Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Dystonia 37, Early-Onset, with Striatal Lesions | | ISO | NUP54 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Dystonia 37, Early-Onset, with Striatal Lesions | | ISO | NUP54 (Homo sapiens) | 7240710 | | OMIM | | |
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NUP54 (Sus scrofa - pig) |
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NUP54 (Homo sapiens - human) |
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Nup54 (Mus musculus - house mouse) |
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Nup54 (Rattus norvegicus - Norway rat) |
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Nup54 (Chinchilla lanigera - long-tailed chinchilla) |
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NUP54 (Pan paniscus - bonobo/pygmy chimpanzee) |
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NUP54 (Canis lupus familiaris - dog) |
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Nup54 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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NUP54 (Chlorocebus sabaeus - green monkey) |
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Nup54 (Heterocephalus glaber - naked mole-rat) |
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Variants in NUP54
1293 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | hemolymphoid system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | |
High | |||||||||
Medium | |||||||||
Low | 10 | 4 | 3 | 5 | 2 | 23 | 2 | 3 | 3 |
Below cutoff |
RefSeq Transcripts | XM_003129118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_021101458 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AEMK02000067 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK348090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FP016186 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GBZA01000447 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GFLN01033516 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSSSCT00000009834 ⟹ ENSSSCP00000009581 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000054744 ⟹ ENSSSCP00000035001 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000074163 ⟹ ENSSSCP00000073902 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000074372 ⟹ ENSSSCP00000068955 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000098157 ⟹ ENSSSCP00000075912 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_003129118 ⟹ XP_003129166 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021101458 ⟹ XP_020957117 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | XP_003129166 | (Get FASTA) | NCBI Sequence Viewer |
XP_020957117 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSSSCP00000009581 | ||
ENSSSCP00000009581.3 | |||
ENSSSCP00000035001 | |||
ENSSSCP00000035001.1 | |||
ENSSSCP00000068955.1 | |||
ENSSSCP00000073902.1 | |||
ENSSSCP00000075912.1 | |||
ENSSSCP00005039382.1 | |||
ENSSSCP00005039398.1 | |||
ENSSSCP00005039415.1 | |||
ENSSSCP00015022485.1 | |||
ENSSSCP00015022506.1 | |||
ENSSSCP00015022647.1 | |||
ENSSSCP00015022716.1 | |||
ENSSSCP00025011334.1 | |||
ENSSSCP00025011345.1 | |||
ENSSSCP00025011349.1 | |||
ENSSSCP00030005346.1 | |||
ENSSSCP00030005353.1 | |||
ENSSSCP00030005369.1 | |||
ENSSSCP00030005377.1 | |||
ENSSSCP00035045210.1 | |||
ENSSSCP00035045234.1 | |||
ENSSSCP00035045256.1 | |||
ENSSSCP00040042946.1 | |||
ENSSSCP00040043019.1 | |||
ENSSSCP00040043092.1 | |||
ENSSSCP00045015104.1 | |||
ENSSSCP00045015124.1 | |||
ENSSSCP00045015131.1 | |||
ENSSSCP00045015149.1 | |||
ENSSSCP00045015185.1 | |||
ENSSSCP00050040472.1 | |||
ENSSSCP00050040475.1 | |||
ENSSSCP00050040478.1 | |||
ENSSSCP00050040479.1 | |||
ENSSSCP00055012279.1 | |||
ENSSSCP00055012319.1 | |||
ENSSSCP00055012368.1 | |||
ENSSSCP00055012426.1 | |||
ENSSSCP00055012467.1 | |||
ENSSSCP00060007604.1 | |||
ENSSSCP00060007611.1 | |||
ENSSSCP00060007619.1 | |||
ENSSSCP00060007626.1 | |||
ENSSSCP00060007632.1 | |||
ENSSSCP00065047531.1 | |||
ENSSSCP00065047535.1 | |||
ENSSSCP00065047553.1 | |||
ENSSSCP00065047558.1 | |||
ENSSSCP00070007392.1 | |||
ENSSSCP00070007397.1 | |||
GenBank Protein | JAG69321 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | XP_003129166 ⟸ XM_003129118 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A286ZTU0 (UniProtKB/TrEMBL), A0A0B8RVN3 (UniProtKB/TrEMBL), A0A8D1TXZ0 (UniProtKB/TrEMBL), A0A5G2QVQ7 (UniProtKB/TrEMBL), A0A8D0VG85 (UniProtKB/TrEMBL), A0A8D0RD61 (UniProtKB/TrEMBL), A0A8D0VFC3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020957117 ⟸ XM_021101458 |
- Peptide Label: | isoform X1 |
- UniProtKB: | F1RYT5 (UniProtKB/TrEMBL), A0A8D1SWG1 (UniProtKB/TrEMBL), A0A4X1SWU8 (UniProtKB/TrEMBL), A0A8D0VFE0 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSSSCP00000035001 ⟸ ENSSSCT00000054744 |
RefSeq Acc Id: | ENSSSCP00000073902 ⟸ ENSSSCT00000074163 |
RefSeq Acc Id: | ENSSSCP00000068955 ⟸ ENSSSCT00000074372 |
RefSeq Acc Id: | ENSSSCP00000009581 ⟸ ENSSSCT00000009834 |
RefSeq Acc Id: | ENSSSCP00000075912 ⟸ ENSSSCT00000098157 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSSSCG00000008979 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSSSCG00005039457 | UniProtKB/TrEMBL | |
ENSSSCG00015041966 | UniProtKB/TrEMBL | |
ENSSSCG00025019691 | UniProtKB/TrEMBL | |
ENSSSCG00030008740 | UniProtKB/TrEMBL | |
ENSSSCG00035077301 | UniProtKB/TrEMBL | |
ENSSSCG00040070429 | UniProtKB/TrEMBL | |
ENSSSCG00045012882 | UniProtKB/TrEMBL | |
ENSSSCG00050068739 | UniProtKB/TrEMBL | |
ENSSSCG00055007982 | UniProtKB/TrEMBL | |
ENSSSCG00060014287 | UniProtKB/TrEMBL | |
ENSSSCG00065077248 | UniProtKB/TrEMBL | |
ENSSSCG00070004762 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSSSCT00000009834 | ENTREZGENE |
ENSSSCT00000009834.5 | UniProtKB/TrEMBL | |
ENSSSCT00000054744 | ENTREZGENE | |
ENSSSCT00000054744.2 | UniProtKB/TrEMBL | |
ENSSSCT00000074163.2 | UniProtKB/TrEMBL | |
ENSSSCT00000074372.2 | UniProtKB/TrEMBL | |
ENSSSCT00000098157.1 | UniProtKB/TrEMBL | |
ENSSSCT00005063736.1 | UniProtKB/TrEMBL | |
ENSSSCT00005063763.1 | UniProtKB/TrEMBL | |
ENSSSCT00005063797.1 | UniProtKB/TrEMBL | |
ENSSSCT00015055999.1 | UniProtKB/TrEMBL | |
ENSSSCT00015056057.1 | UniProtKB/TrEMBL | |
ENSSSCT00015056518.1 | UniProtKB/TrEMBL | |
ENSSSCT00015056698.1 | UniProtKB/TrEMBL | |
ENSSSCT00025026750.1 | UniProtKB/TrEMBL | |
ENSSSCT00025026780.1 | UniProtKB/TrEMBL | |
ENSSSCT00025026795.1 | UniProtKB/TrEMBL | |
ENSSSCT00030011910.1 | UniProtKB/TrEMBL | |
ENSSSCT00030011920.1 | UniProtKB/TrEMBL | |
ENSSSCT00030011947.1 | UniProtKB/TrEMBL | |
ENSSSCT00030011961.1 | UniProtKB/TrEMBL | |
ENSSSCT00035105319.1 | UniProtKB/TrEMBL | |
ENSSSCT00035105355.1 | UniProtKB/TrEMBL | |
ENSSSCT00035105400.1 | UniProtKB/TrEMBL | |
ENSSSCT00040096636.1 | UniProtKB/TrEMBL | |
ENSSSCT00040096741.1 | UniProtKB/TrEMBL | |
ENSSSCT00040096851.1 | UniProtKB/TrEMBL | |
ENSSSCT00045021939.1 | UniProtKB/TrEMBL | |
ENSSSCT00045021965.1 | UniProtKB/TrEMBL | |
ENSSSCT00045021978.1 | UniProtKB/TrEMBL | |
ENSSSCT00045021998.1 | UniProtKB/TrEMBL | |
ENSSSCT00045022038.1 | UniProtKB/TrEMBL | |
ENSSSCT00050093813.1 | UniProtKB/TrEMBL | |
ENSSSCT00050093818.1 | UniProtKB/TrEMBL | |
ENSSSCT00050093825.1 | UniProtKB/TrEMBL | |
ENSSSCT00050093829.1 | UniProtKB/TrEMBL | |
ENSSSCT00055015617.1 | UniProtKB/TrEMBL | |
ENSSSCT00055015669.1 | UniProtKB/TrEMBL | |
ENSSSCT00055015730.1 | UniProtKB/TrEMBL | |
ENSSSCT00055015800.1 | UniProtKB/TrEMBL | |
ENSSSCT00055015854.1 | UniProtKB/TrEMBL | |
ENSSSCT00060018880.1 | UniProtKB/TrEMBL | |
ENSSSCT00060018888.1 | UniProtKB/TrEMBL | |
ENSSSCT00060018897.1 | UniProtKB/TrEMBL | |
ENSSSCT00060018905.1 | UniProtKB/TrEMBL | |
ENSSSCT00060018917.1 | UniProtKB/TrEMBL | |
ENSSSCT00065106800.1 | UniProtKB/TrEMBL | |
ENSSSCT00065106805.1 | UniProtKB/TrEMBL | |
ENSSSCT00065106836.1 | UniProtKB/TrEMBL | |
ENSSSCT00065106844.1 | UniProtKB/TrEMBL | |
ENSSSCT00070009007.1 | UniProtKB/TrEMBL | |
ENSSSCT00070009013.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.20.5.170 | UniProtKB/TrEMBL |
Single helix bin | UniProtKB/TrEMBL | |
InterPro | Nup54/Nup57/Nup44 | UniProtKB/TrEMBL |
Nup54_alpha-helical_dom | UniProtKB/TrEMBL | |
Nup54_C | UniProtKB/TrEMBL | |
KEGG Report | ssc:100512118 | UniProtKB/TrEMBL |
NCBI Gene | NUP54 | ENTREZGENE |
PANTHER | NUCLEOPORIN P54 | UniProtKB/TrEMBL |
PTHR13000 | UniProtKB/TrEMBL | |
Pfam | Nup54 | UniProtKB/TrEMBL |
Nup54_C | UniProtKB/TrEMBL | |
UniProt | A0A0B8RVN3 | ENTREZGENE |
A0A286ZTU0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1SWU8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1SWV3_PIG | UniProtKB/TrEMBL | |
A0A5G2QVQ7 | ENTREZGENE | |
A0A5G2RG41_PIG | UniProtKB/TrEMBL | |
A0A8D0RD61 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0VFC3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0VFE0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0VG85 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1H8W5_PIG | UniProtKB/TrEMBL | |
A0A8D1SWG1 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1SYD7_PIG | UniProtKB/TrEMBL | |
A0A8D1TXZ0 | ENTREZGENE | |
A0A8W4FC89_PIG | UniProtKB/TrEMBL | |
F1RYT5 | ENTREZGENE | |
UniProt Secondary | A0A5G2QVQ7 | UniProtKB/TrEMBL |
A0A8D1TXZ0 | UniProtKB/TrEMBL | |
F1RYT5 | UniProtKB/TrEMBL | |
VGNC ID | VGNC:98950 | ENTREZGENE |