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
ENST00000417185 [[38048986, 38049349], [38049504, 38049826]] None
ENST00000461445 [[38048986, 38049349], [38049504, 38049654], [38049725, 38049858], [38049948, 38050649], [38050762, 38051302], [38051394, 38051766], [38051851, 38052053], [38052704, 38052936], [38053034, 38053164], [38057981, 38058210], [38061678, 38061843], [38070996, 38071050]] None
ENST00000463876 [[38048988, 38049349], [38049504, 38049654], [38049725, 38049858], [38049948, 38050127], [38050532, 38050649], [38050762, 38050922], [38051143, 38051302], [38051394, 38051544], [38051621, 38051766], [38051851, 38052053], [38052704, 38052936], [38053034, 38053164], [38057981, 38058210], [38061678, 38061843], [38065827, 38066278]] [[38049263, 38049349], [38049504, 38049654], [38049725, 38049858], [38049948, 38050127], [38050532, 38050649], [38050762, 38050922], [38051143, 38051302], [38051394, 38051544], [38051621, 38051766], [38051851, 38052053], [38052704, 38052936], [38053034, 38053164], [38057981, 38058210], [38061678, 38061843], [38065827, 38065924]]
ENST00000334661 [[38048988, 38049349], [38049504, 38049654], [38049725, 38049858], [38049948, 38050127], [38050532, 38050649], [38050762, 38050922], [38051143, 38051302], [38051394, 38051544], [38051621, 38051766], [38051851, 38052053], [38052704, 38052936], [38053034, 38053164], [38057981, 38058210], [38061678, 38061843], [38070996, 38071253]] [[38049263, 38049349], [38049504, 38049654], [38049725, 38049858], [38049948, 38050127], [38050532, 38050649], [38050762, 38050922], [38051143, 38051302], [38051394, 38051544], [38051621, 38051766], [38051851, 38052053], [38052704, 38052936], [38053034, 38053164], [38057981, 38058210], [38061678, 38061843], [38070996, 38071030]]
ENST00000495395 [[38049764, 38049858], [38049948, 38050255]] None
ENST00000484829 [[38049953, 38050127], [38050532, 38050649], [38050762, 38050922], [38051143, 38051302], [38051394, 38051766], [38051851, 38051913]] None
ENST00000495367 [[38050068, 38050127], [38050532, 38050649], [38050762, 38050922], [38051143, 38051374]] None
ENST00000479619 [[38052783, 38052936], [38053034, 38053164], [38057981, 38058210], [38060460, 38060525]] None
ENST00000473834 [[38061719, 38061843], [38065646, 38066067]] None
NR_024071 [[38048986, 38049349], [38049504, 38049654], [38049725, 38049858], [38049948, 38050127], [38050532, 38050649], [38050762, 38050922], [38051143, 38051302], [38051394, 38051766], [38051851, 38052053], [38052704, 38052936], [38053034, 38053164], [38057981, 38058210], [38061678, 38061843], [38065827, 38066278]] None
NM_001130964 [[38048986, 38049349], [38049504, 38049654], [38049725, 38049858], [38049948, 38050127], [38050532, 38050649], [38050762, 38050922], [38051143, 38051302], [38051394, 38051544], [38051621, 38051766], [38051851, 38052053], [38052704, 38052936], [38053034, 38053164], [38057981, 38058210], [38061678, 38061843], [38065827, 38066278]] [[38049263, 38049349], [38049504, 38049654], [38049725, 38049858], [38049948, 38050127], [38050532, 38050649], [38050762, 38050922], [38051143, 38051302], [38051394, 38051544], [38051621, 38051766], [38051851, 38052053], [38052704, 38052936], [38053034, 38053164], [38057981, 38058210], [38061678, 38061843], [38065827, 38065924]]
NM_006225 [[38048986, 38049349], [38049504, 38049654], [38049725, 38049858], [38049948, 38050127], [38050532, 38050649], [38050762, 38050922], [38051143, 38051302], [38051394, 38051544], [38051621, 38051766], [38051851, 38052053], [38052704, 38052936], [38053034, 38053164], [38057981, 38058210], [38061678, 38061843], [38070996, 38071154]] [[38049263, 38049349], [38049504, 38049654], [38049725, 38049858], [38049948, 38050127], [38050532, 38050649], [38050762, 38050922], [38051143, 38051302], [38051394, 38051544], [38051621, 38051766], [38051851, 38052053], [38052704, 38052936], [38053034, 38053164], [38057981, 38058210], [38061678, 38061843], [38070996, 38071030]]
Promoter
Chrom Start End Description
chr3 38060516 38060530 CAGE_peak_10_at_PLCD1_5end
chr3 38060540 38060563 CAGE_peak_7_at_PLCD1_5end
chr3 38060565 38060575 CAGE_peak_13_at_PLCD1_5end
chr3 38060580 38060593 CAGE_peak_14_at_PLCD1_5end
chr3 38065955 38065976 CAGE_peak_6_at_PLCD1_5end
chr3 38065993 38066017 CAGE_peak_3_at_PLCD1_5end
chr3 38066019 38066041 CAGE_peak_4_at_PLCD1_5end
chr3 38071108 38071121 CAGE_peak_2_at_PLCD1_5end
chr3 38071122 38071141 CAGE_peak_1_at_PLCD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I038163 38163201 38171195 2.78 [{'connected_gene': 'OXSR1', 'score': 590.52}, {'connected_gene': 'LOC101928234', 'score': 550.77}, {'connected_gene': 'GORASP1', 'score': 21.99}, {'connected_gene': 'NDUFAF4P3', 'score': 21.97}, {'connected_gene': 'ACAA1', 'score': 20.38}, {'connected_gene': 'MYD88', 'score': 19.35}, {'connected_gene': 'ACVR2B', 'score': 11.9}, {'connected_gene': 'C3orf35', 'score': 11.75}, {'connected_gene': 'SLC22A13', 'score': 11.07}, {'connected_gene': 'ACVR2B-AS1', 'score': 10.25}, {'connected_gene': 'VILL', 'score': 7.7}, {'connected_gene': 'PLCD1', 'score': 2.97}, {'connected_gene': 'DLEC1', 'score': 1.38}, {'connected_gene': 'SLC22A14', 'score': 1.29}, {'connected_gene': 'GC03P038253', 'score': 0.17}, {'connected_gene': 'PIR62277', 'score': 0.17}]
chr3 GH03I038037 38037750 38040728 1.95 [{'connected_gene': 'DLEC1', 'score': 558.86}, {'connected_gene': 'PLCD1', 'score': 5.93}, {'connected_gene': 'PPP2R2DP1', 'score': 0.39}]
chr3 GH03I038147 38147435 38150399 1.44 [{'connected_gene': 'SLC22A13', 'score': 10.42}, {'connected_gene': 'VILL', 'score': 8.54}, {'connected_gene': 'MYD88', 'score': 4.66}, {'connected_gene': 'PLCD1', 'score': 4.34}, {'connected_gene': 'OXSR1', 'score': 3.84}]
chr3 GH03I038028 38028036 38032362 2.42 [{'connected_gene': 'PLCD1', 'score': 560.08}, {'connected_gene': 'DLEC1', 'score': 0.44}]
chr3 GH03I038085 38084630 38084779 0.43 [{'connected_gene': 'PLCD1', 'score': 5.27}, {'connected_gene': 'GC03M038048', 'score': 0.31}, {'connected_gene': 'PIR60395', 'score': 0.29}, {'connected_gene': 'DLEC1', 'score': 0.25}]
chr3 GH03I038108 38108401 38109400 0.46 [{'connected_gene': 'PLCD1', 'score': 6.19}, {'connected_gene': 'PIR60395', 'score': 0.44}, {'connected_gene': 'LOC105377033', 'score': 0.39}, {'connected_gene': 'ACAA1', 'score': 0.31}, {'connected_gene': 'GC03M038048', 'score': 0.23}, {'connected_gene': 'DLEC1', 'score': 0.19}]
chr3 GH03I038022 38022977 38026310 2.21 [{'connected_gene': 'PLCD1', 'score': 550.44}, {'connected_gene': 'ENSG00000200579', 'score': 0.39}]
chr3 GH03I038011 38011010 38011734 0.31 [{'connected_gene': 'VILL', 'score': 13.93}, {'connected_gene': 'GC03P038014', 'score': 0.77}, {'connected_gene': 'PLCD1', 'score': 0.37}]
chr3 GH03I038015 38015041 38021270 0.88 [{'connected_gene': 'VILL', 'score': 12.66}, {'connected_gene': 'CTDSPL', 'score': 11.63}, {'connected_gene': 'ITGA9-AS1', 'score': 11.63}, {'connected_gene': 'PLCD1', 'score': 4.97}, {'connected_gene': 'ENSG00000200579', 'score': 0.77}]
chr3 GH03I038102 38102002 38102902 0.63 [{'connected_gene': 'MYD88', 'score': 13.96}, {'connected_gene': 'VILL', 'score': 13.76}, {'connected_gene': 'ACAA1', 'score': 11.76}, {'connected_gene': 'SLC22A13', 'score': 11.07}, {'connected_gene': 'PLCD1', 'score': 6.24}, {'connected_gene': 'OXSR1', 'score': 2.95}, {'connected_gene': 'SLC22A14', 'score': 2.92}, {'connected_gene': 'PIR60395', 'score': 0.39}, {'connected_gene': 'GC03M038048', 'score': 0.25}, {'connected_gene': 'DLEC1', 'score': 0.21}]
chr3 GH03I038010 38010001 38010400 0.51 [{'connected_gene': 'GC03P038014', 'score': 0.77}, {'connected_gene': 'PLCD1', 'score': 0.37}, {'connected_gene': 'VILL', 'score': 0.34}]