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
ENST00000290295	[[46802124, 46804405], [46805354, 46806540]]	[[46804151, 46804405], [46805354, 46805955]]
NM_006361	[[46802124, 46804405], [46805354, 46806111]]	[[46804151, 46804405], [46805354, 46805955]]

Promoter

Chrom	Start	End	Description
chr17	46806016	46806029	CAGE_peak_5_at_HOXB13_5end
chr17	46806035	46806059	CAGE_peak_2_at_HOXB13_5end
chr17	46806067	46806097	CAGE_peak_1_at_HOXB13_5end
chr17	46806098	46806118	CAGE_peak_3_at_HOXB13_5end
chr17	46806373	46806386	CAGE_peak_6_at_HOXB13_5end
chr17	46806404	46806415	CAGE_peak_7_at_HOXB13_5end
chr17	46806419	46806438	CAGE_peak_4_at_HOXB13_5end
chr17	46806554	46806558	CAGE_peak_9_at_HOXB13_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I049076	49076545	49077828	0.86	[{'connected_gene': 'UBE2Z', 'score': 11.57}, {'connected_gene': 'ENSG00000262837', 'score': 11.16}, {'connected_gene': 'HOXB13', 'score': 9.42}, {'connected_gene': 'B4GALNT2P1', 'score': 0.44}, {'connected_gene': 'GC17P049052', 'score': 0.31}]
chr17	GH17I048799	48799093	48802730	0.82	[{'connected_gene': 'ATP5MC1', 'score': 27.19}, {'connected_gene': 'TTLL6', 'score': 15.05}, {'connected_gene': 'PRAC1', 'score': 11.45}, {'connected_gene': 'PRAC2', 'score': 11.45}, {'connected_gene': 'LOC105371811', 'score': 11.35}, {'connected_gene': 'HOXB13', 'score': 11.34}, {'connected_gene': 'ENSG00000238804', 'score': 10.49}, {'connected_gene': 'ENSG00000230532', 'score': 10.26}, {'connected_gene': 'RNU1-42P', 'score': 10.25}, {'connected_gene': 'SNF8', 'score': 10.25}, {'connected_gene': 'MIR196A1', 'score': 9.94}, {'connected_gene': 'CALCOCO2', 'score': 9.72}, {'connected_gene': 'LOC105371813', 'score': 0.39}, {'connected_gene': 'RN7SL125P', 'score': 0.28}]
chr17	GH17I048840	48840002	48843876	1.28	[{'connected_gene': 'ATP5MC1', 'score': 29.4}, {'connected_gene': 'TTLL6', 'score': 24.44}, {'connected_gene': 'PRAC1', 'score': 10.75}, {'connected_gene': 'PRAC2', 'score': 10.75}, {'connected_gene': 'HOXB13', 'score': 10.44}, {'connected_gene': 'LOC105371811', 'score': 10.26}, {'connected_gene': 'CALCOCO2', 'score': 9.58}, {'connected_gene': 'UBE2Z', 'score': 8.21}, {'connected_gene': 'FAM117A', 'score': 6.0}, {'connected_gene': 'GC17P048882', 'score': 0.28}]
chr17	GH17I048869	48869148	48874263	1.21	[{'connected_gene': 'ATP5MC1', 'score': 30.6}, {'connected_gene': 'TTLL6', 'score': 23.08}, {'connected_gene': 'CALCOCO2', 'score': 21.04}, {'connected_gene': 'UBE2Z', 'score': 19.22}, {'connected_gene': 'ENSG00000230532', 'score': 12.02}, {'connected_gene': 'HOXB13', 'score': 10.72}, {'connected_gene': 'PRAC1', 'score': 10.7}, {'connected_gene': 'PRAC2', 'score': 10.69}, {'connected_gene': 'SUMO2P17', 'score': 10.58}, {'connected_gene': 'LOC105371811', 'score': 10.33}, {'connected_gene': 'ENSG00000238804', 'score': 10.19}, {'connected_gene': 'MIR196A1', 'score': 9.89}, {'connected_gene': 'FAM117A', 'score': 6.09}, {'connected_gene': 'GC17P048882', 'score': 0.44}]
chr17	GH17I048789	48789114	48789126	0.22	[{'connected_gene': 'PRAC2', 'score': 11.51}, {'connected_gene': 'PRAC1', 'score': 11.51}, {'connected_gene': 'HOXB13', 'score': 11.34}, {'connected_gene': 'LOC105371811', 'score': 11.34}, {'connected_gene': 'ATP5MC1', 'score': 11.0}, {'connected_gene': 'TTLL6', 'score': 10.7}, {'connected_gene': 'ENSG00000230532', 'score': 9.94}, {'connected_gene': 'SNF8', 'score': 9.93}, {'connected_gene': 'RNU1-42P', 'score': 9.92}, {'connected_gene': 'ENSG00000238804', 'score': 9.84}, {'connected_gene': 'HOXB9', 'score': 9.66}, {'connected_gene': 'HOXB-AS4', 'score': 9.66}, {'connected_gene': 'SKAP1', 'score': 8.77}, {'connected_gene': 'RN7SL125P', 'score': 0.34}, {'connected_gene': 'LOC105371813', 'score': 0.34}]
chr17	GH17I048719	48718524	48720520	0.79	[{'connected_gene': 'PRAC2', 'score': 550.77}, {'connected_gene': 'HOXB13', 'score': 6.36}, {'connected_gene': 'COX6B1P2', 'score': 0.44}]
chr17	GH17I048623	48623432	48629868	2	[{'connected_gene': 'HOXB9', 'score': 560.38}, {'connected_gene': 'ENSG00000264701', 'score': 12.73}, {'connected_gene': 'ENSG00000230532', 'score': 11.87}, {'connected_gene': 'CDK5RAP3', 'score': 11.03}, {'connected_gene': 'PRAC2', 'score': 9.56}, {'connected_gene': 'PRAC1', 'score': 9.56}, {'connected_gene': 'HOXB13', 'score': 9.52}, {'connected_gene': 'LOC105371811', 'score': 9.51}, {'connected_gene': 'HOXB2', 'score': 8.9}, {'connected_gene': 'HOXB8', 'score': 4.92}, {'connected_gene': 'HOXB5', 'score': 2.52}, {'connected_gene': 'HOXB6', 'score': 2.51}, {'connected_gene': 'HOXB7', 'score': 2.2}, {'connected_gene': 'HOXB3', 'score': 1.57}, {'connected_gene': 'SNF8', 'score': 1.23}, {'connected_gene': 'PIR60728', 'score': 0.77}, {'connected_gene': 'HOXB-AS4', 'score': 0.77}]
chr17	GH17I048783	48783881	48784123	0.22	[{'connected_gene': 'TTLL6', 'score': 39.61}, {'connected_gene': 'PRAC1', 'score': 12.89}, {'connected_gene': 'PRAC2', 'score': 11.51}, {'connected_gene': 'HOXB13', 'score': 11.35}, {'connected_gene': 'LOC105371811', 'score': 11.35}, {'connected_gene': 'ATP5MC1', 'score': 10.99}, {'connected_gene': 'ENSG00000230532', 'score': 9.94}, {'connected_gene': 'RNU1-42P', 'score': 9.93}, {'connected_gene': 'SNF8', 'score': 9.92}, {'connected_gene': 'ENSG00000238804', 'score': 9.83}, {'connected_gene': 'HOXB9', 'score': 9.67}, {'connected_gene': 'HOXB-AS4', 'score': 9.67}, {'connected_gene': 'SKAP1', 'score': 8.77}, {'connected_gene': 'RN7SL125P', 'score': 0.37}, {'connected_gene': 'LOC105371813', 'score': 0.31}]
chr17	GH17I048851	48851002	48852852	0.74	[{'connected_gene': 'TTLL6', 'score': 12.41}, {'connected_gene': 'ATP5MC1', 'score': 10.97}, {'connected_gene': 'PRAC1', 'score': 10.86}, {'connected_gene': 'PRAC2', 'score': 10.84}, {'connected_gene': 'HOXB13', 'score': 10.43}, {'connected_gene': 'LOC105371811', 'score': 10.25}, {'connected_gene': 'CALCOCO2', 'score': 5.33}, {'connected_gene': 'GC17P048882', 'score': 0.31}]
chr17	GH17I048854	48854479	48856220	0.38	[{'connected_gene': 'TTLL6', 'score': 12.39}, {'connected_gene': 'ATP5MC1', 'score': 10.94}, {'connected_gene': 'PRAC2', 'score': 10.84}, {'connected_gene': 'PRAC1', 'score': 10.84}, {'connected_gene': 'HOXB13', 'score': 10.36}, {'connected_gene': 'UBE2Z', 'score': 8.88}, {'connected_gene': 'CALCOCO2', 'score': 5.32}, {'connected_gene': 'GC17P048882', 'score': 0.31}]
chr17	GH17I048994	48994033	49004862	2.5	[{'connected_gene': 'IGF2BP1', 'score': 556.97}, {'connected_gene': 'ENSG00000250838', 'score': 550.77}, {'connected_gene': 'ENSG00000262837', 'score': 66.86}, {'connected_gene': 'UBE2Z', 'score': 49.31}, {'connected_gene': 'FAM117A', 'score': 22.82}, {'connected_gene': 'FLJ45513', 'score': 19.26}, {'connected_gene': 'ENSG00000238804', 'score': 11.79}, {'connected_gene': 'PRAC2', 'score': 10.75}, {'connected_gene': 'PRAC1', 'score': 10.75}, {'connected_gene': 'HOXB13', 'score': 10.6}, {'connected_gene': 'CALCOCO2', 'score': 10.38}, {'connected_gene': 'NXPH3', 'score': 9.76}, {'connected_gene': 'ENSG00000263412', 'score': 9.67}, {'connected_gene': 'ENSG00000251461', 'score': 5.43}, {'connected_gene': 'ATP5MC1', 'score': 5.38}]
chr17	GH17I048728	48728468	48729263	1.67	[{'connected_gene': 'HOXB13', 'score': 550.77}, {'connected_gene': 'UBE2Z', 'score': 71.96}, {'connected_gene': 'SP2', 'score': 53.15}, {'connected_gene': 'ENSG00000264701', 'score': 42.42}, {'connected_gene': 'CDK5RAP3', 'score': 32.36}, {'connected_gene': 'SCRN2', 'score': 28.28}, {'connected_gene': 'ENSG00000266601', 'score': 21.43}, {'connected_gene': 'CBX1', 'score': 21.15}, {'connected_gene': 'ENSG00000263412', 'score': 14.55}, {'connected_gene': 'SUMO2P17', 'score': 11.97}, {'connected_gene': 'ENSG00000230532', 'score': 11.89}, {'connected_gene': 'SP2-AS1', 'score': 10.22}, {'connected_gene': 'MIR3185', 'score': 0.77}]
chr17	GH17I048897	48897492	48898744	0.66	[{'connected_gene': 'LOC100419622', 'score': 550.77}, {'connected_gene': 'UBE2Z', 'score': 18.14}, {'connected_gene': 'ENSG00000238804', 'score': 10.82}, {'connected_gene': 'ENSG00000230532', 'score': 10.73}, {'connected_gene': 'SNF8', 'score': 10.69}, {'connected_gene': 'RNU1-42P', 'score': 10.67}, {'connected_gene': 'TTLL6', 'score': 10.64}, {'connected_gene': 'PRAC2', 'score': 10.27}, {'connected_gene': 'PRAC1', 'score': 10.27}, {'connected_gene': 'HOXB13', 'score': 9.77}, {'connected_gene': 'LOC105371811', 'score': 9.68}, {'connected_gene': 'NFE2L1', 'score': 4.16}, {'connected_gene': 'ATP5MC1', 'score': 0.44}, {'connected_gene': 'SUMO2P17', 'score': 0.39}]
chr17	GH17I049053	49053515	49054032	0.43	[{'connected_gene': 'GC17P049052', 'score': 550.77}, {'connected_gene': 'ENSG00000238804', 'score': 10.61}, {'connected_gene': 'HOXB13', 'score': 9.73}, {'connected_gene': 'B4GALNT2P1', 'score': 0.29}, {'connected_gene': 'IGF2BP1', 'score': 0.22}]
chr17	GH17I048724	48724599	48724768	0.86	[{'connected_gene': 'ENSG00000273750', 'score': 550.77}, {'connected_gene': 'MIR3185', 'score': 550.77}, {'connected_gene': 'ENSG00000277542', 'score': 550.77}, {'connected_gene': 'PRAC2', 'score': 0.77}, {'connected_gene': 'HOXB13', 'score': 0.77}]
chr17	GH17I048726	48725059	48725208	0.66	[{'connected_gene': 'ENSG00000273750', 'score': 550.77}, {'connected_gene': 'MIR3185', 'score': 550.77}, {'connected_gene': 'ENSG00000277542', 'score': 550.77}, {'connected_gene': 'HOXB13', 'score': 0.77}]