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
ENST00000531825 [[118350470, 118350507], [118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118353827, 118355834], [118357339, 118357459], [118357558, 118357678], [118359558, 118359825], [118360583, 118360713], [118363541, 118363650], [118364897, 118365065], [118368564, 118368679]] None
ENST00000526223 [[118350471, 118350507], [118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118353830, 118355834], [118357339, 118357459], [118357550, 118357678], [118359558, 118359825], [118360583, 118360713], [118363541, 118363650], [118364897, 118365065], [118368564, 118368687]] None
ENST00000525820 [[118350471, 118350507], [118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118353830, 118355834], [118357339, 118357459], [118357558, 118357678], [118359558, 118359677], [118360583, 118360713], [118363541, 118363650], [118364897, 118365065], [118368564, 118368687]] None
ENST00000358834 [[118350473, 118350507], [118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354376], [118355725, 118355834], [118357339, 118357459], [118357558, 118357678], [118359558, 118359677], [118360583, 118360713], [118363541, 118363650], [118364897, 118365065], [118368564, 118368687]] [[118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354376], [118355725, 118355834], [118357339, 118357459], [118357558, 118357678], [118359558, 118359677], [118360583, 118360713], [118363541, 118363650], [118364897, 118365065], [118368564, 118368628]]
ENST00000528052 [[118350480, 118350551], [118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354376], [118355725, 118355834], [118357339, 118357459], [118357558, 118357678], [118359558, 118359677], [118360583, 118360713], [118363541, 118363650], [118364897, 118365065], [118368564, 118368686]] [[118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354376], [118355725, 118355834], [118357339, 118357459], [118357558, 118357678], [118359558, 118359677], [118360583, 118360713], [118363541, 118363650], [118364897, 118365065], [118368564, 118368628]]
ENST00000534537 [[118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354380], [118355729, 118355834], [118357339, 118357459], [118357558, 118357678], [118359558, 118359677], [118360583, 118360713], [118363541, 118363650], [118364897, 118365065], [118368564, 118368683]] [[118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354380], [118355729, 118355834], [118357339, 118357459], [118357558, 118357678], [118359558, 118359677], [118360583, 118360713], [118363541, 118363650], [118364897, 118365065], [118368564, 118368628]]
ENST00000482833 [[118354241, 118354376], [118355725, 118355834], [118357339, 118357459], [118357558, 118357678], [118360583, 118360713], [118363541, 118363650], [118364897, 118365065], [118368564, 118368687]] [[118354241, 118354376], [118355725, 118355834], [118357339, 118357459], [118357558, 118357678], [118360583, 118360639]]
ENST00000534513 [[118357580, 118357678], [118359558, 118360028]] None
ENST00000525157 [[118349896, 118350096], [118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118353827, 118353862]] None
ENST00000530626 [[118349933, 118350096], [118350641, 118350690], [118351282, 118351654]] None
ENST00000484402 [[118349934, 118350096], [118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354709]] None
ENST00000470678 [[118349936, 118350096], [118350641, 118350690], [118351282, 118351437], [118351927, 118352077]] None
ENST00000531984 [[118349936, 118350096], [118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354376], [118355725, 118355834]] [[118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354376], [118355725, 118355834]]
ENST00000482159 [[118350470, 118350507], [118350641, 118350690], [118351282, 118351437], [118351927, 118352700]] None
ENST00000529584 [[118350470, 118350507], [118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354732]] None
ENST00000442761 [[118350489, 118350507], [118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118353830, 118353854]] [[118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118353830, 118353854]]
ENST00000497792 [[118350527, 118350551], [118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118353827, 118354376], [118355725, 118355834]] [[118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118353827, 118353854]]
ENST00000530319 [[118350527, 118350551], [118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118355725, 118355834], [118357339, 118357457]] [[118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118355725, 118355834], [118357339, 118357457]]
ENST00000527980 [[118350553, 118350690], [118351282, 118351437], [118351927, 118352053], [118355809, 118355834], [118357339, 118357459], [118357558, 118357574]] [[118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118355809, 118355834], [118357339, 118357459], [118357558, 118357574]]
ENST00000480870 [[118350562, 118350690], [118351282, 118351437], [118351927, 118352053], [118353830, 118354011]] None
ENST00000471549 [[118350591, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354306]] [[118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354306]]
ENST00000510125 [[118352197, 118352466], [118353256, 118353424]] None
NM_006229 [[118350470, 118350507], [118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354376], [118355725, 118355834], [118357339, 118357459], [118357558, 118357678], [118359558, 118359677], [118360583, 118360713], [118363541, 118363650], [118364897, 118365065], [118368564, 118368687]] [[118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354376], [118355725, 118355834], [118357339, 118357459], [118357558, 118357678], [118359558, 118359677], [118360583, 118360713], [118363541, 118363650], [118364897, 118365065], [118368564, 118368628]]
NM_001303135 [[118350524, 118350551], [118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354376], [118355725, 118355834], [118357339, 118357459], [118357558, 118357678], [118359558, 118359677], [118360583, 118360713], [118363541, 118363650], [118364897, 118365065], [118368564, 118368687]] [[118350641, 118350690], [118351282, 118351437], [118351927, 118352053], [118354241, 118354376], [118355725, 118355834], [118357339, 118357459], [118357558, 118357678], [118359558, 118359677], [118360583, 118360713], [118363541, 118363650], [118364897, 118365065], [118368564, 118368628]]
Promoter
Chrom Start End Description
chr10 118349920 118349930 CAGE_peak_3_at_PNLIPRP1_5end
chr10 118350468 118350480 CAGE_peak_1_at_PNLIPRP1_5end
chr10 118350522 118350533 CAGE_peak_2_at_PNLIPRP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I116984 116984325 116984469 0.69 [{'connected_gene': 'SHTN1', 'score': 4.35}, {'connected_gene': 'KCNK18', 'score': 2.51}, {'connected_gene': 'HSPA12A', 'score': 1.76}, {'connected_gene': 'PNLIP', 'score': 1.72}, {'connected_gene': 'PNLIPRP2', 'score': 1.64}, {'connected_gene': 'PNLIPRP1', 'score': 1.62}, {'connected_gene': 'VAX1', 'score': 1.37}, {'connected_gene': 'ENSG00000235742', 'score': 0.28}]
chr10 GH10I116627 116627198 116627988 0.52 [{'connected_gene': 'PNLIPRP2', 'score': 14.69}, {'connected_gene': 'PNLIPRP1', 'score': 11.06}, {'connected_gene': 'LOC105378499', 'score': 10.21}, {'connected_gene': 'C10orf82', 'score': 10.21}]
chr10 GH10I116616 116614875 116615224 0.2 [{'connected_gene': 'PNLIPRP2', 'score': 19.87}, {'connected_gene': 'PNLIPRP1', 'score': 0.34}]
chr10 GH10I116615 116615602 116616290 0.2 [{'connected_gene': 'PNLIPRP2', 'score': 6.72}, {'connected_gene': 'PNLIPRP1', 'score': 0.31}]
chr10 GH10I116612 116612469 116612520 0.4 [{'connected_gene': 'PNLIPRP2', 'score': 0.44}, {'connected_gene': 'PNLIPRP1', 'score': 0.34}]
chr10 GH10I116618 116618805 116621980 1.04 [{'connected_gene': 'PNLIPRP2', 'score': 572.76}, {'connected_gene': 'PNLIPRP1', 'score': 0.29}]
chr10 GH10I116594 116594490 116594983 0.2 [{'connected_gene': 'PNLIPRP2', 'score': 11.62}, {'connected_gene': 'PNLIP', 'score': 11.42}, {'connected_gene': 'RNU6-1090P', 'score': 11.04}, {'connected_gene': 'PNLIPRP1', 'score': 0.77}]
chr10 GH10I116608 116608660 116612018 1.23 [{'connected_gene': 'PNLIPRP2', 'score': 11.42}, {'connected_gene': 'LOC105378499', 'score': 7.5}, {'connected_gene': 'PNLIPRP1', 'score': 0.37}]
chr10 GH10I116589 116589370 116591668 1.32 [{'connected_gene': 'PNLIPRP1', 'score': 550.77}, {'connected_gene': 'PNLIPRP2', 'score': 11.44}, {'connected_gene': 'PNLIP', 'score': 10.86}, {'connected_gene': 'RNU6-1090P', 'score': 10.83}]
chr10 GH10I116597 116597961 116598303 0.43 [{'connected_gene': 'PNLIPRP1', 'score': 0.44}, {'connected_gene': 'PNLIPRP2', 'score': 0.34}]
chr10 GH10I116218 116218505 116219339 0.2 [{'connected_gene': 'PNLIPRP1', 'score': 4.63}, {'connected_gene': 'GFRA1', 'score': 0.23}, {'connected_gene': 'GC10M115985', 'score': 0.13}]
chr10 GH10I116614 116614098 116614461 0.39 [{'connected_gene': 'PNLIP', 'score': 147.08}, {'connected_gene': 'PNLIPRP2', 'score': 79.03}, {'connected_gene': 'PNLIPRP1', 'score': 72.0}]
chr10 GH10I116587 116587477 116588055 0.31 [{'connected_gene': 'PNLIP', 'score': 10.86}, {'connected_gene': 'RNU6-1090P', 'score': 10.84}, {'connected_gene': 'PNLIPRP1', 'score': 0.77}, {'connected_gene': 'PNLIPP1', 'score': 0.39}]
chr10 GH10I116613 116613438 116614056 0.38 [{'connected_gene': 'LOC105378499', 'score': 7.42}, {'connected_gene': 'PNLIPRP2', 'score': 0.44}, {'connected_gene': 'PNLIPRP1', 'score': 0.34}]