Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hypoplastic left heart syndrome | | ISO | SAP130 (Homo sapiens) | 9068941 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28530678 | |
|
Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | hypoplastic left heart syndrome | | ISO | SAP130 (Homo sapiens) | 9068941 | CTD Direct Evidence: marker/mechanism | CTD | PMID:28530678 | |
|
|
|
|
SAP130 (Canis lupus familiaris - dog) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SAP130 (Homo sapiens - human) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sap130 (Mus musculus - house mouse) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sap130 (Rattus norvegicus - Norway rat) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sap130 (Chinchilla lanigera - long-tailed chinchilla) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SAP130 (Pan paniscus - bonobo/pygmy chimpanzee) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sap130 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SAP130 (Sus scrofa - pig) |
|
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SAP130 (Chlorocebus sabaeus - green monkey) |
|
.
Variants in SAP130
923 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 | 8 | 1 | ||||||||
Low | 5 | 5 | 17 | 6 | 6 | 6 | 6 | 6 | 7 | 9 | 6 | |
Below cutoff |
RefSeq Acc Id: | ENSCAFT00000006901 ⟹ ENSCAFP00000006388 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSCAFT00000047734 ⟹ ENSCAFP00000039716 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSCAFT00000081842 ⟹ ENSCAFP00000043891 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSCAFT00000087115 ⟹ ENSCAFP00000052113 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSCAFT00000091370 ⟹ ENSCAFP00000045252 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSCAFT00845035201 ⟹ ENSCAFP00845027554 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSCAFT00845035395 ⟹ ENSCAFP00845027706 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSCAFT00845035611 ⟹ ENSCAFP00845027857 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | ENSCAFT00845035802 ⟹ ENSCAFP00845028010 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_005631859 ⟹ XP_005631916 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_005631860 ⟹ XP_005631917 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_022406004 ⟹ XP_022261712 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_022406005 ⟹ XP_022261713 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_022406006 ⟹ XP_022261714 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XM_038425916 ⟹ XP_038281844 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038425917 ⟹ XP_038281845 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038425918 ⟹ XP_038281846 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038425919 ⟹ XP_038281847 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038425920 ⟹ XP_038281848 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038425921 ⟹ XP_038281849 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038425922 ⟹ XP_038281850 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038454688 ⟹ XP_038310616 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038502129 ⟹ XP_038358057 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038502130 ⟹ XP_038358058 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038502131 ⟹ XP_038358059 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038502132 ⟹ XP_038358060 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038502133 ⟹ XP_038358061 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038502134 ⟹ XP_038358062 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038502135 ⟹ XP_038358063 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038564813 ⟹ XP_038420741 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038564814 ⟹ XP_038420742 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038564815 ⟹ XP_038420743 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038564816 ⟹ XP_038420744 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038564817 ⟹ XP_038420745 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038564818 ⟹ XP_038420746 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038564819 ⟹ XP_038420747 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038628909 ⟹ XP_038484837 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038628910 ⟹ XP_038484838 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038628911 ⟹ XP_038484839 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038628912 ⟹ XP_038484840 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038628913 ⟹ XP_038484841 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038628914 ⟹ XP_038484842 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_038628915 ⟹ XP_038484843 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | XM_533311 ⟹ XP_533311 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
|
||||||||||||
Sequence: |
RefSeq Acc Id: | XP_005631916 ⟸ XM_005631859 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I3S1F3 (UniProtKB/TrEMBL), A0A8P0NVH7 (UniProtKB/TrEMBL), A0A8C0JRI4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_005631917 ⟸ XM_005631860 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A8I3S4B2 (UniProtKB/TrEMBL), A0A8P0SX29 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_533311 ⟸ XM_533311 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0JSA8 (UniProtKB/TrEMBL), A0A8C0Z1N8 (UniProtKB/TrEMBL), A0A8I3PBT2 (UniProtKB/TrEMBL), A0A8C0JRI4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022261712 ⟸ XM_022406004 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0JRI4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022261714 ⟸ XM_022406006 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A8I3S4B2 (UniProtKB/TrEMBL), A0A8P0SX29 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_022261713 ⟸ XM_022406005 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0Z1K7 (UniProtKB/TrEMBL), A0A8C0JQI2 (UniProtKB/TrEMBL), A0A8I3PB50 (UniProtKB/TrEMBL), A0A8P0S9X2 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSCAFP00000052113 ⟸ ENSCAFT00000087115 |
RefSeq Acc Id: | ENSCAFP00000045252 ⟸ ENSCAFT00000091370 |
RefSeq Acc Id: | ENSCAFP00000043891 ⟸ ENSCAFT00000081842 |
RefSeq Acc Id: | ENSCAFP00000039716 ⟸ ENSCAFT00000047734 |
RefSeq Acc Id: | ENSCAFP00000006388 ⟸ ENSCAFT00000006901 |
RefSeq Acc Id: | XP_038358059 ⟸ XM_038502131 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038358058 ⟸ XM_038502130 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038358062 ⟸ XM_038502134 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_038358061 ⟸ XM_038502133 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038358063 ⟸ XM_038502135 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_038358057 ⟸ XM_038502129 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038358060 ⟸ XM_038502132 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038484839 ⟸ XM_038628911 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038484838 ⟸ XM_038628910 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038484842 ⟸ XM_038628914 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_038484841 ⟸ XM_038628913 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038484843 ⟸ XM_038628915 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | XP_038484837 ⟸ XM_038628909 |
- Peptide Label: | isoform X1 |
RefSeq Acc Id: | XP_038484840 ⟸ XM_038628912 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038281846 ⟸ XM_038425918 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I3S1F3 (UniProtKB/TrEMBL), A0A8P0NVH7 (UniProtKB/TrEMBL), A0A8C0JRI4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038281845 ⟸ XM_038425917 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0JRI4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038281849 ⟸ XM_038425921 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A8P0T4R1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038281848 ⟸ XM_038425920 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A8I3S4B2 (UniProtKB/TrEMBL), A0A8P0SX29 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038281850 ⟸ XM_038425922 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A8I3S4B2 (UniProtKB/TrEMBL), A0A8P0SX29 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038281844 ⟸ XM_038425916 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0JSA8 (UniProtKB/TrEMBL), A0A8C0Z1N8 (UniProtKB/TrEMBL), A0A8I3PBT2 (UniProtKB/TrEMBL), A0A8C0JRI4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038281847 ⟸ XM_038425919 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0Z1K7 (UniProtKB/TrEMBL), A0A8C0JQI2 (UniProtKB/TrEMBL), A0A8I3PB50 (UniProtKB/TrEMBL), A0A8P0S9X2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038310616 ⟸ XM_038454688 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A8P0T4R1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038420743 ⟸ XM_038564815 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8C0JRI4 (UniProtKB/TrEMBL), A0A8I3S1F3 (UniProtKB/TrEMBL), A0A8P0NVH7 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038420742 ⟸ XM_038564814 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8C0JRI4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038420746 ⟸ XM_038564818 |
- Peptide Label: | isoform X6 |
- UniProtKB: | A0A8P0T4R1 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038420745 ⟸ XM_038564817 |
- Peptide Label: | isoform X5 |
- UniProtKB: | A0A8I3S4B2 (UniProtKB/TrEMBL), A0A8P0SX29 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038420747 ⟸ XM_038564819 |
- Peptide Label: | isoform X7 |
- UniProtKB: | A0A8I3S4B2 (UniProtKB/TrEMBL), A0A8P0SX29 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038420741 ⟸ XM_038564813 |
- Peptide Label: | isoform X1 |
- UniProtKB: | A0A8C0JRI4 (UniProtKB/TrEMBL), A0A8C0JSA8 (UniProtKB/TrEMBL), A0A8C0Z1N8 (UniProtKB/TrEMBL), A0A8I3PBT2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038420744 ⟸ XM_038564816 |
- Peptide Label: | isoform X4 |
- UniProtKB: | A0A8C0JQI2 (UniProtKB/TrEMBL), A0A8C0Z1K7 (UniProtKB/TrEMBL), A0A8I3PB50 (UniProtKB/TrEMBL), A0A8P0S9X2 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | ENSCAFP00845028010 ⟸ ENSCAFT00845035802 |
RefSeq Acc Id: | ENSCAFP00845027554 ⟸ ENSCAFT00845035201 |
RefSeq Acc Id: | ENSCAFP00845027706 ⟸ ENSCAFT00845035395 |
RefSeq Acc Id: | ENSCAFP00845027857 ⟸ ENSCAFT00845035611 |
RGD ID: | 13686703 | ||||||||
Promoter ID: | EPDNEW_C4771 | ||||||||
Type: | initiation region | ||||||||
Name: | SAP130_1 | ||||||||
Description: | Sin3A associated protein 130 | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
Ensembl Genes | ENSCAFG00000004290 | Ensembl, UniProtKB/TrEMBL |
ENSCAFG00030012070 | UniProtKB/TrEMBL | |
ENSCAFG00040018392 | UniProtKB/TrEMBL | |
ENSCAFG00845019767 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL | |
Ensembl Transcript | ENSCAFT00000006901.6 | UniProtKB/TrEMBL |
ENSCAFT00000047734.3 | UniProtKB/TrEMBL | |
ENSCAFT00000081842.2 | UniProtKB/TrEMBL | |
ENSCAFT00000087115.2 | UniProtKB/TrEMBL | |
ENSCAFT00000091370.2 | UniProtKB/TrEMBL | |
ENSCAFT00030022987.1 | UniProtKB/TrEMBL | |
ENSCAFT00030023133.1 | UniProtKB/TrEMBL | |
ENSCAFT00040034515.1 | UniProtKB/TrEMBL | |
ENSCAFT00040034559.1 | UniProtKB/TrEMBL | |
ENSCAFT00845035201 | ENTREZGENE | |
ENSCAFT00845035201.1 | UniProtKB/TrEMBL | |
ENSCAFT00845035395.1 | UniProtKB/TrEMBL | |
ENSCAFT00845035611 | ENTREZGENE | |
ENSCAFT00845035611.1 | UniProtKB/TrEMBL | |
ENSCAFT00845035802 | ENTREZGENE | |
ENSCAFT00845035802.1 | UniProtKB/TrEMBL | |
InterPro | His_deAcase_cplx_SAP130 | UniProtKB/TrEMBL |
SAP130_C | UniProtKB/TrEMBL | |
NCBI Gene | SAP130 | ENTREZGENE |
PANTHER | HISTONE DEACETYLASE COMPLEX SUBUNIT SAP130 | UniProtKB/TrEMBL |
PTHR13497 | UniProtKB/TrEMBL | |
Pfam | SAP130_C | UniProtKB/TrEMBL |
UniProt | A0A8C0JQI2 | ENTREZGENE |
A0A8C0JRI4 | ENTREZGENE | |
A0A8C0JSA8 | ENTREZGENE | |
A0A8C0Z1K7 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8C0Z1N8 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3PB50 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3PBT2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3S1F3 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I3S4B2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0NVH7 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0S9X2 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0SX29 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8P0T4R1 | ENTREZGENE, UniProtKB/TrEMBL | |
VGNC ID | VGNC:45858 | ENTREZGENE |