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
ENST00000378289 [[14939357, 14941311], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14987103, 14987188], [14991034, 14991086], [14995900, 14996431]] [[14941162, 14941311], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14987103, 14987188], [14991034, 14991086], [14995900, 14996009]]
ENST00000453695 [[14948896, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14987103, 14987188], [14991034, 14991086], [14995900, 14996094]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978538]]
ENST00000378246 [[14949877, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14981808, 14981868], [14987103, 14987188], [14991034, 14991086], [14995900, 14996094]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14981808, 14981825]]
ENST00000357717 [[14950164, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14981808, 14981868], [14991034, 14991086], [14995900, 14996057]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14981808, 14981825]]
ENST00000378278 [[14950169, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14987103, 14987188], [14991034, 14991086], [14995900, 14996047]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14987103, 14987188], [14991034, 14991086], [14995900, 14996009]]
ENST00000396817 [[14950169, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14984112, 14984434], [14987103, 14987188], [14989523, 14989608], [14991034, 14991086], [14995900, 14996047]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978538]]
ENST00000378254 [[14950169, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14987103, 14987188], [14987433, 14987564], [14991034, 14991086], [14995900, 14996047]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978538]]
ENST00000378255 [[14950169, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14984112, 14984434], [14987103, 14987188], [14987433, 14987564], [14991034, 14991086], [14995900, 14996047]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978538]]
ENST00000378249 [[14950169, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14981808, 14981868], [14987103, 14987188], [14995900, 14996047]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14981808, 14981825]]
ENST00000378258 [[14950169, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14987103, 14987188], [14989523, 14989608], [14991034, 14991086], [14995900, 14996071]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978538]]
ENST00000378242 [[14950186, 14951329], [14961736, 14961831], [14964979, 14965674]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14964999]]
ENST00000492201 [[14950740, 14951329], [14961736, 14961831], [14962378, 14962443], [14964979, 14965068], [14968841, 14968896], [14970014, 14970081]] None
ENST00000489845 [[14951168, 14951329], [14953188, 14953321]] None
ENST00000489161 [[14961794, 14961831], [14964979, 14965068], [14970014, 14970061]] None
ENST00000418843 [[14970141, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977522], [14978536, 14978592], [14981808, 14981868], [14987103, 14987188], [14987433, 14987564], [14991034, 14991086], [14995900, 14996030]] [[14970141, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977487]]
ENST00000378241 [[14976443, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14984112, 14984239], [14987103, 14987188], [14989523, 14989608], [14991034, 14991086], [14995900, 14996017]] [[14976443, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978538]]
ENST00000456122 [[14976721, 14976774], [14977461, 14977563], [14981808, 14981868], [14984112, 14984434], [14987103, 14987188], [14989523, 14989608], [14991034, 14991086], [14995900, 14996018]] [[14976721, 14976774], [14977461, 14977563], [14981808, 14981825]]
NM_001033858 [[14946609, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14984112, 14984434], [14987103, 14987188], [14989523, 14989608], [14991034, 14991086], [14995900, 14996431]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978538]]
NR_110297 [[14946609, 14951329], [14953188, 14953329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14984112, 14984239], [14987103, 14987188], [14989523, 14989608], [14991034, 14991086], [14995900, 14996431]] None
NM_001033857 [[14946609, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14987103, 14987188], [14989523, 14989608], [14991034, 14991086], [14995900, 14996431]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978538]]
NM_001289079 [[14946609, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14984112, 14984434], [14987103, 14987188], [14987433, 14987564], [14991034, 14991086], [14995900, 14996431]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978538]]
NM_001289077 [[14946609, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14987103, 14987188], [14987433, 14987564], [14991034, 14991086], [14995900, 14996431]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978538]]
NM_001033855 [[14946609, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14987103, 14987188], [14991034, 14991086], [14995900, 14996431]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14978536, 14978592], [14981808, 14981868], [14987103, 14987188], [14991034, 14991086], [14995900, 14996009]]
NM_022487 [[14946609, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14981808, 14981868], [14987103, 14987188], [14991034, 14991086], [14995900, 14996431]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14981808, 14981825]]
NM_001289076 [[14946609, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14981808, 14981868], [14991034, 14991086], [14995900, 14996431]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14981808, 14981825]]
NM_001289078 [[14946609, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14981808, 14981868], [14987103, 14987188], [14995900, 14996431]] [[14950406, 14951329], [14961736, 14961831], [14964979, 14965068], [14968841, 14968896], [14970014, 14970151], [14974852, 14974954], [14976378, 14976519], [14976701, 14976774], [14977461, 14977563], [14981808, 14981825]]
Promoter
Chrom Start End Description
chr10 14996023 14996069 CAGE_peak_1_at_DCLRE1C_5end
chr10 14996070 14996102 CAGE_peak_2_at_DCLRE1C_5end
chr10 14996321 14996359 CAGE_peak_4_at_DCLRE1C_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I014558 14558380 14574692 2.19 [{'connected_gene': 'FAM107B', 'score': 557.61}, {'connected_gene': 'HSPA14', 'score': 12.61}, {'connected_gene': 'CDNF', 'score': 10.57}, {'connected_gene': 'LOC105376429', 'score': 10.57}, {'connected_gene': 'DCLRE1C', 'score': 1.24}, {'connected_gene': 'GC10M014524', 'score': 0.28}]
chr10 GH10I014647 14647074 14650208 1.54 [{'connected_gene': 'FAM107B', 'score': 33.67}, {'connected_gene': 'C10orf111', 'score': 13.44}, {'connected_gene': 'HSPA14', 'score': 2.23}, {'connected_gene': 'CDNF', 'score': 1.74}, {'connected_gene': 'DCLRE1C', 'score': 1.28}, {'connected_gene': 'RPP38', 'score': 1.27}, {'connected_gene': 'LOC105376429', 'score': 0.77}, {'connected_gene': 'GC10M014524', 'score': 0.13}]
chr10 GH10I014913 14913591 14913885 0.22 [{'connected_gene': 'SUV39H2', 'score': 3.74}, {'connected_gene': 'HSPA14', 'score': 2.05}, {'connected_gene': 'PIR60156', 'score': 0.77}, {'connected_gene': 'GC10P014933', 'score': 0.37}, {'connected_gene': 'DCLRE1C', 'score': 0.26}]
chr10 GH10I014184 14184413 14186761 1.23 [{'connected_gene': 'DCLRE1C', 'score': 41.31}, {'connected_gene': 'PRPF18', 'score': 35.8}, {'connected_gene': 'ENSG00000239665', 'score': 32.31}, {'connected_gene': 'ENSG00000273474', 'score': 31.22}, {'connected_gene': 'HSPA14', 'score': 23.28}, {'connected_gene': 'SEPHS1', 'score': 22.77}, {'connected_gene': 'RPP38', 'score': 20.46}, {'connected_gene': 'GC10P014189', 'score': 0.77}, {'connected_gene': 'LOC101928453', 'score': 0.14}, {'connected_gene': 'FRMD4A', 'score': 0.06}]
chr10 GH10I014950 14950502 14955375 2.09 [{'connected_gene': 'DCLRE1C', 'score': 576.17}, {'connected_gene': 'MEIG1', 'score': 550.77}, {'connected_gene': 'RPP38', 'score': 10.25}, {'connected_gene': 'GC10M014933', 'score': 0.44}, {'connected_gene': 'GC10P014933', 'score': 0.37}]
chr10 GH10I015434 15434201 15434800 0.98 [{'connected_gene': 'DCLRE1C', 'score': 75.48}, {'connected_gene': 'RPP38', 'score': 37.62}, {'connected_gene': 'HSPA14', 'score': 23.45}, {'connected_gene': 'MINDY3', 'score': 12.15}, {'connected_gene': 'FAM171A1', 'score': 7.34}, {'connected_gene': 'GC10P015448', 'score': 0.39}]
chr10 GH10I014583 14582030 14582330 0.77 [{'connected_gene': 'DCLRE1C', 'score': 2.33}, {'connected_gene': 'GC10M014524', 'score': 0.23}, {'connected_gene': 'LOC105376429', 'score': 0.19}, {'connected_gene': 'FAM107B', 'score': 0.08}]
chr10 GH10I014925 14925357 14927380 0.76 [{'connected_gene': 'HSPA14', 'score': 5.47}, {'connected_gene': 'GC10P014933', 'score': 0.44}, {'connected_gene': 'PIR60156', 'score': 0.37}, {'connected_gene': 'DCLRE1C', 'score': 0.31}]
chr10 GH10I014657 14657085 14661599 1.51 [{'connected_gene': 'C10orf111', 'score': 1.83}, {'connected_gene': 'DCLRE1C', 'score': 1.2}, {'connected_gene': 'LOC105376428', 'score': 0.77}, {'connected_gene': 'GC10M014663', 'score': 0.77}, {'connected_gene': 'LOC105376429', 'score': 0.44}, {'connected_gene': 'FAM107B', 'score': 0.13}]
chr10 GH10I014875 14875634 14880653 2.07 [{'connected_gene': 'ENSG00000272853', 'score': 550.77}, {'connected_gene': 'SUV39H2', 'score': 550.77}, {'connected_gene': 'DCLRE1C', 'score': 43.4}, {'connected_gene': 'RPP38', 'score': 27.69}, {'connected_gene': 'HSPA14', 'score': 21.12}, {'connected_gene': 'CDNF', 'score': 10.46}, {'connected_gene': 'LOC100421372', 'score': 0.28}]
chr10 GH10I014904 14904402 14904511 0.54 [{'connected_gene': 'GC10M014904', 'score': 550.77}, {'connected_gene': 'SUV39H2', 'score': 11.64}, {'connected_gene': 'HSPA14', 'score': 10.88}, {'connected_gene': 'CDNF', 'score': 10.88}, {'connected_gene': 'PIR33358', 'score': 0.34}, {'connected_gene': 'DCLRE1C', 'score': 0.25}]
chr10 GH10I014958 14958801 14961308 2.07 [{'connected_gene': 'GC10M014933', 'score': 550.77}, {'connected_gene': 'MEIG1', 'score': 550.44}, {'connected_gene': 'DCLRE1C', 'score': 27.48}, {'connected_gene': 'HSPA14', 'score': 22.33}, {'connected_gene': 'RPP38', 'score': 12.84}, {'connected_gene': 'SUV39H2', 'score': 10.89}, {'connected_gene': 'CDNF', 'score': 10.05}, {'connected_gene': 'OR7E110P', 'score': 0.31}]
chr10 GH10I014939 14939122 14939271 0.59 [{'connected_gene': 'GC10P014933', 'score': 0.44}, {'connected_gene': 'DCLRE1C', 'score': 0.37}, {'connected_gene': 'MEIG1', 'score': 0.37}, {'connected_gene': 'GC10M014933', 'score': 0.34}]
chr10 GH10I014836 14836504 14839936 2.05 [{'connected_gene': 'ENSG00000284024', 'score': 550.77}, {'connected_gene': 'HSPA14', 'score': 550.77}, {'connected_gene': 'CDNF', 'score': 550.77}, {'connected_gene': 'DCLRE1C', 'score': 12.91}, {'connected_gene': 'RPP38', 'score': 10.21}]
chr10 GH10I015083 15083796 15085400 1.01 [{'connected_gene': 'PIR44298', 'score': 550.77}, {'connected_gene': 'C10orf111', 'score': 12.54}, {'connected_gene': 'DCLRE1C', 'score': 12.25}, {'connected_gene': 'ACBD7', 'score': 8.67}, {'connected_gene': 'RPP38', 'score': 5.14}, {'connected_gene': 'DCLRE1CP1', 'score': 0.39}]