.92}, {'connected_gene': 'PUM2', 'score': 16.04}, {'connected_gene': 'RNU7-113P', 'score': 11.57}, {'connected_gene': 'RNU6-961P', 'score': 11.28}, {'connected_gene': 'LAPTM4A', 'score': 10.19}, {'connected_gene': 'ENSG00000228950', 'score': 5.28}, {'connected_gene': 'RHOB', 'score': 1.24}, {'connected_gene': 'GC02M020197', 'score': 0.77}]
chr2	GH02I020365	20365137	20367516	1.15	[{'connected_gene': 'RHOB', 'score': 10.95}, {'connected_gene': 'ENSG00000228950', 'score': 10.95}, {'connected_gene': 'LAPTM4A', 'score': 5.16}, {'connected_gene': 'ENSG00000269976', 'score': 4.22}, {'connected_gene': 'TTC32', 'score': 2.41}, {'connected_gene': 'HS1BP3', 'score': 1.18}, {'connected_gene': 'GC02P020358', 'score': 0.44}, {'connected_gene': 'SLC7A15P', 'score': 0.34}]
chr2	GH02I020531	20531969	20536293	1.31	[{'connected_gene': 'RHOB', 'score': 10.09}, {'connected_gene': 'LOC727919', 'score': 0.77}, {'connected_gene': 'LOC102724948', 'score': 0.44}]
chr2	GH02I020505	20505861	20507600	1.48	[{'connected_gene': 'RHOB', 'score': 11.46}, {'connected_gene': 'ENSG00000228950', 'score': 11.46}, {'connected_gene': 'ENSG00000269976', 'score': 5.0}, {'connected_gene': 'HS1BP3', 'score': 2.02}, {'connected_gene': 'ENSG00000227047', 'score': 0.44}, {'connected_gene': 'ENSG00000279307', 'score': 0.34}]
chr2	GH02I020592	20592321	20600805	1.76	[{'connected_gene': 'RHOB', 'score': 13.23}, {'connected_gene': 'GDF7', 'score': 12.92}, {'connected_gene': 'ENSG00000228950', 'score': 11.76}, {'connected_gene': 'APOB', 'score': 7.3}, {'connected_gene': 'HS1BP3', 'score': 2.32}, {'connected_gene': 'HS1BP3-IT1', 'score': 0.77}, {'connected_gene': 'RPS25P3', 'score': 0.39}]
chr2	GH02I020601	20601116	20601640	0.82	[{'connected_gene': 'RHOB', 'score': 10.92}, {'connected_gene': 'ENSG00000228950', 'score': 10.92}, {'connected_gene': 'GDF7', 'score': 10.21}, {'connected_gene': 'RPS25P3', 'score': 0.44}, {'connected_gene': 'HS1BP3-IT1', 'score': 0.44}, {'connected_gene': 'HS1BP3', 'score': 0.25}]
chr2	GH02I020441	20441779	20442570	0.46	[{'connected_gene': 'RHOB', 'score': 0.77}, {'connected_gene': 'LOC105373465', 'score': 0.37}]
chr2	GH02I020440	20440201	20440400	0.51	[{'connected_gene': 'RHOB', 'score': 0.44}, {'connected_gene': 'LOC105373465', 'score': 0.37}]
chr2	GH02I020524	20524362	20526085	1.38	[{'connected_gene': 'RHOB', 'score': 6.69}, {'connected_gene': 'ENSG00000279307', 'score': 0.77}, {'connected_gene': 'LOC102724948', 'score': 0.39}, {'connected_gene': 'ENSG00000227047', 'score': 0.34}]
chr2	GH02I020369	20369411	20370969	0.31	[{'connected_gene': 'RHOB', 'score': 10.96}, {'connected_gene': 'ENSG00000228950', 'score': 10.95}, {'connected_gene': 'GC02P020358', 'score': 0.39}, {'connected_gene': 'SLC7A15P', 'score': 0.37}]
chr2	GH02I020513	20513675	20517750	1.22	[{'connected_gene': 'RHOB', 'score': 5.87}, {'connected_gene': 'ENSG00000227047', 'score': 0.39}, {'connected_gene': 'ENSG00000279307', 'score': 0.39}]
chr2	GH02I020566	20566866	20581348	2.17	[{'connected_gene': 'PUM2', 'score': 22.58}, {'connected_gene': 'TTC32', 'score': 22.27}, {'connected_gene': 'RHOB', 'score': 20.95}, {'connected_gene': 'GDF7', 'score': 13.21}, {'connected_gene': 'ENSG00000228950', 'score': 11.1}, {'connected_gene': 'WDR35', 'score': 10.95}, {'connected_gene': 'RNU6-961P', 'score': 9.52}, {'connected_gene': 'HS1BP3-IT1', 'score': 5.9}, {'connected_gene': 'HS1BP3', 'score': 1.89}, {'connected_gene': 'ENSG00000269976', 'score': 0.39}, {'connected_gene': 'GC02P020545', 'score': 0.31}]
chr2	GH02I020625	20625148	20626974	1.01	[{'connected_gene': 'GDF7', 'score': 10.04}, {'connected_gene': 'HS1BP3', 'score': 6.05}, {'connected_gene': 'ENSG00000269976', 'score': 5.37}, {'connected_gene': 'RHOB', 'score': 1.56}, {'connected_gene': 'GC02M020612', 'score': 0.44}]
chr2	GH02I020641	20641139	20643499	1.03	[{'connected_gene': 'GDF7', 'score': 11.94}, {'connected_gene': 'ENSG00000228950', 'score': 11.62}, {'connected_gene': 'RHOB', 'score': 11.62}, {'connected_gene': 'HS1BP3', 'score': 6.37}, {'connected_gene': 'GC02M020612', 'score': 0.31}]
chr2	GH02I020421	20421411	20426272	1.64	[{'connected_gene': 'LOC105373465', 'score': 550.77}, {'connected_gene': 'RHOB', 'score': 12.33}, {'connected_gene': 'ENSG00000228950', 'score': 12.3}, {'connected_gene': 'HS1BP3', 'score': 3.69}, {'connected_gene': 'GC02P020419', 'score': 0.77}]
chr2	GH02I020536	20536661	20540571	1.34	[{'connected_gene': 'LOC102724948', 'score': 550.77}, {'connected_gene': 'RHOB', 'score': 10.97}, {'connected_gene': 'LOC727919', 'score': 0.44}]
chr2	GH02I020604	20604509	20605650	0.78	[{'connected_gene': 'RPS25P3', 'score': 550.77}, {'connected_gene': 'RHOB', 'score': 16.07}, {'connected_gene': 'ENSG00000228950', 'score': 10.92}, {'connected_gene': 'GDF7', 'score': 10.21}, {'connected_gene': 'HS1BP3-IT1', 'score': 0.39}, {'connected_gene': 'HS1BP3', 'score': 0.25}]
chr2	GH02I020613	20613744	20622215	1.63	[{'connected_gene': 'GC02M020612', 'score': 550.77}, {'connected_gene': 'RHOB', 'score': 8.68}, {'connected_gene': 'HS1BP3', 'score': 7.44}, {'connected_gene': 'ENSG00000269976', 'score': 6.43}, {'connected_gene': 'SDC1', 'score': 5.34}, {'connected_gene': 'GDF7', 'score': 2.92}]
chr2	GH02I020644	20644079	20646372	0.49	[{'connected_gene': 'ENSG00000228950', 'score': 10.77}, {'connected_gene': 'RHOB', 'score': 10.77}, {'connected_gene': 'HS1BP3', 'score': 0.44}, {'connected_gene': 'GC02M020612', 'score': 0.31}]
chr2	GH02I020633	20633151	20638138	1.34	[{'connected_gene': 'ENSG00000228950', 'score': 11.63}, {'connected_gene': 'RHOB', 'score': 11.63}, {'connected_gene': 'GDF7', 'score': 11.36}, {'connected_gene': 'PUM2', 'score': 10.53}, {'connected_gene': 'HS1BP3', 'score': 5.92}, {'connected_gene': 'GC02M020612', 'score': 0.37}]
chr2	GH02I020446	20446184	20453194	2.24	[{'connected_gene': 'ENSG00000228950', 'score': 564.8}, {'connected_gene': 'RHOB', 'score': 550.77}, {'connected_gene': 'GDF7', 'score': 10.56}, {'connected_gene': 'PUM2', 'score': 9.8}]
chr2	GH02I020442	20442866	20445801	1.04	[{'connected_gene': 'ENSG00000228950', 'score': 13.27}, {'connected_gene': 'RHOB', 'score': 0.77}, {'connected_gene': 'LOC105373465', 'score': 0.37}]
chr2	GH02I020483	20483065	20484269	0.4	[{'connected_gene': 'ENSG00000228950', 'score': 11.47}, {'connected_gene': 'RHOB', 'score': 11.45}, {'connected_gene': 'ENSG00000200829', 'score': 0.77}, {'connected_gene': 'ENSG00000227047', 'score': 0.37}]
chr2	GH02I020508	20508920	20511146	1.22	[{'connected_gene': 'ENSG00000228950', 'score': 11.46}, {'connected_gene': 'RHOB', 'score': 11.45}, {'connected_gene': 'ENSG00000269976', 'score': 5.08}, {'connected_gene': 'ENSG00000227047', 'score': 0.44}, {'connected_gene': 'ENSG00000279307', 'score': 0.37}]
chr2	GH02I020484	20484721	20485862	0.2	[{'connected_gene': 'ENSG00000228950', 'score': 11.47}, {'connected_gene': 'RHOB', 'score': 11.45}, {'connected_gene': 'ENSG00000200829', 'score': 0.77}, {'connected_gene': 'ENSG00000227047', 'score': 0.37}]
chr2	GH02I020479	20478180	20478289	0.31	[{'connected_gene': 'ENSG00000228950', 'score': 11.49}, {'connected_gene': 'RHOB', 'score': 11.47}, {'connected_gene': 'GC02M020478', 'score': 0.77}]
chr2	GH02I020478	20478670	20479944	0.2	[{'connected_gene': 'GC02M020478', 'score': 550.77}, {'connected_gene': 'GC02P020481', 'score': 550.77}, {'connected_gene': 'ENSG00000200829', 'score': 550.77}, {'connected_gene': 'ENSG00000228950', 'score': 17.65}, {'connected_gene': 'RHOB', 'score': 11.47}]