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
ENST00000395211 [[100263461, 100263549], [100286422, 100286590], [100308466, 100308623], [100315562, 100315682], [100325013, 100325103], [100326319, 100326450], [100328129, 100328237], [100331175, 100331319], [100353572, 100353717], [100361915, 100364023]] [[100286470, 100286590], [100308466, 100308623], [100315562, 100315682], [100325013, 100325103], [100326319, 100326450], [100328129, 100328237], [100331175, 100331319], [100353572, 100353717], [100361915, 100361980]]
ENST00000259365 [[100263920, 100264085], [100286422, 100286590], [100308466, 100308623], [100315562, 100315682], [100325013, 100325103], [100326319, 100326450], [100328129, 100328237], [100331175, 100331319], [100353572, 100353717], [100361915, 100364030]] [[100286470, 100286590], [100308466, 100308623], [100315562, 100315682], [100325013, 100325103], [100326319, 100326450], [100328129, 100328237], [100331175, 100331319], [100353572, 100353717], [100361915, 100361980]]
ENST00000375175 [[100317716, 100317993], [100325013, 100325103], [100326319, 100326450], [100328129, 100328237], [100331175, 100331319], [100353572, 100353717], [100361915, 100363536]] [[100317977, 100317993], [100325013, 100325103], [100326319, 100326450], [100328129, 100328237], [100331175, 100331319], [100353572, 100353717], [100361915, 100361980]]
NM_001166116 [[100263461, 100263549], [100286422, 100286590], [100308466, 100308623], [100315562, 100315682], [100325013, 100325103], [100326319, 100326450], [100328129, 100328237], [100331175, 100331319], [100353572, 100353717], [100361915, 100364025]] [[100286470, 100286590], [100308466, 100308623], [100315562, 100315682], [100325013, 100325103], [100326319, 100326450], [100328129, 100328237], [100331175, 100331319], [100353572, 100353717], [100361915, 100361980]]
NM_003275 [[100263920, 100264085], [100286422, 100286590], [100308466, 100308623], [100315562, 100315682], [100325013, 100325103], [100326319, 100326450], [100328129, 100328237], [100331175, 100331319], [100353572, 100353717], [100361915, 100364025]] [[100286470, 100286590], [100308466, 100308623], [100315562, 100315682], [100325013, 100325103], [100326319, 100326450], [100328129, 100328237], [100331175, 100331319], [100353572, 100353717], [100361915, 100361980]]
Promoter
Chrom Start End Description
chr9 100263912 100263988 CAGE_peak_1_at_TMOD1_5end
chr9 100263992 100264003 CAGE_peak_2_at_TMOD1_5end
chr9 100264007 100264012 CAGE_peak_5_at_TMOD1_5end
chr9 100264015 100264024 CAGE_peak_3_at_TMOD1_5end
chr9 100264031 100264042 CAGE_peak_4_at_TMOD1_5end
chr9 100264044 100264051 CAGE_peak_6_at_TMOD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I097501 97501151 97505818 2.49 [{'connected_gene': 'TMOD1', 'score': 555.57}, {'connected_gene': 'HEMGN', 'score': 6.55}, {'connected_gene': 'VN1R51P', 'score': 6.23}, {'connected_gene': 'ANP32B', 'score': 3.36}, {'connected_gene': 'LOC105376168', 'score': 0.39}]
chr9 GH09I097554 97554642 97559750 1.52 [{'connected_gene': 'TMOD1', 'score': 6.71}, {'connected_gene': 'TRMO', 'score': 5.76}, {'connected_gene': 'PIR34153', 'score': 0.28}, {'connected_gene': 'LOC105376168', 'score': 0.28}]
chr9 GH09I097522 97522828 97523931 0.2 [{'connected_gene': 'TMOD1', 'score': 11.77}, {'connected_gene': 'TDRD7', 'score': 10.26}, {'connected_gene': 'LOC105376168', 'score': 6.99}, {'connected_gene': 'PIR34153', 'score': 0.2}]
chr9 GH09I097520 97520197 97522445 0.31 [{'connected_gene': 'TMOD1', 'score': 11.77}, {'connected_gene': 'TDRD7', 'score': 10.26}, {'connected_gene': 'LOC105376168', 'score': 0.77}, {'connected_gene': 'PIR34153', 'score': 0.19}]
chr9 GH09I097468 97468239 97469853 0.79 [{'connected_gene': 'TMOD1', 'score': 11.58}, {'connected_gene': 'TDRD7', 'score': 11.05}]
chr9 GH09I097703 97703092 97705077 1.06 [{'connected_gene': 'TMOD1', 'score': 10.7}, {'connected_gene': 'FOXE1', 'score': 10.58}, {'connected_gene': 'KRT18P13', 'score': 9.31}, {'connected_gene': 'TRMO', 'score': 7.24}, {'connected_gene': 'TSTD2', 'score': 6.78}, {'connected_gene': 'ENSG00000260677', 'score': 0.28}]
chr9 GH09I097575 97575001 97576200 0.38 [{'connected_gene': 'TMOD1', 'score': 20.41}, {'connected_gene': 'LOC105376168', 'score': 12.07}, {'connected_gene': 'TDRD7', 'score': 10.18}, {'connected_gene': 'TRMO', 'score': 4.33}, {'connected_gene': 'PIR34153', 'score': 0.37}]
chr9 GH09I097524 97524620 97530389 1.22 [{'connected_gene': 'TMOD1', 'score': 11.74}, {'connected_gene': 'LOC105376168', 'score': 11.43}, {'connected_gene': 'TDRD7', 'score': 10.25}, {'connected_gene': 'ANKRD18CP', 'score': 5.84}, {'connected_gene': 'ENSG00000203279', 'score': 4.75}, {'connected_gene': 'AAED1', 'score': 4.63}, {'connected_gene': 'CCDC180', 'score': 4.21}, {'connected_gene': 'PIR34153', 'score': 0.2}]
chr9 GH09I097570 97570402 97572183 0.69 [{'connected_gene': 'TMOD1', 'score': 19.28}, {'connected_gene': 'LOC105376168', 'score': 12.08}, {'connected_gene': 'TDRD7', 'score': 10.19}, {'connected_gene': 'PIR34153', 'score': 0.34}]
chr9 GH09I097563 97563385 97565250 1.11 [{'connected_gene': 'TMOD1', 'score': 4.38}, {'connected_gene': 'PIR34153', 'score': 0.31}, {'connected_gene': 'LOC105376168', 'score': 0.25}]
chr9 GH09I097567 97567164 97568528 1.22 [{'connected_gene': 'TRMO', 'score': 4.17}, {'connected_gene': 'TMOD1', 'score': 2.31}, {'connected_gene': 'PIR34153', 'score': 0.31}, {'connected_gene': 'LOC105376168', 'score': 0.23}]
chr9 GH09I097561 97560111 97560271 0.58 [{'connected_gene': 'TRMO', 'score': 4.32}, {'connected_gene': 'PIR34153', 'score': 0.29}, {'connected_gene': 'LOC105376168', 'score': 0.26}, {'connected_gene': 'TMOD1', 'score': 0.22}]
chr9 GH09I097560 97560698 97563036 0.38 [{'connected_gene': 'TRMO', 'score': 4.68}, {'connected_gene': 'PIR34153', 'score': 0.29}, {'connected_gene': 'LOC105376168', 'score': 0.26}, {'connected_gene': 'TMOD1', 'score': 0.21}]
chr9 GH09I097631 97631431 97635396 2.29 [{'connected_gene': 'NCBP1', 'score': 582.53}, {'connected_gene': 'TSTD2', 'score': 567.37}, {'connected_gene': 'MFSD14C', 'score': 22.19}, {'connected_gene': 'ZNF782', 'score': 21.82}, {'connected_gene': 'NUTM2G', 'score': 20.22}, {'connected_gene': 'ZNF322P1', 'score': 13.57}, {'connected_gene': 'ENSG00000224848', 'score': 12.63}, {'connected_gene': 'ZNF510', 'score': 12.18}, {'connected_gene': 'ENSG00000254633', 'score': 12.02}, {'connected_gene': 'XPA', 'score': 10.96}, {'connected_gene': 'LOC105376171', 'score': 10.79}, {'connected_gene': 'TDRD7', 'score': 10.74}, {'connected_gene': 'LOC441454', 'score': 10.57}, {'connected_gene': 'TMOD1', 'score': 9.21}, {'connected_gene': 'PIR37261', 'score': 0.31}, {'connected_gene': 'GC09P097607', 'score': 0.31}]
chr9 GH09I097597 97597891 97600068 0.97 [{'connected_gene': 'KRT18P13', 'score': 9.08}, {'connected_gene': 'TSTD2', 'score': 7.33}, {'connected_gene': 'PIR41890', 'score': 0.77}, {'connected_gene': 'PIR34153', 'score': 0.44}, {'connected_gene': 'TMOD1', 'score': 0.15}]
chr9 GH09I097435 97435994 97438568 0.42 [{'connected_gene': 'TDRD7', 'score': 11.41}, {'connected_gene': 'ENSG00000254633', 'score': 4.22}, {'connected_gene': 'TMOD1', 'score': 0.21}]
chr9 GH09I097418 97418426 97420108 0.76 [{'connected_gene': 'TDRD7', 'score': 0.44}, {'connected_gene': 'TMOD1', 'score': 0.18}]
chr9 GH09I097430 97430459 97430608 0.2 [{'connected_gene': 'TDRD7', 'score': 0.37}, {'connected_gene': 'TMOD1', 'score': 0.19}]
chr9 GH09I097411 97411382 97413708 2.03 [{'connected_gene': 'TDRD7', 'score': 550.77}, {'connected_gene': 'NCBP1', 'score': 22.38}, {'connected_gene': 'ZNF782', 'score': 20.3}, {'connected_gene': 'MFSD14C', 'score': 13.07}, {'connected_gene': 'NUTM2G', 'score': 10.76}, {'connected_gene': 'ZNF322P1', 'score': 9.71}, {'connected_gene': 'FAM220CP', 'score': 4.65}, {'connected_gene': 'CCDC180', 'score': 4.27}, {'connected_gene': 'TMOD1', 'score': 0.17}]
chr9 GH09I097540 97540031 97540706 0.31 [{'connected_gene': 'TDRD7', 'score': 9.78}, {'connected_gene': 'LOC105376168', 'score': 0.34}, {'connected_gene': 'TMOD1', 'score': 0.28}, {'connected_gene': 'PIR34153', 'score': 0.23}]
chr9 GH09I097531 97531466 97532519 0.58 [{'connected_gene': 'TDRD7', 'score': 10.18}, {'connected_gene': 'LOC105376168', 'score': 0.39}, {'connected_gene': 'TMOD1', 'score': 0.29}, {'connected_gene': 'PIR34153', 'score': 0.21}]
chr9 GH09I097533 97533409 97534096 0.31 [{'connected_gene': 'TDRD7', 'score': 10.18}, {'connected_gene': 'LOC105376168', 'score': 8.91}, {'connected_gene': 'ANKRD18CP', 'score': 5.07}, {'connected_gene': 'TMOD1', 'score': 0.29}, {'connected_gene': 'PIR34153', 'score': 0.22}]
chr9 GH09I097534 97534792 97536883 0.4 [{'connected_gene': 'TDRD7', 'score': 9.78}, {'connected_gene': 'LOC105376168', 'score': 8.89}, {'connected_gene': 'ANKRD18CP', 'score': 5.99}, {'connected_gene': 'TMOD1', 'score': 0.29}, {'connected_gene': 'PIR34153', 'score': 0.22}]
chr9 GH09I097537 97537011 97537719 0.38 [{'connected_gene': 'TDRD7', 'score': 9.78}, {'connected_gene': 'LOC105376168', 'score': 8.86}, {'connected_gene': 'ANKRD18CP', 'score': 6.19}, {'connected_gene': 'ENSG00000203279', 'score': 4.09}, {'connected_gene': 'TMOD1', 'score': 0.28}, {'connected_gene': 'PIR34153', 'score': 0.22}]
chr9 GH09I097510 97510253 97512303 1.34 [{'connected_gene': 'ZNF510', 'score': 39.12}, {'connected_gene': 'ENSG00000224848', 'score': 34.09}, {'connected_gene': 'ZNF322P1', 'score': 32.05}, {'connected_gene': 'NCBP1', 'score': 31.36}, {'connected_gene': 'XPA', 'score': 28.62}, {'connected_gene': 'TSTD2', 'score': 26.74}, {'connected_gene': 'LOC105376168', 'score': 23.41}, {'connected_gene': 'LOC105376171', 'score': 19.05}, {'connected_gene': 'ZNF782', 'score': 14.1}, {'connected_gene': 'LOC441455', 'score': 11.82}, {'connected_gene': 'CCDC180', 'score': 10.66}, {'connected_gene': 'LOC441454', 'score': 10.58}, {'connected_gene': 'TMOD1', 'score': 0.39}]
chr9 GH09I097636 97636801 97637200 0.43 [{'connected_gene': 'LOC105376171', 'score': 550.77}, {'connected_gene': 'TMOD1', 'score': 10.56}, {'connected_gene': 'NCBP1', 'score': 0.77}, {'connected_gene': 'PIR56620', 'score': 0.29}]
chr9 GH09I097512 97512855 97515424 0.38 [{'connected_gene': 'LOC105376168', 'score': 20.33}, {'connected_gene': 'TMOD1', 'score': 0.39}]
chr9 GH09I097544 97544999 97546530 0.49 [{'connected_gene': 'LOC105376168', 'score': 7.45}, {'connected_gene': 'TMOD1', 'score': 0.26}, {'connected_gene': 'PIR34153', 'score': 0.25}]
chr9 GH09I097517 97517391 97519929 1.15 [{'connected_gene': 'LOC105376168', 'score': 550.77}, {'connected_gene': 'ENSG00000254633', 'score': 4.2}, {'connected_gene': 'TMOD1', 'score': 0.37}, {'connected_gene': 'PIR34153', 'score': 0.19}]
chr9 GH09I097515 97515433 97517128 0.2 [{'connected_gene': 'LOC105376168', 'score': 575.27}, {'connected_gene': 'TMOD1', 'score': 0.37}]
chr9 GH09I097548 97548239 97549100 0.38 [{'connected_gene': 'LOC105376168', 'score': 8.36}, {'connected_gene': 'GAS2L1P2', 'score': 4.15}, {'connected_gene': 'PIR34153', 'score': 0.26}, {'connected_gene': 'TMOD1', 'score': 0.25}]
chr9 GH09I097505 97505920 97509445 0.66 [{'connected_gene': 'LOC105376168', 'score': 13.41}, {'connected_gene': 'TDRD7', 'score': 10.3}, {'connected_gene': 'TMOD1', 'score': 0.44}]
chr9 GH09I097593 97593370 97595070 0.43 [{'connected_gene': 'PIR34153', 'score': 550.77}, {'connected_gene': 'TMOD1', 'score': 11.84}, {'connected_gene': 'LOC105376168', 'score': 11.45}, {'connected_gene': 'TDRD7', 'score': 10.59}, {'connected_gene': 'PIR41890', 'score': 0.44}]
chr9 GH09I097596 97596999 97597148 0.2 [{'connected_gene': 'PIR34153', 'score': 0.77}, {'connected_gene': 'PIR41890', 'score': 0.77}, {'connected_gene': 'TMOD1', 'score': 0.15}]
chr9 GH09I097600 97600656 97602520 0.2 [{'connected_gene': 'PIR46089', 'score': 550.77}, {'connected_gene': 'PIR42915', 'score': 550.77}, {'connected_gene': 'PIR34918', 'score': 550.77}, {'connected_gene': 'GC09M097606', 'score': 550.77}, {'connected_gene': 'PIR41890', 'score': 550.77}, {'connected_gene': 'GAS2L1P2', 'score': 4.08}, {'connected_gene': 'TSTD2', 'score': 0.29}, {'connected_gene': 'TMOD1', 'score': 0.15}]
chr9 GH09I097424 97424975 97426415 0.31 [{'connected_gene': 'ENSG00000254633', 'score': 4.24}, {'connected_gene': 'TDRD7', 'score': 0.39}, {'connected_gene': 'TMOD1', 'score': 0.18}]
chr9 GH09I097555 97554193 97554443 0.31 [{'connected_gene': 'PIR34153', 'score': 0.28}, {'connected_gene': 'LOC105376168', 'score': 0.28}, {'connected_gene': 'TMOD1', 'score': 0.23}]
chr9 GH09I097559 97559880 97560080 0.2 [{'connected_gene': 'PIR34153', 'score': 0.29}, {'connected_gene': 'LOC105376168', 'score': 0.26}, {'connected_gene': 'TMOD1', 'score': 0.22}]

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