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
ENST00000454222	[[91321322, 91321481], [91322712, 91322774], [91456728, 91456794], [91509368, 91509427], [91509970, 91510004]]	None
ENST00000419292	[[91500242, 91504078], [91509970, 91510016]]	[[91502907, 91504047]]
ENST00000351870	[[91502204, 91504078], [91509368, 91509427], [91509970, 91510034]]	[[91502907, 91504078], [91509368, 91509397]]
ENST00000406735	[[91502635, 91504078], [91506191, 91506292], [91509368, 91509427], [91509970, 91510006]]	[[91502907, 91504047]]
ENST00000456229	[[91503628, 91504078], [91506191, 91506240], [91509368, 91509427], [91509970, 91509993]]	[[91503628, 91504047]]
ENST00000442961	[[91503631, 91504078], [91509368, 91509427], [91509956, 91510004]]	[[91503631, 91504078], [91509368, 91509397]]
ENST00000425936	[[91503967, 91504078], [91509368, 91509977]]	[[91503967, 91504047]]
ENST00000481516	[[91506208, 91506292], [91509368, 91509753]]	None
NM_001301135	[[91502189, 91504078], [91506191, 91506292], [91509368, 91509427], [91509970, 91510034]]	[[91502907, 91504047]]
NM_006980	[[91502189, 91504078], [91509368, 91509427], [91509970, 91510034]]	[[91502907, 91504078], [91509368, 91509397]]
NM_001301134	[[91502189, 91504078], [91509970, 91510034]]	[[91502907, 91504047]]

Promoter

Chrom	Start	End	Description
chr7	91509972	91509984	CAGE_peak_3_at_MTERF_5end
chr7	91509986	91510046	CAGE_peak_1_at_MTERF_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I092423	92423601	92425800	1.49	[{'connected_gene': 'KRIT1', 'score': 29.17}, {'connected_gene': 'ENSG00000243107', 'score': 25.6}, {'connected_gene': 'FAM133B', 'score': 25.22}, {'connected_gene': 'GATAD1', 'score': 23.23}, {'connected_gene': 'VPS50', 'score': 21.53}, {'connected_gene': 'AKAP9', 'score': 15.11}, {'connected_gene': 'PEX1', 'score': 12.12}, {'connected_gene': 'CYP51A1-AS1', 'score': 10.9}, {'connected_gene': 'MTERF1', 'score': 10.82}, {'connected_gene': 'CHCHD4P1', 'score': 0.37}, {'connected_gene': 'TMBIM7P', 'score': 0.34}, {'connected_gene': 'GC07P092389', 'score': 0.28}]
chr7	GH07I091513	91513173	91513187	0.83	[{'connected_gene': 'MTERF1', 'score': 1.19}, {'connected_gene': 'LOC101927473', 'score': 0.26}, {'connected_gene': 'GC07P091446', 'score': 0.2}, {'connected_gene': 'LOC105375392', 'score': 0.08}]
chr7	GH07I091879	91879800	91881484	2.08	[{'connected_gene': 'MTERF1', 'score': 550.77}, {'connected_gene': 'AKAP9', 'score': 38.12}, {'connected_gene': 'ENSG00000243107', 'score': 37.05}, {'connected_gene': 'KRIT1', 'score': 27.88}, {'connected_gene': 'GATAD1', 'score': 27.54}, {'connected_gene': 'PEX1', 'score': 21.52}, {'connected_gene': 'CYP51A1', 'score': 11.95}, {'connected_gene': 'ANKIB1', 'score': 4.33}, {'connected_gene': 'GC07P091818', 'score': 0.21}]
chr7	GH07I091826	91826711	91826876	0.56	[{'connected_gene': 'MTERF1', 'score': 11.28}, {'connected_gene': 'GC07P091818', 'score': 0.44}]
chr7	GH07I091694	91694080	91695199	0.2	[{'connected_gene': 'CYP51A1-AS1', 'score': 4.99}, {'connected_gene': 'ENSG00000223665', 'score': 0.23}, {'connected_gene': 'GC07P091818', 'score': 0.13}, {'connected_gene': 'MTERF1', 'score': 0.09}]
chr7	GH07I092530	92530921	92537209	0.83	[{'connected_gene': 'GATAD1', 'score': 20.11}, {'connected_gene': 'KRIT1', 'score': 12.64}, {'connected_gene': 'MTERF1', 'score': 10.97}, {'connected_gene': 'FAM133B', 'score': 10.72}, {'connected_gene': 'ENSG00000243107', 'score': 10.72}, {'connected_gene': 'PEX1', 'score': 10.31}, {'connected_gene': 'ERVW-1', 'score': 10.01}, {'connected_gene': 'RBM48', 'score': 8.6}, {'connected_gene': 'GC07P092539', 'score': 0.77}]
chr7	GH07I091695	91695627	91695955	0.22	[{'connected_gene': 'LRRD1', 'score': 6.61}, {'connected_gene': 'MTERF1', 'score': 1.25}, {'connected_gene': 'ENSG00000223665', 'score': 0.23}, {'connected_gene': 'GC07P091818', 'score': 0.13}]
chr7	GH07I092178	92178467	92179952	1.4	[{'connected_gene': 'LRRD1', 'score': 554.92}, {'connected_gene': 'CYP51A1', 'score': 41.98}, {'connected_gene': 'KRIT1', 'score': 21.31}, {'connected_gene': 'ENSG00000243107', 'score': 16.64}, {'connected_gene': 'PEX1', 'score': 15.82}, {'connected_gene': 'FAM133B', 'score': 15.77}, {'connected_gene': 'GATAD1', 'score': 15.14}, {'connected_gene': 'MTERF1', 'score': 14.57}, {'connected_gene': 'AKAP9', 'score': 11.54}, {'connected_gene': 'ERVW-1', 'score': 10.59}, {'connected_gene': 'CYP51A1-AS1', 'score': 0.26}]
chr7	GH07I092681	92681228	92686168	1.16	[{'connected_gene': 'FAM133B', 'score': 25.35}, {'connected_gene': 'ENSG00000243107', 'score': 22.15}, {'connected_gene': 'KRIT1', 'score': 21.93}, {'connected_gene': 'GATAD1', 'score': 20.44}, {'connected_gene': 'PEX1', 'score': 18.78}, {'connected_gene': 'AKAP9', 'score': 14.19}, {'connected_gene': 'CDK6', 'score': 12.33}, {'connected_gene': 'LOC101927497', 'score': 12.33}, {'connected_gene': 'MTERF1', 'score': 9.92}, {'connected_gene': 'ENSG00000244055', 'score': 4.11}, {'connected_gene': 'GC07M092702', 'score': 0.37}, {'connected_gene': 'RNU6-10P', 'score': 0.37}, {'connected_gene': 'GC07M092611', 'score': 0.2}]
chr7	GH07I092588	92588705	92591036	2.31	[{'connected_gene': 'FAM133B', 'score': 567.85}, {'connected_gene': 'PEX1', 'score': 32.27}, {'connected_gene': 'ENSG00000243107', 'score': 31.89}, {'connected_gene': 'KRIT1', 'score': 27.59}, {'connected_gene': 'GATAD1', 'score': 21.38}, {'connected_gene': 'RBM48', 'score': 17.65}, {'connected_gene': 'ANKIB1', 'score': 15.02}, {'connected_gene': 'AKAP9', 'score': 14.16}, {'connected_gene': 'MTERF1', 'score': 9.74}, {'connected_gene': 'GC07P092561', 'score': 0.31}]
chr7	GH07I091945	91945047	91947118	1.01	[{'connected_gene': 'CYP51A1', 'score': 14.46}, {'connected_gene': 'MTERF1', 'score': 11.15}, {'connected_gene': 'ANKIB1', 'score': 4.47}, {'connected_gene': 'GC07M091897', 'score': 0.77}, {'connected_gene': 'AKAP9', 'score': 0.44}, {'connected_gene': 'GC07P091998', 'score': 0.23}]
chr7	GH07I091949	91949289	91949976	0.62	[{'connected_gene': 'CYP51A1', 'score': 25.3}, {'connected_gene': 'MTERF1', 'score': 11.15}, {'connected_gene': 'GC07M091897', 'score': 0.44}, {'connected_gene': 'AKAP9', 'score': 0.44}, {'connected_gene': 'GC07P091998', 'score': 0.25}]
chr7	GH07I091759	91759111	91759812	0.73	[{'connected_gene': 'CYP51A1', 'score': 8.57}, {'connected_gene': 'GC07P091818', 'score': 0.22}, {'connected_gene': 'ENSG00000223665', 'score': 0.13}, {'connected_gene': 'MTERF1', 'score': 0.13}]
chr7	GH07I092829	92829398	92838969	2.79	[{'connected_gene': 'CDK6', 'score': 563.07}, {'connected_gene': 'ENSG00000243107', 'score': 24.07}, {'connected_gene': 'FAM133B', 'score': 22.98}, {'connected_gene': 'KRIT1', 'score': 22.06}, {'connected_gene': 'GATAD1', 'score': 15.26}, {'connected_gene': 'PEX1', 'score': 12.42}, {'connected_gene': 'MTERF1', 'score': 12.25}, {'connected_gene': 'AKAP9', 'score': 9.71}, {'connected_gene': 'SAMD9', 'score': 1.85}, {'connected_gene': 'LOC101927497', 'score': 0.77}, {'connected_gene': 'GC07M092702', 'score': 0.12}, {'connected_gene': 'RNU6-10P', 'score': 0.12}]
chr7	GH07I091850	91850567	91850736	0.54	[{'connected_gene': 'AKAP9', 'score': 19.9}, {'connected_gene': 'GATAD1', 'score': 15.24}, {'connected_gene': 'ENSG00000243107', 'score': 14.4}, {'connected_gene': 'KRIT1', 'score': 13.3}, {'connected_gene': 'MTERF1', 'score': 12.52}, {'connected_gene': 'PEX1', 'score': 12.38}, {'connected_gene': 'FAM133B', 'score': 12.09}, {'connected_gene': 'GC07P091818', 'score': 0.29}]
chr7	GH07I091721	91720551	91721149	0.31	[{'connected_gene': 'ENSG00000223665', 'score': 0.18}, {'connected_gene': 'GC07P091818', 'score': 0.15}, {'connected_gene': 'MTERF1', 'score': 0.1}]
chr7	GH07I091771	91771838	91773071	0.2	[{'connected_gene': 'GC07P091818', 'score': 0.25}, {'connected_gene': 'MTERF1', 'score': 0.14}, {'connected_gene': 'ENSG00000223665', 'score': 0.13}]
chr7	GH07I091720	91720366	91720515	0.38	[{'connected_gene': 'ENSG00000223665', 'score': 0.18}, {'connected_gene': 'GC07P091818', 'score': 0.15}, {'connected_gene': 'MTERF1', 'score': 0.1}]