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
ENST00000337554 [[43547519, 43547610], [43555215, 43555426], [43557057, 43557196], [43558808, 43559248]] [[43555244, 43555426], [43557057, 43557196], [43558808, 43558997]]
ENST00000396265 [[43547534, 43547610], [43557057, 43557196], [43558808, 43559247]] [[43557156, 43557196], [43558808, 43559077]]
ENST00000583777 [[43547552, 43547610], [43557057, 43557196], [43558808, 43559247]] [[43557187, 43557196], [43558808, 43558997]]
ENST00000472378 [[43547578, 43547610], [43555215, 43555678]] None
ENST00000428336 [[43547904, 43548226], [43555215, 43555426], [43557057, 43557196]] [[43555244, 43555426], [43557057, 43557196]]
ENST00000329563 [[43547936, 43548133], [43555215, 43555426], [43557057, 43557196], [43558808, 43559216]] [[43555244, 43555426], [43557057, 43557196], [43558808, 43558997]]
NR_046308 [[43547519, 43547610], [43557057, 43557196], [43558808, 43559248]] None
NM_000714 [[43547519, 43547610], [43555215, 43555426], [43557057, 43557196], [43558808, 43559248]] [[43555244, 43555426], [43557057, 43557196], [43558808, 43558997]]
NM_001256531 [[43547938, 43548133], [43555215, 43555426], [43557057, 43557196], [43558808, 43559248]] [[43555244, 43555426], [43557057, 43557196], [43558808, 43558997]]
NM_001256530 [[43547940, 43548226], [43555215, 43555426], [43557057, 43557196], [43558808, 43559248]] [[43555244, 43555426], [43557057, 43557196], [43558808, 43558997]]
Promoter
Chrom Start End Description
chr22 43547533 43547590 CAGE_peak_1_at_TSPO_5end
chr22 43547877 43547911 CAGE_peak_2_at_TSPO_5end
chr22 43547942 43547955 CAGE_peak_4_at_TSPO_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I043163 43163094 43164540 0.89 [{'connected_gene': 'TSPO', 'score': 21.21}, {'connected_gene': 'MCAT', 'score': 13.21}, {'connected_gene': 'TTLL12', 'score': 0.34}]
chr22 GH22I043168 43168204 43169169 0.4 [{'connected_gene': 'TSPO', 'score': 13.15}, {'connected_gene': 'MCAT', 'score': 12.5}, {'connected_gene': 'TTLL12', 'score': 0.37}]
chr22 GH22I043154 43154921 43156457 1.08 [{'connected_gene': 'TSPO', 'score': 34.41}, {'connected_gene': 'ARFGAP3', 'score': 12.3}, {'connected_gene': 'PACSIN2', 'score': 1.23}, {'connected_gene': 'TTLL12', 'score': 0.29}]
chr22 GH22I043145 43145075 43149223 1.09 [{'connected_gene': 'TSPO', 'score': 21.6}, {'connected_gene': 'TTLL12', 'score': 4.99}, {'connected_gene': 'MCAT', 'score': 0.77}]
chr22 GH22I043159 43159375 43160680 0.79 [{'connected_gene': 'TSPO', 'score': 17.76}, {'connected_gene': 'TTLL12', 'score': 0.31}]
chr22 GH22I043171 43171104 43172173 0.51 [{'connected_gene': 'TSPO', 'score': 12.86}, {'connected_gene': 'TTLL12', 'score': 0.37}]
chr22 GH22I043173 43173471 43176669 0.38 [{'connected_gene': 'TSPO', 'score': 17.9}, {'connected_gene': 'TTLL12', 'score': 13.61}]
chr22 GH22I043160 43159135 43159194 0.7 [{'connected_gene': 'TSPO', 'score': 559.34}, {'connected_gene': 'TTLL12', 'score': 0.31}]
chr22 GH22I043150 43150780 43154156 2.04 [{'connected_gene': 'TSPO', 'score': 585.01}, {'connected_gene': 'TTLL12', 'score': 0.29}]
chr22 GH22I043156 43156615 43157615 0.52 [{'connected_gene': 'TSPO', 'score': 7.24}, {'connected_gene': 'TTLL12', 'score': 0.29}]
chr22 GH22I043121 43121113 43124663 0.49 [{'connected_gene': 'BIK', 'score': 9.15}, {'connected_gene': 'MCAT', 'score': 8.62}, {'connected_gene': 'TTLL12', 'score': 7.82}, {'connected_gene': 'TSPO', 'score': 7.5}]
chr22 GH22I042685 42685565 42690470 1.55 [{'connected_gene': 'A4GALT', 'score': 14.11}, {'connected_gene': 'CYB5R3', 'score': 11.97}, {'connected_gene': 'SERHL2', 'score': 7.2}, {'connected_gene': 'TSPO', 'score': 6.13}, {'connected_gene': 'MCAT', 'score': 1.59}, {'connected_gene': 'GC22M042670', 'score': 0.37}]
chr22 GH22I042424 42424239 42428760 0.68 [{'connected_gene': 'NDUFA6', 'score': 17.19}, {'connected_gene': 'PHF5A', 'score': 12.7}, {'connected_gene': 'XRCC6', 'score': 11.06}, {'connected_gene': 'RN7SKP80', 'score': 10.78}, {'connected_gene': 'RPL5P34', 'score': 10.28}, {'connected_gene': 'SERHL', 'score': 6.11}, {'connected_gene': 'SEPT3', 'score': 5.5}, {'connected_gene': 'NDUFA6-AS1', 'score': 4.95}, {'connected_gene': 'TSPO', 'score': 4.46}, {'connected_gene': 'ENSG00000273424', 'score': 4.33}, {'connected_gene': 'CYP2D6', 'score': 4.05}, {'connected_gene': 'GC22P042420', 'score': 0.44}, {'connected_gene': 'NFAM1', 'score': 0.39}]
chr22 GH22I043105 43105415 43105550 0.2 [{'connected_gene': 'MCAT', 'score': 12.06}, {'connected_gene': 'TSPO', 'score': 11.45}, {'connected_gene': 'ARFGAP3', 'score': 9.51}, {'connected_gene': 'GC22M043099', 'score': 0.44}, {'connected_gene': 'BIK', 'score': 0.44}]
chr22 GH22I043103 43103644 43105239 1.6 [{'connected_gene': 'MCAT', 'score': 12.06}, {'connected_gene': 'TSPO', 'score': 11.89}, {'connected_gene': 'CYB5R3', 'score': 10.74}, {'connected_gene': 'ARFGAP3', 'score': 9.77}, {'connected_gene': 'BIK', 'score': 8.9}, {'connected_gene': 'CYP2D7', 'score': 4.92}, {'connected_gene': 'GC22M043099', 'score': 0.44}]
chr22 GH22I043142 43142400 43144229 2.23 [{'connected_gene': 'MCAT', 'score': 557.22}, {'connected_gene': 'LOC100506679', 'score': 11.91}, {'connected_gene': 'RRP7BP', 'score': 11.06}, {'connected_gene': 'TTLL1', 'score': 10.65}, {'connected_gene': 'BIK', 'score': 9.13}, {'connected_gene': 'TSPO', 'score': 7.85}, {'connected_gene': 'TTLL12', 'score': 4.83}]
chr22 GH22I043185 43185496 43188519 2.26 [{'connected_gene': 'TTLL12', 'score': 583.38}, {'connected_gene': 'TSPO', 'score': 0.28}]
chr22 GH22I043182 43182567 43185080 1.31 [{'connected_gene': 'TTLL12', 'score': 27.03}, {'connected_gene': 'LOC105373051', 'score': 12.04}, {'connected_gene': 'MCAT', 'score': 11.96}, {'connected_gene': 'TSPO', 'score': 0.29}]
chr22 GH22I043099 43099855 43102478 0.85 [{'connected_gene': 'GC22M043099', 'score': 550.77}, {'connected_gene': 'TTLL1', 'score': 17.91}, {'connected_gene': 'LOC100506679', 'score': 13.06}, {'connected_gene': 'TSPO', 'score': 11.88}, {'connected_gene': 'MCAT', 'score': 11.7}, {'connected_gene': 'CYB5R3', 'score': 10.74}, {'connected_gene': 'ARFGAP3', 'score': 10.34}, {'connected_gene': 'BIK', 'score': 8.15}]