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
ENST00000533966 [[67758574, 67758833], [67764242, 67764255], [67765145, 67765269], [67765828, 67765922], [67766642, 67766664]] None
ENST00000227471 [[67758574, 67759328], [67761146, 67761265], [67763081, 67763355], [67764072, 67764255], [67765145, 67765163], [67765165, 67765269], [67765828, 67765922], [67766642, 67766775], [67766988, 67767150], [67770491, 67770645], [67771126, 67771268], [67771417, 67771593]] [[67759016, 67759328], [67761146, 67761265], [67763081, 67763355], [67764072, 67764255], [67765145, 67765163], [67765165, 67765269], [67765828, 67765922], [67766642, 67766775], [67766988, 67767150], [67770491, 67770645], [67771126, 67771268], [67771417, 67771513]]
ENST00000530331 [[67758574, 67759328], [67761146, 67761265], [67763081, 67763355], [67764072, 67764255], [67765145, 67765269], [67765828, 67765922], [67766642, 67766775], [67766988, 67767150], [67770491, 67770645], [67771126, 67771268], [67771417, 67771593]] None
ENST00000525368 [[67759288, 67759328], [67761146, 67761265], [67763081, 67763451]] None
ENST00000525743 [[67765137, 67765269], [67765828, 67765922], [67766642, 67766775], [67766988, 67767150], [67770491, 67770645], [67771126, 67771268], [67771417, 67771511]] None
ENST00000533424 [[67765828, 67765922], [67766642, 67766775], [67766988, 67767150], [67770491, 67771268], [67771417, 67771526]] None
ENST00000524455 [[67765846, 67765922], [67766642, 67766845], [67766988, 67767150], [67770491, 67770645], [67771126, 67771268], [67771417, 67771516]] [[67766754, 67766845], [67766988, 67767150], [67770491, 67770645], [67771126, 67771268], [67771417, 67771513]]
ENST00000528423 [[67765856, 67765922], [67766642, 67766775], [67766988, 67767150], [67770491, 67770645], [67771126, 67771268], [67772276, 67772452]] [[67765856, 67765922], [67766642, 67766775], [67766988, 67767150], [67770491, 67770645], [67771126, 67771151]]
ENST00000528096 [[67766645, 67767150], [67770491, 67770939]] None
ENST00000530138 [[67766785, 67767150], [67770491, 67770645], [67771126, 67771268], [67771417, 67771577]] None
ENST00000531152 [[67766988, 67767150], [67770491, 67770645], [67771126, 67771539]] [[67770624, 67770645], [67771126, 67771513]]
NM_030930 [[67758570, 67759328], [67761146, 67761265], [67763081, 67763355], [67764072, 67764255], [67765145, 67765163], [67765165, 67765269], [67765828, 67765922], [67766642, 67766775], [67766988, 67767150], [67770491, 67770645], [67771126, 67771268], [67771417, 67771595]] [[67759016, 67759328], [67761146, 67761265], [67763081, 67763355], [67764072, 67764255], [67765145, 67765163], [67765165, 67765269], [67765828, 67765922], [67766642, 67766775], [67766988, 67767150], [67770491, 67770645], [67771126, 67771268], [67771417, 67771513]]
Promoter
Chrom Start End Description
chr11 67771024 67771043 CAGE_peak_2_at_UNC93B1_5end
chr11 67771243 67771255 CAGE_peak_3_at_UNC93B1_5end
chr11 67771513 67771604 CAGE_peak_1_at_UNC93B1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I067646 67646132 67649519 1.74 [{'connected_gene': 'ACY3', 'score': 557.59}, {'connected_gene': 'ALDH3B2', 'score': 27.26}, {'connected_gene': 'UNC93B1', 'score': 12.59}, {'connected_gene': 'RPL37P2', 'score': 12.07}, {'connected_gene': 'NUDT8', 'score': 5.74}, {'connected_gene': 'TBX10', 'score': 0.44}]
chr11 GH11I068002 68002100 68005240 1.97 [{'connected_gene': 'UNC93B1', 'score': 563.35}, {'connected_gene': 'NDUFS8', 'score': 10.63}, {'connected_gene': 'ENSG00000255031', 'score': 8.97}, {'connected_gene': 'ALDH3B1', 'score': 8.7}, {'connected_gene': 'MRPL21', 'score': 5.51}, {'connected_gene': 'GC11M068005', 'score': 0.44}, {'connected_gene': 'OR7E1P', 'score': 0.31}]
chr11 GH11I067996 67996330 67998657 1.05 [{'connected_gene': 'UNC93B1', 'score': 23.21}, {'connected_gene': 'OR7E1P', 'score': 0.34}]
chr11 GH11I067990 67990081 67992373 0.49 [{'connected_gene': 'UNC93B1', 'score': 11.96}, {'connected_gene': 'ALDH3B1', 'score': 8.28}, {'connected_gene': 'OR7E1P', 'score': 0.37}]
chr11 GH11I067946 67946205 67947352 0.2 [{'connected_gene': 'UNC93B1', 'score': 7.95}, {'connected_gene': 'ENSG00000254610', 'score': 0.44}, {'connected_gene': 'GC11P067938', 'score': 0.39}]
chr11 GH11I068410 68410712 68415186 1.01 [{'connected_gene': 'PPP6R3', 'score': 20.2}, {'connected_gene': 'UNC93B1', 'score': 12.59}, {'connected_gene': 'GAL', 'score': 5.18}, {'connected_gene': 'GC11P068382', 'score': 0.29}, {'connected_gene': 'GC11P068379', 'score': 0.29}, {'connected_gene': 'GC11M068452', 'score': 0.28}, {'connected_gene': 'LRP5', 'score': 0.14}]
chr11 GH11I068255 68255873 68258159 1.18 [{'connected_gene': 'C11orf24', 'score': 79.5}, {'connected_gene': 'NDUFS8', 'score': 5.14}, {'connected_gene': 'UNC93B1', 'score': 4.5}, {'connected_gene': 'PIR35627', 'score': 0.77}]
chr11 GH11I068369 68369684 68375579 1.53 [{'connected_gene': 'C11orf24', 'score': 15.27}, {'connected_gene': 'LRP5', 'score': 6.79}, {'connected_gene': 'ACY3', 'score': 4.56}, {'connected_gene': 'TCIRG1', 'score': 2.01}, {'connected_gene': 'UNC93B1', 'score': 1.74}, {'connected_gene': 'GC11P068379', 'score': 0.44}]
chr11 GH11I068265 68265610 68268423 1.64 [{'connected_gene': 'C11orf24', 'score': 629.87}, {'connected_gene': 'MRGPRF-AS1', 'score': 17.47}, {'connected_gene': 'KMT5B', 'score': 16.22}, {'connected_gene': 'ENSG00000261625', 'score': 15.92}, {'connected_gene': 'PPP6R3', 'score': 14.7}, {'connected_gene': 'MRGPRF', 'score': 14.19}, {'connected_gene': 'ENSG00000260808', 'score': 11.13}, {'connected_gene': 'TPCN2', 'score': 10.59}, {'connected_gene': 'NDUFS8', 'score': 5.14}, {'connected_gene': 'UNC93B1', 'score': 5.12}, {'connected_gene': 'PIR35627', 'score': 0.39}]
chr11 GH11I067978 67978870 67979059 0.6 [{'connected_gene': 'OR7E1P', 'score': 0.77}, {'connected_gene': 'UNC93B1', 'score': 0.31}]
chr11 GH11I067993 67993990 67994139 0.64 [{'connected_gene': 'ALDH3B1', 'score': 8.32}, {'connected_gene': 'UNC93B1', 'score': 0.39}, {'connected_gene': 'OR7E1P', 'score': 0.37}]
chr11 GH11I068008 68008003 68015658 2.25 [{'connected_gene': 'ALDH3B1', 'score': 574.34}, {'connected_gene': 'GC11M068005', 'score': 550.77}, {'connected_gene': 'LOC105369361', 'score': 14.05}, {'connected_gene': 'NDUFS8', 'score': 13.25}, {'connected_gene': 'ENSG00000255031', 'score': 11.72}, {'connected_gene': 'UNC93B1', 'score': 5.11}, {'connected_gene': 'FAM86C2P', 'score': 4.02}]
chr11 GH11I067316 67316428 67318713 1.56 [{'connected_gene': 'LOC100130987', 'score': 550.77}, {'connected_gene': 'RAD9A', 'score': 550.77}, {'connected_gene': 'SSH3', 'score': 21.83}, {'connected_gene': 'ENSG00000258297', 'score': 17.15}, {'connected_gene': 'RBM4', 'score': 14.28}, {'connected_gene': 'KMT5B', 'score': 13.82}, {'connected_gene': 'RBM14', 'score': 13.16}, {'connected_gene': 'GRK2', 'score': 12.77}, {'connected_gene': 'UNC93B1', 'score': 12.57}, {'connected_gene': 'POLD4', 'score': 12.37}, {'connected_gene': 'RN7SKP239', 'score': 12.36}, {'connected_gene': 'CLCF1', 'score': 12.32}, {'connected_gene': 'ENSG00000256514', 'score': 12.32}, {'connected_gene': 'CORO1B', 'score': 12.03}, {'connected_gene': 'RNU6-1238P', 'score': 11.74}, {'connected_gene': 'TBC1D10C', 'score': 11.72}, {'connected_gene': 'CARNS1', 'score': 11.71}, {'connected_gene': 'PPP1CA', 'score': 11.7}, {'connected_gene': 'KDM2A', 'score': 11.22}, {'connected_gene': 'MRPL11', 'score': 10.47}, {'connected_gene': 'RHOD', 'score': 6.58}]