Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PHARC syndrome | | ISO | ABHD12 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | PHARC syndrome | | ISO | ABHD12 (Homo sapiens) | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | | |
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# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
3. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
4. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
5. | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11. |
PMID:18096503 | PMID:22632720 | PMID:22969151 | PMID:23297193 | PMID:25290914 | PMID:25580854 | PMID:27307232 | PMID:30237167 | PMID:30643283 |
Abhd12 (Rattus norvegicus - Norway rat) |
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ABHD12 (Homo sapiens - human) |
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Abhd12 (Mus musculus - house mouse) |
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Abhd12 (Chinchilla lanigera - long-tailed chinchilla) |
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ABHD12 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ABHD12 (Canis lupus familiaris - dog) |
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Abhd12 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ABHD12 (Sus scrofa - pig) |
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ABHD12 (Chlorocebus sabaeus - green monkey) |
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Abhd12 (Heterocephalus glaber - naked mole-rat) |
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Variants in Abhd12
204 total Variants |
The detailed report is available here: | Full Report | CSV | TAB | Printer | ||||
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
AA924737 |
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RH140375 |
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BF414488 |
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alimentary part of gastrointestinal system | circulatory system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | |||||||||||||
Medium | 3 | 38 | 55 | 39 | 19 | 39 | 1 | 2 | 74 | 35 | 41 | 11 | 1 |
Low | 5 | 2 | 2 | 2 | 7 | 9 | 7 | ||||||
Below cutoff |
RefSeq Transcripts | NM_001024314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_063284387 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_010064685 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | BC078918 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
CH474050 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000010641 ⟹ ENSRNOP00000010640 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000098567 ⟹ ENSRNOP00000091747 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000111107 ⟹ ENSRNOP00000097732 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001024314 ⟹ NP_001019485 | ||||||||||||||||||||||||||||
RefSeq Status: | PROVISIONAL | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_063284387 ⟹ XP_063140457 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_010064685 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Protein RefSeqs | NP_001019485 | (Get FASTA) | NCBI Sequence Viewer |
XP_063140457 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH78918 | (Get FASTA) | NCBI Sequence Viewer |
EDL86133 | (Get FASTA) | NCBI Sequence Viewer | |
EDL86134 | (Get FASTA) | NCBI Sequence Viewer | |
EDL86135 | (Get FASTA) | NCBI Sequence Viewer | |
EDL86136 | (Get FASTA) | NCBI Sequence Viewer | |
EDL86137 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000010640 | ||
ENSRNOP00000010640.5 | |||
ENSRNOP00000091747.1 | |||
ENSRNOP00000097732.1 | |||
ENSRNOP00055033122 | |||
ENSRNOP00060001906 | |||
ENSRNOP00065033715 | |||
GenBank Protein | Q6AYT7 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_001019485 ⟸ NM_001024314 |
- UniProtKB: | Q6AYT7 (UniProtKB/Swiss-Prot), A0A8I6ATI5 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000010640 ⟸ ENSRNOT00000010641 |
RefSeq Acc Id: | ENSRNOP00000091747 ⟸ ENSRNOT00000098567 |
RefSeq Acc Id: | ENSRNOP00000097732 ⟸ ENSRNOT00000111107 |
RefSeq Acc Id: | XP_063140457 ⟸ XM_063284387 |
- Peptide Label: | isoform X1 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q6AYT7-F1-model_v2 | AlphaFold | Q6AYT7 | 1-398 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13692519 | ||||||||
Promoter ID: | EPDNEW_R3044 | ||||||||
Type: | initiation region | ||||||||
Name: | Abhd12_1 | ||||||||
Description: | abhydrolase domain containing 12 | ||||||||
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) |
AGR Gene | RGD:1562570 | AgrOrtholog |
BioCyc Gene | G2FUF-47336 | BioCyc |
Ensembl Genes | ENSRNOG00000036934 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
ENSRNOG00055023748 | UniProtKB/Swiss-Prot | |
ENSRNOG00060001877 | UniProtKB/Swiss-Prot | |
ENSRNOG00065024051 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENSRNOT00000010641 | ENTREZGENE |
ENSRNOT00000010641.6 | UniProtKB/Swiss-Prot | |
ENSRNOT00000098567.1 | UniProtKB/TrEMBL | |
ENSRNOT00000111107.1 | UniProtKB/TrEMBL | |
ENSRNOT00055040781 | UniProtKB/Swiss-Prot | |
ENSRNOT00060002907 | UniProtKB/Swiss-Prot | |
ENSRNOT00065041278 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.40.50.1820 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
IMAGE_CLONE | IMAGE:7096446 | IMAGE-MGC_LOAD |
InterPro | AB_hydrolase | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
AB_hydrolase_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:499913 | UniProtKB/Swiss-Prot |
MGC_CLONE | MGC:93694 | IMAGE-MGC_LOAD |
NCBI Gene | 499913 | ENTREZGENE |
PANTHER | ALPHA/BETA HYDROLASE DOMAIN-CONTAINING PROTEIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR12277:SF61 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | Abhydrolase_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PhenoGen | Abhd12 | PhenoGen |
RatGTEx | ENSRNOG00000036934 | RatGTEx |
ENSRNOG00055023748 | RatGTEx | |
ENSRNOG00060001877 | RatGTEx | |
ENSRNOG00065024051 | RatGTEx | |
Superfamily-SCOP | SSF53474 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | A0A8I6ACA9_RAT | UniProtKB/TrEMBL |
A0A8I6ATI5 | ENTREZGENE, UniProtKB/TrEMBL | |
ABD12_RAT | UniProtKB/Swiss-Prot, ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2020-02-13 | Abhd12 | abhydrolase domain containing 12, lysophospholipase | Abhd12 | abhydrolase domain containing 12 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-03-05 | Abhd12 | abhydrolase domain containing 12 | LOC499913 | similar to Protein C20orf22 homolog | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-02-09 | LOC499913 | similar to Protein C20orf22 homolog | Symbol and Name status set to provisional | 70820 | PROVISIONAL |