Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GNE myopathy | | ISO | GNE (Homo sapiens) | 7240710 | | OMIM | | sialuria | | ISO | GNE (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | GNE myopathy | | ISO | GNE (Homo sapiens) | 7240710 | | OMIM | | sialuria | | ISO | GNE (Homo sapiens) | 7240710 | | OMIM | | |
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GNE (Sus scrofa - pig) |
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GNE (Homo sapiens - human) |
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Gne (Mus musculus - house mouse) |
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Gne (Rattus norvegicus - Norway rat) |
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Gne (Chinchilla lanigera - long-tailed chinchilla) |
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GNE (Pan paniscus - bonobo/pygmy chimpanzee) |
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GNE (Canis lupus familiaris - dog) |
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Gne (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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GNE (Chlorocebus sabaeus - green monkey) |
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Gne (Heterocephalus glaber - naked mole-rat) |
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Variants in GNE
1896 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 | 7 | 3 | 2 | 5 | 2 | 1 | |||
Low | 3 | 4 | 3 | 2 | 18 | 2 | 1 | 2 | |
Below cutoff |
RefSeq Transcripts | NM_001167630 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_021083984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021083986 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021083990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021083996 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB529529 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AEMK02000005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK236517 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK346546 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK396782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK397618 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK399179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CU861629 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ132898 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GFLN01056152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSSSCT00000055202 ⟹ ENSSSCP00000034566 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000058473 ⟹ ENSSSCP00000057689 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000063939 ⟹ ENSSSCP00000055990 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000074688 ⟹ ENSSSCP00000065881 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001167630 ⟹ NP_001161102 | ||||||||
RefSeq Status: | PROVISIONAL | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021083984 ⟹ XP_020939643 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021083986 ⟹ XP_020939645 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021083990 ⟹ XP_020939649 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021083996 ⟹ XP_020939655 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001161102 | (Get FASTA) | NCBI Sequence Viewer |
XP_020939643 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020939645 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020939649 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020939655 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAZ30052 | (Get FASTA) | NCBI Sequence Viewer |
BAI47710 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSSSCP00000034566.2 | ||
ENSSSCP00000055990 | |||
ENSSSCP00000055990.2 | |||
ENSSSCP00000057689 | |||
ENSSSCP00000057689.2 | |||
ENSSSCP00000065881.2 | |||
ENSSSCP00005018897.1 | |||
ENSSSCP00005018905.1 | |||
ENSSSCP00005018919.1 | |||
ENSSSCP00015026799.1 | |||
ENSSSCP00015026860.1 | |||
ENSSSCP00030046060.1 | |||
ENSSSCP00030046082.1 | |||
ENSSSCP00030046109.1 | |||
ENSSSCP00035006489.1 | |||
ENSSSCP00035006496.1 | |||
ENSSSCP00040035116.1 | |||
ENSSSCP00040035137.1 | |||
ENSSSCP00045023307.1 | |||
ENSSSCP00045023388.1 | |||
ENSSSCP00050047996.1 | |||
ENSSSCP00050048005.1 | |||
ENSSSCP00050048016.1 | |||
ENSSSCP00060028045.1 | |||
ENSSSCP00060028049.1 | |||
ENSSSCP00065014380.1 | |||
ENSSSCP00065014385.1 | |||
ENSSSCP00070043818.1 | |||
ENSSSCP00070043881.1 | |||
ENSSSCP00070043923.1 | |||
ENSSSCP00070043954.1 | |||
ENSSSCP00070043958.1 |
RefSeq Acc Id: | XP_020939655 ⟸ XM_021083996 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8D1P7N1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020939643 ⟸ XM_021083984 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A4X1VK02 (UniProtKB/TrEMBL), A0A480PS03 (UniProtKB/TrEMBL), A0A8D0LLF6 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020939649 ⟸ XM_021083990 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A4X1VP99 (UniProtKB/TrEMBL), Q30E20 (UniProtKB/TrEMBL), A0A480TMZ9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020939645 ⟸ XM_021083986 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A4X1VP99 (UniProtKB/TrEMBL), Q30E20 (UniProtKB/TrEMBL), A0A480TMZ9 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001161102 ⟸ NM_001167630 |
- UniProtKB: | D0G6X6 (UniProtKB/TrEMBL), A0A8D0Y257 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSSSCP00000065881 ⟸ ENSSSCT00000074688 |
RefSeq Acc Id: | ENSSSCP00000057689 ⟸ ENSSSCT00000058473 |
RefSeq Acc Id: | ENSSSCP00000034566 ⟸ ENSSSCT00000055202 |
RefSeq Acc Id: | ENSSSCP00000055990 ⟸ ENSSSCT00000063939 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSSSCG00000037468 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSSSCG00005019376 | UniProtKB/TrEMBL | |
ENSSSCG00015049998 | UniProtKB/TrEMBL | |
ENSSSCG00030071361 | UniProtKB/TrEMBL | |
ENSSSCG00035014595 | UniProtKB/TrEMBL | |
ENSSSCG00040059539 | UniProtKB/TrEMBL | |
ENSSSCG00045019702 | UniProtKB/TrEMBL | |
ENSSSCG00050078573 | UniProtKB/TrEMBL | |
ENSSSCG00060048237 | UniProtKB/TrEMBL | |
ENSSSCG00065025822 | UniProtKB/TrEMBL | |
ENSSSCG00070025857 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSSSCT00000055202.2 | UniProtKB/TrEMBL |
ENSSSCT00000058473 | ENTREZGENE | |
ENSSSCT00000058473.3 | UniProtKB/TrEMBL | |
ENSSSCT00000063939 | ENTREZGENE | |
ENSSSCT00000063939.2 | UniProtKB/TrEMBL | |
ENSSSCT00000074688.2 | UniProtKB/TrEMBL | |
ENSSSCT00005030988.1 | UniProtKB/TrEMBL | |
ENSSSCT00005031001.1 | UniProtKB/TrEMBL | |
ENSSSCT00005031027.1 | UniProtKB/TrEMBL | |
ENSSSCT00015066823.1 | UniProtKB/TrEMBL | |
ENSSSCT00015066969.1 | UniProtKB/TrEMBL | |
ENSSSCT00030099923.1 | UniProtKB/TrEMBL | |
ENSSSCT00030099967.1 | UniProtKB/TrEMBL | |
ENSSSCT00030100016.1 | UniProtKB/TrEMBL | |
ENSSSCT00035018513.1 | UniProtKB/TrEMBL | |
ENSSSCT00035018525.1 | UniProtKB/TrEMBL | |
ENSSSCT00040080950.1 | UniProtKB/TrEMBL | |
ENSSSCT00040080980.1 | UniProtKB/TrEMBL | |
ENSSSCT00045033626.1 | UniProtKB/TrEMBL | |
ENSSSCT00045033727.1 | UniProtKB/TrEMBL | |
ENSSSCT00050108276.1 | UniProtKB/TrEMBL | |
ENSSSCT00050108288.1 | UniProtKB/TrEMBL | |
ENSSSCT00050108299.1 | UniProtKB/TrEMBL | |
ENSSSCT00060065499.1 | UniProtKB/TrEMBL | |
ENSSSCT00060065504.1 | UniProtKB/TrEMBL | |
ENSSSCT00065034609.1 | UniProtKB/TrEMBL | |
ENSSSCT00065034616.1 | UniProtKB/TrEMBL | |
ENSSSCT00070051795.1 | UniProtKB/TrEMBL | |
ENSSSCT00070051864.1 | UniProtKB/TrEMBL | |
ENSSSCT00070051908.1 | UniProtKB/TrEMBL | |
ENSSSCT00070051946.1 | UniProtKB/TrEMBL | |
ENSSSCT00070051950.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.30.420.40 | UniProtKB/TrEMBL |
Glycogen Phosphorylase B | UniProtKB/TrEMBL | |
InterPro | ATPase_NBD | UniProtKB/TrEMBL |
ROK | UniProtKB/TrEMBL | |
UDP-GlcNAc_Epase | UniProtKB/TrEMBL | |
UDP_GlcNAc_Epimerase_2_dom | UniProtKB/TrEMBL | |
KEGG Report | ssc:641344 | UniProtKB/TrEMBL |
NCBI Gene | GNE | ENTREZGENE |
PANTHER | BIFUNCTIONAL UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE | UniProtKB/TrEMBL |
PTHR18964 | UniProtKB/TrEMBL | |
Pfam | Epimerase_2 | UniProtKB/TrEMBL |
ROK | UniProtKB/TrEMBL | |
PRINTS | HEXOKINASE | UniProtKB/TrEMBL |
PROSITE | ROK | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF53067 | UniProtKB/TrEMBL |
UDP-Glycosyltransferase/glycogen phosphorylase | UniProtKB/TrEMBL | |
UniProt | A0A286ZSG0_PIG | UniProtKB/TrEMBL |
A0A287BHC3_PIG | UniProtKB/TrEMBL | |
A0A287BMG4_PIG | UniProtKB/TrEMBL | |
A0A480PS03 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A480TMZ9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1VK02 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1VP99 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1VQ60_PIG | UniProtKB/TrEMBL | |
A0A4X1VQY8_PIG | UniProtKB/TrEMBL | |
A0A5G2QP86_PIG | UniProtKB/TrEMBL | |
A0A8D0J014_PIG | UniProtKB/TrEMBL | |
A0A8D0J5V7_PIG | UniProtKB/TrEMBL | |
A0A8D0LLF6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0Y257 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1P7N1 | ENTREZGENE, UniProtKB/TrEMBL | |
D0G6X6 | ENTREZGENE, UniProtKB/TrEMBL | |
Q30E20 | ENTREZGENE, UniProtKB/TrEMBL | |
VGNC ID | VGNC:103101 | ENTREZGENE |