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
ENST00000295225	[[95963051, 95963201], [95976102, 95976268], [96040043, 96040168], [96040595, 96040665], [96040885, 96040956], [96047343, 96047451], [96048124, 96048229], [96048979, 96049042], [96049749, 96051825]]	[[95963186, 95963201], [95976102, 95976268], [96040043, 96040168], [96040595, 96040665], [96040885, 96040956], [96047343, 96047451], [96048124, 96048229], [96048979, 96049042], [96049749, 96049797]]
ENST00000486055	[[95963074, 95963201], [95964430, 95964868]]	None
ENST00000475491	[[95963085, 95963201], [95976102, 95979644]]	None
ENST00000461336	[[95963094, 95963201], [95968791, 95969251]]	None
ENST00000377181	[[95963094, 95963201], [96020784, 96021030], [96040043, 96040168], [96040595, 96040665], [96040885, 96040956], [96047343, 96047451], [96048124, 96048229], [96048979, 96049042], [96049749, 96051825]]	None
ENST00000360990	[[95975969, 95975984], [95976102, 95976268], [96040043, 96040168], [96040661, 96040665], [96040885, 96040956], [96047343, 96047451], [96048124, 96048229], [96048979, 96049042], [96049749, 96051824]]	[[95975969, 95975984], [95976102, 95976268], [96040043, 96040168], [96040661, 96040665], [96040885, 96040956], [96047343, 96047451], [96048124, 96048229], [96048979, 96049042], [96049749, 96049797]]
ENST00000468529	[[96012475, 96012870], [96040043, 96040168], [96040595, 96040665], [96040885, 96040956], [96047343, 96047451], [96048124, 96048229], [96048979, 96049042], [96049749, 96049797]]	[[96012767, 96012870], [96040043, 96040168], [96040595, 96040665], [96040885, 96040956], [96047343, 96047451], [96048124, 96048229], [96048979, 96049042], [96049749, 96049797]]
NM_013434	[[95963071, 95963201], [95976102, 95976268], [96040043, 96040168], [96040595, 96040665], [96040885, 96040956], [96047343, 96047451], [96048124, 96048229], [96048979, 96049042], [96049749, 96051825]]	[[95963186, 95963201], [95976102, 95976268], [96040043, 96040168], [96040595, 96040665], [96040885, 96040956], [96047343, 96047451], [96048124, 96048229], [96048979, 96049042], [96049749, 96049797]]
NM_001034914	[[96012767, 96012870], [96040043, 96040168], [96040595, 96040665], [96040885, 96040956], [96047343, 96047451], [96048124, 96048229], [96048979, 96049042], [96049749, 96051825]]	[[96012767, 96012870], [96040043, 96040168], [96040595, 96040665], [96040885, 96040956], [96047343, 96047451], [96048124, 96048229], [96048979, 96049042], [96049749, 96049797]]

Promoter

Chrom	Start	End	Description
chr2	95963052	95963106	CAGE_peak_1_at_KCNIP3_5end
chr2	95963120	95963136	CAGE_peak_2_at_KCNIP3_5end
chr2	96012277	96012290	CAGE_peak_5_at_KCNIP3_5end
chr2	96012298	96012317	CAGE_peak_6_at_KCNIP3_5end
chr2	96012353	96012378	CAGE_peak_4_at_KCNIP3_5end
chr2	96012397	96012417	CAGE_peak_3_at_KCNIP3_5end
chr2	96012757	96012779	CAGE_peak_8_at_KCNIP3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I096263	96263980	96267740	2.28	[{'connected_gene': 'CIAO1', 'score': 565.79}, {'connected_gene': 'TMEM127', 'score': 550.77}, {'connected_gene': 'SNRNP200', 'score': 46.94}, {'connected_gene': 'KANSL3', 'score': 14.5}, {'connected_gene': 'ENSG00000230747', 'score': 11.45}, {'connected_gene': 'ITPRIPL1', 'score': 11.45}, {'connected_gene': 'CNNM3', 'score': 11.42}, {'connected_gene': 'ANKRD36', 'score': 11.18}, {'connected_gene': 'NCAPH', 'score': 11.17}, {'connected_gene': 'ASTL', 'score': 11.07}, {'connected_gene': 'DUSP2', 'score': 10.74}, {'connected_gene': 'STARD7-AS1', 'score': 10.21}, {'connected_gene': 'LMAN2L', 'score': 10.13}, {'connected_gene': 'KCNIP3', 'score': 5.05}, {'connected_gene': 'GC02M096255', 'score': 0.39}, {'connected_gene': 'PIR39280', 'score': 0.39}]
chr2	GH02I096202	96202866	96204436	0.89	[{'connected_gene': 'CIAO1', 'score': 7.58}, {'connected_gene': 'KCNIP3', 'score': 3.88}, {'connected_gene': 'STARD7-AS1', 'score': 0.77}, {'connected_gene': 'STARD7', 'score': 0.44}, {'connected_gene': 'GC02P096183', 'score': 0.34}]
chr2	GH02I095000	95000326	95002870	0.31	[{'connected_gene': 'ZNF514', 'score': 17.49}, {'connected_gene': 'MAL', 'score': 12.69}, {'connected_gene': 'ENSG00000233850', 'score': 12.67}, {'connected_gene': 'KCNIP3', 'score': 4.3}, {'connected_gene': 'RN7SL575P', 'score': 0.77}, {'connected_gene': 'ENSG00000235186', 'score': 0.44}]
chr2	GH02I095384	95384245	95386531	0.68	[{'connected_gene': 'ZNF514', 'score': 10.45}, {'connected_gene': 'FAHD2A', 'score': 0.37}, {'connected_gene': 'FABP7P2', 'score': 0.37}, {'connected_gene': 'KCNIP3', 'score': 0.17}]
chr2	GH02I095038	95038367	95038651	0.84	[{'connected_gene': 'ZNF514', 'score': 13.56}, {'connected_gene': 'LOC344065', 'score': 9.9}, {'connected_gene': 'KCNIP3', 'score': 4.33}, {'connected_gene': 'MAL', 'score': 3.53}, {'connected_gene': 'ENSG00000233850', 'score': 0.39}, {'connected_gene': 'ENSG00000231062', 'score': 0.39}]
chr2	GH02I095068	95068352	95070371	0.71	[{'connected_gene': 'ZNF514', 'score': 66.63}, {'connected_gene': 'KCNIP3', 'score': 23.98}, {'connected_gene': 'MAL', 'score': 12.06}, {'connected_gene': 'ENSG00000233850', 'score': 12.06}, {'connected_gene': 'ANKRD36C', 'score': 10.3}, {'connected_gene': 'GPAT2P1', 'score': 8.27}, {'connected_gene': 'LOC105373488', 'score': 0.44}, {'connected_gene': 'ENSG00000231062', 'score': 0.37}]
chr2	GH02I095079	95079081	95080053	0.62	[{'connected_gene': 'ZNF514', 'score': 18.6}, {'connected_gene': 'KCNIP3', 'score': 16.75}, {'connected_gene': 'LOC105373488', 'score': 0.77}, {'connected_gene': 'MRPS5', 'score': 0.2}]
chr2	GH02I095071	95071532	95073124	0.2	[{'connected_gene': 'ZNF514', 'score': 22.82}, {'connected_gene': 'KCNIP3', 'score': 22.31}, {'connected_gene': 'LOC105373488', 'score': 0.77}, {'connected_gene': 'ENSG00000231062', 'score': 0.37}]
chr2	GH02I095293	95293569	95295527	0.2	[{'connected_gene': 'ZNF514', 'score': 13.87}, {'connected_gene': 'PROM2', 'score': 4.2}, {'connected_gene': 'KCNIP3', 'score': 0.77}]
chr2	GH02I095285	95285912	95290189	0.46	[{'connected_gene': 'ZNF514', 'score': 19.93}, {'connected_gene': 'PROM2', 'score': 4.26}, {'connected_gene': 'KCNIP3', 'score': 0.44}]
chr2	GH02I095024	95024201	95024800	0.77	[{'connected_gene': 'MAL', 'score': 553.33}, {'connected_gene': 'GPAT2P1', 'score': 5.03}, {'connected_gene': 'KCNIP3', 'score': 4.86}, {'connected_gene': 'TRIM43B', 'score': 1.56}, {'connected_gene': 'RN7SL575P', 'score': 0.34}]
chr2	GH02I096161	96161391	96165489	1.54	[{'connected_gene': 'ASTL', 'score': 13.1}, {'connected_gene': 'ADRA2B', 'score': 11.88}, {'connected_gene': 'ITPRIPL1', 'score': 11.77}, {'connected_gene': 'STARD7-AS1', 'score': 11.64}, {'connected_gene': 'STARD7', 'score': 11.63}, {'connected_gene': 'ENSG00000230747', 'score': 10.36}, {'connected_gene': 'KCNIP3', 'score': 6.55}, {'connected_gene': 'DUSP2', 'score': 5.65}, {'connected_gene': 'ARID5A', 'score': 1.81}, {'connected_gene': 'KANSL3', 'score': 1.54}, {'connected_gene': 'ENSG00000228873', 'score': 0.37}, {'connected_gene': 'GC02P096183', 'score': 0.37}]
chr2	GH02I095259	95259341	95260866	0.49	[{'connected_gene': 'KCNIP3', 'score': 22.51}, {'connected_gene': 'ZNF514', 'score': 14.92}, {'connected_gene': 'PIR57819', 'score': 0.39}, {'connected_gene': 'PIR51419', 'score': 0.26}, {'connected_gene': 'LOC344065', 'score': 0.23}]
chr2	GH02I095033	95033495	95037088	0.64	[{'connected_gene': 'KCNIP3', 'score': 15.44}, {'connected_gene': 'ZNF514', 'score': 8.52}, {'connected_gene': 'CYP4F32P', 'score': 3.77}, {'connected_gene': 'MAL', 'score': 0.44}, {'connected_gene': 'ENSG00000233850', 'score': 0.44}, {'connected_gene': 'ENSG00000231062', 'score': 0.37}]
chr2	GH02I095061	95061580	95063989	1.15	[{'connected_gene': 'KCNIP3', 'score': 24.01}, {'connected_gene': 'GPAT2P1', 'score': 8.4}, {'connected_gene': 'ENSG00000231062', 'score': 0.44}, {'connected_gene': 'LOC105373488', 'score': 0.39}]
chr2	GH02I095019	95019916	95021367	0.69	[{'connected_gene': 'KCNIP3', 'score': 19.93}, {'connected_gene': 'ENSG00000231062', 'score': 12.5}, {'connected_gene': 'MAL', 'score': 0.44}, {'connected_gene': 'RN7SL575P', 'score': 0.37}]
chr2	GH02I095040	95040596	95044118	0.92	[{'connected_gene': 'KCNIP3', 'score': 15.91}, {'connected_gene': 'ENSG00000231062', 'score': 0.39}, {'connected_gene': 'MAL', 'score': 0.37}, {'connected_gene': 'ENSG00000233850', 'score': 0.37}]
chr2	GH02I095345	95345039	95347407	1.91	[{'connected_gene': 'KCNIP3', 'score': 589.64}, {'connected_gene': 'LOC344065', 'score': 22.63}, {'connected_gene': 'ENSG00000273305', 'score': 14.59}, {'connected_gene': 'ENSG00000236431', 'score': 9.85}, {'connected_gene': 'PROM2', 'score': 7.36}, {'connected_gene': 'GC02P095355', 'score': 0.44}, {'connected_gene': 'PIR58224', 'score': 0.37}]
chr2	GH02I095320	95320255	95323136	0.31	[{'connected_gene': 'KCNIP3', 'score': 28.51}, {'connected_gene': 'LINC00342', 'score': 3.62}, {'connected_gene': 'PIR58224', 'score': 0.44}]
chr2	GH02I095300	95300906	95304639	0.63	[{'connected_gene': 'KCNIP3', 'score': 28.7}, {'connected_gene': 'PROM2', 'score': 12.91}, {'connected_gene': 'ZNF514', 'score': 11.33}, {'connected_gene': 'PIR58224', 'score': 0.31}]
chr2	GH02I095314	95314927	95318353	1.08	[{'connected_gene': 'KCNIP3', 'score': 32.82}, {'connected_gene': 'PROM2', 'score': 2.83}, {'connected_gene': 'TRIM43B', 'score': 2.82}, {'connected_gene': 'PIR58224', 'score': 0.39}]
chr2	GH02I095298	95297201	95297400	1.01	[{'connected_gene': 'KCNIP3', 'score': 550.77}, {'connected_gene': 'PROM2', 'score': 0.34}]
chr2	GH02I095308	95308133	95309802	0.46	[{'connected_gene': 'KCNIP3', 'score': 29.07}, {'connected_gene': 'PROM2', 'score': 12.89}, {'connected_gene': 'PIR58224', 'score': 0.37}]
chr2	GH02I095292	95292654	95293357	0.66	[{'connected_gene': 'KCNIP3', 'score': 0.77}, {'connected_gene': 'PROM2', 'score': 0.37}]
chr2	GH02I095296	95296131	95296421	0.58	[{'connected_gene': 'KCNIP3', 'score': 552.5}, {'connected_gene': 'TRIM43', 'score': 2.9}, {'connected_gene': 'PROM2', 'score': 0.34}]
chr2	GH02I095330	95330037	95331992	0.63	[{'connected_gene': 'KCNIP3', 'score': 30.46}, {'connected_gene': 'PIR58224', 'score': 0.77}, {'connected_gene': 'GC02P095355', 'score': 0.34}]
chr2	GH02I095333	95333025	95336262	0.87	[{'connected_gene': 'KCNIP3', 'score': 31.27}, {'connected_gene': 'PIR58224', 'score': 0.44}, {'connected_gene': 'GC02P095355', 'score': 0.34}]
chr2	GH02I095348	95348553	95349591	0.38	[{'connected_gene': 'KCNIP3', 'score': 31.28}, {'connected_gene': 'GC02P095355', 'score': 0.44}, {'connected_gene': 'PIR58224', 'score': 0.34}]
chr2	GH02I095297	95297601	95297800	0.4	[{'connected_gene': 'KCNIP3', 'score': 550.77}, {'connected_gene': 'PIR58224', 'score': 0.29}]
chr2	GH02I096245	96245165	96247800	1.45	[{'connected_gene': 'SNRNP200', 'score': 33.79}, {'connected_gene': 'KANSL3', 'score': 17.69}, {'connected_gene': 'GPAT2', 'score': 15.11}, {'connected_gene': 'TMEM127', 'score': 13.45}, {'connected_gene': 'ANKRD36', 'score': 13.08}, {'connected_gene': 'LMAN2L', 'score': 12.25}, {'connected_gene': 'CNNM3', 'score': 11.55}, {'connected_gene': 'SEMA4C', 'score': 10.54}, {'connected_gene': 'ARID5A', 'score': 6.86}, {'connected_gene': 'KCNIP3', 'score': 6.34}, {'connected_gene': 'DUSP2', 'score': 3.8}, {'connected_gene': 'GC02M096251', 'score': 0.77}, {'connected_gene': 'PIR52980', 'score': 0.39}]
chr2	GH02I095273	95273696	95276300	1.49	[{'connected_gene': 'PROM2', 'score': 550.77}, {'connected_gene': 'ZNF514', 'score': 5.66}, {'connected_gene': 'KCNIP3', 'score': 0.34}]
chr2	GH02I095304	95304745	95304874	0.4	[{'connected_gene': 'PROM2', 'score': 12.89}, {'connected_gene': 'KCNIP3', 'score': 0.44}, {'connected_gene': 'PIR58224', 'score': 0.34}]
chr2	GH02I095305	95305753	95305902	0.8	[{'connected_gene': 'PROM2', 'score': 12.89}, {'connected_gene': 'KCNIP3', 'score': 0.44}, {'connected_gene': 'PIR58224', 'score': 0.34}]
chr2	GH02I095277	95277319	95278837	0.82	[{'connected_gene': 'PROM2', 'score': 0.77}, {'connected_gene': 'KCNIP3', 'score': 0.37}]
chr2	GH02I095306	95306365	95306699	0.42	[{'connected_gene': 'PROM2', 'score': 12.89}, {'connected_gene': 'GPAT2', 'score': 4.28}, {'connected_gene': 'KCNIP3', 'score': 2.54}, {'connected_gene': 'PIR58224', 'score': 0.34}]
chr2	GH02I095073	95073397	95077787	1.29	[{'connected_gene': 'LOC105373488', 'score': 550.77}, {'connected_gene': 'KCNIP3', 'score': 23.88}, {'connected_gene': 'ENSG00000231062', 'score': 11.79}, {'connected_gene': 'TEKT4', 'score': 4.52}, {'connected_gene': 'MRPS5', 'score': 0.19}]
chr2	GH02I095053	95053850	95054933	0.46	[{'connected_gene': 'ENSG00000231062', 'score': 550.77}, {'connected_gene': 'KCNIP3', 'score': 20.88}, {'connected_gene': 'MAL', 'score': 12.63}, {'connected_gene': 'ENSG00000233850', 'score': 12.63}, {'connected_gene': 'ZNF514', 'score': 6.22}, {'connected_gene': 'LOC105373488', 'score': 0.34}]