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
ENST00000380871 [[23536205, 23539152], [23540116, 23540440]] [[23538733, 23539152], [23540116, 23540402]]
ENST00000523261 [[23538500, 23539152], [23540116, 23540144], [23540369, 23540402]] [[23538733, 23539152], [23540116, 23540144], [23540369, 23540402]]
NM_001256339 [[23536205, 23539152], [23540116, 23540144], [23540369, 23540402]] [[23538733, 23539152], [23540116, 23540144], [23540369, 23540402]]
NR_046072 [[23536205, 23538655], [23540416, 23540434]] None
NM_006167 [[23536205, 23539152], [23540116, 23540450]] [[23538733, 23539152], [23540116, 23540402]]
Promoter
Chrom Start End Description
chr8 23540441 23540466 CAGE_peak_1_at_NKX3-1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I023692 23692748 23692877 0.67 [{'connected_gene': 'ENTPD4', 'score': 11.18}, {'connected_gene': 'LOC107986927', 'score': 10.55}, {'connected_gene': 'LOXL2', 'score': 10.35}, {'connected_gene': 'NKX3-1', 'score': 0.44}, {'connected_gene': 'NKX2-6', 'score': 0.39}]
chr8 GH08I023891 23891811 23893497 0.58 [{'connected_gene': 'STC1', 'score': 10.83}, {'connected_gene': 'NKX3-1', 'score': 9.83}, {'connected_gene': 'GC08P023881', 'score': 0.39}, {'connected_gene': 'GC08P023963', 'score': 0.19}]
chr8 GH08I023888 23888986 23890731 0.77 [{'connected_gene': 'STC1', 'score': 10.83}, {'connected_gene': 'NKX3-1', 'score': 9.83}, {'connected_gene': 'GC08P023881', 'score': 0.44}, {'connected_gene': 'GC08P023963', 'score': 0.19}]
chr8 GH08I023486 23486921 23488119 0.43 [{'connected_gene': 'SLC25A37', 'score': 22.3}, {'connected_gene': 'ENTPD4', 'score': 16.26}, {'connected_gene': 'ENSG00000253390', 'score': 10.95}, {'connected_gene': 'NKX3-1', 'score': 10.41}, {'connected_gene': 'LOC646708', 'score': 0.77}, {'connected_gene': 'LOC105379327', 'score': 0.44}]
chr8 GH08I023488 23488658 23488774 0.2 [{'connected_gene': 'SLC25A37', 'score': 11.57}, {'connected_gene': 'ENTPD4', 'score': 10.93}, {'connected_gene': 'ENSG00000253390', 'score': 10.93}, {'connected_gene': 'NKX3-1', 'score': 10.41}, {'connected_gene': 'LOC646708', 'score': 0.44}, {'connected_gene': 'LOC105379327', 'score': 0.44}]
chr8 GH08I023557 23557683 23562501 1.55 [{'connected_gene': 'SLC25A37', 'score': 19.15}, {'connected_gene': 'ENTPD4', 'score': 14.79}, {'connected_gene': 'ENSG00000253390', 'score': 10.67}, {'connected_gene': 'NKX3-1', 'score': 10.56}, {'connected_gene': 'RNU4-71P', 'score': 10.46}, {'connected_gene': 'ENSG00000253200', 'score': 5.06}, {'connected_gene': 'EGR3', 'score': 5.03}, {'connected_gene': 'TNFRSF10C', 'score': 1.6}, {'connected_gene': 'TNFRSF10B', 'score': 1.54}, {'connected_gene': 'GC08M023551', 'score': 0.44}]
chr8 GH08I023491 23491970 23492075 0.2 [{'connected_gene': 'SLC25A37', 'score': 11.64}, {'connected_gene': 'ENTPD4', 'score': 11.11}, {'connected_gene': 'ENSG00000253390', 'score': 11.11}, {'connected_gene': 'NKX3-1', 'score': 10.38}, {'connected_gene': 'LOC105379327', 'score': 0.77}, {'connected_gene': 'LOC646708', 'score': 0.44}]
chr8 GH08I023489 23489504 23490513 0.85 [{'connected_gene': 'SLC25A37', 'score': 24.54}, {'connected_gene': 'ENTPD4', 'score': 11.11}, {'connected_gene': 'ENSG00000253390', 'score': 11.11}, {'connected_gene': 'NKX3-1', 'score': 10.41}, {'connected_gene': 'LOC105379327', 'score': 0.77}, {'connected_gene': 'LOC646708', 'score': 0.44}]
chr8 GH08I023490 23490588 23490737 0.63 [{'connected_gene': 'SLC25A37', 'score': 11.64}, {'connected_gene': 'ENTPD4', 'score': 11.11}, {'connected_gene': 'ENSG00000253390', 'score': 11.11}, {'connected_gene': 'NKX3-1', 'score': 10.38}, {'connected_gene': 'LOC105379327', 'score': 0.77}, {'connected_gene': 'LOC646708', 'score': 0.44}]
chr8 GH08I023499 23498207 23498396 0.62 [{'connected_gene': 'SLC25A37', 'score': 16.55}, {'connected_gene': 'NKX3-1', 'score': 10.89}, {'connected_gene': 'ENSG00000253390', 'score': 10.44}, {'connected_gene': 'ENTPD4', 'score': 10.43}, {'connected_gene': 'LOXL2', 'score': 4.9}, {'connected_gene': 'LOC105379327', 'score': 0.77}]
chr8 GH08I023502 23498428 23498577 0.82 [{'connected_gene': 'SLC25A37', 'score': 12.3}, {'connected_gene': 'NKX3-1', 'score': 10.89}, {'connected_gene': 'ENSG00000253390', 'score': 10.44}, {'connected_gene': 'ENTPD4', 'score': 10.43}, {'connected_gene': 'LOXL2', 'score': 4.9}, {'connected_gene': 'LOC105379327', 'score': 0.77}]
chr8 GH08I023501 23496902 23497028 0.31 [{'connected_gene': 'SLC25A37', 'score': 12.3}, {'connected_gene': 'NKX3-1', 'score': 10.88}, {'connected_gene': 'ENTPD4', 'score': 10.68}, {'connected_gene': 'ENSG00000253390', 'score': 10.68}, {'connected_gene': 'LOC105379327', 'score': 0.77}]
chr8 GH08I023566 23566067 23569271 0.58 [{'connected_gene': 'SLC25A37', 'score': 19.22}, {'connected_gene': 'NKX3-1', 'score': 10.42}, {'connected_gene': 'GC08M023551', 'score': 0.39}, {'connected_gene': 'RNU4-71P', 'score': 0.29}]
chr8 GH08I023760 23760818 23763735 1.53 [{'connected_gene': 'NKX3-1', 'score': 11.05}, {'connected_gene': 'STC1', 'score': 10.17}, {'connected_gene': 'SLC25A37', 'score': 9.66}, {'connected_gene': 'ENTPD4', 'score': 2.04}, {'connected_gene': 'LOC101929258', 'score': 0.37}, {'connected_gene': 'ENSG00000271118', 'score': 0.26}, {'connected_gene': 'ENSG00000253471', 'score': 0.22}]
chr8 GH08I023754 23754868 23755831 1.33 [{'connected_gene': 'NKX3-1', 'score': 10.47}, {'connected_gene': 'SLC25A37', 'score': 10.1}, {'connected_gene': 'ENTPD4', 'score': 1.68}, {'connected_gene': 'LOC101929258', 'score': 0.39}, {'connected_gene': 'ENSG00000253471', 'score': 0.25}, {'connected_gene': 'ENSG00000271118', 'score': 0.23}]
chr8 GH08I023513 23513077 23513213 0.2 [{'connected_gene': 'NKX3-1', 'score': 10.37}, {'connected_gene': 'SLC25A37', 'score': 0.37}, {'connected_gene': 'LOC105379327', 'score': 0.37}]
chr8 GH08I023516 23516148 23517184 0.94 [{'connected_gene': 'NKX3-1', 'score': 10.37}, {'connected_gene': 'ENSG00000253390', 'score': 5.25}, {'connected_gene': 'SLC25A37', 'score': 0.39}, {'connected_gene': 'LOC105379327', 'score': 0.34}]
chr8 GH08I023514 23514400 23514601 0.87 [{'connected_gene': 'NKX3-1', 'score': 10.37}, {'connected_gene': 'ENSG00000253390', 'score': 5.54}, {'connected_gene': 'SLC25A37', 'score': 0.39}, {'connected_gene': 'LOC105379327', 'score': 0.34}]
chr8 GH08I023750 23750103 23753050 1.02 [{'connected_gene': 'NKX3-1', 'score': 10.49}, {'connected_gene': 'SLC25A37', 'score': 10.1}, {'connected_gene': 'LOC101929258', 'score': 5.39}, {'connected_gene': 'ENSG00000253471', 'score': 0.26}, {'connected_gene': 'ENSG00000271118', 'score': 0.23}]
chr8 GH08I023682 23682000 23683557 1.87 [{'connected_gene': 'NKX3-1', 'score': 560.02}, {'connected_gene': 'NKX2-6', 'score': 8.46}, {'connected_gene': 'GC08M023649', 'score': 0.29}]
chr8 GH08I023759 23759107 23760408 0.51 [{'connected_gene': 'NKX3-1', 'score': 11.05}, {'connected_gene': 'LOC101929258', 'score': 0.37}, {'connected_gene': 'ENSG00000271118', 'score': 0.25}, {'connected_gene': 'ENSG00000253471', 'score': 0.23}]
chr8 GH08I023707 23706248 23706397 0.31 [{'connected_gene': 'NKX2-6', 'score': 550.77}, {'connected_gene': 'ENSG00000253471', 'score': 550.77}, {'connected_gene': 'NKX3-1', 'score': 0.34}]
chr8 GH08I023695 23695812 23695897 0.46 [{'connected_gene': 'NKX2-6', 'score': 0.39}, {'connected_gene': 'NKX3-1', 'score': 0.39}]
chr8 GH08I023708 23706088 23706237 0.43 [{'connected_gene': 'NKX2-6', 'score': 550.77}, {'connected_gene': 'ENSG00000253471', 'score': 550.77}, {'connected_gene': 'NKX3-1', 'score': 0.34}]
chr8 GH08I023706 23706559 23706618 0.61 [{'connected_gene': 'NKX2-6', 'score': 550.77}, {'connected_gene': 'ENSG00000253471', 'score': 550.77}, {'connected_gene': 'NKX3-1', 'score': 0.34}]
chr8 GH08I023496 23494288 23494437 1.21 [{'connected_gene': 'LOC105379327', 'score': 550.77}, {'connected_gene': 'ENSG00000253200', 'score': 34.53}, {'connected_gene': 'ENTPD4', 'score': 30.5}, {'connected_gene': 'C8orf58', 'score': 24.66}, {'connected_gene': 'LOC107986927', 'score': 13.22}, {'connected_gene': 'CCAR2', 'score': 12.62}, {'connected_gene': 'SLC25A37', 'score': 11.66}, {'connected_gene': 'ENSG00000253390', 'score': 11.09}, {'connected_gene': 'LOXL2', 'score': 10.57}, {'connected_gene': 'NKX3-1', 'score': 10.38}, {'connected_gene': 'BIN3', 'score': 10.18}, {'connected_gene': 'CHMP7', 'score': 10.15}]
chr8 GH08I023493 23493530 23494074 0.8 [{'connected_gene': 'LOC105379327', 'score': 550.77}, {'connected_gene': 'ENTPD4', 'score': 21.47}, {'connected_gene': 'ENSG00000253200', 'score': 17.49}, {'connected_gene': 'SLC25A37', 'score': 17.17}, {'connected_gene': 'C8orf58', 'score': 15.76}, {'connected_gene': 'CCAR2', 'score': 12.62}, {'connected_gene': 'ENSG00000253390', 'score': 11.09}, {'connected_gene': 'NKX3-1', 'score': 10.38}, {'connected_gene': 'BIN3', 'score': 10.18}, {'connected_gene': 'CHMP7', 'score': 10.15}, {'connected_gene': 'LOC646708', 'score': 0.39}]
chr8 GH08I023494 23494549 23494795 0.8 [{'connected_gene': 'LOC105379327', 'score': 550.77}, {'connected_gene': 'ENTPD4', 'score': 25.39}, {'connected_gene': 'ENSG00000253200', 'score': 18.99}, {'connected_gene': 'LOC107986927', 'score': 13.22}, {'connected_gene': 'SLC25A37', 'score': 11.66}, {'connected_gene': 'ENSG00000253390', 'score': 11.09}, {'connected_gene': 'C8orf58', 'score': 10.72}, {'connected_gene': 'LOXL2', 'score': 10.57}, {'connected_gene': 'NKX3-1', 'score': 10.54}]
chr8 GH08I023503 23493400 23493524 0.2 [{'connected_gene': 'LOC105379327', 'score': 550.77}, {'connected_gene': 'SLC25A37', 'score': 11.64}, {'connected_gene': 'ENSG00000253390', 'score': 11.11}, {'connected_gene': 'ENTPD4', 'score': 11.09}, {'connected_gene': 'NKX3-1', 'score': 10.38}, {'connected_gene': 'LOC646708', 'score': 0.44}]
chr8 GH08I023483 23483786 23484504 1.19 [{'connected_gene': 'PIR31348', 'score': 550.77}, {'connected_gene': 'LOC646708', 'score': 550.77}, {'connected_gene': 'GC08P023517', 'score': 550.77}, {'connected_gene': 'PIR32720', 'score': 550.77}, {'connected_gene': 'PIR35400', 'score': 550.77}, {'connected_gene': 'PIR58622', 'score': 550.77}, {'connected_gene': 'SLC25A37', 'score': 13.6}, {'connected_gene': 'ENTPD4', 'score': 11.87}, {'connected_gene': 'ENSG00000253390', 'score': 11.87}, {'connected_gene': 'NKX3-1', 'score': 11.53}, {'connected_gene': 'LOC105379327', 'score': 0.39}]
chr8 GH08I022972 22972802 22976082 1.53 [{'connected_gene': 'GC08M022975', 'score': 550.77}, {'connected_gene': 'RHOBTB2', 'score': 5.61}, {'connected_gene': 'TNFRSF10B', 'score': 4.97}, {'connected_gene': 'NKX3-1', 'score': 4.79}, {'connected_gene': 'LOC107986927', 'score': 4.69}, {'connected_gene': 'CHMP7', 'score': 1.54}, {'connected_gene': 'GC08M022970', 'score': 0.77}, {'connected_gene': 'PEBP4', 'score': 0.31}]