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
ENST00000230361	[[42152138, 42152680], [42153417, 42153535], [42156319, 42156469], [42162351, 42162654]]	[[42152552, 42152680], [42153417, 42153535], [42156319, 42156469], [42162351, 42162558]]
NM_002098	[[42151021, 42152680], [42153417, 42153535], [42156319, 42156469], [42162351, 42162694]]	[[42152552, 42152680], [42153417, 42153535], [42156319, 42156469], [42162351, 42162558]]

Promoter

Chrom	Start	End	Description
chr6	42162685	42162699	CAGE_peak_1_at_GUCA1B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I042150	42150964	42152095	1	[{'connected_gene': 'CUL7', 'score': 15.88}, {'connected_gene': 'ENSG00000272223', 'score': 12.5}, {'connected_gene': 'PTK7', 'score': 11.61}, {'connected_gene': 'PEX6', 'score': 10.79}, {'connected_gene': 'GUCA1B', 'score': 5.25}, {'connected_gene': 'GUCA1A', 'score': 0.77}, {'connected_gene': 'C6orf132', 'score': 0.44}]
chr6	GH06I042075	42075623	42075772	0.77	[{'connected_gene': 'CCND3', 'score': 11.95}, {'connected_gene': 'TAF8', 'score': 11.95}, {'connected_gene': 'GUCA1A', 'score': 11.56}, {'connected_gene': 'ENSG00000214732', 'score': 11.56}, {'connected_gene': 'C6orf132', 'score': 10.95}, {'connected_gene': 'GUCA1B', 'score': 10.93}, {'connected_gene': 'USP49', 'score': 10.35}, {'connected_gene': 'MED20', 'score': 9.74}, {'connected_gene': 'ENSG00000207371', 'score': 9.74}, {'connected_gene': 'BYSL', 'score': 9.74}, {'connected_gene': 'ENSG00000206977', 'score': 9.57}, {'connected_gene': 'ENSG00000261068', 'score': 0.37}]
chr6	GH06I042097	42097262	42108458	1.44	[{'connected_gene': 'RRP36', 'score': 19.57}, {'connected_gene': 'C6orf132', 'score': 18.13}, {'connected_gene': 'UBR2', 'score': 13.38}, {'connected_gene': 'BICRAL', 'score': 12.98}, {'connected_gene': 'GUCA1A', 'score': 11.63}, {'connected_gene': 'ENSG00000214732', 'score': 11.63}, {'connected_gene': 'GUCA1B', 'score': 11.11}, {'connected_gene': 'ENSG00000261068', 'score': 10.35}, {'connected_gene': 'FRS3', 'score': 10.09}, {'connected_gene': 'PRICKLE4', 'score': 10.08}, {'connected_gene': 'ENSG00000124593', 'score': 10.08}, {'connected_gene': 'TAF8', 'score': 9.96}, {'connected_gene': 'MED20', 'score': 9.84}, {'connected_gene': 'ENSG00000207371', 'score': 9.84}, {'connected_gene': 'BYSL', 'score': 9.83}, {'connected_gene': 'RNU6-761P', 'score': 9.7}, {'connected_gene': 'ENSG00000206977', 'score': 9.5}, {'connected_gene': 'GC06P042354', 'score': 0.29}]
chr6	GH06I042135	42135025	42143816	2.45	[{'connected_gene': 'C6orf132', 'score': 550.77}, {'connected_gene': 'GUCA1B', 'score': 15.14}, {'connected_gene': 'RRP36', 'score': 12.72}, {'connected_gene': 'ENSG00000261068', 'score': 6.84}, {'connected_gene': 'GC06P042354', 'score': 0.77}]
chr6	GH06I042112	42112320	42115110	0.86	[{'connected_gene': 'C6orf132', 'score': 26.86}, {'connected_gene': 'GUCA1A', 'score': 12.02}, {'connected_gene': 'ENSG00000214732', 'score': 12.02}, {'connected_gene': 'GUCA1B', 'score': 10.89}, {'connected_gene': 'MED20', 'score': 9.66}, {'connected_gene': 'ENSG00000207371', 'score': 9.66}, {'connected_gene': 'BYSL', 'score': 9.65}, {'connected_gene': 'ENSG00000261068', 'score': 0.37}, {'connected_gene': 'GC06P042354', 'score': 0.34}]
chr6	GH06I042115	42115743	42125878	1.38	[{'connected_gene': 'C6orf132', 'score': 18.42}, {'connected_gene': 'GUCA1A', 'score': 12.05}, {'connected_gene': 'ENSG00000214732', 'score': 12.05}, {'connected_gene': 'GUCA1B', 'score': 10.84}, {'connected_gene': 'MED20', 'score': 9.61}, {'connected_gene': 'ENSG00000207371', 'score': 9.61}, {'connected_gene': 'BYSL', 'score': 9.61}, {'connected_gene': 'ENSG00000206977', 'score': 9.31}, {'connected_gene': 'ENSG00000261068', 'score': 5.12}, {'connected_gene': 'GC06P042354', 'score': 0.39}]
chr6	GH06I042345	42345194	42346977	0.43	[{'connected_gene': 'TRERF1', 'score': 13.36}, {'connected_gene': 'GUCA1B', 'score': 10.19}, {'connected_gene': 'GC06M042412', 'score': 0.2}, {'connected_gene': 'LOC105375061', 'score': 0.14}]
chr6	GH06I042363	42363402	42365799	0.86	[{'connected_gene': 'TRERF1', 'score': 18.59}, {'connected_gene': 'GUCA1B', 'score': 9.63}, {'connected_gene': 'GC06M042412', 'score': 0.25}, {'connected_gene': 'LOC105375061', 'score': 0.12}]
chr6	GH06I042216	42216272	42218513	2.27	[{'connected_gene': 'MRPS10', 'score': 598.33}, {'connected_gene': 'RRP36', 'score': 11.37}, {'connected_gene': 'GUCA1B', 'score': 0.39}]
chr6	GH06I042210	42210223	42211427	0.77	[{'connected_gene': 'MRPS10', 'score': 47.79}, {'connected_gene': 'RPL24P4', 'score': 11.12}, {'connected_gene': 'CUL7', 'score': 10.37}, {'connected_gene': 'PTK7', 'score': 10.29}, {'connected_gene': 'GUCA1B', 'score': 0.77}]
chr6	GH06I042212	42212815	42213275	0.31	[{'connected_gene': 'MRPS10', 'score': 14.37}, {'connected_gene': 'GUCA1B', 'score': 0.44}]
chr6	GH06I042214	42214383	42215200	1.3	[{'connected_gene': 'MRPS10', 'score': 48.32}, {'connected_gene': 'GUCA1B', 'score': 0.44}]
chr6	GH06I042211	42211676	42212469	0.52	[{'connected_gene': 'MRPS10', 'score': 47.9}, {'connected_gene': 'GUCA1B', 'score': 0.44}]
chr6	GH06I042193	42193401	42193800	0.46	[{'connected_gene': 'MRPS10', 'score': 15.81}, {'connected_gene': 'GUCA1B', 'score': 0.39}, {'connected_gene': 'ENSG00000214732', 'score': 0.28}]
chr6	GH06I042196	42196659	42201362	1.27	[{'connected_gene': 'MRPS10', 'score': 48.41}, {'connected_gene': 'GUCA1A', 'score': 11.28}, {'connected_gene': 'ENSG00000214732', 'score': 11.28}, {'connected_gene': 'ENSG00000207371', 'score': 8.86}, {'connected_gene': 'MED20', 'score': 8.86}, {'connected_gene': 'BYSL', 'score': 8.86}, {'connected_gene': 'GUCA1B', 'score': 0.44}]
chr6	GH06I042190	42190403	42191457	0.7	[{'connected_gene': 'MRPS10', 'score': 47.67}, {'connected_gene': 'GUCA1A', 'score': 11.36}, {'connected_gene': 'ENSG00000214732', 'score': 11.36}, {'connected_gene': 'C6orf132', 'score': 11.3}, {'connected_gene': 'GUCA1B', 'score': 0.37}]
chr6	GH06I042164	42164107	42164292	0.2	[{'connected_gene': 'MRPS10', 'score': 32.75}, {'connected_gene': 'GUCA1A', 'score': 0.44}, {'connected_gene': 'ENSG00000214732', 'score': 0.44}, {'connected_gene': 'GUCA1B', 'score': 0.26}]
chr6	GH06I042177	42177603	42179000	0.69	[{'connected_gene': 'MRPS10', 'score': 15.27}, {'connected_gene': 'GUCA1A', 'score': 12.12}, {'connected_gene': 'ENSG00000214732', 'score': 12.12}, {'connected_gene': 'GUCA1B', 'score': 0.31}]
chr6	GH06I042166	42166063	42167472	1.13	[{'connected_gene': 'MRPS10', 'score': 34.31}, {'connected_gene': 'UBR2', 'score': 13.39}, {'connected_gene': 'BICRAL', 'score': 12.98}, {'connected_gene': 'RRP36', 'score': 9.93}, {'connected_gene': 'TAF8', 'score': 9.85}, {'connected_gene': 'GUCA1A', 'score': 0.39}, {'connected_gene': 'ENSG00000214732', 'score': 0.39}, {'connected_gene': 'GUCA1B', 'score': 0.28}]
chr6	GH06I042312	42312112	42318599	1.62	[{'connected_gene': 'GUCA1B', 'score': 10.0}, {'connected_gene': 'BYSL', 'score': 4.47}, {'connected_gene': 'TRERF1', 'score': 2.59}, {'connected_gene': 'LOC105375061', 'score': 0.18}, {'connected_gene': 'GC06M042412', 'score': 0.15}]
chr6	GH06I042147	42147243	42147412	1.04	[{'connected_gene': 'GUCA1B', 'score': 11.04}, {'connected_gene': 'ENSG00000206977', 'score': 9.45}, {'connected_gene': 'C6orf132', 'score': 0.77}, {'connected_gene': 'GUCA1A', 'score': 0.44}]
chr6	GH06I042349	42349958	42351340	0.54	[{'connected_gene': 'GUCA1B', 'score': 10.09}, {'connected_gene': 'GC06M042412', 'score': 0.21}, {'connected_gene': 'TRERF1', 'score': 0.15}, {'connected_gene': 'LOC105375061', 'score': 0.13}]
chr6	GH06I042439	42439260	42443058	1.03	[{'connected_gene': 'GUCA1B', 'score': 9.68}, {'connected_gene': 'TRERF1', 'score': 0.39}, {'connected_gene': 'GC06M042412', 'score': 0.31}]
chr6	GH06I042443	42443123	42445000	1	[{'connected_gene': 'GUCA1B', 'score': 9.68}, {'connected_gene': 'TRERF1', 'score': 0.44}, {'connected_gene': 'GC06M042412', 'score': 0.29}]
chr6	GH06I042204	42204031	42205595	0.91	[{'connected_gene': 'GUCA1B', 'score': 550.77}, {'connected_gene': 'MRPS10', 'score': 47.75}, {'connected_gene': 'GUCA1A', 'score': 11.14}, {'connected_gene': 'ENSG00000214732', 'score': 11.14}]
chr6	GH06I042242	42242334	42243707	0.43	[{'connected_gene': 'GUCA1B', 'score': 10.66}, {'connected_gene': 'MRPS10', 'score': 10.33}, {'connected_gene': 'LOC105375061', 'score': 0.44}, {'connected_gene': 'GC06M042412', 'score': 0.1}, {'connected_gene': 'TRERF1', 'score': 0.08}]
chr6	GH06I042241	42241814	42242205	0.51	[{'connected_gene': 'GUCA1B', 'score': 10.66}, {'connected_gene': 'MRPS10', 'score': 9.62}, {'connected_gene': 'LOC105375061', 'score': 0.44}, {'connected_gene': 'GC06M042412', 'score': 0.09}, {'connected_gene': 'TRERF1', 'score': 0.08}]
chr6	GH06I042230	42230481	42232038	0.69	[{'connected_gene': 'GUCA1B', 'score': 10.97}, {'connected_gene': 'MRPS10', 'score': 10.29}, {'connected_gene': 'LOC105375061', 'score': 0.77}, {'connected_gene': 'PIR36094', 'score': 0.77}, {'connected_gene': 'TRERF1', 'score': 0.07}]
chr6	GH06I042238	42238580	42240781	0.8	[{'connected_gene': 'GUCA1B', 'score': 10.68}, {'connected_gene': 'MRPS10', 'score': 10.19}, {'connected_gene': 'LOC105375061', 'score': 0.44}, {'connected_gene': 'GC06M042412', 'score': 0.09}, {'connected_gene': 'TRERF1', 'score': 0.08}]
chr6	GH06I042148	42147453	42149115	1.04	[{'connected_gene': 'GUCA1B', 'score': 15.78}, {'connected_gene': 'ENSG00000206977', 'score': 9.45}, {'connected_gene': 'GUCA1A', 'score': 0.44}, {'connected_gene': 'C6orf132', 'score': 0.44}]
chr6	GH06I042236	42236743	42237099	0.62	[{'connected_gene': 'GUCA1B', 'score': 10.93}, {'connected_gene': 'GUCA1A', 'score': 10.44}, {'connected_gene': 'ENSG00000214732', 'score': 10.44}, {'connected_gene': 'TRERF1', 'score': 1.71}, {'connected_gene': 'LOC105375061', 'score': 0.77}, {'connected_gene': 'GC06M042412', 'score': 0.1}]
chr6	GH06I042269	42269016	42270396	0.92	[{'connected_gene': 'GUCA1B', 'score': 10.72}, {'connected_gene': 'GUCA1A', 'score': 10.18}, {'connected_gene': 'ENSG00000214732', 'score': 10.18}, {'connected_gene': 'PPP2R5D', 'score': 5.0}, {'connected_gene': 'LOC105375061', 'score': 0.28}, {'connected_gene': 'GC06M042412', 'score': 0.11}, {'connected_gene': 'TRERF1', 'score': 0.09}]
chr6	GH06I042250	42250042	42253816	1.15	[{'connected_gene': 'GUCA1B', 'score': 10.72}, {'connected_gene': 'GUCA1A', 'score': 10.49}, {'connected_gene': 'ENSG00000214732', 'score': 10.49}, {'connected_gene': 'MRPS10', 'score': 10.15}, {'connected_gene': 'LOC105375061', 'score': 0.37}, {'connected_gene': 'GC06M042412', 'score': 0.1}, {'connected_gene': 'TRERF1', 'score': 0.08}]
chr6	GH06I042276	42276001	42277567	0.71	[{'connected_gene': 'GUCA1B', 'score': 10.7}, {'connected_gene': 'GUCA1A', 'score': 10.33}, {'connected_gene': 'ENSG00000214732', 'score': 10.33}, {'connected_gene': 'TAF8', 'score': 7.07}, {'connected_gene': 'MRPS10', 'score': 4.67}, {'connected_gene': 'LOC105375061', 'score': 0.26}, {'connected_gene': 'GC06M042412', 'score': 0.12}, {'connected_gene': 'TRERF1', 'score': 0.1}]
chr6	GH06I042277	42277869	42282251	1	[{'connected_gene': 'GUCA1B', 'score': 10.58}, {'connected_gene': 'GUCA1A', 'score': 10.33}, {'connected_gene': 'ENSG00000214732', 'score': 10.33}, {'connected_gene': 'TAF8', 'score': 7.43}, {'connected_gene': 'LOC105375061', 'score': 0.25}, {'connected_gene': 'GC06M042412', 'score': 0.12}, {'connected_gene': 'TRERF1', 'score': 0.09}]
chr6	GH06I042237	42237692	42238315	0.31	[{'connected_gene': 'GUCA1B', 'score': 10.93}, {'connected_gene': 'GUCA1A', 'score': 10.44}, {'connected_gene': 'ENSG00000214732', 'score': 10.44}, {'connected_gene': 'LOC105375061', 'score': 0.77}, {'connected_gene': 'GC06M042412', 'score': 0.09}, {'connected_gene': 'TRERF1', 'score': 0.08}]
chr6	GH06I042249	42249607	42250034	0.51	[{'connected_gene': 'GUCA1B', 'score': 10.73}, {'connected_gene': 'GUCA1A', 'score': 10.5}, {'connected_gene': 'ENSG00000214732', 'score': 10.5}, {'connected_gene': 'LOC105375061', 'score': 0.37}, {'connected_gene': 'GC06M042412', 'score': 0.1}, {'connected_gene': 'TRERF1', 'score': 0.08}]
chr6	GH06I042246	42246852	42247870	0.31	[{'connected_gene': 'GUCA1B', 'score': 11.15}, {'connected_gene': 'ENSG00000206977', 'score': 9.42}, {'connected_gene': 'LOC105375061', 'score': 0.39}, {'connected_gene': 'GC06M042412', 'score': 0.1}, {'connected_gene': 'TRERF1', 'score': 0.08}]
chr6	GH06I042194	42194946	42195005	0.61	[{'connected_gene': 'GUCA1B', 'score': 550.39}, {'connected_gene': 'ENSG00000214732', 'score': 0.28}]
chr6	GH06I042088	42088243	42088432	0.92	[{'connected_gene': 'GUCA1A', 'score': 11.38}, {'connected_gene': 'ENSG00000214732', 'score': 11.38}, {'connected_gene': 'C6orf132', 'score': 11.31}, {'connected_gene': 'GUCA1B', 'score': 11.05}, {'connected_gene': 'MED20', 'score': 9.23}, {'connected_gene': 'ENSG00000207371', 'score': 9.22}, {'connected_gene': 'BYSL', 'score': 9.21}, {'connected_gene': 'ENSG00000261068', 'score': 0.44}, {'connected_gene': 'TAF8', 'score': 0.28}]
chr6	GH06I042086	42086403	42086552	0.76	[{'connected_gene': 'GUCA1A', 'score': 11.24}, {'connected_gene': 'ENSG00000214732', 'score': 11.24}, {'connected_gene': 'C6orf132', 'score': 10.77}, {'connected_gene': 'GUCA1B', 'score': 10.39}, {'connected_gene': 'ENSG00000261068', 'score': 0.44}, {'connected_gene': 'TAF8', 'score': 0.28}]
chr6	GH06I042128	42128200	42130716	0.85	[{'connected_gene': 'GUCA1A', 'score': 12.46}, {'connected_gene': 'ENSG00000214732', 'score': 12.46}, {'connected_gene': 'C6orf132', 'score': 11.94}, {'connected_gene': 'GUCA1B', 'score': 10.64}, {'connected_gene': 'ENSG00000206977', 'score': 9.27}, {'connected_gene': 'GC06P042354', 'score': 0.44}, {'connected_gene': 'ENSG00000261068', 'score': 0.28}]
chr6	GH06I042153	42153056	42154545	0.54	[{'connected_gene': 'GUCA1A', 'score': 550.77}, {'connected_gene': 'ENSG00000214732', 'score': 550.77}, {'connected_gene': 'GUCA1B', 'score': 4.9}, {'connected_gene': 'C6orf132', 'score': 0.39}]
chr6	GH06I042173	42173334	42173393	0.5	[{'connected_gene': 'GUCA1A', 'score': 550.37}, {'connected_gene': 'ENSG00000214732', 'score': 0.37}, {'connected_gene': 'GUCA1B', 'score': 0.29}]
chr6	GH06I042158	42158063	42158212	0.51	[{'connected_gene': 'GUCA1A', 'score': 0.77}, {'connected_gene': 'ENSG00000214732', 'score': 0.77}, {'connected_gene': 'GUCA1B', 'score': 0.25}]
chr6	GH06I042366	42366002	42370199	1.48	[{'connected_gene': 'UBR2', 'score': 10.22}, {'connected_gene': 'GUCA1B', 'score': 9.62}, {'connected_gene': 'TRERF1', 'score': 9.2}, {'connected_gene': 'CCND3', 'score': 1.85}, {'connected_gene': 'TBCC', 'score': 1.14}, {'connected_gene': 'GC06M042412', 'score': 0.26}, {'connected_gene': 'LOC105375061', 'score': 0.12}]
chr6	GH06I042232	42232181	42233006	0.43	[{'connected_gene': 'LOC105375061', 'score': 550.77}, {'connected_gene': 'GUCA1B', 'score': 10.94}, {'connected_gene': 'PIR36094', 'score': 0.77}, {'connected_gene': 'TRERF1', 'score': 0.08}]
chr6	GH06I042223	42223863	42229740	1.41	[{'connected_gene': 'PIR36094', 'score': 550.77}, {'connected_gene': 'MRPS10', 'score': 43.22}, {'connected_gene': 'GUCA1B', 'score': 11.43}, {'connected_gene': 'GUCA1A', 'score': 10.71}, {'connected_gene': 'ENSG00000214732', 'score': 10.71}, {'connected_gene': 'C6orf132', 'score': 10.26}, {'connected_gene': 'TRERF1', 'score': 0.07}]
chr6	GH06I042093	42093000	42093147	0.31	[{'connected_gene': 'ENSG00000261068', 'score': 558.55}, {'connected_gene': 'GUCA1B', 'score': 11.18}, {'connected_gene': 'GUCA1A', 'score': 11.05}, {'connected_gene': 'ENSG00000214732', 'score': 11.05}, {'connected_gene': 'ENSG00000206977', 'score': 9.87}, {'connected_gene': 'TAF8', 'score': 0.26}]
chr6	GH06I042094	42094103	42094252	0.79	[{'connected_gene': 'ENSG00000261068', 'score': 550.77}, {'connected_gene': 'GUCA1A', 'score': 11.28}, {'connected_gene': 'ENSG00000214732', 'score': 11.28}, {'connected_gene': 'C6orf132', 'score': 11.24}, {'connected_gene': 'GUCA1B', 'score': 11.18}, {'connected_gene': 'FRS3', 'score': 9.92}, {'connected_gene': 'PRICKLE4', 'score': 9.92}, {'connected_gene': 'ENSG00000124593', 'score': 9.92}, {'connected_gene': 'ENSG00000206977', 'score': 9.87}, {'connected_gene': 'TAF8', 'score': 0.26}]
chr6	GH06I042095	42095661	42096798	0.72	[{'connected_gene': 'ENSG00000261068', 'score': 550.77}, {'connected_gene': 'GUCA1A', 'score': 11.3}, {'connected_gene': 'ENSG00000214732', 'score': 11.3}, {'connected_gene': 'C6orf132', 'score': 11.12}, {'connected_gene': 'GUCA1B', 'score': 10.83}, {'connected_gene': 'FRS3', 'score': 9.92}, {'connected_gene': 'PRICKLE4', 'score': 9.92}, {'connected_gene': 'ENSG00000124593', 'score': 9.92}, {'connected_gene': 'ENSG00000206977', 'score': 9.47}, {'connected_gene': 'GC06P042354', 'score': 0.28}]