Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | progressive myoclonus epilepsy | | ISO | SACS (Homo sapiens) | 9068941 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25401298 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | progressive myoclonus epilepsy | | ISO | SACS (Homo sapiens) | 9068941 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25401298 | |
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SACS (Canis lupus familiaris - dog) |
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SACS (Homo sapiens - human) |
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Sacs (Mus musculus - house mouse) |
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Sacs (Rattus norvegicus - Norway rat) |
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Sacs (Chinchilla lanigera - long-tailed chinchilla) |
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SACS (Pan paniscus - bonobo/pygmy chimpanzee) |
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Sacs (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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SACS (Sus scrofa - pig) |
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SACS (Chlorocebus sabaeus - green monkey) |
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Sacs (Heterocephalus glaber - naked mole-rat) |
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Variants in SACS
1162 total Variants |
alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | reproductive system | respiratory system | adipose tissue | |
High | ||||||||||||
Medium | 6 | |||||||||||
Low | 5 | 5 | 16 | 6 | 6 | 6 | 6 | 8 | 10 | 6 | ||
Below cutoff | 6 | 6 | 6 |
RefSeq Transcripts | XM_005635545 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_014107391 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_014107392 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038435072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038435073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038435075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038458721 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038510049 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038573481 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038573482 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038573483 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038637778 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038637779 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038637780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AAEX04000025 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
JAAHUQ010000271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAQRD010000064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAUVH010000302 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
REHQ01000025 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSCAFT00000011468 ⟹ ENSCAFP00000010626 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000066845 ⟹ ENSCAFP00000057619 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000075502 ⟹ ENSCAFP00000062098 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845035264 ⟹ ENSCAFP00845027606 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845035342 ⟹ ENSCAFP00845027663 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845035425 ⟹ ENSCAFP00845027730 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_005635545 ⟹ XP_005635602 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_014107391 ⟹ XP_013962866 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_038435072 ⟹ XP_038291000 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038435073 ⟹ XP_038291001 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038435075 ⟹ XP_038291003 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038458721 ⟹ XP_038314649 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038510049 ⟹ XP_038365977 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038573481 ⟹ XP_038429409 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038573482 ⟹ XP_038429410 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038573483 ⟹ XP_038429411 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038637778 ⟹ XP_038493706 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038637779 ⟹ XP_038493707 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038637780 ⟹ XP_038493708 | ||||||||
Type: | CODING | ||||||||
Position: |
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Protein RefSeqs | XP_005635602 | (Get FASTA) | NCBI Sequence Viewer |
XP_013962866 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038291000 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038291001 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038291003 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038314649 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038365977 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038429409 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038429410 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038429411 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038493706 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038493707 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038493708 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSCAFP00000010626.4 | ||
ENSCAFP00000057619.2 | |||
ENSCAFP00000062098.2 | |||
ENSCAFP00030017564.1 | |||
ENSCAFP00030017618.1 | |||
ENSCAFP00030017676.1 | |||
ENSCAFP00030017735.1 | |||
ENSCAFP00040038006.1 | |||
ENSCAFP00040038011.1 | |||
ENSCAFP00040038019.1 | |||
ENSCAFP00845027606 | |||
ENSCAFP00845027606.1 | |||
ENSCAFP00845027663 | |||
ENSCAFP00845027663.1 | |||
ENSCAFP00845027730 | |||
ENSCAFP00845027730.1 |
RefSeq Acc Id: | XP_013962866 ⟸ XM_014107391 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0N5G7 (UniProtKB/TrEMBL), A0A8P0SCE1 (UniProtKB/TrEMBL), A0A8C0TLE3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005635602 ⟸ XM_005635545 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0N0X8 (UniProtKB/TrEMBL), A0A8P0TDR9 (UniProtKB/TrEMBL), A0A8C0TLE3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000010626 ⟸ ENSCAFT00000011468 |
RefSeq Acc Id: | ENSCAFP00000057619 ⟸ ENSCAFT00000066845 |
RefSeq Acc Id: | ENSCAFP00000062098 ⟸ ENSCAFT00000075502 |
RefSeq Acc Id: | XP_038365977 ⟸ XM_038510049 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038493706 ⟸ XM_038637778 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038493708 ⟸ XM_038637780 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038493707 ⟸ XM_038637779 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038291000 ⟸ XM_038435072 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8I3P765 (UniProtKB/TrEMBL), A0A8C0TLE3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038291003 ⟸ XM_038435075 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I3PGG1 (UniProtKB/TrEMBL), A0A8C0TLE3 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038291001 ⟸ XM_038435073 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I3P0N0 (UniProtKB/TrEMBL), A0A8C0MYV4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038314649 ⟸ XM_038458721 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8P0P6X0 (UniProtKB/TrEMBL), A0A8C0MYV4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038429409 ⟸ XM_038573481 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0N5G7 (UniProtKB/TrEMBL), A0A8C0TLE3 (UniProtKB/TrEMBL), A0A8P0SCE1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038429411 ⟸ XM_038573483 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0N0X8 (UniProtKB/TrEMBL), A0A8C0TLE3 (UniProtKB/TrEMBL), A0A8P0TDR9 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038429410 ⟸ XM_038573482 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0MYV4 (UniProtKB/TrEMBL), A0A8P0P6X0 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSCAFP00845027730 ⟸ ENSCAFT00845035425 |
RefSeq Acc Id: | ENSCAFP00845027663 ⟸ ENSCAFT00845035342 |
RefSeq Acc Id: | ENSCAFP00845027606 ⟸ ENSCAFT00845035264 |
RGD ID: | 13687736 | ||||||||
Promoter ID: | EPDNEW_C5803 | ||||||||
Type: | initiation region | ||||||||
Name: | SACS_1 | ||||||||
Description: | sacsin molecular chaperone | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000007146 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030010881 | UniProtKB/TrEMBL | |
ENSCAFG00040023444 | UniProtKB/TrEMBL | |
ENSCAFG00845020013 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000011468.5 | UniProtKB/TrEMBL |
ENSCAFT00000066845.2 | UniProtKB/TrEMBL | |
ENSCAFT00000075502.2 | UniProtKB/TrEMBL | |
ENSCAFT00030020140.1 | UniProtKB/TrEMBL | |
ENSCAFT00030020204.1 | UniProtKB/TrEMBL | |
ENSCAFT00030020269.1 | UniProtKB/TrEMBL | |
ENSCAFT00030020331.1 | UniProtKB/TrEMBL | |
ENSCAFT00040043570.1 | UniProtKB/TrEMBL | |
ENSCAFT00040043577.1 | UniProtKB/TrEMBL | |
ENSCAFT00040043585.1 | UniProtKB/TrEMBL | |
ENSCAFT00845035264 | ENTREZGENE | |
ENSCAFT00845035264.1 | UniProtKB/TrEMBL | |
ENSCAFT00845035342 | ENTREZGENE | |
ENSCAFT00845035342.1 | UniProtKB/TrEMBL | |
ENSCAFT00845035425 | ENTREZGENE | |
ENSCAFT00845035425.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.287.110 | UniProtKB/TrEMBL |
3.30.565.10 | UniProtKB/TrEMBL | |
Nucleotidyltransferases domain 2 | UniProtKB/TrEMBL | |
InterPro | DnaJ_domain | UniProtKB/TrEMBL |
HATPase_C_sf | UniProtKB/TrEMBL | |
HEPN_dom | UniProtKB/TrEMBL | |
J_dom_sf | UniProtKB/TrEMBL | |
Ubiquitin-like_dom | UniProtKB/TrEMBL | |
Ubiquitin-like_domsf | UniProtKB/TrEMBL | |
NCBI Gene | SACS | ENTREZGENE |
PANTHER | SACSIN | UniProtKB/TrEMBL |
SACSIN | UniProtKB/TrEMBL | |
SACSIN ISOFORM X1 | UniProtKB/TrEMBL | |
ZINC FINGER, C3HC4 TYPE (RING FINGER) FAMILY PROTEIN | UniProtKB/TrEMBL | |
Pfam | HEPN | UniProtKB/TrEMBL |
ubiquitin | UniProtKB/TrEMBL | |
PROSITE | DNAJ_2 | UniProtKB/TrEMBL |
HEPN | UniProtKB/TrEMBL | |
UBIQUITIN_2 | UniProtKB/TrEMBL | |
SMART | HEPN | UniProtKB/TrEMBL |
UBQ | UniProtKB/TrEMBL | |
Superfamily-SCOP | Nucleotidyltransferase substrate binding subunit/domain | UniProtKB/TrEMBL |
SSF46565 | UniProtKB/TrEMBL | |
SSF54236 | UniProtKB/TrEMBL | |
SSF55874 | UniProtKB/TrEMBL | |
UniProt | A0A8C0MYV4 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8C0N0I6_CANLF | UniProtKB/TrEMBL | |
A0A8C0N0X8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0N5G7 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0TLE3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0TQ34_CANLF | UniProtKB/TrEMBL | |
A0A8C0Z5F7_CANLF | UniProtKB/TrEMBL | |
A0A8I3P0N0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3P765 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3PGG1 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0P6X0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0SCE1 | ENTREZGENE | |
A0A8P0TDR9 | ENTREZGENE | |
UniProt Secondary | A0A8P0SCE1 | UniProtKB/TrEMBL |
A0A8P0TDR9 | UniProtKB/TrEMBL | |
VGNC ID | VGNC:45842 | ENTREZGENE |