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
ENST00000366595 [[236139129, 236141288], [236142294, 236142407], [236143121, 236143245], [236143795, 236143953], [236144910, 236145082], [236148678, 236148805], [236154185, 236154358], [236156944, 236157172], [236187369, 236187513], [236189195, 236189441], [236192849, 236193050], [236195700, 236195952], [236201403, 236201553], [236205209, 236205592], [236208756, 236208983], [236211989, 236212289], [236228154, 236228409]] [[236141166, 236141288], [236142294, 236142407], [236143121, 236143245], [236143795, 236143953], [236144910, 236145082], [236148678, 236148805], [236154185, 236154358], [236156944, 236157172], [236187369, 236187513], [236189195, 236189441], [236192849, 236193050], [236195700, 236195952], [236201403, 236201553], [236205209, 236205592], [236208756, 236208983], [236211989, 236212289], [236228154, 236228379]]
ENST00000264187 [[236139129, 236141288], [236142294, 236142407], [236143121, 236143245], [236143795, 236143953], [236144910, 236145082], [236148678, 236148805], [236154185, 236154358], [236156944, 236157172], [236175220, 236175343], [236176710, 236176860], [236180447, 236180573], [236187369, 236187513], [236189195, 236189441], [236192849, 236193050], [236195700, 236195952], [236201403, 236201553], [236205209, 236205592], [236208756, 236208983], [236211989, 236212289], [236228154, 236228462]] [[236141166, 236141288], [236142294, 236142407], [236143121, 236143245], [236143795, 236143953], [236144910, 236145082], [236148678, 236148805], [236154185, 236154358], [236156944, 236157172], [236175220, 236175343], [236176710, 236176860], [236180447, 236180573], [236187369, 236187513], [236189195, 236189441], [236192849, 236193050], [236195700, 236195952], [236201403, 236201553], [236205209, 236205592], [236208756, 236208983], [236211989, 236212289], [236228154, 236228379]]
NM_002508 [[236139129, 236141288], [236142294, 236142407], [236143121, 236143245], [236143795, 236143953], [236144910, 236145082], [236148678, 236148805], [236154185, 236154358], [236156944, 236157172], [236175220, 236175343], [236176710, 236176860], [236180447, 236180573], [236187369, 236187513], [236189195, 236189441], [236192849, 236193050], [236195700, 236195952], [236201403, 236201553], [236205209, 236205592], [236208756, 236208983], [236211989, 236212289], [236228154, 236228481]] [[236141166, 236141288], [236142294, 236142407], [236143121, 236143245], [236143795, 236143953], [236144910, 236145082], [236148678, 236148805], [236154185, 236154358], [236156944, 236157172], [236175220, 236175343], [236176710, 236176860], [236180447, 236180573], [236187369, 236187513], [236189195, 236189441], [236192849, 236193050], [236195700, 236195952], [236201403, 236201553], [236205209, 236205592], [236208756, 236208983], [236211989, 236212289], [236228154, 236228379]]
Promoter
Chrom Start End Description
chr1 236228379 236228402 CAGE_peak_1_at_NID1_5end
chr1 236228403 236228414 CAGE_peak_3_at_NID1_5end
chr1 236228417 236228446 CAGE_peak_2_at_NID1_5end
chr1 236228490 236228507 CAGE_peak_4_at_NID1_5end
chr1 236228513 236228516 CAGE_peak_5_at_NID1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I236090 236090293 236091688 0.68 [{'connected_gene': 'ACTN2', 'score': 9.32}, {'connected_gene': 'NID1', 'score': 5.71}, {'connected_gene': 'LOC343508', 'score': 0.37}]
chr1 GH01I236062 236062800 236069062 2.79 [{'connected_gene': 'NID1', 'score': 555.45}, {'connected_gene': 'GC01P236064', 'score': 550.77}, {'connected_gene': 'ARID4B', 'score': 66.39}, {'connected_gene': 'ENSG00000273058', 'score': 43.03}, {'connected_gene': 'GGPS1', 'score': 32.23}, {'connected_gene': 'ENSG00000230325', 'score': 27.24}, {'connected_gene': 'HEATR1', 'score': 25.01}, {'connected_gene': 'RPS21P1', 'score': 23.66}, {'connected_gene': 'MTR', 'score': 19.29}, {'connected_gene': 'LYST', 'score': 2.71}, {'connected_gene': 'LGALS8', 'score': 2.56}, {'connected_gene': 'GPR137B', 'score': 2.15}, {'connected_gene': 'LOC343508', 'score': 0.26}]
chr1 GH01I236014 236014678 236017251 0.65 [{'connected_gene': 'NID1', 'score': 16.8}, {'connected_gene': 'ENSG00000252822', 'score': 11.72}, {'connected_gene': 'LYST', 'score': 4.79}, {'connected_gene': 'LOC105373212', 'score': 0.26}]
chr1 GH01I236017 236017771 236022390 0.87 [{'connected_gene': 'NID1', 'score': 15.51}, {'connected_gene': 'ENSG00000252822', 'score': 11.19}, {'connected_gene': 'LYST', 'score': 10.16}, {'connected_gene': 'LOC105373212', 'score': 0.25}]
chr1 GH01I236008 236008982 236011169 0.97 [{'connected_gene': 'NID1', 'score': 16.15}, {'connected_gene': 'ENSG00000252822', 'score': 11.69}, {'connected_gene': 'LOC105373212', 'score': 0.28}]
chr1 GH01I236039 236039512 236040616 1.1 [{'connected_gene': 'NID1', 'score': 17.65}, {'connected_gene': 'ENSG00000252822', 'score': 12.55}, {'connected_gene': 'RNU5E-2P', 'score': 10.0}, {'connected_gene': 'LOC105373212', 'score': 0.2}]
chr1 GH01I236516 236516618 236518914 1.8 [{'connected_gene': 'LGALS8', 'score': 557.13}, {'connected_gene': 'HEATR1', 'score': 40.47}, {'connected_gene': 'ENSG00000230325', 'score': 31.02}, {'connected_gene': 'ENSG00000273058', 'score': 22.55}, {'connected_gene': 'MTR', 'score': 20.37}, {'connected_gene': 'NID1', 'score': 12.39}, {'connected_gene': 'RPL35P1', 'score': 10.34}, {'connected_gene': 'LDHAP2', 'score': 10.32}, {'connected_gene': 'GC01P236501', 'score': 0.37}]
chr1 GH01I236096 236096641 236098161 0.43 [{'connected_gene': 'LGALS8', 'score': 20.8}, {'connected_gene': 'LGALS8-AS1', 'score': 10.65}, {'connected_gene': 'ARID4B', 'score': 10.27}, {'connected_gene': 'LOC343508', 'score': 0.39}, {'connected_gene': 'NID1', 'score': 0.29}]
chr1 GH01I236109 236109401 236109800 0.95 [{'connected_gene': 'LOC343508', 'score': 557.11}, {'connected_gene': 'NID1', 'score': 0.26}]
chr1 GH01I236003 236003581 236004476 0.54 [{'connected_gene': 'LOC105373212', 'score': 0.29}, {'connected_gene': 'ENSG00000252822', 'score': 0.22}, {'connected_gene': 'NID1', 'score': 0.21}]
chr1 GH01I235986 235986800 235987600 1.2 [{'connected_gene': 'RNU5E-2P', 'score': 10.39}, {'connected_gene': 'GPR137B', 'score': 2.25}, {'connected_gene': 'LOC105373212', 'score': 0.39}, {'connected_gene': 'ENSG00000252822', 'score': 0.19}, {'connected_gene': 'NID1', 'score': 0.18}]
chr1 GH01I235990 235990582 235990730 0.38 [{'connected_gene': 'RNU5E-2P', 'score': 10.9}, {'connected_gene': 'LOC105373212', 'score': 0.37}, {'connected_gene': 'NID1', 'score': 0.19}, {'connected_gene': 'ENSG00000252822', 'score': 0.19}]
chr1 GH01I236103 236103741 236103910 0.73 [{'connected_gene': 'LGALS8-AS1', 'score': 10.65}, {'connected_gene': 'LGALS8', 'score': 10.65}, {'connected_gene': 'LOC343508', 'score': 0.44}, {'connected_gene': 'NID1', 'score': 0.28}]
chr1 GH01I235997 235997715 236002302 1.59 [{'connected_gene': 'ENSG00000273058', 'score': 10.62}, {'connected_gene': 'ENSG00000229291', 'score': 4.91}, {'connected_gene': 'GPR137B', 'score': 2.31}, {'connected_gene': 'LOC105373212', 'score': 0.31}, {'connected_gene': 'ENSG00000252822', 'score': 0.21}, {'connected_gene': 'NID1', 'score': 0.2}]
chr1 GH01I236514 236514578 236516354 1.09 [{'connected_gene': 'ENSG00000230325', 'score': 21.92}, {'connected_gene': 'HEATR1', 'score': 19.21}, {'connected_gene': 'ENSG00000273058', 'score': 13.92}, {'connected_gene': 'NID1', 'score': 12.39}, {'connected_gene': 'LGALS8', 'score': 8.55}, {'connected_gene': 'GC01P236501', 'score': 0.39}]
chr1 GH01I236026 236026475 236026698 0.22 [{'connected_gene': 'ENSG00000252822', 'score': 0.29}, {'connected_gene': 'NID1', 'score': 0.28}, {'connected_gene': 'LOC105373212', 'score': 0.23}]
chr1 GH01I236035 236035642 236036134 0.31 [{'connected_gene': 'ENSG00000252822', 'score': 0.34}, {'connected_gene': 'NID1', 'score': 0.31}, {'connected_gene': 'LOC105373212', 'score': 0.21}]
chr1 GH01I236051 236051262 236051859 0.31 [{'connected_gene': 'ENSG00000252822', 'score': 0.44}, {'connected_gene': 'NID1', 'score': 0.39}, {'connected_gene': 'LOC105373212', 'score': 0.18}]
chr1 GH01I236057 236057867 236058868 1.2 [{'connected_gene': 'ENSG00000252822', 'score': 0.77}, {'connected_gene': 'NID1', 'score': 0.44}, {'connected_gene': 'LOC105373212', 'score': 0.17}]
chr1 GH01I236030 236030701 236030850 0.2 [{'connected_gene': 'ENSG00000252822', 'score': 0.31}, {'connected_gene': 'NID1', 'score': 0.29}, {'connected_gene': 'LOC105373212', 'score': 0.22}]
chr1 GH01I235983 235983037 235986118 1.24 [{'connected_gene': 'ENSG00000252822', 'score': 11.25}, {'connected_gene': 'NID1', 'score': 11.25}, {'connected_gene': 'RNU5E-2P', 'score': 11.19}, {'connected_gene': 'GNG4', 'score': 10.44}, {'connected_gene': 'ENSG00000229291', 'score': 4.58}, {'connected_gene': 'GPR137B', 'score': 2.73}, {'connected_gene': 'LOC105373212', 'score': 0.39}]
chr1 GH01I235980 235980401 235981400 0.58 [{'connected_gene': 'ENSG00000252822', 'score': 11.24}, {'connected_gene': 'NID1', 'score': 11.23}, {'connected_gene': 'RNU5E-2P', 'score': 11.19}, {'connected_gene': 'GNG4', 'score': 10.44}, {'connected_gene': 'LOC105373212', 'score': 0.44}]