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
ENST00000368491 [[118781934, 118786731], [118790234, 118790466], [118791699, 118791807], [118801033, 118801084], [118801558, 118801676], [118802941, 118803096], [118804868, 118805021], [118812848, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118972359, 118973054]] [[118786567, 118786731], [118790234, 118790466], [118791699, 118791807], [118801033, 118801084], [118801558, 118801676], [118802941, 118803096], [118804868, 118805021], [118812848, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118972359, 118972432]]
ENST00000368488 [[118781943, 118786731], [118790234, 118790466], [118791699, 118791807], [118801033, 118801084], [118801558, 118801676], [118802941, 118803096], [118804868, 118805021], [118812848, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118973862, 118973971], [119031198, 119031238]] [[118786567, 118786731], [118790234, 118790466], [118791699, 118791807], [118801033, 118801084], [118801558, 118801676], [118802941, 118803096], [118804868, 118805021], [118812848, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118973862, 118973944]]
ENST00000434604 [[118802965, 118803096], [118804868, 118805021], [118812848, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118973862, 118973971], [119031198, 119031238]] [[118802965, 118803096], [118804868, 118805021], [118812848, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118973862, 118973944]]
ENST00000360290 [[118812593, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118973566, 118973683]] [[118812794, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887405]]
ENST00000392500 [[118812593, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118973862, 118973971], [118985573, 118985684], [119031198, 119031231]] [[118812794, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118973862, 118973944]]
ENST00000419517 [[118812794, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118972359, 118973020]] [[118812794, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118972359, 118972432]]
ENST00000483035 [[118886197, 118887479], [118953615, 118953774], [118973566, 118973710]] None
ENST00000472713 [[118886721, 118887479], [118895153, 118895231]] None
ENST00000476150 [[118887217, 118887479], [118953615, 118953774], [118968069, 118968268]] None
ENST00000462101 [[118887254, 118887479], [118953615, 118953774], [118968069, 118968102], [118968202, 118968268]] None
ENST00000489276 [[118977925, 118978284], [118985573, 118985684]] None
NM_001042475 [[118781934, 118786731], [118790234, 118790466], [118791699, 118791807], [118801033, 118801084], [118801558, 118801676], [118802941, 118803096], [118804868, 118805021], [118812848, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118972359, 118973020]] [[118786567, 118786731], [118790234, 118790466], [118791699, 118791807], [118801033, 118801084], [118801558, 118801676], [118802941, 118803096], [118804868, 118805021], [118812848, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118972359, 118972432]]
NM_001178035 [[118781934, 118786731], [118790234, 118790466], [118791699, 118791807], [118801033, 118801084], [118801558, 118801676], [118802941, 118803096], [118804868, 118805021], [118812848, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118973862, 118973971], [119031198, 119031238]] [[118786567, 118786731], [118790234, 118790466], [118791699, 118791807], [118801033, 118801084], [118801558, 118801676], [118802941, 118803096], [118804868, 118805021], [118812848, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118973862, 118973944]]
NM_206921 [[118812593, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118972359, 118973020]] [[118812794, 118813028], [118832460, 118832578], [118844964, 118845083], [118886691, 118887479], [118953615, 118953774], [118972359, 118972432]]
Promoter
Chrom Start End Description
chr6 118895222 118895233 CAGE_peak_9_at_CEP85L_5end
chr6 118895247 118895267 CAGE_peak_4_at_CEP85L_5end
chr6 118895275 118895291 CAGE_peak_8_at_CEP85L_5end
chr6 118972685 118972768 CAGE_peak_1_at_CEP85L_5end
chr6 118972783 118972802 CAGE_peak_3_at_CEP85L_5end
chr6 118972814 118972825 CAGE_peak_5_at_CEP85L_5end
chr6 119031228 119031261 CAGE_peak_2_at_CEP85L_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I118548 118548249 118548308 0.99 [{'connected_gene': 'PLN', 'score': 550.77}, {'connected_gene': 'BRD7P3', 'score': 0.25}, {'connected_gene': 'CEP85L', 'score': 0.1}]
chr6 GH06I118576 118576093 118576410 0.24 [{'connected_gene': 'PLN', 'score': 11.8}, {'connected_gene': 'SSXP10', 'score': 0.39}, {'connected_gene': 'CEP85L', 'score': 0.12}]
chr6 GH06I118536 118536042 118538613 1.5 [{'connected_gene': 'PLN', 'score': 39.12}, {'connected_gene': 'SSXP10', 'score': 16.71}, {'connected_gene': 'BRD7P3', 'score': 0.28}, {'connected_gene': 'CEP85L', 'score': 0.09}]
chr6 GH06I118781 118781001 118781200 0.2 [{'connected_gene': 'CEP85L', 'score': 11.37}, {'connected_gene': 'FAM184A', 'score': 8.25}, {'connected_gene': 'SELENOKP3', 'score': 0.34}, {'connected_gene': 'ASF1A', 'score': 0.14}]
chr6 GH06I118743 118743432 118746853 0.66 [{'connected_gene': 'CEP85L', 'score': 11.89}, {'connected_gene': 'MCM9', 'score': 4.61}, {'connected_gene': 'SELENOKP3', 'score': 0.39}]
chr6 GH06I118707 118707766 118711208 2.45 [{'connected_gene': 'CEP85L', 'score': 562.0}, {'connected_gene': 'MCM9', 'score': 24.98}, {'connected_gene': 'SSXP10', 'score': 0.13}]
chr6 GH06I118509 118509022 118510310 0.46 [{'connected_gene': 'CEP85L', 'score': 5.54}, {'connected_gene': 'BRD7P3', 'score': 0.44}, {'connected_gene': 'PLN', 'score': 0.28}]
chr6 GH06I118787 118787303 118788668 0.76 [{'connected_gene': 'CEP85L', 'score': 11.21}, {'connected_gene': 'SELENOKP3', 'score': 9.72}, {'connected_gene': 'FAM184A', 'score': 6.14}, {'connected_gene': 'ASF1A', 'score': 0.14}]
chr6 GH06I118767 118767618 118769800 1.04 [{'connected_gene': 'CEP85L', 'score': 13.74}, {'connected_gene': 'SELENOKP3', 'score': 7.83}, {'connected_gene': 'FAM184A', 'score': 4.21}, {'connected_gene': 'MCM9', 'score': 2.43}, {'connected_gene': 'ASF1A', 'score': 0.13}]
chr6 GH06I118776 118776600 118776807 0.89 [{'connected_gene': 'CEP85L', 'score': 11.59}, {'connected_gene': 'SELENOKP3', 'score': 0.37}, {'connected_gene': 'ASF1A', 'score': 0.13}]
chr6 GH06I118773 118773078 118773227 0.2 [{'connected_gene': 'CEP85L', 'score': 10.61}, {'connected_gene': 'SELENOKP3', 'score': 0.37}, {'connected_gene': 'ASF1A', 'score': 0.13}]
chr6 GH06I118784 118784801 118785000 0.46 [{'connected_gene': 'CEP85L', 'score': 11.21}, {'connected_gene': 'SELENOKP3', 'score': 0.31}, {'connected_gene': 'ASF1A', 'score': 0.14}]
chr6 GH06I118718 118718878 118720731 0.97 [{'connected_gene': 'CEP85L', 'score': 0.44}, {'connected_gene': 'SELENOKP3', 'score': 0.28}]
chr6 GH06I118726 118726078 118726267 0.86 [{'connected_gene': 'CEP85L', 'score': 0.37}, {'connected_gene': 'SELENOKP3', 'score': 0.29}]
chr6 GH06I118736 118736317 118737646 0.43 [{'connected_gene': 'CEP85L', 'score': 12.97}, {'connected_gene': 'SELENOKP3', 'score': 0.34}]
chr6 GH06I118712 118712735 118713707 0.38 [{'connected_gene': 'CEP85L', 'score': 0.77}, {'connected_gene': 'SELENOKP3', 'score': 0.26}]
chr6 GH06I118723 118723462 118725209 0.43 [{'connected_gene': 'CEP85L', 'score': 0.39}, {'connected_gene': 'SELENOKP3', 'score': 0.29}]
chr6 GH06I118747 118747979 118749600 0.8 [{'connected_gene': 'CEP85L', 'score': 11.67}, {'connected_gene': 'SELENOKP3', 'score': 0.44}]
chr6 GH06I118649 118649161 118652552 2.16 [{'connected_gene': 'CEP85L', 'score': 555.21}, {'connected_gene': 'SSXP10', 'score': 14.72}, {'connected_gene': 'MCM9', 'score': 10.46}]
chr6 GH06I118668 118668195 118670216 0.83 [{'connected_gene': 'CEP85L', 'score': 5.39}, {'connected_gene': 'SSXP10', 'score': 0.18}]
chr6 GH06I118618 118618898 118619047 0.64 [{'connected_gene': 'CEP85L', 'score': 10.23}, {'connected_gene': 'SSXP10', 'score': 0.31}]
chr6 GH06I118679 118679600 118679800 0.38 [{'connected_gene': 'CEP85L', 'score': 11.72}, {'connected_gene': 'SSXP10', 'score': 0.16}]
chr6 GH06I118890 118890842 118897621 2.53 [{'connected_gene': 'ASF1A', 'score': 551.86}, {'connected_gene': 'MCM9', 'score': 27.06}, {'connected_gene': 'CEP85L', 'score': 13.32}, {'connected_gene': 'ENSG00000253194', 'score': 6.87}, {'connected_gene': 'FAM184A', 'score': 6.45}]
chr6 GH06I118800 118800029 118801322 1 [{'connected_gene': 'ASF1A', 'score': 11.08}, {'connected_gene': 'MCM9', 'score': 11.04}, {'connected_gene': 'CEP85L', 'score': 10.44}, {'connected_gene': 'SELENOKP3', 'score': 0.26}]
chr6 GH06I118659 118659550 118660886 1.28 [{'connected_gene': 'ASF1A', 'score': 23.3}, {'connected_gene': 'SSXP10', 'score': 14.85}, {'connected_gene': 'MCM9', 'score': 10.48}, {'connected_gene': 'NUS1', 'score': 10.22}, {'connected_gene': 'CEP85L', 'score': 0.25}]
chr6 GH06I118807 118807932 118811148 1 [{'connected_gene': 'MCM9', 'score': 21.53}, {'connected_gene': 'CEP85L', 'score': 20.32}, {'connected_gene': 'ASF1A', 'score': 11.1}, {'connected_gene': 'FAM184A', 'score': 6.03}, {'connected_gene': 'SELENOKP3', 'score': 0.23}]
chr6 GH06I118643 118643712 118643962 0.22 [{'connected_gene': 'MCM9', 'score': 2.15}, {'connected_gene': 'CEP85L', 'score': 1.53}, {'connected_gene': 'SSXP10', 'score': 0.23}]
chr6 GH06I118864 118864312 118865698 0.4 [{'connected_gene': 'MCM9', 'score': 19.35}, {'connected_gene': 'ASF1A', 'score': 11.58}, {'connected_gene': 'CEP85L', 'score': 9.63}, {'connected_gene': 'SELENOKP3', 'score': 0.14}]
chr6 GH06I118644 118644200 118644400 0.38 [{'connected_gene': 'MCM9', 'score': 10.41}, {'connected_gene': 'SSXP10', 'score': 0.22}, {'connected_gene': 'CEP85L', 'score': 0.2}]
chr6 GH06I118525 118525376 118526906 0.31 [{'connected_gene': 'BRD7P3', 'score': 0.34}, {'connected_gene': 'PLN', 'score': 0.34}, {'connected_gene': 'CEP85L', 'score': 0.09}]
chr6 GH06I118495 118495402 118496359 0.38 [{'connected_gene': 'BRD7P3', 'score': 0.44}, {'connected_gene': 'LOC105377971', 'score': 0.31}, {'connected_gene': 'CEP85L', 'score': 0.08}]
chr6 GH06I119260 119260637 119262400 1.19 [{'connected_gene': 'RNU6-194P', 'score': 11.18}, {'connected_gene': 'CEP85L', 'score': 9.97}, {'connected_gene': 'RPL13AP15', 'score': 5.29}, {'connected_gene': 'GC06P119180', 'score': 0.18}, {'connected_gene': 'MAN1A1', 'score': 0.16}]
chr6 GH06I118469 118469178 118469327 0.77 [{'connected_gene': 'LOC105377971', 'score': 0.77}, {'connected_gene': 'BRD7P3', 'score': 0.29}, {'connected_gene': 'CEP85L', 'score': 0.07}]
chr6 GH06I118780 118780401 118780800 0.2 [{'connected_gene': 'SELENOKP3', 'score': 13.76}, {'connected_gene': 'CEP85L', 'score': 11.37}, {'connected_gene': 'ASF1A', 'score': 0.14}]
chr6 GH06I118752 118752778 118752927 0.2 [{'connected_gene': 'SELENOKP3', 'score': 0.77}, {'connected_gene': 'CEP85L', 'score': 0.26}]
chr6 GH06I118510 118510943 118513791 0.31 [{'connected_gene': 'SSXP10', 'score': 16.66}, {'connected_gene': 'PLN', 'score': 12.13}, {'connected_gene': 'CEP85L', 'score': 5.46}, {'connected_gene': 'BRD7P3', 'score': 0.39}]
chr6 GH06I118551 118551001 118552177 1.07 [{'connected_gene': 'SSXP10', 'score': 14.89}, {'connected_gene': 'PLN', 'score': 0.77}, {'connected_gene': 'CEP85L', 'score': 0.1}]
chr6 GH06I118580 118580600 118583139 0.99 [{'connected_gene': 'SSXP10', 'score': 16.92}, {'connected_gene': 'PLN', 'score': 0.29}, {'connected_gene': 'CEP85L', 'score': 0.13}]
chr6 GH06I118513 118513972 118515844 0.2 [{'connected_gene': 'SSXP10', 'score': 16.67}, {'connected_gene': 'PLN', 'score': 12.14}, {'connected_gene': 'BRD7P3', 'score': 0.39}, {'connected_gene': 'CEP85L', 'score': 0.08}]
chr6 GH06I118527 118527522 118529308 0.2 [{'connected_gene': 'SSXP10', 'score': 15.25}, {'connected_gene': 'CEP85L', 'score': 5.28}, {'connected_gene': 'PLN', 'score': 0.37}, {'connected_gene': 'BRD7P3', 'score': 0.31}]
chr6 GH06I118375 118375982 118378769 0.96 [{'connected_gene': 'SSXP10', 'score': 12.01}, {'connected_gene': 'CEP85L', 'score': 4.42}, {'connected_gene': 'PLN', 'score': 1.84}, {'connected_gene': 'SLC35F1', 'score': 1.25}, {'connected_gene': 'PIR48915', 'score': 0.34}, {'connected_gene': 'GC06M118401', 'score': 0.34}, {'connected_gene': 'LOC105377967', 'score': 0.06}]
chr6 GH06I118557 118557793 118560023 0.98 [{'connected_gene': 'SSXP10', 'score': 11.12}, {'connected_gene': 'CEP85L', 'score': 9.38}, {'connected_gene': 'PLN', 'score': 0.39}]
chr6 GH06I118564 118564938 118565914 0.65 [{'connected_gene': 'SSXP10', 'score': 16.82}, {'connected_gene': 'CEP85L', 'score': 5.89}, {'connected_gene': 'PLN', 'score': 0.37}]
chr6 GH06I118505 118505272 118509010 0.75 [{'connected_gene': 'SSXP10', 'score': 16.69}, {'connected_gene': 'CEP85L', 'score': 5.66}, {'connected_gene': 'BRD7P3', 'score': 0.44}, {'connected_gene': 'PLN', 'score': 0.26}]
chr6 GH06I118664 118664898 118665288 0.4 [{'connected_gene': 'SSXP10', 'score': 14.51}, {'connected_gene': 'CEP85L', 'score': 0.26}]
chr6 GH06I118655 118655528 118657911 0.51 [{'connected_gene': 'SSXP10', 'score': 16.28}, {'connected_gene': 'CEP85L', 'score': 0.23}]
chr6 GH06I118704 118704205 118707530 1.03 [{'connected_gene': 'SSXP10', 'score': 11.0}, {'connected_gene': 'CEP85L', 'score': 5.59}]
chr6 GH06I118665 118664600 118664801 0.7 [{'connected_gene': 'SSXP10', 'score': 16.26}, {'connected_gene': 'CEP85L', 'score': 5.37}]
chr6 GH06I118680 118680712 118681047 0.49 [{'connected_gene': 'SSXP10', 'score': 13.45}, {'connected_gene': 'CEP85L', 'score': 11.74}]
chr6 GH06I118371 118371111 118375243 0.58 [{'connected_gene': 'SSXP10', 'score': 14.4}, {'connected_gene': 'RPL13AP15', 'score': 5.8}, {'connected_gene': 'CEP85L', 'score': 4.42}, {'connected_gene': 'PIR48915', 'score': 0.31}, {'connected_gene': 'GC06M118401', 'score': 0.31}, {'connected_gene': 'LOC105377967', 'score': 0.06}]