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
ENST00000403721 [[55463730, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55491001], [55494704, 55494771], [55496304, 55496379]] [[55463783, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55490994]]
ENST00000263629 [[55463755, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55491001], [55494704, 55494771], [55495713, 55495875], [55496304, 55496384]] [[55463783, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55490994]]
ENST00000394600 [[55463757, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55491001], [55493516, 55493654], [55494704, 55494771], [55495713, 55495875], [55495952, 55496315]] [[55463783, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55490994]]
ENST00000418823 [[55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471290, 55471369], [55473472, 55473597], [55476530, 55476670]] [[55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471290, 55471369], [55473472, 55473597], [55476530, 55476670]]
ENST00000417741 [[55479677, 55479789], [55481789, 55481961], [55489451, 55489563], [55490775, 55491001], [55494704, 55494740]] None
ENST00000446660 [[55481902, 55481961], [55489451, 55489563], [55490775, 55491001], [55494704, 55494771], [55495952, 55496353]] None
ENST00000366137 [[55490776, 55491001], [55493516, 55493654], [55494704, 55494771], [55495713, 55495875], [55495952, 55496315]] [[55490776, 55490994]]
ENST00000441307 [[55490782, 55491001], [55494704, 55494771], [55495713, 55495875], [55496348, 55496483]] [[55490782, 55490994]]
ENST00000404297 [[55490783, 55491001], [55494704, 55494923]] [[55490783, 55490994]]
ENST00000420637 [[55490915, 55491001], [55494704, 55494771], [55495713, 55495875], [55496127, 55496329]] [[55490915, 55490994]]
ENST00000417363 [[55490963, 55491001], [55494704, 55494771], [55495713, 55496174]] [[55490963, 55490994]]
ENST00000412530 [[55490972, 55491001], [55494704, 55494771], [55495713, 55495875], [55495952, 55496274]] [[55490972, 55490994]]
NM_001005369 [[55463755, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55491001], [55493516, 55493654], [55494704, 55494771], [55495713, 55495875], [55495952, 55496315]] [[55463783, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55490994]]
NM_001321004 [[55463755, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55491001], [55494704, 55494771], [55495952, 55496384]] [[55463783, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55490994]]
NM_001321003 [[55463755, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55491001], [55493516, 55493654], [55494704, 55494771], [55495713, 55495875], [55496304, 55496384]] [[55463783, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55490994]]
NM_002453 [[55463755, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55491001], [55494704, 55494771], [55495713, 55495875], [55496304, 55496384]] [[55463783, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55490994]]
NM_001321005 [[55463755, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481789, 55481961], [55489451, 55489563], [55490775, 55491001], [55494704, 55494771], [55495713, 55495875], [55496304, 55496384]] [[55463783, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479724]]
NM_001321002 [[55463755, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55491001], [55494704, 55494771], [55495785, 55495875], [55496304, 55496384]] [[55463783, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55490994]]
NM_001321001 [[55463755, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55491001], [55494704, 55494771], [55495713, 55495875], [55496348, 55496384]] [[55463783, 55463956], [55464423, 55464564], [55467146, 55467311], [55470075, 55470216], [55470551, 55470804], [55471164, 55471369], [55473472, 55473597], [55476530, 55476670], [55479612, 55479789], [55481176, 55481337], [55481789, 55481961], [55489451, 55489563], [55490775, 55490994]]
Promoter
Chrom Start End Description
chr2 55496323 55496334 CAGE_peak_2_at_MTIF2_5end
chr2 55496344 55496391 CAGE_peak_1_at_MTIF2_5end
chr2 55496476 55496486 CAGE_peak_3_at_MTIF2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I055281 55281305 55283955 1.55 [{'connected_gene': 'PRORSD1P', 'score': 566.4}, {'connected_gene': 'ENSG00000240401', 'score': 550.77}, {'connected_gene': 'CLHC1', 'score': 20.08}, {'connected_gene': 'CCDC88A', 'score': 11.46}, {'connected_gene': 'ENSG00000203327', 'score': 10.1}, {'connected_gene': 'MTIF2', 'score': 5.98}, {'connected_gene': 'GC02P055286', 'score': 0.77}]
chr2 GH02I055150 55150240 55160104 1.59 [{'connected_gene': 'CLHC1', 'score': 39.34}, {'connected_gene': 'ENSG00000203327', 'score': 21.05}, {'connected_gene': 'RTN4', 'score': 18.32}, {'connected_gene': 'RNU6-433P', 'score': 11.61}, {'connected_gene': 'RPS27A', 'score': 10.06}, {'connected_gene': 'PRORSD1P', 'score': 8.34}, {'connected_gene': 'MTIF2', 'score': 4.24}, {'connected_gene': 'PPP4R3B', 'score': 1.12}, {'connected_gene': 'GC02M055160', 'score': 0.44}, {'connected_gene': 'LOC105374674', 'score': 0.37}, {'connected_gene': 'GC02P055128', 'score': 0.31}]
chr2 GH02I055235 55235945 55236234 0.59 [{'connected_gene': 'CLHC1', 'score': 33.63}, {'connected_gene': 'PRORSD1P', 'score': 11.17}, {'connected_gene': 'GC02P055233', 'score': 0.77}, {'connected_gene': 'MTIF2', 'score': 0.29}]
chr2 GH02I055166 55166622 55169294 1.24 [{'connected_gene': 'CLHC1', 'score': 44.19}, {'connected_gene': 'RNU6-433P', 'score': 12.11}, {'connected_gene': 'ENSG00000203327', 'score': 10.63}, {'connected_gene': 'MTIF2', 'score': 5.67}, {'connected_gene': 'EML6', 'score': 4.0}, {'connected_gene': 'LOC105374674', 'score': 0.77}, {'connected_gene': 'GC02M055160', 'score': 0.44}]
chr2 GH02I055268 55268200 55270215 2.12 [{'connected_gene': 'GC02P055270', 'score': 550.77}, {'connected_gene': 'MTIF2', 'score': 550.77}, {'connected_gene': 'RPS27A', 'score': 37.44}, {'connected_gene': 'CLHC1', 'score': 15.51}, {'connected_gene': 'PRORSD1P', 'score': 10.91}, {'connected_gene': 'GC02P055233', 'score': 0.28}]

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