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
ENST00000554615 [[39501122, 39502532], [39508234, 39510637]] None
ENST00000537403 [[39501122, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39556727, 39557927]] [[39502442, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556209]]
ENST00000307712 [[39501123, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565343], [39572235, 39572732]] [[39502442, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565322]]
ENST00000536508 [[39501950, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39516570, 39516642], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560917], [39561744, 39561831], [39562390, 39562448], [39572235, 39572279]] [[39502442, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39516570, 39516642], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560905]]
ENST00000545328 [[39502144, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560917], [39562390, 39562448], [39565101, 39565343], [39572235, 39572439]] [[39502442, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560917], [39562390, 39562448], [39565101, 39565322]]
ENST00000555363 [[39502407, 39502532], [39508234, 39508300], [39509935, 39510448]] None
ENST00000553925 [[39533752, 39534197], [39536376, 39536415]] None
ENST00000555682 [[39560573, 39560917], [39561744, 39561798]] None
ENST00000555017 [[39560776, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565343], [39572796, 39572856]] [[39560776, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565322]]
ENST00000556092 [[39560861, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565343], [39572235, 39572327], [39572401, 39572437]] [[39560861, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565322]]
ENST00000548032 [[39561964, 39562448], [39565101, 39565343], [39572235, 39572416]] [[39562342, 39562448], [39565101, 39565322]]
ENST00000555425 [[39562388, 39562448], [39565101, 39565343], [39572796, 39572867], [39578676, 39578850]] [[39562388, 39562448], [39565101, 39565322]]
ENST00000557280 [[39564101, 39564218], [39565101, 39565343], [39572235, 39572437]] [[39564181, 39564218], [39565101, 39565322]]
ENST00000553970 [[39564101, 39564221], [39565101, 39565343], [39572235, 39572447]] [[39564181, 39564221], [39565101, 39565322]]
ENST00000557437 [[39565202, 39565343], [39572235, 39572432], [39572796, 39573033]] [[39565202, 39565322]]
NM_006364 [[39501122, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565343], [39572235, 39572732]] [[39502442, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565322]]
Promoter
Chrom Start End Description
chr14 39510594 39510612 CAGE_peak_3_at_SEC23A_5end
chr14 39572307 39572340 CAGE_peak_2_at_SEC23A_5end
chr14 39572345 39572453 CAGE_peak_1_at_SEC23A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I039140 39140197 39140346 0.31 [{'connected_gene': 'GEMIN2', 'score': 12.33}, {'connected_gene': 'SEC23A', 'score': 12.31}, {'connected_gene': 'CTAGE5', 'score': 4.45}, {'connected_gene': 'GC14P039155', 'score': 0.39}, {'connected_gene': 'LOC105370459', 'score': 0.31}]
chr14 GH14I039173 39173782 39177106 2.1 [{'connected_gene': 'PNN', 'score': 579.67}, {'connected_gene': 'ENSG00000259083', 'score': 571.63}, {'connected_gene': 'RPL7AP2', 'score': 22.09}, {'connected_gene': 'GEMIN2', 'score': 11.15}, {'connected_gene': 'SEC23A', 'score': 11.14}, {'connected_gene': 'FBXO33', 'score': 10.29}, {'connected_gene': 'CTAGE5', 'score': 5.79}, {'connected_gene': 'TRAPPC6B', 'score': 5.47}, {'connected_gene': 'GC14P039155', 'score': 0.34}]
chr14 GH14I039096 39096884 39098000 1 [{'connected_gene': 'PNN', 'score': 10.62}, {'connected_gene': 'FBXO33', 'score': 10.46}, {'connected_gene': 'TRAPPC6B', 'score': 4.89}, {'connected_gene': 'SEC23A-AS1', 'score': 0.44}, {'connected_gene': 'GC14M038906', 'score': 0.44}, {'connected_gene': 'ENSG00000259121', 'score': 0.44}, {'connected_gene': 'SEC23A', 'score': 0.39}]
chr14 GH14I039187 39187091 39188299 0.59 [{'connected_gene': 'CTAGE5', 'score': 17.16}, {'connected_gene': 'MIA2', 'score': 11.6}, {'connected_gene': 'FBXO33', 'score': 10.38}, {'connected_gene': 'TRAPPC6B', 'score': 5.16}, {'connected_gene': 'SEC23A', 'score': 4.84}, {'connected_gene': 'GC14P039181', 'score': 0.44}, {'connected_gene': 'GC14P039193', 'score': 0.44}, {'connected_gene': 'GC14P039155', 'score': 0.29}]
chr14 GH14I039380 39380890 39382229 0.31 [{'connected_gene': 'CTAGE5', 'score': 24.65}, {'connected_gene': 'FBXO33', 'score': 11.07}, {'connected_gene': 'GEMIN2', 'score': 10.61}, {'connected_gene': 'SEC23A', 'score': 10.61}, {'connected_gene': 'MIA2', 'score': 10.59}, {'connected_gene': 'COILP1', 'score': 0.44}, {'connected_gene': 'ENSG00000271424', 'score': 0.39}]
chr14 GH14I039376 39376201 39378108 0.84 [{'connected_gene': 'CTAGE5', 'score': 21.58}, {'connected_gene': 'FBXO33', 'score': 11.35}, {'connected_gene': 'MIA2', 'score': 10.95}, {'connected_gene': 'GEMIN2', 'score': 10.62}, {'connected_gene': 'SEC23A', 'score': 10.61}, {'connected_gene': 'COILP1', 'score': 0.44}, {'connected_gene': 'ENSG00000271424', 'score': 0.44}]
chr14 GH14I039050 39050108 39051127 0.59 [{'connected_gene': 'CTAGE5', 'score': 5.68}, {'connected_gene': 'TRAPPC6B', 'score': 4.88}, {'connected_gene': 'GC14P039030', 'score': 0.34}, {'connected_gene': 'ENSG00000259121', 'score': 0.26}, {'connected_gene': 'SEC23A', 'score': 0.22}, {'connected_gene': 'GC14M038906', 'score': 0.22}]
chr14 GH14I039068 39068975 39070068 0.57 [{'connected_gene': 'CTAGE5', 'score': 5.65}, {'connected_gene': 'ENSG00000259121', 'score': 0.34}, {'connected_gene': 'GC14M038906', 'score': 0.28}, {'connected_gene': 'GC14P039030', 'score': 0.28}, {'connected_gene': 'SEC23A', 'score': 0.26}]
chr14 GH14I039023 39023343 39027184 0.96 [{'connected_gene': 'LINC00639', 'score': 7.49}, {'connected_gene': 'CTAGE5', 'score': 5.7}, {'connected_gene': 'SEC23A', 'score': 5.28}, {'connected_gene': 'TRAPPC6B', 'score': 4.7}, {'connected_gene': 'LOC100288846', 'score': 4.64}, {'connected_gene': 'GC14P039016', 'score': 0.44}, {'connected_gene': 'GC14P039030', 'score': 0.44}, {'connected_gene': 'GC14M038906', 'score': 0.18}]
chr14 GH14I039383 39383385 39383446 0.49 [{'connected_gene': 'FBXO33', 'score': 11.08}, {'connected_gene': 'GEMIN2', 'score': 10.61}, {'connected_gene': 'SEC23A', 'score': 10.61}, {'connected_gene': 'MIA2', 'score': 10.59}, {'connected_gene': 'CTAGE5', 'score': 10.59}, {'connected_gene': 'COILP1', 'score': 0.77}, {'connected_gene': 'ENSG00000271424', 'score': 0.39}]
chr14 GH14I039168 39168533 39171544 2.07 [{'connected_gene': 'TRAPPC6B', 'score': 555.73}, {'connected_gene': 'PNN', 'score': 19.68}, {'connected_gene': 'ENSG00000259083', 'score': 10.63}, {'connected_gene': 'FBXO33', 'score': 10.23}, {'connected_gene': 'SEC23A', 'score': 4.69}, {'connected_gene': 'GC14P039155', 'score': 0.39}, {'connected_gene': 'RPL7AP2', 'score': 0.39}]
chr14 GH14I039113 39113365 39115386 2.01 [{'connected_gene': 'LOC105370459', 'score': 550.77}, {'connected_gene': 'GEMIN2', 'score': 550.77}, {'connected_gene': 'PNN', 'score': 6.75}, {'connected_gene': 'CTAGE5', 'score': 5.68}, {'connected_gene': 'SEC23A', 'score': 5.66}, {'connected_gene': 'TRAPPC6B', 'score': 4.56}]
chr14 GH14I039145 39145077 39146030 0.95 [{'connected_gene': 'SEC23A', 'score': 16.86}, {'connected_gene': 'GEMIN2', 'score': 12.31}, {'connected_gene': 'CTAGE5', 'score': 5.24}, {'connected_gene': 'TRAPPC6B', 'score': 5.04}, {'connected_gene': 'GC14P039155', 'score': 0.44}, {'connected_gene': 'LOC105370459', 'score': 0.29}]
chr14 GH14I039061 39061048 39061586 0.62 [{'connected_gene': 'SEC23A', 'score': 11.32}, {'connected_gene': 'GEMIN2', 'score': 11.3}, {'connected_gene': 'ENSG00000259121', 'score': 0.31}, {'connected_gene': 'GC14P039030', 'score': 0.29}, {'connected_gene': 'GC14M038906', 'score': 0.26}]
chr14 GH14I039060 39060857 39061006 0.57 [{'connected_gene': 'SEC23A', 'score': 11.32}, {'connected_gene': 'GEMIN2', 'score': 11.3}, {'connected_gene': 'ENSG00000259121', 'score': 0.31}, {'connected_gene': 'GC14P039030', 'score': 0.29}, {'connected_gene': 'GC14M038906', 'score': 0.25}]
chr14 GH14I039107 39107537 39107806 0.75 [{'connected_gene': 'SEC23A', 'score': 555.66}, {'connected_gene': 'PPIAP4', 'score': 550.77}, {'connected_gene': 'GC14M038906', 'score': 550.77}, {'connected_gene': 'GC14P039109', 'score': 550.77}, {'connected_gene': 'TRAPPC6B', 'score': 5.06}]
chr14 GH14I039110 39110257 39110406 0.59 [{'connected_gene': 'SEC23A', 'score': 550.77}, {'connected_gene': 'GC14P039109', 'score': 550.77}, {'connected_gene': 'LOC105370459', 'score': 0.77}, {'connected_gene': 'GEMIN2', 'score': 0.77}]
chr14 GH14I039111 39110497 39110628 0.52 [{'connected_gene': 'SEC23A', 'score': 550.77}, {'connected_gene': 'LOC105370459', 'score': 0.77}, {'connected_gene': 'GEMIN2', 'score': 0.77}]
chr14 GH14I039101 39101270 39105087 2.06 [{'connected_gene': 'SEC23A', 'score': 555.36}, {'connected_gene': 'SEC23A-AS1', 'score': 550.77}, {'connected_gene': 'PNN', 'score': 16.63}, {'connected_gene': 'RPL7AP2', 'score': 12.0}, {'connected_gene': 'ENSG00000259083', 'score': 11.61}, {'connected_gene': 'CTAGE5', 'score': 5.66}, {'connected_gene': 'TRAPPC6B', 'score': 4.9}, {'connected_gene': 'GC14M038906', 'score': 0.77}]
chr14 GH14I039090 39090349 39090636 0.46 [{'connected_gene': 'ENSG00000259121', 'score': 550.77}, {'connected_gene': 'GEMIN2', 'score': 12.78}, {'connected_gene': 'FBXO33', 'score': 10.3}, {'connected_gene': 'CTAGE5', 'score': 5.67}, {'connected_gene': 'SEC23A', 'score': 0.37}, {'connected_gene': 'GC14M038906', 'score': 0.37}, {'connected_gene': 'GC14P039030', 'score': 0.22}]