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
ENST00000277141 [[88902647, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924377, 88924491], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88933872, 88933973], [88934498, 88934585], [88937239, 88937390], [88937787, 88938875], [88940248, 88940429], [88941285, 88941406], [88943254, 88943407], [88952333, 88952453], [88953737, 88953864], [88954950, 88955020], [88955916, 88955968], [88957989, 88958078], [88959891, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88968145], [88969185, 88969325]] [[88903591, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924377, 88924491], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88933872, 88933973], [88934498, 88934585], [88937239, 88937390], [88937787, 88938531]]
ENST00000375961 [[88902647, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88933872, 88933973], [88934498, 88934585], [88937239, 88937390], [88937787, 88938875], [88940248, 88940429], [88943254, 88943407], [88952333, 88952453], [88953737, 88953864], [88954950, 88955020], [88955916, 88955968], [88957989, 88958078], [88959891, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88968145], [88969185, 88969369]] [[88903591, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88933872, 88933973], [88934498, 88934585], [88937239, 88937390], [88937787, 88938875], [88940248, 88940429], [88943254, 88943407], [88952333, 88952453], [88953737, 88953864], [88954950, 88955020], [88955916, 88955968], [88957989, 88958078], [88959891, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88968114]]
ENST00000375960 [[88902647, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924377, 88924491], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88937787, 88938875], [88940248, 88940429], [88943254, 88943407], [88957989, 88958078], [88959891, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88968145], [88969185, 88969369]] [[88903591, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924377, 88924491], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88937787, 88938875], [88940248, 88940429], [88943254, 88943407], [88957989, 88958078], [88959891, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88968114]]
ENST00000375957 [[88902649, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88933872, 88933973], [88934498, 88934559]] [[88903591, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88933872, 88933902]]
ENST00000375963 [[88902873, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924377, 88924491], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88933872, 88933973], [88934498, 88934585], [88937239, 88937390], [88937787, 88938875], [88940248, 88940429], [88943254, 88943407], [88952333, 88952453], [88953737, 88953864], [88954950, 88955020], [88955916, 88955968], [88957989, 88958078], [88959891, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88968145], [88969185, 88969327]] [[88903591, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924377, 88924491], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88933872, 88933973], [88934498, 88934585], [88937239, 88937390], [88937787, 88938875], [88940248, 88940429], [88943254, 88943407], [88952333, 88952453], [88953737, 88953864], [88954950, 88955020], [88955916, 88955968], [88957989, 88958078], [88959891, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88968114]]
ENST00000469004 [[88938542, 88938875], [88939276, 88939568]] None
ENST00000375948 [[88951793, 88952453], [88953737, 88953864], [88954950, 88955020], [88955916, 88955968], [88957989, 88958038]] [[88952327, 88952453], [88953737, 88953864], [88954950, 88955020], [88955916, 88955968]]
ENST00000375947 [[88959784, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88967621]] [[88959880, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88967613]]
NM_001330718 [[88902647, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924377, 88924491], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88933872, 88933973], [88934498, 88934585], [88937239, 88937390], [88937787, 88938875], [88939276, 88939439], [88940248, 88940429], [88943254, 88943407], [88952333, 88952453], [88953737, 88953864], [88954950, 88955020], [88955916, 88955968], [88957989, 88958078], [88959891, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88968145], [88969185, 88969365]] [[88903591, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924377, 88924491], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88933872, 88933973], [88934498, 88934585], [88937239, 88937390], [88937787, 88938531]]
NM_024617 [[88902647, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924377, 88924491], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88933872, 88933973], [88934498, 88934585], [88937239, 88937390], [88937787, 88938875], [88940248, 88940429], [88943254, 88943407], [88952333, 88952453], [88953737, 88953864], [88954950, 88955020], [88955916, 88955968], [88957989, 88958078], [88959891, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88968145], [88969185, 88969402]] [[88903591, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924377, 88924491], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88933872, 88933973], [88934498, 88934585], [88937239, 88937390], [88937787, 88938875], [88940248, 88940429], [88943254, 88943407], [88952333, 88952453], [88953737, 88953864], [88954950, 88955020], [88955916, 88955968], [88957989, 88958078], [88959891, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88968114]]
NM_001185074 [[88902647, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924377, 88924491], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88937787, 88938875], [88940248, 88940429], [88943254, 88943407], [88957989, 88958078], [88959891, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88968145], [88969185, 88969402]] [[88903591, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924377, 88924491], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88937787, 88938875], [88940248, 88940429], [88943254, 88943407], [88957989, 88958078], [88959891, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88968114]]
NM_001185059 [[88902647, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924377, 88924491], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88933872, 88933973], [88934498, 88934585], [88937239, 88937390], [88937787, 88938875], [88940248, 88940429], [88943254, 88943407], [88952333, 88952453], [88953737, 88953864], [88954950, 88955020], [88955916, 88955968], [88957989, 88958078], [88959891, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88968145], [88969295, 88969402]] [[88903591, 88903659], [88916190, 88916516], [88918000, 88918116], [88919770, 88919862], [88920106, 88920154], [88923343, 88923521], [88924126, 88924204], [88924377, 88924491], [88924842, 88924932], [88925620, 88925724], [88932133, 88932191], [88933872, 88933973], [88934498, 88934585], [88937239, 88937390], [88937787, 88938875], [88940248, 88940429], [88943254, 88943407], [88952333, 88952453], [88953737, 88953864], [88954950, 88955020], [88955916, 88955968], [88957989, 88958078], [88959891, 88960069], [88960583, 88960700], [88961213, 88961395], [88967594, 88968114]]
Promoter
Chrom Start End Description
chr9 88939319 88939326 CAGE_peak_25_at_ZCCHC6_5end
chr9 88969207 88969218 CAGE_peak_7_at_ZCCHC6_5end
chr9 88969226 88969237 CAGE_peak_4_at_ZCCHC6_5end
chr9 88969287 88969297 CAGE_peak_3_at_ZCCHC6_5end
chr9 88969303 88969335 CAGE_peak_1_at_ZCCHC6_5end
chr9 88969339 88969422 CAGE_peak_2_at_ZCCHC6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I086280 86280960 86283758 2.07 [{'connected_gene': 'ISCA1', 'score': 550.77}, {'connected_gene': 'C9orf153', 'score': 28.8}, {'connected_gene': 'GAS1RR', 'score': 11.28}, {'connected_gene': 'RN7SKP264', 'score': 11.23}, {'connected_gene': 'LOC389765', 'score': 10.09}, {'connected_gene': 'LOC100130049', 'score': 9.99}, {'connected_gene': 'GAS1', 'score': 9.83}, {'connected_gene': 'ZCCHC6', 'score': 6.06}]
chr9 GH09I086303 86303088 86304494 0.57 [{'connected_gene': 'ZCCHC6', 'score': 6.36}, {'connected_gene': 'ISCA1', 'score': 0.34}, {'connected_gene': 'GC09M086340', 'score': 0.28}]
chr9 GH09I086405 86405209 86408415 1.42 [{'connected_gene': 'ZCCHC6', 'score': 13.46}, {'connected_gene': 'GOLM1', 'score': 5.4}, {'connected_gene': 'C9orf153', 'score': 4.35}, {'connected_gene': 'GC09P086413', 'score': 0.44}, {'connected_gene': 'RPS6P13', 'score': 0.29}]
chr9 GH09I086337 86337066 86341078 0.95 [{'connected_gene': 'ZCCHC6', 'score': 7.58}, {'connected_gene': 'C9orf153', 'score': 5.36}, {'connected_gene': 'GC09M086340', 'score': 0.77}, {'connected_gene': 'ISCA1', 'score': 0.22}]
chr9 GH09I086284 86284553 86285855 0.66 [{'connected_gene': 'ZCCHC6', 'score': 6.13}, {'connected_gene': 'C9orf153', 'score': 4.66}, {'connected_gene': 'ISCA1', 'score': 0.77}, {'connected_gene': 'GC09M086340', 'score': 0.22}]
chr9 GH09I086349 86349966 86356197 2.06 [{'connected_gene': 'ZCCHC6', 'score': 556.89}, {'connected_gene': 'C9orf153', 'score': 15.15}, {'connected_gene': 'RN7SKP264', 'score': 10.05}, {'connected_gene': 'LOC389765', 'score': 9.85}, {'connected_gene': 'GC09M086340', 'score': 0.39}]
chr9 GH09I086763 86763386 86768298 1.31 [{'connected_gene': 'ZCCHC6', 'score': 2.34}, {'connected_gene': 'GC09M086730', 'score': 0.29}, {'connected_gene': 'PIR61502', 'score': 0.09}]
chr9 GH09I086347 86347801 86348000 0.2 [{'connected_gene': 'ZCCHC6', 'score': 0.44}, {'connected_gene': 'GC09M086340', 'score': 0.44}]
chr9 GH09I086322 86322676 86324675 0.46 [{'connected_gene': 'C9orf153', 'score': 19.89}, {'connected_gene': 'ZCCHC6', 'score': 6.19}, {'connected_gene': 'GC09M086340', 'score': 0.37}, {'connected_gene': 'ISCA1', 'score': 0.26}]
chr9 GH09I086320 86320920 86322224 0.38 [{'connected_gene': 'C9orf153', 'score': 19.57}, {'connected_gene': 'ZCCHC6', 'score': 7.31}, {'connected_gene': 'GC09M086340', 'score': 0.37}, {'connected_gene': 'ISCA1', 'score': 0.28}]
chr9 GH09I086359 86359001 86359901 0.56 [{'connected_gene': 'C9orf153', 'score': 5.24}, {'connected_gene': 'ZCCHC6', 'score': 2.72}, {'connected_gene': 'RPS6P13', 'score': 0.37}]
chr9 GH09I086348 86348115 86349235 1.13 [{'connected_gene': 'C9orf153', 'score': 13.61}, {'connected_gene': 'NAA35', 'score': 11.59}, {'connected_gene': 'GAS1RR', 'score': 10.17}, {'connected_gene': 'ZCCHC6', 'score': 0.44}, {'connected_gene': 'GC09M086340', 'score': 0.44}]
chr9 GH09I086368 86368643 86369815 0.94 [{'connected_gene': 'C9orf153', 'score': 13.08}, {'connected_gene': 'RPS6P13', 'score': 0.44}, {'connected_gene': 'ZCCHC6', 'score': 0.39}]
chr9 GH09I086341 86341106 86341255 0.69 [{'connected_gene': 'GC09M086340', 'score': 550.77}, {'connected_gene': 'ZCCHC6', 'score': 0.39}]

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