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

Promoter

Chrom	Start	End	Description
chr3	190231744	190231761	CAGE_peak_4_at_IL1RAP_5end
chr3	190231855	190231888	CAGE_peak_1_at_IL1RAP_5end
chr3	190231891	190231903	CAGE_peak_2_at_IL1RAP_5end
chr3	190281229	190281270	CAGE_peak_9_at_IL1RAP_5end
chr3	190333071	190333084	CAGE_peak_6_at_IL1RAP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I190696	190696992	190697112	0.33	[{'connected_gene': 'IL1RAP', 'score': 11.94}, {'connected_gene': 'CLDN1', 'score': 2.66}, {'connected_gene': 'LINC02013', 'score': 0.77}, {'connected_gene': 'ENSG00000273370', 'score': 0.28}]
chr3	GH03I190530	190530738	190536191	1.54	[{'connected_gene': 'IL1RAP', 'score': 6.24}, {'connected_gene': 'OSTN', 'score': 5.2}, {'connected_gene': 'CLDN1', 'score': 2.72}, {'connected_gene': 'GCNT1P3', 'score': 0.16}]
chr3	GH03I190512	190512890	190518346	2.41	[{'connected_gene': 'IL1RAP', 'score': 550.77}, {'connected_gene': 'TMEM207', 'score': 9.65}, {'connected_gene': 'CCDC50', 'score': 4.74}, {'connected_gene': 'GC03P190507', 'score': 0.44}, {'connected_gene': 'GCNT1P3', 'score': 0.14}]
chr3	GH03I190446	190445356	190445497	0.2	[{'connected_gene': 'IL1RAP', 'score': 10.31}, {'connected_gene': 'TMEM207', 'score': 0.77}, {'connected_gene': 'CLDN16', 'score': 0.13}]
chr3	GH03I190444	190444652	190444801	0.2	[{'connected_gene': 'IL1RAP', 'score': 10.31}, {'connected_gene': 'TMEM207', 'score': 0.44}, {'connected_gene': 'CLDN16', 'score': 0.13}]
chr3	GH03I190671	190671274	190672209	0.38	[{'connected_gene': 'IL1RAP', 'score': 11.2}, {'connected_gene': 'ENSG00000273370', 'score': 0.39}, {'connected_gene': 'LINC02013', 'score': 0.31}]
chr3	GH03I190542	190542550	190543585	0.4	[{'connected_gene': 'IL1RAP', 'score': 11.14}, {'connected_gene': 'GCNT1P3', 'score': 0.18}]
chr3	GH03I190538	190538047	190538106	0.5	[{'connected_gene': 'IL1RAP', 'score': 562.43}, {'connected_gene': 'GCNT1P3', 'score': 0.17}]
chr3	GH03I190614	190614401	190614600	0.31	[{'connected_gene': 'IL1RAP', 'score': 11.85}, {'connected_gene': 'GCNT1P3', 'score': 0.39}]
chr3	GH03I190565	190565305	190568440	1.41	[{'connected_gene': 'IL1RAP', 'score': 11.43}, {'connected_gene': 'GCNT1P3', 'score': 0.22}]
chr3	GH03I190552	190552648	190553796	0.43	[{'connected_gene': 'IL1RAP', 'score': 11.99}, {'connected_gene': 'GCNT1P3', 'score': 0.19}]
chr3	GH03I190526	190526942	190527637	1.02	[{'connected_gene': 'IL1RAP', 'score': 0.39}, {'connected_gene': 'GCNT1P3', 'score': 0.15}]
chr3	GH03I190590	190590507	190592499	0.59	[{'connected_gene': 'IL1RAP', 'score': 19.85}, {'connected_gene': 'GCNT1P3', 'score': 0.29}]
chr3	GH03I190616	190616120	190619401	1.44	[{'connected_gene': 'IL1RAP', 'score': 23.45}, {'connected_gene': 'GCNT1P3', 'score': 0.44}]
chr3	GH03I190594	190594530	190595701	0.51	[{'connected_gene': 'IL1RAP', 'score': 19.5}, {'connected_gene': 'GCNT1P3', 'score': 0.31}]
chr3	GH03I190524	190524545	190526116	0.38	[{'connected_gene': 'CCDC50', 'score': 5.44}, {'connected_gene': 'IL1RAP', 'score': 0.39}, {'connected_gene': 'GC03P190507', 'score': 0.37}, {'connected_gene': 'GCNT1P3', 'score': 0.15}]
chr3	GH03I190445	190445925	190450345	1.42	[{'connected_gene': 'TMEM207', 'score': 550.77}, {'connected_gene': 'IL1RAP', 'score': 10.21}, {'connected_gene': 'CLDN16', 'score': 5.02}]
chr3	GH03I190701	190701172	190701281	0.87	[{'connected_gene': 'LINC02013', 'score': 550.77}, {'connected_gene': 'IL1RAP', 'score': 11.33}, {'connected_gene': 'CCT6P4', 'score': 0.39}]
chr3	GH03I190584	190584745	190588023	1.3	[{'connected_gene': 'GCNT1P3', 'score': 0.28}, {'connected_gene': 'IL1RAP', 'score': 0.19}]
chr3	GH03I190578	190578869	190579960	0.2	[{'connected_gene': 'GCNT1P3', 'score': 0.25}, {'connected_gene': 'IL1RAP', 'score': 0.2}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000412504	[[190231839, 190232084], [190282071, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190366126, 190369307]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190366126, 190366494]]
ENST00000072516	[[190231839, 190232008], [190282077, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190366126, 190369308]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190366126, 190366494]]
ENST00000443369	[[190231839, 190232008], [190282077, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190373677, 190374396]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190373677, 190374396]]
ENST00000439062	[[190231847, 190232008], [190268130, 190268294], [190273918, 190274005], [190282077, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190366126, 190366612]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190366126, 190366494]]
ENST00000447382	[[190231847, 190232008], [190273918, 190274005], [190282077, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190366126, 190369301]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190366126, 190366494]]
ENST00000422625	[[190231875, 190232008], [190272421, 190272482], [190282077, 190282142], [190321916, 190322191]]	[[190282078, 190282142], [190321916, 190322191]]
ENST00000422485	[[190231886, 190232008], [190273918, 190274005], [190282077, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190348074]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347307]]
ENST00000434491	[[190231890, 190232008], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190348033]]	[[190326856, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347307]]
ENST00000422940	[[190231890, 190232008], [190282077, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190348074]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347307]]
ENST00000413869	[[190231890, 190232008], [190273918, 190274005], [190282077, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190362036, 190362186], [190363487, 190363631], [190366126, 190369301]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190362036, 190362175]]
ENST00000342550	[[190231890, 190232008], [190282077, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190362036, 190362186], [190363487, 190363631], [190366126, 190369301]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190362036, 190362175]]
ENST00000317757	[[190231890, 190232008], [190273918, 190274005], [190282077, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190373677, 190375843]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190373677, 190374396]]
ENST00000453359	[[190281234, 190281321], [190282077, 190282142], [190321916, 190322202], [190326783, 190326868]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326868]]
ENST00000465496	[[190231884, 190232008], [190236297, 190236819]]	None
ENST00000461629	[[190231896, 190232008], [190273918, 190274005], [190282077, 190282306]]	None
ENST00000473566	[[190231907, 190232008], [190282077, 190282457]]	None
ENST00000476929	[[190234007, 190234085], [190235642, 190235820], [190238290, 190238349]]	None
ENST00000482913	[[190273652, 190274005], [190282077, 190282207]]	None
ENST00000412080	[[190333096, 190333143], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347521]]	[[190333096, 190333143], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347307]]
NM_001167930	[[190231839, 190232008], [190282077, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190348074]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347307]]
NM_134470	[[190231839, 190232008], [190273918, 190274005], [190282077, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190348074]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347307]]
NM_001167929	[[190231839, 190232008], [190282077, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190366126, 190369308]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190366126, 190366494]]
NM_002182	[[190231839, 190232008], [190273918, 190274005], [190282077, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190366126, 190369308]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190366126, 190366494]]
NM_001167928	[[190231839, 190232008], [190268130, 190268294], [190273918, 190274005], [190282077, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190366126, 190369308]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190366126, 190366494]]
NM_001167931	[[190231839, 190232008], [190273918, 190274005], [190282077, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190373677, 190374986]]	[[190282078, 190282142], [190321916, 190322202], [190326783, 190326970], [190338063, 190338229], [190341132, 190341204], [190345111, 190345238], [190347138, 190347287], [190362036, 190362186], [190363487, 190363631], [190373677, 190374396]]