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
ENST00000306862	[[43486802, 43487213], [43488010, 43488051], [43490732, 43490831], [43492316, 43492411], [43492821, 43492992], [43493644, 43493714], [43494611, 43494703], [43502473, 43502597], [43503766, 43503862], [43505849, 43506496], [43508678, 43508768], [43509246, 43509477], [43514907, 43515247]]	[[43487016, 43487213], [43488010, 43488051], [43490732, 43490831], [43492316, 43492411], [43492821, 43492992], [43493644, 43493714], [43494611, 43494703], [43502473, 43502597], [43503766, 43503862], [43505849, 43506496], [43508678, 43508768], [43509246, 43509441]]
ENST00000506213	[[43490430, 43490831], [43492316, 43492411], [43492821, 43492992], [43493644, 43493714], [43494611, 43494707]]	None
ENST00000503655	[[43493650, 43493714], [43494611, 43494703], [43503766, 43503862], [43505849, 43506108]]	[[43494678, 43494703], [43503766, 43503862], [43505849, 43506108]]
ENST00000509489	[[43503766, 43503862], [43505849, 43506496], [43514907, 43515126]]	[[43503766, 43503862], [43505849, 43506439]]
ENST00000514462	[[43505651, 43506496], [43508678, 43508768], [43514907, 43515180]]	None
NM_198566	[[43486802, 43487213], [43488010, 43488051], [43490732, 43490831], [43492316, 43492411], [43492821, 43492992], [43493644, 43493714], [43494611, 43494703], [43502473, 43502597], [43503766, 43503862], [43505849, 43506496], [43508678, 43508768], [43509246, 43509477], [43514907, 43515273]]	[[43487016, 43487213], [43488010, 43488051], [43490732, 43490831], [43492316, 43492411], [43492821, 43492992], [43493644, 43493714], [43494611, 43494703], [43502473, 43502597], [43503766, 43503862], [43505849, 43506496], [43508678, 43508768], [43509246, 43509441]]

Promoter

Chrom	Start	End	Description
chr5	43515125	43515164	CAGE_peak_3_at_C5orf34_5end
chr5	43515169	43515229	CAGE_peak_2_at_C5orf34_5end
chr5	43515231	43515274	CAGE_peak_1_at_C5orf34_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I043482	43482216	43487798	2.1	[{'connected_gene': 'TMEM267', 'score': 588.89}, {'connected_gene': 'ENSG00000249492', 'score': 560.98}, {'connected_gene': 'ZNF131', 'score': 63.79}, {'connected_gene': 'EEF1A1P19', 'score': 39.31}, {'connected_gene': 'RPL29P12', 'score': 23.86}, {'connected_gene': 'C5orf34', 'score': 14.46}, {'connected_gene': 'NNT', 'score': 13.17}, {'connected_gene': 'CCL28', 'score': 12.7}, {'connected_gene': 'HMGCS1', 'score': 10.55}, {'connected_gene': 'ENSG00000248240', 'score': 8.57}]
chr5	GH05I043480	43480477	43480711	0.39	[{'connected_gene': 'C5orf34', 'score': 12.96}, {'connected_gene': 'ENSG00000248240', 'score': 10.45}, {'connected_gene': 'ENSG00000248554', 'score': 10.0}, {'connected_gene': 'ENSG00000249492', 'score': 0.77}, {'connected_gene': 'TMEM267', 'score': 0.77}, {'connected_gene': 'CCL28', 'score': 0.2}]
chr5	GH05I043191	43191720	43194537	1.99	[{'connected_gene': 'NIM1K', 'score': 550.77}, {'connected_gene': 'ZNF131', 'score': 26.51}, {'connected_gene': 'TMEM267', 'score': 23.58}, {'connected_gene': 'EEF1A1P19', 'score': 23.06}, {'connected_gene': 'ENSG00000249492', 'score': 23.04}, {'connected_gene': 'RPL29P12', 'score': 21.61}, {'connected_gene': 'C5orf34', 'score': 21.44}, {'connected_gene': 'LOC153684', 'score': 19.0}, {'connected_gene': 'AMD1P3', 'score': 12.72}, {'connected_gene': 'PAIP1', 'score': 12.27}, {'connected_gene': 'SERBP1P6', 'score': 12.14}, {'connected_gene': 'ENSG00000272382', 'score': 10.47}, {'connected_gene': 'ANXA2R', 'score': 10.17}, {'connected_gene': 'LOC100419037', 'score': 0.39}]
chr5	GH05I043554	43554770	43557978	2.04	[{'connected_gene': 'PAIP1', 'score': 550.77}, {'connected_gene': 'NNT', 'score': 24.58}, {'connected_gene': 'C5orf34', 'score': 21.91}, {'connected_gene': 'ENSG00000249492', 'score': 19.54}, {'connected_gene': 'ENSG00000248240', 'score': 16.59}, {'connected_gene': 'EEF1A1P19', 'score': 12.85}, {'connected_gene': 'NNT-AS1', 'score': 12.14}, {'connected_gene': 'RPL29P12', 'score': 11.68}, {'connected_gene': 'FGF10-AS1', 'score': 10.76}, {'connected_gene': 'LOC153684', 'score': 10.7}, {'connected_gene': 'ENSG00000272382', 'score': 10.4}, {'connected_gene': 'ANXA2R', 'score': 10.09}, {'connected_gene': 'ENSG00000248554', 'score': 9.95}, {'connected_gene': 'ZNF131', 'score': 9.76}, {'connected_gene': 'CCL28', 'score': 7.69}]
chr5	GH05I043513	43513199	43516253	2.06	[{'connected_gene': 'ENSG00000248240', 'score': 559.3}, {'connected_gene': 'C5orf34', 'score': 550.77}, {'connected_gene': 'ZNF131', 'score': 31.92}, {'connected_gene': 'EEF1A1P19', 'score': 22.77}, {'connected_gene': 'RPL29P12', 'score': 20.96}, {'connected_gene': 'ENSG00000249492', 'score': 20.24}, {'connected_gene': 'NNT', 'score': 13.5}, {'connected_gene': 'LOC648987', 'score': 11.44}, {'connected_gene': 'ANXA2R', 'score': 10.23}, {'connected_gene': 'ENSG00000272382', 'score': 9.95}, {'connected_gene': 'ENSG00000248554', 'score': 0.77}, {'connected_gene': 'LOC105374749', 'score': 0.77}]