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Gene ID | Symbol | Synonyms | Official Full Name | Location | SZ group? | Functional group? |
---|---|---|---|---|---|---|
8086 | AAAS | AAA | AAASb | ADRACALA | ADRACALIN | ALADIN | GL003 | aladin WD repeat nucleoporin | 12q13 | CV:PGCnp DMG:Nishioka_2013 |
|
79023 | NUP37 | p37 | nucleoporin 37kDa | 12q23.2 | CV:PGCnp DNM:Fromer_2014 |
CompositeSet |
53981 | CPSF2 | CPSF100 | 乳沟和polyadenylation specific factor 2 | 14q31.1 | CV:PGCnp CV:PheWAS DMG:Wockner_2014 |
|
10921 | RNPS1 | E5.1 | RNA binding protein S1, serine-rich domain | 16p13.3 | CV:PGCnp DMG:Nishioka_2013 |
|
9785 | DHX38 | DDX38 | PRP16 | PRPF16 | DEAH-box helicase 38 | 16q22 | CV:PGCnp | Ascano FMRP targets |
4927 | NUP88 | - | nucleoporin 88kDa | 17p13.2 | CV:PGCnp | |
6426 | SRSF1 | ASF | SF2 | SF2p33 | SFRS1 | SRp30a | serine/arginine-rich splicing factor 1 | 17q22 | CV:PGCnp DMG:Jaffe_2016 PMID:cooccur |
|
79902 | NUP85 | FROUNT | Nup75 | nucleoporin 85kDa | 17q25.1 | CV:PGCnp DMG:Jaffe_2016 |
|
81929 | SEH1L | SEC13L | SEH1A | SEH1B | Seh1 | SEH1 like nucleoporin | 18p11.21 | CV:PGCnp DMG:Wockner_2014 |
|
11338 | U2AF2 | U2AF65 | U2 small nuclear RNA auxiliary factor 2 | 19q13.42 | CV:PGCnp DMG:Jaffe_2016 Network |
|
4116 | MAGOH | MAGOH1 | MAGOHA | mago homolog, exon junction complex core component | 1p32.3 | CV:GWASdb CV:PGCnp PMID:cooccur |
|
6429 | SRSF4 | SFRS4 | SRP75 | serine/arginine-rich splicing factor 4 | 1p35.3 | CV:PGCnp | |
10250 | SRRM1 | 160-KD | POP101 | SRM160 | serine and arginine repetitive matrix 1 | 1p36.11 | CV:PGCnp DMG:Jaffe_2016 |
|
9939 | RBM8A | BOV-1A | BOV-1B | BOV-1C | C1DELq21.1 | DEL1q21.1 | MDS014 | RBM8 | RBM8B | TAR | Y14 | ZNRP | ZRNP1 | RNA binding motif protein 8A | 1q21.1 | CNV:YES GSMA_I GSMA_IIA PMID:cooccur |
|
7175 | TPR | - | translocated promoter region, nuclear basket protein | 1q25 | CV:PGCnp DMG:Jaffe_2016 DNM:Fromer_2014 PMID:cooccur |
CompositeSet Ascano FMRP targets |
6431 | SRSF6 | B52 | HEL-S-91 | SFRS6 | SRP55 | serine/arginine-rich splicing factor 6 | 20q12-q13.1 | CV:PGCnp Expression |
|
8480 | RAE1 | MIG14 | MRNP41 | Mnrp41 | dJ481F12.3 | dJ800J21.1 | ribonucleic acid export 1 | 20q13.31 | DMG:Nishioka_2013 | |
10762 | NUP50 | NPAP60 | NPAP60L | nucleoporin 50kDa | 22q13.31 | CV:PGCnp | |
6432 | SRSF7 | 9G8 | AAG3 | SFRS7 | serine/arginine-rich splicing factor 7 | 2p22.1 | CV:PGCnp | |
5903 | RANBP2 | ADANE | ANE1 | IIAE3 | NUP358 | TRP1 | TRP2 | RAN binding protein 2 | 2q12.3 | CV:PGCnp DMG:Nishioka_2013 GSMA_I GSMA_IIA Network |
Ascano FMRP targets |
23225 | NUP210 | GP210 | POM210 | nucleoporin 210kDa | 3p25.1 | CV:GWASdb CV:PGCnp DMG:Wockner_2014 DNM:Fromer_2014 GSMA_I |
CompositeSet |
22916 | NCBP2 | CBC2 | CBP20 | NIP1 | PIG55 | nuclear cap binding protein subunit 2 | 3q29 | CNV:YES CV:PGCnp DMG:Jaffe_2016 DMG:Nishioka_2013 |
|
7884 | SLBP | HBP | stem-loop binding protein | 4p16.3 | CV:PGCnp DMG:Wockner_2014 |
|
53371 | NUP54 | - | nucleoporin 54kDa | 4q21.1 | DNM:Xu_2012 | CompositeSet |
1977 | EIF4E | AUTS19 | CBP | EIF4E1 | EIF4EL1 | EIF4F | eIF-4E | eukaryotic translation initiation factor 4E | 4q23 | CV:PGCnp DMG:Wockner_2014 Network PMID:cooccur |
|
9972 | NUP153 | HNUP153 | N153 | nucleoporin 153kDa | 6p22.3 | CV:PGCnp DMG:Wockner_2014 GSMA_I |
|
348995 | NUP43 | bA350J20.1 | p42 | nucleoporin 43kDa | 6q25.1 | CV:PGCnp | |
11097 | NUPL2 | CG1 | NLP-1 | NLP_1 | hCG1 | nucleoporin like 2 | 7p15 | CV:PGCnp DMG:Jaffe_2016 DMG:Wockner_2014 DNM:Fromer_2014 PMID:cooccur |
CompositeSet |
9883 | POM121 | P145 | POM121A | POM121 transmembrane nucleoporin | 7q11.23 | CNV:YES CV:PGCnp DMG:Jaffe_2016 |
|
23165 | NUP205 | C7orf14 | nucleoporin 205kDa | 7q33 | CV:PGCnp PMID:cooccur |
|
29894 | CPSF1 | CPSF160 | HSU37012 | P / cl.18 | 乳沟和polyadenylation specific factor 1 | 8q24.23 | CV:PGCnp | Ascano FMRP targets |
4799 | NFX1 | NFX2 | TEG-42 | Tex42 | nuclear transcription factor, X-box binding 1 | 9p13.3 | CV:PGCnp | |
8021 | NUP214 | CAIN | CAN | nucleoporin 214kDa | 9q34.1 | CV:PGCnp DMG:Nishioka_2013 DNM:Gulsuner_2013 |
|
65109 | UPF3B | HUPF3B | MRX62 | MRXS14 | RENT3B | UPF3BP1 | UPF3BP2 | UPF3BP3 | UPF3X | Upf3p-X | UPF3 regulator of nonsense transcripts homolog B (yeast) | Xq24 | CV:PGCnp PMID:cooccur |
|