Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Extl3 | Mouse | Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities | | ISO | EXTL3 (Homo sapiens) | 7240710 | | OMIM | | |
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Imported Disease Annotations - OMIMObject Symbol | Species | Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Extl3 | Mouse | Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities | | ISO | EXTL3 (Homo sapiens) | 7240710 | | OMIM | | |
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# | Reference Title | Reference Citation |
1. | Functional annotation of a full-length mouse cDNA collection. | Kawai J, etal., Nature. 2001 Feb 8;409(6821):685-90. |
2. | Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. | Ko MS, etal., Development 2000 Apr;127(8):1737-49. |
3. | Electronic Transfer of Homolog Data | MGD and Homologene mouse data transfer |
4. | MGDs mouse GO annotations | MGD data from the GO Consortium |
5. | Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. | Okazaki Y, etal., Nature. 2002 Dec 5;420(6915):563-73. |
6. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
7. | Mouse MP Annotation Import Pipeline | RGD automated import pipeline |
8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:8889548 | PMID:10349636 | PMID:11042159 | PMID:11076861 | PMID:12477932 | PMID:12520002 | PMID:14610273 | PMID:14618397 | PMID:14681479 | PMID:15246697 | PMID:15782199 | PMID:16141072 |
PMID:16141073 | PMID:16602821 | PMID:18799693 | PMID:19158046 | PMID:19336225 | PMID:21267068 | PMID:21873635 | PMID:22158612 | PMID:22727489 | PMID:24803591 | PMID:27830702 | PMID:28378742 |
PMID:28811323 | PMID:32201365 | PMID:34099862 | PMID:35263589 | PMID:35676258 | PMID:36240758 | PMID:38355793 |
Extl3 (Mus musculus - house mouse) |
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EXTL3 (Homo sapiens - human) |
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Extl3 (Rattus norvegicus - Norway rat) |
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Extl3 (Chinchilla lanigera - long-tailed chinchilla) |
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EXTL3 (Pan paniscus - bonobo/pygmy chimpanzee) |
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EXTL3 (Canis lupus familiaris - dog) |
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Extl3 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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EXTL3 (Sus scrofa - pig) |
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EXTL3 (Chlorocebus sabaeus - green monkey) |
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Extl3 (Heterocephalus glaber - naked mole-rat) |
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Variants in Extl3
3256 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 |
AU040105 |
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Extl3 |
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Extl3 |
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RefSeq Transcripts | NM_001360385 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_001404938 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001404939 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001404940 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001404941 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001404942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001404943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001404944 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001404945 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_001404946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_018788 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC124489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC155172 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF083550 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK019308 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK137842 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK190300 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK196773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK197467 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK204754 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK220344 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC038525 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC058526 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC065073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CF539474 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH466535 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CJ129577 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CO044892 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENSMUST00000022550 ⟹ ENSMUSP00000022550 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000223989 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Ensembl Acc Id: | ENSMUST00000225633 ⟹ ENSMUSP00000153547 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | NM_001360385 ⟹ NP_001347314 | ||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | NM_001404938 ⟹ NP_001391867 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001404939 ⟹ NP_001391868 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001404940 ⟹ NP_001391869 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001404941 ⟹ NP_001391870 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001404942 ⟹ NP_001391871 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001404943 ⟹ NP_001391872 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001404944 ⟹ NP_001391873 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001404945 ⟹ NP_001391874 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_001404946 ⟹ NP_001391875 | ||||||||
RefSeq Status: | VALIDATED | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_018788 ⟹ NP_061258 | ||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_001347314 | (Get FASTA) | NCBI Sequence Viewer |
NP_001391867 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001391868 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001391869 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001391870 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001391871 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001391872 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001391873 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001391874 | (Get FASTA) | NCBI Sequence Viewer | |
NP_001391875 | (Get FASTA) | NCBI Sequence Viewer | |
NP_061258 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAD42040 | (Get FASTA) | NCBI Sequence Viewer |
AAH65073 | (Get FASTA) | NCBI Sequence Viewer | |
BAD90409 | (Get FASTA) | NCBI Sequence Viewer | |
BAE23506 | (Get FASTA) | NCBI Sequence Viewer | |
EDL36035 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSMUSP00000022550 | ||
ENSMUSP00000022550.8 | |||
ENSMUSP00000153547.2 | |||
GenBank Protein | Q9WVL6 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_061258 ⟸ NM_018788 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9WVL6 (UniProtKB/Swiss-Prot), E9QKN8 (UniProtKB/Swiss-Prot), Q6P1H4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | NP_001347314 ⟸ NM_001360385 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9WVL6 (UniProtKB/Swiss-Prot), E9QKN8 (UniProtKB/Swiss-Prot), Q6P1H4 (UniProtKB/TrEMBL) |
Ensembl Acc Id: | ENSMUSP00000153547 ⟸ ENSMUST00000225633 |
Ensembl Acc Id: | ENSMUSP00000022550 ⟸ ENSMUST00000022550 |
RefSeq Acc Id: | NP_001391868 ⟸ NM_001404939 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9WVL6 (UniProtKB/Swiss-Prot), E9QKN8 (UniProtKB/Swiss-Prot), Q6P1H4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001391873 ⟸ NM_001404944 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q9WVL6 (UniProtKB/Swiss-Prot), E9QKN8 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001391867 ⟸ NM_001404938 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9WVL6 (UniProtKB/Swiss-Prot), E9QKN8 (UniProtKB/Swiss-Prot), Q6P1H4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001391869 ⟸ NM_001404940 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9WVL6 (UniProtKB/Swiss-Prot), E9QKN8 (UniProtKB/Swiss-Prot), Q6P1H4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | NP_001391874 ⟸ NM_001404945 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q9WVL6 (UniProtKB/Swiss-Prot), E9QKN8 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001391871 ⟸ NM_001404942 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9WVL6 (UniProtKB/Swiss-Prot), E9QKN8 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001391875 ⟸ NM_001404946 |
- Peptide Label: | isoform 3 |
- UniProtKB: | Q9WVL6 (UniProtKB/Swiss-Prot), E9QKN8 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001391872 ⟸ NM_001404943 |
- Peptide Label: | isoform 2 |
- UniProtKB: | Q9WVL6 (UniProtKB/Swiss-Prot), E9QKN8 (UniProtKB/Swiss-Prot) |
RefSeq Acc Id: | NP_001391870 ⟸ NM_001404941 |
- Peptide Label: | isoform 1 |
- UniProtKB: | Q9WVL6 (UniProtKB/Swiss-Prot), E9QKN8 (UniProtKB/Swiss-Prot), Q6P1H4 (UniProtKB/TrEMBL) |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q9WVL6-F1-model_v2 | AlphaFold | Q9WVL6 | 1-918 | view protein structure |
RGD ID: | 8682754 | ||||||||
Promoter ID: | EPDNEW_M19408 | ||||||||
Type: | initiation region | ||||||||
Name: | Extl3_1 | ||||||||
Description: | Mus musculus exostoses -like 3 , transcript variant 1, mRNA. | ||||||||
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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RGD ID: | 6824909 | ||||||||
Promoter ID: | MM_KWN:17233 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | BoneMarrow_2Hour, Brain, Kidney, Liver, Lung, Spleen | ||||||||
Transcripts: | ENSMUST00000111165 | ||||||||
Position: |
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RGD ID: | 6824908 | ||||||||
Promoter ID: | MM_KWN:17234 | ||||||||
Type: | Non-CpG | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | Brain | ||||||||
Transcripts: | ENSMUST00000022550, NM_018788_EXTL3, UC007UIX.1 | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | MGI:1860765 | AgrOrtholog |
Ensembl Genes | ENSMUSG00000021978 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSMUST00000022550 | ENTREZGENE |
ENSMUST00000022550.8 | UniProtKB/TrEMBL | |
ENSMUST00000225633.2 | UniProtKB/TrEMBL | |
InterPro | Exostosin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Exostosin_GT47 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GT64 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Nucleotide-diphossugar_trans | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
MGD | MGI:1860765 | ENTREZGENE |
NCBI Gene | 54616 | ENTREZGENE |
PANTHER | ACETYLGLUCOSAMINYLTRANSFERASE | UniProtKB/Swiss-Prot |
ACETYLGLUCOSAMINYLTRANSFERASE | UniProtKB/Swiss-Prot | |
ACETYLGLUCOSAMINYLTRANSFERASE | UniProtKB/TrEMBL | |
ACETYLGLUCOSAMINYLTRANSFERASE | UniProtKB/TrEMBL | |
Pfam | Exostosin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Glyco_transf_64 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Extl3 | PhenoGen |
Superfamily-SCOP | SSF53448 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
UniProt | E9QKN8 | ENTREZGENE |
EXTL3_MOUSE | UniProtKB/Swiss-Prot | |
Q3UUW7_MOUSE | UniProtKB/TrEMBL | |
Q5DU26_MOUSE | UniProtKB/TrEMBL | |
Q6P1H4 | ENTREZGENE, UniProtKB/TrEMBL | |
Q9WVL6 | ENTREZGENE | |
UniProt Secondary | E9QKN8 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2019-09-10 | Extl3 | exostosin-like glycosyltransferase 3 | Extl3 | exostoses (multiple)-like 3 | Symbol and/or name change | 5135510 | APPROVED |