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Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Rea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, Maha S Zaki, Stephanie Grainger, Shashank Sathe, Eric L Van Nostrand, Zinayida Schlachetzki, Basak Rosti, Naiara Akizu, Eric Scott, Jennifer L Silhavy, Laura Dean Heckman, Rasim Ozgur Rosti, Esra Dikoglu, Anne Gregor, Alicia Guemez-Gamboa, Damir Musaev, Rohit Mande, Ari Widjaja, Tim L Shaw, Sebastian Markmiller, Isaac Marin-Valencia, Justin H Davies, Linda de Meirleir, Hulya Kayserili, Umut Altunoglu, Mary Louise Freckmann, Linda Warwick, David Chitayat, Susan Blaser, Ahmet Okay Çağlayan, Kaya Bilguvar, Huseyin Per, Christina Fagerberg, Henrik T Christesen, Maria Kibaek, Kimberly A Aldinger, David Manchester, Naomichi Matsumoto, Kazuhiro Muramatsu, Hirotomo Saitsu, Masaaki Shiina, Kazuhiro Ogata, Nicola Foulds, William B Dobyns, Neil C Chi, David Traver, Luigina Spaccini, Stefania Maria Bova, Stacey B Gabriel, Murat Gunel, Enza Maria Valente, Marie-Cecile Nassogne, Eric J Bennett, Gene W Yeo, Frank Baas, Jens Lykke-Andersen, Joseph G Gleeson

Nature genetics · 2017 · Vol. 49 (3) · pp. 457-464

Abstract

Deadenylases are best known for degrading the poly(A) tail during mRNA decay. The deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg<sup>2+</sup>-dependent 3'-end RNases with substrate specificity that is mostly unknown. Pontocerebellar hypoplasia type 7 (PCH7) is a unique recessive syndrome characterized by neurodegeneration and ambiguous genitalia. We studied 12 human families with PCH7, uncovering biallelic, loss-of-function mutations in TOE1, which encodes an unconventional deadenylase. toe1-morphant zebrafish displayed midbrain and hindbrain degeneration, modeling PCH-like structural defects in vivo. Surprisingly, we found that TOE1 associated with small nuclear RNAs (snRNAs) incompletely processed spliceosomal. These pre-snRNAs contained 3' genome-encoded tails often followed by post-transcriptionally added adenosines. Human cells with reduced levels of TOE1 accumulated 3'-end-extended pre-snRNAs, and the immunoisolated TOE1 complex was sufficient for 3'-end maturation of snRNAs. Our findings identify the cause of a neurodegenerative syndrome linked to snRNA maturation and uncover a key factor involved in the processing of snRNA 3' ends.

Linked datasets 1

GSE71536 GSE · via ncbi_elink
GEO ↗

Biallelic mutations in the 3’ exonuclease TOE1 cause Pontocerebellar Hypoplasia Type 7 and result in snRNA processing defects

Homo sapiens

308 data files
FileTypeSize
Sample100_Expt3_input-U6-FLAGonly-siCaf1z.fastq.gz RNA-Seq 911.4 KB
Sample101_Expt3_input-U6-WTaddback-siCaf1z.fastq.gz RNA-Seq 860.2 KB
Sample102_Expt3_input-U6-DEaddback-siCaf1z.fastq.gz RNA-Seq 2.0 MB
Sample103_Expt3_elu-U6-DEaddback.fastq.gz RIP-Seq 880.6 KB
Sample104_Expt4_input-U6-FLAGonly-siLuc.fastq.gz RNA-Seq 1.1 MB
Sample105_Expt4_input-U6-FLAGonly-siCaf1z.fastq.gz RNA-Seq 1003.5 KB
Sample106_Expt4_input-U6-WTaddback-siCaf1z.fastq.gz RNA-Seq 1.1 MB
Sample107_Expt4_input-U6-DEaddback-siCaf1z.fastq.gz RNA-Seq 993.3 KB
Sample108_Expt4_elu-U6-Wtaddback.fastq.gz RIP-Seq 2.2 MB
Sample109_Expt4_elu-U6-DEaddback.fastq.gz RIP-Seq 256.0 KB
Sample10_Expt1_input-U2-DEaddback-siCaf1z.fastq.gz RNA-Seq 819.2 KB
Sample110_Expt4_FU4-01_siLUCtot_rip41.fastq.gz RNA-Seq 1.5 MB
Sample111_Expt4_FU4-02_siCaf1ztot_rip41.fastq.gz RNA-Seq 1.9 MB
Sample112_Expt4_FU4-03_WTtot_rip41.fastq.gz RNA-Seq 1.9 MB
Sample113_Expt4_FU4-04_DEtot_rip41.fastq.gz RNA-Seq 1.6 MB
Sample114_Expt4_FU4-05_WTrip_rip41.fastq.gz RIP-Seq 4.1 MB
Sample115_Expt4_FU4-06_DErip_rip41.fastq.gz RIP-Seq 2.8 MB
Sample116_Expt6_FU1-Vs-09_siL_tot_42.fastq.gz RNA-Seq 1.5 MB
Sample117_Expt6_FU1-Vs-10_siC_tot_42.fastq.gz RNA-Seq 1.8 MB
Sample118_Expt6_FU1-Vs-11_WT_tot_42.fastq.gz RNA-Seq 1.6 MB
Sample119_Expt6_FU1-Vs-12_DE_tot_42.fastq.gz RNA-Seq 1.9 MB
Sample11_Expt1_elu-U2-WTaddback.fastq.gz RIP-Seq 849.9 KB
Sample120_Expt6_FU1-Vs-01_WT_el_42_trizol.fastq.gz RIP-Seq 1.4 MB
Sample121_Expt6_FU1-Vs-02_WT_el_42_Mg.fastq.gz RIP-Seq 1.2 MB
Sample122_Expt6_FU1-Vs-03_WT_el_42_EDTA.fastq.gz RIP-Seq 471.0 KB
Sample123_Expt6_FU1-Vs-04_DE_el_42_trizol.fastq.gz RIP-Seq 1.1 MB
Sample124_Expt6_FU1-Vs-05_DE_el__42_Mg.fastq.gz RIP-Seq 1.2 MB
Sample125_Expt6_FU1-Vs-06_DE_el__42_EDTA.fastq.gz RIP-Seq 1.5 MB
Sample126_Expt7_FU1-Vs-20_siL_tot_40.fastq.gz RNA-Seq 1.3 MB
Sample127_Expt7_FU1-Vs-21_siC_tot_40.fastq.gz RNA-Seq 1.3 MB
Sample128_Expt7_FU1-Vs-22_WT_tot_40.fastq.gz RNA-Seq 1.2 MB
Sample129_Expt7_FU1-Vs-07_DE_tot_40.fastq.gz RNA-Seq 1.2 MB
Sample12_Expt1_elu-U2-Deaddback.fastq.gz RIP-Seq 870.4 KB
Sample130_Expt7_FU1-Vs-13_A103_tot_40.fastq.gz RNA-Seq 1.4 MB
Sample131_Expt7_FU1-Vs-14_F148_tot_40.fastq.gz RNA-Seq 1.3 MB
Sample132_Expt7_FU1-Vs-15_V173_tot_40.fastq.gz RNA-Seq 1.1 MB
Sample133_Expt7_FU1-Vs-16_E220_tot_40.fastq.gz RNA-Seq 962.6 KB
Sample134_Expt9_FU1V68-01_NPC__ATCC.fastq.gz RNA-Seq 757.8 KB
Sample135_Expt9_FU1V68-02_NPC_1603A1.fastq.gz RNA-Seq 931.8 KB
Sample136_Expt9_FU1V68-03_NPC_1603A3.fastq.gz RNA-Seq 768.0 KB
Sample137_Expt9_FU1V68-04_NPC_1603U3.fastq.gz RNA-Seq 890.9 KB
Sample138_Expt9_FU1V68-05_NPC_1603U4.fastq.gz RNA-Seq 716.8 KB
Sample139_Expt9_FU2-01_NPC__ATCC.fastq.gz RNA-Seq 942.1 KB
Sample13_Expt2_input-U1-FLAGonly-siLuc.fastq.gz RNA-Seq 471.0 KB
Sample140_Expt9_FU2-02_NPC_1603A1.fastq.gz RNA-Seq 788.5 KB
Sample141_Expt9_FU2-03_NPC_1603A3.fastq.gz RNA-Seq 768.0 KB
Sample142_Expt9_FU2-04_NPC_1603U3.fastq.gz RNA-Seq 911.4 KB
Sample143_Expt9_FU2-05_NPC_1603U4.fastq.gz RNA-Seq 655.4 KB
Sample144_Expt9_FU5-03_NPC__ATCC.fastq.gz RNA-Seq 1.4 MB
Sample145_Expt9_FU5-04_NPC_1603A1.fastq.gz RNA-Seq 1.2 MB
Sample146_Expt9_FU5-05_NPC_1603A3.fastq.gz RNA-Seq 1.6 MB
Sample147_Expt9_FU5-06_NPC_1603U3.fastq.gz RNA-Seq 1.3 MB
Sample148_Expt9_FU5-07_NPC_1603U4.fastq.gz RNA-Seq 1.4 MB
Sample149_Expt4_FU5-08_siLuc_tot_41.fastq.gz RNA-Seq 1.8 MB
Sample14_Expt2_input-U1-FLAGonly-siCaf1z.fastq.gz RNA-Seq 399.4 KB
Sample150_Expt4_FU5-09_siC_tot_41.fastq.gz RNA-Seq 2.4 MB
Sample151_Expt4_FU5-10_WT_tot_41.fastq.gz RNA-Seq 1.7 MB
Sample152_Expt4_FU5-11_DE_tot_41.fastq.gz RNA-Seq 1.5 MB
Sample153_Expt4_FU5-12_WT_el_41.fastq.gz RIP-Seq 522.2 KB
Sample154_Expt4_FU5-13_DE_el_41.fastq.gz RIP-Seq 573.4 KB
Sample15_Expt2_input-U1-WTaddback-siCaf1z.fastq.gz RNA-Seq 430.1 KB
Sample16_Expt2_input-U1-DEaddback-siCaf1z.fastq.gz RNA-Seq 471.0 KB
Sample17_Expt2_elu-U1-WTaddback.fastq.gz RIP-Seq 286.7 KB
Sample18_Expt2_elu-U1-DEaddback.fastq.gz RIP-Seq 245.8 KB
Sample19_Expt2_input-U2-FLAGonly-siLuc.fastq.gz RNA-Seq 276.5 KB
Sample1_Expt1_input-U1-FLAGonly-siLuc.fastq.gz RNA-Seq 522.2 KB
Sample20_Expt2_input-U2-FLAGonly-siCaf1z.fastq.gz RNA-Seq 235.5 KB
Sample21_Expt2_input-U2-WTaddback-siCaf1z.fastq.gz RNA-Seq 266.2 KB
Sample22_Expt2_input-U2-DEaddback-siCaf1z.fastq.gz RNA-Seq 276.5 KB
Sample23_Expt2_elu-U2-WTaddback.fastq.gz RIP-Seq 266.2 KB
Sample24_Expt2_elu-U2-DEaddback.fastq.gz RIP-Seq 286.7 KB
Sample25_Expt2_input-U4-FLAGonly-siLuc.fastq.gz RNA-Seq 563.2 KB
Sample26_Expt2_input-U4-FLAGonly-siCaf1z.fastq.gz RNA-Seq 532.5 KB
Sample27_Expt2_input-U4-WTaddback-siCaf1z.fastq.gz RNA-Seq 460.8 KB
Sample28_Expt2_input-U4-DEaddback-siCaf1z.fastq.gz RNA-Seq 440.3 KB
Sample29_Expt2_elu-U4-WTaddback.fastq.gz RIP-Seq 553.0 KB
Sample2_Expt1_input-U1-FLAGonly-siCaf1z.fastq.gz RNA-Seq 604.2 KB
Sample30_Expt2_elu-U4-DEaddback.fastq.gz RIP-Seq 532.5 KB
Sample31_Expt2_input-U5-WTaddback-siCaf1z.fastq.gz RNA-Seq 399.4 KB
Sample32_Expt2_input-U5-DEaddback-siCaf1z.fastq.gz RNA-Seq 409.6 KB
Sample33_Expt2_elu-U5-WTaddback.fastq.gz RIP-Seq 419.8 KB
Sample34_Expt2_elu-U5-DEaddback.fastq.gz RIP-Seq 378.9 KB
Sample35_Expt2_input-U6-FLAGonly-siLuc.fastq.gz RNA-Seq 256.0 KB
Sample36_Expt2_input-U6-FLAGonly-siCaf1z.fastq.gz RNA-Seq 256.0 KB
Sample37_Expt2_input-U6-WTaddback-siCaf1z.fastq.gz RNA-Seq 286.7 KB
Sample38_Expt2_input-U6-DEaddback-siCaf1z.fastq.gz RNA-Seq 286.7 KB
Sample39_Expt2_elu-U6-Wtaddback.fastq.gz RIP-Seq 327.7 KB
Sample3_Expt1_input-U1-WTaddback-siCaf1z.fastq.gz RNA-Seq 573.4 KB
Sample40_Expt2_elu-U6-DEaddback.fastq.gz RIP-Seq 348.2 KB
Sample41_Expt3_input-U1-FLAGonly-siLuc.fastq.gz RNA-Seq 2.3 MB
Sample42_Expt3_input-U1-FLAGonly-siCaf1z.fastq.gz RNA-Seq 2.7 MB
Sample43_Expt3_input-U1-WTaddback-siCaf1z.fastq.gz RNA-Seq 3.6 MB
Sample44_Expt3_input-U1-DEaddback-siCaf1z.fastq.gz RNA-Seq 2.5 MB
Sample45_Expt3_elu-U1-WTaddback.fastq.gz RIP-Seq 3.1 MB
Sample46_Expt3_elu-U1-Deaddback.fastq.gz RIP-Seq 3.6 MB
Sample47_Expt3_input-U2-FLAGonly-siLuc.fastq.gz RNA-Seq 3.8 MB
Sample48_Expt3_input-U2-FLAGonly-siCaf1z.fastq.gz RNA-Seq 1.6 MB
Sample49_Expt3_input-U2-WTaddback-siCaf1z.fastq.gz RNA-Seq 2.1 MB
Sample4_Expt1_input-U1-DEaddback-siCaf1z.fastq.gz RNA-Seq 573.4 KB
Sample50_Expt3_input-U2-DEaddback-siCaf1z.fastq.gz RNA-Seq 1.4 MB
Sample51_Expt3_elu-U2-WTaddback.fastq.gz RIP-Seq 2.4 MB
Sample52_Expt3_elu-U2-DEaddback.fastq.gz RIP-Seq 1.7 MB
Sample53_Expt3_input-U4-FLAGonly-siLuc.fastq.gz RNA-Seq 4.4 MB
Sample54_Expt3_input-U4-FLAGonly-siCaf1z.fastq.gz RNA-Seq 3.7 MB
Sample55_Expt3_input-U4-WTaddback-siCaf1z.fastq.gz RNA-Seq 4.6 MB
Sample56_Expt3_input-U4-DEaddback-siCaf1z.fastq.gz RNA-Seq 2.9 MB
Sample57_Expt3_elu-U4-WTaddback.fastq.gz RIP-Seq 3.9 MB
Sample58_Expt3_elu-U4-DEaddback.fastq.gz RIP-Seq 3.8 MB
Sample59_Expt3_input-U5-WTaddback-siCaf1z.fastq.gz RNA-Seq 4.0 MB
Sample5_Expt1_elu-U1-WTaddback.fastq.gz RIP-Seq 542.7 KB
Sample60_Expt3_input-U5-DEaddback-siCaf1z.fastq.gz RNA-Seq 2.7 MB
Sample61_Expt3_elu-U5-WTaddback.fastq.gz RIP-Seq 2.5 MB
Sample62_Expt3_elu-U5-DEaddback.fastq.gz RIP-Seq 2.2 MB
Sample63_Expt8_PATFIB_U1_ATCC.fastq.gz RNA-Seq 8.7 MB
Sample64_Expt8_PATFIB_U1_1603A.fastq.gz RNA-Seq 8.7 MB
Sample65_Expt8_PATFIB_U1_1603U.fastq.gz RNA-Seq 5.3 MB
Sample66_Expt8_PATFIB_U1_4127A.fastq.gz RNA-Seq 8.1 MB
Sample67_Expt8_PATFIB_U1_4128A.fastq.gz RNA-Seq 9.1 MB
Sample68_Expt8_PATFIB_U1_4128U.fastq.gz RNA-Seq 11.8 MB
Sample69_Expt4_input-U5-FLAGonly-siLuc.fastq.gz RIP-Seq 2.0 MB
Sample6_Expt1_elu-U1-DEaddback.fastq.gz RIP-Seq 716.8 KB
Sample70_Expt4_input-U5-FLAGonly-Caf1z.fastq.gz RIP-Seq 1.8 MB
Sample71_Expt5_FU1-Vs-01_V173_rip.fastq.gz RIP-Seq 1.2 MB
Sample72_Expt5_FU1-Vs-02_E220_rip.fastq.gz RIP-Seq 1.2 MB
Sample73_Expt5_FU1-Vs-03_wt_rip.fastq.gz RIP-Seq 819.2 KB
Sample74_Expt5_FU1-Vs-04_de_rip.fastq.gz RIP-Seq 1.8 MB
Sample75_Expt5_FU1-Vs-05_a103_rip.fastq.gz RIP-Seq 1.8 MB
Sample76_Expt5_FU1-Vs-06_f148_rip.fastq.gz RIP-Seq 1.1 MB
Sample77_Expt5_FU1-Vs-12_siL_tot.fastq.gz RNA-Seq 1.3 MB
Sample78_Expt5_FU1-Vs-13_siC_tot.fastq.gz RNA-Seq 1.6 MB
Sample79_Expt5_FU1-Vs-14_wt_tot.fastq.gz RNA-Seq 1.7 MB
Sample7_Expt1_input-U2-FLAGonly-siLuc.fastq.gz RNA-Seq 747.5 KB
Sample80_Expt5_FU1-Vs-15_de_tot.fastq.gz RNA-Seq 2.2 MB
Sample81_Expt5_FU1-Vs-16_a103_tot.fastq.gz RNA-Seq 1.5 MB
Sample82_Expt5_FU1-Vs-17_f148_tot.fastq.gz RNA-Seq 1.7 MB
Sample83_Expt5_FU1-Vs-18_v173_tot.fastq.gz RNA-Seq 1.8 MB
Sample84_Expt5_FU1-Vs-19_e220_tot.fastq.gz RNA-Seq 1.5 MB
Sample85_Expt8_PATFIB_U2_ATCC.fastq.gz RNA-Seq 901.1 KB
Sample86_Expt8_PATFIB_U2_1603A.fastq.gz RNA-Seq 686.1 KB
Sample87_Expt8_PATFIB_U2_1603U.fastq.gz RNA-Seq 778.2 KB
Sample88_Expt8_PATFIB_U2_4127A.fastq.gz RNA-Seq 1.1 MB
Sample89_Expt8_PATFIB_U2_4128A.fastq.gz RNA-Seq 727.0 KB
Sample8_Expt1_input-U2-FLAGonly-siCaf1z.fastq.gz RNA-Seq 716.8 KB
Sample90_Expt8_PATFIB_U2_4128U.fastq.gz RNA-Seq 1013.8 KB
Sample91_Expt8_PATFIB_U5_ATCC.fastq.gz RNA-Seq 1.7 MB
Sample92_Expt8_PATFIB_U5_1603A.fastq.gz RNA-Seq 614.4 KB
Sample93_Expt8_PATFIB_U5_1603U.fastq.gz RNA-Seq 962.6 KB
Sample94_Expt8_PATFIB_U5_4127A.fastq.gz RNA-Seq 921.6 KB
Sample95_Expt8_PATFIB_U5_4128A.fastq.gz RNA-Seq 1.3 MB
Sample96_Expt8_PATFIB_U5_4128U.fastq.gz RNA-Seq 911.4 KB
Sample97_Expt2_FU5-09_siLuc_totalrip35.fastq.gz RNA-Seq 2.8 MB
Sample98_Expt2_FU5-10_siCaf_totalrip35.fastq.gz RNA-Seq 2.7 MB
Sample99_Expt3_input-U6-FLAGonly-siLuc.fastq.gz RNA-Seq 890.9 KB
Sample9_Expt1_input-U2-WTaddback-siCaf1z.fastq.gz RNA-Seq 706.6 KB
SRR2134474_GSM1836489 RNA-Seq
SRR2134475_GSM1836490 RNA-Seq
SRR2134476_GSM1836491 RNA-Seq
SRR2134477_GSM1836492 RNA-Seq
SRR2134478_GSM1836493 RIP-Seq
SRR2134479_GSM1836494 RIP-Seq
SRR2134480_GSM1836495 RNA-Seq
SRR2134481_GSM1836496 RNA-Seq
SRR2134482_GSM1836497 RNA-Seq
SRR2134483_GSM1836498 RNA-Seq
SRR2134484_GSM1836499 RIP-Seq
SRR2134485_GSM1836500 RIP-Seq
SRR2134486_GSM1836501 RNA-Seq
SRR2134487_GSM1836502 RNA-Seq
SRR2134488_GSM1836503 RNA-Seq
SRR2134489_GSM1836504 RNA-Seq
SRR2134490_GSM1836505 RIP-Seq
SRR2134491_GSM1836506 RIP-Seq
SRR2134492_GSM1836507 RNA-Seq
SRR2134493_GSM1836508 RNA-Seq
SRR2134494_GSM1836509 RNA-Seq
SRR2134495_GSM1836510 RNA-Seq
SRR2134496_GSM1836511 RIP-Seq
SRR2134497_GSM1836512 RIP-Seq
SRR2134498_GSM1836513 RNA-Seq
SRR2134499_GSM1836514 RNA-Seq
SRR2134500_GSM1836515 RNA-Seq
SRR2134501_GSM1836516 RNA-Seq
SRR2134502_GSM1836517 RIP-Seq
SRR2134503_GSM1836518 RIP-Seq
SRR2134504_GSM1836519 RNA-Seq
SRR2134505_GSM1836520 RNA-Seq
SRR2134506_GSM1836521 RIP-Seq
SRR2134507_GSM1836522 RIP-Seq
SRR2134508_GSM1836523 RNA-Seq
SRR2134509_GSM1836524 RNA-Seq
SRR2134510_GSM1836525 RNA-Seq
SRR2134511_GSM1836526 RNA-Seq
SRR2134512_GSM1836527 RIP-Seq
SRR2134513_GSM1836528 RIP-Seq
SRR2134514_GSM1836529 RNA-Seq 2.0 MB
SRR2134515_GSM1836530 RNA-Seq 2.0 MB
SRR2134516_GSM1836531 RNA-Seq 3.0 MB
SRR2134517_GSM1836532 RNA-Seq 2.0 MB
SRR2134518_GSM1836533 RIP-Seq 3.0 MB
SRR2134519_GSM1836534 RIP-Seq 3.0 MB
SRR2134520_GSM1836535 RNA-Seq 3.0 MB
SRR2134521_GSM1836536 RNA-Seq 1.0 MB
SRR2134522_GSM1836537 RNA-Seq 2.0 MB
SRR2134523_GSM1836538 RNA-Seq 1.0 MB
SRR2134524_GSM1836539 RIP-Seq 2.0 MB
SRR2134525_GSM1836540 RIP-Seq 1.0 MB
SRR2134526_GSM1836541 RNA-Seq 4.0 MB
SRR2134527_GSM1836542 RNA-Seq 3.0 MB
SRR2134528_GSM1836543 RNA-Seq 4.0 MB
SRR2134529_GSM1836544 RNA-Seq 2.0 MB
SRR2134530_GSM1836545 RIP-Seq 3.0 MB
SRR2134531_GSM1836546 RIP-Seq 3.0 MB
SRR2134532_GSM1836547 RNA-Seq 3.0 MB
SRR2134533_GSM1836548 RNA-Seq 2.0 MB
SRR2134534_GSM1836549 RIP-Seq 2.0 MB
SRR2134535_GSM1836550 RIP-Seq 2.0 MB
SRR2134536_GSM1836551 RNA-Seq 8.0 MB
SRR2134537_GSM1836552 RNA-Seq 8.0 MB
SRR2134538_GSM1836553 RNA-Seq 5.0 MB
SRR2134539_GSM1836554 RNA-Seq 8.0 MB
SRR2134540_GSM1836555 RNA-Seq 9.0 MB
SRR2134541_GSM1836556 RNA-Seq 11.0 MB
SRR2134542_GSM1836557 RIP-Seq 2.0 MB
SRR2134543_GSM1836558 RIP-Seq 1.0 MB
SRR2134544_GSM1836559 RIP-Seq 1.0 MB
SRR2134545_GSM1836560 RIP-Seq 1.0 MB
SRR2134546_GSM1836561 RIP-Seq
SRR2134547_GSM1836562 RIP-Seq 1.0 MB
SRR2134548_GSM1836563 RIP-Seq 1.0 MB
SRR2134549_GSM1836564 RIP-Seq 1.0 MB
SRR2134550_GSM1836565 RNA-Seq 1.0 MB
SRR2134551_GSM1836566 RNA-Seq 1.0 MB
SRR2134552_GSM1836567 RNA-Seq 1.0 MB
SRR2134553_GSM1836568 RNA-Seq 2.0 MB
SRR2134554_GSM1836569 RNA-Seq 1.0 MB
SRR2134555_GSM1836570 RNA-Seq 1.0 MB
SRR2134556_GSM1836571 RNA-Seq 1.0 MB
SRR2134557_GSM1836572 RNA-Seq 1.0 MB
SRR2134558_GSM1836573 RNA-Seq
SRR2134559_GSM1836574 RNA-Seq
SRR2134560_GSM1836575 RNA-Seq
SRR2134561_GSM1836576 RNA-Seq 1.0 MB
SRR2134562_GSM1836577 RNA-Seq
SRR2134563_GSM1836578 RNA-Seq
SRR2134564_GSM1836579 RNA-Seq 1.0 MB
SRR2134565_GSM1836580 RNA-Seq
SRR2134566_GSM1836581 RNA-Seq
SRR2134567_GSM1836582 RNA-Seq
SRR2134568_GSM1836583 RNA-Seq 1.0 MB
SRR2134569_GSM1836584 RNA-Seq
SRR2134570_GSM1836585 RNA-Seq 2.0 MB
SRR2134571_GSM1836586 RNA-Seq 2.0 MB
SRR2134572_GSM1836587 RNA-Seq
SRR2134573_GSM1836588 RNA-Seq
SRR2134574_GSM1836589 RNA-Seq
SRR2134575_GSM1836590 RNA-Seq 2.0 MB
SRR2134576_GSM1836591 RIP-Seq
SRR2134577_GSM1836592 RNA-Seq 1.0 MB
SRR2134578_GSM1836593 RNA-Seq
SRR2134579_GSM1836594 RNA-Seq 1.0 MB
SRR2134580_GSM1836595 RNA-Seq
SRR2134581_GSM1836596 RIP-Seq 2.0 MB
SRR2134582_GSM1836597 RIP-Seq
SRR2134583_GSM1836598 RNA-Seq 1.0 MB
SRR2134584_GSM1836599 RNA-Seq 1.0 MB
SRR2134585_GSM1836600 RNA-Seq 1.0 MB
SRR2134586_GSM1836601 RNA-Seq 1.0 MB
SRR2134587_GSM1836602 RIP-Seq 4.0 MB
SRR2134588_GSM1836603 RIP-Seq 2.0 MB
SRR2134589_GSM1836604 RNA-Seq 1.0 MB
SRR2134590_GSM1836605 RNA-Seq 1.0 MB
SRR2134591_GSM1836606 RNA-Seq 1.0 MB
SRR2134592_GSM1836607 RNA-Seq 1.0 MB
SRR2134593_GSM1836608 RIP-Seq 1.0 MB
SRR2134594_GSM1836609 RIP-Seq 1.0 MB
SRR2134595_GSM1836610 RIP-Seq
SRR2134596_GSM1836611 RIP-Seq 1.0 MB
SRR2134597_GSM1836612 RIP-Seq 1.0 MB
SRR2134598_GSM1836613 RIP-Seq 1.0 MB
SRR2134599_GSM1836614 RNA-Seq 1.0 MB
SRR2134600_GSM1836615 RNA-Seq 1.0 MB
SRR2134601_GSM1836616 RNA-Seq 1.0 MB
SRR2134602_GSM1836617 RNA-Seq 1.0 MB
SRR2134603_GSM1836618 RNA-Seq 1.0 MB
SRR2134604_GSM1836619 RNA-Seq 1.0 MB
SRR2134605_GSM1836620 RNA-Seq 1.0 MB
SRR2134606_GSM1836621 RNA-Seq
SRR2134607_GSM1836622 RNA-Seq
SRR2134608_GSM1836623 RNA-Seq
SRR2134609_GSM1836624 RNA-Seq
SRR2134610_GSM1836625 RNA-Seq
SRR2134611_GSM1836626 RNA-Seq
SRR2134612_GSM1836627 RNA-Seq
SRR2134613_GSM1836628 RNA-Seq
SRR2134614_GSM1836629 RNA-Seq
SRR2134615_GSM1836630 RNA-Seq
SRR2134616_GSM1836631 RNA-Seq
SRR2134617_GSM1836632 RNA-Seq 1.0 MB
SRR2134618_GSM1836633 RNA-Seq 1.0 MB
SRR2134619_GSM1836634 RNA-Seq 1.0 MB
SRR2134620_GSM1836635 RNA-Seq 1.0 MB
SRR2134621_GSM1836636 RNA-Seq 1.0 MB
SRR2134622_GSM1836637 RNA-Seq 1.0 MB
SRR2134623_GSM1836638 RNA-Seq 2.0 MB
SRR2134624_GSM1836639 RNA-Seq 1.0 MB
SRR2134625_GSM1836640 RNA-Seq 1.0 MB
SRR2134626_GSM1836641 RIP-Seq
SRR2134627_GSM1836642 RIP-Seq

Potentially related datasets 1

These accessions were text-mined from the PMC full text. They may be referenced for comparison, cited from other studies, or otherwise mentioned without being primary data for this paper.

Accession Source Title
GSE71536 GSE · GEO GEO ↗ Biallelic mutations in the 3’ exonuclease TOE1 cause Pontocerebellar Hypoplasia Type 7 and result in snRNA processing defects

Analysis pipelines 1

Pipeline Assay Steps Dataset
GSE71536 Data Processing geo_data_processing — 4 GSE71536
Funding 22 grants
Grant Funder
R01 HG004659 NHGRI NIH HHS (United States)
R35 GM118069 NIGMS NIH HHS (United States)
P30 NS047101 NINDS NIH HHS (United States)
T32 GM007240 NIGMS NIH HHS (United States)
K12 GM068524 NIGMS NIH HHS (United States)
R01 NS075449 NINDS NIH HHS (United States)
UM1 HG008900 NHGRI NIH HHS (United States)
260888 European Research Council (International)
R01 GM077243 NIGMS NIH HHS (United States)
F32 GM106706 NIGMS NIH HHS (United States)
R01 NS048453 NINDS NIH HHS (United States)
U54 HG006504 NHGRI NIH HHS (United States)
R00 HD082337 NICHD NIH HHS (United States)
R01 NS098004 NINDS NIH HHS (United States)
UM1 HG006493 NHGRI NIH HHS (United States)
R01 NS058721 NINDS NIH HHS (United States)
U54 HG003067 NHGRI NIH HHS (United States)
R01 NS050375 NINDS NIH HHS (United States)
R01 NS041537 NINDS NIH HHS (United States)
K99 HD082337 NICHD NIH HHS (United States)
R01 NS052455 NINDS NIH HHS (United States)
P01 HD070494 NICHD NIH HHS (United States)