Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | CS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | CS (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | |
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CS (Canis lupus familiaris - dog) |
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CS (Homo sapiens - human) |
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Cs (Mus musculus - house mouse) |
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Cs (Rattus norvegicus - Norway rat) |
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Cs (Chinchilla lanigera - long-tailed chinchilla) |
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CS (Pan paniscus - bonobo/pygmy chimpanzee) |
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Cs (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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CS (Sus scrofa - pig) |
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CS (Chlorocebus sabaeus - green monkey) |
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Variants in CS
264 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 | 5 | 5 | 22 | 6 | 6 | 6 | 6 | 6 | 12 | 10 | 6 | |
Low | 8 | |||||||||||
Below cutoff |
RefSeq Transcripts | XM_022424052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_038487782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038487783 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038549672 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038549673 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038613638 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038613639 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038679003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_038679004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_531634 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AAEX04000010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
DQ403135 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAHUQ010000097 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAQRD010000002 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAAUVH010000358 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
REHQ01000010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSCAFT00000000188 ⟹ ENSCAFP00000000167 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00000087840 ⟹ ENSCAFP00000049199 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845013633 ⟹ ENSCAFP00845010587 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845013692 ⟹ ENSCAFP00845010628 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845013771 ⟹ ENSCAFP00845010689 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSCAFT00845013817 ⟹ ENSCAFP00845010719 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_022424052 ⟹ XP_022279760 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_038487782 ⟹ XP_038343710 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038487783 ⟹ XP_038343711 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038549672 ⟹ XP_038405600 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038549673 ⟹ XP_038405601 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038613638 ⟹ XP_038469566 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038613639 ⟹ XP_038469567 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038679003 ⟹ XP_038534931 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_038679004 ⟹ XP_038534932 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_531634 ⟹ XP_531634 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | XP_022279760 | (Get FASTA) | NCBI Sequence Viewer |
XP_038343710 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038343711 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038405600 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038405601 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038469566 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038469567 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038534931 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038534932 | (Get FASTA) | NCBI Sequence Viewer | |
XP_531634 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | ABD77268 | (Get FASTA) | NCBI Sequence Viewer |
Ensembl Protein | ENSCAFP00000000167.4 | ||
ENSCAFP00000049199.2 | |||
ENSCAFP00000070964.1 | |||
ENSCAFP00000071598.1 | |||
ENSCAFP00030022481.1 | |||
ENSCAFP00030022554.1 | |||
ENSCAFP00040008600.1 | |||
ENSCAFP00040008629.1 | |||
ENSCAFP00845010587.1 | |||
ENSCAFP00845010628.1 | |||
ENSCAFP00845010689 | |||
ENSCAFP00845010689.1 | |||
ENSCAFP00845010719 | |||
ENSCAFP00845010719.1 |
RefSeq Acc Id: | XP_531634 ⟸ XM_531634 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0QGS7 (UniProtKB/TrEMBL), A0A8I3RVM2 (UniProtKB/TrEMBL), A0A8C0Q4T7 (UniProtKB/TrEMBL), A0A8I3N305 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022279760 ⟸ XM_022424052 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0Q4T7 (UniProtKB/TrEMBL), A0A8I3N305 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000049199 ⟸ ENSCAFT00000087840 |
RefSeq Acc Id: | ENSCAFP00000000167 ⟸ ENSCAFT00000000188 |
RefSeq Acc Id: | XP_038343710 ⟸ XM_038487782 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038343711 ⟸ XM_038487783 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038469566 ⟸ XM_038613638 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038469567 ⟸ XM_038613639 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038534931 ⟸ XM_038679003 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0QGS7 (UniProtKB/TrEMBL), A0A8I3RVM2 (UniProtKB/TrEMBL), A0A8C0Q4T7 (UniProtKB/TrEMBL), A0A8I3N305 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038534932 ⟸ XM_038679004 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0Q4T7 (UniProtKB/TrEMBL), A0A8I3N305 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038405600 ⟸ XM_038549672 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0Q4T7 (UniProtKB/TrEMBL), A0A8C0QGS7 (UniProtKB/TrEMBL), A0A8I3N305 (UniProtKB/TrEMBL), A0A8I3RVM2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038405601 ⟸ XM_038549673 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0Q4T7 (UniProtKB/TrEMBL), A0A8I3N305 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSCAFP00845010719 ⟸ ENSCAFT00845013817 |
RefSeq Acc Id: | ENSCAFP00845010628 ⟸ ENSCAFT00845013692 |
RefSeq Acc Id: | ENSCAFP00845010689 ⟸ ENSCAFT00845013771 |
RefSeq Acc Id: | ENSCAFP00845010587 ⟸ ENSCAFT00845013633 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000000115 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030013773 | UniProtKB/TrEMBL | |
ENSCAFG00040005230 | UniProtKB/TrEMBL | |
ENSCAFG00845007644 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000000188.5 | UniProtKB/TrEMBL |
ENSCAFT00000087840.2 | UniProtKB/TrEMBL | |
ENSCAFT00000099686.1 | UniProtKB/TrEMBL | |
ENSCAFT00000105446.1 | UniProtKB/TrEMBL | |
ENSCAFT00030025744.1 | UniProtKB/TrEMBL | |
ENSCAFT00030025823.1 | UniProtKB/TrEMBL | |
ENSCAFT00040009917.1 | UniProtKB/TrEMBL | |
ENSCAFT00040009951.1 | UniProtKB/TrEMBL | |
ENSCAFT00845013633.1 | UniProtKB/TrEMBL | |
ENSCAFT00845013692.1 | UniProtKB/TrEMBL | |
ENSCAFT00845013771 | ENTREZGENE | |
ENSCAFT00845013771.1 | UniProtKB/TrEMBL | |
ENSCAFT00845013817 | ENTREZGENE | |
ENSCAFT00845013817.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 1.10.230.10 | UniProtKB/TrEMBL |
1.10.580.10 | UniProtKB/TrEMBL | |
InterPro | Citrate_synth-like_lrg_a-sub | UniProtKB/TrEMBL |
Citrate_synth-like_sm_a-sub | UniProtKB/TrEMBL | |
Citrate_synthase | UniProtKB/TrEMBL | |
Citrate_synthase_AS | UniProtKB/TrEMBL | |
Citrate_synthase_euk | UniProtKB/TrEMBL | |
Citrate_synthase_sf | UniProtKB/TrEMBL | |
NCBI Gene | CS | ENTREZGENE |
PANTHER | CITRATE SYNTHASE, MITOCHONDRIAL | UniProtKB/TrEMBL |
PTHR11739 | UniProtKB/TrEMBL | |
Pfam | Citrate_synt | UniProtKB/TrEMBL |
PRINTS | CITRTSNTHASE | UniProtKB/TrEMBL |
PROSITE | CITRATE_SYNTHASE | UniProtKB/TrEMBL |
Superfamily-SCOP | SSF48256 | UniProtKB/TrEMBL |
UniProt | A0A8C0Q4T7 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8C0QGS7 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3N305 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3N4N0_CANLF | UniProtKB/TrEMBL | |
A0A8I3N6V8_CANLF | UniProtKB/TrEMBL | |
A0A8I3RVM2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0T1Y0_CANLF | UniProtKB/TrEMBL | |
A0A8P0TQ12_CANLF | UniProtKB/TrEMBL | |
Q0QEK9_CANLF | UniProtKB/TrEMBL | |
VGNC ID | VGNC:49800 | ENTREZGENE |