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
ENST00000372134 [[85899195, 85899349], [85901217, 85901385], [85902410, 85902510], [85903750, 85903862], [85904630, 85904772], [85908485, 85908594], [85909810, 85909999], [85910464, 85910636], [85912019, 85913001]] [[85901256, 85901385], [85902410, 85902510], [85903750, 85903862], [85904630, 85904772], [85908485, 85908594], [85909810, 85909999], [85910464, 85910636], [85912019, 85912104]]
NM_014394 [[85899184, 85899349], [85901217, 85901385], [85902410, 85902510], [85903750, 85903862], [85904630, 85904772], [85908485, 85908594], [85909810, 85909999], [85910464, 85910636], [85912019, 85913311]] [[85901256, 85901385], [85902410, 85902510], [85903750, 85903862], [85904630, 85904772], [85908485, 85908594], [85909810, 85909999], [85910464, 85910636], [85912019, 85912104]]
Promoter
Chrom Start End Description
chr10 85899247 85899273 CAGE_peak_2_at_GHITM_5end
chr10 85899276 85899324 CAGE_peak_1_at_GHITM_5end
chr10 85910525 85910537 CAGE_peak_4_at_GHITM_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I084196 84196467 84199418 0.62 [{'connected_gene': 'CDHR1', 'score': 17.15}, {'connected_gene': 'LRIT2', 'score': 15.17}, {'connected_gene': 'GHITM', 'score': 11.22}, {'connected_gene': 'PIR57101', 'score': 0.39}, {'connected_gene': 'GC10P084182', 'score': 0.37}]
chr10 GH10I084148 84148125 84148254 0.43 [{'connected_gene': 'CDHR1', 'score': 12.39}, {'connected_gene': 'ENSG00000271933', 'score': 5.49}, {'connected_gene': 'GHITM', 'score': 0.44}, {'connected_gene': 'CERNA2', 'score': 0.34}]
chr10 GH10I084135 84135325 84136786 0.52 [{'connected_gene': 'CDHR1', 'score': 10.74}, {'connected_gene': 'ENSG00000271933', 'score': 5.82}, {'connected_gene': 'GHITM', 'score': 0.77}, {'connected_gene': 'GC10M084047', 'score': 0.34}]
chr10 GH10I084200 84200783 84201880 0.91 [{'connected_gene': 'LRIT2', 'score': 15.55}, {'connected_gene': 'GHITM', 'score': 11.21}, {'connected_gene': 'CDHR1', 'score': 0.44}, {'connected_gene': 'PIR57101', 'score': 0.44}, {'connected_gene': 'GC10P084182', 'score': 0.37}]
chr10 GH10I084191 84191265 84191354 0.2 [{'connected_gene': 'LRIT2', 'score': 11.22}, {'connected_gene': 'GHITM', 'score': 11.07}, {'connected_gene': 'CDHR1', 'score': 0.77}, {'connected_gene': 'GC10P084182', 'score': 0.44}]
chr10 GH10I084188 84188481 84189108 0.2 [{'connected_gene': 'LRIT2', 'score': 11.2}, {'connected_gene': 'GHITM', 'score': 11.09}, {'connected_gene': 'CDHR1', 'score': 0.44}, {'connected_gene': 'GC10P084182', 'score': 0.44}]
chr10 GH10I084202 84202846 84203154 0.2 [{'connected_gene': 'LRIT2', 'score': 16.39}, {'connected_gene': 'LRIT1', 'score': 11.52}, {'connected_gene': 'GHITM', 'score': 11.3}, {'connected_gene': 'PIR57101', 'score': 0.77}, {'connected_gene': 'CDHR1', 'score': 0.44}]
chr10 GH10I084137 84137290 84141512 2.1 [{'connected_gene': 'GHITM', 'score': 566.96}, {'connected_gene': 'ENSG00000271933', 'score': 555.87}, {'connected_gene': 'RPS3AP5', 'score': 12.05}, {'connected_gene': 'CDHR1', 'score': 10.5}, {'connected_gene': 'C10orf99', 'score': 4.47}, {'connected_gene': 'GC10M084047', 'score': 0.31}]
chr10 GH10I084214 84214685 84214814 0.56 [{'connected_gene': 'LRIT1', 'score': 22.38}, {'connected_gene': 'GHITM', 'score': 10.88}, {'connected_gene': 'CDHR1', 'score': 6.11}, {'connected_gene': 'PIR57101', 'score': 0.44}, {'connected_gene': 'LRIT2', 'score': 0.39}]
chr10 GH10I084205 84205705 84205854 0.67 [{'connected_gene': 'LRIT1', 'score': 11.52}, {'connected_gene': 'GHITM', 'score': 11.29}, {'connected_gene': 'PIR57101', 'score': 0.77}, {'connected_gene': 'CDHR1', 'score': 0.39}]
chr10 GH10I084186 84186433 84188476 0.73 [{'connected_gene': 'ENSG00000271933', 'score': 27.29}, {'connected_gene': 'RPS3AP5', 'score': 21.8}, {'connected_gene': 'CDHR1', 'score': 21.44}, {'connected_gene': 'LRIT2', 'score': 11.2}, {'connected_gene': 'GHITM', 'score': 11.09}, {'connected_gene': 'GC10P084182', 'score': 0.44}]