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
ENST00000512055 [[131252408, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469], [131624107, 131624288], [131753410, 131754286], [131756400, 131756554], [131758368, 131759165], [132002886, 132003014], [132004083, 132004254]] [[131254038, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469]]
ENST00000515418 [[131253580, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442475]] None
ENST00000429747 [[131253583, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469], [131624107, 131624288], [131753410, 131753844]] [[131254038, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469]]
ENST00000512332 [[131253719, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469], [131624107, 131624288], [131756400, 131756554], [131758368, 131758450]] [[131254038, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469], [131624107, 131624288], [131756400, 131756453]]
ENST00000511604 [[131253786, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469], [131624107, 131624288], [131753410, 131753642], [131754178, 131754286], [131756400, 131756554], [131758368, 131758450]] [[131254038, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469]]
ENST00000502818 [[131253866, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469], [131624107, 131624288], [131756400, 131756554], [131756687, 131756806]] [[131254038, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469], [131624107, 131624288], [131756400, 131756453]]
ENST00000505881 [[131415385, 131415460], [131418752, 131418824], [131442289, 131442469], [131624107, 131624288], [131644372, 131644425]] [[131415385, 131415460], [131418752, 131418824], [131442289, 131442469]]
ENST00000514999 [[131442401, 131442469], [131624107, 131624288], [131736298, 131736599]] [[131442401, 131442469]]
ENST00000505957 [[131442429, 131442469], [131624107, 131624288], [131753410, 131753603], [131756400, 131756563]] [[131442429, 131442469]]
ENST00000514439 [[131252398, 131254173], [131261400, 131261937]] None
ENST00000503204 [[131253586, 131254173], [131257671, 131257784]] None
ENST00000506687 [[131753590, 131753634], [131754178, 131754286], [131756400, 131756554], [131758368, 131758449], [131759034, 131759094]] None
ENST00000505331 [[131754155, 131754286], [131756400, 131756554], [131759034, 131759067]] None
NM_130808 [[131252403, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469], [131624107, 131624288], [131753410, 131754286]] [[131254038, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469]]
NM_001289112 [[131252403, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469], [131624107, 131624288], [131756400, 131756648]] [[131254038, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469], [131624107, 131624288], [131756400, 131756453]]
NM_153429 [[131252403, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469], [131624107, 131624288], [131756400, 131756554], [131758368, 131758450]] [[131254038, 131254173], [131261400, 131261637], [131268790, 131268924], [131271283, 131271335], [131274340, 131274395], [131283059, 131283193], [131293914, 131293974], [131300422, 131300509], [131306327, 131306426], [131388518, 131388608], [131404718, 131404802], [131415385, 131415460], [131418752, 131418824], [131442289, 131442469], [131624107, 131624288], [131756400, 131756453]]
Promoter
Chrom Start End Description
chr3 131736573 131736580 CAGE_peak_15_at_CPNE4_5end
chr3 131736593 131736606 CAGE_peak_6_at_CPNE4_5end
chr3 131753715 131753722 CAGE_peak_5_at_CPNE4_5end
chr3 131753790 131753801 CAGE_peak_3_at_CPNE4_5end
chr3 131753830 131753844 CAGE_peak_2_at_CPNE4_5end
chr3 131753848 131753897 CAGE_peak_1_at_CPNE4_5end
chr3 131756559 131756572 CAGE_peak_7_at_CPNE4_5end
chr3 131756595 131756614 CAGE_peak_4_at_CPNE4_5end
chr3 131756632 131756637 CAGE_peak_11_at_CPNE4_5end
chr3 131756644 131756651 CAGE_peak_13_at_CPNE4_5end
chr3 132004251 132004258 CAGE_peak_10_at_CPNE4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I132311 132311788 132311800 0.22 [{'connected_gene': 'UBA5', 'score': 3.96}, {'connected_gene': 'ACPP', 'score': 0.44}, {'connected_gene': 'CPNE4', 'score': 0.31}]
chr3 GH03I132133 132133398 132137095 1.25 [{'connected_gene': 'RPL7P16', 'score': 5.26}, {'connected_gene': 'LOC729674', 'score': 0.26}, {'connected_gene': 'GC03M131998', 'score': 0.22}, {'connected_gene': 'CPNE4', 'score': 0.1}]
chr3 GH03I132267 132267147 132268410 0.31 [{'connected_gene': 'RPL7P16', 'score': 9.88}, {'connected_gene': 'NPHP3', 'score': 5.41}, {'connected_gene': 'CPNE4', 'score': 0.37}]
chr3 GH03I132254 132254403 132255977 0.66 [{'connected_gene': 'RPL7P16', 'score': 0.39}, {'connected_gene': 'CPNE4', 'score': 0.29}]
chr3 GH03I132175 132175285 132175344 0.5 [{'connected_gene': 'LOC729674', 'score': 550.77}, {'connected_gene': 'GC03M131998', 'score': 0.15}, {'connected_gene': 'CPNE4', 'score': 0.14}]
chr3 GH03I132180 132180457 132180506 0.57 [{'connected_gene': 'LOC729674', 'score': 0.44}, {'connected_gene': 'GC03M132230', 'score': 0.25}, {'connected_gene': 'TRC-GCA6-1', 'score': 0.25}, {'connected_gene': 'CPNE4', 'score': 0.14}]
chr3 GH03I132316 132316353 132319088 1.81 [{'connected_gene': 'ACPP', 'score': 550.77}, {'connected_gene': 'ENSG00000261167', 'score': 10.04}, {'connected_gene': 'CPNE4', 'score': 5.5}, {'connected_gene': 'GC03P132328', 'score': 0.39}]
chr3 GH03I132290 132290601 132291201 0.69 [{'connected_gene': 'ACPP', 'score': 16.23}, {'connected_gene': 'CPNE4', 'score': 8.26}]
chr3 GH03I132289 132288914 132290417 0.2 [{'connected_gene': 'ACPP', 'score': 16.29}, {'connected_gene': 'CPNE4', 'score': 6.6}]
chr3 GH03I132205 132205098 132206211 0.2 [{'connected_gene': 'NPHP3', 'score': 5.12}, {'connected_gene': 'RPL7P16', 'score': 5.03}, {'connected_gene': 'GC03M132230', 'score': 0.34}, {'connected_gene': 'TRC-GCA6-1', 'score': 0.34}, {'connected_gene': 'LOC729674', 'score': 0.29}, {'connected_gene': 'CPNE4', 'score': 0.18}]
chr3 GH03I132269 132269097 132269146 0.46 [{'connected_gene': 'CPNE4', 'score': 0.37}, {'connected_gene': 'RPL7P16', 'score': 0.34}]
chr3 GH03I132282 132282981 132286485 0.86 [{'connected_gene': 'CPNE4', 'score': 559.43}, {'connected_gene': 'ACPP', 'score': 4.48}, {'connected_gene': 'RPL7P16', 'score': 4.34}]
chr3 GH03I132288 132288537 132288686 0.31 [{'connected_gene': 'CPNE4', 'score': 0.77}, {'connected_gene': 'ACPP', 'score': 0.31}]
chr3 GH03I131705 131705170 131706161 0.65 [{'connected_gene': 'CPNE4', 'score': 4.82}, {'connected_gene': 'LOC105374113', 'score': 0.15}, {'connected_gene': 'ENSG00000251447', 'score': 0.1}]
chr3 GH03I131797 131796602 131796846 0.75 [{'connected_gene': 'CPNE4', 'score': 7.74}, {'connected_gene': 'LOC105374113', 'score': 0.44}, {'connected_gene': 'ENSG00000251447', 'score': 0.07}]
chr3 GH03I131902 131902928 131905092 0.57 [{'connected_gene': 'CPNE4', 'score': 14.51}, {'connected_gene': 'ENSG00000248468', 'score': 6.23}, {'connected_gene': 'MIR5704', 'score': 0.18}, {'connected_gene': 'LOC105374113', 'score': 0.15}]
chr3 GH03I131958 131958077 131958226 0.2 [{'connected_gene': 'CPNE4', 'score': 8.07}, {'connected_gene': 'MIR5704', 'score': 0.31}, {'connected_gene': 'LOC105374113', 'score': 0.1}]
chr3 GH03I132037 132037750 132037809 0.5 [{'connected_gene': 'CPNE4', 'score': 550.07}, {'connected_gene': 'GC03P132040', 'score': 0.77}, {'connected_gene': 'GC03M131998', 'score': 0.26}, {'connected_gene': 'MIR5704', 'score': 0.23}]
chr3 GH03I132023 132023824 132024103 0.22 [{'connected_gene': 'CPNE4', 'score': 6.19}, {'connected_gene': 'GC03P132040', 'score': 0.37}, {'connected_gene': 'MIR5704', 'score': 0.28}, {'connected_gene': 'GC03M131998', 'score': 0.22}]
chr3 GH03I132035 132035518 132035577 0.73 [{'connected_gene': 'CPNE4', 'score': 550.07}, {'connected_gene': 'GC03P132040', 'score': 0.77}, {'connected_gene': 'GC03M131998', 'score': 0.26}, {'connected_gene': 'MIR5704', 'score': 0.25}]
chr3 GH03I132034 132034977 132035186 1.42 [{'connected_gene': 'CPNE4', 'score': 550.07}, {'connected_gene': 'GC03P132040', 'score': 0.44}, {'connected_gene': 'GC03M131998', 'score': 0.26}, {'connected_gene': 'MIR5704', 'score': 0.25}]
chr3 GH03I131796 131795557 131795706 0.87 [{'connected_gene': 'LOC105374113', 'score': 0.44}, {'connected_gene': 'ENSG00000251447', 'score': 0.07}, {'connected_gene': 'CPNE4', 'score': 0.04}]
chr3 GH03I131778 131778170 131779306 0.2 [{'connected_gene': 'LOC105374113', 'score': 0.34}, {'connected_gene': 'ENSG00000251447', 'score': 0.07}, {'connected_gene': 'CPNE4', 'score': 0.03}]
chr3 GH03I131795 131795003 131795026 0.62 [{'connected_gene': 'LOC105374113', 'score': 0.44}, {'connected_gene': 'ENSG00000251447', 'score': 0.07}, {'connected_gene': 'CPNE4', 'score': 0.04}]
chr3 GH03I132231 132231297 132232457 0.67 [{'connected_gene': 'TRC-GCA9-1', 'score': 550.77}, {'connected_gene': 'ENSG00000261167', 'score': 11.66}, {'connected_gene': 'GC03M132244', 'score': 0.39}, {'connected_gene': 'CPNE4', 'score': 0.23}]
chr3 GH03I132242 132242991 132243300 0.24 [{'connected_gene': 'GC03M132244', 'score': 550.77}, {'connected_gene': 'RPL7P16', 'score': 550.77}, {'connected_gene': 'UBA5', 'score': 5.3}, {'connected_gene': 'TRC-GCA9-1', 'score': 0.39}, {'connected_gene': 'CPNE4', 'score': 0.26}]
chr3 GH03I131543 131543800 131544026 0.85 [{'connected_gene': 'ENSG00000251447', 'score': 0.44}, {'connected_gene': 'LOC105374114', 'score': 0.26}, {'connected_gene': 'LOC105374113', 'score': 0.07}, {'connected_gene': 'CPNE4', 'score': 0.02}]
chr3 GH03I131568 131568425 131569206 0.31 [{'connected_gene': 'ENSG00000251447', 'score': 0.29}, {'connected_gene': 'LOC105374114', 'score': 0.2}, {'connected_gene': 'LOC105374113', 'score': 0.07}, {'connected_gene': 'CPNE4', 'score': 0.03}]
chr3 GH03I132029 132029377 132029486 0.69 [{'connected_gene': 'GC03P132040', 'score': 0.39}, {'connected_gene': 'MIR5704', 'score': 0.26}, {'connected_gene': 'GC03M131998', 'score': 0.23}, {'connected_gene': 'CPNE4', 'score': 0.07}]
chr3 GH03I131535 131535737 131535769 0.2 [{'connected_gene': 'ENSG00000251447', 'score': 550.77}, {'connected_gene': 'BCL2L12P1', 'score': 0.44}, {'connected_gene': 'LOC105374114', 'score': 0.29}, {'connected_gene': 'CPNE4', 'score': 0.03}]

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