Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | cranioectodermal dysplasia | | ISO | IFT43 (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) | cranioectodermal dysplasia | | ISO | IFT43 (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 |
Ift43 (Rattus norvegicus - Norway rat) |
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IFT43 (Homo sapiens - human) |
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Ift43 (Mus musculus - house mouse) |
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Ift43 (Chinchilla lanigera - long-tailed chinchilla) |
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IFT43 (Pan paniscus - bonobo/pygmy chimpanzee) |
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IFT43 (Canis lupus familiaris - dog) |
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Ift43 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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IFT43 (Sus scrofa - pig) |
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IFT43 (Chlorocebus sabaeus - green monkey) |
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Ift43 (Heterocephalus glaber - naked mole-rat) |
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Variants in Ift43
458 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 |
RH132427 |
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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 | 43 | 13 | 6 | 2 | 6 | 66 | 28 | 41 | 11 | |||
Low | 44 | 35 | 17 | 35 | 8 | 11 | 8 | 7 | 8 | ||||
Below cutoff |
RefSeq Transcripts | NM_001134525 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001399448 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_006240370 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017594099 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_017594100 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039112051 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039112052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039112053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
XM_039112054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | CH473982 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
FQ222650 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JAXUCZ010000006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENSRNOT00000013560 ⟹ ENSRNOP00000013560 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000104110 ⟹ ENSRNOP00000081023 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000109209 ⟹ ENSRNOP00000078860 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000112265 ⟹ ENSRNOP00000082023 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001134525 ⟹ NP_001127997 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001399448 ⟹ NP_001386377 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_006240370 ⟹ XP_006240432 | ||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017594099 ⟹ XP_017449588 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_017594100 ⟹ XP_017449589 | ||||||||||||||||
Type: | CODING | ||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039112051 ⟹ XP_038967979 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039112052 ⟹ XP_038967980 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039112053 ⟹ XP_038967981 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039112054 ⟹ XP_038967982 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Protein RefSeqs | NP_001127997 | (Get FASTA) | NCBI Sequence Viewer |
NP_001386377 | (Get FASTA) | NCBI Sequence Viewer | |
XP_006240432 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017449588 | (Get FASTA) | NCBI Sequence Viewer | |
XP_017449589 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967979 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967980 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967981 | (Get FASTA) | NCBI Sequence Viewer | |
XP_038967982 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | EDL81596 | (Get FASTA) | NCBI Sequence Viewer |
EDL81597 | (Get FASTA) | NCBI Sequence Viewer | |
EDL81598 | (Get FASTA) | NCBI Sequence Viewer | |
EDL81599 | (Get FASTA) | NCBI Sequence Viewer | |
EDL81600 | (Get FASTA) | NCBI Sequence Viewer | |
EDL81601 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSRNOP00000013560 | ||
ENSRNOP00000013560.5 | |||
ENSRNOP00000078860 | |||
ENSRNOP00000078860.1 | |||
ENSRNOP00000081023 | |||
ENSRNOP00000081023.1 | |||
ENSRNOP00000082023 | |||
ENSRNOP00000082023.1 |
RefSeq Acc Id: | NP_001127997 ⟸ NM_001134525 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A6JE54 (UniProtKB/TrEMBL), A0A8I5ZM33 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_006240432 ⟸ XM_006240370 |
- Peptide Label: | isoform X2 |
- UniProtKB: | A0A8I5ZRK4 (UniProtKB/TrEMBL), A6JE53 (UniProtKB/TrEMBL), D3ZY35 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | XP_017449588 ⟸ XM_017594099 |
- Peptide Label: | isoform X1 |
- Sequence: |
RefSeq Acc Id: | XP_017449589 ⟸ XM_017594100 |
- Peptide Label: | isoform X3 |
- UniProtKB: | A0A8I6G8V8 (UniProtKB/TrEMBL), A6JE53 (UniProtKB/TrEMBL), D3ZY35 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000013560 ⟸ ENSRNOT00000013560 |
RefSeq Acc Id: | XP_038967979 ⟸ XM_039112051 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | XP_038967980 ⟸ XM_039112052 |
- Peptide Label: | isoform X5 |
RefSeq Acc Id: | XP_038967981 ⟸ XM_039112053 |
- Peptide Label: | isoform X6 |
RefSeq Acc Id: | XP_038967982 ⟸ XM_039112054 |
- Peptide Label: | isoform X7 |
RefSeq Acc Id: | ENSRNOP00000081023 ⟸ ENSRNOT00000104110 |
RefSeq Acc Id: | ENSRNOP00000078860 ⟸ ENSRNOT00000109209 |
RefSeq Acc Id: | ENSRNOP00000082023 ⟸ ENSRNOT00000112265 |
RefSeq Acc Id: | NP_001386377 ⟸ NM_001399448 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A6JE52 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-D3ZY35-F1-model_v2 | AlphaFold | D3ZY35 | 1-194 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13694746 | ||||||||
Promoter ID: | EPDNEW_R5270 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Ift43_1 | ||||||||
Description: | intraflagellar transport 43 | ||||||||
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:1307392 | AgrOrtholog |
BioCyc Gene | G2FUF-36761 | BioCyc |
Ensembl Genes | ENSRNOG00000010194 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000013560 | ENTREZGENE |
ENSRNOT00000013560.5 | UniProtKB/TrEMBL | |
ENSRNOT00000104110.1 | UniProtKB/TrEMBL | |
ENSRNOT00000109209 | ENTREZGENE | |
ENSRNOT00000109209.1 | UniProtKB/TrEMBL | |
ENSRNOT00000112265.1 | UniProtKB/TrEMBL | |
InterPro | IFT43 | UniProtKB/TrEMBL |
KEGG Report | rno:299209 | UniProtKB/TrEMBL |
NCBI Gene | 299209 | ENTREZGENE |
PANTHER | INTRAFLAGELLAR TRANSPORT PROTEIN 43 HOMOLOG | UniProtKB/TrEMBL |
PTHR33724 | UniProtKB/TrEMBL | |
Pfam | IFT43 | UniProtKB/TrEMBL |
PhenoGen | Ift43 | PhenoGen |
RatGTEx | ENSRNOG00000010194 | RatGTEx |
UniProt | A0A8I5ZM33 | ENTREZGENE, UniProtKB/TrEMBL |
A0A8I5ZRK4 | ENTREZGENE, UniProtKB/TrEMBL | |
A0A8I6G8V8 | ENTREZGENE, UniProtKB/TrEMBL | |
A6JE52 | ENTREZGENE, UniProtKB/TrEMBL | |
A6JE53 | ENTREZGENE, UniProtKB/TrEMBL | |
A6JE54 | ENTREZGENE, UniProtKB/TrEMBL | |
D3ZY35 | ENTREZGENE, UniProtKB/TrEMBL |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2014-07-09 | Ift43 | intraflagellar transport 43 | Ift43 | intraflagellar transport 43 homolog (Chlamydomonas) | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2011-08-01 | Ift43 | intraflagellar transport 43 homolog (Chlamydomonas) | RGD1307392 | similar to 1700019E19Rik protein | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-04-30 | RGD1307392 | similar to 1700019E19Rik protein | RGD1307392_predicted | similar to 1700019E19Rik protein (predicted) | 'predicted' is removed | 2292626 | APPROVED |
2005-01-20 | RGD1307392_predicted | similar to 1700019E19Rik protein (predicted) | LOC299209_predicted | Symbol and Name status set to approved | 1331353 | APPROVED | |
2005-01-12 | LOC299209_predicted | similar to 1700019E19Rik protein (predicted) | Symbol and Name status set to provisional | 70820 | PROVISIONAL |