Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | ACSS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | ACSS1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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ACSS1 (Sus scrofa - pig) |
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ACSS1 (Homo sapiens - human) |
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Acss1 (Mus musculus - house mouse) |
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Acss1 (Rattus norvegicus - Norway rat) |
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Acss1 (Chinchilla lanigera - long-tailed chinchilla) |
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ACSS1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ACSS1 (Canis lupus familiaris - dog) |
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Acss1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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LOC103247057 (Chlorocebus sabaeus - green monkey) |
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Acss1 (Heterocephalus glaber - naked mole-rat) |
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Variants in ACSS1
970 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 | 8 | 4 | 4 | 2 | 1 | 2 | |||
Low | 2 | 3 | 1 | 2 | 23 | 2 | 1 | ||
Below cutoff |
RefSeq Transcripts | XM_001927113 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_005672761 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_021078074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_002340090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AEMK02000106 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
FP565328 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GFLN01012704 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSSSCT00000044534 ⟹ ENSSSCP00000047124 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000056062 ⟹ ENSSSCP00000052353 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000063197 ⟹ ENSSSCP00000052938 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSSSCT00000095573 ⟹ ENSSSCP00000078290 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_001927113 ⟹ XP_001927148 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_005672761 ⟹ XP_005672818 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_021078074 ⟹ XP_020933733 | ||||||||
Type: | CODING | ||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XR_002340090 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Sequence: |
Protein RefSeqs | XP_001927148 | (Get FASTA) | NCBI Sequence Viewer |
XP_005672818 | (Get FASTA) | NCBI Sequence Viewer | |
XP_020933733 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSSSCP00000047124 | ||
ENSSSCP00000047124.1 | |||
ENSSSCP00000052353 | |||
ENSSSCP00000052353.1 | |||
ENSSSCP00000052938.2 | |||
ENSSSCP00000078290 | |||
ENSSSCP00000078290.1 | |||
ENSSSCP00025033730.1 | |||
ENSSSCP00030029765.1 | |||
ENSSSCP00030029776.1 | |||
ENSSSCP00030029809.1 | |||
ENSSSCP00030029865.1 | |||
ENSSSCP00030029885.1 | |||
ENSSSCP00030029908.1 | |||
ENSSSCP00035026391.1 | |||
ENSSSCP00035026397.1 | |||
ENSSSCP00035026402.1 | |||
ENSSSCP00035026405.1 | |||
ENSSSCP00040012272.1 | |||
ENSSSCP00040012290.1 | |||
ENSSSCP00040012302.1 | |||
ENSSSCP00040012319.1 | |||
ENSSSCP00045023179.1 | |||
ENSSSCP00045023343.1 | |||
ENSSSCP00045023408.1 | |||
ENSSSCP00045023456.1 | |||
ENSSSCP00045023509.1 | |||
ENSSSCP00050015337.1 | |||
ENSSSCP00050015342.1 | |||
ENSSSCP00055021940.1 | |||
ENSSSCP00055022012.1 | |||
ENSSSCP00055022061.1 | |||
ENSSSCP00055022143.1 | |||
ENSSSCP00060032618.1 | |||
ENSSSCP00060032628.1 | |||
ENSSSCP00060032634.1 | |||
ENSSSCP00065026484.1 | |||
ENSSSCP00065026493.1 | |||
ENSSSCP00065026502.1 | |||
ENSSSCP00065026506.1 | |||
ENSSSCP00070036530.1 | |||
ENSSSCP00070036541.1 | |||
ENSSSCP00070036547.1 | |||
ENSSSCP00070036558.1 |
RefSeq Acc Id: | XP_001927148 ⟸ XM_001927113 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8D1HUM9 (UniProtKB/TrEMBL), A0A480WRN0 (UniProtKB/TrEMBL), A0A480ZG17 (UniProtKB/TrEMBL), A0A481B8E5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005672818 ⟸ XM_005672761 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A287B7Q9 (UniProtKB/TrEMBL), A0A4X1V1J2 (UniProtKB/TrEMBL), A0A8D0UW35 (UniProtKB/TrEMBL), A0A8D1LXF6 (UniProtKB/TrEMBL), A0A8D1U2H3 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_020933733 ⟸ XM_021078074 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A287AT39 (UniProtKB/TrEMBL), A0A4X1V6Y3 (UniProtKB/TrEMBL), A0A8D1QTS1 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSSSCP00000047124 ⟸ ENSSSCT00000044534 |
RefSeq Acc Id: | ENSSSCP00000052353 ⟸ ENSSSCT00000056062 |
RefSeq Acc Id: | ENSSSCP00000052938 ⟸ ENSSSCT00000063197 |
RefSeq Acc Id: | ENSSSCP00000078290 ⟸ ENSSSCT00000095573 |
Database | Acc Id | Source(s) |
Ensembl Genes | ENSSSCG00000007133 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
ENSSSCG00025055835 | UniProtKB/TrEMBL | |
ENSSSCG00030046687 | UniProtKB/TrEMBL | |
ENSSSCG00035048934 | UniProtKB/TrEMBL | |
ENSSSCG00040021059 | UniProtKB/TrEMBL | |
ENSSSCG00045019552 | UniProtKB/TrEMBL | |
ENSSSCG00050027225 | UniProtKB/TrEMBL | |
ENSSSCG00055013758 | UniProtKB/TrEMBL | |
ENSSSCG00060055423 | UniProtKB/TrEMBL | |
ENSSSCG00065044674 | UniProtKB/TrEMBL | |
ENSSSCG00070021840 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENSSSCT00000044534 | ENTREZGENE |
ENSSSCT00000044534.3 | UniProtKB/TrEMBL | |
ENSSSCT00000056062 | ENTREZGENE | |
ENSSSCT00000056062.3 | UniProtKB/TrEMBL | |
ENSSSCT00000063197.3 | UniProtKB/TrEMBL | |
ENSSSCT00000095573 | ENTREZGENE | |
ENSSSCT00000095573.1 | UniProtKB/TrEMBL | |
ENSSSCT00025077836.1 | UniProtKB/TrEMBL | |
ENSSSCT00030065155.1 | UniProtKB/TrEMBL | |
ENSSSCT00030065181.1 | UniProtKB/TrEMBL | |
ENSSSCT00030065259.1 | UniProtKB/TrEMBL | |
ENSSSCT00030065362.1 | UniProtKB/TrEMBL | |
ENSSSCT00030065392.1 | UniProtKB/TrEMBL | |
ENSSSCT00030065429.1 | UniProtKB/TrEMBL | |
ENSSSCT00035065188.1 | UniProtKB/TrEMBL | |
ENSSSCT00035065195.1 | UniProtKB/TrEMBL | |
ENSSSCT00035065202.1 | UniProtKB/TrEMBL | |
ENSSSCT00035065206.1 | UniProtKB/TrEMBL | |
ENSSSCT00040029316.1 | UniProtKB/TrEMBL | |
ENSSSCT00040029370.1 | UniProtKB/TrEMBL | |
ENSSSCT00040029397.1 | UniProtKB/TrEMBL | |
ENSSSCT00040029449.1 | UniProtKB/TrEMBL | |
ENSSSCT00045033431.1 | UniProtKB/TrEMBL | |
ENSSSCT00045033671.1 | UniProtKB/TrEMBL | |
ENSSSCT00045033764.1 | UniProtKB/TrEMBL | |
ENSSSCT00045033840.1 | UniProtKB/TrEMBL | |
ENSSSCT00045033910.1 | UniProtKB/TrEMBL | |
ENSSSCT00050036919.1 | UniProtKB/TrEMBL | |
ENSSSCT00050036937.1 | UniProtKB/TrEMBL | |
ENSSSCT00055027566.1 | UniProtKB/TrEMBL | |
ENSSSCT00055027649.1 | UniProtKB/TrEMBL | |
ENSSSCT00055027709.1 | UniProtKB/TrEMBL | |
ENSSSCT00055027807.1 | UniProtKB/TrEMBL | |
ENSSSCT00060075512.1 | UniProtKB/TrEMBL | |
ENSSSCT00060075528.1 | UniProtKB/TrEMBL | |
ENSSSCT00060075540.1 | UniProtKB/TrEMBL | |
ENSSSCT00065061134.1 | UniProtKB/TrEMBL | |
ENSSSCT00065061146.1 | UniProtKB/TrEMBL | |
ENSSSCT00065061160.1 | UniProtKB/TrEMBL | |
ENSSSCT00065061174.1 | UniProtKB/TrEMBL | |
ENSSSCT00070043408.1 | UniProtKB/TrEMBL | |
ENSSSCT00070043419.1 | UniProtKB/TrEMBL | |
ENSSSCT00070043426.1 | UniProtKB/TrEMBL | |
ENSSSCT00070043438.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.30.300.30 | UniProtKB/TrEMBL |
3.40.50.12780 | UniProtKB/TrEMBL | |
InterPro | Ac_CoA_lig | UniProtKB/TrEMBL |
ACAS_N | UniProtKB/TrEMBL | |
AMP-bd_C | UniProtKB/TrEMBL | |
AMP-bd_C_sf | UniProtKB/TrEMBL | |
AMP-binding_CS | UniProtKB/TrEMBL | |
AMP-dep_Synth/Lig | UniProtKB/TrEMBL | |
AMP-dep_Synthh-like_sf | UniProtKB/TrEMBL | |
NCBI Gene | ACSS1 | ENTREZGENE |
PANTHER | ACETYL-COENZYME A SYNTHETASE | UniProtKB/TrEMBL |
ACETYL-COENZYME A SYNTHETASE 2-LIKE, MITOCHONDRIAL | UniProtKB/TrEMBL | |
Pfam | ACAS_N | UniProtKB/TrEMBL |
AMP-binding | UniProtKB/TrEMBL | |
AMP-binding_C | UniProtKB/TrEMBL | |
PROSITE | AMP_BINDING | UniProtKB/TrEMBL |
Superfamily-SCOP | Acetyl-CoA synthetase-like | UniProtKB/TrEMBL |
UniProt | A0A287AT39 | ENTREZGENE, UniProtKB/TrEMBL |
A0A287B7Q9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A287BA23_PIG | UniProtKB/TrEMBL | |
A0A480WRN0 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A480ZG17 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A481B8E5 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1V1J2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A4X1V591_PIG | UniProtKB/TrEMBL | |
A0A4X1V5X6_PIG | UniProtKB/TrEMBL | |
A0A4X1V6Y3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0UW35 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D0WYY7_PIG | UniProtKB/TrEMBL | |
A0A8D0X2Y8_PIG | UniProtKB/TrEMBL | |
A0A8D0X3W5_PIG | UniProtKB/TrEMBL | |
A0A8D0X5A5_PIG | UniProtKB/TrEMBL | |
A0A8D1CA93_PIG | UniProtKB/TrEMBL | |
A0A8D1HUM9 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1LXF6 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1LXQ8_PIG | UniProtKB/TrEMBL | |
A0A8D1QMV3_PIG | UniProtKB/TrEMBL | |
A0A8D1QTS1 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8D1U2H3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8W4FGC5_PIG | UniProtKB/TrEMBL | |
VGNC ID | VGNC:95732 | ENTREZGENE |