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
ENST00000265138 [[90664540, 90667273], [90669500, 90669655], [90669930, 90670093], [90670738, 90670995], [90671327, 90671430], [90672437, 90672585], [90674510, 90674592], [90678629, 90679176]] [[90667216, 90667273], [90669500, 90669655], [90669930, 90670093], [90670738, 90670995], [90671327, 90671430], [90672437, 90672585], [90674510, 90674592], [90678629, 90678909]]
ENST00000511391 [[90666614, 90667273], [90669500, 90669662]] None
ENST00000505631 [[90670041, 90670093], [90670738, 90671161]] None
ENST00000514284 [[90670816, 90670995], [90671327, 90671430], [90674510, 90674592], [90675739, 90675906]] None
ENST00000508948 [[90671337, 90671430], [90672437, 90672585], [90674510, 90674592], [90676596, 90676837]] None
ENST00000503192 [[90671343, 90671430], [90672437, 90672585], [90674510, 90674592], [90675698, 90675968]] None
ENST00000507075 [[90672375, 90672585], [90674510, 90674592], [90678629, 90678692]] None
NR_138071 [[90664448, 90667273], [90669500, 90669693], [90669930, 90670093], [90670738, 90670995], [90671327, 90671430], [90672437, 90672585], [90674510, 90674592], [90675264, 90676114]] None
NM_001329670 [[90664448, 90667273], [90669500, 90669655], [90669930, 90670093], [90670738, 90670995], [90671327, 90671430], [90672437, 90672585], [90674510, 90674592], [90675264, 90676114]] [[90667216, 90667273], [90669500, 90669655], [90669930, 90670093], [90670738, 90670948]]
NM_001329671 [[90664448, 90667273], [90669500, 90669655], [90669930, 90670093], [90670738, 90670995], [90671327, 90671430], [90674510, 90674592], [90675264, 90676114]] [[90667216, 90667273], [90669500, 90669655], [90669930, 90670093], [90670738, 90670948]]
NR_138072 [[90664448, 90667273], [90669500, 90669693], [90669930, 90670093], [90670738, 90670995], [90671327, 90671430], [90672437, 90672585], [90674510, 90674592], [90678629, 90679190]] None
NM_020801 [[90664448, 90667273], [90669500, 90669655], [90669930, 90670093], [90670738, 90670995], [90671327, 90671430], [90672437, 90672585], [90674510, 90674592], [90678629, 90679190]] [[90667216, 90667273], [90669500, 90669655], [90669930, 90670093], [90670738, 90670995], [90671327, 90671430], [90672437, 90672585], [90674510, 90674592], [90678629, 90678909]]
NM_001329672 [[90664448, 90667273], [90669500, 90669655], [90669930, 90670093], [90670738, 90670995], [90671327, 90671430], [90674510, 90674592], [90678629, 90679190]] [[90667216, 90667273], [90669500, 90669655], [90669930, 90670093], [90670738, 90670948]]
Promoter
Chrom Start End Description
chr5 90666815 90666826 CAGE_peak_2_at_ARRDC3_5end
chr5 90675900 90675920 CAGE_peak_4_at_ARRDC3_5end
chr5 90675927 90675951 CAGE_peak_5_at_ARRDC3_5end
chr5 90676037 90676056 CAGE_peak_11_at_ARRDC3_5end
chr5 90676764 90676784 CAGE_peak_7_at_ARRDC3_5end
chr5 90679111 90679143 CAGE_peak_1_at_ARRDC3_5end
chr5 90679145 90679152 CAGE_peak_3_at_ARRDC3_5end
chr5 90679545 90679570 CAGE_peak_13_at_ARRDC3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I090557 90557949 90559423 1.9 [{'connected_gene': 'ADGRV1', 'score': 550.31}, {'connected_gene': 'ARRDC3', 'score': 11.16}, {'connected_gene': 'LYSMD3', 'score': 9.96}, {'connected_gene': 'POLR3G', 'score': 9.13}, {'connected_gene': 'LOC105379077', 'score': 0.09}]
chr5 GH05I091283 91283947 91284738 1.09 [{'connected_gene': 'LOC729040', 'score': 550.77}, {'connected_gene': 'ARRDC3', 'score': 1.46}, {'connected_gene': 'GC05P091311', 'score': 0.31}]
chr5 GH05I091161 91161670 91164165 1.39 [{'connected_gene': 'ARRDC3', 'score': 3.29}, {'connected_gene': 'GC05P091159', 'score': 0.77}, {'connected_gene': 'ENSG00000212930', 'score': 0.21}, {'connected_gene': 'ADGRV1', 'score': 0.03}]
chr5 GH05I091132 91132603 91132735 0.53 [{'connected_gene': 'ARRDC3', 'score': 2.2}, {'connected_gene': 'GC05P091129', 'score': 0.77}, {'connected_gene': 'GC05P091159', 'score': 0.31}, {'connected_gene': 'ADGRV1', 'score': 0.03}]
chr5 GH05I091058 91058104 91059045 1.04 [{'connected_gene': 'ARRDC3', 'score': 1.89}, {'connected_gene': 'TMEM251P1', 'score': 0.31}, {'connected_gene': 'GC05P091129', 'score': 0.19}, {'connected_gene': 'ADGRV1', 'score': 0.03}]
chr5 GH05I091054 91054649 91054857 0.24 [{'connected_gene': 'ARRDC3', 'score': 1.2}, {'connected_gene': 'TMEM251P1', 'score': 0.34}, {'connected_gene': 'GC05P091129', 'score': 0.19}, {'connected_gene': 'ADGRV1', 'score': 0.03}]
chr5 GH05I091052 91052927 91054200 0.87 [{'connected_gene': 'ARRDC3', 'score': 2.0}, {'connected_gene': 'TMEM251P1', 'score': 0.34}, {'connected_gene': 'GC05P091129', 'score': 0.18}, {'connected_gene': 'ADGRV1', 'score': 0.03}]
chr5 GH05I091390 91390404 91390553 0.63 [{'connected_gene': 'ARRDC3', 'score': 0.44}, {'connected_gene': 'ARRDC3-AS1', 'score': 0.39}, {'connected_gene': 'RAB5CP2', 'score': 0.17}]
chr5 GH05I091376 91376691 91385173 2.62 [{'connected_gene': 'ARRDC3', 'score': 556.65}, {'connected_gene': 'ARRDC3-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000241059', 'score': 16.41}, {'connected_gene': 'CETN3', 'score': 12.54}, {'connected_gene': 'RPS18P7', 'score': 12.31}, {'connected_gene': 'ENSG00000260871', 'score': 10.39}, {'connected_gene': 'LYSMD3', 'score': 4.55}]
chr5 GH05I091189 91189194 91191220 1.08 [{'connected_gene': 'ARRDC3', 'score': 1.32}, {'connected_gene': 'ENSG00000212930', 'score': 0.29}, {'connected_gene': 'GC05P091159', 'score': 0.29}]
chr5 GH05I091182 91182351 91184088 0.86 [{'connected_gene': 'ARRDC3', 'score': 7.82}, {'connected_gene': 'GC05P091159', 'score': 0.34}, {'connected_gene': 'ENSG00000212930', 'score': 0.26}]
chr5 GH05I091169 91169830 91170993 0.97 [{'connected_gene': 'ARRDC3', 'score': 2.45}, {'connected_gene': 'GC05P091159', 'score': 0.39}, {'connected_gene': 'ENSG00000212930', 'score': 0.23}]
chr5 GH05I091218 91218545 91220563 1.33 [{'connected_gene': 'ARRDC3', 'score': 3.0}, {'connected_gene': 'ENSG00000212930', 'score': 0.77}, {'connected_gene': 'GC05P091159', 'score': 0.21}]
chr5 GH05I091229 91229082 91229296 0.55 [{'connected_gene': 'ARRDC3', 'score': 1.36}, {'connected_gene': 'ENSG00000251093', 'score': 0.77}, {'connected_gene': 'GC05M091237', 'score': 0.44}]
chr5 GH05I091301 91301001 91302605 1.37 [{'connected_gene': 'RPS18P7', 'score': 12.59}, {'connected_gene': 'ENSG00000241059', 'score': 12.59}, {'connected_gene': 'ARRDC3', 'score': 10.64}, {'connected_gene': 'GC05P091311', 'score': 0.44}, {'connected_gene': 'LOC729040', 'score': 0.37}]
chr5 GH05I091472 91472553 91474026 0.2 [{'connected_gene': 'RAB5CP2', 'score': 0.77}, {'connected_gene': 'ARRDC3', 'score': 0.17}]
chr5 GH05I091468 91468801 91470553 0.97 [{'connected_gene': 'RAB5CP2', 'score': 0.44}, {'connected_gene': 'ARRDC3', 'score': 0.17}]
chr5 GH05I091370 91370069 91376293 0.56 [{'connected_gene': 'LYSMD3', 'score': 4.83}, {'connected_gene': 'ENSG00000241059', 'score': 4.72}, {'connected_gene': 'GC05P091368', 'score': 0.77}, {'connected_gene': 'ARRDC3-AS1', 'score': 0.44}, {'connected_gene': 'ARRDC3', 'score': 0.39}]
chr5 GH05I091419 91419704 91419853 0.59 [{'connected_gene': 'ARRDC3-AS1', 'score': 0.28}, {'connected_gene': 'ARRDC3', 'score': 0.28}, {'connected_gene': 'RAB5CP2', 'score': 0.22}]
chr5 GH05I091405 91405060 91405074 0.22 [{'connected_gene': 'ARRDC3-AS1', 'score': 0.34}, {'connected_gene': 'ARRDC3', 'score': 0.34}, {'connected_gene': 'RAB5CP2', 'score': 0.19}]
chr5 GH05I091433 91433358 91435405 0.31 [{'connected_gene': 'ENSG00000241059', 'score': 4.49}, {'connected_gene': 'RAB5CP2', 'score': 0.26}, {'connected_gene': 'ARRDC3-AS1', 'score': 0.23}, {'connected_gene': 'ARRDC3', 'score': 0.23}]
chr5 GH05I091310 91310046 91315799 1.45 [{'connected_gene': 'ENSG00000271762', 'score': 550.77}, {'connected_gene': 'LUCAT1', 'score': 550.77}, {'connected_gene': 'GC05P091311', 'score': 550.77}, {'connected_gene': 'RPS18P7', 'score': 13.08}, {'connected_gene': 'ENSG00000241059', 'score': 13.08}, {'connected_gene': 'MBLAC2', 'score': 12.51}, {'connected_gene': 'ARRDC3', 'score': 12.23}, {'connected_gene': 'ENSG00000277001', 'score': 0.77}]