Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | COL22A1 (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 | COL22A1 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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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. | GOA pipeline | RGD automated data 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. | Collagen COL22A1 maintains vascular stability and mutations in COL22A1 are potentially associated with intracranial aneurysms. | Ton QV, etal., Dis Model Mech. 2018 Dec 12;11(12). pii: 11/12/dmm033654. doi: 10.1242/dmm.033654. |
Col22a1 (Rattus norvegicus - Norway rat) |
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COL22A1 (Homo sapiens - human) |
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Col22a1 (Mus musculus - house mouse) |
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Col22a1 (Chinchilla lanigera - long-tailed chinchilla) |
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COL22A1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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COL22A1 (Canis lupus familiaris - dog) |
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Col22a1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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COL22A1 (Sus scrofa - pig) |
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COL22A1 (Chlorocebus sabaeus - green monkey) |
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Col22a1 (Heterocephalus glaber - naked mole-rat) |
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Variants in Col22a1
1464 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 |
D7Rat133 |
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AW532112 |
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AW534465 |
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AU049204 |
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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 | 1 | 2 | 2 | 8 | 1 | ||||||||
Low | 1 | 31 | 21 | 7 | 18 | 7 | 7 | 9 | 58 | 22 | 33 | 8 | 7 |
Below cutoff | 2 | 12 | 20 | 18 | 1 | 18 | 14 | 13 | 3 |
RefSeq Transcripts | XM_001072793 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
XM_008765637 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080218 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039080220 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063264443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063264444 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063264445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063264447 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_063264448 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XR_010053430 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | JAXUCZ010000007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000034672 ⟹ ENSRNOP00000029936 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039080218 ⟹ XP_038936146 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039080219 ⟹ XP_038936147 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039080220 ⟹ XP_038936148 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063264443 ⟹ XP_063120513 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063264444 ⟹ XP_063120514 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063264445 ⟹ XP_063120515 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063264447 ⟹ XP_063120517 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XM_063264448 ⟹ XP_063120518 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | XR_010053430 | ||||||||
Type: | NON-CODING | ||||||||
Position: |
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Protein RefSeqs | XP_038936146 | (Get FASTA) | NCBI Sequence Viewer |
XP_038936147 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038936148 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063120513 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063120514 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063120515 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063120517 | (Get FASTA) | NCBI Sequence Viewer | |
XP_063120518 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000029936 | ||
ENSRNOP00000029936.7 |
RefSeq Acc Id: | ENSRNOP00000029936 ⟸ ENSRNOT00000034672 |
RefSeq Acc Id: | XP_038936146 ⟸ XM_039080218 |
- Peptide Label: | isoform X1 |
- UniProtKB: | F1M897 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038936148 ⟸ XM_039080220 |
- Peptide Label: | isoform X8 |
RefSeq Acc Id: | XP_038936147 ⟸ XM_039080219 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_063120513 ⟸ XM_063264443 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_063120514 ⟸ XM_063264444 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_063120515 ⟸ XM_063264445 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_063120517 ⟸ XM_063264447 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_063120518 ⟸ XM_063264448 |
- Peptide Label: | isoform X7 |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
Database | Acc Id | Source(s) |
AGR Gene | RGD:1309081 | AgrOrtholog |
BioCyc Gene | G2FUF-33073 | BioCyc |
Ensembl Genes | ENSRNOG00000024824 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000034672.7 | UniProtKB/TrEMBL |
Gene3D-CATH | 2.60.120.200 | UniProtKB/TrEMBL |
3.40.50.410 | UniProtKB/TrEMBL | |
InterPro | Collagen | UniProtKB/TrEMBL |
ConA-like_dom | UniProtKB/TrEMBL | |
TSPN-like_N | UniProtKB/TrEMBL | |
VWF_A | UniProtKB/TrEMBL | |
vWFA_dom_sf | UniProtKB/TrEMBL | |
NCBI Gene | 315071 | ENTREZGENE |
PANTHER | COLLAGEN ALPHA | UniProtKB/TrEMBL |
COLLAGEN ALPHA-1(IV) CHAIN | UniProtKB/TrEMBL | |
Pfam | Collagen | UniProtKB/TrEMBL |
VWA | UniProtKB/TrEMBL | |
PhenoGen | Col22a1 | PhenoGen |
PRINTS | VWFADOMAIN | UniProtKB/TrEMBL |
PROSITE | VWFA | UniProtKB/TrEMBL |
RatGTEx | ENSRNOG00000024824 | RatGTEx |
SMART | TSPN | UniProtKB/TrEMBL |
VWA | UniProtKB/TrEMBL | |
Superfamily-SCOP | ConA_like_lec_gl | UniProtKB/TrEMBL |
SSF53300 | UniProtKB/TrEMBL | |
UniProt | F1M897 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2016-07-27 | Col22a1 | collagen type XXII alpha 1 chain | Col22a1 | collagen, type XXII, alpha 1 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-03-03 | Col22a1 | collagen, type XXII, alpha 1 | Col22a1_predicted | procollagen, type XXII, alpha 1 (predicted) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2006-03-30 | Col22a1_predicted | procollagen, type XXII, alpha 1 (predicted) | collagen, type XXII, alpha 1 (predicted) | Name updated | 1299863 | APPROVED | |
2005-01-12 | Col22a1_predicted | collagen, type XXII, alpha 1 (predicted) | Symbol and Name status set to approved | 70820 | APPROVED |