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
ENST00000261783	[[68086514, 68086805], [68087610, 68087683], [68108902, 68109080], [68112359, 68112519], [68113360, 68113455], [68113637, 68113742], [68114763, 68114900], [68117431, 68118437]]	[[68086694, 68086805], [68087610, 68087683], [68108902, 68109080], [68112359, 68112519], [68113360, 68113455], [68113637, 68113742], [68114763, 68114900], [68117431, 68117637]]
ENST00000557120	[[68086652, 68086805], [68087610, 68087683], [68108902, 68109080], [68112359, 68112519], [68113360, 68113632]]	None
ENST00000556491	[[68086696, 68086805], [68087610, 68087683], [68108902, 68109080], [68113360, 68113457]]	None
ENST00000557319	[[68113164, 68113455], [68113637, 68113742], [68114763, 68114900], [68117431, 68117525]]	None
NM_001172	[[68086578, 68086805], [68087610, 68087683], [68108902, 68109080], [68112359, 68112519], [68113360, 68113455], [68113637, 68113742], [68114763, 68114900], [68117431, 68118437]]	[[68086694, 68086805], [68087610, 68087683], [68108902, 68109080], [68112359, 68112519], [68113360, 68113455], [68113637, 68113742], [68114763, 68114900], [68117431, 68117637]]

Promoter

Chrom	Start	End	Description
chr14	68086586	68086595	CAGE_peak_2_at_ARG2_5end
chr14	68086629	68086644	CAGE_peak_1_at_ARG2_5end
chr14	68086658	68086667	CAGE_peak_4_at_ARG2_5end
chr14	68086677	68086683	CAGE_peak_3_at_ARG2_5end
chr14	68113153	68113178	CAGE_peak_5_at_ARG2_5end
chr14	68113181	68113190	CAGE_peak_6_at_ARG2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I067573	67573724	67573873	0.58	[{'connected_gene': 'PLEKHH1', 'score': 12.33}, {'connected_gene': 'ENSG00000201529', 'score': 11.02}, {'connected_gene': 'ARG2', 'score': 11.01}, {'connected_gene': 'PIR48522', 'score': 0.39}, {'connected_gene': 'TMEM229B', 'score': 0.26}]
chr14	GH14I067579	67579903	67582528	0.51	[{'connected_gene': 'PLEKHH1', 'score': 12.08}, {'connected_gene': 'ENSG00000201529', 'score': 11.72}, {'connected_gene': 'ARG2', 'score': 11.72}, {'connected_gene': 'RN7SL369P', 'score': 11.4}, {'connected_gene': 'RDH12', 'score': 11.4}, {'connected_gene': 'PIGH', 'score': 5.18}, {'connected_gene': 'TMEM229B', 'score': 5.13}, {'connected_gene': 'PIR48522', 'score': 0.77}]
chr14	GH14I067570	67570608	67572390	0.72	[{'connected_gene': 'PLEKHH1', 'score': 16.55}, {'connected_gene': 'PLEK2', 'score': 11.66}, {'connected_gene': 'ENSG00000201529', 'score': 11.06}, {'connected_gene': 'ARG2', 'score': 11.06}, {'connected_gene': 'PIGH', 'score': 8.12}, {'connected_gene': 'PIR48522', 'score': 0.39}, {'connected_gene': 'TMEM229B', 'score': 0.28}]
chr14	GH14I067577	67577747	67579193	0.2	[{'connected_gene': 'PIGH', 'score': 18.79}, {'connected_gene': 'PLEKHH1', 'score': 12.08}, {'connected_gene': 'ENSG00000201529', 'score': 11.61}, {'connected_gene': 'ARG2', 'score': 11.6}, {'connected_gene': 'PLEK2', 'score': 11.19}, {'connected_gene': 'PIR48522', 'score': 0.44}, {'connected_gene': 'TMEM229B', 'score': 0.26}]
chr14	GH14I067575	67575365	67577033	0.38	[{'connected_gene': 'PIGH', 'score': 17.04}, {'connected_gene': 'PLEKHH1', 'score': 12.33}, {'connected_gene': 'RN7SL369P', 'score': 11.87}, {'connected_gene': 'RDH12', 'score': 11.87}, {'connected_gene': 'ENSG00000201529', 'score': 11.6}, {'connected_gene': 'ARG2', 'score': 11.6}, {'connected_gene': 'PLEK2', 'score': 11.19}, {'connected_gene': 'PIR48522', 'score': 0.44}, {'connected_gene': 'TMEM229B', 'score': 0.26}]
chr14	GH14I067526	67526704	67526993	0.92	[{'connected_gene': 'PIGH', 'score': 10.85}, {'connected_gene': 'ENSG00000201529', 'score': 10.52}, {'connected_gene': 'ARG2', 'score': 10.52}, {'connected_gene': 'PLEKHH1', 'score': 4.19}, {'connected_gene': 'TMEM229B', 'score': 0.44}, {'connected_gene': 'LOC105370542', 'score': 0.22}]
chr14	GH14I067527	67527654	67528464	0.2	[{'connected_gene': 'PIGH', 'score': 10.85}, {'connected_gene': 'ENSG00000201529', 'score': 10.53}, {'connected_gene': 'ARG2', 'score': 10.52}, {'connected_gene': 'TMEM229B', 'score': 0.44}, {'connected_gene': 'PLEKHH1', 'score': 0.44}, {'connected_gene': 'LOC105370542', 'score': 0.22}]
chr14	GH14I067692	67692866	67696393	2.5	[{'connected_gene': 'RDH11', 'score': 563.44}, {'connected_gene': 'PIGH', 'score': 10.74}, {'connected_gene': 'ARG2', 'score': 9.46}, {'connected_gene': 'RDH12', 'score': 6.3}, {'connected_gene': 'ENSG00000259502', 'score': 4.57}, {'connected_gene': 'PLEK2', 'score': 1.79}, {'connected_gene': 'ENSG00000258466', 'score': 0.77}]
chr14	GH14I067709	67709410	67710533	0.66	[{'connected_gene': 'RDH11', 'score': 13.15}, {'connected_gene': 'PIGH', 'score': 11.75}, {'connected_gene': 'ENSG00000201529', 'score': 11.0}, {'connected_gene': 'ARG2', 'score': 11.0}, {'connected_gene': 'VTI1B', 'score': 6.13}, {'connected_gene': 'RN7SL369P', 'score': 0.77}, {'connected_gene': 'RPL21P9', 'score': 0.77}, {'connected_gene': 'RDH12', 'score': 0.44}]
chr14	GH14I067635	67635570	67637010	0.96	[{'connected_gene': 'RDH11', 'score': 13.29}, {'connected_gene': 'ARG2', 'score': 4.42}, {'connected_gene': 'GC14M067653', 'score': 0.37}]
chr14	GH14I067618	67618724	67620890	2.04	[{'connected_gene': 'ARG2', 'score': 566.59}, {'connected_gene': 'PIGH', 'score': 4.79}, {'connected_gene': 'GC14M067653', 'score': 0.29}]
chr14	GH14I067666	67666142	67667913	0.89	[{'connected_gene': 'ARG2', 'score': 21.35}, {'connected_gene': 'ENSG00000201529', 'score': 12.86}, {'connected_gene': 'RDH11', 'score': 12.79}, {'connected_gene': 'PIGH', 'score': 11.76}, {'connected_gene': 'RDH12', 'score': 11.53}, {'connected_gene': 'RN7SL369P', 'score': 11.52}, {'connected_gene': 'VTI1B', 'score': 5.88}, {'connected_gene': 'GC14M067658', 'score': 0.44}, {'connected_gene': 'ENSG00000258466', 'score': 0.34}]
chr14	GH14I067668	67668086	67668888	0.59	[{'connected_gene': 'ARG2', 'score': 23.77}, {'connected_gene': 'RDH11', 'score': 13.07}, {'connected_gene': 'ENSG00000201529', 'score': 12.85}, {'connected_gene': 'PIGH', 'score': 11.76}, {'connected_gene': 'RDH12', 'score': 11.53}, {'connected_gene': 'RN7SL369P', 'score': 11.52}, {'connected_gene': 'VTI1B', 'score': 0.44}, {'connected_gene': 'GC14M067658', 'score': 0.39}, {'connected_gene': 'ENSG00000258466', 'score': 0.34}]
chr14	GH14I067761	67761684	67767136	0.82	[{'connected_gene': 'ARG2', 'score': 13.08}, {'connected_gene': 'RDH11', 'score': 8.9}, {'connected_gene': 'RN7SL213P', 'score': 0.39}, {'connected_gene': 'LOC100421541', 'score': 0.29}, {'connected_gene': 'ZFYVE26', 'score': 0.23}]
chr14	GH14I067645	67645997	67646652	0.31	[{'connected_gene': 'ARG2', 'score': 23.22}, {'connected_gene': 'RDH11', 'score': 12.81}, {'connected_gene': 'ENSG00000201529', 'score': 12.42}, {'connected_gene': 'GC14M067653', 'score': 0.44}]
chr14	GH14I067622	67622116	67624187	1.03	[{'connected_gene': 'ARG2', 'score': 21.35}, {'connected_gene': 'ENSG00000259502', 'score': 6.69}, {'connected_gene': 'GC14M067653', 'score': 0.31}]
chr14	GH14I067521	67521765	67525194	0.6	[{'connected_gene': 'TMEM229B', 'score': 12.81}, {'connected_gene': 'PIGH', 'score': 10.93}, {'connected_gene': 'ENSG00000201529', 'score': 10.57}, {'connected_gene': 'ARG2', 'score': 10.57}, {'connected_gene': 'PLEKHH1', 'score': 4.75}, {'connected_gene': 'LOC105370542', 'score': 0.23}]
chr14	GH14I067512	67512461	67515801	2	[{'connected_gene': 'TMEM229B', 'score': 563.92}, {'connected_gene': 'ENSG00000201529', 'score': 11.69}, {'connected_gene': 'ARG2', 'score': 11.68}, {'connected_gene': 'ZFYVE26', 'score': 10.24}, {'connected_gene': 'PLEKHH1', 'score': 0.37}, {'connected_gene': 'LOC105370542', 'score': 0.25}]
chr14	GH14I067679	67679601	67681496	1.1	[{'connected_gene': 'RDH12', 'score': 17.64}, {'connected_gene': 'RN7SL369P', 'score': 11.75}, {'connected_gene': 'PIGH', 'score': 11.13}, {'connected_gene': 'PLEKHH1', 'score': 10.5}, {'connected_gene': 'ARG2', 'score': 9.6}, {'connected_gene': 'ENSG00000258466', 'score': 0.44}, {'connected_gene': 'VTI1B', 'score': 0.44}, {'connected_gene': 'GC14P067688', 'score': 0.44}, {'connected_gene': 'RDH11', 'score': 0.37}]
chr14	GH14I067748	67748918	67751036	0.31	[{'connected_gene': 'RN7SL213P', 'score': 550.77}, {'connected_gene': 'ARG2', 'score': 11.09}, {'connected_gene': 'PIGH', 'score': 10.02}, {'connected_gene': 'VTI1B', 'score': 4.94}, {'connected_gene': 'ENSG00000271697', 'score': 0.39}, {'connected_gene': 'ZFYVE26', 'score': 0.2}]
chr14	GH14I067703	67703801	67704891	0.96	[{'connected_gene': 'RN7SL369P', 'score': 550.77}, {'connected_gene': 'ARG2', 'score': 20.78}, {'connected_gene': 'ZFYVE26', 'score': 17.92}, {'connected_gene': 'PIGH', 'score': 11.76}, {'connected_gene': 'ENSG00000201529', 'score': 11.01}, {'connected_gene': 'RN7SL213P', 'score': 9.95}, {'connected_gene': 'PLEK2', 'score': 9.7}, {'connected_gene': 'RDH12', 'score': 7.26}]
chr14	GH14I067673	67673352	67675832	2.01	[{'connected_gene': 'VTI1B', 'score': 550.77}, {'connected_gene': 'PIGH', 'score': 15.72}, {'connected_gene': 'RDH11', 'score': 13.1}, {'connected_gene': 'RDH12', 'score': 11.75}, {'connected_gene': 'RN7SL369P', 'score': 11.73}, {'connected_gene': 'ARG2', 'score': 9.34}, {'connected_gene': 'EIF2S1', 'score': 3.7}, {'connected_gene': 'GC14M067658', 'score': 0.37}, {'connected_gene': 'ENSG00000258466', 'score': 0.37}]
chr14	GH14I067585	67584164	67584313	0.89	[{'connected_gene': 'PIR48522', 'score': 550.77}, {'connected_gene': 'ENSG00000201529', 'score': 11.73}, {'connected_gene': 'ARG2', 'score': 11.72}, {'connected_gene': 'PLEKHH1', 'score': 11.52}, {'connected_gene': 'RDH12', 'score': 11.4}, {'connected_gene': 'RN7SL369P', 'score': 11.4}, {'connected_gene': 'PIGH', 'score': 0.37}, {'connected_gene': 'TMEM229B', 'score': 0.23}]
chr14	GH14I067587	67587910	67589822	0.59	[{'connected_gene': 'ENSG00000201529', 'score': 12.38}, {'connected_gene': 'ARG2', 'score': 12.36}, {'connected_gene': 'PLEKHH1', 'score': 11.28}, {'connected_gene': 'RDH12', 'score': 10.95}, {'connected_gene': 'RN7SL369P', 'score': 10.94}, {'connected_gene': 'PIGH', 'score': 8.33}, {'connected_gene': 'HMGB1P34', 'score': 5.89}, {'connected_gene': 'PIR48522', 'score': 0.77}]
chr14	GH14I067721	67721904	67722800	0.84	[{'connected_gene': 'ENSG00000201529', 'score': 10.99}, {'connected_gene': 'ARG2', 'score': 10.99}, {'connected_gene': 'PIGH', 'score': 10.48}, {'connected_gene': 'VTI1B', 'score': 6.08}, {'connected_gene': 'RPL21P9', 'score': 0.44}, {'connected_gene': 'ENSG00000271697', 'score': 0.39}, {'connected_gene': 'RDH12', 'score': 0.34}]
chr14	GH14I067641	67641584	67642492	0.72	[{'connected_gene': 'ENSG00000201529', 'score': 12.47}, {'connected_gene': 'ARG2', 'score': 12.47}, {'connected_gene': 'RDH12', 'score': 6.13}, {'connected_gene': 'ENSG00000259502', 'score': 5.29}, {'connected_gene': 'GC14M067653', 'score': 0.39}]
chr14	GH14I067650	67650466	67651587	0.31	[{'connected_gene': 'GC14M067653', 'score': 550.77}, {'connected_gene': 'COX7A2P1', 'score': 550.77}, {'connected_gene': 'VTI1B', 'score': 17.57}, {'connected_gene': 'ENSG00000201529', 'score': 12.44}, {'connected_gene': 'ARG2', 'score': 12.44}]
chr14	GH14I067584	67584781	67587615	0.38	[{'connected_gene': 'PIR48522', 'score': 550.77}, {'connected_gene': 'ZFYVE26', 'score': 17.24}, {'connected_gene': 'ARG2', 'score': 16.29}, {'connected_gene': 'ENSG00000201529', 'score': 11.73}, {'connected_gene': 'PLEKHH1', 'score': 11.52}, {'connected_gene': 'RN7SL369P', 'score': 11.4}, {'connected_gene': 'RDH12', 'score': 11.4}, {'connected_gene': 'PIGH', 'score': 9.28}]