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
ENST00000370584	[[99894386, 99894463], [99923049, 99923154], [99946223, 99946320], [99967857, 99969656], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100004321]]	[[99967871, 99969656], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100003915]]
ENST00000314594	[[99894427, 99894463], [99915849, 99915904], [99922639, 99922732], [99923049, 99923154], [99967857, 99969656], [99971063, 99971105], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100004651]]	[[99971072, 99971105], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100003915]]
ENST00000298999	[[99894427, 99894463], [99915849, 99915904], [99922639, 99922732], [99923049, 99923154], [99967857, 99969656], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100004654]]	[[99967871, 99969656], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100003915]]
ENST00000370586	[[99922639, 99922732], [99923049, 99923154], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100004106]]	[[99923151, 99923154], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100003915]]
NM_001256620	[[99894380, 99894463], [99923049, 99923154], [99946223, 99946320], [99967857, 99969656], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100004654]]	[[99967871, 99969656], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100003915]]
NM_001256621	[[99894380, 99894463], [99922639, 99922732], [99923049, 99923154], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100004654]]	[[99923151, 99923154], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100003915]]
NM_014472	[[99894380, 99894463], [99922639, 99922732], [99923049, 99923154], [99967857, 99969656], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100004654]]	[[99967871, 99969656], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100003915]]
NM_138469	[[99894380, 99894463], [99922639, 99922732], [99923049, 99923154], [99946223, 99946320], [99967857, 99969656], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100004654]]	[[99967871, 99969656], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100003915]]
NM_001256619	[[99894380, 99894463], [99915849, 99915904], [99922639, 99922732], [99923049, 99923154], [99967857, 99969656], [99971063, 99971105], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100004654]]	[[99967871, 99969656], [99971063, 99971105], [99991268, 99991444], [99994202, 99994273], [99995181, 99995277], [99995780, 99995921], [100003847, 100003915]]

Promoter

Chrom	Start	End	Description
chr10	99894380	99894390	CAGE_peak_2_at_C10orf28_5end
chr10	99894399	99894453	CAGE_peak_1_at_C10orf28_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I097291	97291039	97294222	2.08	[{'connected_gene': 'ARHGAP19', 'score': 564.72}, {'connected_gene': 'ARHGAP19-SLIT1', 'score': 550.77}, {'connected_gene': 'R3HCC1L', 'score': 26.06}, {'connected_gene': 'SLIT1', 'score': 18.74}, {'connected_gene': 'NPM1P26', 'score': 11.63}, {'connected_gene': 'LOXL4', 'score': 11.07}, {'connected_gene': 'ENSG00000230928', 'score': 9.89}, {'connected_gene': 'RPL12P27', 'score': 4.87}, {'connected_gene': 'ENSG00000231398', 'score': 0.37}]
chr10	GH10I098293	98293598	98294587	0.38	[{'connected_gene': 'LOXL4', 'score': 12.22}, {'connected_gene': 'SFRP5', 'score': 5.52}, {'connected_gene': 'R3HCC1L', 'score': 4.8}, {'connected_gene': 'GC10P098268', 'score': 0.31}, {'connected_gene': 'GC10M098326', 'score': 0.29}]
chr10	GH10I098223	98223874	98225678	0.31	[{'connected_gene': 'LOXL4', 'score': 10.56}, {'connected_gene': 'ENSG00000230928', 'score': 0.31}, {'connected_gene': 'GC10P098173', 'score': 0.23}, {'connected_gene': 'R3HCC1L', 'score': 0.16}]
chr10	GH10I098137	98137644	98138499	0.31	[{'connected_gene': 'LOXL4', 'score': 28.74}, {'connected_gene': 'ENSG00000230928', 'score': 15.91}, {'connected_gene': 'R3HCC1L', 'score': 0.77}, {'connected_gene': 'GC10P098173', 'score': 0.28}]
chr10	GH10I098226	98226884	98227013	0.75	[{'connected_gene': 'LOXL4', 'score': 10.41}, {'connected_gene': 'ENSG00000230928', 'score': 0.31}, {'connected_gene': 'GC10P098173', 'score': 0.23}, {'connected_gene': 'R3HCC1L', 'score': 0.16}]
chr10	GH10I098170	98170624	98170773	0.69	[{'connected_gene': 'LOXL4', 'score': 10.55}, {'connected_gene': 'GC10P098173', 'score': 0.77}, {'connected_gene': 'R3HCC1L', 'score': 0.28}]
chr10	GH10I098141	98141601	98141800	0.46	[{'connected_gene': 'LOXL4', 'score': 10.31}, {'connected_gene': 'R3HCC1L', 'score': 0.44}, {'connected_gene': 'GC10P098173', 'score': 0.29}]
chr10	GH10I097336	97336150	97338666	0.96	[{'connected_gene': 'SLIT1', 'score': 15.66}, {'connected_gene': 'R3HCC1L', 'score': 14.76}, {'connected_gene': 'NPM1P26', 'score': 14.69}, {'connected_gene': 'EXOSC1', 'score': 13.31}, {'connected_gene': 'RPL13AP5', 'score': 11.1}, {'connected_gene': 'LOXL4', 'score': 10.94}, {'connected_gene': 'MARVELD1', 'score': 10.65}, {'connected_gene': 'LCOR', 'score': 10.33}, {'connected_gene': 'TM9SF3', 'score': 10.2}, {'connected_gene': 'PGAM1', 'score': 7.63}, {'connected_gene': 'LOC105378448', 'score': 0.77}, {'connected_gene': 'FRAT2', 'score': 0.77}, {'connected_gene': 'RPL34P20', 'score': 0.22}]
chr10	GH10I097681	97681943	97691293	2.62	[{'connected_gene': 'AVPI1', 'score': 550.77}, {'connected_gene': 'MORN4', 'score': 30.88}, {'connected_gene': 'MARVELD1', 'score': 20.88}, {'connected_gene': 'ZFYVE27', 'score': 18.91}, {'connected_gene': 'MMS19', 'score': 11.47}, {'connected_gene': 'RRP12', 'score': 7.45}, {'connected_gene': 'R3HCC1L', 'score': 4.42}, {'connected_gene': 'PI4K2A', 'score': 3.76}, {'connected_gene': 'PIR31130', 'score': 0.77}, {'connected_gene': 'PIR48246', 'score': 0.39}, {'connected_gene': 'GC10M097562', 'score': 0.31}]
chr10	GH10I097639	97639841	97642491	2.44	[{'connected_gene': 'PI4K2A', 'score': 556.94}, {'connected_gene': 'R3HCC1L', 'score': 28.15}, {'connected_gene': 'MORN4', 'score': 23.89}, {'connected_gene': 'ZFYVE27', 'score': 15.88}, {'connected_gene': 'HPS1', 'score': 12.68}, {'connected_gene': 'ANKRD2', 'score': 11.81}, {'connected_gene': 'AVPI1', 'score': 11.18}, {'connected_gene': 'C10orf62', 'score': 10.96}, {'connected_gene': 'ENSG00000249967', 'score': 10.95}, {'connected_gene': 'HOGA1', 'score': 10.95}, {'connected_gene': 'MMS19', 'score': 10.49}, {'connected_gene': 'UBTD1', 'score': 10.49}, {'connected_gene': 'RRP12', 'score': 3.95}, {'connected_gene': 'PIR48481', 'score': 0.29}, {'connected_gene': 'GC10M097562', 'score': 0.19}]
chr10	GH10I097869	97869044	97870112	1.29	[{'connected_gene': 'GOLGA7B', 'score': 18.89}, {'connected_gene': 'MMS19', 'score': 12.93}, {'connected_gene': 'R3HCC1L', 'score': 12.85}, {'connected_gene': 'SFRP5', 'score': 11.08}, {'connected_gene': 'PIR47260', 'score': 0.39}, {'connected_gene': 'CRTAC1', 'score': 0.1}]
chr10	GH10I098322	98322516	98324389	1.34	[{'connected_gene': 'HPS1', 'score': 10.71}, {'connected_gene': 'LOXL4', 'score': 10.64}, {'connected_gene': 'ENSG00000230928', 'score': 10.55}, {'connected_gene': 'PYROXD2', 'score': 4.87}, {'connected_gene': 'R3HCC1L', 'score': 3.36}, {'connected_gene': 'GC10M098326', 'score': 0.77}, {'connected_gene': 'GC10P098268', 'score': 0.23}]
chr10	GH10I098259	98259621	98260673	1.24	[{'connected_gene': 'R3HCC1L', 'score': 1.76}, {'connected_gene': 'ENSG00000230928', 'score': 0.44}, {'connected_gene': 'LOXL4', 'score': 0.44}]
chr10	GH10I098132	98132873	98136052	2.05	[{'connected_gene': 'R3HCC1L', 'score': 602.13}, {'connected_gene': 'HPS1', 'score': 37.57}, {'connected_gene': 'LOXL4', 'score': 29.03}, {'connected_gene': 'EXOSC1', 'score': 24.74}, {'connected_gene': 'MMS19', 'score': 19.47}, {'connected_gene': 'MARVELD1', 'score': 18.26}, {'connected_gene': 'ENSG00000278752', 'score': 0.22}]
chr10	GH10I098313	98313688	98317527	1.29	[{'connected_gene': 'R3HCC1L', 'score': 5.62}, {'connected_gene': 'HPS1', 'score': 1.29}, {'connected_gene': 'GC10M098326', 'score': 0.39}, {'connected_gene': 'GC10P098268', 'score': 0.25}]
chr10	GH10I098162	98162929	98162988	0.5	[{'connected_gene': 'R3HCC1L', 'score': 550.31}, {'connected_gene': 'GC10P098173', 'score': 0.39}]
chr10	GH10I098163	98163224	98163283	0.5	[{'connected_gene': 'R3HCC1L', 'score': 550.31}, {'connected_gene': 'GC10P098173', 'score': 0.39}]
chr10	GH10I097569	97569965	97576477	1.86	[{'connected_gene': 'ANKRD2', 'score': 556.73}, {'connected_gene': 'MMS19', 'score': 20.83}, {'connected_gene': 'R3HCC1L', 'score': 15.3}, {'connected_gene': 'HPS1', 'score': 13.67}, {'connected_gene': 'EXOSC1', 'score': 11.56}, {'connected_gene': 'LOXL4', 'score': 11.46}, {'connected_gene': 'LCOR', 'score': 10.93}, {'connected_gene': 'RPL13AP5', 'score': 10.91}, {'connected_gene': 'MARVELD1', 'score': 10.22}, {'connected_gene': 'ENSG00000230928', 'score': 9.74}, {'connected_gene': 'MORN4', 'score': 7.47}, {'connected_gene': 'PI4K2A', 'score': 5.91}, {'connected_gene': 'HOGA1', 'score': 5.09}, {'connected_gene': 'FRAT1', 'score': 5.06}, {'connected_gene': 'SLIT1', 'score': 5.06}, {'connected_gene': 'UBTD1', 'score': 4.93}, {'connected_gene': 'RRP12', 'score': 4.45}, {'connected_gene': 'GC10M097562', 'score': 0.11}]
chr10	GH10I097736	97736233	97738904	2.07	[{'connected_gene': 'ZFYVE27', 'score': 550.77}, {'connected_gene': 'MARVELD1', 'score': 15.68}, {'connected_gene': 'R3HCC1L', 'score': 13.36}, {'connected_gene': 'HPS1', 'score': 12.68}, {'connected_gene': 'EXOSC1', 'score': 10.24}, {'connected_gene': 'MMS19', 'score': 9.73}, {'connected_gene': 'HOGA1', 'score': 5.2}, {'connected_gene': 'SFRP5', 'score': 0.29}]
chr10	GH10I097331	97331217	97336082	2.27	[{'connected_gene': 'LOC105378448', 'score': 550.77}, {'connected_gene': 'FRAT2', 'score': 550.77}, {'connected_gene': 'EXOSC1', 'score': 28.46}, {'connected_gene': 'RPL13AP5', 'score': 23.93}, {'connected_gene': 'NPM1P26', 'score': 23.33}, {'connected_gene': 'R3HCC1L', 'score': 20.94}, {'connected_gene': 'LOXL4', 'score': 20.23}, {'connected_gene': 'ENSG00000230928', 'score': 19.77}, {'connected_gene': 'TM9SF3', 'score': 19.33}, {'connected_gene': 'SLIT1', 'score': 16.59}, {'connected_gene': 'MARVELD1', 'score': 14.97}, {'connected_gene': 'ARHGAP19', 'score': 13.55}, {'connected_gene': 'LCOR', 'score': 10.67}, {'connected_gene': 'ZFYVE27', 'score': 9.75}, {'connected_gene': 'FRAT1', 'score': 0.39}]
chr10	GH10I097318	97318158	97322198	2.26	[{'connected_gene': 'FRAT1', 'score': 550.77}, {'connected_gene': 'RPL13AP5', 'score': 15.06}, {'connected_gene': 'ARHGAP19', 'score': 13.82}, {'connected_gene': 'NPM1P26', 'score': 13.46}, {'connected_gene': 'MORN4', 'score': 13.02}, {'connected_gene': 'SLIT1', 'score': 12.68}, {'connected_gene': 'EXOSC1', 'score': 11.57}, {'connected_gene': 'ENSG00000230928', 'score': 10.92}, {'connected_gene': 'LCOR', 'score': 10.68}, {'connected_gene': 'LOXL4', 'score': 10.04}, {'connected_gene': 'R3HCC1L', 'score': 9.98}, {'connected_gene': 'TM9SF3', 'score': 9.95}, {'connected_gene': 'LOC105378448', 'score': 0.39}]
chr10	GH10I097297	97297175	97299162	0.92	[{'connected_gene': 'ENSG00000277308', 'score': 550.77}, {'connected_gene': 'ARHGAP19', 'score': 14.45}, {'connected_gene': 'MMS19', 'score': 11.22}, {'connected_gene': 'R3HCC1L', 'score': 10.99}, {'connected_gene': 'RPL12P27', 'score': 0.39}]
chr10	GH10I098173	98173166	98173953	0.71	[{'connected_gene': 'GC10P098173', 'score': 550.77}, {'connected_gene': 'ENSG00000230928', 'score': 15.3}, {'connected_gene': 'LOXL4', 'score': 10.02}, {'connected_gene': 'R3HCC1L', 'score': 0.28}]
chr10	GH10I097421	97421964	97424752	1.08	[{'connected_gene': 'PIR45391', 'score': 550.77}, {'connected_gene': 'GC10M097425', 'score': 550.77}, {'connected_gene': 'MMS19', 'score': 86.49}, {'connected_gene': 'LCOR', 'score': 60.04}, {'connected_gene': 'EXOSC1', 'score': 59.38}, {'connected_gene': 'R3HCC1L', 'score': 45.44}, {'connected_gene': 'NPM1P26', 'score': 31.97}, {'connected_gene': 'TM9SF3', 'score': 23.05}, {'connected_gene': 'RPL13AP5', 'score': 21.76}, {'connected_gene': 'MARVELD1', 'score': 21.58}, {'connected_gene': 'LOXL4', 'score': 20.47}, {'connected_gene': 'ZDHHC16', 'score': 18.47}, {'connected_gene': 'MORN4', 'score': 14.48}, {'connected_gene': 'PYROXD2', 'score': 10.11}, {'connected_gene': 'ENSG00000230928', 'score': 9.74}, {'connected_gene': 'SLIT1', 'score': 7.76}, {'connected_gene': 'RRP12', 'score': 0.77}, {'connected_gene': 'GC10M097416', 'score': 0.77}, {'connected_gene': 'LOC644215', 'score': 0.77}]
chr10	GH10I098171	98171764	98172625	0.2	[{'connected_gene': 'GC10P098173', 'score': 550.77}, {'connected_gene': 'ENSG00000230928', 'score': 15.3}, {'connected_gene': 'CRTAC1', 'score': 5.12}, {'connected_gene': 'R3HCC1L', 'score': 0.28}]
chr10	GH10I098172	98172628	98172790	0.2	[{'connected_gene': 'GC10P098173', 'score': 550.77}, {'connected_gene': 'R3HCC1L', 'score': 0.28}]
chr10	GH10I098080	98080638	98081017	0.22	[{'connected_gene': 'ENSG00000230928', 'score': 7.07}, {'connected_gene': 'ENSG00000278752', 'score': 0.77}, {'connected_gene': 'R3HCC1L', 'score': 0.23}]
chr10	GH10I097676	97676304	97677348	0.92	[{'connected_gene': 'PIR48481', 'score': 550.77}, {'connected_gene': 'PIR48246', 'score': 550.77}, {'connected_gene': 'MORN4', 'score': 24.63}, {'connected_gene': 'LCOR', 'score': 13.07}, {'connected_gene': 'MMS19', 'score': 12.98}, {'connected_gene': 'R3HCC1L', 'score': 12.84}, {'connected_gene': 'ANKRD2', 'score': 7.29}, {'connected_gene': 'AVPI1', 'score': 0.39}, {'connected_gene': 'GC10M097562', 'score': 0.28}, {'connected_gene': 'PI4K2A', 'score': 0.28}]