SPLICEOSOME PATHWAY (PW:0001073)

View Ontology Report

Description

The production of mature mRNA involves the processing of 5'- and 3'-ends, and the removal of introns via specialized pathways. In higher eukaryotes, ~95% of protein-coding genes contain introns that are generally long (human introns can be several to hundreds of kilobases), and separate shorter exons. Their removal via splicing involves the formation of the spliceosome - one of the most complex macromolecular machines of the cell. It proceeds via a dynamic step-wise assembly of discrete complexe

Pathway Diagram:

Elsevier Inc. hnRNP proteins ---- ISS ESS ---- hnRNP proteins microRNA pathway U6b* spliceosome disassembly excised lariat ISS ISE RNA polymerase II transcription pathway ---> intron intron RNA polymerase II transcription pathway exon1 PPIases, other regulators DHX15 ---> spliceosome disassembly DHX15 ESS ESE U6c U5c U5b* U6 U5 U2b spliced mRNA ESE ---- SR proteins spliced mRNA ---> mRNA nuclear export pathway EJC complex ---> mRNA nuclear export pathway mRNA nuclear export pathway EJC complex post-spliceosomal complex U2b* hnRNP proteins Prp19-associated proteins Prp19 complex U2 U1 U2c chromatin modification/remodeling pathway exon2 complex C complex B* first step reaction Dhx38 ---> second step reaction Dhx8 ---> second step reaction Dhx16 ---> first step reaction Dhx16 RNA polymerase II transcription pathway <--> chromatin modification/remodeling pathway Snrnp200 ---> complex B* Eftud2 ---> complex B* Eftud2 U2b* ---> complex B* Snrnp200 Ddx23 Ddx46 ---- U2 Ddx46 Ddx46 ---> complex A Ddx39b ---> complex A complex A complex E U2af1 ---> complex E Sf1 ---> complex E U2af2 U2af1 ---- U2af2 Sf1 ---- U2af2 U1 ---> complex E Sf1 U2af2 ---> complex E U2 ---> complex A U5b* ---> complex B* U5c ---> complex C U6c ---> complex C U2c ---> complex C complex B* ---> first step reaction complex C ---> second step reaction Ddx23 ---> complex B Ddx39b U1a U1b Prp19 complex ---> complex C Prp19-associated proteins ---> complex C Dhx38 Dhx8 Prpf18 ---> second step reaction Slu7 ---> second step reaction Prp19 complex ---> complex B* Prp19-associated proteins ---> complex B* U6b* ---> complex B* complex B Prpf18 Slu7 second step reaction ISE ---- SR proteins SR proteins U1a ---> complex A U1b ---> complex B U2b ---> complex B U4 ---> complex B U6 ---> complex B U5 ---> complex B U2af1 U4 PPIases, other regulators ---> spliced mRNA
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Genes in Pathway:

show annotations for term's descendants       view all columns
spliceosome pathway term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aar2 AAR2 splicing factor homolog JBrowse link 3 152,626,738 152,648,365 RGD:9686090
G Acin1 apoptotic chromatin condensation inducer 1 JBrowse link 15 33,288,369 33,333,256 RGD:6907045
G Alyref Aly/REF export factor JBrowse link 10 109,768,593 109,774,639 RGD:6907045
G Aqr aquarius intron-binding spliceosomal factor JBrowse link 3 105,570,399 105,640,431 RGD:6907045
RGD:9686094
G Bcas2 BCAS2, pre-mRNA processing factor JBrowse link 2 205,662,633 205,670,514 RGD:6907045
RGD:9686094
G Bud31 BUD31 homolog JBrowse link 12 11,232,963 11,240,449 RGD:6907045
RGD:9686094
G Ccdc12 coiled-coil domain containing 12 JBrowse link 8 118,925,682 118,977,038 RGD:6907045
RGD:9686094
G Cdc40 cell division cycle 40 JBrowse link 20 48,503,973 48,574,546 RGD:6907045
G Cdc5l cell division cycle 5-like JBrowse link 9 17,949,764 17,988,514 RGD:6907045
RGD:9686094
G Cherp calcium homeostasis endoplasmic reticulum protein JBrowse link 16 19,068,783 19,081,837 RGD:6907045
G Crnkl1 crooked neck pre-mRNA splicing factor 1 JBrowse link 6 18,349,226 18,351,540 RGD:6907045
RGD:9686094
G Ctnnbl1 catenin, beta like 1 JBrowse link 3 154,212,245 154,373,170 RGD:6907045
RGD:9686094
G Cwc15 CWC15 spliceosome-associated protein JBrowse link 8 12,994,131 13,004,958 RGD:6907045
RGD:9686094
G Ddx23 DEAD-box helicase 23 JBrowse link 7 140,325,453 140,342,730 RGD:6907045
RGD:9686089
RGD:9686093
G Ddx39b DExD-box helicase 39B JBrowse link 20 4,806,103 4,818,600 RGD:9686093
G Ddx42 DEAD-box helicase 42 JBrowse link 10 94,407,094 94,439,052 RGD:6907045
RGD:9686091
G Ddx46 DEAD-box helicase 46 JBrowse link 17 9,475,275 9,519,545 RGD:6907045
RGD:9686093
G Ddx5 DEAD-box helicase 5 JBrowse link 10 94,979,759 94,988,461 RGD:6907045
G Dhx15 DEAH-box helicase 15 JBrowse link 14 61,136,740 61,174,880 RGD:6907045
G Dhx16 DEAH-box helicase 16 JBrowse link 20 3,368,971 3,386,087 RGD:6907045
RGD:9686093
G Dhx38 DEAH-box helicase 38 JBrowse link 19 42,110,291 42,127,540 RGD:6907045
RGD:9686093
G Dhx8 DEAH-box helicase 8 JBrowse link 10 89,645,979 89,683,839 RGD:6907045
RGD:9686093
G Eftud2 elongation factor Tu GTP binding domain containing 2 JBrowse link 10 90,932,071 90,983,971 RGD:6907045
RGD:9686090
RGD:9686093
G Eif4a3 eukaryotic translation initiation factor 4A3 JBrowse link 10 108,415,201 108,425,195 RGD:6907045
RGD:9686404
G Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 RGD:9686091
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 7 144,865,302 144,871,592 RGD:6907045
RGD:9686089
RGD:9686091
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 JBrowse link 4 81,237,496 81,241,281 RGD:9686091
G Hnrnpa3 heterogeneous nuclear ribonucleoprotein A3 JBrowse link 3 62,481,222 62,491,356 RGD:6907045
G Hnrnpab heterogeneous nuclear ribonucleoprotein A/B JBrowse link 10 34,955,713 34,961,662 RGD:9686091
G Hnrnpc heterogeneous nuclear ribonucleoprotein C JBrowse link 15 28,486,605 28,517,353 RGD:6907045
RGD:9686089
RGD:9686091
G Hnrnpd heterogeneous nuclear ribonucleoprotein D JBrowse link 14 11,256,163 11,274,684 RGD:9686091
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 JBrowse link 10 35,872,619 35,879,911 RGD:9686091
G Hnrnpk heterogeneous nuclear ribonucleoprotein K JBrowse link 17 6,664,730 6,676,753 RGD:6907045
RGD:9686089
RGD:9686091
G Hnrnpl heterogeneous nuclear ribonucleoprotein L JBrowse link 1 86,994,090 87,006,776 RGD:9686091
G Hnrnpm heterogeneous nuclear ribonucleoprotein M JBrowse link 7 18,516,253 18,554,536 RGD:9686089
RGD:9686091
G Hnrnpr heterogeneous nuclear ribonucleoprotein R JBrowse link 5 154,668,194 154,699,967 RGD:9686091
G Hnrnpu heterogeneous nuclear ribonucleoprotein U JBrowse link 13 96,222,093 96,238,845 RGD:6907045
RGD:9686089
RGD:9686091
G Hspa1a heat shock protein family A (Hsp70) member 1A JBrowse link 20 4,875,834 4,881,751 RGD:6907045
G Hspa1b heat shock protein family A (Hsp70) member 1B JBrowse link 20 4,877,638 4,880,112 RGD:6907045
G Hspa1l heat shock protein family A (Hsp70) member 1 like JBrowse link 20 4,879,998 4,965,191 RGD:6907045
G Hspa2 heat shock protein family A member 2 JBrowse link 6 99,433,575 99,436,288 RGD:6907045
G Hspa8 heat shock protein family A (Hsp70) member 8 JBrowse link 8 44,989,401 44,993,261 RGD:6907045
RGD:9686094
G Isy1 ISY1 splicing factor homolog JBrowse link 4 119,721,659 119,742,349 RGD:9686094
G Lsm2 LSM2 homolog, U6 small nuclear RNA and mRNA degradation associated JBrowse link 20 4,966,817 4,970,567 RGD:6907045
RGD:9686089
RGD:9686091
G Lsm3 LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated JBrowse link 4 123,162,086 123,168,330 RGD:6907045
RGD:9686089
RGD:9686091
G Lsm4 LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated JBrowse link 16 20,506,399 20,511,818 RGD:6907045
RGD:9686089
RGD:9686091
G Lsm5 LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated JBrowse link 4 87,016,003 87,019,219 RGD:6907045
G Lsm6 LSM6 homolog, U6 small nuclear RNA and mRNA degradation associated JBrowse link 19 32,770,640 32,785,215 RGD:6907045
RGD:9686089
RGD:9686091
G Lsm7 LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated JBrowse link 7 11,724,932 11,732,020 RGD:6907045
RGD:9686089
RGD:9686091
G Lsm8 LSM8 homolog, U6 small nuclear RNA associated JBrowse link 4 45,555,077 45,560,943 RGD:9686089
RGD:9686091
G Magoh mago homolog, exon junction complex core component JBrowse link 5 127,480,465 127,487,617 RGD:6907045
G Magohb mago homolog B, exon junction complex core component JBrowse link 4 165,514,584 165,522,366 RGD:6907045
RGD:9686404
G Mbnl1 muscleblind-like splicing regulator 1 JBrowse link 2 150,698,248 150,867,791 RGD:9686382
G Ncbp1 nuclear cap binding protein subunit 1 JBrowse link 5 61,734,118 61,767,098 RGD:6907045
G Pcbp1 poly(rC) binding protein 1 JBrowse link 4 118,327,185 118,329,223 RGD:6907045
G Phf5a PHD finger protein 5A JBrowse link 7 123,095,286 123,101,851 RGD:6907045
G Pigz phosphatidylinositol glycan anchor biosynthesis, class Z JBrowse link 11 72,930,040 72,936,002 RGD:6907045
G Plrg1 pleiotropic regulator 1 JBrowse link 2 182,040,338 182,056,669 RGD:6907045
RGD:9686094
G Pnn pinin, desmosome associated protein JBrowse link 6 80,159,364 80,167,677 RGD:9686404
G Ppie peptidylprolyl isomerase E JBrowse link 5 140,822,141 140,835,244 RGD:6907045
RGD:9686094
RGD:9686376
G Ppig peptidylprolyl isomerase G JBrowse link 3 55,959,756 55,990,040 RGD:9686376
G Ppih peptidylprolyl isomerase H JBrowse link 5 138,343,934 138,361,743 RGD:6907045
RGD:9686376
G Ppil1 peptidylprolyl isomerase like 1 JBrowse link 20 6,515,638 6,864,571 RGD:6907045
RGD:9686094
RGD:9686376
G Ppil2 peptidylprolyl isomerase like 2 JBrowse link 11 88,147,342 88,169,968 RGD:9686376
G Ppil3 peptidylprolyl isomerase like 3 JBrowse link 9 65,315,407 65,329,145 RGD:9686376
G Pqbp1 polyglutamine binding protein 1 JBrowse link X 15,448,570 15,453,130 RGD:6907045
G Prpf18 pre-mRNA processing factor 18 JBrowse link 17 77,601,914 77,632,507 RGD:6907045
RGD:9686092
G Prpf19 pre-mRNA processing factor 19 JBrowse link 1 226,947,065 226,958,147 RGD:6907045
RGD:9686094
G Prpf3 pre-mRNA processing factor 3 JBrowse link 2 197,947,010 197,971,464 RGD:6907045
RGD:9686089
G Prpf31 pre-mRNA processing factor 31 JBrowse link 1 64,150,786 64,162,461 RGD:6907045
RGD:9686089
G Prpf38a pre-mRNA processing factor 38A JBrowse link 5 128,174,835 128,186,532 RGD:6907045
G Prpf38b pre-mRNA processing factor 38B JBrowse link 2 211,706,245 211,715,271 RGD:6907045
G Prpf4 pre-mRNA processing factor 4 JBrowse link 5 78,267,248 78,281,172 RGD:6907045
RGD:9686089
G Prpf40a pre-mRNA processing factor 40 homolog A JBrowse link 3 38,680,583 38,741,570 RGD:6907045
G Prpf6 pre-mRNA processing factor 6 JBrowse link 3 177,098,137 177,162,937 RGD:6907045
RGD:9686089
G Prpf8 pre-mRNA processing factor 8 JBrowse link 10 63,635,239 63,658,360 RGD:6907045
RGD:9686090
G Ptbp1 polypyrimidine tract binding protein 1 JBrowse link 7 12,663,965 12,673,723 RGD:9686381
G Ptbp2 polypyrimidine tract binding protein 2 JBrowse link 2 223,261,444 223,323,075 RGD:9686382
G Puf60 poly-U binding splicing factor 60 JBrowse link 7 117,129,237 117,140,234 RGD:6907045
G Qki QKI, KH domain containing, RNA binding JBrowse link 1 50,983,133 51,061,103 RGD:9686381
G Rbm17 RNA binding motif protein 17 JBrowse link 17 70,586,345 70,603,289 RGD:6907045
G Rbm22 RNA binding motif protein 22 JBrowse link 18 55,828,158 55,839,421 RGD:6907045
RGD:9686094
G Rbm25 RNA binding motif protein 25 JBrowse link 6 107,117,888 107,165,538 RGD:6907045
G Rbm25l1 RNA binding motif protein 25-like 1 JBrowse link 10 10,457,316 10,460,540 RGD:6907045
G Rbm8a RNA binding motif protein 8A JBrowse link 2 198,755,261 198,758,028 RGD:6907045
RGD:9686404
G Rbmx RNA binding motif protein, X-linked JBrowse link X 159,881,835 159,891,405 RGD:6907045
RGD:9686089
RGD:9686091
G Rbmxl1 RNA binding motif protein, X-linked-like 1 JBrowse link 19 33,081,473 33,084,988 RGD:6907045
G RGD1566078 similar to NHP2-like protein 1 (High mobility group-like nuclear protein 2 homolog 1) (Sperm specific antigen 1) JBrowse link X 152,781,177 152,781,621 RGD:6907045
G Rnps1 RNA binding protein with serine rich domain 1 JBrowse link 10 13,786,339 13,796,720 RGD:9686404
G Sart1 SART1, U4/U6.U5 tri-snRNP-associated protein 1 JBrowse link 1 220,762,496 220,771,158 RGD:6907045
G Sart3 squamous cell carcinoma antigen recognized by T-cells 3 JBrowse link 12 48,628,198 48,656,096 RGD:9686090
G Sf1 splicing factor 1 JBrowse link 1 221,735,512 221,749,216 RGD:9686089
G Sf3a1 splicing factor 3a, subunit 1 JBrowse link 14 84,393,182 84,413,931 RGD:6907045
RGD:9686091
G Sf3a2 splicing factor 3a, subunit 2 JBrowse link 7 11,777,826 11,784,373 RGD:6907045
RGD:9686091
G Sf3a3 splicing factor 3a, subunit 3 JBrowse link 5 142,702,721 142,722,350 RGD:6907045
RGD:9686091
G Sf3b1 splicing factor 3b, subunit 1 JBrowse link 9 61,594,620 61,634,510 RGD:6907045
RGD:9686091
G Sf3b2 splicing factor 3b, subunit 2 JBrowse link 1 220,645,685 220,665,611 RGD:6907045
RGD:9686091
G Sf3b3 splicing factor 3b, subunit 3 JBrowse link 19 43,392,071 43,429,582 RGD:6907045
RGD:9686091
G Sf3b4 splicing factor 3b, subunit 4 JBrowse link 2 198,312,428 198,317,180 RGD:6907045
RGD:9686091
G Sf3b5 splicing factor 3b, subunit 5 JBrowse link 1 7,101,715 7,102,427 RGD:6907045
RGD:9686091
G Sf3b6 splicing factor 3B, subunit 6 JBrowse link 6 29,991,232 29,999,668 RGD:9686091
G Slu7 SLU7 homolog, splicing factor JBrowse link 10 29,029,556 29,044,919 RGD:6907045
RGD:9686092
G Smndc1 survival motor neuron domain containing 1 JBrowse link 1 274,096,068 274,107,138 RGD:6907045
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 JBrowse link 3 119,640,324 119,669,651 RGD:9686090
RGD:9686093
G Snrnp27 small nuclear ribonucleoprotein U4/U6.U5 subunit 27 JBrowse link 4 118,478,075 118,487,633 RGD:6907045
G Snrnp40 small nuclear ribonucleoprotein U5 subunit 40 JBrowse link 5 148,577,498 148,610,658 RGD:6907045
G Snrnp70 small nuclear ribonucleoprotein U1 subunit 70 JBrowse link 1 101,367,470 101,388,153 RGD:6907045
RGD:9686090
G Snrpa small nuclear ribonucleoprotein polypeptide A JBrowse link 1 83,999,670 84,008,429 RGD:6907045
RGD:9686090
G Snrpa1 small nuclear ribonucleoprotein polypeptide A' JBrowse link 1 126,961,389 126,974,453 RGD:9686091
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 JBrowse link 3 122,696,125 122,703,734 RGD:6907045
RGD:9686089
RGD:9686091
G Snrpb2 small nuclear ribonucleoprotein polypeptide B2 JBrowse link 3 137,138,082 137,147,575 RGD:6907045
RGD:9686091
G Snrpc small nuclear ribonucleoprotein polypeptide C JBrowse link 20 7,409,401 7,427,581 RGD:6907045
RGD:9686090
G Snrpd1 small nuclear ribonucleoprotein D1 polypeptide JBrowse link 18 1,866,066 1,876,613 RGD:6907045
RGD:9686089
RGD:9686091
G Snrpd2 small nuclear ribonucleoprotein D2 polypeptide JBrowse link 1 80,057,140 80,059,990 RGD:6907045
RGD:9686089
RGD:9686091
G Snrpd3 small nuclear ribonucleoprotein D3 polypeptide JBrowse link 20 14,080,562 14,095,644 RGD:9686089
RGD:9686091
G Snrpe small nuclear ribonucleoprotein polypeptide E JBrowse link 13 50,252,707 50,258,951 RGD:6907045
RGD:9686089
RGD:9686091
G Snrpf small nuclear ribonucleoprotein polypeptide F JBrowse link 7 34,478,331 34,485,034 RGD:6907045
RGD:9686089
RGD:9686091
G Snrpg small nuclear ribonucleoprotein polypeptide G JBrowse link 4 118,167,267 118,174,846 RGD:9686089
RGD:9686091
G Snu13 small nuclear ribonucleoprotein 13 JBrowse link 7 123,282,754 123,287,721 RGD:6907045
RGD:9686089
G Snw1 SNW domain containing 1 JBrowse link 6 111,483,698 111,507,782 RGD:6907045
RGD:9686094
G Srrm1 serine and arginine repetitive matrix 1 JBrowse link 5 153,675,619 153,708,187 RGD:9686091
RGD:9686404
G Srrm2 serine/arginine repetitive matrix 2 JBrowse link 10 13,128,820 13,162,956 RGD:9686091
G Srsf1 serine and arginine rich splicing factor 1 JBrowse link 10 75,334,200 75,341,197 RGD:9686089
RGD:9686091
G Srsf10 serine and arginine rich splicing factor 10 JBrowse link 5 154,205,358 154,219,550 RGD:9686089
RGD:9686091
G Srsf11 serine and arginine rich splicing factor 11 JBrowse link 2 264,837,463 264,864,296 RGD:9686091
G Srsf12 serine and arginine rich splicing factor 12 JBrowse link 5 48,456,777 48,484,017 RGD:9686091
G Srsf2 serine and arginine rich splicing factor 2 JBrowse link 10 105,792,779 105,795,986 RGD:9686091
G Srsf4 serine and arginine rich splicing factor 4 JBrowse link 5 150,032,999 150,060,769 RGD:9686089
RGD:9686091
G Srsf5 serine and arginine rich splicing factor 5 JBrowse link 6 104,611,026 104,640,033 RGD:9686089
RGD:9686091
G Srsf6 serine and arginine rich splicing factor 6 JBrowse link 3 159,305,345 159,310,668 RGD:9686089
RGD:9686091
G Srsf7 serine and arginine rich splicing factor 7 JBrowse link 6 2,879,312 2,886,505 RGD:9686089
RGD:9686091
G Srsf9 serine and arginine rich splicing factor 9 JBrowse link 12 47,039,714 47,046,022 RGD:9686089
RGD:9686091
G Syf2 SYF2 pre-mRNA-splicing factor JBrowse link 5 153,269,638 153,277,562 RGD:6907045
RGD:9686094
G Syncrip synaptotagmin binding, cytoplasmic RNA interacting protein JBrowse link 8 96,100,692 96,266,342 RGD:9686091
G Tcerg1 transcription elongation regulator 1 JBrowse link 18 36,796,290 36,889,966 RGD:6907045
G Thoc1 THO complex 1 JBrowse link 18 1,142,540 1,177,084 RGD:6907045
G Thoc2 THO complex 2 JBrowse link X 128,153,824 128,268,327 RGD:6907045
G Thoc3 THO complex 3 JBrowse link 17 10,676,943 10,686,134 RGD:6907045
G Tial1 Tia1 cytotoxic granule-associated RNA binding protein-like 1 JBrowse link 1 199,844,854 199,865,843 RGD:9686381
G Tra2a transformer 2 alpha homolog JBrowse link 4 78,905,380 78,924,203 RGD:6907045
G Tra2b transformer 2 beta homolog JBrowse link 11 82,373,828 82,392,208 RGD:6907045
G U2af1 U2 small nuclear RNA auxiliary factor 1 JBrowse link 20 10,396,652 10,407,564 RGD:9686089
G U2af2 U2 small nuclear RNA auxiliary factor 2 JBrowse link 1 72,312,260 72,329,828 RGD:6907045
RGD:9686089
G U2surp U2 snRNP-associated SURP domain containing JBrowse link 8 103,242,095 103,299,082 RGD:6907045
G Usp39 ubiquitin specific peptidase 39 JBrowse link 4 100,181,408 100,211,425 RGD:6907045
G Wbp11 WW domain binding protein 11 JBrowse link 4 170,772,166 170,785,613 RGD:6907045
G Xab2 XPA binding protein 2 JBrowse link 12 2,158,391 2,170,397 RGD:6907045
RGD:9686094
G Zmat2 zinc finger, matrin type 2 JBrowse link 18 29,639,991 29,644,626 RGD:6907045

Pathway Gene Annotations

Disease Annotations Associated with Genes in the spliceosome pathway
Disease TermsGene Symbols
46, XY Disorders of Sex DevelopmentSf1
Abnormalities, MultiplePcbp1 , Sf3b4
Absent Radii and ThrombocytopeniaRbm8a
Acrofacial Dysostosis, Nager TypeSf3b4
Acute Coronary SyndromeHspa1a , Hspa8
Acute Kidney InjuryHspa1a , Hspa8
Acute Lung InjuryHnrnpc
AdenocarcinomaHspa8
Adenocarcinoma of EsophagusCdc5l
Adenocarcinoma of LungSnrpb , Snrpe , U2af1
Alzheimer DiseaseHnrnpa1 , Hnrnpa2b1 , Hspa1a , Hspa1b , Snrnp70 , Snrpa
Amyotrophic Lateral SclerosisHnrnpk
Amyotrophic Lateral Sclerosis 20Hnrnpa1
Anterior Segment Dysgenesis 5Prpf8
Arsenic PoisoningHspa1b , Tra2a
Arthritis, RheumatoidHnrnpa2b1
AtherosclerosisHnrnpc , Hspa1a , Hspa1b
Au-Kline SyndromeHnrnpk
Autism Spectrum DisorderSrsf11
Azoospermia, NonobstructiveSrsf6
Brain InjuriesHspa1a , Snw1
Brain IschemiaHspa1b , Hspa8
Brain NeoplasmsHnrnpl
Breast NeoplasmsBcas2 , Hnrnpk , Hnrnpl , Hnrnpr , Hspa1b , Sf3b1 , Sf3b2 , Snw1 , Srsf5
CachexiaDdx42
CakutCdc5l , Hspa1b
CarcinomaHnrnpa1 , Ptbp1 , Snrpd3 , Srsf2
Carcinoma, Adenoid CysticSf3b1
Carcinoma, Basal CellCrnkl1
Carcinoma, HepatocellularHnrnpa1 , Hnrnpa2b1 , Hnrnpab , Hnrnpd , Hnrnph1 , Hnrnpl , Sf3b1 , Sf3b2 , Snrpe , Snw1 , Srsf1
Carcinoma, Non-Small-Cell LungHnrnpa1 , Hnrnpa2b1 , Srsf1
Carcinoma, Pancreatic DuctalHspa1a , Hspa1b
Carcinoma, Renal CellSf3b1 , Sf3b2
Carcinoma, Squamous CellHspa8
Carcinoma, Squamous Cell of Head and NeckU2af1
Carcinoma, Transitional CellSf3b1 , U2af1
Cardiovascular DiseasesHspa1a
Cerebrocostomandibular SyndromeSnrpb
Cervical Intraepithelial NeoplasiaSrsf1
CHROMOSOME Xq26.3 DUPLICATION SYNDROMERbmx
Chronic Lymphoid LeukemiaSf3b1 , Sf3b2
Colonic NeoplasmsHspa2 , Srsf1 , Srsf4 , Srsf5 , Srsf6
Colorectal NeoplasmsCtnnbl1 , Hnrnpa1 , Hnrnph1 , Hnrnpk , Hnrnpm , Hnrnpu , Hspa8 , Snrpf
Connective Tissue DiseasesSnrpa , Snrpa1 , Snrpb2 , Snrpc , Snrpd1
Coronary DiseaseHspa1a
Coronary OcclusionHspa1a
Cutaneous Squamous Cell CarcinomaDdx5
Cystic FibrosisHspa1a
Dementia, VascularHspa1a
Depressive Disorder, MajorHspa1a , Hspa1l
Diabetes Mellitus, ExperimentalHnrnpa2b1 , Hnrnpk
Diabetes Mellitus, Type 1Ddx39b
Diabetes Mellitus, Type 2Hspa1b
Diabetes, GestationalSrrm1
Diabetic FootHspa1b
Diabetic NephropathiesHspa1a , Hspa1b , Hspa8
Disease ProgressionHnrnpl , Prpf19 , Snrpb
Down SyndromeSrsf4
Drug HypersensitivityHspa1a , Hspa1l
Drug Hypersensitivity SyndromeHspa1l
Drug-Induced Liver InjuryHspa8
EncephalitisSyf2
Encephalomyelitis, Autoimmune, ExperimentalSrsf9
Endometrial NeoplasmsSrsf10
EndometriosisDdx5
Epidermal HyperplasiaSrsf6
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54Hnrnpu
Esophageal AtresiaEftud2
Experimental Autoimmune OrchitisHnrnph1
Fragile X SyndromePqbp1
Genetic Diseases, InbornPcbp1 , Sf3b4
Glomerular HyperfiltrationSrsf7
Graft vs Host DiseaseHspa1a , Hspa1b , Hspa8
Gray Platelet SyndromeCcdc12
Growth DisordersPqbp1
Head and Neck NeoplasmsSrsf2
Hearing Loss, Noise-InducedHspa1a , Hspa1b , Hspa1l
Hearing Loss, SuddenHspa1a , Hspa1b , Hspa1l
Heart Failure, SystolicHspa1a
Heart Septal Defects, AtrialPqbp1
Heart Septal Defects, VentricularAar2 , Rbm25
Heat Stress DisordersHspa1a
HIV InfectionsAlyref , Prpf8 , Sf3a3 , Snrpd3 , Srsf1 , Srsf9 , U2af1
Huntington DiseaseHspa8 , Srsf6
HyperlipidemiasHspa1b
HypertensionHspa8
Hypertension, RenalHspa8
HypogonadismSnrpe
Hypotrichosis 11Snrpe
Hypotrichosis SimplexSnrpe
Hypoxia-Ischemia, BrainHspa1a
Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal DementiaHnrnpa2b1
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2Hnrnpa2b1
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 3Hnrnpa1
Inflammatory Bowel DiseasesHspa8
Intellectual DisabilityEif4a3 , Pqbp1
IschemiaSf1
Ischemic Attack, TransientHnrnpa2b1 , Hnrnpab , Hspa8 , Tial1
Kidney NeoplasmsSrsf1 , Srsf2 , Srsf4 , Srsf5 , Srsf6 , Srsf7
Kidney Reperfusion InjuryHspa8
Language Development DisordersPqbp1
LeiomyomaHnrnpm
LeukemiaSyncrip
Leukemia, Lymphocytic, Chronic, B-CellSf3b1 , Sf3b2
Leukemia, Myelogenous, Chronic, BCR-ABL PositiveSrsf1
Leukemia, MyeloidSrsf1
Leukemia, Myeloid, AcuteDhx15 , Sf3b1 , Sf3b2 , Srsf2 , Srsf4 , U2af1
Leukemia-Lymphoma, Adult T-CellHnrnpa2b1
Liver Cirrhosis, ExperimentalTial1 , U2surp
Liver DiseasesHspa1a , Srsf5
Liver Failure, AcuteHspa8
Liver NeoplasmsSf3b1 , Sf3b2
Long QT SyndromeHnrnpm
Lung NeoplasmsCdc5l , Hnrnpl , Srsf1 , Srsf2 , Srsf6
Lupus Erythematosus, SystemicHspa1a , Hspa1l , Snrnp70 , Snrpc , Snrpd1 , Snrpd2 , Snrpd3
Lupus NephritisSnrpe
Macular DegenerationHspa8 , Srsf10 , Tra2b
Mammary Neoplasms, AnimalHnrnpa1 , Ptbp1 , Snrpd3 , Srsf2
Mammary Neoplasms, ExperimentalHnrnpa1 , Hnrnpab , Ptbp1 , Snrpd3 , Srsf2
Mandibulofacial DysostosisEftud2
Mandibulofacial Dysostosis, Guion-Almeida TypeEftud2
MedulloblastomaSf3b2
MelanomaCrnkl1 , Hspa1a , Sf1 , Sf3b1 , Sf3b2
Meniere DiseaseHspa1a
Mental DisordersSnrnp70
Mental Retardation, X-LinkedPqbp1
MENTAL RETARDATION, X-LINKED 12Thoc2
MesotheliomaPuf60
Mesothelioma, MalignantSf3b1
Metabolic DiseasesHspa8
MicrocephalyPqbp1
Mixed Connective Tissue DiseaseSnrpb , Snrpc
Mixed Tumor, MullerianU2af1
Mouth NeoplasmsHspa8
Mucocutaneous Lymph Node SyndromeHspa1a , Hspa1l
Multiple SclerosisHspa8
Multiple Sclerosis, Chronic ProgressiveHnrnpa1
Multiple Sclerosis, Relapsing-RemittingHnrnpa1 , Hspa8
Muscular Dystrophy, FacioscapulohumeralHspa1b
Myelodysplastic SyndromesDdx42 , Sf3b1 , Sf3b2 , Srsf11 , Srsf2 , U2af1
Myocardial IschemiaHspa1a , Hspa2
MyositisSrsf1
MyotoniaMbnl1
Nasopharyngeal CarcinomaSnrpd1 , Snrpe , Snrpf , Snrpg
NecrosisPuf60
Neoplasm MetastasisHspa1a , Srsf1 , Srsf5 , Srsf6
NeoplasmsSnrpb2
Neoplasms, ExperimentalPuf60
NephritisSnrpd1
NeuroblastomaSnrpe
Neurotoxicity SyndromesSrsf5
ObesityHspa1b
Obesity, MorbidCtnnbl1
Optic Nerve InjuriesSnw1
Orofaciodigital Syndrome, Shashi TypeRbmx
Osteoarthritis, ExperimentalHspa1a
OsteoporosisU2af1
OsteosarcomaCdc5l
Ovarian CystsMagohb
Ovarian NeoplasmsSrsf1 , Srsf10
Pancreatic AdenocarcinomaSf3b2 , U2af1
Pancreatic CarcinomaHnrnpa2b1
Pancreatic NeoplasmsEif4a3 , Snw1
Paraneoplastic Syndromes, OcularHspa8
Paraparesis, Tropical SpasticHnrnpa1
Parkinson DiseaseHspa1a , Hspa8 , Srrm2
Parkinsonian DisordersHspa1a
Pituitary NeoplasmsHnrnpk , Srsf1
Pleomorphic Xanthoastrocytoma Bud31 , Hnrnpa2b1 , Lsm5 , Lsm8 , Tra2a
Polycystic Ovary SyndromeLsm5 , Srsf10
Porokeratosis, Disseminated Superficial Actinic 1Sart3
Precursor Cell Lymphoblastic Leukemia-LymphomaSnrpe
Premature Ovarian Failure 7Sf1
Proliferative Diabetic RetinopathySrsf6
Prostatic NeoplasmsHnrnph1 , Hnrnpk , Hspa1a , Sf3b3 , Snrpe
ProteinuriaSnrpd1
Renpenning Syndrome 1Pqbp1
Reperfusion InjuryHspa1a , Hspa1b , Hspa8
Retinal DystrophiesPrpf31 , Prpf8 , Snrnp200
Retinitis PigmentosaPrpf3 , Prpf31 , Prpf6 , Prpf8 , Snrnp200
Retinitis Pigmentosa 11Prpf31
Retinitis Pigmentosa 13Prpf8
Retinitis Pigmentosa 18Prpf3
Retinitis Pigmentosa 33Snrnp200
Retinitis Pigmentosa 60Prpf6
Retinitis Pigmentosa 70Prpf4
Richieri Costa Pereira SyndromeEif4a3
SchistosomiasisBud31
SchizophreniaHnrnpa3 , Hspa1a , Hspa1b , Hspa1l , Mbnl1 , Pigz , Snrnp200 , Snrpa1 , Snrpd3 , Srsf1
Schizophrenia, ParanoidHspa1a
Sciatic NeuropathySnw1
Scleroderma, SystemicHnrnpl
SeizuresEftud2 , Hspa1a
Senile CataractHspa1b
Sertoli Cell-Only SyndromeHnrnpl
Shock, HemorrhagicHspa1a
Shock, SepticHspa1b
SilicosisHnrnpa3
Sjogren's SyndromeHnrnph1
Skin DiseasesHspa1b , Tra2a
Skin NeoplasmsSrsf6
Smith-Magenis SyndromeAlyref , Ddx42 , Ddx5 , Dhx8 , Eftud2 , Eif4a3 , Srsf1 , Srsf2
Soft Tissue NeoplasmsSnrpd3
Spastic Paraplegia, HereditaryPqbp1
Spermatogenic Failure 8Sf1
Spinal Cord InjuriesRbmx
Spinocerebellar Ataxia 17Hspa8
Spinocerebellar AtaxiasRbm17
Status EpilepticusHspa1a
Stomach NeoplasmsHnrnpa0 , Hnrnpl , Hspa8 , Prpf19 , Snrpb , Srsf1
Substance-Related DisordersPrpf4
Supranuclear Palsy, ProgressiveSrsf2 , Tra2b
UremiaHnrnpd
Urinary Bladder NeoplasmsHspa1a , Srsf9
Urinary Tract InfectionsHspa1b
Uterine Cervical NeoplasmsHnrnpc , Hspa8 , U2af1
Uterine NeoplasmsU2af1
Uveal MelanomaSf3b1
UveitisHspa1l
Verheij SyndromePuf60
VitiligoHspa1a
Weight GainSlu7
Pathway Annotations Associated with Genes in the spliceosome pathway
Pathway TermsGene Symbols
5'-end pre-mRNA capping pathwayNcbp1
androgen signaling pathwayHspa8
antigen processing and presentation pathwayHspa1a , Hspa1b , Hspa1l , Hspa2 , Hspa8
chaperone mediated autophagy pathwayHspa8
clathrin-dependent synaptic vesicle endocytosisHspa8
endocytosis pathwayHspa1a , Hspa1b , Hspa1l , Hspa2 , Hspa8
Endoplasmic Reticulum-associated degradation pathwayHspa1a , Hspa1b , Hspa1l , Hspa2 , Hspa8
estrogen signaling pathwayDdx5
influenza A virus infection pathwayHspa1a , Hspa1b , Hspa1l , Hspa2 , Hspa8
iron homeostasis pathwayPcbp1
iron storage pathwayPcbp1
measles infection pathwayHspa1a , Hspa1b , Hspa1l , Hspa2 , Hspa8
mitogen activated protein kinase signaling pathwayHspa1a , Hspa1b , Hspa1l , Hspa2 , Hspa8
mRNA decay pathwayAcin1 , Alyref , Eif4a3 , Magoh , Magohb , Ncbp1 , Pigz , Pnn , Rbm8a , Rnps1 , Srrm1
Notch signaling pathwaySnw1
nucleotide excision repair pathwayXab2
NXF1-NXT1 export pathwayAlyref , Ddx39b , Thoc1 , Thoc2
prion diseases pathwayHspa1a
retinitis pigmentosa pathwayPrpf31 , Prpf8
ribosome biogenesis pathwayDhx15 , RGD1566078 , Snu13
RNA degradation pathwayLsm2 , Lsm3 , Lsm4 , Lsm5 , Lsm6 , Lsm7
RNA polymerase II transcription elongation pathwayNcbp1
RNA transport pathwayAcin1 , Alyref , Eif4a3 , Magoh , Magohb , Ncbp1 , Pigz , Pnn , Rbm8a , Rnps1 , Srrm1 , Thoc1 , Thoc2 , Thoc3
spliceosome pathwayAar2 , Acin1 , Alyref , Aqr , Bcas2 , Bud31 , Ccdc12 , Cdc40 , Cdc5l , Cherp , Crnkl1 , Ctnnbl1 , Cwc15 , Ddx23 , Ddx39b , Ddx42 , Ddx46 , Ddx5 , Dhx15 , Dhx16 , Dhx38 , Dhx8 , Eftud2 , Eif4a3 , Hnrnpa0 , Hnrnpa1 , Hnrnpa2b1 , Hnrnpa3 , Hnrnpab , Hnrnpc , Hnrnpd , Hnrnph1 , Hnrnpk , Hnrnpl , Hnrnpm , Hnrnpr , Hnrnpu , Hspa1a , Hspa1b , Hspa1l , Hspa2 , Hspa8 , Isy1 , Lsm2 , Lsm3 , Lsm4 , Lsm5 , Lsm6 , Lsm7 , Lsm8 , Magoh , Magohb , Mbnl1 , Ncbp1 , Pcbp1 , Phf5a , Pigz , Plrg1 , Pnn , Ppie , Ppig , Ppih , Ppil1 , Ppil2 , Ppil3 , Pqbp1 , Prpf18 , Prpf19 , Prpf3 , Prpf31 , Prpf38a , Prpf38b , Prpf4 , Prpf40a , Prpf6 , Prpf8 , Ptbp1 , Ptbp2 , Puf60 , Qki , Rbm17 , Rbm22 , Rbm25 , Rbm25l1 , Rbm8a , Rbmx , Rbmxl1 , RGD1566078 , Rnps1 , Sart1 , Sart3 , Sf1 , Sf3a1 , Sf3a2 , Sf3a3 , Sf3b1 , Sf3b2 , Sf3b3 , Sf3b4 , Sf3b5 , Sf3b6 , Slu7 , Smndc1 , Snrnp200 , Snrnp27 , Snrnp40 , Snrnp70 , Snrpa , Snrpa1 , Snrpb , Snrpb2 , Snrpc , Snrpd1 , Snrpd2 , Snrpd3 , Snrpe , Snrpf , Snrpg , Snu13 , Snw1 , Srrm1 , Srrm2 , Srsf1 , Srsf10 , Srsf11 , Srsf12 , Srsf2 , Srsf4 , Srsf5 , Srsf6 , Srsf7 , Srsf9 , Syf2 , Syncrip , Tcerg1 , Thoc1 , Thoc2 , Thoc3 , Tial1 , Tra2a , Tra2b , U2af1 , U2af2 , U2surp , Usp39 , Wbp11 , Xab2 , Zmat2
systemic lupus erythematosus pathwaySnrpb , Snrpd1
Toxoplasma gondii infection pathwayHspa1a , Hspa1b , Hspa1l , Hspa2 , Hspa8
ubiquitin/proteasome degradation pathwayPpil2 , Prpf19

References Associated with the spliceosome pathway:

Ontology Path Diagram:

paths to the root

Import into Pathway Studio: